Conditions caused by abnormal CILIA movement in the body, usually causing KARTAGENER SYNDROME, chronic respiratory disorders, chronic SINUSITIS, and chronic OTITIS. Abnormal ciliary beating is likely due to defects in any of the 200 plus ciliary proteins, such as missing motor enzyme DYNEIN arms.
Disorders affecting the motor function of the UPPER ESOPHAGEAL SPHINCTER; LOWER ESOPHAGEAL SPHINCTER; the ESOPHAGUS body, or a combination of these parts. The failure of the sphincters to maintain a tonic pressure may result in gastric reflux of food and acid into the esophagus (GASTROESOPHAGEAL REFLUX). Other disorders include hypermotility (spastic disorders) and markedly increased amplitude in contraction (nutcracker esophagus).
Populations of thin, motile processes found covering the surface of ciliates (CILIOPHORA) or the free surface of the cells making up ciliated EPITHELIUM. Each cilium arises from a basic granule in the superficial layer of CYTOPLASM. The movement of cilia propels ciliates through the liquid in which they live. The movement of cilia on a ciliated epithelium serves to propel a surface layer of mucus or fluid. (King & Stansfield, A Dictionary of Genetics, 4th ed)
A bundle of MICROTUBULES and MICROTUBULE-ASSOCIATED PROTEINS forming the core of each CILIUM or FLAGELLUM. In most eukaryotic cilia or flagella, an axoneme shaft has 20 microtubules arranged in nine doublets and two singlets.
Dyneins that are responsible for ciliary and flagellar beating.
The motor activity of the GASTROINTESTINAL TRACT.
Compounds that act on PURINERGIC RECEPTORS or influence the synthesis, storage, uptake, metabolism, or release of purinergic transmitters.
A thin membrane that lines the CEREBRAL VENTRICLES and the central canal of the SPINAL CORD.
Measurement of the pressure or tension of liquids or gases with a manometer.
An autosomal recessive disorder characterized by a triad of DEXTROCARDIA; INFERTILITY; and SINUSITIS. The syndrome is caused by mutations of DYNEIN genes encoding motility proteins which are components of sperm tails, and CILIA in the respiratory and the reproductive tracts.
A gelatinous membrane overlying the acoustic maculae of SACCULE AND UTRICLE. It contains minute crystalline particles (otoliths) of CALCIUM CARBONATE and protein on its outer surface. In response to head movement, the otoliths shift causing distortion of the vestibular hair cells which transduce nerve signals to the BRAIN for interpretation of equilibrium.
A hypermotility disorder of the ESOPHAGUS that is characterized by spastic non-peristaltic responses to SWALLOWING; CHEST PAIN; and DYSPHAGIA.
A group of enzymes that catalyzes the phosphorylation of serine or threonine residues of proteins and is dependent on cyclic nucleotides.
A motility disorder of the ESOPHAGUS in which the LOWER ESOPHAGEAL SPHINCTER (near the CARDIA) fails to relax resulting in functional obstruction of the esophagus, and DYSPHAGIA. Achalasia is characterized by a grossly contorted and dilated esophagus (megaesophagus).
c-Kit positive cells related to SMOOTH MUSCLE CELLS that are intercalated between the autonomic nerves and the effector smooth muscle cells of the GASTROINTESTINAL TRACT. Different phenotypic classes play roles as pacemakers, mediators of neural inputs, and mechanosensors.
A family of multisubunit cytoskeletal motor proteins that use the energy of ATP hydrolysis to power a variety of cellular functions. Dyneins fall into two major classes based upon structural and functional criteria.
A non-specific host defense mechanism that removes MUCUS and other material from the LUNGS by ciliary and secretory activity of the tracheobronchial submucosal glands. It is measured in vivo as mucus transfer, ciliary beat frequency, and clearance of radioactive tracers.
A movement, caused by sequential muscle contraction, that pushes the contents of the intestines or other tubular organs in one direction.
Pathological processes in the ESOPHAGUS.
A type of ILEUS, a functional not mechanical obstruction of the INTESTINES. This syndrome is caused by a large number of disorders involving the smooth muscles (MUSCLE, SMOOTH) or the NERVOUS SYSTEM.
The muscular membranous segment between the PHARYNX and the STOMACH in the UPPER GASTROINTESTINAL TRACT.
Chronic delayed gastric emptying. Gastroparesis may be caused by motor dysfunction or paralysis of STOMACH muscles or may be associated with other systemic diseases such as DIABETES MELLITUS.
A species of GREEN ALGAE. Delicate, hairlike appendages arise from the flagellar surface in these organisms.
The cartilaginous and membranous tube descending from the larynx and branching into the right and left main bronchi.
Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM.
The evacuation of food from the stomach into the duodenum.
Movement characteristics of SPERMATOZOA in a fresh specimen. It is measured as the percentage of sperms that are moving, and as the percentage of sperms with productive flagellar motion such as rapid, linear, and forward progression.
Two ganglionated neural plexuses in the gut wall which form one of the three major divisions of the autonomic nervous system. The enteric nervous system innervates the gastrointestinal tract, the pancreas, and the gallbladder. It contains sensory neurons, interneurons, and motor neurons. Thus the circuitry can autonomously sense the tension and the chemical environment in the gut and regulate blood vessel tone, motility, secretions, and fluid transport. The system is itself governed by the central nervous system and receives both parasympathetic and sympathetic innervation. (From Kandel, Schwartz, and Jessel, Principles of Neural Science, 3d ed, p766)
An involuntary contraction of a muscle or group of muscles. Spasms may involve SKELETAL MUSCLE or SMOOTH MUSCLE.
The act, process, or result of passing from one place or position to another. It differs from LOCOMOTION in that locomotion is restricted to the passing of the whole body from one place to another, while movement encompasses both locomotion but also a change of the position of the whole body or any of its parts. Movement may be used with reference to humans, vertebrate and invertebrate animals, and microorganisms. Differentiate also from MOTOR ACTIVITY, movement associated with behavior.
A pattern of gastrointestinal muscle contraction and depolarizing myoelectric activity that moves from the stomach to the ILEOCECAL VALVE at regular frequency during the interdigestive period. The complex and its accompanying motor activity periodically cleanse the bowel of interdigestive secretion and debris in preparation for the next meal.
Difficulty in SWALLOWING which may result from neuromuscular disorder or mechanical obstruction. Dysphagia is classified into two distinct types: oropharyngeal dysphagia due to malfunction of the PHARYNX and UPPER ESOPHAGEAL SPHINCTER; and esophageal dysphagia due to malfunction of the ESOPHAGUS.
A specific blocker of dopamine receptors. It speeds gastrointestinal peristalsis, causes prolactin release, and is used as antiemetic and tool in the study of dopaminergic mechanisms.
Infrequent or difficult evacuation of FECES. These symptoms are associated with a variety of causes, including low DIETARY FIBER intake, emotional or nervous disturbances, systemic and structural disorders, drug-induced aggravation, and infections.
Pathological processes in any segment of the INTESTINE from DUODENUM to RECTUM.
Drugs used in the treatment of movement disorders. Most of these act centrally on dopaminergic or cholinergic systems. Among the most important clinically are those used for the treatment of Parkinson disease (ANTIPARKINSON AGENTS) and those for the tardive dyskinesias.
The area covering the terminal portion of ESOPHAGUS and the beginning of STOMACH at the cardiac orifice.
The act of taking solids and liquids into the GASTROINTESTINAL TRACT through the mouth and throat.
Unstriated and unstriped muscle, one of the muscles of the internal organs, blood vessels, hair follicles, etc. Contractile elements are elongated, usually spindle-shaped cells with centrally located nuclei. Smooth muscle fibers are bound together into sheets or bundles by reticular fibers and frequently elastic nets are also abundant. (From Stedman, 25th ed)
One of two ganglionated neural networks which together form the ENTERIC NERVOUS SYSTEM. The myenteric (Auerbach's) plexus is located between the longitudinal and circular muscle layers of the gut. Its neurons project to the circular muscle, to other myenteric ganglia, to submucosal ganglia, or directly to the epithelium, and play an important role in regulating and patterning gut motility. (From FASEB J 1989;3:127-38)
A major affective disorder marked by severe mood swings (manic or major depressive episodes) and a tendency to remission and recurrence.
Retrograde flow of gastric juice (GASTRIC ACID) and/or duodenal contents (BILE ACIDS; PANCREATIC JUICE) into the distal ESOPHAGUS, commonly due to incompetence of the LOWER ESOPHAGEAL SPHINCTER.
Generally refers to the digestive structures stretching from the MOUTH to ANUS, but does not include the accessory glandular organs (LIVER; BILIARY TRACT; PANCREAS).
An organ of digestion situated in the left upper quadrant of the abdomen between the termination of the ESOPHAGUS and the beginning of the DUODENUM.
A process leading to shortening and/or development of tension in muscle tissue. Muscle contraction occurs by a sliding filament mechanism whereby actin filaments slide inward among the myosin filaments.
A type of stress exerted uniformly in all directions. Its measure is the force exerted per unit area. (McGraw-Hill Dictionary of Scientific and Technical Terms, 6th ed)
Disorders that feature impairment of eye movements as a primary manifestation of disease. These conditions may be divided into infranuclear, nuclear, and supranuclear disorders. Diseases of the eye muscles or oculomotor cranial nerves (III, IV, and VI) are considered infranuclear. Nuclear disorders are caused by disease of the oculomotor, trochlear, or abducens nuclei in the BRAIN STEM. Supranuclear disorders are produced by dysfunction of higher order sensory and motor systems that control eye movements, including neural networks in the CEREBRAL CORTEX; BASAL GANGLIA; CEREBELLUM; and BRAIN STEM. Ocular torticollis refers to a head tilt that is caused by an ocular misalignment. Opsoclonus refers to rapid, conjugate oscillations of the eyes in multiple directions, which may occur as a parainfectious or paraneoplastic condition (e.g., OPSOCLONUS-MYOCLONUS SYNDROME). (Adams et al., Principles of Neurology, 6th ed, p240)
The segment of LARGE INTESTINE between the CECUM and the RECTUM. It includes the ASCENDING COLON; the TRANSVERSE COLON; the DESCENDING COLON; and the SIGMOID COLON.
Psychiatric illness or diseases manifested by breakdowns in the adaptational process expressed primarily as abnormalities of thought, feeling, and behavior producing either distress or impairment of function.
Persistent and disabling ANXIETY.
Those disorders that have a disturbance in mood as their predominant feature.
Categorical classification of MENTAL DISORDERS based on criteria sets with defining features. It is produced by the American Psychiatric Association. (DSM-IV, page xxii)
The movement of cells from one location to another. Distinguish from CYTOKINESIS which is the process of dividing the CYTOPLASM of a cell.

Regulation of mucociliary clearance in health and disease. (1/140)

Airway secretions are cleared by mucociliary clearance (MCC), in addition to other mechanisms such as cough, peristalsis, two-phase gas-liquid flow and alveolar clearance. MCC comprises the cephalad movement of mucus caused by the cilia lining the conducting airways until it can be swallowed or expectorated. MCC is a very complex process in which many variables are involved, all of which may modify the final outcome. The structure, number, movement and co-ordination of the cilia present in the airways as well as the amount, composition and rheological properties of the periciliary and mucus layers are determinants of MCC. Physiological factors such as age, sex, posture, sleep and exercise are reported to influence MCC due to a change in the cilia, the mucus or the periciliary layer, or a combination of these. Environmental pollution is suspected to have a depressant effect on MCC dependent on different factors such as pollutant concentration and the duration of exposure. Most studies focus on sulphur dioxide, sulphuric acid, nitrogen dioxide and ozone. Tobacco smoke and hairspray have been noted to have a negative influence on MCC. Some diseases are known to affect MCC, mostly negatively. The underlying mechanism differs from one illness to another. Immotile cilia syndrome, asthma, bronchiectasis, chronic bronchitis, cystic fibrosis and some acute respiratory tract infections are among the most frequently reported. The present paper reviews normal mucociliary clearance and the effects of diseases on this process.  (+info)

A possible mechanism of primary ciliary dyskinesia: a case of a segmental defect in ciliary microtubules. (2/140)

We report here a 13-year-old woman with cough, sputum and fever. The patient had both chronic sinusitis and bronchitis. Chest X-ray and computed tomographic scan of the chest revealed mucous bronchial filling and bronchiectasia in bronchi of bilateral lower lobes, right middle lobe and left upper lobe. Aerosol inhalation scintigraphy with 99mTechnetium demonstrated delays of the discharged tracer. On the basis of these findings, primary ciliary dyskinesia was suggested. This was confirmed by the findings from nasal biopsy with transmission electron microscopy where all of the microtubules were segmentally defected near the basal body in the cilia. On the basis of these findings, we diagnosed the patient with primary ciliary dyskinesia which may be due, at least in part, to segmental defect of ciliary microtubules.  (+info)

Nasal and lower airway level of nitric oxide in children with primary ciliary dyskinesia. (3/140)

