Exfoliation Syndrome
Lens Diseases
Amino Acid Oxidoreductases
Djibouti
Glaucoma, Open-Angle
Tooth Exfoliation
Glaucoma
Iris
Anterior Chamber
Haplotypes
Polymorphism, Single Nucleotide
Case-Control Studies
Gene Frequency
Exfoliatins
Alleles
Lens Capsule, Crystalline
Antigens, CD57
Tooth, Deciduous
Encyclopedias as Topic
Scandinavia
Loss of heterozygosity in pseudoexfoliation syndrome. (1/182)
PURPOSE: Pseudoexfoliation (PEX) syndrome is characterized by the accumulation of a material of unknown origin in the anterior structures of the eye. Loss of heterozygosity (LOH) in a genetic locus indicates the presence of a gene located in the same region that could be implicated in the development or the progression of a disease. In this study, the occurrence of LOH in tissues involved in PEX and the possible correlation of LOH incidence with clinical parameters were evaluated. METHODS: Twelve iris specimens, 12 anterior capsule specimens, and respective blood samples were obtained from 17 patients with PEX (13 men), who were undergoing glaucoma and cataract surgery. Sixteen anterior capsule specimens and four iris specimens were obtained from 16 patients without PEX. Polymerase chain reaction was used to amplify 10 highly polymorphic microsatellite markers located on chromosomes 1, 7, 9, and 13. RESULTS: Overall, 83.3% (20/24) of PEX specimens and 94.11% (16/17) of patients with PEX had LOH. The highest incidence of LOH was observed in marker D13S175 (41.6%) followed by D7S478 and D7S479 (37.5%). Only three non-PEX specimens displayed LOH. The number of loci lost was directly related to the altitude of the patients' present residence, but the number lost did not differ significantly between the iris and capsule samples. CONCLUSIONS: The occurrence of LOH in tissues involved in PEX implies a genetic role in PEX pathogenesis at a cellu lar level. The correlation of LOH incidence with the altitude of the patient's residence, could indicate an increased susceptibility to UV radiation of the chromosomal regions examined. (+info)Combined exfoliation and pigment dispersion: an overlap syndrome. (2/182)
PURPOSE: To describe a series of patients with combined pigment dispersion syndrome (PDS) and exfoliation syndrome (XFS) and to introduce a concept, the overlap syndrome, to aid in assessing multiple risk factors for glaucomatous damage. METHODS: A retrospective review of the records of all patients on our database who carried a diagnosis of both PDS/pigmentary glaucoma (PG) and XFS/exfoliative glaucoma (XFG). RESULTS: We identified 26 patients as having both XFS/XFG and PDS/PG. The average age was 64.3 +/- 9.8 years and 19 of 26 were men. All patients had bilateral PDS/PG. Bilateral XFS/XFG was present in 9 of 26 patients, and of the 17 patients with unilateral involvement, the left eye was affected in 13. CONCLUSION: Both XFS and PDS are common. Middle-aged patients with known PDS/PG should be suspected of having the onset of XFS if 1 eye escapes intraocular pressure control. Patients presenting with unilateral XFG may also have signs of PDS/PG, often remitted. We define an overlap syndrome as the appearance of a new co-morbidity for glaucomatous damage in a patient with a pre-existing risk factor, which then changes the course, and prognosis of the disease. This concept should be particularly useful in dealing with secondary and normal-tension glaucoma. (+info)mRNA in situ hybridization of TIGR/MYOC in human trabecular meshwork. (3/182)
PURPOSE: To determine the distribution of mRNA expression of the trabecular meshwork-induced glucocorticoid response protein/myocilin (TIGR/MYOC) in human trabecular meshwork. METHODS: In situ hybridization using a 1.25-kb probe obtained from reverse transcription-polymerase chain reaction of TIGR/MYOC cDNA was performed to determine the location of cell labeling within the different regions of the meshwork. The effect of dexamethasone on the pattern of labeling was studied in organ cultured meshwork. Trabecular meshwork from three sources was studied: enucleated eyes obtained at autopsy, trabeculectomy specimens obtained during filtration surgery, and meshworks from anterior segments in perfusion organ culture. Hybridization was performed on frozen sections, paraffin sections, and sections from JB-4 plastic-embedded tissue. RESULTS: Labeling for TIGR/MYOC mRNA was present in most trabecular cells of the uveal, corneoscleral, and juxtacanalicular regions but only variably present in the endothelial cells of Schlemm's canal. A similar pattern was found in the trabeculectomy specimens from eyes with primary open-angle or pseudoexfoliative glaucoma. Dexamethasone treatment increased the labeling intensity and number of labeled cells in meshwork, and also the number of labeled endothelial cells of Schlemm's canal. Fresh tissue processed within 12 hours postmortem gave more consistent labeling than older tissue, although some label was found up to 48 hours postmortem. Labeling was found in tissue from all three sources, and with all three embedding techniques; JB-4 sections provided the best morphologic resolution. CONCLUSIONS: In situ hybridization reveals that mRNA expression for TIGR/MYOC is present in most cells in all regions of the meshwork but only variably present in the endothelial cells of Schlemm's canal. Dexamethasone treatment increased the number and intensity of labeled cells, and also increased the number of labeled cells in the endothelial lining of Schlemm's canal. (+info)Combined pars plana lensectomy-vitrectomy with open-loop flexible anterior chamber intraocular lens (AC IOL) implantation for subluxated lenses. (4/182)
