A mild form of LIMITED SCLERODERMA, a multi-system disorder. Its features include symptoms of CALCINOSIS; RAYNAUD DISEASE; ESOPHAGEAL MOTILITY DISORDERS; sclerodactyly, and TELANGIECTASIS. When the defect in esophageal function is not prominent, it is known as CRST syndrome.
Permanent dilation of preexisting blood vessels (CAPILLARIES; ARTERIOLES; VENULES) creating small focal red lesions, most commonly in the skin or mucous membranes. It is characterized by the prominence of skin blood vessels, such as vascular spiders.
A characteristic symptom complex.
An idiopathic vascular disorder characterized by bilateral Raynaud phenomenon, the abrupt onset of digital paleness or CYANOSIS in response to cold exposure or stress.
A term used to describe a variety of localized asymmetrical SKIN thickening that is similar to those of SYSTEMIC SCLERODERMA but without the disease features in the multiple internal organs and BLOOD VESSELS. Lesions may be characterized as patches or plaques (morphea), bands (linear), or nodules.
INFLAMMATION of any ARTERIES.
A chronic multi-system disorder of CONNECTIVE TISSUE. It is characterized by SCLEROSIS in the SKIN, the LUNGS, the HEART, the GASTROINTESTINAL TRACT, the KIDNEYS, and the MUSCULOSKELETAL SYSTEM. Other important features include diseased small BLOOD VESSELS and AUTOANTIBODIES. The disorder is named for its most prominent feature (hard skin), and classified into subsets by the extent of skin thickening: LIMITED SCLERODERMA and DIFFUSE SCLERODERMA.
FIBROSIS of the hepatic parenchyma due to obstruction of BILE flow (CHOLESTASIS) in the intrahepatic or extrahepatic bile ducts (BILE DUCTS, INTRAHEPATIC; BILE DUCTS, EXTRAHEPATIC). Primary biliary cirrhosis involves the destruction of small intra-hepatic bile ducts and bile secretion. Secondary biliary cirrhosis is produced by prolonged obstruction of large intrahepatic or extrahepatic bile ducts from a variety of causes.
Hand-held tools or implements used by health professionals for the performance of surgical tasks.
Antibodies that react with self-antigens (AUTOANTIGENS) of the organism that produced them.

Autoantibodies to the extracellular matrix microfibrillar protein, fibrillin-1, in patients with scleroderma and other connective tissue diseases. (1/32)

A duplication in the fibrillin-1 gene has been implicated as the cause of the tight skin 1 (tsk1) phenotype, an animal model of scleroderma or systemic sclerosis (SSc). In addition to the production of abnormal fibrillin-1 protein, the tsk1 mouse also produces autoantibodies to fibrillin-1. Among a population of Choctaw Native Americans with the highest prevalence of SSc yet described, a chromosome 15q haplotype containing the fibrillin-1 gene has been strongly associated with SSc. With a recombinant human fibrillin-1 protein, autoantibodies to fibrillin-1 were detected in the sera of Native American SSc patients that correlated significantly with disease. Abs to fibrillin-1 also were detected in sera from Japanese, Caucasian, and African-American SSc patients. Compared with other ethnic groups, Japanese and Native American SSc patients had significantly higher frequencies of anti-fibrillin-1 Abs. Sera from patients with diffuse SSc, calcinosis, Raynaud's, esophageal dysmotility, sclerodactyly, and telangiectasias syndrome and mixed connective tissue disease also had significantly higher frequencies of anti-fibrillin-1 Abs than sera from controls or patients with other non-SSc connective tissue diseases (lupus, rheumatoid arthritis, and Sjogren's syndrome). Ab specificity for fibrillin-1 was demonstrated by the lack of binding to a panel of other purified autoantigens. The results presented demonstrate for the first time the presence of high levels of anti-fibrillin-1 Abs in a significant portion of patients with SSc.  (+info)

Phlebosclerosis of the colon with positive anti-centromere antibody. (2/32)

A 56-year-old woman with symptoms of chronic bowel disease presented a peculiar calcification of the mesenteric vein of the ascending to transverse colon on barium enema study. The resected colon was hard and black. Histo-pathologic examinations demonstrated fibrous change of the colon with a calcified and hyaline-deposited mesenteric vein. No cell infiltration was observed. These findings were compatible with phlebosclerosis and also with systemic sclerosis. Positive anti-centromere antibody and Raynaud's phenomenon, hallmarks of a variant systemic sclerosis, the CREST syndrome were observed. We therefore speculated that the pathogenesis of the phlebosclerosis of the colon is related to the CREST syndrome.  (+info)

The mammalian centromere: structural domains and the attenuation of chromatin modeling. (3/32)

The centromere-kinetochore complex can be divided into distinct domains based on structure and function. Previous work has used CREST auto-antibodies with various microscopic techniques to map the locations of proteins within the centromere-kinetochore complex and to analyze the maturation of prekinetochores before mitosis. Here we have focused on the centromere-specific histone Centromere Protein (CENP)-A and its spatial relationship to other histones and histone modifications found in condensed chromatin. We demonstrate that the phosphorylation of histone H3 is essentially excluded from a specific region of centromeric chromatin, defined by the presence of CENP-A. Interspersion of CENP-B with phosphorylated H3 in the inner centromere indicates that the exclusion of H3 modification is not a general property of alpha-satellite DNA. We also demonstrate that these regions are functionally distinct by fragmenting mitotic chromatin into motile centromere-kinetochore fragments that contain CENP-A with little or no phosphorylated H3 and nonmotile fragments that contain exclusively phosphorylated H3. The sequence of CENP-A diverges from H3 in a number of key residues involved in chromosome condensation and in transcription, potentially allowing a more specialized chromatin structure within centromeric heterochromatin, on which kinetochore plates may nucleate and mature. This specialized centromere subdomain would be predicted to have a very tight and static nucleosome structure as a result of the absence of H3 phosphorylation and acetylation.  (+info)

Clinical, serological and genetic study in patients with CREST syndrome. (4/32)