Exhaled nitric oxide can be detected in exhaled air and is readily measured by chemiluminescence. It is thought to be involved in both the regulation of ciliary motility and host defence. Recently, upper airway NO has been found to be reduced in a small number of children with primary ciliary dyskinesia (PCD) and its measurement has been recommended as a diagnostic test for this condition. The aim of this study was to compare the levels of NO in the upper and lower airways in a larger number of children with proven PCD with those found in healthy children. Exhaled NO was measured in the upper airway by direct nasal sampling during a breath-hold and in the lower airway as the end-tidal plateau level, using a chemiluminescence NO analyser. Upper airway NO levels were significantly lower in PCD (n = 21) than in the healthy children (n = 60) (mean +/-SD, 97+/-193, 664+/-298 parts per billion (ppb), respectively, p<0.0001). In PCD, the lower airway NO levels were also reduced (2.17+/-1.18, 5.94+/-3.49 ppb, respectively, p<0.0001). The levels were not associated with steroid use and did not correlate with lung function. Although there was some overlap between normal children and those with primary ciliary dyskinesia with regard to lower airway NO, nasal NO discriminated between the two groups in all but one child in each group. Measurement of nasal NO therefore may be a useful screening test for primary ciliary dyskinesia.  (+info)

Asymmetry of cilia and of mice and men. (4/140)

Evidence is given for the opinion that cilia in the early embryo, by their work, determine the laterality of the body; without ciliary work body laterality would be randomized. More exactly, monocilia in the primitive node are responsible for this determination. They have been described as being of the 9+0 type, but with dynein arms and with a gyrating movement. The orientation of the monocilia on the epithelium is of no importance but the direction of their gyration is, as may also be the shape of the node. The chirality of the cilia is thus reflected directly in the asymmetry of the body. The dynein arms go clockwise as seen from the base to tip and the ciliary rotation is in the same direction. The resulting waterflow is towards the left and so is the movement of the forming heart. In most subgroups of the immotile-cilia syndrome this mechanism does not work and equally many individuals will be born with situs inversus as with situs solitus. An exception is the immotile-cilia subgroup, named 'microtubule transposition', which is characterized by all cilia having a 9+0 structure throughout most of their length.  (+info)

Effects of drugs on mucus clearance. (5/140)

Mucociliary clearance (MCC), the process in which airway mucus together with substances trapped within are moved out of the lungs, is an important defence mechanism of the human body. Drugs may alter this process, such that it is necessary to know the effect of the drugs on MCC. Indeed, agents stimulating MCC may be used therapeutically in respiratory medicine, especially in patients suspected of having an impairment of their mucociliary transport system. In contrast, caution should be taken with drugs depressing MCC as an undesired side-effect, independently of their therapeutic indication. Since cough clearance (CC) serves as a back-up system when MCC fails, the influence of drugs must be examined not only on MCC but also on CC. Ultimately, the clinical repercussions of alterations in mucus transport induced by drug administration must be studied. Tertiary ammonium compounds (anticholinergics), aspirin, anaesthetic agents and benzodiazepines have been shown to be capable of depressing the mucociliary transport system. Cholinergics, methylxanthines, sodium cromoglycate, hypertonic saline, saline as well as water aerosol have been shown to increase MCC. Adrenergic antagonists, guaifenesin, S-carboxymethylcysteine, sodium 2-mercapto-ethane sulphonate and frusemide have been reported not to alter the mucociliary transport significantly. Amiloride, uridine 5'-triphosphate (UTP), quaternary ammonium compounds (anticholinergics), adrenergic agonists, corticosteroids, recombinant human deoxyribonuclease (rhDNase), N-acetylcysteine, bromhexine and ambroxol have been reported either not to change or to augment MCC. Indirect data suggest that surfactant as well as antibiotics may improve the mucociliary transport system. As for the influence of drugs on CC, amiloride and rhDNase have been demonstrated to increase the effectiveness of cough. A trend towards an improved CC was noted after treatment with adrenergic agonists. The anticholinergic agent ipratropium bromide, which is a quaternary ammonium compound, has been suggested to decrease CC significantly. Bromhexine, ambroxol and neutral saline seemed not to alter CC, either positively or negatively. Finally, treatment with either amiloride, recombinant human deoxyribonuclease, bromhexine, ambroxol, N-acetylcysteine, S-carboxymethylcysteine or hypertonic saline has been suggested as a possible cause of clinical improvement in patients, such as the experience of dyspnoea, the case of expectoration or the frequency of infective exacerbations. Other agents did not show a clinical benefit.  (+info)

Loss-of-function mutations in a human gene related to Chlamydomonas reinhardtii dynein IC78 result in primary ciliary dyskinesia. (6/140)

Primary ciliary dyskinesia (PCD) is a group of heterogeneous disorders of unknown origin, usually inherited as an autosomal recessive trait. Its phenotype is characterized by axonemal abnormalities of respiratory cilia and sperm tails leading to bronchiectasis and sinusitis, which are sometimes associated with situs inversus (Kartagener syndrome) and male sterility. The main ciliary defect in PCD is an absence of dynein arms. We have isolated the first gene involved in PCD, using a candidate-gene approach developed on the basis of documented abnormalities of immotile strains of Chlamydomonas reinhardtii, which carry axonemal ultrastructural defects reminiscent of PCD. Taking advantage of the evolutionary conservation of genes encoding axonemal proteins, we have isolated a human sequence (DNAI1) related to IC78, a C. reinhardtii gene encoding a dynein intermediate chain in which mutations are associated with the absence of outer dynein arms. DNAI1 is highly expressed in trachea and testis and is composed of 20 exons located at 9p13-p21. Two loss-of-function mutations of DNAI1 have been identified in a patient with PCD characterized by immotile respiratory cilia lacking outer dynein arms. In addition, we excluded linkage between this gene and similar PCD phenotypes in five other affected families, providing a clear demonstration of locus heterogeneity. These data reveal the critical role of DNAI1 in the development of human axonemal structures and open up new means for identification of additional genes involved in related developmental defects.  (+info)

A locus for primary ciliary dyskinesia maps to chromosome 19q. (7/140)

Primary ciliary dyskinesia is an autosomal recessive condition characterised by chronic sinusitis, bronchiectasis, and subfertility. Situs inversus occurs in 50% of cases (Kartagener syndrome). It has an estimated incidence of 1 in 20 000 live births. The clinical phenotype is caused by defective ciliary function associated with a range of ultrastructural abnormalities including absent dynein arms, absent radial spokes, and disturbed ciliary orientation. The molecular genetic basis is unknown. A genome scan was performed in five Arabic families. Using GENEHUNTER, a maximal multipoint lod score (HLOD) of 4.4 was obtained on chromosome 19q13.3-qter at alpha (proportion of linked families) = 0.7. A 15 cM critical region is defined by recombinations at D19S572 and D19S218. These data provide significant evidence for a PCD locus on chromosome 19q and confirm locus heterogeneity.  (+info)

Primary ciliary dyskinesia: a genome-wide linkage analysis reveals extensive locus heterogeneity. (8/140)

Primary ciliary dyskinesia (PCD), or immotile cilia syndrome (ICS), is an autosomal recessive disorder affecting ciliary movement with an incidence of 1 in 20000-30000. Dysmotility to complete immotility of cilia results in a multisystem disease of variable severity with recurrent respiratory tract infections leading to bronchiectasis and male subfertility. Ultrastructural defects are present in ciliated mucosa and spermatozoa. Situs inversus (SI) is found in about half of the patients (Kartagener syndrome). We have collected samples from 61 European and North American families with PCD. A genome-wide linkage search was performed in 31 multiplex families (169 individuals including 70 affecteds) using 188 evenly spaced (19cM average interval) polymorphic markers. Both parametric (recessive model) and non-parametric (identity by descent allele sharing) linkage analyses were used. No major locus for the majority of the families was identified, although the sample was powerful enough to detect linkage if 40% of the families were linked to one locus. These results strongly suggest extensive locus heterogeneity. Potential genomic regions harbouring PCD loci were localised on chromosomes 3p, 4q, 5p, 7p, 8q, 10p, 11q, 13q, 15q, 16p, 17q and 19q. Linkage analysis using PCD families with a dynein arm deficiency provided 'suggestive' evidence for linkage to chromosomal regions 8q, 16pter, while analyses using only PCD families with situs inversus resulted in 'suggestive' scores for chromosomes 8q, and 19q.  (+info)

Ciliary motility disorders are a group of rare genetic conditions that affect the function of cilia, which are tiny hair-like structures on the surface of cells in the body. Cilia play an important role in moving fluids and particles across the cell surface, including the movement of mucus and other substances in the respiratory system, the movement of eggs and sperm in the reproductive system, and the movement of fluid in the inner ear.

Ciliary motility disorders are caused by mutations in genes that are responsible for the proper functioning of cilia. These mutations can lead to abnormalities in the structure or function of cilia, which can result in a range of symptoms depending on the specific disorder and the parts of the body that are affected.

Some common symptoms of ciliary motility disorders include recurrent respiratory infections, chronic sinusitis, hearing loss, infertility, and situs inversus, a condition in which the major organs are reversed or mirrored from their normal positions. There are several different types of ciliary motility disorders, including primary ciliary dyskinesia, Kartagener syndrome, and immotile cilia syndrome.

Treatment for ciliary motility disorders typically involves addressing the specific symptoms and underlying causes of the disorder. This may include antibiotics to treat respiratory infections, surgery to correct structural abnormalities, or assisted reproductive technologies to help with infertility.

Esophageal motility disorders are a group of conditions that affect the normal movement (motility) of the muscles in the esophagus, which is the tube that connects the throat to the stomach. The esophageal muscles normally contract and relax in a coordinated manner to help move food from the mouth to the stomach.

In esophageal motility disorders, this muscle movement is impaired, leading to difficulty swallowing (dysphagia), chest pain, heartburn, or regurgitation of food. Some common examples of esophageal motility disorders include:

1. Achalasia: a condition in which the lower esophageal sphincter muscle fails to relax properly, preventing food from passing into the stomach.
2. Diffuse esophageal spasm: a disorder characterized by uncoordinated contractions of the esophageal muscles, leading to difficulty swallowing and chest pain.
3. Nutcracker esophagus: a condition in which the esophageal muscles contract too forcefully, causing pain and difficulty swallowing.
4. Hypertensive lower esophageal sphincter: a disorder in which the lower esophageal sphincter muscle is too tight, making it difficult to swallow and leading to symptoms such as heartburn and regurgitation.
5. Ineffective esophageal motility: a condition in which the esophageal muscles have weak or disorganized contractions, leading to difficulty swallowing and other symptoms.

Esophageal motility disorders can be diagnosed through tests such as manometry, which measures the pressure and coordination of esophageal muscle contractions, or barium swallow studies, which use X-rays to visualize the movement of food through the esophagus. Treatment may include medications, lifestyle changes, or surgery, depending on the specific disorder and its severity.

Cilia are tiny, hair-like structures that protrude from the surface of many types of cells in the body. They are composed of a core bundle of microtubules surrounded by a protein matrix and are covered with a membrane. Cilia are involved in various cellular functions, including movement of fluid or mucus across the cell surface, detection of external stimuli, and regulation of signaling pathways.

There are two types of cilia: motile and non-motile. Motile cilia are able to move in a coordinated manner to propel fluids or particles across a surface, such as those found in the respiratory tract and reproductive organs. Non-motile cilia, also known as primary cilia, are present on most cells in the body and serve as sensory organelles that detect chemical and mechanical signals from the environment.

Defects in cilia structure or function can lead to a variety of diseases, collectively known as ciliopathies. These conditions can affect multiple organs and systems in the body, including the brain, kidneys, liver, and eyes. Examples of ciliopathies include polycystic kidney disease, Bardet-Biedl syndrome, and Meckel-Gruber syndrome.

An axoneme is the microtubular structure that forms the core of a cilium or flagellum in eukaryotic cells. It is composed of nine pairs of peripheral microtubules, known as doublets, surrounding two central single microtubules, forming a "9+2" arrangement. The axoneme is anchored to the cell membrane through a basal body and provides the structural framework for the movement of cilia and flagella. It is composed of tubulin proteins and accessory structures such as dynein arms, which are responsible for generating the force required for ciliary or flagellar movement.

Axonemal dyneins are motor proteins that are located in the axoneme of eukaryotic cilia and flagella. The axoneme is the internal structure of these cellular appendages, and it is composed of nine microtubule doublets arranged in a ring around two central single microtubules.

Dyneins are large protein complexes that use the energy from ATP hydrolysis to move along microtubules, generating force and motion. Axonemal dyneins are responsible for the sliding of the microtubule doublets relative to each other, which leads to the bending and movement of cilia and flagella.

There are several types of axonemal dyneins, classified based on their structure and function. The outer dynein arms are larger complexes that generate the power stroke for ciliary beating, while the inner dynein arms are smaller complexes involved in regulating the beat pattern and frequency.

Defects in axonemal dyneins can lead to a variety of genetic disorders known as ciliopathies, which affect the structure and function of cilia and flagella. These disorders can cause a range of symptoms, including respiratory problems, infertility, and developmental abnormalities.