OBJECTIVES: To review our experience with combined pars plana lensectomy-vitrectomy and open-loop flexible anterior chamber intraocular lens (AC IOL) implantation for managing subluxated crystalline lenses. METHODS: Retrospective review of 36 consecutive eyes (28 patients), all of which had subluxated crystalline lenses, managed by pars plana lensectomy-vitrectomy with insertion of an open-loop flexible AC IOL. The study was performed at the Medical College of Wisconsin, Milwaukee, over an 8-year period. RESULTS: An average preoperative visual acuity of 20/163 (range, 20/25 to hand motions) improved to 20/36 (range, 20/20 to 4/200) with surgery after a mean follow-up of 14 months (range, 1 to 59 months) (P < .001, Student's paired t test). Final visual acuity of 20/40 or better was achieved in 75% of eyes (27/36). Complications included cystoid macular edema (8% [3/36]), pupillary block (6% [2/36]), retinal detachment (3% [1/36]), hyphema (3% [1/36]), wound leak (3% [1/36]), and transient vitreous hemorrhage (3% [1/36]). No persistent ocular hypertension was seen, nor did angle abnormalities or corneal decompensation develop. CONCLUSIONS: Pars plana lensectomy-vitrectomy with AC IOL implantation appears to be an excellent technique for managing subluxated crystalline lenses. It is associated with a significant improvement in visual acuity (P < .001) and avoids many of the complications seen with extraction of a subluxated lens through a limbal wound. Additionally, use of an AC IOL offers a simplified alternative to placement of a ciliary sulcus sutured posterior chamber intraocular lens (PC IOL). (+info)Scanning laser ophthalmoscopy of the optic nerve head in exfoliation glaucoma and ocular hypertension with exfoliation syndrome. (5/182)
AIMS: To study the relation between optic nerve head topography (Heidelberg retina tomograph, HRT) and disc area, visual field index mean defect (MD), and intraocular pressure (IOP), and to see whether change in HRT parameters is associated with change in MD in a prospective follow up. METHODS: 80 consecutive patients (69 patients with exfoliation glaucoma and 11 with ocular hypertension combined with exfoliation syndrome) were examined before IOP reducing intervention and prospectively followed every 6 months for 2 years. RESULTS: At the entry point, multiple regression analysis showed significant linear association between MD and all HRT parameters, when controlling for disc area. Disc area showed significant association with cup area, cup/disc area ratio, rim area, cup volume, and mean RNFL thickness. Six months after intervention IOP had decreased significantly. Reversible changes in cup area, cup/disc area ratio, rim area, cup volume, rim volume, mean cup depth, and maximum cup depth were associated with decrease in IOP. During the follow up period from 6 month to 2 years, IOP did not change significantly, and MD was used as a measure of progression of glaucoma. During this period, only cup shape measure among HRT parameters showed significant association with subsequent change in MD. CONCLUSION: Disc area should be taken into account when using HRT to compare patients. Any effect of change in IOP should be also taken into account when using HRT in follow up. Cup shape measure is a promising indicator of progression of glaucomatous damage. (+info)Pseudoexfoliation syndrome in Icelandic families. (6/182)
AIM: To examine the distribution and clinical ophthalmic characteristics of pseudoexfoliation syndrome (pseudoexfoliation) and glaucoma in Icelandic families. METHODS: Icelandic families containing three or more members aged 70 or older with at least one member with pseudoexfoliation were identified. All family members over age 45 were invited to participate. Visual acuity, Goldmann applanation tonometry, gonioscopy, slit lamp examination before and after dilatation, and dilated fundus examination were performed on all available family members. Pertinent data were obtained from medical records, including ophthalmic history and a medical history of cardiovascular disease, cerebrovascular disease, systemic hypertension, and diabetes mellitus. Participants were classified according to affected status for pseudoexfoliation, glaucoma, and age related macular degeneration. RESULTS: Six families were identified who met the criteria for entry into the study. Of 94 family members who were invited to participate 82 were enrolled (87%). Of these 25 (30%) had pseudoexfoliation syndrome, 51 (62%) were unaffected, and six (7%) were suspects. At least one individual with pseudoexfoliation was identified in the second generation of every family. A parent with pseudoexfoliation was identified in all cases either by examination (4/6) or a review of ophthalmic records (2/6). In all cases the mother was the affected parent. The prevalence of glaucoma was significantly greater in the group with pseudoexfoliation (p <0.0001). Although the presence of age related macular degeneration (ARMD) was highly associated with the presence of pseudoexfoliation, the significance was lost after correction for age (p = 0.69). Although the sample size was small, no association between pseudoexfoliation affected status and cardiovascular disease, cerebrovascular disease, systemic hypertension, or diabetes mellitus was found. CONCLUSIONS: Multiple Icelandic families with pseudoexfoliation in two generations were identified. In all cases where determination was possible, transmission to the second generation was through an affected parent. In each case the affected parent was the mother. Pseudoexfoliation was strongly associated with the presence of glaucoma, but was not associated with either ARMD or systemic disease in this study. These data clearly indicate that pseudoexfoliation is a familial condition and although not conclusive, supports the hypothesis that pseudoexfoliation syndrome is genetically inherited. (+info)DNA sequence variants in the tyrosinase-related protein 1 (TYRP1) gene are not associated with human pigmentary glaucoma. (7/182)
PURPOSE: Pigmentary glaucoma is a common form of glaucoma affecting young adults. Previous studies have suggested that multiple factors, including multiple genetic factors, may be responsible for this condition. Recently, a form of glaucoma associated with pigment dispersion and iris atrophy was identified in the DBA/2J mouse. Abnormalities in the mouse Tyrp1 gene contribute to this condition. The purpose of this study was to determine if DNA sequence variants in the human TYRP1 gene are associated with pigmentary glaucoma in humans. METHODS: The protein coding regions and intron/exon boundaries of the human TYRP1 gene were sequenced using genomic DNA samples from probands from pedigrees affected by pigment dispersion syndrome and pigmentary glaucoma. RESULTS: Three novel synonymous single nucleotide polymorphisms (SNPs) were found in two affected individuals. However, these polymorphisms did not define a haplotype that segregated with the disease in the families. DNA sequence variants that altered the amino acid sequence of TYRP1 were not found. CONCLUSIONS: Despite the phenotypic similarity between the glaucoma in the DBA/2J mouse and human pigmentary glaucoma, the results of this study suggest that DNA sequence variants in the human TYRP1 gene are not associated with inherited pigmentary glaucoma in humans. (+info)Pseudoexfoliation and sensorineural hearing loss. (8/182)