OBJECTIVE: To assess the clinical, serological and genetic features of Japanese patients with CREST syndrome. PATIENTS AND METHODS: Clinical features, autoantibodies and human histocompatibility leukocyte antigen (HLA) typing were studied in thirty patients with CREST syndrome, including 29 females and one male, with a mean age of 59.0 years (ranging from 40 to 76 years). RESULTS: Interstitial pneumonia on chest X-ray and renal involvement were rare. Mitral regurgitation and tricuspid regurgitation were present in 56.7% and 76.7%, respectively. Sjoren's syndrome (SS) and primary biliary cirrhosis (PBC) were highly associated, however the positivity of the marker antibodies to those syndromes, such as anti-SSA, anti-SSB, anti-mitochondrial (AMA) and anti-smooth muscle autoantibodies were less frequent than that of primary SS and PBC without the other autoimmune diseases. The histological findings of PBC were all early stages in Scheuer's classification. HLA-Cw6 were associated with CREST-PBC overlap syndrome (p<0.05). However the HLA antigen was not correlated with CREST syndrome, and the frequency of HLA-DR2 between CREST syndrome with or without PBC was significantly different (p<0.01). CONCLUSION: It was suggested that there was a genetic difference between CREST syndrome alone and CREST-PBC overlap syndrome and there were differences (the positivity of AMA and the severity of bile duct lesion) between PBC and CREST-PBC overlap syndrome.  (+info)

Autoimmune hepatitis and systemic sclerosis: a new overlap syndrome? (5/32)

OBJECTIVE: We report the cases of two patients with the complete CREST variant (calcinosis, Raynaud's phenomenon, oesophageal dysmotility, sclerodactyly, telangiectasia) of systemic sclerosis (SSc) who developed autoimmune hepatitis. RESULTS: Our findings suggest that autoimmune hepatitis can be considered to be one of the liver manifestations associated with SSc. Our data also indicate that, because liver involvement may precede skin manifestations, evaluation for SSc is appropriate when autoimmune hepatitis is noted, and that the evaluation should include clinical examination, testing for antinuclear antibodies (especially for anticentromere antibodies) and nailfold capillaroscopy. CONCLUSIONS: From a practical point of view, our two cases emphasize that suspicion of autoimmune hepatitis in SSc patients presenting with cytolytic hepatitis will help to achieve both accurate diagnosis and optimal management.  (+info)

Progressive interstitial renal fibrosis due to Chinese herbs in a patient with calcinosis Raynaud esophageal sclerodactyly telangiectasia (CREST) syndrome. (6/32)

A 58-year-old woman with calcinosis Raynaud esophageal sclerodactyly telangiectasia (CREST) syndrome presented with slowly progressive renal dysfunction. She was normotensive with normal plasma renin activity and lacking symptoms of vasculitis. Mild proteinuria was of tubular origin, but serological tests and an absence of sicca symptoms excluded the possibility of Sjogren's syndrome. Light microscopic study of renal biopsy showed interstitial fibrosis with ectasia and degeneration of proximal tubule and lymphocyte infiltration. There were no remarkable changes in the glomeruli. Chromatographic analysis of the Chinese herbs regimen that she had been taking for several years demonstrated aristolochic acid. She was diagnosed as Chinese herbs nephropathy. Therapy with oral prednisolone was markedly effective in improving renal function and anemia. To our knowledge, this is the first report of Chinese herbs nephropathy complicating connective tissue disease. It is important to consider the possibility of Chinese herbs nephropathy when patients treated with Chinese herbs develop renal dysfunction.  (+info)

Induction of kinetochore-positive and kinetochore-negative micronuclei in CHO cells by ELF magnetic fields and/or X-rays. (7/32)

To test the genotoxic effects of extremely low frequency (ELF) magnetic fields, the induction of micronuclei by exposure to ELF magnetic fields and/or X-rays was investigated in cultured Chinese hamster ovary (CHO) cells, using the cytokinesis block method. Micronuclei derived from acentric fragments or from whole chromosomes were evaluated by immunofluorescent staining using anti-kinetochore antibodies from the serum of scleroderma (CREST syndrome) patients. A 60 Hz ELF magnetic field at 5 mT field strength was applied, either before or after 1 Gy X-ray irradiation or without additional X-ray irradiation. No statistically significant difference in the frequency of micronuclei in CHO cells was observed between a sham exposure (no exposure to an ELF magnetic field) and a 24 h ELF magnetic field exposure. Exposure to an ELF magnetic field for 24 h before X-ray irradiation or for 18 h after X-ray irradiation did not affect the frequency of X-ray-induced micronuclei. However, the number of kinetochore-positive micronuclei was significantly increased in the cells subjected to X-ray irradiation followed by ELF magnetic field exposure, but not in the cells treated with ELF magnetic field exposure before X-ray irradiation, compared with exposure to X-rays alone. The number of spontaneous kinetochore-positive and kinetochore-negative micronuclei was not affected by exposure to an ELF magnetic field alone. Our data suggest that exposure to an ELF magnetic field has no effect on the number of spontaneous and X-ray-induced micronuclei. However, ELF magnetic field exposure after but not before X-ray irradiation may somehow accelerate X-ray-induced lagging of whole chromosomes (or centric fragments) in CHO cells.  (+info)

Human ninein is a centrosomal autoantigen recognized by CREST patient sera and plays a regulatory role in microtubule nucleation. (8/32)

Centrosome is the major microtubule organizing center in mammalian cells that plays a critical role in a variety of cellular events by the microtubule arrays emanating from it. Despite its significance, the molecular mechanisms underlying the structure and function of the centrosome are still not clear. Herein we describe the identification of three isotypes of human ninein by expression library screening with autoimmune sera from CREST patients. All three ninein isotypes exhibit centrosomal localization throughout the cell cycle when GFP-tagged fusion proteins are expressed transiently in mammalian cells. Construction of serial deletions of GFP-tagged ninein reveals that a stretch of three leucine zippers with a flanking sequence is required and sufficient for centrosomal targeting. Overexpression of ninein results in mislocalization of gamma-tubulin, recruiting it to ectopic (noncentrosomal) ninein-containing sites which are not active in nucleating microtubules. In these cells, nucleation of microtubules from the centrosome is also inhibited. These results thus suggest a regulatory role for ninein in microtubule nucleation.  (+info)

CREST syndrome is a subtype of a autoimmune connective tissue disorder called scleroderma (systemic sclerosis). The name "CREST" is an acronym that stands for the following five features:

* Calcinosis: The formation of calcium deposits in the skin and underlying tissues, which can cause painful ulcers.
* Raynaud's phenomenon: A condition in which the blood vessels in the fingers and toes constrict in response to cold or stress, causing the digits to turn white or blue and become numb or painful.
* Esophageal dysmotility: Difficulty swallowing due to weakened muscles in the esophagus.
* Sclerodactyly: Thickening and tightening of the skin on the fingers.
* Telangiectasias: Dilated blood vessels near the surface of the skin, causing red spots or lines.

