Rare autosomal recessive disease characterized by multiple organ dysfunction. The key clinical features include retinal degeneration (NYSTAGMUS, PATHOLOGIC; RETINITIS PIGMENTOSA; and eventual blindness), childhood obesity, sensorineural hearing loss, and normal mental development. Endocrinologic complications include TYPE 2 DIABETES MELLITUS; HYPERINSULINEMIA; ACANTHOSIS NIGRICANS; HYPOTHYROIDISM; and progressive renal and hepatic failures. The disease is caused by mutations in the ALMS1 gene.
A characteristic symptom complex.
A republic located south of HUNGARY, west of ROMANIA and BULGARIA, and part of the former YUGOSLAVIA. The capital is Belgrade.
An autosomal recessive disorder characterized by RETINITIS PIGMENTOSA; POLYDACTYLY; OBESITY; MENTAL RETARDATION; hypogenitalism; renal dysplasia; and short stature. This syndrome has been distinguished as a separate entity from LAURENCE-MOON SYNDROME. (From J Med Genet 1997 Feb;34(2):92-8)
'Abnormalities, Multiple' is a broad term referring to the presence of two or more structural or functional anomalies in an individual, which may be genetic or environmental in origin, and can affect various systems and organs of the body.
The inability to see or the loss or absence of perception of visual stimuli. This condition may be the result of EYE DISEASES; OPTIC NERVE DISEASES; OPTIC CHIASM diseases; or BRAIN DISEASES affecting the VISUAL PATHWAYS or OCCIPITAL LOBE.
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)
An individual in which both alleles at a given locus are identical.
Linear POLYPEPTIDES that are synthesized on RIBOSOMES and may be further modified, crosslinked, cleaved, or assembled into complex proteins with several subunits. The specific sequence of AMINO ACIDS determines the shape the polypeptide will take, during PROTEIN FOLDING, and the function of the protein.
A group of disorders involving predominantly the posterior portion of the ocular fundus, due to degeneration in the sensory layer of the RETINA; RETINAL PIGMENT EPITHELIUM; BRUCH MEMBRANE; CHOROID; or a combination of these tissues.
Cell surface receptors that bind specific neuropeptides with high affinity and trigger intracellular changes influencing the behavior of cells. Many neuropeptides are also hormones outside of the nervous system.
Works containing information articles on subjects in every field of knowledge, usually arranged in alphabetical order, or a similar work limited to a special field or subject. (From The ALA Glossary of Library and Information Science, 1983)
A diminution of the skeletal muscle tone marked by a diminished resistance to passive stretching.
A genetic or pathological condition that is characterized by short stature and undersize. Abnormal skeletal growth usually results in an adult who is significantly below the average height.
The study of the anatomical and functional relationships between the nervous system and the endocrine system.
Acquisition of knowledge as a result of instruction in a formal course of study.
Conferences, conventions or formal meetings usually attended by delegates representing a special field of interest.
Component of the NATIONAL INSTITUTES OF HEALTH. It conducts and supports basic and applied research to better understand, treat, and ultimately prevent infectious, immunologic, and allergic diseases. It was established in 1948.
Deposits of ADIPOSE TISSUE throughout the body. The pattern of fat deposits in the body regions is an indicator of health status. Excess ABDOMINAL FAT increases health risks more than excess fat around the hips or thighs, therefore, WAIST-HIP RATIO is often used to determine health risks.
The glyceryl esters of a fatty acid, or of a mixture of fatty acids. They are generally odorless, colorless, and tasteless if pure, but they may be flavored according to origin. Fats are insoluble in water, soluble in most organic solvents. They occur in animal and vegetable tissue and are generally obtained by boiling or by extraction under pressure. They are important in the diet (DIETARY FATS) as a source of energy. (Grant & Hackh's Chemical Dictionary, 5th ed)
Diseases in any part of the GASTROINTESTINAL TRACT or the accessory organs (LIVER; BILIARY TRACT; PANCREAS).

Loss of caspase-8 expression does not correlate with MYCN amplification, aggressive disease, or prognosis in neuroblastoma. (1/40)

Inactivation of caspase-8 because of aberrant gene methylation has been associated with amplification of the MYCN oncogene and aggressive disease in neuroblastoma, suggesting that caspase-8 may function as tumor suppressor. However, the prognostic effect of caspase-8 in neuroblastoma has remained obscure. Therefore, we investigated caspase-8 expression and its correlation with established prognostic markers and survival outcome in a large cohort of neuroblastoma patients. Here, we report that loss of caspase-8 protein expression occurs in the majority (75%) of neuroblastoma and is not restricted to advanced disease stages. Surprisingly, no correlation was observed between caspase-8 expression and MYCN amplification. Similarly, ectopic expression of MYCN or antisense-mediated down-regulation of MYCN had no effect on caspase-8 expression in neuroblastoma cell lines. In addition, caspase-8 expression did not correlate with other variables of high-risk disease (e.g., 1p36 aberrations, disease stage, age at diagnosis, or tumor histology). Most importantly, loss of caspase-8 protein had no effect on event-free or overall survival in the overall study population or in distinct subgroups of patients. By revealing no correlation between caspase-8 expression and MYCN amplification or other established variables of aggressive disease, our findings in a large cohort of neuroblastoma patients show that inactivation of caspase-8 is not a characteristic feature of aggressive neuroblastoma. Thus, our study provides novel insight into the biology of this tumor, which may have important clinical implications.  (+info)

Caspase-8 and c-FLIPL associate in lipid rafts with NF-kappaB adaptors during T cell activation. (2/40)

Humans and mice lacking functional caspase-8 in T cells manifest a profound immunodeficiency syndrome due to defective T cell antigen receptor (TCR)-induced NF-kappaB signaling and proliferation. It is unknown how caspase-8 is activated following T cell stimulation, and what is the caspase-8 substrate(s) that is necessary to initiate T cell cycling. We observe that following TCR ligation, a small portion of total cellular caspase-8 and c-FLIP(L) rapidly migrate to lipid rafts where they associate in an active caspase complex. Activation of caspase-8 in lipid rafts is followed by rapid cleavage of c-FLIP(L) at a known caspase-8 cleavage site. The active caspase.c-FLIP complex forms in the absence of Fas (CD95/APO1) and associates with the NF-kappaB signaling molecules RIP1, TRAF2, and TRAF6, as well as upstream NF-kappaB regulators PKC theta, CARMA1, Bcl-10, and MALT1, which connect to the TCR. The lack of caspase-8 results in the absence of MALT1 and Bcl-10 in the active caspase complex. Consistent with this observation, inhibition of caspase activity attenuates NF-kappaB activation. The current findings define a link among TCR, caspases, and the NF-kappaB pathway that occurs in a sequestered lipid raft environment in T cells.  (+info)

Lidocaine induces apoptosis via the mitochondrial pathway independently of death receptor signaling. (3/40)