AIMS: There is increasing evidence that pseudoexfoliation (PXF) not only affects ocular anterior segment structures, but may also be a systemic disease. This study was undertaken to assess the relationship between PXF and sensorineural hearing loss. METHODS: Patients with PXF were identified from hospital records and underwent complete ocular examination. The sum of pure-tone hearing thresholds measured at 1, 2 and 3 kHz (HTL1,2,3) in each ear was compared with the ISO 7029 standard sex-matched, median age-associated hearing loss summed over the same frequencies (AAHL1,2,3). The proportion of ears with thresholds higher than the ISO 7029 median AAHL1,2,3 on the same side as eyes without PXF was compared with the proportion of ears ipsilateral to eyes with PXF but without glaucoma and similarly the proportion of ears on the same side as eyes with PXF and glaucoma. RESULTS: In total, 69 patients were studied, of whom 39 were male (56.5%). The mean age of the male patients was 75.8 years, while that of the female group was 75.1 years. All patients had PXF affecting at least one eye. Overall 101 ears (73.7%) had a higher HTL1,2,3 than the ISO 7029 median AAHL1,2,3 which included 56 ears of 78 in the male group (71.8%) and 45 ears of 59 in the female group (76.3%). There was no significant difference between the proportion of ears with HTL1,2,3 higher than the ISO 7029 median AAHL1,2,3 on the same side as eyes without PXF, with PXF but not glaucoma and with PXF and glaucoma, in either the male or female groups. CONCLUSIONS: A large proportion of patients with PXF have sensorineural hearing loss in comparison to age-matched controls, regardless of whether or not there is associated glaucoma. This finding supports the theory that PXF may be a systemic condition. (+info)Exfoliation syndrome is a medical condition that affects the eyes. It is characterized by the progressive loss of the tissue that covers and protects the front part of the eye, called the cornea and the iris. This tissue is called the extracellular matrix, which is produced and maintained by the cells called fibroblasts. In exfoliation syndrome, these fibroblasts produce an abnormal protein that clumps together and forms white flakes that can be seen on the front surface of the eye. These flakes are made up of fibrillar extracellular matrix material, which is thought to come from the breakdown of the normal extracellular matrix. Over time, these flakes can build up and cause damage to the eye, leading to a variety of complications such as increased intraocular pressure, glaucoma, cataracts, and corneal endothelial decompensation.
Exfoliation syndrome is typically a bilateral disease, meaning that it affects both eyes, although one eye may be more severely affected than the other. It is also associated with an increased risk of developing glaucoma, which can lead to optic nerve damage and vision loss if left untreated. The exact cause of exfoliation syndrome is not fully understood, but it is thought to have a genetic component, as it has been found to cluster in families. Additionally, there are environmental factors that may increase the risk of developing exfoliation syndrome such as UV exposure, smoking and certain medications.
It's important to note that Exfoliation Syndrome can be asymptomatic at early stages, but regular eye examinations with an ophthalmologist is recommended for people over 40 years old or those who have a family history of the condition. Early detection and management of exfoliation syndrome can help prevent or slow down the progression of complications associated with it.
Lens diseases refer to conditions that affect the lens of the eye, which is a transparent structure located behind the iris and pupil. The main function of the lens is to focus light onto the retina, enabling clear vision. Here are some examples of lens diseases:
1. Cataract: A cataract is a clouding of the lens that affects vision. It is a common age-related condition, but can also be caused by injury, disease, or medication.
2. Presbyopia: This is not strictly a "disease," but rather an age-related change in the lens that causes difficulty focusing on close objects. It typically becomes noticeable in people over the age of 40.
3. Lens dislocation: This occurs when the lens slips out of its normal position, usually due to trauma or a genetic disorder. It can cause vision problems and may require surgical intervention.
4. Lens opacity: This refers to any clouding or opacification of the lens that is not severe enough to be considered a cataract. It can cause visual symptoms such as glare or blurred vision.
5. Anterior subcapsular cataract: This is a type of cataract that forms in the front part of the lens, often as a result of injury or inflammation. It can cause significant visual impairment.
6. Posterior subcapsular cataract: This is another type of cataract that forms at the back of the lens, often as a result of diabetes or certain medications. It can also cause significant visual impairment.
Overall, lens diseases can have a significant impact on vision and quality of life, and may require medical intervention to manage or treat.
Amino acid oxidoreductases are a class of enzymes that catalyze the reversible oxidation and reduction reactions involving amino acids. They play a crucial role in the metabolism of amino acids by catalyzing the interconversion of L-amino acids to their corresponding α-keto acids, while simultaneously reducing a cofactor such as NAD(P)+ or FAD.