It's important to note that not everyone with CREST syndrome will have all five of these features, and some people may have additional symptoms not included in the acronym. Additionally, CREST syndrome is a chronic condition that can cause a range of complications, including lung fibrosis, kidney problems, and digital ulcers. Treatment typically focuses on managing specific symptoms and slowing the progression of the disease.

Telangiectasia is a medical term that refers to the dilation and widening of small blood vessels called capillaries, leading to their visibility under the skin or mucous membranes. These dilated vessels often appear as tiny red lines or patterns, measuring less than 1 millimeter in diameter.

Telangiectasias can occur in various parts of the body, such as the face, nose, cheeks, legs, and fingers. They are typically harmless but may cause cosmetic concerns for some individuals. In certain cases, telangiectasias can be a sign of an underlying medical condition, like rosacea, hereditary hemorrhagic telangiectasia (HHT), or liver disease.

It is essential to consult with a healthcare professional if you notice any unusual changes in your skin or mucous membranes, as they can provide appropriate evaluation and treatment recommendations based on the underlying cause of the telangiectasias.

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.

Raynaud's disease, also known as Raynaud's phenomenon or syndrome, is a condition that affects the blood vessels, particularly in the fingers and toes. It is characterized by episodes of vasospasm (constriction) of the small digital arteries and arterioles, which can be triggered by cold temperatures or emotional stress. This results in reduced blood flow to the affected areas, causing them to become pale or white and then cyanotic (blue) due to the accumulation of deoxygenated blood. As the episode resolves, the affected areas may turn red as blood flow returns, sometimes accompanied by pain, numbness, or tingling sensations.

Raynaud's disease can be primary, meaning it occurs without an underlying medical condition, or secondary, which is associated with connective tissue disorders, autoimmune diseases, or other health issues such as carpal tunnel syndrome, vibration tool usage, or smoking. Primary Raynaud's is more common and tends to be less severe than secondary Raynaud's.

Treatment for Raynaud's disease typically involves avoiding triggers, keeping the body warm, and using medications to help dilate blood vessels and improve circulation. In some cases, lifestyle modifications and smoking cessation may also be recommended to manage symptoms and prevent progression of the condition.

Localized scleroderma, also known as morphea, is a rare autoimmune disorder that affects the skin and connective tissues. It is characterized by thickening and hardening (sclerosis) of the skin in patches or bands, usually on the trunk, limbs, or face. Unlike systemic scleroderma, localized scleroderma does not affect internal organs, although it can cause significant disfigurement and disability in some cases.

There are two main types of localized scleroderma: plaque morphea and generalized morphea. Plaque morphea typically presents as oval or circular patches of thickened, hard skin that are often white or pale in the center and surrounded by a purple or darker border. Generalized morphea, on the other hand, is characterized by larger areas of sclerosis that can cover much of the body surface.

The exact cause of localized scleroderma is not fully understood, but it is thought to involve an overactive immune system response that leads to inflammation and scarring of the skin and underlying tissues. Treatment typically involves a combination of topical therapies (such as corticosteroids or calcineurin inhibitors), phototherapy, and systemic medications (such as methotrexate or mycophenolate mofetil) in more severe cases.

Arteritis is a medical condition characterized by inflammation of the arteries. It is also known as vasculitis of the arteries. The inflammation can cause the walls of the arteries to thicken and narrow, reducing blood flow to affected organs or tissues. There are several types of arteritis, including:

1. Giant cell arteritis (GCA): Also known as temporal arteritis, it is a condition that mainly affects the large and medium-sized arteries in the head and neck. The inflammation can cause headaches, jaw pain, scalp tenderness, and vision problems.
2. Takayasu's arteritis: This type of arteritis affects the aorta and its major branches, mainly affecting young women. Symptoms include fever, weight loss, fatigue, and decreased pulse in the arms or legs.
3. Polyarteritis nodosa (PAN): PAN is a rare systemic vasculitis that can affect medium-sized arteries throughout the body. It can cause a wide range of symptoms, including fever, rash, abdominal pain, and muscle weakness.
4. Kawasaki disease: This is a type of arteritis that mainly affects children under the age of 5. It causes inflammation in the blood vessels throughout the body, leading to fever, rash, swollen lymph nodes, and red eyes.

The exact cause of arteritis is not fully understood, but it is believed to be an autoimmune disorder, where the body's immune system mistakenly attacks its own tissues. Treatment for arteritis typically involves medications to reduce inflammation and suppress the immune system.

Systemic Scleroderma, also known as Systemic Sclerosis (SSc), is a rare, chronic autoimmune disease that involves the abnormal growth and accumulation of collagen in various connective tissues, blood vessels, and organs throughout the body. This excessive collagen production leads to fibrosis or scarring, which can cause thickening, hardening, and tightening of the skin and damage to internal organs such as the heart, lungs, kidneys, and gastrointestinal tract.

Systemic Scleroderma is characterized by two main features: small blood vessel abnormalities (Raynaud's phenomenon) and fibrosis. The disease can be further classified into two subsets based on the extent of skin involvement: limited cutaneous systemic sclerosis (lcSSc) and diffuse cutaneous systemic sclerosis (dcSSc).