Gastrointestinal motility refers to the coordinated muscular contractions and relaxations that propel food, digestive enzymes, and waste products through the gastrointestinal tract. This process involves the movement of food from the mouth through the esophagus into the stomach, where it is mixed with digestive enzymes and acids to break down food particles.

The contents are then emptied into the small intestine, where nutrients are absorbed, and the remaining waste products are moved into the large intestine for further absorption of water and electrolytes and eventual elimination through the rectum and anus.

Gastrointestinal motility is controlled by a complex interplay between the autonomic nervous system, hormones, and local reflexes. Abnormalities in gastrointestinal motility can lead to various symptoms such as bloating, abdominal pain, nausea, vomiting, diarrhea, or constipation.

Purinergic agents are substances that act on purinergic receptors, which are a type of cell surface receptor found in many organs and tissues throughout the body. These receptors are activated by endogenous molecules called purines, including adenosine triphosphate (ATP) and adenosine diphosphate (ADP), as well as uridine triphosphate (UTP) and other related compounds.

Purinergic agents can be either agonists or antagonists of purinergic receptors. Agonists are molecules that bind to the receptor and activate it, leading to a physiological response. Antagonists, on the other hand, bind to the receptor but do not activate it, instead blocking the ability of agonists to bind and activate the receptor.

Purinergic agents have a wide range of therapeutic applications, including in the treatment of cardiovascular diseases, neurological disorders, inflammatory conditions, and pain management. For example, certain purinergic agonists can be used to induce vasodilation and improve blood flow, while antagonists may be useful in treating conditions such as chronic pain or epilepsy.

It's worth noting that the study of purinergic signaling is a rapidly evolving field, and new insights into the roles of purinergic agents in various physiological processes are being discovered regularly.

The ependyma is a type of epithelial tissue that lines the ventricular system of the brain and the central canal of the spinal cord. These cells are specialized glial cells that help to form the blood-brain barrier, regulate the cerebrospinal fluid (CSF) composition, and provide support and protection for the nervous tissue.

Ependymal cells have a cuboidal or columnar shape and possess numerous cilia on their apical surface, which helps to circulate CSF within the ventricles. They also have tight junctions that help to form the blood-brain barrier and prevent the passage of harmful substances from the blood into the CSF.

In addition to their role in maintaining the integrity of the CNS, ependymal cells can also differentiate into other types of cells, such as neurons and glial cells, under certain conditions. This property has made them a topic of interest in regenerative medicine and the study of neurodevelopmental disorders.

Manometry is a medical test that measures pressure inside various parts of the gastrointestinal tract. It is often used to help diagnose digestive disorders such as achalasia, gastroparesis, and irritable bowel syndrome. During the test, a thin, flexible tube called a manometer is inserted through the mouth or rectum and into the area being tested. The tube is connected to a machine that measures and records pressure readings. These readings can help doctors identify any abnormalities in muscle function or nerve reflexes within the digestive tract.

Kartagener Syndrome is a rare genetic disorder that primarily affects the respiratory system. It is characterized by the triad of chronic sinusitis, bronchiectasis (damage and widening of the airways in the lungs), and situs inversus totalis - a condition where the major visceral organs are mirrored or reversed from their normal positions.

In Kartagener Syndrome, the cilia (tiny hair-like structures) lining the respiratory tract are abnormal or dysfunctional, which impairs their ability to clear mucus and other particles. This leads to recurrent respiratory infections, bronchiectasis, and ultimately, progressive lung damage.

The condition is inherited as an autosomal recessive trait, meaning that an individual must inherit two copies of the defective gene - one from each parent - to develop the syndrome. Kartagener Syndrome is a subtype of primary ciliary dyskinesia (PCD), a group of disorders affecting ciliary structure and function.

The otolithic membrane is a part of the inner ear's vestibular system, which contributes to our sense of balance and spatial orientation. It is composed of a gelatinous material containing tiny calcium carbonate crystals called otoconia or otoliths. These crystals provide weight to the membrane, allowing it to detect linear acceleration and gravity-induced head movements.

There are two otolithic membranes in each inner ear, located within the utricle and saccule, two of the three main vestibular organs. The utricle is primarily responsible for detecting horizontal movement and head tilts, while the saccule senses vertical motion and linear acceleration.

Damage to the otolithic membrane can result in balance disorders, vertigo, or dizziness.

Diffuse Esophageal Spasm (DES) is a motility disorder of the esophagus, which is the muscular tube that connects the throat to the stomach. In DES, the esophagus involuntarily and uncoordinately contracts, causing difficulty swallowing (dysphagia), chest pain, and sometimes regurgitation of food or liquids.

The term "diffuse" refers to the fact that these spasms can occur throughout the entire length of the esophagus, rather than being localized to a specific area. The exact cause of diffuse esophageal spasm is not known, but it may be associated with abnormalities in the nerve cells that control muscle contractions in the esophagus.

Diagnosis of DES typically involves a combination of medical history, physical examination, and specialized tests such as esophageal manometry or ambulatory 24-hour pH monitoring. Treatment options may include medications to relax the esophageal muscles, lifestyle modifications such as avoiding trigger foods, and in some cases, surgery.

Cyclic nucleotide-regulated protein kinases are a group of enzymes that play a crucial role in intracellular signaling pathways. They are activated by the binding of cyclic nucleotides, such as cyclic adenosine monophosphate (cAMP) or cyclic guanosine monophosphate (cGMP), to their regulatory subunits.

Once activated, these kinases phosphorylate specific serine and/or threonine residues on target proteins, which can alter their activity, localization, or stability. This, in turn, can lead to a wide range of cellular responses, including changes in gene expression, metabolism, and cell growth and differentiation.

There are several subfamilies of cyclic nucleotide-regulated protein kinases, including:

1. Cyclic AMP-dependent protein kinase (PKA): This enzyme is activated by cAMP and plays a central role in many signaling pathways involved in metabolism, gene expression, and cell growth and differentiation.
2. Cyclic GMP-dependent protein kinase (PKG): This enzyme is activated by cGMP and is involved in various physiological processes, such as smooth muscle relaxation, platelet aggregation, and photoreceptor signaling.
3. Cyclic nucleotide-gated ion channels: These are a class of ion channels that are directly gated by cyclic nucleotides. They play important roles in sensory transduction, including olfaction and phototransduction.
4. Exchange proteins directly activated by cAMP (EPAC): These enzymes are activated by cAMP and function as guanine nucleotide exchange factors for the small GTPase Rap1, which is involved in various cellular processes, such as cell adhesion, migration, and differentiation.

Overall, cyclic nucleotide-regulated protein kinases are essential components of many signaling pathways that regulate diverse cellular functions. Dysregulation of these enzymes has been implicated in various diseases, including cancer, cardiovascular disease, and neurological disorders.

Esophageal achalasia is a rare disorder of the esophagus, the tube that carries food from the mouth to the stomach. In this condition, the muscles at the lower end of the esophagus fail to relax properly during swallowing, making it difficult for food and liquids to pass into the stomach. This results in symptoms such as difficulty swallowing (dysphagia), regurgitation of food, chest pain, and weight loss. The cause of esophageal achalasia is not fully understood, but it is believed to be related to damage to the nerves that control the muscles of the esophagus. Treatment options include medications to relax the lower esophageal sphincter, botulinum toxin injections, and surgical procedures such as laparoscopic Heller myotomy or peroral endoscopic myotomy (POEM).

Interstitial Cells of Cajal (ICCs) are specialized cells found in the walls of the gastrointestinal tract, as well as in other organs such as the urinary and vascular systems. They play a crucial role in regulating the motility of the digestive system by acting as pacemakers and mediators of nerve impulses that control muscle contractions. ICCs have a unique morphology, characterized by numerous extensions and a large number of mitochondria, which allow them to generate electrical signals and communicate with surrounding cells. They are named after Santiago Ramón y Cajal, the Spanish histologist who first described these cells in the late 19th century.

Dyneins are a type of motor protein that play an essential role in the movement of cellular components and structures within eukaryotic cells. They are responsible for generating force and motion along microtubules, which are critical components of the cell's cytoskeleton. Dyneins are involved in various cellular processes, including intracellular transport, organelle positioning, and cell division.

There are several types of dyneins, but the two main categories are cytoplasmic dyneins and axonemal dyneins. Cytoplasmic dyneins are responsible for moving various cargoes, such as vesicles, organelles, and mRNA complexes, toward the minus-end of microtubules, which is usually located near the cell center. Axonemal dyneins, on the other hand, are found in cilia and flagella and are responsible for their movement by sliding adjacent microtubules past each other.

Dyneins consist of multiple subunits, including heavy chains, intermediate chains, light-intermediate chains, and light chains. The heavy chains contain the motor domain that binds to microtubules and hydrolyzes ATP to generate force. Dysfunction in dynein proteins has been linked to various human diseases, such as neurodevelopmental disorders, ciliopathies, and cancer.

Mucociliary clearance is a vital defense mechanism of the respiratory system that involves the coordinated movement of tiny hair-like structures called cilia, which are present on the surface of the respiratory epithelium, and the mucus layer. This mechanism helps to trap inhaled particles, microorganisms, and other harmful substances and move them away from the lungs towards the upper airways, where they can be swallowed or coughed out.

The cilia beat in a coordinated manner, moving in a wave-like motion to propel the mucus layer upwards. This continuous movement helps to clear the airways of any debris and maintain a clean and healthy respiratory system. Mucociliary clearance plays an essential role in preventing respiratory infections and maintaining lung function. Any impairment in this mechanism, such as due to smoking or certain respiratory conditions, can increase the risk of respiratory infections and other related health issues.

Peristalsis is an involuntary muscular movement that occurs in the digestive tract, including the esophagus, stomach, and intestines. It is characterized by alternate contraction and relaxation of the smooth muscles in the walls of these organs, which creates a wave-like motion that helps propel food, fluids, and waste through the digestive system.

The process of peristalsis begins with a narrowing or constriction of the muscle in one area of the digestive tract, followed by a relaxation of the muscle in the adjacent area. This creates a localized contraction that moves along the length of the organ, pushing its contents forward. The wave of contractions continues to move along the digestive tract until it reaches the anus, where waste is eliminated from the body.

Peristalsis plays a crucial role in maintaining proper digestion and absorption of nutrients, as well as in the elimination of waste products from the body. Disorders that affect peristalsis, such as gastrointestinal motility disorders, can lead to symptoms such as abdominal pain, bloating, constipation, or diarrhea.

Esophageal diseases refer to a range of medical conditions that affect the esophagus, which is the muscular tube that connects the throat to the stomach. Here are some common esophageal diseases with their brief definitions:

1. Gastroesophageal reflux disease (GERD): A chronic condition in which stomach acid or bile flows back into the esophagus, causing symptoms such as heartburn, chest pain, and difficulty swallowing.
2. Esophagitis: Inflammation of the esophageal lining, often caused by GERD, infection, or medication.
3. Esophageal stricture: Narrowing of the esophagus due to scarring or inflammation, which can make swallowing difficult.
4. Esophageal cancer: Cancer that forms in the tissues of the esophagus, often as a result of long-term GERD or smoking.
5. Esophageal motility disorders: Disorders that affect the normal movement and function of the esophagus, such as achalasia, diffuse spasm, and nutcracker esophagus.
6. Barrett's esophagus: A condition in which the lining of the lower esophagus changes, increasing the risk of esophageal cancer.
7. Esophageal diverticula: Small pouches that form in the esophageal wall, often causing difficulty swallowing or regurgitation.
8. Eosinophilic esophagitis (EoE): A chronic immune-mediated disorder characterized by inflammation of the esophagus due to an allergic reaction.

These are some of the common esophageal diseases, and their diagnosis and treatment may vary depending on the severity and underlying cause of the condition.

Intestinal pseudo-obstruction, also known as paralytic ileus or functional obstruction, is a gastrointestinal motility disorder characterized by the absence of mechanical obstruction in the intestines, but with symptoms mimicking a mechanical small bowel obstruction. These symptoms may include abdominal distention, cramping, nausea, vomiting, and constipation or difficulty passing stools.

The condition is caused by impaired intestinal motility due to dysfunction of the nerves or muscles that control the movement of food and waste through the digestive system. It can be a chronic or acute condition and may occur as a primary disorder or secondary to other medical conditions, such as surgery, trauma, infections, metabolic disorders, neurological diseases, or certain medications.

Diagnosis of intestinal pseudo-obstruction typically involves imaging studies, such as X-rays or CT scans, to rule out mechanical obstruction and confirm the presence of dilated bowel loops. Manometry and other specialized tests may also be used to assess intestinal motility. Treatment options include medications to stimulate intestinal motility, dietary modifications, and in severe cases, surgery or intravenous nutrition.

The esophagus is the muscular tube that connects the throat (pharynx) to the stomach. It is located in the midline of the neck and chest, passing through the diaphragm to enter the abdomen and join the stomach. The main function of the esophagus is to transport food and liquids from the mouth to the stomach for digestion.