The reaction catalyzed by these enzymes can be represented as follows:
L-amino acid + H2O + Coenzyme (Oxidized) → α-keto acid + NH3 + Coenzyme (Reduced)
Amino acid oxidoreductases are classified into two main types based on their cofactor requirements and reaction mechanisms. The first type uses FAD as a cofactor and is called amino acid flavoprotein oxidoreductases. These enzymes typically catalyze the oxidative deamination of L-amino acids to form α-keto acids, ammonia, and reduced FAD. The second type uses pyridine nucleotides (NAD(P)+) as cofactors and is called amino acid pyridine nucleotide-dependent oxidoreductases. These enzymes catalyze the reversible interconversion of L-amino acids to their corresponding α-keto acids, while simultaneously reducing or oxidizing NAD(P)H/NAD(P)+.
Amino acid oxidoreductases are widely distributed in nature and play important roles in various biological processes, including amino acid catabolism, nitrogen metabolism, and the biosynthesis of various secondary metabolites. Dysregulation of these enzymes has been implicated in several diseases, including neurodegenerative disorders and cancer. Therefore, understanding the structure, function, and regulation of amino acid oxidoreductases is crucial for developing novel therapeutic strategies to treat these diseases.
I'm sorry for any confusion, but "Djibouti" is a country located in the Horn of Africa. It does not have a medical definition. If you have any questions about Djibouti's geography, culture, or history, I would be happy to try to help answer them! However, if you have a question about a medical term or concept, please let me know and I will do my best to provide a helpful and accurate response.
Open-angle glaucoma is a chronic, progressive type of glaucoma characterized by the gradual loss of optic nerve fibers and resulting in visual field defects. It is called "open-angle" because the angle where the iris meets the cornea (trabecular meshwork) appears to be normal and open on examination. The exact cause of this condition is not fully understood, but it is associated with increased resistance to the outflow of aqueous humor within the trabecular meshwork, leading to an increase in intraocular pressure (IOP). This elevated IOP can cause damage to the optic nerve and result in vision loss.
The onset of open-angle glaucoma is often asymptomatic, making regular comprehensive eye examinations crucial for early detection and management. Treatment typically involves lowering IOP using medications, laser therapy, or surgery to prevent further optic nerve damage and preserve vision.
Iris diseases refer to a variety of conditions that affect the iris, which is the colored part of the eye that regulates the amount of light reaching the retina by adjusting the size of the pupil. Some common iris diseases include:
1. Iritis: This is an inflammation of the iris and the adjacent tissues in the eye. It can cause pain, redness, photophobia (sensitivity to light), and blurred vision.
2. Aniridia: A congenital condition characterized by the absence or underdevelopment of the iris. This can lead to decreased visual acuity, sensitivity to light, and an increased risk of glaucoma.
3. Iris cysts: These are fluid-filled sacs that form on the iris. They are usually benign but can cause vision problems if they grow too large or interfere with the function of the eye.
4. Iris melanoma: A rare type of eye cancer that develops in the pigmented cells of the iris. It can cause symptoms such as blurred vision, floaters, and changes in the appearance of the iris.
5. Iridocorneal endothelial syndrome (ICE): A group of rare eye conditions that affect the cornea and the iris. They are characterized by the growth of abnormal tissue on the back surface of the cornea and can lead to vision loss.
It is important to seek medical attention if you experience any symptoms of iris diseases, as early diagnosis and treatment can help prevent complications and preserve your vision.
Tooth exfoliation is not a term that is commonly used in dental or medical literature. However, I believe you may be referring to the natural process of tooth loss that occurs with the shedding of primary (baby) teeth to make way for permanent (adult) teeth. This process is also known as physical or physiological tooth exfoliation.
Exfoliation in this context refers to the separation and shedding of the primary tooth's root from the underlying permanent tooth, allowing the permanent tooth to erupt into its proper position. The primary tooth becomes loose due to the resorption of its roots by the developing permanent tooth beneath it. Eventually, the primary tooth falls out, making room for the adult tooth to emerge and take its place in the dental arch.
It is essential to maintain good oral hygiene during this process to prevent any potential complications such as infection or premature loss of primary teeth.
Glaucoma is a group of eye conditions that damage the optic nerve, often caused by an abnormally high pressure in the eye (intraocular pressure). This damage can lead to permanent vision loss or even blindness if left untreated. The most common type is open-angle glaucoma, which has no warning signs and progresses slowly. Angle-closure glaucoma, on the other hand, can cause sudden eye pain, redness, nausea, and vomiting, as well as rapid vision loss. Other less common types of glaucoma also exist. While there is no cure for glaucoma, early detection and treatment can help slow or prevent further vision loss.
In medical terms, the iris refers to the colored portion of the eye that surrounds the pupil. It is a circular structure composed of thin, contractile muscle fibers (radial and circumferential) arranged in a regular pattern. These muscles are controlled by the autonomic nervous system and can adjust the size of the pupil in response to changes in light intensity or emotional arousal. By constricting or dilating the iris, the amount of light entering the eye can be regulated, which helps maintain optimal visual acuity under various lighting conditions.
The color of the iris is determined by the concentration and distribution of melanin pigments within the iris stroma. The iris also contains blood vessels, nerves, and connective tissue that support its structure and function. Anatomically, the iris is continuous with the ciliary body and the choroid, forming part of the uveal tract in the eye.
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.
The anterior chamber is the front portion of the eye, located between the cornea (the clear front "window" of the eye) and the iris (the colored part of the eye). It is filled with a clear fluid called aqueous humor that provides nutrients to the structures inside the eye and helps maintain its shape. The anterior chamber plays an important role in maintaining the overall health and function of the eye.