Limited cutaneous systemic sclerosis affects the skin distally, typically involving fingers, hands, forearms, feet, lower legs, and face. It is often associated with Raynaud's phenomenon, calcinosis, telangiectasias, and pulmonary arterial hypertension.

Diffuse cutaneous systemic sclerosis involves more extensive skin thickening and fibrosis that spreads proximally to affect the trunk, upper arms, thighs, and face. It is commonly associated with internal organ involvement, such as interstitial lung disease, heart disease, and kidney problems.

The exact cause of Systemic Scleroderma remains unknown; however, it is believed that genetic, environmental, and immunological factors contribute to its development. There is currently no cure for Systemic Scleroderma, but various treatments can help manage symptoms, slow disease progression, and improve quality of life.

Biliary cirrhosis is a specific type of liver cirrhosis that results from chronic inflammation and scarring of the bile ducts, leading to impaired bile flow, liver damage, and fibrosis. It can be further classified into primary biliary cholangitis (PBC) and secondary biliary cirrhosis. PBC is an autoimmune disease, while secondary biliary cirrhosis is often associated with chronic gallstones, biliary tract obstruction, or recurrent pyogenic cholangitis. Symptoms may include fatigue, itching, jaundice, and abdominal discomfort. Diagnosis typically involves blood tests, imaging studies, and sometimes liver biopsy. Treatment focuses on managing symptoms, slowing disease progression, and preventing complications.

Surgical instruments are specialized tools or devices that are used by medical professionals during surgical procedures to assist in various tasks such as cutting, dissecting, grasping, holding, retracting, clamping, and suturing body tissues. These instruments are designed to be safe, precise, and effective, with a variety of shapes, sizes, and materials used depending on the specific surgical application. Some common examples of surgical instruments include scalpels, forceps, scissors, hemostats, retractors, and needle holders. Proper sterilization and maintenance of these instruments are crucial to ensure patient safety and prevent infection.

Autoantibodies are defined as antibodies that are produced by the immune system and target the body's own cells, tissues, or organs. These antibodies mistakenly identify certain proteins or molecules in the body as foreign invaders and attack them, leading to an autoimmune response. Autoantibodies can be found in various autoimmune diseases such as rheumatoid arthritis, lupus, and thyroiditis. The presence of autoantibodies can also be used as a diagnostic marker for certain conditions.