The esophagus has a few distinct parts: the upper esophageal sphincter (a ring of muscle that separates the esophagus from the throat), the middle esophagus, and the lower esophageal sphincter (another ring of muscle that separates the esophagus from the stomach). The lower esophageal sphincter relaxes to allow food and liquids to enter the stomach and then contracts to prevent stomach contents from flowing back into the esophagus.

The walls of the esophagus are made up of several layers, including mucosa (a moist tissue that lines the inside of the tube), submucosa (a layer of connective tissue), muscle (both voluntary and involuntary types), and adventitia (an outer layer of connective tissue).

Common conditions affecting the esophagus include gastroesophageal reflux disease (GERD), Barrett's esophagus, esophageal cancer, esophageal strictures, and eosinophilic esophagitis.

Gastroparesis is a gastrointestinal disorder that affects the stomach's normal motility, resulting in the delayed emptying of food from the stomach into the small intestine. The term "gastroparesis" literally means "stomach paralysis," although the stomach doesn't actually become paralyzed in this condition. Instead, the muscles of the stomach wall become weakened or damaged, leading to a decrease in their ability to contract and push food through the digestive tract effectively.

The causes of gastroparesis can vary, but some common reasons include diabetes (both type 1 and type 2), viral infections, surgery involving the vagus nerve (which controls stomach muscle contractions), certain medications (such as narcotics, antidepressants, and high blood pressure drugs), gastroesophageal reflux disease (GERD), scleroderma, Parkinson's disease, multiple sclerosis, and Amyloidosis.

Symptoms of gastroparesis may include nausea, vomiting, feeling full quickly after starting to eat, bloating, heartburn, abdominal pain, lack of appetite, and unintended weight loss. These symptoms can significantly impact a person's quality of life and make it difficult for them to maintain proper nutrition.

Diagnosis typically involves a thorough medical history, physical examination, and various tests such as upper endoscopy, gastric emptying studies (such as the scintigraphy scan), and manometry to assess stomach muscle function. Treatment options may include dietary modifications, medications to stimulate stomach contractions or reduce symptoms like nausea and vomiting, botulinum toxin injections, electrical stimulation of the stomach muscles, or, in severe cases, feeding tubes or surgery.

Chlamydomonas reinhardtii is a species of single-celled, freshwater green algae. It is commonly used as a model organism in scientific research due to its simple unicellular structure and the ease with which it can be genetically manipulated. C. reinhardtii has a single, large chloroplast that contains both photosynthetic pigments and a nucleomorph, a remnant of a secondary endosymbiotic event where another alga was engulfed by an ancestral eukaryote. This species is capable of both phototactic and photophobic responses, allowing it to move towards or away from light sources. Additionally, C. reinhardtii has two flagella for locomotion, making it a popular subject for ciliary and flagellar research. It undergoes closed mitosis within its single, diploid nucleus, which is surrounded by a cell wall composed of glycoproteins. The genome of C. reinhardtii has been fully sequenced, providing valuable insights into the molecular mechanisms underlying photosynthesis, flagellar assembly, and other fundamental biological processes.

The trachea, also known as the windpipe, is a tube-like structure in the respiratory system that connects the larynx (voice box) to the bronchi (the two branches leading to each lung). It is composed of several incomplete rings of cartilage and smooth muscle, which provide support and flexibility. The trachea plays a crucial role in directing incoming air to the lungs during inspiration and outgoing air to the larynx during expiration.

Gastrointestinal diseases refer to a group of conditions that affect the gastrointestinal (GI) tract, which includes the organs from the mouth to the anus, responsible for food digestion, absorption, and elimination of waste. These diseases can affect any part of the GI tract, causing various symptoms such as abdominal pain, bloating, diarrhea, constipation, nausea, vomiting, and weight loss.

Common gastrointestinal diseases include:

1. Gastroesophageal reflux disease (GERD) - a condition where stomach acid flows back into the esophagus, causing heartburn and other symptoms.
2. Peptic ulcers - sores that develop in the lining of the stomach or duodenum, often caused by bacterial infection or long-term use of nonsteroidal anti-inflammatory drugs (NSAIDs).
3. Inflammatory bowel disease (IBD) - a group of chronic inflammatory conditions of the intestine, including Crohn's disease and ulcerative colitis.
4. Irritable bowel syndrome (IBS) - a functional gastrointestinal disorder characterized by abdominal pain, bloating, and altered bowel habits.
5. Celiac disease - an autoimmune disorder where the ingestion of gluten leads to damage in the small intestine.
6. Diverticular disease - a condition that affects the colon, causing diverticula (small pouches) to form and potentially become inflamed or infected.
7. Constipation - a common gastrointestinal symptom characterized by infrequent bowel movements, hard stools, and difficulty passing stools.
8. Diarrhea - a common gastrointestinal symptom characterized by loose, watery stools and frequent bowel movements.
9. Food intolerances and allergies - adverse reactions to specific foods or food components that can cause various gastrointestinal symptoms.
10. Gastrointestinal infections - caused by bacteria, viruses, parasites, or fungi that can lead to a range of symptoms, including diarrhea, vomiting, and abdominal pain.

Gastric emptying is the process by which the stomach empties its contents into the small intestine. In medical terms, it refers to the rate and amount of food that leaves the stomach and enters the duodenum, which is the first part of the small intestine. This process is regulated by several factors, including the volume and composition of the meal, hormonal signals, and neural mechanisms. Abnormalities in gastric emptying can lead to various gastrointestinal symptoms and disorders, such as gastroparesis, where the stomach's ability to empty food is delayed.

Sperm motility is the ability of sperm to move actively and effectively through the female reproductive tract towards the egg for fertilization. It is typically measured as the percentage of moving sperm in a sample, and their progressiveness or velocity. Normal human sperm motility is generally defined as forward progression of at least 25 micrometers per second, with at least 50% of sperm showing progressive motility. Reduced sperm motility, also known as asthenozoospermia, can negatively impact fertility and reproductive outcomes.

The enteric nervous system (ENS) is a part of the autonomic nervous system that directly controls the gastrointestinal tract, including the stomach, small intestine, colon, and rectum. It is sometimes referred to as the "second brain" because it can operate independently of the central nervous system (CNS).

The ENS contains around 500 million neurons that are organized into two main plexuses: the myenteric plexus, which lies between the longitudinal and circular muscle layers of the gut, and the submucosal plexus, which is located in the submucosa. These plexuses contain various types of neurons that are responsible for regulating gastrointestinal motility, secretion, and blood flow.

The ENS can communicate with the CNS through afferent nerve fibers that transmit information about the state of the gut to the brain, and efferent nerve fibers that carry signals from the brain back to the ENS. However, the ENS is also capable of functioning independently of the CNS, allowing it to regulate gastrointestinal functions in response to local stimuli such as food intake, inflammation, or infection.

A spasm is a sudden, involuntary contraction or tightening of a muscle, group of muscles, or a hollow organ such as the ureter or bronchi. Spasms can occur as a result of various factors including muscle fatigue, injury, irritation, or abnormal nerve activity. They can cause pain and discomfort, and in some cases, interfere with normal bodily functions. For example, a spasm in the bronchi can cause difficulty breathing, while a spasm in the ureter can cause severe pain and may lead to a kidney stone blockage. The treatment for spasms depends on the underlying cause and may include medication, physical therapy, or lifestyle changes.

In the context of medicine and healthcare, "movement" refers to the act or process of changing physical location or position. It involves the contraction and relaxation of muscles, which allows for the joints to move and the body to be in motion. Movement can also refer to the ability of a patient to move a specific body part or limb, which is assessed during physical examinations. Additionally, "movement" can describe the progression or spread of a disease within the body.

A myoelectric complex is a group of electromyographic (EMG) signals that are recorded from muscles during a specific physiological process. These signals can provide information about the electrical activity of the muscle and its functional state.

A migrating myoelectric complex (MMC), also known as a migrating motor complex, is a pattern of muscle contractions that occurs in the gastrointestinal (GI) tract during periods of fasting. These complexes are responsible for cleaning out the GI tract and preparing it for the next meal.

An MMC typically consists of four phases: phase I, which is a period of quiescence; phase II, which is characterized by irregular muscle contractions; phase III, which is a period of strong, rhythmic contractions that sweep through the GI tract; and phase IV, which is a transition phase back to phase I.

The term "migrating" refers to the fact that these complexes move along the GI tract at a rate of about 1-2 cm/min. This allows them to effectively clean out the entire length of the GI tract during periods of fasting.

It is important to note that dysfunction of MMCs has been implicated in various gastrointestinal disorders, such as gastroparesis and irritable bowel syndrome (IBS).

Deglutition disorders, also known as swallowing disorders, are conditions that affect the ability to move food or liquids from the mouth to the stomach safely and efficiently. These disorders can occur at any stage of the swallowing process, which includes oral preparation (chewing and manipulating food in the mouth), pharyngeal phase (activating muscles and structures in the throat to move food toward the esophagus), and esophageal phase (relaxing and contracting the esophagus to propel food into the stomach).

Symptoms of deglutition disorders may include coughing or choking during or after eating, difficulty initiating a swallow, food sticking in the throat or chest, regurgitation, unexplained weight loss, and aspiration (inhaling food or liquids into the lungs), which can lead to pneumonia.

Deglutition disorders can be caused by various factors, such as neurological conditions (e.g., stroke, Parkinson's disease, multiple sclerosis), structural abnormalities (e.g., narrowing or blockage of the esophagus), muscle weakness or dysfunction, and cognitive or behavioral issues. Treatment for deglutition disorders may involve dietary modifications, swallowing exercises, medications, or surgical interventions, depending on the underlying cause and severity of the condition.

Domperidone is a medication that belongs to the class of dopamine antagonists. It works by blocking the action of dopamine, a chemical in the brain that can cause nausea and vomiting. Domperidone is primarily used to treat symptoms of gastroesophageal reflux disease (GERD) and gastric motility disorders, including bloating, fullness, and regurgitation. It works by increasing the contractions of the stomach muscles, which helps to move food and digestive juices through the stomach more quickly.

Domperidone is available in various forms, such as tablets, suspension, and injection. The medication is generally well-tolerated, but it can cause side effects such as dry mouth, diarrhea, headache, and dizziness. In rare cases, domperidone may cause more serious side effects, including irregular heart rhythms, tremors, or muscle stiffness.

It is important to note that domperidone has a risk of causing cardiac arrhythmias, particularly at higher doses and in patients with pre-existing heart conditions. Therefore, it should be used with caution and only under the supervision of a healthcare professional.

Constipation is a condition characterized by infrequent bowel movements or difficulty in passing stools that are often hard and dry. The medical definition of constipation varies, but it is generally defined as having fewer than three bowel movements in a week. In addition to infrequent bowel movements, other symptoms of constipation can include straining during bowel movements, feeling like you haven't completely evacuated your bowels, and experiencing hard or lumpy stools.

Constipation can have many causes, including a low-fiber diet, dehydration, certain medications, lack of physical activity, and underlying medical conditions such as irritable bowel syndrome or hypothyroidism. In most cases, constipation can be treated with lifestyle changes, such as increasing fiber intake, drinking more water, and getting regular exercise. However, if constipation is severe, persistent, or accompanied by other symptoms, it's important to seek medical attention to rule out any underlying conditions that may require treatment.

Intestinal diseases refer to a wide range of conditions that affect the function or structure of the small intestine, large intestine (colon), or both. These diseases can cause various symptoms such as abdominal pain, diarrhea, constipation, bloating, nausea, vomiting, and weight loss. They can be caused by infections, inflammation, genetic disorders, or other factors. Some examples of intestinal diseases include inflammatory bowel disease (IBD), irritable bowel syndrome (IBS), celiac disease, Crohn's disease, ulcerative colitis, and intestinal infections. The specific medical definition may vary depending on the context and the specific condition being referred to.

Anti-dyskinetic agents are a class of medications that are used to treat or manage dyskinesias, which are involuntary movements or abnormal muscle contractions. These medications work by blocking or reducing the activity of dopamine, a neurotransmitter in the brain that is involved in movement control.

Dyskinetic symptoms can occur as a side effect of long-term use of levodopa therapy in patients with Parkinson's disease. Anti-dyskinetic agents such as amantadine, anticholinergics, and dopamine agonists may be used to manage these symptoms.

Amantadine works by increasing the release of dopamine and blocking its reuptake, which can help reduce dyskinesias. Anticholinergic medications such as trihexyphenidyl and benztropine work by blocking the action of acetylcholine, another neurotransmitter that can contribute to dyskinesias. Dopamine agonists such as pramipexole and ropinirole mimic the effects of dopamine in the brain and can help reduce dyskinesias by reducing the dose of levodopa required for symptom control.

It is important to note that anti-dyskinetic agents may have side effects, and their use should be carefully monitored by a healthcare provider.

The esophagogastric junction (EGJ) is the region of the gastrointestinal tract where the esophagus (the tube that carries food from the mouth to the stomach) meets the stomach. It serves as a physiological sphincter, which helps control the direction of flow and prevent reflux of gastric contents back into the esophagus. The EGJ is also known as the gastroesophageal junction or cardia.