Intraocular pressure (IOP) is the fluid pressure within the eye, specifically within the anterior chamber, which is the space between the cornea and the iris. It is measured in millimeters of mercury (mmHg). The aqueous humor, a clear fluid that fills the anterior chamber, is constantly produced and drained, maintaining a balance that determines the IOP. Normal IOP ranges from 10-21 mmHg, with average values around 15-16 mmHg. Elevated IOP is a key risk factor for glaucoma, a group of eye conditions that can lead to optic nerve damage and vision loss if not treated promptly and effectively. Regular monitoring of IOP is essential in diagnosing and managing glaucoma and other ocular health issues.
Pigmentation, in a medical context, refers to the coloring of the skin, hair, or eyes due to the presence of pigment-producing cells called melanocytes. These cells produce a pigment called melanin, which determines the color of our skin, hair, and eyes.
There are two main types of melanin: eumelanin and pheomelanin. Eumelanin is responsible for brown or black coloration, while pheomelanin produces a red or yellow hue. The amount and type of melanin produced by melanocytes can vary from person to person, leading to differences in skin color and hair color.
Changes in pigmentation can occur due to various factors such as genetics, exposure to sunlight, hormonal changes, inflammation, or certain medical conditions. For example, hyperpigmentation refers to an excess production of melanin that results in darkened patches on the skin, while hypopigmentation is a condition where there is a decreased production of melanin leading to lighter or white patches on the skin.
A haplotype is a group of genes or DNA sequences that are inherited together from a single parent. It refers to a combination of alleles (variant forms of a gene) that are located on the same chromosome and are usually transmitted as a unit. Haplotypes can be useful in tracing genetic ancestry, understanding the genetic basis of diseases, and developing personalized medical treatments.
In population genetics, haplotypes are often used to study patterns of genetic variation within and between populations. By comparing haplotype frequencies across populations, researchers can infer historical events such as migrations, population expansions, and bottlenecks. Additionally, haplotypes can provide information about the evolutionary history of genes and genomic regions.
In clinical genetics, haplotypes can be used to identify genetic risk factors for diseases or to predict an individual's response to certain medications. For example, specific haplotypes in the HLA gene region have been associated with increased susceptibility to certain autoimmune diseases, while other haplotypes in the CYP450 gene family can affect how individuals metabolize drugs.
Overall, haplotypes provide a powerful tool for understanding the genetic basis of complex traits and diseases, as well as for developing personalized medical treatments based on an individual's genetic makeup.
Single Nucleotide Polymorphism (SNP) is a type of genetic variation that occurs when a single nucleotide (A, T, C, or G) in the DNA sequence is altered. This alteration must occur in at least 1% of the population to be considered a SNP. These variations can help explain why some people are more susceptible to certain diseases than others and can also influence how an individual responds to certain medications. SNPs can serve as biological markers, helping scientists locate genes that are associated with disease. They can also provide information about an individual's ancestry and ethnic background.
A case-control study is an observational research design used to identify risk factors or causes of a disease or health outcome. In this type of study, individuals with the disease or condition (cases) are compared with similar individuals who do not have the disease or condition (controls). The exposure history or other characteristics of interest are then compared between the two groups to determine if there is an association between the exposure and the disease.
Case-control studies are often used when it is not feasible or ethical to conduct a randomized controlled trial, as they can provide valuable insights into potential causes of diseases or health outcomes in a relatively short period of time and at a lower cost than other study designs. However, because case-control studies rely on retrospective data collection, they are subject to biases such as recall bias and selection bias, which can affect the validity of the results. Therefore, it is important to carefully design and conduct case-control studies to minimize these potential sources of bias.
Gene frequency, also known as allele frequency, is a measure in population genetics that reflects the proportion of a particular gene or allele (variant of a gene) in a given population. It is calculated as the number of copies of a specific allele divided by the total number of all alleles at that genetic locus in the population.
For example, if we consider a gene with two possible alleles, A and a, the gene frequency of allele A (denoted as p) can be calculated as follows:
p = (number of copies of allele A) / (total number of all alleles at that locus)
Similarly, the gene frequency of allele a (denoted as q) would be:
q = (number of copies of allele a) / (total number of all alleles at that locus)
Since there are only two possible alleles for this gene in this example, p + q = 1. These frequencies can help researchers understand genetic diversity and evolutionary processes within populations.
Skin manifestations refer to visible changes on the skin that can indicate an underlying medical condition or disease process. These changes can include rashes, lesions, discoloration, eruptions, blisters, hives, and other abnormalities. The appearance, distribution, and pattern of these manifestations can provide important clues for healthcare professionals to diagnose and manage the underlying condition.
Skin manifestations can be caused by a wide range of factors, including infections, inflammatory conditions, allergic reactions, genetic disorders, autoimmune diseases, and cancer. In some cases, skin manifestations may be the primary symptom of a medical condition, while in other cases, they may be a secondary effect of medication or treatment.
It is important to note that while skin manifestations can provide valuable diagnostic information, they should always be evaluated in the context of the patient's overall medical history and presentation. A thorough physical examination and appropriate diagnostic tests are often necessary to confirm a diagnosis and develop an effective treatment plan.
I'm sorry for any confusion, but "Exfoliatins" is not a recognized medical term or a known medical condition. It seems like there might be a spelling mistake or a mix-up with the terminology. Exfoliation refers to the natural process of shedding dead skin cells from the surface of the skin. If you have any specific concerns about skin issues or other health problems, I would recommend consulting a healthcare professional for accurate information and advice tailored to your situation.