"CREST syndrome: MedlinePlus Medical Encyclopedia Image". medlineplus.gov. "CREST syndrome - Genetic and Rare Diseases ... CREST syndrome can be noted in up to 10% of patients with primary biliary cholangitis. The combination of symptoms was first ... CREST syndrome, also known as the limited cutaneous form of systemic sclerosis (lcSSc), is a multisystem connective tissue ... Other symptoms of CREST syndrome can be exhaustion, weakness, difficulties with breathing, pain in hands and feet, dizziness ...
... is one component of the limited cutaneous form of systemic sclerosis (lcSSc), also known as CREST syndrome (CREST ... "CREST syndrome: MedlinePlus Medical Encyclopedia Image". medlineplus.gov. Retrieved 2022-08-12. Patrizi, A.; Di Lernia, V.; ... Sclerodactyly is also one component of Huriez Syndrome, along with palmoplantar keratoderma and skin cancer. Sclerodactyly ... Patrone, P. (May 1992). "Palmoplantar keratoderma with sclerodactyly (Huriez syndrome)". Journal of the American Academy of ...
This may be the case in the CREST syndrome, of which Raynaud's is a part.[citation needed] Patients with secondary Raynaud's ... Anti-centromere antibodies are common in limited systemic sclerosis (CREST syndrome). Nail fold vasculature (capillaroscopy) ... Raynaud syndrome, also known as Raynaud's phenomenon, is a medical condition in which the spasm of small arteries causes ... The prognosis of primary Raynaud syndrome is often very favorable, with no mortality and little morbidity. However, a minority ...
... but is also seen the more limited form of systemic scleroderma called CREST syndrome. However, CREST syndrome is more closely ...
Calcinosis, Raynaud's phenomenon, Esophageal dysfunction, Sclerodactyly, and Telangiectasia (CREST syndrome) are associated ...
"Cranial neural crest ablation of Jagged1 recapitulates the craniofacial phenotype of Alagille syndrome patients". Hum. Mol. ... GeneReviews/NCBI/UW/NIH entry on Alagille syndrome OMIM entries on Alagille syndrome JAG1+protein,+human at the U.S. National ... McCright B, Lozier J, Gridley T (2002). "A mouse model of Alagille syndrome: Notch2 as a genetic modifier of Jag1 ... Notch signaling Alagille syndrome Autosomal dominant Haploinsufficiency Tetralogy of fallot In situ hybridization Conditional ...
Application to posterior iliac crest harvest and entrapment syndromes". Journal of Neurosurgery: Spine. 13 (3): 356-359. doi: ... Dysfunction of the superior cluneal nerves is often due to entrapment as the nerves cross the iliac crest - this can result in ... The nerves terminate over the gluteal fascia distal to the iliac crest.[citation needed] Damage to the cluneal nerves can be ... The nerves then pass through an osteofibrous tunnel created by the thoracolumbar fascia and rim of the superior iliac crest. ...
In addition, calcinosis is seen in Limited Cutaneous Systemic Sclerosis, also known as CREST syndrome (the "C" in CREST). In ... "CREST syndrome: MedlinePlus Medical Encyclopedia Image". medlineplus.gov. Retrieved 2023-02-12. James, William D.; Berger, ... Calcinosis cutis in a dog with Cushing's syndrome Histopathology of calcinosis cutis in human tissue Calcinosis List of ...
Ravassard P, Côté F, Grondin B, Bazinet M, Mallet J, Aubry M (2000). "ZNF74, a gene deleted in DiGeorge syndrome, is expressed ... in human neural crest-derived tissues and foregut endoderm epithelia". Genomics. 62 (1): 82-5. doi:10.1006/geno.1999.5982. PMID ... "Isolation of a zinc finger gene consistently deleted in DiGeorge syndrome". Hum. Mol. Genet. 2 (10): 1583-7. doi:10.1093/hmg/ ...
"Livedo Reticularis and Bowel Ischemia after Carbon Dioxide Arteriography in a Patient with CREST Syndrome". Journal of Vascular ... "Polymerase ε1 mutation in a human syndrome with facial dysmorphism, immunodeficiency, livedo, and short stature ('FILS syndrome ... Kazmier F, Sheps S, Bernatz P, Sayre G (1966). "Livedo reticularis and digital infarcts: a syndrome due to cholesterol emboli ... Daneshpazhooh M, Nazemi TM, Bigdeloo L, Yoosefi M (2007). "Mucocutaneous findings in 100 children with Down syndrome". Pediatr ...
Pulmonary veno-occlusive disease This condition has been reported in patients with Ehlers Danlos syndrome, CREST syndrome and ... Pulmonary capillary hemangiomatosis associated with CREST syndrome: A challenge of diagnosis and treatment. Chin Med J (Engl) ... Chest 151(4):821-828 Park MA, Shin SY, Kim YJ, Park MJ, Lee SH (2017) Vascular Ehlers-Danlos syndrome with cryptorchidism, ... Reactive pulmonary capillary hemangiomatosis and pulmonary veno-acclusive disease in a patient with repaired scimitar syndrome ...
... mutations in PACS1 cause defective cranial-neural-crest migration and define a recognizable intellectual-disability syndrome". ... colloquially called PACS1 Syndrome) that is characterized by global developmental delay, intellectual disability, and specific ...
Anti-centromere antibodies are associated with limited cutaneous systemic sclerosis, also known as CREST syndrome, primary ... In Sjögren's syndrome, anti-Ro and anti-La antibodies correlate with early onset, increased disease duration, parotid gland ... The presence of both antibodies is found in 30-60% of Sjögren's syndrome, anti-Ro antibodies alone are found in 50-70% of ... Anti-La antibodies are also found in SLE; however, Sjögren's syndrome is normally also present. Anti-Ro antibodies are also ...
... retiring in 1987 after being diagnosed with CREST syndrome. After that, she was invited to several AAGPBL Players Association ...
"Autosomal-recessive neural crest syndrome with albinism, black lock, cell migration disorder of the neurocytes of the gut, and ... This helped them distinguish forms of Waardenburg syndrome. Their evaluation consisted of specifying Waardenburg syndrome type ... Mallory, Susan B. (2006). "ABCD Syndrome". An Illustrated Dictionary of Dermatologic Syndromes (2nd ed.). Taylor & Francis. ... According to a dictionary of dermatologic syndromes, Waardenburg syndrome has many notable features, including "depigmentation ...
CREST syndrome,: p. 359 diabetes mellitus, alcohol use disorder, uremia, and chronic obstructive pulmonary disease.: p. 22 Some ...
... include neural crest disorders such as piebaldism, Waardenburg syndrome, or other depigmentation conditions such as vitiligo. ... are largely responsible for generating skin and eye colour in poikilothermic animals and are generated in the neural crest ...
They occur in some autoimmune diseases, frequently in limited systemic scleroderma (formerly called CREST syndrome), and ...
... is often associated with an IgA or IgG lambda limited plasma cell dysfunction. On iliac crest biopsies, patients ... POEMS syndrome (also termed osteosclerotic myeloma, Crow-Fukase syndrome, Takatsuki disease, or PEP syndrome) is a rare ... Some features have been observed in patients with POEMS syndrome but are not yet certain to form part of the syndrome itself. ... affected by POEMS syndrome. The diagnosis of POEMS syndrome is based on meeting its two mandatory criteria, meeting at least ...