BACKGROUND: Local anesthetics, especially lidocaine, can lead to persistent cauda equina syndrome after spinal anesthesia. Recently, lidocaine has been reported to trigger apoptosis, although the underlying mechanisms remain unknown. To elucidate the pathway of lidocaine-induced apoptosis, the authors used genetically modified cells with overexpression or deficiencies of key regulators of apoptosis. METHODS: Human Jurkat T-lymphoma cells overexpressing the antiapoptotic protein B-cell lymphoma 2 as well as cells deficient of caspase 9, caspase 8, or Fas-associated protein with death domain were exposed to lidocaine and compared with parental cells. The authors evaluated cell viability, mitochondrial alterations, cytochrome c release, caspase activation, and early apoptosis. Apoptosis was in addition investigated in neuroblastoma cells. RESULTS: In Jurkat cells, lidocaine reduced viability, associated with a loss of the mitochondrial membrane potential. At low concentrations (3-6 mm) of lidocaine, caspase 3 was activated and release of cytochrome c was detected, whereas at higher concentrations (10 mm), no caspase activation was found. Apoptosis by lidocaine was strongly reduced by B-cell lymphoma-2 protein overexpression or caspase-9 deficiency, whereas cells lacking the death receptor pathway components caspase 8 and Fas-associated protein with death domain were not protected and displayed similar apoptotic alterations as the parental cells. Lidocaine also induced apoptotic caspase activation in neuroblastoma cells. CONCLUSIONS: Apoptosis is triggered by concentrations of lidocaine occurring intrathecally after spinal anesthesia, whereas higher concentrations induce necrosis. The data indicate that death receptors are not involved in lidocaine-induced apoptosis. In contrast, the observation that B-cell lymphoma-2 protein overexpression or the lack of caspase 9 abolished apoptosis clearly implicates the intrinsic mitochondrial death pathway in lidocaine-induced apoptosis.  (+info)

A Fas-associated death domain protein/caspase-8-signaling axis promotes S-phase entry and maintains S6 kinase activity in T cells responding to IL-2. (4/40)

Fas-associated death domain protein (FADD) constitutes an essential component of TNFR-induced apoptotic signaling. Paradoxically, FADD has also been shown to be crucial for lymphocyte development and activation. In this study, we report that FADD is necessary for long-term maintenance of S6 kinase (S6K) activity. S6 phosphorylation at serines 240 and 244 was only observed after long-term stimulation of wild-type cells, roughly corresponding to the time before S-phase entry, and was poorly induced in T cells expressing a dominantly interfering form of FADD (FADDdd), viral FLIP, or possessing a deficiency in caspase-8. Defects in S6K1 phosphorylation were also observed. However, defective S6K1 phosphorylation was not a consequence of a wholesale defect in mammalian target of rapamycin function, because 4E-BP1 phosphorylation following T cell activation was unaffected by FADDdd expression. Although cyclin D3 up-regulation and retinoblastoma hypophosphorylation occurred normally in FADDdd T cells, cyclin E expression and cyclin-dependent kinase 2 activation were markedly impaired in FADDdd T cells. These results demonstrate that a FADD/caspase-8-signaling axis promotes T cell cycle progression and sustained S6K activity.  (+info)

Novel noncatalytic role for caspase-8 in promoting SRC-mediated adhesion and Erk signaling in neuroblastoma cells. (5/40)

Neuroblastomas are extremely aggressive, although heterogeneous, cancers with a poor prognosis upon metastasis. Some evidence has suggested a correlative silencing of caspase-8 with MYCN amplification in neuroblastoma. A prognostic effect of this silencing, however, has been disputed. We report here hitherto undescribed roles for caspase-8 in the modulation of cell adhesion and subsequent activation of the Erk signaling pathway. Re-expression of caspase-8 in neuroblastoma cells lacking endogenous caspase-8 expression was found to promote cell adhesion to extracellular matrix and to activate adhesion-dependent signaling pathways, such as the Erk kinase cascade. This function of caspase-8 occurred irrespective of its proteolytic activity. Additionally, a pool of caspase-8 was shown to co-localize with the Src tyrosine kinase at the cellular periphery. Furthermore, our studies showed that caspase-8 forms a physical protein complex with Src via its death effector domains (DED) and maintains the complex in a detergent-soluble fraction. We also show that the DEDs of caspase-8 alone are necessary and sufficient to recreate the adhesive and biochemical phenotypes observed with the full-length protein, suggesting that caspase-8 may exert these effects via its association with Src. This protein complex association of caspase-8 and Src, and concomitant downstream signaling events, may help reconcile why a potential tumor suppressor such as caspase-8 is rarely absent in cancers.  (+info)

Genetic defects of apoptosis and primary immunodeficiency. (6/40)

 (+info)

Infected cell killing by HIV-1 protease promotes NF-kappaB dependent HIV-1 replication. (7/40)

 (+info)

Mutation of a self-processing site in caspase-8 compromises its apoptotic but not its nonapoptotic functions in bacterial artificial chromosome-transgenic mice. (8/40)

Caspase-8, the proximal enzyme in the death-induction pathway of the TNF/nerve growth factor receptor family, is activated upon juxtaposition of its molecules within the receptor complexes and is then self-processed. Caspase-8 also contributes to the regulation of cell survival and growth, but little is known about the similarities or the differences between the mechanisms of these nonapoptotic functions and of the enzyme's apoptotic activity. In this study, we report that in bacterial artificial chromosome-transgenic mice, in which the aspartate residue upstream of the initial self-processing site in caspase-8 (D387) was replaced by alanine, induction of cell death by Fas is compromised. However, in contrast to caspase-8-deficient mice, which die in utero at mid-gestation, the mice mutated at D387 were born alive and seemed to develop normally. Moreover, mice with the D387A mutation showed normal in vitro growth responses of T lymphocytes to stimulation of their Ag receptor as well as of B lymphocytes to stimulation by LPS, normal differentiation of bone marrow macrophage precursors in response to M-CSF, and normal generation of myeloid colonies by the bone marrow hematopoietic progenitors, all of which are compromised in cells deficient in caspase-8. These finding indicated that self-processing of activated caspase-8 is differentially involved in the different functions of this enzyme: it is needed for the induction of cell death through the extrinsic cell death pathway but not for nonapoptotic functions of caspase-8.  (+info)

Alström Syndrome is a rare inherited genetic disorder characterized by the combination of several features, including:

1. Progressive visual impairment due to retinal degeneration (retinitis pigmentosa), which typically begins in childhood and can lead to blindness.
2. Hearing loss, which can also begin in childhood and progress over time.
3. Obesity, which often develops in early childhood and can lead to type 2 diabetes, high blood pressure, and other cardiovascular complications.
4. Dilated cardiomyopathy, a condition in which the heart muscle becomes weakened and enlarged, leading to heart failure.
5. Kidney disease, which can range from mild to severe and may require dialysis or transplantation.
6. Neurological symptoms, such as developmental delays, cognitive impairment, and movement disorders.
7. Hormonal imbalances, including problems with growth hormone, thyroid function, and sexual development.

Alström Syndrome is caused by mutations in the ALMS1 gene, which provides instructions for making a protein that is believed to play a role in maintaining the structure and function of various organelles within cells. The disorder is inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the mutated gene (one from each parent) in order to develop the condition.

There is no cure for Alström Syndrome, but early diagnosis and management of its various symptoms can help improve quality of life and prolong survival. Treatment typically involves a multidisciplinary approach, with input from specialists such as ophthalmologists, audiologists, cardiologists, nephrologists, endocrinologists, and neurologists.

A syndrome, in medical terms, is a set of symptoms that collectively indicate or characterize a disease, disorder, or underlying pathological process. It's essentially a collection of signs and/or symptoms that frequently occur together and can suggest a particular cause or condition, even though the exact physiological mechanisms might not be fully understood.

For example, Down syndrome is characterized by specific physical features, cognitive delays, and other developmental issues resulting from an extra copy of chromosome 21. Similarly, metabolic syndromes like diabetes mellitus type 2 involve a group of risk factors such as obesity, high blood pressure, high blood sugar, and abnormal cholesterol or triglyceride levels that collectively increase the risk of heart disease, stroke, and diabetes.