An allele is a variant form of a gene that is located at a specific position on a specific chromosome. Alleles are alternative forms of the same gene that arise by mutation and are found at the same locus or position on homologous chromosomes.
Each person typically inherits two copies of each gene, one from each parent. If the two alleles are identical, a person is said to be homozygous for that trait. If the alleles are different, the person is heterozygous.
For example, the ABO blood group system has three alleles, A, B, and O, which determine a person's blood type. If a person inherits two A alleles, they will have type A blood; if they inherit one A and one B allele, they will have type AB blood; if they inherit two B alleles, they will have type B blood; and if they inherit two O alleles, they will have type O blood.
Alleles can also influence traits such as eye color, hair color, height, and other physical characteristics. Some alleles are dominant, meaning that only one copy of the allele is needed to express the trait, while others are recessive, meaning that two copies of the allele are needed to express the trait.
The crystalline lens of the eye is covered by a transparent, elastic capsule known as the lens capsule. This capsule is made up of collagen and forms the continuous outer layer of the lens. It is highly resistant to both physical and chemical insults, which allows it to protect the lens fibers within. The lens capsule is important for maintaining the shape and transparency of the lens, which are essential for proper focusing of light onto the retina.
CD57 is a protein found on the surface of some immune cells, specifically natural killer (NK) cells and certain T-cells. It is often used as a marker to identify these populations of cells. Antigens are substances that can stimulate an immune response, leading to the production of antibodies. In the context of CD57, antigens would refer to any substance that can bind to the CD57 protein on the surface of NK or T-cells.
It's worth noting that CD57 has been studied as a potential marker for certain diseases and conditions, such as HIV infection and some types of cancer. However, its use as a diagnostic or prognostic marker is still a subject of ongoing research and debate.
A deciduous tooth, also known as a baby tooth or primary tooth, is a type of temporary tooth that humans and some other mammals develop during childhood. They are called "deciduous" because they are eventually shed and replaced by permanent teeth, much like how leaves on a deciduous tree fall off and are replaced by new growth.
Deciduous teeth begin to form in the womb and start to erupt through the gums when a child is around six months old. By the time a child reaches age three, they typically have a full set of 20 deciduous teeth, including incisors, canines, and molars. These teeth are smaller and less durable than permanent teeth, but they serve important functions such as helping children chew food properly, speak clearly, and maintain space in the jaw for the permanent teeth to grow into.
Deciduous teeth usually begin to fall out around age six or seven, starting with the lower central incisors. This process continues until all of the deciduous teeth have been shed, typically by age 12 or 13. At this point, the permanent teeth will have grown in and taken their place, with the exception of the wisdom teeth, which may not erupt until later in adolescence or early adulthood.
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.
I'm sorry for any confusion, but "Scandinavia" is not a medical term and does not have a medical definition. Scandinavia refers to a geographical region in northern Europe, consisting of Denmark, Norway, and Sweden. At times, Finland and Iceland are also included in the definition. If you have any questions related to medicine or health, I would be happy to try to help answer them.
Amyloidogenic proteins are misfolded proteins that can form amyloid fibrils, which are insoluble protein aggregates with a characteristic cross-beta sheet quaternary structure. These amyloid fibrils can accumulate in various tissues and organs, leading to the formation of amyloid deposits. The accumulation of amyloidogenic proteins and the resulting amyloid deposits have been associated with several neurodegenerative diseases, including Alzheimer's disease, Parkinson's disease, and Huntington's disease, as well as systemic amyloidoses.
In Alzheimer's disease, for example, the amyloidogenic protein is beta-amyloid, which is produced from the proteolytic processing of the amyloid precursor protein (APP). In Parkinson's disease, the amyloidogenic protein is alpha-synuclein, which forms the main component of Lewy bodies.
It's important to note that not all misfolded proteins are necessarily amyloidogenic, and not all amyloid fibrils are associated with disease. Some amyloid fibrils can have functional roles in normal physiological processes.
Pseudoexfoliation syndrome
John G. Lindberg
Proteinopathy
Keratolysis exfoliativa
Gluten-related disorders
Secondary glaucoma
Verosudil
Stages of death
LOXL1
Papillon-Lefèvre syndrome
Trichorrhexis invaginata
Exfoliation
XFS (disambiguation)
Down syndrome
Lindberg (surname)
List of MeSH codes (C11)
Nikolsky's sign
Glaucoma
Anatomical pathology
List of acronyms: X
Staphylococcus hyicus
Skin sloughing
Keratosis pilaris
Cutibacterium acnes
Epidural hematoma
Horse hoof
Haemophilia B
Palatal lift prosthesis
Isotretinoin
Human tooth development
Peripapillary and Macular Vessel Density Measurement With Optical Coherence Tomography Angiography in Exfoliation Syndrome.
Molecular Vision: Evaluation of CNTNAP2 gene polymorphisms for exfoliation syndrome in Japanese
Molecular Vision: Evaluation of MMP1 and MMP3 gene polymorphisms in exfoliation syndrome and exfoliation glaucoma
Scientists find gene mutation linked to exfoliation syndrome, most common cause of glaucoma
Association of LOXL1 gene with Finnish exfoliation syndrome patients - PubMed
Alteration of Microfibrils in the Conjunctiva of Patients With Exfoliation Syndrome<...