Because the traits commonly affected by domestication syndrome are all derived from NCC in development, the neural crest ... The Neural Crest Hypothesis relates adrenal gland function to deficits in neural crest cells during development. The Single ... Domestication syndrome is a term often used to describe the suite of phenotypic traits arising during domestication that ... Neural crest cells (NCC) are vertebrate embryonic stem cells that function directly and indirectly during early embryogenesis ...
Wilkins, Adam S; Wrangham, Richard W; Fitch, W Tecumseh (2014-07-01). "The "Domestication Syndrome" in Mammals: A Unified ... proposed that the common origin of these changes lay in neural crest cells, exclusive stem cells of vertebrates that migrate to ... syndromes, disorders and illnesses presumed absent in robust humans. Of course, these specific views are very clearly based on ... another research team from the University of Barcelona discovered that the BAZ1B gene controls the behavior of neural crest ...
... are one of the features of the acronymically named CREST syndrome, a form of systemic scleroderma. The syndrome recognises the ... Osler-Weber-Rendu syndrome) Ataxia-telangiectasia Sturge-Weber syndrome, a nevus formation in the skin supplied by the ... Klippel-Trenaunay syndrome Maffucci syndrome (multiple enchondromas and hemangiomas) Hereditary hemorrhagic telangiectasia ( ... Tempi syndrome Tobacco smoking Cutaneous collagenous vasculopathy Before any treatment of leg telangectasia (spider veins) is ...
... may be a result of CREST syndrome, referring to the five main features: calcinosis, Raynaud ... CREST syndrome, or achalasia). The most common form of dysphagia is achalasia, which is caused by degeneration of the nerves in ... a syndrome mimicking hereditary hemorrhagic telangiectasia". Bulletin of the Johns Hopkins Hospital 114: 31-83. PMID 14171636. ... syndrome, esophageal dysmotility, sclerodactyly and telangiectasia. Symptoms of EMD can include chest pain, and intermittent ...
The syndrome is caused by mutations in any of several genes that affect the division and migration of neural crest cells during ... Chédiak-Higashi syndrome, a similar syndrome including immunodeficiency and peripheral neuropathy Tietz syndrome, a condition ... Lethal white syndrome is a syndrome in horses caused by mutations in both copies of EDNRB. It leads to death from intestinal ... Also known as Shah-Waardenburg syndrome, or Waardenburg-Shah syndrome, type 4 has most of the same features as type 2 (i.e. no ...
... syndrome is the suite of phenotypic traits arising during domestication that distinguish crops from their wild ... docility in mammals and birds results partly from a slowed pace of neural crest development, that would in turn cause a reduced ... The theory was unable to explain curly tails nor domestication syndrome exhibited by plants. A side effect of domestication has ... Wilkins, Adam S.; Wrangham, Richard W.; Fitch, W. Tecumseh (July 2014). "The 'Domestication Syndrome' in Mammals: A Unified ...
One form of the condition, known as CREST syndrome, classically results in calcium deposits, Raynaud's syndrome, esophageal ... causing a limited systemic form and the CREST syndrome). Other autoantibodies can be seen, such as anti-U3 or anti-RNA ... Eosinophilia-myalgia syndrome is a form of eosinophilia caused by L-tryptophan supplements. Eosinophilic fasciitis affects the ... Atrophoderma of Pasini and Pierini Pansclerotic morphea Morphea profunda Linear scleroderma Systemic scleroderma CREST syndrome ...
Sclerosis of the esophagus, such as with systemic sclerosis or in CREST syndrome may cause hardening of the walls of the ... Half of these cases may be part of a syndrome where other abnormalities are also present, particularly of the heart or limbs. ... Strictures may also develop in chronic anemia, and Plummer-Vinson syndrome. Two of the most common congenital malformations ...
Crest • Crossbite • Crouzon syndrome • Crown-to-root ratio • Crown • Crown • Crown lengthening • Crunchiness • Curve of spee • ... Frey's syndrome • Fungiform papilla G. Walter Dittmar • Gardner's syndrome • Gargling • Gaspard Fauteux • Gene Derricotte • ... Tariq Faraj E. Lloyd Du Brul • Eagle syndrome • Early childhood caries • Eastman Kodak • Ed Lafitte • Eco-friendly dentistry • ... Peutz-Jeghers syndrome • Piercing • Phil Samis • Philip A. Traynor • Philip Blaiberg • Philtrum • Pierre Corbeil • Pierre ...
... see also CREST syndrome) Calciphylaxis Calculi Calderon-Gonzalez-Cantu syndrome Calloso genital dysplasia Callus disease ... CCA syndrome Ccge syndrome CCHS CDG syndrome CDG syndrome type 1A CDG syndrome type 1B CDG syndrome type 1C CDG syndrome type 2 ... syndrome Coffin-Siris syndrome COFS syndrome Cogan-Reese syndrome Cogan syndrome Cohen-Gibson syndrome Cohen-Hayden syndrome ... syndrome type 1 Cockayne syndrome type 2 Cockayne syndrome type 3 Cockayne's syndrome CODAS syndrome Codesette syndrome Coeliac ...
... of cases of the more limited form of systemic scleroderma called CREST syndrome. Anti Scl-70 antibodies are associated with ...
"CREST syndrome: MedlinePlus Medical Encyclopedia Image". medlineplus.gov. "CREST syndrome - Genetic and Rare Diseases ... CREST syndrome can be noted in up to 10% of patients with primary biliary cholangitis. The combination of symptoms was first ... CREST syndrome, also known as the limited cutaneous form of systemic sclerosis (lcSSc), is a multisystem connective tissue ... Other symptoms of CREST syndrome can be exhaustion, weakness, difficulties with breathing, pain in hands and feet, dizziness ...
Learn and reinforce your understanding of Limited systemic sclerosis (CREST syndrome). ... CREST syndrome) Videos, Flashcards, High Yield Notes, & Practice Questions. ... CREST syndrome, also known as limited cutaneous systemic sclerosis, is an autoimmune condition, and its name is an acronym that ... CREST syndrome, also known as the limited cutaneous form of systemic sclerosis is a multisystem connective tissue disorder. The ...
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In 1910, Thibierge and Weissenbach described the first case report of what was later called CRST (calc... ... syndrome is a member of the heterogeneous group of sclerodermas, and its name is an acronym for the cardinal clinical features ... CREST (calcinosis, Raynaud phenomenon, esophageal dysmotility, sclerodactyly, and telangiectasia) ... encoded search term (CREST Syndrome) and CREST Syndrome What to Read Next on Medscape ...
quot;CREST" refers to: Calcinosis, Raynaud's Phenomenon, Esophageal Dysmotility, Sclerodactyly, and Telangiectasia. It ... CREST refers to: Calcinosis, Raynauds Phenomenon, Esophageal Dysmotility, Sclerodactyly, and Telangiectasia. It is also known ... "CREST" refers to: Calcinosis, Raynauds Phenomenon, Esophageal Dysmotility, Sclerodactyly, and Telangiectasia. It is also known ...