It's important to note that a syndrome is not a specific diagnosis; rather, it's a pattern of symptoms that can help guide further diagnostic evaluation and management.

I'm sorry for any confusion, but "Serbia" is not a medical term. It is a country in Europe, located in the Balkan region. If you have any questions about medical terms or health-related topics, I would be happy to try and help answer them!

Bardet-Biedl Syndrome (BBD) is a rare genetic disorder that affects multiple organs and systems in the body. It is characterized by a combination of symptoms including:

1. Obesity: Excessive weight gain, especially around the trunk and face, is a common feature of BBS.
2. Polydactyly: Extra fingers or toes are present at birth in about 70% of individuals with BBS.
3. Retinal degeneration: Progressive loss of vision due to retinal dystrophy is a hallmark of the syndrome.
4. Renal abnormalities: Structural and functional kidney problems, such as cysts, nephronophthisis, and chronic kidney disease, are common in BBS patients.
5. Learning difficulties: Intellectual disability or developmental delay is often present in individuals with BBS.
6. Hypogonadism: Abnormalities of the reproductive system, such as small genitals, delayed puberty, and infertility, are common in both males and females with BBS.
7. Other features: Additional symptoms may include speech and language delay, behavioral problems, diabetes mellitus, heart defects, and hearing loss.

Bardet-Biedl Syndrome is inherited as an autosomal recessive trait, meaning that an individual must inherit two copies of the mutated gene (one from each parent) to develop the syndrome. The disorder affects both males and females equally and has a prevalence of about 1 in 100,000-160,000 individuals worldwide.

'Abnormalities, Multiple' is a broad term that refers to the presence of two or more structural or functional anomalies in an individual. These abnormalities can be present at birth (congenital) or can develop later in life (acquired). They can affect various organs and systems of the body and can vary greatly in severity and impact on a person's health and well-being.

Multiple abnormalities can occur due to genetic factors, environmental influences, or a combination of both. Chromosomal abnormalities, gene mutations, exposure to teratogens (substances that cause birth defects), and maternal infections during pregnancy are some of the common causes of multiple congenital abnormalities.

Examples of multiple congenital abnormalities include Down syndrome, Turner syndrome, and VATER/VACTERL association. Acquired multiple abnormalities can result from conditions such as trauma, infection, degenerative diseases, or cancer.

The medical evaluation and management of individuals with multiple abnormalities depend on the specific abnormalities present and their impact on the individual's health and functioning. A multidisciplinary team of healthcare professionals is often involved in the care of these individuals to address their complex needs.

Blindness is a condition of complete or near-complete vision loss. It can be caused by various factors such as eye diseases, injuries, or birth defects. Total blindness means that a person cannot see anything at all, while near-complete blindness refers to having only light perception or the ability to perceive the direction of light, but not able to discern shapes or forms. Legal blindness is a term used to define a certain level of visual impairment that qualifies an individual for government assistance and benefits; it usually means best corrected visual acuity of 20/200 or worse in the better eye, or a visual field no greater than 20 degrees in diameter.

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.

A homozygote is an individual who has inherited the same allele (version of a gene) from both parents and therefore possesses two identical copies of that allele at a specific genetic locus. This can result in either having two dominant alleles (homozygous dominant) or two recessive alleles (homozygous recessive). In contrast, a heterozygote has inherited different alleles from each parent for a particular gene.

The term "homozygote" is used in genetics to describe the genetic makeup of an individual at a specific locus on their chromosomes. Homozygosity can play a significant role in determining an individual's phenotype (observable traits), as having two identical alleles can strengthen the expression of certain characteristics compared to having just one dominant and one recessive allele.

Proteins are complex, large molecules that play critical roles in the body's functions. They are made up of amino acids, which are organic compounds that are the building blocks of proteins. Proteins are required for the structure, function, and regulation of the body's tissues and organs. They are essential for the growth, repair, and maintenance of body tissues, and they play a crucial role in many biological processes, including metabolism, immune response, and cellular signaling. Proteins can be classified into different types based on their structure and function, such as enzymes, hormones, antibodies, and structural proteins. They are found in various foods, especially animal-derived products like meat, dairy, and eggs, as well as plant-based sources like beans, nuts, and grains.

Retinal dystrophies are a group of genetic eye disorders that primarily affect the retina, a light-sensitive layer at the back of the eye. These conditions are characterized by progressive degeneration and death of photoreceptor cells (rods and cones) in the retina, leading to vision loss.

The term "dystrophy" refers to a condition that results from the abnormal or defective development and function of tissues or organs. In the case of retinal dystrophies, the photoreceptor cells do not develop or function properly, resulting in visual impairment.

Retinal dystrophies can present at any age, from infancy to adulthood, and can have varying degrees of severity. Some common symptoms include night blindness, decreased visual acuity, loss of peripheral vision, light sensitivity, and color vision abnormalities.

Examples of retinal dystrophies include retinitis pigmentosa, Stargardt disease, Usher syndrome, and Leber congenital amaurosis, among others. These conditions are typically inherited and can be caused by mutations in various genes that play a role in the development and function of the retina.

There is currently no cure for retinal dystrophies, but research is ongoing to develop treatments that may slow or halt the progression of these conditions, such as gene therapy and stem cell transplantation.

Neuropeptide receptors are a type of cell surface receptor that bind to neuropeptides, which are small signaling molecules made up of short chains of amino acids. These receptors play an important role in the nervous system by mediating the effects of neuropeptides on various physiological processes, including neurotransmission, pain perception, and hormone release.

Neuropeptide receptors are typically composed of seven transmembrane domains and are classified into several families based on their structure and function. Some examples of neuropeptide receptor families include the opioid receptors, somatostatin receptors, and vasoactive intestinal peptide (VIP) receptors.

When a neuropeptide binds to its specific receptor, it activates a signaling pathway within the cell that leads to various cellular responses. These responses can include changes in gene expression, ion channel activity, and enzyme function. Overall, the activation of neuropeptide receptors helps to regulate many important functions in the body, including mood, appetite, and pain sensation.

An encyclopedia is a comprehensive reference work containing articles on various topics, usually arranged in alphabetical order. In the context of medicine, a medical encyclopedia is a collection of articles that provide information about a wide range of medical topics, including diseases and conditions, treatments, tests, procedures, and anatomy and physiology. Medical encyclopedias may be published in print or electronic formats and are often used as a starting point for researching medical topics. They can provide reliable and accurate information on medical subjects, making them useful resources for healthcare professionals, students, and patients alike. Some well-known examples of medical encyclopedias include the Merck Manual and the Stedman's Medical Dictionary.

Muscle hypotonia, also known as decreased muscle tone, refers to a condition where the muscles appear to be flaccid or lacking in tension and stiffness. This results in reduced resistance to passive movements, making the limbs feel "floppy" or "like a rag doll." It can affect any muscle group in the body and can be caused by various medical conditions, including neurological disorders, genetic diseases, and injuries to the nervous system. Hypotonia should not be confused with muscle weakness, which refers to the inability to generate normal muscle strength.

Dwarfism is a medical condition that is characterized by short stature, typically with an adult height of 4 feet 10 inches (147 centimeters) or less. It is caused by a variety of genetic and medical conditions that affect bone growth, including skeletal dysplasias, hormonal deficiencies, and chromosomal abnormalities.