Pseudoexfoliation syndrome - Wikipedia
Association of Head and Neck Region Dermatological UV-Related Cancers With Exfoliation Syndrome | PracticeUpdate
Abdominal aortic aneurysm and exfoliation syndrome in Utah. | Acta Ophthalmol;101(4): 449-456, 2023 Jun. | MEDLINE
Pseudoexfoliation Syndrome (Pseudoexfoliation Glaucoma): Background, Pathophysiology, Epidemiology
Clinical Features of Human Hyper IgE Syndrome (STAT3base) | NIH: National Institute of Allergy and Infectious Diseases
Scalded skin syndrome: MedlinePlus Medical Encyclopedia
Science Clips - Volume 7, Issue 47, December 1, 2015
Biomarkers Search
restless legs syndrome - Ontology Browser - Rat Genome Database
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What Is Pseudoexfoliation Syndrome in the Eye?
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DailyMed - CANCIDAS- caspofungin acetate injection, powder, lyophilized, for solution
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Everolimus 2.5 mg Tablets - Summary of Product Characteristics (SmPC) - (emc)
Andrea Steele, Author at The Glaucoma Foundation - Page 9 of 10
Стафілококові інфекції - Інфекційні хвороби - MSD Manual Professional Edition
HuGE Navigator|Genopedia|PHGKB
Open Day in our New Treatment Rooms on Saturday the 8th of June! - Aqua Dome Tralee
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Hypersensitivity syndrome caused by phenytoins and phenobarbital] - PubMed
Pomalyst (pomalidomide) dosing, indications, interactions, adverse effects, and more
Brahmi: "Herb of Grace" - California College of Ayurveda
Glaucoma7
- PurposeThe purpose of the study was to investigate nailfold microvascular morphology in exfoliation syndrome with or without glaucoma (XFS/XFG) compared with primary open-angle glaucoma (POAG) and control subjects using nailfold capillary videomicroscopy.Patients and methodsWe used a JH-1004 capillaroscope to perform nailfold capillary videomicroscopy on the fourth and fifth digit of the non-dominant hand. (northwestern.edu)
- The buildup of protein clumps can block normal drainage of the eye fluid called the aqueous humor and can cause, in turn, a buildup of pressure leading to glaucoma and loss of vision (pseudoexfoliation glaucoma, exfoliation glaucoma). (wikipedia.org)
- [ 2 ] Kozart and Yanoff reported that glaucoma was present in 7% of 100 consecutive patients with pseudoexfoliation syndrome in Philadelphia. (medscape.com)
- In a prospective study, Cashwell and Shields found that the prevalence of pseudoexfoliation syndrome in the southeastern United States was 1.6% of the total population and 6% of an open-angle glaucoma subpopulation. (medscape.com)
- [ 4 ] Prevalence of pseudoexfoliation syndrome in the glaucoma population of south Louisiana was found to be 2.7% in White patients and 0.4% in African American patients. (medscape.com)
- Exfoliation glaucoma (EXG) is a type of secondary glaucoma. (molvis.org)
- Mar. 28, 2023-Computational genetics tools have implicated inflammatory pathways in exfoliation syndrome, the most common cause of secondary glaucoma, which can result in blindness. (vumc.org)
Inflammation2
- The generalized inflammatory types, such as SAM syndrome or Netherton syndrome may be associated with generalized inflammation of the skin (erythroderma) or localized thickened, red plaques (erythrokeratoderma), immunodysfunction with elevated IgE levels, allergies, and susceptibility to infections, failure to thrive or metabolic wasting. (rarediseases.org)
- Chronic skin inflammation results in scaling and exfoliation, predisposing these patients to life-threatening infections, sepsis, and dehydration. (medscape.com)
Toxicities2
- 3 Of the cutaneous toxicities experienced by patients, hand-foot syndromes (HFS)-also known as palmar-plantar erythrodysesthesia, palmar-plantar erythema, acral erythema, and Burgdorf's reaction -are becoming among the most common. (oncologynurseadvisor.com)
- Although HFS and HFSR do not involve life-threatening toxicities, the syndromes have a significant impact on treatment schedules and quality of life in treated patients. (oncologynurseadvisor.com)
Iridocorneal1
- 9.4.2.1 Iridocorneal endothelial syndrome (ICE, incl. (e-igr.com)
Sepsis1
- Toxic epidermal necrolysis (TEN) is a potentially life-threatening dermatologic disorder characterized by widespread erythema, necrosis, and bullous detachment of the epidermis and mucous membranes, resulting in exfoliation and possible sepsis and/or death. (aboutface.ca)
Collagen2
Patients4
- Cutaneous and systemic infections are common and disturbing consequences in almost all patients with Netherton syndrome. (medscape.com)
- [ 7 ] Further, larger studies are necessary to elucidate the safety and efficacy of pimecrolimus in Netherton syndrome patients. (medscape.com)
- Cevimeline has been shown to improve the symptoms of dry mouth in patients with SjÖgren's Syndrome. (nih.gov)
- Cevimeline is indicated for the treatment of symptoms of dry mouth in patients with Sjögren's Syndrome. (rxlist.com)
Prevalence3
- Aims: To report the prevalence and correlates of exfoliation syndrome (XFS) in central, rural Sri Lanka. (edu.au)
- Prevalence of pseudoexfoliation syndrome in Europe was found to be 4.7% in England, 6.3% in Norway, 4% in Germany, 1.1% in Greece, and 5.5% in France. (medscape.com)
- Bartholomew reported an 8.2% prevalence of pseudoexfoliation syndrome in the Bantu tribes of South Africa. (medscape.com)
Atrophy1
- A grouping of three closely linked conditions: iris nevus (or Cogan-Reese) syndrome, Chandler Syndrome, and essential (progressive) iris atrophy. (bvsalud.org)
Long Qt Syndr1
- Do not use nilotinib in the presence of hypokalemia , hypomagnesemia , or long QT syndrome . (drugs.com)
Deposits1