Deglutition is the medical term for swallowing. It refers to the process by which food or liquid is transferred from the mouth to the stomach through a series of coordinated muscle movements and neural responses. The deglutition process involves several stages, including oral preparatory, oral transit, pharyngeal, and esophageal phases, each of which plays a critical role in ensuring safe and efficient swallowing.

Dysphagia is the medical term for difficulty with swallowing, which can result from various underlying conditions such as neurological disorders, structural abnormalities, or muscular weakness. Proper evaluation and management of deglutition disorders are essential to prevent complications such as aspiration pneumonia, malnutrition, and dehydration.

Smooth muscle, also known as involuntary muscle, is a type of muscle that is controlled by the autonomic nervous system and functions without conscious effort. These muscles are found in the walls of hollow organs such as the stomach, intestines, bladder, and blood vessels, as well as in the eyes, skin, and other areas of the body.

Smooth muscle fibers are shorter and narrower than skeletal muscle fibers and do not have striations or sarcomeres, which give skeletal muscle its striped appearance. Smooth muscle is controlled by the autonomic nervous system through the release of neurotransmitters such as acetylcholine and norepinephrine, which bind to receptors on the smooth muscle cells and cause them to contract or relax.

Smooth muscle plays an important role in many physiological processes, including digestion, circulation, respiration, and elimination. It can also contribute to various medical conditions, such as hypertension, gastrointestinal disorders, and genitourinary dysfunction, when it becomes overactive or underactive.

The myenteric plexus, also known as Auerbach's plexus, is a component of the enteric nervous system located in the wall of the gastrointestinal tract. It is a network of nerve cells (neurons) and supporting cells (neuroglia) that lies between the inner circular layer and outer longitudinal muscle layers of the digestive system's muscularis externa.

The myenteric plexus plays a crucial role in controlling gastrointestinal motility, secretion, and blood flow, primarily through its intrinsic nerve circuits called reflex arcs. These reflex arcs regulate peristalsis (the coordinated muscle contractions that move food through the digestive tract) and segmentation (localized contractions that mix and churn the contents within a specific region of the gut).

Additionally, the myenteric plexus receives input from both the sympathetic and parasympathetic divisions of the autonomic nervous system, allowing for central nervous system regulation of gastrointestinal functions. Dysfunction in the myenteric plexus has been implicated in various gastrointestinal disorders, such as irritable bowel syndrome, achalasia, and intestinal pseudo-obstruction.

Bipolar disorder, also known as manic-depressive illness, is a mental health condition that causes extreme mood swings that include emotional highs (mania or hypomania) and lows (depression). When you become depressed, you may feel sad or hopeless and lose interest or pleasure in most activities. When your mood shifts to mania or hypomania (a less severe form of mania), you may feel euphoric, full of energy, or unusually irritable. These mood swings can significantly affect your job, school, relationships, and overall quality of life.

Bipolar disorder is typically characterized by the presence of one or more manic or hypomanic episodes, often accompanied by depressive episodes. The episodes may be separated by periods of normal mood, but in some cases, a person may experience rapid cycling between mania and depression.

There are several types of bipolar disorder, including:

* Bipolar I Disorder: This type is characterized by the occurrence of at least one manic episode, which may be preceded or followed by hypomanic or major depressive episodes.
* Bipolar II Disorder: This type involves the presence of at least one major depressive episode and at least one hypomanic episode, but no manic episodes.
* Cyclothymic Disorder: This type is characterized by numerous periods of hypomania and depression that are not severe enough to meet the criteria for a full manic or depressive episode.
* Other Specified and Unspecified Bipolar and Related Disorders: These categories include bipolar disorders that do not fit the criteria for any of the other types.

The exact cause of bipolar disorder is unknown, but it appears to be related to a combination of genetic, environmental, and neurochemical factors. Treatment typically involves a combination of medication, psychotherapy, and lifestyle changes to help manage symptoms and prevent relapses.

Gastroesophageal reflux (GER) is the retrograde movement of stomach contents into the esophagus, which can cause discomfort and symptoms. It occurs when the lower esophageal sphincter (a ring of muscle between the esophagus and stomach) relaxes inappropriately, allowing the acidic or non-acidic gastric contents to flow back into the esophagus.

Gastroesophageal reflux becomes gastroesophageal reflux disease (GERD) when it is more severe, persistent, and/or results in complications such as esophagitis, strictures, or Barrett's esophagus. Common symptoms of GERD include heartburn, regurgitation, chest pain, difficulty swallowing, and chronic cough or hoarseness.

The gastrointestinal (GI) tract, also known as the digestive tract, is a continuous tube that starts at the mouth and ends at the anus. It is responsible for ingesting, digesting, absorbing, and excreting food and waste materials. The GI tract includes the mouth, esophagus, stomach, small intestine (duodenum, jejunum, ileum), large intestine (cecum, colon, rectum, anus), and accessory organs such as the liver, gallbladder, and pancreas. The primary function of this system is to process and extract nutrients from food while also protecting the body from harmful substances, pathogens, and toxins.

In anatomical terms, the stomach is a muscular, J-shaped organ located in the upper left portion of the abdomen. It is part of the gastrointestinal tract and plays a crucial role in digestion. The stomach's primary functions include storing food, mixing it with digestive enzymes and hydrochloric acid to break down proteins, and slowly emptying the partially digested food into the small intestine for further absorption of nutrients.

The stomach is divided into several regions, including the cardia (the area nearest the esophagus), the fundus (the upper portion on the left side), the body (the main central part), and the pylorus (the narrowed region leading to the small intestine). The inner lining of the stomach, called the mucosa, is protected by a layer of mucus that prevents the digestive juices from damaging the stomach tissue itself.

In medical contexts, various conditions can affect the stomach, such as gastritis (inflammation of the stomach lining), peptic ulcers (sores in the stomach or duodenum), gastroesophageal reflux disease (GERD), and stomach cancer. Symptoms related to the stomach may include abdominal pain, bloating, nausea, vomiting, heartburn, and difficulty swallowing.

Muscle contraction is the physiological process in which muscle fibers shorten and generate force, leading to movement or stability of a body part. This process involves the sliding filament theory where thick and thin filaments within the sarcomeres (the functional units of muscles) slide past each other, facilitated by the interaction between myosin heads and actin filaments. The energy required for this action is provided by the hydrolysis of adenosine triphosphate (ATP). Muscle contractions can be voluntary or involuntary, and they play a crucial role in various bodily functions such as locomotion, circulation, respiration, and posture maintenance.

In medical terms, pressure is defined as the force applied per unit area on an object or body surface. It is often measured in millimeters of mercury (mmHg) in clinical settings. For example, blood pressure is the force exerted by circulating blood on the walls of the arteries and is recorded as two numbers: systolic pressure (when the heart beats and pushes blood out) and diastolic pressure (when the heart rests between beats).

Pressure can also refer to the pressure exerted on a wound or incision to help control bleeding, or the pressure inside the skull or spinal canal. High or low pressure in different body systems can indicate various medical conditions and require appropriate treatment.

Ocular motility disorders refer to a group of conditions that affect the movement of the eyes. These disorders can result from nerve damage, muscle dysfunction, or brain injuries. They can cause abnormal eye alignment, limited range of motion, and difficulty coordinating eye movements. Common symptoms include double vision, blurry vision, strabismus (crossed eyes), nystagmus (involuntary eye movement), and difficulty tracking moving objects. Ocular motility disorders can be congenital or acquired and may require medical intervention to correct or manage the condition.

The colon, also known as the large intestine, is a part of the digestive system in humans and other vertebrates. It is an organ that eliminates waste from the body and is located between the small intestine and the rectum. The main function of the colon is to absorb water and electrolytes from digested food, forming and storing feces until they are eliminated through the anus.

The colon is divided into several regions, including the cecum, ascending colon, transverse colon, descending colon, sigmoid colon, rectum, and anus. The walls of the colon contain a layer of muscle that helps to move waste material through the organ by a process called peristalsis.

The inner surface of the colon is lined with mucous membrane, which secretes mucus to lubricate the passage of feces. The colon also contains a large population of bacteria, known as the gut microbiota, which play an important role in digestion and immunity.

A mental disorder is a syndrome characterized by clinically significant disturbance in an individual's cognition, emotion regulation, or behavior. It's associated with distress and/or impaired functioning in social, occupational, or other important areas of life, often leading to a decrease in quality of life. These disorders are typically persistent and can be severe and disabling. They may be related to factors such as genetics, early childhood experiences, or trauma. Examples include depression, anxiety disorders, bipolar disorder, schizophrenia, and personality disorders. It's important to note that a diagnosis should be made by a qualified mental health professional.

Anxiety disorders are a category of mental health disorders characterized by feelings of excessive and persistent worry, fear, or anxiety that interfere with daily activities. They include several different types of disorders, such as:

1. Generalized Anxiety Disorder (GAD): This is characterized by chronic and exaggerated worry and tension, even when there is little or nothing to provoke it.
2. Panic Disorder: This is characterized by recurring unexpected panic attacks and fear of experiencing more panic attacks.
3. Social Anxiety Disorder (SAD): Also known as social phobia, this is characterized by excessive fear, anxiety, or avoidance of social situations due to feelings of embarrassment, self-consciousness, and concern about being judged or viewed negatively by others.
4. Phobias: These are intense, irrational fears of certain objects, places, or situations. When a person with a phobia encounters the object or situation they fear, they may experience panic attacks or other severe anxiety responses.
5. Agoraphobia: This is a fear of being in places where it may be difficult to escape or get help if one has a panic attack or other embarrassing or incapacitating symptoms.
6. Separation Anxiety Disorder (SAD): This is characterized by excessive anxiety about separation from home or from people to whom the individual has a strong emotional attachment (such as a parent, sibling, or partner).
7. Selective Mutism: This is a disorder where a child becomes mute in certain situations, such as at school, but can speak normally at home or with close family members.

These disorders are treatable with a combination of medication and psychotherapy (cognitive-behavioral therapy, exposure therapy). It's important to seek professional help if you suspect that you or someone you know may have an anxiety disorder.

Mood disorders are a category of mental health disorders characterized by significant and persistent changes in mood, affect, and emotional state. These disorders can cause disturbances in normal functioning and significantly impair an individual's ability to carry out their daily activities. The two primary types of mood disorders are depressive disorders (such as major depressive disorder or persistent depressive disorder) and bipolar disorders (which include bipolar I disorder, bipolar II disorder, and cyclothymic disorder).

Depressive disorders involve prolonged periods of low mood, sadness, hopelessness, and a lack of interest in activities. Individuals with these disorders may also experience changes in sleep patterns, appetite, energy levels, concentration, and self-esteem. In severe cases, they might have thoughts of death or suicide.

Bipolar disorders involve alternating episodes of mania (or hypomania) and depression. During a manic episode, individuals may feel extremely elated, energetic, or irritable, with racing thoughts, rapid speech, and impulsive behavior. They might engage in risky activities, have decreased sleep needs, and display poor judgment. In contrast, depressive episodes involve the same symptoms as depressive disorders.

Mood disorders can be caused by a combination of genetic, biological, environmental, and psychological factors. Proper diagnosis and treatment, which may include psychotherapy, medication, or a combination of both, are essential for managing these conditions and improving quality of life.

The Diagnostic and Statistical Manual of Mental Disorders (DSM) is a publication of the American Psychiatric Association (APA) that provides diagnostic criteria for mental disorders. It is widely used by mental health professionals in the United States and around the world to diagnose and classify mental health conditions.

The DSM includes detailed descriptions of symptoms, clinical examples, and specific criteria for each disorder, which are intended to facilitate accurate diagnosis and improve communication among mental health professionals. The manual is regularly updated to reflect current research and clinical practice, with the most recent edition being the DSM-5, published in 2013.

It's important to note that while the DSM is a valuable tool for mental health professionals, it is not without controversy. Some critics argue that the manual medicalizes normal human experiences and that its categories may be too broad or overlapping. Nonetheless, it remains an essential resource for clinicians, researchers, and policymakers in the field of mental health.

Cell movement, also known as cell motility, refers to the ability of cells to move independently and change their location within tissue or inside the body. This process is essential for various biological functions, including embryonic development, wound healing, immune responses, and cancer metastasis.

There are several types of cell movement, including:

1. **Crawling or mesenchymal migration:** Cells move by extending and retracting protrusions called pseudopodia or filopodia, which contain actin filaments. This type of movement is common in fibroblasts, immune cells, and cancer cells during tissue invasion and metastasis.
2. **Amoeboid migration:** Cells move by changing their shape and squeezing through tight spaces without forming protrusions. This type of movement is often observed in white blood cells (leukocytes) as they migrate through the body to fight infections.
3. **Pseudopodial extension:** Cells extend pseudopodia, which are temporary cytoplasmic projections containing actin filaments. These protrusions help the cell explore its environment and move forward.
4. **Bacterial flagellar motion:** Bacteria use a whip-like structure called a flagellum to propel themselves through their environment. The rotation of the flagellum is driven by a molecular motor in the bacterial cell membrane.
5. **Ciliary and ependymal movement:** Ciliated cells, such as those lining the respiratory tract and fallopian tubes, have hair-like structures called cilia that beat in coordinated waves to move fluids or mucus across the cell surface.