Skeletal dysplasias are the most common cause of dwarfism and are characterized by abnormalities in the development and growth of bones and cartilage. Achondroplasia is the most common form of skeletal dysplasia, accounting for about 70% of all cases of dwarfism. It is caused by a mutation in the fibroblast growth factor receptor 3 (FGFR3) gene and results in short limbs, a large head, and a prominent forehead.

Hormonal deficiencies, such as growth hormone deficiency or hypothyroidism, can also cause dwarfism if they are not diagnosed and treated early. Chromosomal abnormalities, such as Turner syndrome (monosomy X) or Down syndrome (trisomy 21), can also result in short stature and other features of dwarfism.

It is important to note that people with dwarfism are not "dwarves" - the term "dwarf" is a medical and sociological term used to describe individuals with this condition, while "dwarves" is a term often used in fantasy literature and media to refer to mythical beings. The use of the term "dwarf" can be considered disrespectful or offensive to some people with dwarfism, so it is important to use respectful language when referring to individuals with this condition.

Neuroendocrinology is a branch of biomedical science that explores the interplay between the nervous system and the endocrine system. It focuses on how the nervous system regulates the endocrine system through the synthesis, release, and transport of hormones, as well as how these hormones in turn influence the functioning of the nervous system.

The hypothalamus, a region in the brain, plays a crucial role in neuroendocrinology as it receives information from various parts of the body and integrates this information to regulate hormone release. The hypothalamus produces releasing and inhibiting hormones that control the secretion of pituitary hormones, which then act on other endocrine glands to regulate their functions.

Neuroendocrinology has important implications for understanding various physiological processes such as growth, development, reproduction, stress response, metabolism, and behavior. It also provides insights into the pathophysiology of several diseases, including diabetes, obesity, hormonal disorders, and neuropsychiatric conditions.

I am not a medical professional, but I can provide you with some general information about the concept of "education" in the context of health and medicine.

In this context, education generally refers to the process of acquiring knowledge, skills, values, and attitudes related to maintaining and improving one's health and well-being, as well as preventing and managing diseases and injuries. Health education can take place in various settings, such as schools, healthcare facilities, workplaces, and communities.

Health education aims to empower individuals and populations to make informed decisions about their health and promote healthy behaviors and lifestyle choices. It covers a wide range of topics, including:

1. Anatomy and physiology
2. Nutrition and diet
3. Exercise and physical activity
4. Mental health and well-being
5. Substance use and abuse
6. Sexual and reproductive health
7. Personal hygiene and infection control
8. Chronic disease management
9. Injury prevention and safety
10. Environmental health

Health education is often delivered by healthcare professionals, educators, and community leaders, using various methods such as lectures, workshops, demonstrations, simulations, and digital media. The ultimate goal of health education is to improve overall health outcomes and reduce health disparities in populations.

The term "Congresses as Topic" refers to large, formal meetings that are held to discuss and exchange information on a specific topic or field, usually academic or professional in nature. In the context of medical science, a congress is an event where healthcare professionals, researchers, and experts gather to present and discuss the latest research, developments, and innovations in their field. Medical congresses can cover a wide range of topics, including specific diseases, treatments, medical specialties, public health issues, or healthcare policies. These events often include keynote speeches, panel discussions, workshops, poster sessions, and networking opportunities for attendees. Examples of well-known medical congresses are the annual meetings of the American Medical Association, the American Heart Association, and the European Society of Cardiology.

Body fat distribution refers to the way in which adipose tissue (fat) is distributed throughout the body. There are two main types of body fat distribution: android or central/abdominal distribution and gynoid or peripheral distribution.

Android or central/abdominal distribution is characterized by a higher proportion of fat deposited in the abdominal area, surrounding internal organs (visceral fat) and between muscle fibers (intramuscular fat). This pattern is more common in men and is associated with an increased risk of metabolic diseases such as type 2 diabetes, hypertension, dyslipidemia, and cardiovascular disease.

Gynoid or peripheral distribution is characterized by a higher proportion of fat deposited in the hips, thighs, and buttocks. This pattern is more common in women and is generally considered less harmful to health than android distribution. However, excessive accumulation of body fat, regardless of its distribution, can lead to obesity-related health problems.

It's important to note that body fat distribution can be influenced by various factors, including genetics, hormones, lifestyle, and environmental factors. Assessing body fat distribution is an essential aspect of evaluating overall health and disease risk.

Fats, also known as lipids, are a broad group of organic compounds that are insoluble in water but soluble in nonpolar organic solvents. In the body, fats serve as a major fuel source, providing twice the amount of energy per gram compared to carbohydrates and proteins. They also play crucial roles in maintaining cell membrane structure and function, serving as precursors for various signaling molecules, and assisting in the absorption and transport of fat-soluble vitamins.

There are several types of fats:

1. Saturated fats: These fats contain no double bonds between their carbon atoms and are typically solid at room temperature. They are mainly found in animal products, such as meat, dairy, and eggs, as well as in some plant-based sources like coconut oil and palm kernel oil. Consuming high amounts of saturated fats can raise levels of harmful low-density lipoprotein (LDL) cholesterol in the blood, increasing the risk of heart disease.
2. Unsaturated fats: These fats contain one or more double bonds between their carbon atoms and are usually liquid at room temperature. They can be further divided into monounsaturated fats (one double bond) and polyunsaturated fats (two or more double bonds). Unsaturated fats, especially those from plant sources, tend to have beneficial effects on heart health by lowering LDL cholesterol levels and increasing high-density lipoprotein (HDL) cholesterol levels.
3. Trans fats: These are unsaturated fats that have undergone a process called hydrogenation, which adds hydrogen atoms to the double bonds, making them more saturated and solid at room temperature. Partially hydrogenated trans fats are commonly found in processed foods, such as baked goods, fried foods, and snack foods. Consumption of trans fats has been linked to increased risks of heart disease, stroke, and type 2 diabetes.
4. Omega-3 fatty acids: These are a specific type of polyunsaturated fat that is essential for human health. They cannot be synthesized by the body and must be obtained through diet. Omega-3 fatty acids have been shown to have numerous health benefits, including reducing inflammation, improving heart health, and supporting brain function.
5. Omega-6 fatty acids: These are another type of polyunsaturated fat that is essential for human health. They can be synthesized by the body but must also be obtained through diet. While omega-6 fatty acids are necessary for various bodily functions, excessive consumption can contribute to inflammation and other health issues. It is recommended to maintain a balanced ratio of omega-3 to omega-6 fatty acids in the diet.

The digestive system, also known as the gastrointestinal (GI) tract, is a series of organs that process food and liquids into nutrients and waste. Digestive system diseases refer to any conditions that affect the normal functioning of this system, leading to impaired digestion, absorption, or elimination of food and fluids.

Some common examples of digestive system diseases include:

1. Gastroesophageal Reflux Disease (GERD): A condition where stomach acid flows back into the esophagus, causing symptoms such as heartburn, chest pain, and difficulty swallowing.
2. Peptic Ulcer Disease: Sores or ulcers 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 that affect the intestines, including Crohn's disease and ulcerative colitis.
4. Irritable Bowel Syndrome (IBS): A functional gastrointestinal disorder characterized by abdominal pain, bloating, and changes in bowel habits.
5. Celiac Disease: An autoimmune disorder where the ingestion of gluten leads to damage in the small intestine, impairing nutrient absorption.
6. Diverticular Disease: A condition that affects the colon, characterized by the formation of small pouches or sacs (diverticula) that can become inflamed or infected.
7. Constipation: A common digestive system issue where bowel movements occur less frequently than usual or are difficult to pass.
8. Diarrhea: Loose, watery stools that occur more frequently than normal, often accompanied by cramps and bloating.
9. Gallstones: Small, hard deposits that form in the gallbladder, causing pain, inflammation, and potential blockages of the bile ducts.
10. Hepatitis: Inflammation of the liver, often caused by viral infections or toxins, leading to symptoms such as jaundice, fatigue, and abdominal pain.