- The typical white exfoliation material deposits on the surface of the lens are visible (blue arrows) with the aid of a slit lamp at 16 × magnification under white light. (jamanetwork.com)
Tissue1
- 0.99) ( Figure , panel A). RNA loads were comparatively high (median 7.0 × 10 6 copies/mL, interquartile range [IQR] 5.5 × 10 4 -5.2 × 10 7 copies/mL) ( Figure , panel B) and in some cases exceeded loads in the acute phase of the disease ( 6 ), possibly because of postmortem mucosal softening and higher exfoliation of tissue during sample collection. (cdc.gov)
Netherton3
- Netherton syndrome is a rare autosomal recessive genodermatosis characterized by congenital ichthyosiform erythroderma, an atopic diathesis, and a characteristic hair-shaft abnormality known as trichorrhexis invaginata. (medscape.com)
- Skin manifestations and associated symptoms may vary considerably among individuals with Netherton syndrome. (medscape.com)
- Emollients, keratolytics, and antibiotics are the mainstay of treatment in Netherton syndrome. (medscape.com)
Populations1
- Because of the increased mean age of populations, pseudoexfoliation syndrome may become more prevalent in the future. (medscape.com)
Congenital2
- Peeling skin syndrome belongs to the groups of congenital ichthyosis and skin fragility disorders with autosomal recessive inheritance. (rarediseases.org)
- A person with a facial difference refers to anyone whose appearance, from the neck or above, has been affected by a congenital (from birth), acquired (after birth), or episodic (comes and goes) condition or syndrome. (aboutface.ca)
Lens Capsule2
- Georgiana Dvorak-Thebold suggested the term pseudoexfoliation to differentiate it from true exfoliation or lamellar delamination of the lens capsule found in glassblowers. (medscape.com)
- True exfoliation syndrome is due to heat or infrared-related changes in the anterior lens capsule. (medscape.com)
Dispersion1
- Pigmentary dispersion syndrome. (mgoptometrist.co.nz)
Ocular1
- Pseudoexfoliation syndrome is a common ocular manifestation of a systemic disease, known to cause disease primarily in the eye. (medscape.com)
Iris2
- Scholars@Duke publication: Iris vasculopathy in exfoliation syndrome. (duke.edu)
- The most common features of this syndrome are the movement of endothelial cells off the cornea onto the iris leading to corneal swelling, distortion of the iris, and variable degrees of distortion of the pupil. (bvsalud.org)
Study2
- In this study, the burden test was designed to compare the number (or burden) of damaging genetic alterations found in each gene among persons with exfoliation syndrome vs those without exfoliation syndrome. (jamanetwork.com)
- Genetic association study of exfoliation syndrome identifies a protective rare variant at LOXL1 and five new susceptibility loci. (nccs.com.sg)
Severe1
- Deaths associated with severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) have raised concerns that contact with the corpses of deceased persons might pose a risk for transmitting infection ( 1 ). (cdc.gov)
Gene1
- Jan. 13, 2020-An international research team has discovered a new genetic syndrome caused by mutation of a single gene and named it CATIFA, an acronym for its core symptoms. (vumc.org)
Material3
- Laminin was an integral component of exfoliation material and was present mainly in the matrix of the outer surface of normal vascular cohort cells. (duke.edu)
- Exfoliation material may not be visible on unaided examination. (jamanetwork.com)
- Pseudoexfoliative syndrome (PEX) is characterized by the accumulation of fibrillary extracellular material in some organs, in the eye and out of the eye. (scirp.org)
Toxicity1
- Hand-foot syndrome is a potentially dose-limiting cutaneous toxicity. (oncologynurseadvisor.com)
Disease1
- Pseudoexfoliation syndrome, often abbreviated as PEX and sometimes as PES or PXS, is an aging-related systemic disease manifesting itself primarily in the eyes which is characterized by the accumulation of microscopic granular amyloid-like protein fibers. (wikipedia.org)
Skin3
- Peeling skin syndrome (PSS) is a group of rare inherited skin disorders in which the normal gradual process of invisible shedding of the outermost skin layers is hastened and/or aggravated. (rarediseases.org)
- PSS is characterized by painless, continual, spontaneous skin peeling (exfoliation) due to a separation of the outermost layer of the epidermis (stratum corneum) from the underlying layers. (rarediseases.org)
- Some strains elaborate toxins that cause gastroenteritis, scalded skin syndrome, and toxic shock syndrome. (merckmanuals.com)
Primary1
- The aim of this case report was to present a clinic case of a 13-year-old male, who presented delayed exfoliation of the mandibular right primary canine. (bvsalud.org)
Deciduous1
- A patient, with Papillon-Lefèvre syndrome, presented with a premature loss of both deciduous and permanent teeth and hyperkeratosis palmaris et plantaris. (nih.gov)
Results1
- Caused by the varicella-zoster virus (VZV), Ramsay Hunt Syndrome is a neurological disorder that results in facial palsy, a rash that affects the ear and/or mouth, and may also cause tinnitus and/or hearing loss. (aboutface.ca)
Features1
- This excellent clip shows many features of exfoliation syndrome. (gonioscopy.org)
Visible1
- The laminin content in the latter location was reduced in vessels in which exfoliation aggregates were not visible. (duke.edu)
Individuals1
- a Affected individuals had exfoliation syndrome and unaffected individuals did not have it. (jamanetwork.com)
Mouth1
- Evoxac (cevimeline hydrochloride) is a cholinergic agonist that works by stimulating certain nerves to increase the amount of saliva produced used to treat dry mouth in people with Sjogren's Syndrome. (rxlist.com)