Cell movement is regulated by a complex interplay of signaling pathways, cytoskeletal rearrangements, and adhesion molecules, which enable cells to respond to environmental cues and navigate through tissues.

Mutations in this gene cause ciliary dyskinesia type 15, a disorder due to defects in cilia motility. Alternative splicing ... "Primary Ciliary Dyskinesia". PMID 20301301. {{cite journal}}: Cite journal requires ,journal= (help) Blanchon S, Legendre M, ... "Delineation of CCDC39/CCDC40 mutation spectrum and associated phenotypes in primary ciliary dyskinesia". Journal of Medical ...
Another genetic cause is primary ciliary dyskinesia, a rare disorder that leads to immotility of cilia and can lead to situs ... Bronchiectasis may result from congenital disorders that affect cilia motility or ion transport. A common genetic cause is ... Disordered neutrophil function is believed to play a role in the pathogenesis of bronchiectasis. Neutrophil extracellular traps ... It is a genetic disorder that affects the lungs, but also the pancreas, liver, kidneys, and intestine. It is caused by ...
... by Azfelius in 1976 when he showed it to be a disorder of motility of cilia and flagella, This would exclude primary cilia ( ... He is known for his eponymous contribution to the Siewert-Kartagener syndrome (Primary ciliary dyskinesia). Siewert's father ... Its characterisation as a primary ciliary dyskinesia was not made until after the advent of TEM, ...
GeneReview/NCBI/NIH/UW entry on Primary Ciliary Dyskinesia Genetic disorders of mucociliary clearance consortium This article ... which give cilia their motility, with roughly 38% of these defects caused by mutations on two genes, DNAI1 and DNAH5, both of ... Primary ciliary dyskinesia (PCD) is a rare, autosomal recessive genetic ciliopathy, that causes defects in the action of cilia ... The disorder is rarely referred to as Siewert's syndrome or Siewert-Kartagener syndrome. "DNAI1 - Dynein axonemal intermediate ...
A number of common observable characteristics of mammalian genetic disorders and diseases are caused by ciliary dysgenesis and ... sometimes coupling the signaling to ciliary motility or alternatively to cell division and differentiation." Recent advances in ... or ciliary function. Primary cilia are important in guiding the process of development, so abnormal ciliary function while an ... which localizes to mitochondria but is believed to affect ciliary function through proteolytic cleavage of ciliary proteins. ...
They may also decrease tubal motility and ciliary action. Progestogens are used in combination with estrogens in menopausal ... Progestogens are used to treat benign breast disorders. They are associated not only with a reduction in breast pain, but also ... Studies on the influence of hormonal birth control on mood in women with existing mood disorders or polycystic ovary syndrome ... 554-. ISBN 978-3-642-96158-8. Horský J, Presl J (1981). "Hormonal Treatment of Disorders of the Menstrual Cycle". In Horsky J, ...
DRC6 has been found to be involved in regulation of ciliary and flagellar motility. C6orf163 has a nuclear localization signal ... A genome-wide association study analyzing genetic predictors of long-term treatment outcome for bipolar disorder showed that ... Fabbri, Chiara; Serretti, Alessandro (2016-02-04). "Genetics of long-term treatment outcome in bipolar disorder". Progress in ... suggesting that C6orf163 may be involved in susceptibility to bipolar disorder. GRCh38: Ensembl release 89: ENSG00000203872 - ...
... sometimes coupling the signaling to ciliary motility or alternatively to cell division and differentiation." The cilium is ... can cause chronic disorders such as primary ciliary dyskinesia (PCD), nephronophthisis, and Senior-Løken syndrome. In addition ... The building blocks of the ciliary axoneme, such as tubulins, are added at the ciliary tips through a process that depends ... In mammals, disruption of the transition zone reduces the ciliary abundance of membrane-associated ciliary proteins, such as ...
... is now used to treat prefrontal cortical cognitive disorders such as Attention Deficit Hyperactivity Disorder. Common effects ... The relaxation of gastrointestinal tract motility is by presynaptic inhibition, where transmitters inhibit further release by ... Decreased aqueous humor fluid production from the ciliary body The α subunit of an inhibitory G protein - Gi dissociates from ... Guanfacine's mechanism of action in treating prefrontal cortical disorders: Successful translation across species. Neurobiol ...
1993). "A motility in the eukaryotic flagellum unrelated to flagellar beating". Proc Natl Acad Sci U S A. 90 (12): 5519-23. ... These and possibly many more disorders may be better understood via study of IFT. One of the most recent discoveries regarding ... Sedmak T, Wolfrum U (April 2010). "Intraflagellar transport molecules in ciliary and nonciliary cells of the retina". J. Cell ... Intraflagellar transport (IFT) is a bidirectional motility along axoneme microtubules that is essential for the formation ( ...
... an autosomal recessive disorder.4 This X-linked disorder is characterized by recurrent respiratory infections, infertility, and ... 2006). "DNAH5 mutations are a common cause of primary ciliary dyskinesia with outer dynein arm defects". Am. J. Respir. Crit. ... 1997). "Multiple mouse chromosomal loci for dynein-based motility". Genomics. 36 (1): 29-38. doi:10.1006/geno.1996.0422. PMID ... "Entrez Gene: DNAH5 dynein, axonemal, heavy chain 5". GeneReviews/NIH/NCBI/UW entry on Primary Ciliary Dyskinesia Jouannet P, ...
The food-poisoning patients reported a variety of symptoms, including visual disorders, speech disorders, lazy eye amblyopia, ... suppression of spontaneous motility, and mydriasis in mice at intravenous (i.v.) dose levels of 0.5-1.0 mg/kg. At higher doses ... visual impairments and mydriasis due to ciliary ganglion blockade, dry mouth due to submaxillary and otic ganglion blockade, ...
Disorders of ocular muscles, binocular movement, accommodation and refraction, Mitochondrial diseases, Muscular disorders). ... Omar A, Johnson LN (2007). "Tetracycline delays ocular motility decline in chronic progressive external ophthalmoplegia". ... The ciliary muscles that control the lens shape and the iris muscles are often unaffected by CPEO.[citation needed] Additional ... Chronic progressive external ophthalmoplegia (CPEO) is a type of eye disorder characterized by slowly progressive inability to ...
This requires an active mechanism that maintains ciliary length. Impairments in these mechanisms can affect the motility of the ... Badano, J.; Mitsuma, N.; Beales, P.; Katsanis, N. (2006). "The ciliopathies: An emerging class of human genetic disorders". ... Ciliary defects can lead to a broad range of human diseases known as ciliopathies that are caused by mutations in ciliary ... The regulation of ciliary length is very important because it affects how the cell is able to use its cilia to move fluid over ...
KIF7 encodes a structural factor vital to cilial transport, and is also implicated in other developmental disorders, such as ... Cilia are microscopic projections that allow sensory input and signalling output within cells, as well as cell motility. ... Takao D, Verhey K (January 2016). "Gated entry into the ciliary compartment". Cellular and Molecular Life Sciences. 73 (1): 119 ... Hydrolethalus syndrome (HLS) is a rare genetic disorder that causes improper fetal development, resulting in birth defects and ...
This peg thus directly transfers implant motility to the artificial eye. However, the motility peg is mounted in a minority of ... The vortex veins and posterior ciliary vessels may be cauterized before dividing the nerve and removing the eye. Alternatively ... Living with an ocular prosthesis requires care, but oftentimes patients who have had incurable eye disorders, such as ... The motility of a nonintegrated artificial eye may be caused by at least two forces: The rubbing force between the posterior ...
Discoveries from this popular wave of PCP research has found its involvement in polarized ciliary beating in the trachea and ... and cell motility in epidermal wound healing. Additionally, PCP is known to be crucial to major developmental time points ... but in Fz mutants the hairs point in a disordered manner. Frizzled encodes a seven-pass transmembrane protein and because of ...
These include endocrine disorders (usually due to hypogonadism) at an estimated 2% to 5%, sperm transport disorders (such as ... In both men and women, ASA production are directed against surface antigens on sperm, which can interfere with sperm motility ... Infertility associated with viable, but immotile sperm may be caused by primary ciliary dyskinesia. The sperm must provide the ... Ovulatory disorders make up 25% of the known causes of female infertility. Oligo-ovulation or anovulation results in ...
A ciliary body was then discovered and the sclera, retina, choroid, and cornea were seen to meet at the same point. The two ... is a surgical subspecialty within medicine that deals with the diagnosis and treatment of eye disorders. An ophthalmologist is ... Visual acuity assessment Ocular tonometry to determine intraocular pressure Extraocular motility and ocular alignment ...
Beck TN, Nicolas E, Kopp MC, Golemis EA (2014). "Adaptors for disorders of the brain? The cancer signaling proteins NEDD9, ... migration and motility. Unusually, CASS4 depletion had a bimodal affect, causing some cells to have lower velocity and others ... to regulate cell cycle and ciliary resorption; it is possible that CASS4 may similarly interact with aurora-A kinase. CASS4 ... in regulation of cellular motility and migration. Because of the high degree of homology in interaction domains and some ...
Lick granuloma also known as acral lick dermatitis, is a skin disorder in dogs resulting from an urge to lick the lower portion ... Anterior uveitis (inflammation of the iris and ciliary body) is most common in dogs. The disease is usually immune-mediated in ... Megaesophagus is a disease of the esophagus characterized by low motility and dilation. Most cases in adult dogs are idiopathic ... They can also cause a neurological disorder known as tick paralysis. Mites Ear mites are microscopic members of the species ...
"Loss of heterozygosity in 7q myeloid disorders: clinical associations and genomic pathogenesis". Blood 2012, 119(25):6109-17. ... a Ciliary Gene Vicinal to the FTO Locus, Causes Increased Adiposity in Mice". Cell Metabolism. 19 (5): 767-779. doi:10.1016/j. ... signaling that enhances cancer cell motility and invasiveness". Cancer Cell 2005, 7(6):521-32. Ripka S, Neesse A, Riedel J, Bug ...
"Ophthalmic disorders in adult lymphoma patients". Middle East Afr J Ophthalmol. 17 (4): 390. doi:10.4103/0974-9233.71582. PMC ... "Leucocoria as the presenting sign of a ciliary body melanoma in a child". Br J Ophthalmol. 85 (1): 115-6. doi:10.1136/bjo.85.1. ... "New measurement device and technique for assessing implant and prosthetic motility". Ophthalmic Plast Reconstr Surg. 23 (1): 59 ... "Malignant teratoid ciliary body medulloepithelioma in a neonate". J Pediatr Ophthalmol Strabismus. 50 Online (6): e37-40. doi: ...
... which underlies certain psychiatric disorders such as autism spectrum disorders and schizophrenia. Under normal conditions, ... On the other hand, human glial precursor cells and astrocytes generated from these cells by being in contact with ciliary ... "Astrocytes in the hindbrain detect glucoprivation and regulate gastric motility". Autonomic Neuroscience. 175 (1-2): 61-9. doi: ... Astrocytes have emerged as important participants in various neurodevelopmental disorders. This view states that astrocyte ...
Ciliary neurotrophic factor (CNTF) is a cytosolic protein that is not secreted. CNTF has been shown to promote the survival of ... Intermediate filaments are an integral part of cell motility, a requirement for any large migration or cellular reaction. ... Brain disorders, Scarring). ... 1995). "A role for ciliary neurotrophic factor as an inducer of ...
Centrosome signaling contributes to the definition of cell shape, motility, orientation, polarity, division plane and to the ... "The ciliary protein nephrocystin-4 translocates the canonical Wnt regulator Jade-1 to the nucleus to negatively regulate β- ... "A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration". Cell. 125 (4): ...
2014). "Adaptors for disorders of the brain? The cancer signaling proteins NEDD9, CASS4, and PTK2B in Alzheimer's disease". ... These GTPases regulate cell motility, proliferation and also contribute to tumor progression and invasion. In many cell types, ... by influencing ciliary stability, NEDD9 is positioned to affect these signaling systems. Interaction of NEDD9 with Aurora A ... NEDD9 stabilizes formation and regulates turnover of focal adhesions, influencing cell motility and the invasion and metastasis ...
Reduced mucociliary clearance in primary ciliary dyskinesia (PCD) causes recurrent infections of the upper and lower ... Ciliary Motility Disorders / genetics* * Dyneins / genetics* * Genetic Linkage * Genetic Markers * Homozygote * Humans ... Homozygosity mapping of a gene locus for primary ciliary dyskinesia on chromosome 5p and identification of the heavy dynein ... Reduced mucociliary clearance in primary ciliary dyskinesia (PCD) causes recurrent infections of the upper and lower ...