These are just a few examples of digestive system disorders that can affect overall health and quality of life. If you experience any persistent or severe digestive symptoms, it is important to seek medical attention from a healthcare professional.

"Alstrom syndrome". Nature's Corner. Retrieved 2015-12-06.[permanent dead link] "Alstrom syndrome - Clark's Nutrition". www. ... Syndromes with obesity, Syndromes with sensorineural hearing loss, Syndromes affecting the retina, Syndromes including diabetes ... "OMIM Entry - # 203800 - ALSTROM SYNDROME; ALMS". www.omim.org. Retrieved 2019-07-16. Alstrom, C. H.; Hallgren, B.; Nilsson, L. ... Thus, Alstrom syndrome is a ciliopathy. Other known ciliopathies include primary ciliary dyskinesia, Bardet-Biedl syndrome, ...
Mutations in this gene cause Alstrom syndrome. There is a pseudogene for this gene located adjacent in the same region of ... Tai TS, Lin SY, Sheu WH (2003). "Metabolic effects of growth hormone therapy in an Alström syndrome patient". Horm. Res. 60 (6 ... causes Alström syndrome". Nat. Genet. 31 (1): 79-83. doi:10.1038/ng874. PMID 11941370. S2CID 1840855. 't Hart LM, Maassen JA, ... type 2 diabetes and neurosensory degeneration in Alström syndrome". Nat. Genet. 31 (1): 74-8. doi:10.1038/ng867. PMID 11941369 ...
GeneReviews/NCBI/NIH/UW entry on Alstrom syndrome OMIM entries on Alström syndrome ALMS1+protein,+human at the U.S. National ... Alstrom syndrome 1 also known as ALMS1 is a protein which in humans is encoded by the ALMS1 gene. The gene is located on the ... Joy T, Cao H, Black G, Malik R, Charlton-Menys V, Hegele RA, Durrington PN (2007). "Alstrom syndrome (OMIM 203800): a case ... Li G, Vega R, Nelms K, Gekakis N, Goodnow C, McNamara P, Wu H, Hong NA, Glynne R (January 2007). "A role for Alström syndrome ...
Genes from its loci have been related to Alstrom syndrome, cleft palate, neurodevelopmental delays, macrocephaly, and Perry ... syndrome. In human c2orf81, phosphorylation is expected to be undergone only in serines, but not in any threonines or tyrosines ...
Alstrom syndrome 1 ABCG5 and ABCG8: ATP-binding cassette, subfamily A, members 5 and 8 ASXL2: Additional sex combs like 2, ... 2p15-16.1 microdeletion syndrome Autism Alport syndrome Alström syndrome Amyotrophic lateral sclerosis Brachydactyly type D ... Sensenbrenner syndrome Synesthesia Waardenburg syndrome G-banding ideograms of human chromosome 2 "Search results - 2[CHR] AND ... classical type Ehlers-Danlos syndrome, vascular type Fibrodysplasia ossificans progressiva Gilbert's syndrome Harlequin type ...
... dominant type Alport syndrome macrothrombocytopenia Alport syndrome, recessive type Alstrom's syndrome Alternating hemiplegia ... Pande syndrome Aarskog syndrome Aase-Smith syndrome Aase syndrome Abasia ABCD syndrome Abdallat-Davis-Farrage syndrome ... syndrome Akesson syndrome Aksu-Stckhausen syndrome Al Awadi Teebi Farag syndrome Al Frayh Facharzt Haque syndrome Al Gazali Al ... Alien hand syndrome Alkaptonuria Allain-Babin-Demarquez syndrome Allan-Herndon-Dudley syndrome Allanson-Pantzar-McLeod syndrome ...
Alström syndrome is a very rare disease. It is passed down through families (inherited). This disease can lead to blindness, ... Alström syndrome is a very rare disease. It is passed down through families (inherited). This disease can lead to blindness, ... Alström syndrome is inherited in an autosomal recessive manner. This means both of your parents must pass on a copy of the ... Alström syndrome is a very rare disease. It is passed down through families (inherited). This disease can lead to blindness, ...
We use cookies to collect information about how you use the Charity Commission Register of Charities and Digital Services, such as pages you visit.. We use this information to better understand how you use our website so that we can improve your user experience and present more relevant content.. ...
Why do cilia go wrong in Alström Syndrome?. Alström Syndrome is a genetic disease. Like other genetic diseases, it is caused ... In Alström Syndrome there is a problem with a gene called ALMS1. In only 2002, research carried out simultaneously in two ... What is the future of research into Alström Syndrome?. There are a number of questions that need to be tackled by future ... In people with Alström Syndrome the protein is not made correctly and so cannot do its job, making the cilia work incorrectly. ...
Inaugural Alstrom Syndrome Pediatric Multidisciplinary Clinic at Indiana University in Indianapolis July 14, 2022 ... Alström Syndrome UK turns 25, AS Global is pleased to announce the worlds first annual lecture April 20, 2023 ... Alström Syndrome International (ASI) Externally Led-Patient Focused Drug Development (EL-PFDD) August 24, 2022 ...
Also, the onset of visual problems differs from BBS (average age of onset is 8.5 years) (Alstrom et al. 1959; Marshall et al. ... Estimated prevalence is less than 1:100,000 (Alstrom et al. 1959; Collin et al. 2002; Marshall et al. 2007). Although AS bears ... Alström syndrome (AS) is a pleiotropic disorder characterized by retinal degeneration (occurs within the first year of life), ... many similarities to Bardet-Biedl syndrome (BBS), there is no cognitive impairment, polydactyly, or hypogonadism in AS. ...
"Alstrom Syndrome" by people in this website by year, and whether "Alstrom Syndrome" was a major or minor topic of these ... "Alstrom Syndrome" is a descriptor in the National Library of Medicines controlled vocabulary thesaurus, MeSH (Medical Subject ... Below are the most recent publications written about "Alstrom Syndrome" by people in Profiles. ... Below are MeSH descriptors whose meaning is more general than "Alstrom Syndrome". ...
Alström Syndrome UK (ASUK) provides support and advice for individuals and families affected by one of the rarest and most ... Alstrom Syndrome UK. Alström Syndrome UK (ASUK) provides support and advice for individuals and families affected by one of the ... "Wow what a crazy day, we are so lucky to have such amazing support from Alström Syndrome UK. The ASUK team and the lovely ... Yesterday we got the chance to meet other families with Alström Syndrome and immediately felt the support and comfort from ...
"Alstrom syndrome". Natures Corner. Retrieved 2015-12-06.[permanent dead link] "Alstrom syndrome - Clarks Nutrition". www. ... Syndromes with obesity, Syndromes with sensorineural hearing loss, Syndromes affecting the retina, Syndromes including diabetes ... "OMIM Entry - # 203800 - ALSTROM SYNDROME; ALMS". www.omim.org. Retrieved 2019-07-16. Alstrom, C. H.; Hallgren, B.; Nilsson, L. ... Thus, Alstrom syndrome is a ciliopathy. Other known ciliopathies include primary ciliary dyskinesia, Bardet-Biedl syndrome, ...
The phenotypic and molecular genetic spectrum of Alstrom syndrome in 44 Turkish kindreds and a literature review of Alstrom ... Alms1-disrupted mice recapitulate human Alstrom syndrome. Hum. Mol. Genet. 14, 2323-2333 (2005). ... The IGSF1 deficiency syndrome: characteristics of male and female patients. J. Clin. Endocrinol. Metab. 98, 4942-4952 (2013). ... Evidence for a Turner syndrome locus or loci at Xp11.2-p22.1. Am. J. Hum. Genet. 63, 1757-1766 (1998). ...