Hardening of the skin in a particular region is termed as CREST syndrome. ... CREST Syndrome - What is?, Pictures, Symptoms, Treatment, Diagnosis. ... Causes of CREST Syndrome. It assumed that CREST syndrome is developed due to an autoimmune disorder, means the immune system of ... CREST Syndrome Treatment. CREST syndrome is incurable condition, the available treatment options help to reduce the symptomatic ...
Lupus and CREST syndrome are both autoimmune disorders. Getting an accurate diagnosis can be difficult because of overlapping ... CREST syndrome causes. The exact causes of lupus and CREST syndrome are unknown. Doctors believe a combination of factors can ... CREST syndrome risk factors. Risk factors for CREST syndrome include:1,5 ... CREST syndrome symptoms. Every person with scleroderma is different and has a different pattern of symptoms. People with CREST ...
CREST Syndrome * 2002331864-overview. Diseases & Conditions Scleroderma * 2002374383-overview. Diseases & Conditions ...
There are two main types, limited disease (CREST syndrome) and diffuse disease. ... Progressive systemic sclerosis; Systemic sclerosis; Limited scleroderma; CREST syndrome; Localized scleroderma; Morphea - ... These cases are referred to as undifferentiated connective tissue disease or overlap syndrome. ...
CREST Syndrome * 2003/viewarticle/980275. Problem-Based Learning: Diagnosing and Managing Neurotrophic Keratitis 0.5 CME ... Kobak S, Oksel F, Aksu K, Kabasakal Y. The frequency of sicca symptoms and Sjögrens syndrome in patients with systemic ...
CREST syndrome (calcinosis, Raynaud phenomenon, esophageal dysmotility, sclerodactyly, and telangiectasias-although not all are ... Kobak S, Oksel F, Aksu K, Kabasakal Y. The frequency of sicca symptoms and Sjögrens syndrome in patients with systemic ... Women demonstrated a significantly higher percentage of sicca syndrome, serum antinuclear antibodies, antiextractable nuclear ... needed for the disorder to be called CREST) is an older term used to describe this subset of limited cutaneous systemic ...
D. CREST syndrome. Learnings Learn more about hereditary hemorrhagic telangiectasia on the VisualDx site: Click here now. ...
Overlap syndromes or CREST syndrome are suggested when pulmonary hypertension is out of proportion to the degree of fibrosis. ... scleroderma overlap the following syndromes [14] :. * CREST syndrome (calcinosis, Raynaud phenomenon, esophageal dysmotility, ... The stiff skin syndrome: case series, differential diagnosis of the stiff skin phenotype, and review of the literature. Arch ...
Altogether, these results suggest that Col2a1a is a downstream target of RA in the cranial neural crest and is required for ... We investigated the role of Col2a1a in neural crest migration and differentiation during early zebrafish eye development. In ... Col2a1a colocalized with Foxd3- and Sox10-positive cells in the anterior segment and neural crest-derived jaw. Col2a1a ... Furthermore, MO knockdown of Col2a1a delayed jaw formation and disrupted the ocular anterior segment neural crest migration of ...
A Case of Medial Tibial Crest Friction Syndrome: A Rare Cause of Medial Knee Pain. Johnson, Wade O.; Johnson, Adam C.; Payne, ...
CREST Syndrome / diagnosis * CREST Syndrome / etiology * Humans * Liver Cirrhosis, Biliary / complications* * Liver Cirrhosis, ... Keywords: CREST disease; Dermatological diseases; Extrahepatic autoimmune conditions; Primary biliary cholangitis; Primary ...
Limited sclerosis (CREST syndrome). Healthcare providers usually refer to limited scleroderma with the acronym CREST syndrome. ... You may have any CREST syndrome symptoms but not experience any thickened skin. ... People with scleroderma are much more likely to have two other conditions: Raynauds syndrome and Sjögrens syndrome. ... Sjögrens syndrome makes your body produce less moisture in certain glands - usually the salivary glands in your mouth and the ...
Limited scleroderma is sometimes called CREST syndrome. CREST stands for the initial letters of five common features:. * ... people with diffuse disease will go on to develop calcinosis and telangiectasias so that they also have the features of CREST. ...
Limited Scleroderma (also called CREST Syndrome). Limited scleroderma is a progressive disorder. It is classified as a systemic ... Hereditary hemorrhagic telangiectasia (a very rare condition that may have skin changes similar to CREST syndrome) ... a particular danger with the CREST syndrome). Pulmonary hypertension is high blood pressure in the lungs (see the Lung ... CREST syndrome - InDepth; Morphea - linear - InDepth; Raynauds phenomenon - scleroderma - InDepth ...
CREST syndrome (calcinosis, raynauds phenomenon, esophageal problems, sclerodactyly, telangiectasias);. - nucleolar: ... medication induced lupus like syndrome (procainamide);. - scleroderma. - RA. - Sjogrens syndrome. - polymyositis. - false ...
POLR1B and neural crest cell anomalies in Treacher Collins syndrome type 4. ... EGR2 mutation enhances phenotype spectrum of Dejerine-Sottas syndrome. Gargaun E, Seferian AM, Cardas R, Le Moing AG, Delanoe C ... Nonlethal CHRNA1-Related Congenital Myasthenic Syndrome with a Homozygous Null Mutation. Neto OA, Heise CO, Moreno CDM, ... dUTPase (DUT) Is Mutated in a Novel Monogenic Syndrome With Diabetes and Bone Marrow Failure. ...
Crest syndrome and renal involvement. Tarçın Ö, Ozcivan M. Aydın H. Tiftikci A.Marmara Medical Journal. 2007, 20 (3):186-189 ...
Systemic sclerosis is known as scleroderma or progressive systemic sclerosis, or CREST syndrome. ...
Scleroderma or CREST syndrome is a chronic, auto immune disease which manifests as thick, dry, fibrous skin. Scleroderma/CREST ... Parry-Romberg Syndrome. Parry-Romberg syndrome (PRS) is a rare condition in which there is progressive hemifacial atrophy. ... a professor in the Institute of Genetic Medicine and director of the Smilow Center for Marfan Syndrome Research at Johns ... much rarer condition called stiff skin syndrome (SSS), which does run in families, and they suspected that learning more about ...
54 with CREST syndrome (calcinosis, Raynauds phenomenon, esophageal dysmotility, sclerodactyly, telangiectasias), without ... Anti-topo I and ACA were found primarily in patients with scleroderma, CREST syndrome, and Raynauds phenomenon. ACA identified ... 54 with CREST syndrome (calcinosis, Raynauds phenomenon, esophageal dysmotility, sclerodactyly, telangiectasias), without ...
Embryology of the neural crest: its inductive role in the neurocutaneous syndromes. J Child Neurol 2005; 20 (8) 637-643 ...
CREST syndrome. Condition. Osgood-schlatter disease. Condition. Osteochondritis dissecans. Condition. Rheumatic fever. ...
Scleroderma/CREST syndrome. *Spinal stenosis. *Systemic lupus erythematosus and other collagen vascular diseases ...