Ciliary Motility Disorders / genetics* * Ciliary Motility Disorders / pathology * Genetic Diseases, Inborn * Humans ... The ciliopathies: an emerging class of human genetic disorders Annu Rev Genomics Hum Genet. 2006;7:125-48. doi: 10.1146/annurev ... Recent evidence indicates that ciliary defects can lead to a broader set of developmental and adult phenotypes, with mutations ... where defects in ciliary structure and function can lead to a predictable phenotypic pattern that has potentially predictive ...
Pedersen M. Specific types of abnormal ciliary motility in Kartageners syndrome and analogous respiratory disorders. A ... Patients with primary ciliary dyskinesia exhibit a wide range of defects in ciliary ultrastructure and motility, which ... Current nomenclature classifies all congenital ciliary disorders as primary ciliary dyskinesias in order to differentiate them ... Ciliary motility in immotile cilia syndrome. Chest. 1980 Oct. 78(4):580-2. [QxMD MEDLINE Link]. ...
Mutations in this gene cause ciliary dyskinesia type 15, a disorder due to defects in cilia motility. Alternative splicing ... "Primary Ciliary Dyskinesia". PMID 20301301. {{cite journal}}: Cite journal requires ,journal= (help) Blanchon S, Legendre M, ... "Delineation of CCDC39/CCDC40 mutation spectrum and associated phenotypes in primary ciliary dyskinesia". Journal of Medical ...
... "ciliary motility disorder"[tiab] OR "immotile cilia syndrome"[tiab]) OR "ciliary motility disorders"[mh]) AND (patients[tiab] ... "ciliary motility disorder"[tiab] OR "immotile cilia syndrome"[tiab]) OR "ciliary motility disorders"[mh]) AND ("clinical ... Pathophysiology of the ciliary motility syndromes. Eur J Respir Dis Suppl 1983; 127: 102-117. ... Sleep disordered breathing and airway disease in primary ciliary dyskinesia. Respirology 2014; 19: 570-575. ...
Bi-allelic variants in INTS11 are associated with a complex neurological disorder. Undiagnosed Diseases Network, Granadillo De ... Bi-allelic ATG4D variants are associated with a neurodevelopmental disorder characterized by speech and motor impairment. ...
Research Keywords: Bronchial diseases; Ciliary motility disorders; Laryngeal diseases; Lung diseases; Neuromuscular disorders; ... Research Keywords: Bronchial diseases; Ciliary motility disorders; Laryngeal diseases; Lung diseases; Neuromuscular disorders; ... Gastroesophageal reflux disease (GERD) is a common disorder in asthmatic patients and the two disorders may be linked ... Heart failure (HF) is known to be associated with sleep-disordered breathing (SDB). In addition to disturbing patients sleep, ...
Ciliary Motility Disorders. Ear Diseases. Laryngeal Diseases. Nose Diseases. Otorhinolaryngologic Neoplasms. Pharyngeal ... Use and follow the search options below to find specific genetic disorders within this category. To refine your search, select ...
Ciliary Motility Disorders 1 0 Child Behavior Disorders 1 0 Chlamydia Infections 1 0 ... Content source: Public Health Genomics Branch in the Division of Blood Disorders and Public Health Genomics, National Center on ...
Ciliary Motility Disorders 100% * Gene Dosage 80% * Cilia 79% * Alleles 41% * Phenotype 40% ... The Relationship of Attention-Deficit/Hyperactivity Disorder With Posttraumatic Stress Disorder: A Two-Sample Mendelian ... The effect of Dnaaf5 gene dosage on primary ciliary dyskinesia phenotypes. Horani, A., Gupta, D. K., Xu, J., Xu, H., Puga- ... Dutcher, S. K., Jan 1 2023, The Chlamydomonas Sourcebook: Volume 3: Cell Motility and Behavior. Elsevier, Vol. 3. p. xv-xv ...
Ciliary Motility Disorders 100% * Whole Exome Sequencing 80% * Nitric Oxide 30% * Nose 30% ... Whole-exome sequencing accuracy in the diagnosis of primary ciliary dyskinesia. Gileles-Hillel, A., Mor-Shaked, H., Shoseyov, D ...
Ciliary Motility Disorders 100% * Electron Microscopy 58% * Economics 52% * Peru 34% * Respiratory Sounds 29% ... Primary ciliary dyskinesia in children. Role of electron microscopy in countries with medium economic resources. ...
Ciliary Motility Disorders 100% * Genes 7% * Genetic Testing 10% * High-Throughput Nucleotide Sequencing 65% ... Dive into the research topics of Clinical utility of NGS diagnosis and disease stratification in a multiethnic primary ciliary ... Clinical utility of NGS diagnosis and disease stratification in a multiethnic primary ciliary dyskinesia cohort. ...
Ciliary Motility Disorders (0) * Granuloma, Respiratory Tract (0) * Laryngeal Diseases (3) * Lung Diseases (3) ...
Ciliary motility disorders are known to cause hydrocephalus. The instantaneous velocity of cerebrospinal fluid (CSF) flow is ... These findings suggest that a ciliary motility disorder could delay CSF exchange in the anterior and inferior horns of the ... We developed healthy and reduced cilia motility models based on experimental data of cilia-induced velocity in healthy wild- ... The results indicate that there is almost no difference in intraventricular pressure between healthy and reduced cilia motility ...
PRIMARY see CILIARY MOTILITY DISORDERS 1992-2001. History Note:. 2002 (1963); for CILIARY DYSKINESIA, PRIMARY use CILIARY ... Ciliary Dyskinesia, Primary, 1. Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus. Dextrocardia, Bronchiectasis, ... An autosomal recessive disorder characterized by a triad of DEXTROCARDIA; INFERTILITY; and SINUSITIS. The syndrome is caused by ... An autosomal recessive disorder characterized by a triad of DEXTROCARDIA; INFERTILITY; and SINUSITIS. The syndrome is caused by ...
Ciliary Motility Disorders. *Dyskinetic Syndrome. *Autoimmune Reaction. *Hypertrophy. *Ear Inflammation. Pathways for TTLL1 ...
Disorder, Ciliary Motility Disorder, Cocaine-Related Disorder, Cognition Disorder, Combat Disorder, Combat Stress Disorder, ... Disorders, Chromosomal Disorders, Chromosome Disorders, Chronic Fatigue Disorders, Ciliary Motility Disorders, Cocaine-Related ... Disorder, Drug Use Disorder, Dysthymic Disorder, Eczematous Disorder, Elimination Disorder, Esophageal Motility Disorder, ... Disorder, Manic Disorder, Menstruation Disorder, Mental Disorder, Migraine Disorder, Mitochondrial Disorder, Mood Disorder, ...
Ciliary Motility Disorders C16.131.77.245.500 C16.320.184.500 Ciliary Neurotrophic Factor D12.776.641.600.212 D12.776.631.600. ... Sperm Motility G4.299.283.750 G4.198.750 Sperm Transport G4.299.283.800 G4.198.800 G8.686.785.760.277.820 G8.686.784.277.820 ... Autocrine Motility Factor D12.776.543.750.68 D12.776.543.750.660 Receptors, Biogenic Amine D12.776.543.750.69 D12.776.543.750. ... Trigger Finger Disorder C5.651.869.870.800.800 C5.651.869.816.800 Trillium B1.650.940.800.575.100.610.772 B1.650.940.800. ...
Ciliary Motility Disorders C16.131.77.245.500 C16.320.184.500 Ciliary Neurotrophic Factor D12.776.641.600.212 D12.776.631.600. ... Sperm Motility G4.299.283.750 G4.198.750 Sperm Transport G4.299.283.800 G4.198.800 G8.686.785.760.277.820 G8.686.784.277.820 ... Autocrine Motility Factor D12.776.543.750.68 D12.776.543.750.660 Receptors, Biogenic Amine D12.776.543.750.69 D12.776.543.750. ... Trigger Finger Disorder C5.651.869.870.800.800 C5.651.869.816.800 Trillium B1.650.940.800.575.100.610.772 B1.650.940.800. ...
Ciliary Motility Disorders C16.131.77.245.500 C16.320.184.500 Ciliary Neurotrophic Factor D12.776.641.600.212 D12.776.631.600. ... Sperm Motility G4.299.283.750 G4.198.750 Sperm Transport G4.299.283.800 G4.198.800 G8.686.785.760.277.820 G8.686.784.277.820 ... Autocrine Motility Factor D12.776.543.750.68 D12.776.543.750.660 Receptors, Biogenic Amine D12.776.543.750.69 D12.776.543.750. ... Trigger Finger Disorder C5.651.869.870.800.800 C5.651.869.816.800 Trillium B1.650.940.800.575.100.610.772 B1.650.940.800. ...
Ciliary Motility Disorders C16.131.77.245.500 C16.320.184.500 Ciliary Neurotrophic Factor D12.776.641.600.212 D12.776.631.600. ... Sperm Motility G4.299.283.750 G4.198.750 Sperm Transport G4.299.283.800 G4.198.800 G8.686.785.760.277.820 G8.686.784.277.820 ... Autocrine Motility Factor D12.776.543.750.68 D12.776.543.750.660 Receptors, Biogenic Amine D12.776.543.750.69 D12.776.543.750. ... Trigger Finger Disorder C5.651.869.870.800.800 C5.651.869.816.800 Trillium B1.650.940.800.575.100.610.772 B1.650.940.800. ...
... and the transcription factor Foxj1 in the mouse have demonstrated that ciliary motility is important for L-R asymmetry.5 ,7 ,8 ... Disorders of left-right asymmetry: heterotaxy and situs inversus. Am J Med Genet C Semin Med Genet 2009;151C:307-17. doi: ... A human laterality disorder associated with recessive CCDC11 mutation. J Med Genet 2012;49:386-90. doi:10.1136/jmedgenet-2011- ... This disorder is often associated with anomalies of the spleen and the gastrointestinal system, such as asplenia or polysplenia ...
... affects ciliary motility, and is reduced by acetylcysteine Cystic fibrosis (CF) is the most common genetic disorder in the ...
Mutations in this gene cause ciliary dyskinesia type 15, a disorder due to defects in cilia motility. Alternative splicing ...
Further, our results point stress that ciliary motility complexes such as dynein arms are organised in a compartementalised ... mainly Exome Sequencing to unravel the underlying genetic cause of human ciliary disorders. This has led to the identification ... As DNAH9 is only required for movement of parts of the cilium, cilia motility impairment is mild. Therefore, patients with ... With regards to non-motile ciliopathies, we focus on reno-skeletal disorders such as Jeune Syndrom and Short-Rib-Polydactyly ...
Ciliary Motility Disorders. *Hypothalamic Diseases. *Bardet-Biedl Syndrome. *Hypothalamic Neoplasms. *Laurence-Moon Syndrome ... An autosomal recessive disorder characterized by RETINITIS PIGMENTOSA; POLYDACTYLY; OBESITY; MENTAL RETARDATION; hypogenitalism ...
... lack of ciliary motility in primary ciliary dyskinesia [PCD], or damage to the cilia and/or airways secondary to infection or ... Primary ciliary dyskinesia should be considered if adults with bronchiectasis also have chronic sinus disease or otitis media, ... Ciliary ultrastructure may also be normal in some patients with PCD syndromes, requiring further testing to identify abnormal ... Diffuse bronchiectasis sometimes complicates common autoimmune disorders, such as rheumatoid arthritis Rheumatoid Arthritis (RA ...
Ciliary Motility Disorders [C09.150] * Ear Diseases [C09.218] * Laryngeal Diseases [C09.400] * Nose Diseases [C09.603] ...
  • Reduced mucociliary clearance in primary ciliary dyskinesia (PCD) causes recurrent infections of the upper and lower respiratory tract. (nih.gov)
  • Consistent with their stringent evolutionary conservation, defects in cilia are associated with a range of human diseases, such as primary ciliary dyskinesia, hydrocephalus, polycystic liver and kidney disease, and some forms of retinal degeneration. (nih.gov)
  • Also see Primary Ciliary Dyskinesia (pediatrics). (medscape.com)
  • [ 5 ] coined the term primary ciliary dyskinesia (PCD) because some patients with Kartagener syndrome had cilia that were not immobile but exhibited an uncoordinated and inefficient movement pattern. (medscape.com)
  • Current nomenclature classifies all congenital ciliary disorders as primary ciliary dyskinesias in order to differentiate them from acquired types. (medscape.com)
  • Kartagener syndrome is part of the larger group of disorders referred to as primary ciliary dyskinesias. (medscape.com)
  • Approximately one half of patients with primary ciliary dyskinesia have situs inversus and, thus, are classified as having Kartagener syndrome. (medscape.com)
  • The primary function of the central sheath, radial spokes, and nexin links is to maintain the structural integrity of the cilium, whereas the dynein arms are responsible for ciliary motion. (medscape.com)
  • Few original studies have described the prevalence and severity of clinical symptoms of primary ciliary dyskinesia (PCD). (ersjournals.com)
  • Primary ciliary dyskinesia (PCD) is a rare inherited disease which affects ciliary structure and function. (ersjournals.com)
  • recessive disorder consisting of the triad of Approximately 50 % of patients with SCD sinusitis, bronchiectasis and situs inversus with have laterality defects (including situs inversus dextrocardia and represents a subgroup of totalis and, less frequently, heterotaxy and primary ciliary dyskinesia (PCD). (bvsalud.org)
  • Congenital defects in mucociliary clearance such as primary ciliary dyskinesia (PCD) syndromes may also be a cause, explaining almost 3% of previously idiopathic cases. (msdmanuals.com)
  • Defects in dynein arm function occur in Primary Ciliary Dyskinesia, a disorder affecting 1:15,000-30,000 human births. (uoregon.edu)
  • This test is for patients with primary ciliary dyskinesia, particularly those with ODA structural defects (Mazor et al. (preventiongenetics.com)
  • Primary ciliary dyskinesia (PCD) is a genetically heterogeneous disorder affecting the function of motile cilia (reviewed by Leigh et al. (preventiongenetics.com)