Obesity and Associated Traits in Alstrom Syndrome. Jurgen Naggert, The Jackson Laboratory. 8:45 a.m. - 9:15 a.m.. Obesity and X ... Session III: Pleiotropic "Obesity Syndromes". Moderator: Philip Beales. This session will examine rare genetic syndromes for ... We also hope to get an idea of the number of individuals/families with obesity and lipodystrophic syndromes where the genetic ... Brain-derived Neurotrophic Factor in WAGR Syndrome and Non-syndromic Obesity. Joan Han, National Institute of Child Health and ...
Histopathology of the human inner ear in Alstroms syndrome. Audiol Neurootol. 2015. 20 (4):267-72. [QxMD MEDLINE Link]. ... The Outcomes of Cochlear Implantation in Usher Syndrome: A Systematic Review. J Clin Med. 2021 Jun 29. 10 (13):[QxMD MEDLINE ... Bayrak F, Catli T, Atsal G, Tokat T, Olgun L. Waardenburg Syndrome: An Unusual Indication of Cochlear Implantation Experienced ... The Hearing Outcomes of Cochlear Implantation in Waardenburg Syndrome. Biomed Res Int. 2016. 2016:2854736. [QxMD MEDLINE Link] ...
Histopathology of the human inner ear in Alstroms syndrome. Audiol Neurootol. 2015. 20 (4):267-72. [QxMD MEDLINE Link]. ... branchiootorenal syndrome, Poland syndrome, and Down syndrome), but many others had significant dysmorphisms that were thought ... Children with Usher syndrome develop hearing loss, vestibular impairment, and visual impairment. Usher syndrome accounts for a ... Some syndromes, such as Pendred, Alport, Refsum, neurofibromatosis type II, Usher, and osteopetrosis, may place the patient at ...
Synonyms: Alstrom syndrome 1. Type: Gene. Species: Mus musculus (mouse). Chromosome: 6 ...
Alstrom Syndrome International. American Academy of Family Physicians. American Academy of Neurology. American Academy of ... Hermansky-Pudlak Syndrome Network. Infectious Diseases Society of America. Lakeshore Foundation. Lupus and Allied Diseases ... Phelan-McDermid Syndrome Foundation. Prevent Blindness. Prostate Cancer International. Public Affairs Council. Spina Bifida ...
Characteristic findings of alstrom syndrome with a case report (Articles) Fatma Silan, Savas Gur, Laliz Esin Kadioglu, Sinem ...
Alström syndrome (AS) is characterised by metabolic deficits, retinal dystrophy, sensorineural hearing loss, dilated ... and molecular genetic spectrum of Alstrom syndrome in 44 Turkish kindreds and a literature review of Alstrom syndrome in Turkey ... Differential effects on beta-cell mass by disruption of Bardet-Biedl syndrome or Alstrom syndrome genes. Hum Mol Genet 25:57-68 ... Whole organism transcriptome analysis of zebrafish models of Bardet-Biedl syndrome and Alstrom syndrome provides mechanistic ...
Theory of Mind and Cognitive Function in Adults with Alstrom or Usher Syndrome. Journal of Visual Impairment & Blindness, 110 ( ... 1994). Clinical diagnosis of the Usher syndromes: Usher Syndrome Consortium. American Journal of Medical Genetics, 50 (1), 32- ... Usher syndrome: diagnostic utility of the Asper biotechs genotyping microarray. I: Satpal Ahuja, Usher syndrome: pathogenesis ... 1995). Gene mapping of Usher syndrome type IIa: localization of the gene to a 2.1-cM segment on chromosome 1q41. American ...
Androgen Insensitivity Syndrome , Androgen insensitivity syndrome Definition Androgen insensitivity syndrome is a genetic ... Some specific conditions associated with diabetes mellitus, such as hemachromatosis, and the Laurence-Moon Biedl, Alstrom, and ... XYY syndrome has an incidence of one in 1,000 newborn males. However, since many males with XYY syndrome look like other males ... Turners syndrome. Turners syndrome is a genetic disorder caused by a missing X chromosome that occurs only in females. Women ...
Bardet-Biedl and Alstroms syndromes.. The Tubby gene itself was tracked down in 1996, and similar genes are found across a ...
Alstrom Syndrome UK. © CARMA CREATIVE 2021. TELEPHONE: 01392 920372 / 07730 511090. EMAIL: [email protected]. ...
Obesity and metabolic syndrome (O&MS) due to the worldwide obesity epidemic affects children at all stages of chronic ... and Bardet-Biedl and Alstrom syndromes, are at greater risk of developing new onset diabetes after transplantation as well as ... Table 1 Definitions of metabolic syndrome used in studies in children with CKD. Full size table. ... We define metabolic syndrome as the presence of overweight or obesity and at least 2 of 4 additional CV risk factors:. * a. ...
Learn about Prader-Willi Syndrome, including symptoms, causes, and treatments. If you or a loved one is affected by this ... and Alstrom syndromes, uniparental disomy 14 and several other different chromosomal alterations besides chromosome 15, ... Butler MG, Manzardo AM, Heinemann J, Loker C, Loker J. Causes of death in Prader-Willi syndrome: Prader-Willi Syndrome ... This region of chromosome 15 is located at 15q11.2-q13 and has been designated the Prader-Will syndrome/Angelman syndrome ...
Bardet-Biedl syndrome, Alstrom syndrome, and Meckel-Gruber syndrome. The molecular data linking seemingly unrelated clinical ...
... and Bardet-Biedl and Alstrom syndrome. It is also developing setmelanotide, which is in Phase 3 clinical trials for treating ... Rhythm Pharmaceuticals Announces Publication of Childrens Book for Patients and Families Living with Bardet-Biedl Syndrome (BBS ... Rhythm Pharmaceuticals Announces Early Access Authorization for Setmelanotide for Use in Patients with Bardet-Biedl Syndrome in ... Rhythm Pharmaceuticals Announces Publication of Bardet-Biedl Syndrome Patient and Caregiver Perspectives of Hunger and Quality ...
Alstrom syndrome: a case report.  SATMAN, İlhan; Koray, F.; DÖRTER, Can; Benderli, Y.; YILMAZ, TUĞBA; KARŞIDAĞ, Kubilay; ... Alstrom syndrome is a rare disorder characterized by early obesity, loss of central vision, diabetes mellitus, hearing loss and ...
The primary cilium has also been implicated in other clinical obesities, including the Alstrom syndrome, and the effects of a ... I analyzed structural and molecular physiologic phenotypes cells derived from patients with Bardet-Biedl Syndrome (BBS). BBS is ... Using iPSC-derived neurons to investigate the molecular pathogenesis of obesity in Bardet-Biedl Syndrome (Chapter 4). To ... The primary cilium has also been implicated in other clinical obesities, including the Alstrom syndrome, and the effects of a ...
Alstrom Syndrome International 5k Race for the Cure. - May 11th, 2024 Description ... read more ...
7th Alstrom Syndrome International Family Conference and Scientific Symposium. 9-13 May, Massachusetts, USA, alstrom.org. ... 8th International Prader-Willi Syndrome Conference. 17-21 July, Cambridge UK ipwso.org. October 2013. Mitochondrial Disease: ...
Alstrom syndrome. MedGen UID: 78675. •Concept ID: C0268425. •. Disease or Syndrome. Alström syndrome is characterized by cone- ... Autoimmune lymphoproliferative syndrome type 2B. MedGen UID: 339548. •Concept ID: C1846545. •. Disease or Syndrome. ... Familial cold autoinflammatory syndrome 3. MedGen UID: 482544. •Concept ID: C3280914. •. Disease or Syndrome. ... Brain-lung-thyroid syndrome. MedGen UID: 369694. •Concept ID: C1970269. •. Disease or Syndrome. ...
  • In Alström Syndrome there is a problem with a gene called ALMS1. (alstrom.org.uk)
  • 2002). ALMS1 encodes the Alström syndrome protein 1, which is localized to centrosomes and the base of cilia. (preventiongenetics.com)
  • It is caused by mutations in the gene ALMS1, which is involved in the formation of cellular cilia, making Alström syndrome a ciliopathy. (wikipedia.org)
  • Alström syndrome is caused by a mutation in the ALMS1 gene, located on the short arm of chromosome 2 (2p13.2). (wikipedia.org)
  • This means both parents have to pass a defective copy of the ALMS1 gene in order for their child to have the syndrome, even though the parents may not show signs or symptoms of the condition. (wikipedia.org)
  • Alström syndrome is inherited in an autosomal recessive manner. (medlineplus.gov)
  • Alström syndrome is inherited as an autosomal recessive disorder (Alstrom et al. (preventiongenetics.com)
  • Alström syndrome (AS), also called Alström-Hallgren syndrome, is a very rare autosomal recessive genetic disorder characterised by childhood obesity and multiple organ dysfunction. (wikipedia.org)
  • BACKGROUND: Alstrom syndrome is an extremely rare autosomal recessive genetic disorder characterized by infantile-onset cardiomyopathy (CMP), blindness, hearing impairment/loss, and obesity. (jax.org)
  • INTRODUCTION:Alström syndrome is a rare autosomal recessive genetic disorder,thought to have a prevalence of less than one per million in the general population. (authorea.com)
  • Congenital chloride diarrhea and Pendred syndrome: case report of siblings with two rare recessive disorders of SLC26 family genes. (oru.se)
  • 2007). Although AS bears many similarities to Bardet-Biedl syndrome (BBS), there is no cognitive impairment, polydactyly, or hypogonadism in AS. (preventiongenetics.com)
  • Alström syndrome is sometimes confused with Bardet-Biedl syndrome, another ciliopathy which has similar symptoms, but Bardet-Biedl syndrome tends to have later onset in its symptoms, includes polydactyly and is caused by mutations in BBS genes. (wikipedia.org)
  • 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)
  • Bardet-Biedl syndrome is a rare genetic disease associated with hyperphagia and early-onset, severe obesity. (biomedcentral.com)
  • There is limited evidence on how hyperphagia and obesity affect health-related quality of life in patients with Bardet-Biedl syndrome, and on how management of these symptoms may influence disease burden. (biomedcentral.com)
  • This analysis evaluated changes in health-related quality of life in adults and children with Bardet-Biedl syndrome in a Phase 3 trial following 1 year of setmelanotide treatment (ClinicalTrials.gov identifier: NCT03746522). (biomedcentral.com)
  • Patients with Bardet-Biedl syndrome and obesity received 52 weeks of treatment with setmelanotide and completed various self-reported health-related quality of life measures. (biomedcentral.com)
  • This study highlights the need to address the impaired health-related quality of life in Bardet-Biedl syndrome, and supports utility of setmelanotide for reducing this burden. (biomedcentral.com)
  • A number of families with rare pleiotropic obesity syndromes have been studied by linkage analysis and chromosomal loci for Cohen's syndrome, 8 Alström's syndrome, 9 and at least four for Bardet-Biedl syndrome 10-12 have been mapped so far, although the precise molecular defects are not yet known. (bmj.com)
  • Other known ciliopathies include primary ciliary dyskinesia, Bardet-Biedl syndrome, polycystic liver disease, nephronophthisis, Alstrom syndrome, Meckel-Gruber syndrome and some forms of retinal degeneration. (webdicine.com)
  • The tripartite character of the tubby phenotype is highly similar to human obesity syndromes, such as Alstrom and Bardet-Biedl. (embl.de)
  • Our shared vision is to improve the quality of life for people living with ciliopathy syndromes and conditions. (alstrom.org.uk)
  • ALSTROM HALLGREN SYNDROME WITH CLASSICAL FINDINGS: A RARE CASE REPORT OF MONOGENIC CILIOPATHY CO-OCCURRENCE IN TWINS.Clinical Message: With the prevalence of 1 in million cases Alstorm Hallgren syndrome is one of the rare genetic disorder with poor prognosis. (authorea.com)
  • Cardiac manifestations of Alstrom syndrome: echocardiographic findings" by A N. Makaryus, M E. Zubrow et al. (jax.org)
  • Cardiac manifestations of Alstrom syndrome: echocardiographic findings. (jax.org)
  • Other findings observed in some Alström Syndrome patients include a darkening of areas of the skin, called acanthosis nigricans, scoliosis or curvature of the spine, short stature, and severe pulmonary problems. (pak-digital.com)
  • Recent findings in genetic research have suggested that a large number of genetic disorders, both genetic syndromes and genetic diseases, that were not previously identified in the medical literature as related, may be, in fact, highly related in the genetypical root cause of the widely-varying, phenotypically-observed disorders. (webdicine.com)
  • At this workshop, we will hear about several disorders (Prader-Willi syndrome, ciliopathies, and lipodystrophies) where patients/families have been identified and phenotyped, the causative mutations defined, and progress has been made in elucidating how the affected protein(s) and pathway(s) impact energy balance. (nih.gov)
  • Breia was diagnosed with Alstrom Syndrome back in October 2022. (weareiowa.com)
  • In only 2002, research carried out simultaneously in two laboratories identified the gene, and then further research shed light on what this gene might be doing in all of us, and why alterations of the gene may cause Alström Syndrome. (alstrom.org.uk)
  • Through presentations and discussions, we hope to encourage further investigation of cells from families with rare single gene or syndromic obesity disorders to learn about unknown biological pathways regulating energy balance, and to encourage further human research to shed light on why obesity occurs in some individuals with the "same" syndrome but not in others. (nih.gov)
  • But it's not just a quirk of mouse genetics - these symptoms closely mirror human genetic conditions such as Usher's, Bardet-Biedl and Alstrom's syndromes. (thenakedscientists.com)
  • Failed Progenitor Specification Underlies the Cardiopharyngeal Phenotypes in a Zebrafish Model of 22q11.2 Deletion Syndrome. (harvard.edu)
  • The major phenotypes usually observed in children with Alström Syndrome include cone-rod retinal dystrophy beginning in infancy and leading to eventual juvenile blindness, sensorineural hearing impairment, insulin resistance, and obesity. (authorea.com)
  • In Alport syndrome (AS) a spectrum of phenotypes ranging from progressive renal disease with extrarenal abnormalities to isolated hematuria with a non-progressive or very slowly progressive course is observed. (nih.gov)
  • Individuals with 22q11.2 deletion syndrome (22q11.2DS) can present with a wide range of features that are highly variable, even within families. (nih.gov)
  • Bleeding Severity and Phenotype in 22q11.2 Deletion Syndrome-A Cross-Sectional Investigation. (harvard.edu)
  • Abnormalities in gray matter microstructure in young adults with 22q11.2 deletion syndrome. (harvard.edu)
  • Alström syndrome (AS) is characterised by metabolic deficits, retinal dystrophy, sensorineural hearing loss, dilated cardiomyopathy and multi-organ fibrosis. (springer.com)
  • Obesity and metabolic syndrome (O&MS) due to the worldwide obesity epidemic affects children at all stages of chronic kidney disease (CKD) including dialysis and after kidney transplantation. (springer.com)