  • Primary ciliary dyskinesia is a genetically heterogeneous autosomal recessive disorder resulting from loss of function of different parts of the primary ciliary apparatus, most often dynein arms. (nih.gov)
  • Kartagener (pronounced KART-agayner) syndrome is characterized by the combination of primary ciliary dyskinesia and situs inversus (270100), and occurs in approximately half of patients with ciliary dyskinesia. (nih.gov)
  • Diseases causing chronic non cardiac cough are common in dogs and include chronic bronchitis, eosinophilic bronchopneumopathy, idiopathic pulmonary fibrosis of terriers, recurrent bacterial bronchopneumonia related to chronic and repeated aspiration or to anatomic disorders such as primary ciliary dyskinesia, and others. (vin.com)
  • Primary ciliary dyskinesia happens due to the mutation of DNAH5 gene that leads to asthenozoospermia. (novaivffertility.com)
  • Everything you need to know about primary ciliary dyskinesia (PCD)! (pcdfoundation.org)
  • There have been a number of changes that reflect an evolving understanding of what causes the symptoms in what is now called primary ciliary dyskinesia (PCD). (pcdfoundation.org)
  • Zebrafish Ciliopathy Screen Plus Human Mutational Analysis Identifies C21orf59 and CCDC65 Defects as Causing Primary Ciliary Dyskinesia. (xenbase.org)
  • Some studies have suggested a role for this protein in maintaining centriole-nucleated sensory organelles termed primary cilia, and AS is now considered to belong to the growing class of human genetic disorders linked to ciliary dysfunction (ciliopathies). (springer.com)
  • Primary ciliary dyskinesia (PCD) is a recessively inherited disease that leads to chronic respiratory disorders owing to impaired mucociliary clearance. (humantechnopole.it)
  • Leigh MW, Zariwala MA, Knowles MR. Primary ciliary dyskinesia: improving the diagnostic approach. (5minuteconsult.com)
  • Naturally occurring mutations in this gene are associated with primary ciliary dyskinesia and multiple morphological anomalies of the flagella that result in asthenozoospermia and male infertility. (nih.gov)
  • Primary Ciliary Dyskinesia (PCD) is a disorder found to affect formation of the tiny hairs in the respiratory system called cilia, resulting in recurrent respiratory tract infections. (wisdompanel.com)
  • If primary ciliary dyskinesia is associated with situs inversus (mirrored internal organs), the condition is called Kartagener syndrome. (wisdompanel.com)
  • Afzelius proposed that normal ciliary beating is necessary for visceral rotation during embryonic development. (medscape.com)
  • Conventional transmission electron microscopy (TEM) is a diagnostic standard to identify ultrastructural defects in respiratory cilia but is not useful in approximately 30% of PCD cases, which have normal ciliary ultrastructure. (humantechnopole.it)
  • CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs. (wisdompanel.com)
  • Symptoms result from defective cilia motility. (medscape.com)
  • Mutations in this gene cause ciliary dyskinesia type 15, a disorder due to defects in cilia motility. (wikipedia.org)
  • Emplyoing exome sequencing, we were able to identify several novel human disease genes, such as PIH1D3, MNS1 and DNAH9, causing cilia motility defects and/or laterality defects when mutated as well as several novel genes associated with centra nervous system defects. (europa.eu)
  • As DNAH9 is only required for movement of parts of the cilium, cilia motility impairment is mild. (europa.eu)
  • Consequently, we hypothesize that Daw1 is not essential for cilia motility per se, but only for timely onset of beating over developmental timescales. (uoregon.edu)
  • Importantly, this Daw1 model of delayed cilia motility and body straightening provides an opportunity to study how early embryos can sense, or correct, shape deformations, which is an exciting and relatively unknown aspect of developmental morphogenesis. (uoregon.edu)
  • Recent evidence indicates that ciliary defects can lead to a broader set of developmental and adult phenotypes, with mutations in ciliary proteins now associated with nephronophthisis, Bardet-Biedl syndrome, Alstrom syndrome, and Meckel-Gruber syndrome. (nih.gov)
  • The molecular data linking seemingly unrelated clinical entities are beginning to highlight a common theme, where defects in ciliary structure and function can lead to a predictable phenotypic pattern that has potentially predictive and therapeutic value. (nih.gov)
  • Using cutting edge technologies such as CRISPR base editing approaches enables us to gain deeper insight into ciliary protein networks and dissect the molecular defects resulting from human patient mutations. (europa.eu)
  • Kartagener syndrome (KS) is a rare autosomal recessive genetic disorder characterized by defects in the ultrastructure of cilia impairing their motility. (5minuteconsult.com)
  • KS is characterized by defects in the ultrastructure of cilia impairing their motility. (5minuteconsult.com)
  • [ 2 ] first suggested ciliary dyskinesia as the cause of Kartagener syndrome in 1975. (medscape.com)
  • By augmenting ciliary motility, Acebrophylline increases the mucociliary clearance. (imexoverseas.in)
  • El síndrome está causado por mutaciones en los genes de DINEINA que codifican proteínas de movilidad que son componentes de las colas de los espermatozoides y de los CILIOS de los tractos respiratorio y reproductivo. (bvsalud.org)
  • The syndrome is caused by mutations of DYNEIN genes encoding motility proteins which are components of sperm tails, and CILIA in the respiratory and the reproductive tracts. (bvsalud.org)
  • This has led to the identification of a number of novel disease causing genes and provided novel insight into ciliary protein organisation and functions. (europa.eu)
  • 5 , 6 In concordance with the role of nodal cilia in L-R asymmetry, mutations in the motor proteins Kif3A and Kif3B, and the transcription factor Foxj1 in the mouse have demonstrated that ciliary motility is important for L-R asymmetry. (bmj.com)
  • They are also components of the male sperm flagellum and required for sperm motility. (preventiongenetics.com)
  • Kallmann syndrome occurs due to the mutation in the KAL1 leading to asthenozoospermia or reduced sperm motility. (novaivffertility.com)
  • Mice with a homozygous knockout of the orthologous gene are viable but have reduced sperm motility and are infertile. (nih.gov)
  • Ultimately, understanding these processes may help inform our treatments of congenital disorders. (uoregon.edu)
  • Inherited retinal diseases (IRDs) are a clinically and genetically heterogeneous group of disorders that often lead to photoreceptor degeneration. (nature.com)
  • It functions in correct left-right axis formation by regulating the assembly of the inner dynein arm and the dynein regulatory complexes, which control ciliary beat. (wikipedia.org)
  • Further, our results point stress that ciliary motility complexes such as dynein arms are organised in a compartementalised manner. (europa.eu)
  • 2021), Aquatic models of human ciliary diseases. (xenbase.org)
  • Diseases, dysfunctions, or disorders of or located in the iris. (lookformedical.com)
  • Cystic fibrosis (CF) is the most common genetic disorder in the Caucasian population. (springeropen.com)
  • This reduction is not as severe as that seen in cystic fibrosis, a similar disorder, and some individuals with PCD have lived into their seventh or eighth decade of life. (pcdfoundation.org)
  • For example, intraflagellar transport (IFT) trains constantly shuttle ciliary components between the base and tip of the eukaryotic cilium. (humantechnopole.it)
  • TREATCilia aimed to uncover underlying molecular pathophysiology in dynein based ciliopathies from gene to mechanism and we hope to identify future pharmacological entry points to ameliorate ciliary dynein-related phenotypes. (europa.eu)
  • In addition, we were able to establish a number of phenotype genotype correlation for motile ciliopathies/laterality disorders, inherited renal and skeletal phenotypes and neuro-developmental disorders By creating several of dynein-2- and IFT-mutant cell lines harboring human disease alleles using CRISPR base editing technologies, the project achieved generation of unique in-vitro ciliary condrodysplasia disease models. (europa.eu)
  • Cilia propel overlying mucus via a two-part ciliary beat cycle. (medscape.com)
  • Ciliary movement sweeps mucus, dirt, and bacteria out of the lungs, nasal passageways, and ear canals, thus protecting them from recurrent infections. (preventiongenetics.com)
  • Bromhexine is a mucolytic (expectorant) agent used in the treatment of respiratory disorders associated with viscid or excessive mucus. (imexoverseas.in)
  • SAS1, CJP3: writing, En la evaluación médica se identificó dolor en los senos paranasales, dextrocardia y bronquiectasias, confirmados por los revising and editing. (bvsalud.org)
  • manuscript design, data or estudios de imágenes, que permitió concluir en el diagnóstico de síndrome de Kartagener. (bvsalud.org)
  • With regards to non-motile ciliopathies, we focus on reno-skeletal disorders such as Jeune Syndrom and Short-Rib-Polydactyly Syndrome. (europa.eu)
  • Respiration Disorders" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings) . (ouhsc.edu)
  • I work in the field of Human Genetics/Genomics, particularly with next-generation sequencing data, for the identification of disease alleles (Schizophrenia, Bipolar Disorder, PTC, PCD) and the development of a predictive tool for eye colour from SNP data. (researchgate.net)
  • Amisulpride is an atypical antipsychotic used to treat psychosisin schizophrenia and episodes of mania in bipolar disorder. (imexoverseas.in)
  • Given the patient's history of trauma and findings of decreased ocular motility with proptosis, a magnetic resonance image was obtained. (bmj.com)
  • A laboratory validation study of a portable system for remote recording of sleep-related respiratory disorders. (ouhsc.edu)
  • Impaired motility results in an array of abnormalities including, situs. (5minuteconsult.com)
  • Use and follow the search options below to find specific genetic disorders within this category. (genet.ca)
  • We are using Next Generation Sequencing (NGS) technologies, mainly Exome Sequencing to unravel the underlying genetic cause of human ciliary disorders. (europa.eu)
  • The cilium is a large macromolecular machine that is vital for motility, signaling, and sensing in most eukaryotic cells. (humantechnopole.it)
  • This graph shows the total number of publications written about "Respiration Disorders" by people in this website by year, and whether "Respiration Disorders" was a major or minor topic of these publications. (ouhsc.edu)
  • Below are the most recent publications written about "Respiration Disorders" by people in Profiles. (ouhsc.edu)
  • [ 1 , 2 ] Ninety percent of patients with myasthenia gravis develop ophthalmologic manifestations of the disease, a disorder of neuromuscular transmission characterized by weakness and fatigability of skeletal muscles. (medscape.com)
  • The innervation to fibrillenstruktur fibrils is thick and heavily myelinated, with a single (en plaque) neuromuscular junction, whereas the innervation to felderstruktur fibrils is thin, with multiple grapelike clusters of neuromuscular junctions. (medscape.com)
  • Collectively, these findings underscore an important role for MyD88 in lung resident cells for regulating ciliary motility, wound repair and inflammatory responses to ODE, and moreover, show that airway hyperresponsiveness appears uncoupled from airway inflammatory consequences to organic dust challenge in terms of MyD88 involvement. (cdc.gov)
  • In vitro assays were developed to validate the variants identified (fibroblast assay, induced pluripotent stem cell [iPSC] derived retinal organoids, and a dynein motility assay). (nature.com)
  • However, carriers of some complex variants grouped in this category may be associated with a low risk of developing the disorder. (wisdompanel.com)
  • Accommodation- (eye focusing) the eye's ability to adjust its focus by the action of the ciliary muscle, which increases the lens focusing power. (retinalaser.com)
  • Sjögren Syndrome Sjögren syndrome is a relatively common chronic, autoimmune, systemic, inflammatory disorder of unknown cause. (msdmanuals.com)
  • Bronchiectasis is best considered the common end-point of various disorders that cause chronic airway inflammation. (msdmanuals.com)
  • The typical ciliary axoneme consists of two central microtubules surrounded by 9 microtubular doublets. (medscape.com)
  • In the present study, we first addressed whether ODE-induced changes in epithelial cell responses were MyD88-dependent by quantitating ciliary beat frequency and cell migration following wounding by electric cell-substrate impedance sensing. (cdc.gov)
  • ACh challenge evokes greater magnitude responses in basal turn OHCs, whereas GABA induces greater motility response decrease in apical turn OHCs. (northwestern.edu)
  • Elucidating the function of the mutated gene, ALMS1 , is critical for the development of specific treatments and may uncover pathways relevant to a range of other disorders including common forms of obesity and type 2 diabetes. (springer.com)