  • In this CPR, we discuss the management of obesity and metabolic syndrome (O&MS) in children and adolescents with CKD stages 2-5 and on dialysis, as well as after kidney transplantation, focusing on non-pharmacological treatment (diet, physical activity and behavior modification). (springer.com)
  • Such foods are high in sugar and are calorie-dense which promotes weight gain, metabolic syndromes, and obesity. (dibesity.com)
  • Alström Syndrome UK (ASUK) provides support and advice for individuals and families affected by one of the rarest and most complex conditions in the world, Alström Syndrome (AS) . (smileycharityfilmawards.com)
  • Symptoms for Alström syndrome generally appear during infancy with great variability in age. (wikipedia.org)
  • Considerable variability exists in the expression of the clinical signs of Alström Syndrome, even among siblings. (pak-digital.com)
  • Alström syndrome (AS) is a pleiotropic disorder characterized by retinal degeneration (occurs within the first year of life), childhood obesity, sensorineuronal hearing loss, Insulin resistance, type 2 diabetes, dilated cardiomyopathy and urological, renal, hepatic and pulmonary dysfunctions. (preventiongenetics.com)
  • Prader-Willi syndrome (PWS) is a genetic multisystem disorder characterized during infancy by lethargy, diminished muscle tone (hypotonia), a weak suck and feeding difficulties with poor weight gain and growth and other hormone deficiency. (rarediseases.org)
  • also known as Hunter syndrome) is an X-linked multisystem disorder characterized by glycosaminoglycan (GAG) accumulation. (nih.gov)
  • We will achieve this by implementing an EU registry for Rare Diabetes Syndromes (RDS), containing clinical, genetic diagnostic and outcome data. (europa.eu)
  • Alström syndrome is characterized by cone-rod dystrophy, obesity, progressive bilateral sensorineural hearing impairment, acute infantile-onset cardiomyopathy and/or adolescent- or adult-onset restrictive cardiomyopathy, insulin resistance / type 2 diabetes mellitus (T2DM), nonalcoholic fatty liver disease (NAFLD), and chronic progressive kidney disease. (nih.gov)
  • However, recent studies of genetic syndromes of obesity in rodents have provided several novel insights into molecules which may be involved in energy homoeostasis. (bmj.com)
  • Prior reports have demonstrated that the dilated CMP of Alstrom syndrome occurs in about 62% of patients with this syndrome. (jax.org)
  • Turner's syndrome occurs in approximately one out of every 2,500 live births. (encyclopedia.com)
  • Of all the chromosomal abnormalities that result in spontaneous abortion or miscarriage, Turner's syndrome is the most common, accounting for about 20 percent of all miscarriages. (encyclopedia.com)
  • It encompasses several syndromes with overlapping abnormalities including the DIGEORGE SYNDROME, VELOCARDIOFACIAL SYNDROME, and CONOTRUNCAL AMOMALY FACE SYNDROME. (harvard.edu)
  • CONCLUSIONS: The Alstrom CMP in this cohort of patients was typically dilated and nonsegmental with predominantly biventricular involvement. (jax.org)
  • It is possible to clinically detect Alström syndrome in infancy, but more frequently, it is detected much later, as doctors tend to detect symptoms as separate problems. (wikipedia.org)
  • A large number of the symptoms of Alström Syndrome can be readily explained by cilia not working properly. (alstrom.org.uk)
  • However, some symptoms of Alström Syndrome are difficult to explain, and defective cilia may not be the direct cause of everything related to the disease (see Future Research, below). (alstrom.org.uk)
  • This results in similar symptoms to those seen in Alström Syndrome. (alstrom.org.uk)
  • Candidates for this test are patients with symptoms consistent with Alström syndrome. (preventiongenetics.com)
  • Prognosis varies depending on the specific combination of symptoms, but individuals with Alström syndrome rarely live beyond 50. (wikipedia.org)
  • Alström Syndrome is a genetic disease. (alstrom.org.uk)
  • To date, there have been no reports examining the echocardiographic features of Alstrom-related heart disease. (jax.org)
  • An inherited, degenerative disease also known as Louis-Bar syndrome. (keefelaw.com)
  • Currently there are no specific treatments for Alström syndrome that can cure the disease, prevent the complications, or reverse the complications. (authorea.com)
  • Also, the onset of visual problems differs from BBS (average age of onset is 8.5 years) (Alstrom et al. (preventiongenetics.com)
  • Why do cilia go wrong in Alström Syndrome? (alstrom.org.uk)
  • In people with Alström Syndrome the protein is not made correctly and so cannot do its job, making the cilia work incorrectly. (alstrom.org.uk)
  • Again, fibrosis is a complex problem that is probably not caused by cilia not working properly, and it is not clear why it is so common in Alström Syndrome. (alstrom.org.uk)
  • What is the cause of the fibrosis that affects various organs in Alström Syndrome (e.g. heart, kidney, liver)? (alstrom.org.uk)
  • Kallman's syndrome (KS) is the most frequent cause of hypogonadotropic hypogonadism and affects approximately one in 10,000 males and one in 50,000 females. (encyclopedia.com)
  • This graph shows the total number of publications written about "Alstrom Syndrome" by people in this website by year, and whether "Alstrom Syndrome" was a major or minor topic of these publications. (uchicago.edu)
  • Below are the most recent publications written about "Alstrom Syndrome" by people in Profiles. (uchicago.edu)
  • Developmental delay is seen in almost half of people with Alström syndrome. (wikipedia.org)
  • Similarities and Differences in Health, Social Trust, and Financial Situation in People With Usher Syndrome, a Bio-Psychosocial Perspective. (oru.se)
  • The lived experiences of work and health of people living with deaf-blindness due to Usher syndrome type 2. (oru.se)
  • Life strategies of people with deafblindness due to Usher syndrome type 2a-a qualitative study. (oru.se)
  • Not all people who have Alström Syndrome will experience all of these features. (pak-digital.com)
  • Renal transplantation has been successful in several individuals with Alstrom Syndrome. (pak-digital.com)
  • Usher and Waardenburg syndrome were the most common etiologies in this subgroup. (medscape.com)
  • Health, work, social trust, and financial situation in persons with Usher syndrome type 1. (oru.se)
  • METHODS: Eleven patients diagnosed with Alstrom syndrome who underwent one or more transthoracic echocardiograms from 1994 to 2003 were retrospectively evaluated. (jax.org)
  • Alstrom Syndrome International is a 501 (c) (3) Registered Charity. (alstrom.org)
  • Since the charity formed in 1998, we have worked tirelessly to ensure families who are affected by Alström Syndrome are supported and empowered to live a healthy, active, and fulfilled life. (smileycharityfilmawards.com)
  • In addition, variable developmental problems and schizoid features are also associated with this syndrome. (harvard.edu)
  • Diagnosis of Alström Syndrome can be difficult because some features begin at birth and others emerge as the child develops. (authorea.com)