Limited scleroderma, sometimes referred to as CREST syndrome, affects the face, hands and feet. Limited scleroderma develops ...
  • CREST syndrome is associated with detectable antibodies against centromeres (a component of the cell nucleus), and usually spares the kidneys (a feature more common in the related condition systemic scleroderma). (wikipedia.org)
  • Because it was designed for research applications and not for clinical diagnosis, it has been criticized for its low sensitivity in identifying early disease and milder forms of systemic scleroderma such as CREST syndrome. (medscape.com)
  • Several authors recognized this limitation and responded by categorizing patients with scleroderma syndromes into 2 groups: those with diffuse cutaneous scleroderma and those with a limited form of scleroderma. (medscape.com)
  • Pure"CREST - it means when the diagnostic reports reveled that patient have two or more than two symptoms of CREST and not associated with diffuse scleroderma or other autoimmune disease. (syndromespedia.com)
  • Plus CREST - It means when the patient has CREST syndrome along with another form of scleroderma, including diffuse scleroderma or other types of autoimmune disease symptoms. (syndromespedia.com)
  • 1 CREST syndrome is a type of scleroderma called limited scleroderma. (lupus.net)
  • Healthcare providers usually refer to limited scleroderma with the acronym CREST syndrome. (clevelandclinic.org)
  • Limited scleroderma is sometimes called CREST syndrome. (scleroderma.org)
  • Systemic sclerosis is known as scleroderma or progressive systemic sclerosis, or CREST syndrome. (selfgrowth.com)
  • Scleroderma or CREST syndrome is a chronic, auto immune disease which manifests as thick, dry, fibrous skin. (medindia.net)
  • Scleroderma/CREST syndrome is classified as rheumatic and connective tissue disease. (medindia.net)
  • Anti-topo I and ACA were found primarily in patients with scleroderma, CREST syndrome, and Raynaud's phenomenon. (nih.gov)
  • Limited scleroderma, sometimes referred to as CREST syndrome, affects the face, hands and feet. (uwhealth.org)
  • People with this type of scleroderma often have CREST syndrome. (adam.com)
  • CREST syndrome (calcinosis, Raynaud phenomenon, esophageal dysmotility, sclerodactyly, and telangiectasias) refers to a subset of patients with limited scleroderma. (logicalimages.com)
  • The systemic sclerosis overlap syndrome is characterized by features of one of the scleroderma subsets with those of another autoimmune disease (eg, lupus erythematosus , dermatomyositis , Sjögren syndrome , and/or rheumatoid arthritis ). (logicalimages.com)
  • The association of the limited cutaneous form of systemic scleroderma (lcSSc) and PBC is known as Reynolds syndrome. (journalmc.org)
  • CREST syndrome, also known as the limited cutaneous form of systemic sclerosis (lcSSc), is a multisystem connective tissue disorder. (wikipedia.org)
  • CREST syndrome , also known as limited cutaneous systemic sclerosis , is an autoimmune condition, and its name is an acronym that stands for calcinosis, Raynaud's phenomenon, esophageal dysmotility, sclerodactyly, and telangiectasias. (osmosis.org)
  • CREST syndrome (calcinosis, Raynaud phenomenon, esophageal dysmotility, sclerodactyly, and telangiectasias-although not all are needed for the disorder to be called CREST) is an older term used to describe this subset of limited cutaneous systemic sclerosis. (medscape.com)
  • Until now we've had little insight and no effective treatment strategies for systemic sclerosis, and many patients die within a year of diagnosis," says Hal Dietz, a professor in the Institute of Genetic Medicine and director of the Smilow Center for Marfan Syndrome Research at Johns Hopkins. (medindia.net)
  • But Dietz's group was struck by the similarities between systemic sclerosis and a less severe, much rarer condition called stiff skin syndrome (SSS), which does run in families, and they suspected that learning more about SSS would also shed light on systemic sclerosis. (medindia.net)
  • Subsequent studies confirmed that anti-centromere antibodies (ACA) were most often found in patients with a limited form of systemic sclerosis previously referred to as CREST syndrome. (arodia.com)
  • These autoantibodies are also often detected in sera from patients with Raynaud's phenomenon and occasionally in other rheumatic diseases such as systemic lupus erythematosus, Sjögren's syndrome, and rheumatoid arthritis. (arodia.com)
  • The association between PBC and other autoimmune conditions, such as Sjögren's syndrome, rheumatoid arthritis, Hashimoto's thyroiditis or systemic sclerosis occurs in 84% of cases [ 1 , 2 , 6 - 10 ]. (journalmc.org)
  • In generalized systemic sclerosis with diffuse skin involvement, patients have Raynaud syndrome and gastrointestinal (GI) complications. (msdmanuals.com)
  • Introduction: CREST syndrome is a clinical entity associated with systemic sclerosis, which meets at least three of the five clinical features: calcinosis, Raynaud's phenomenon, esophageal dysmotility, sclerodactyly, and telangiectasia. (bvsalud.org)
  • Raynaud's phenomenon is frequently the first manifestation of CREST/lcSSc, preceding other symptoms by years. (wikipedia.org)
  • Three of these clinical features (Raynaud's phenomenon, sclerodactyly and esophageal dysmotility) are often present in classical subsets of SSc: limited and diffuse, and their presence in association does not define CREST syndrome. (bvsalud.org)
  • CREST ( calcinosis , Raynaud phenomenon , esophageal dysmotility , sclerodactyly, and telangiectasia) syndrome is a member of the heterogeneous group of sclerodermas , and its name is an acronym for the cardinal clinical features of the syndrome. (medscape.com)
  • In 1910, Thibierge and Weissenbach described the first case report of what was later called CRST (calcinosis cutis, Raynaud phenomenon, sclerodactyly, and telangiectasia) syndrome in English by Winterbauer who, in 1964, described a series of 8 patients with the features that make up the abbreviation CRST. (medscape.com)
  • To further complicate the terminology, some people with diffuse disease will go on to develop calcinosis and telangiectasias so that they also have the features of CREST. (scleroderma.org)
  • Calcinosis seems to be less common in SSc and its association with other clinical features is characteristic of CREST syndrome. (bvsalud.org)
  • Therefore, it can be appreciated that calcinosis is the key element of CREST syndrome. (bvsalud.org)
  • Many cutaneous disorders experienced by patients undergoing dialysis have little to do with the uremic syndrome and are related to the same underlying pathologic process that caused the renal disease. (medscape.com)
  • There are two main types, limited disease (CREST syndrome) and diffuse disease. (medlineplus.gov)
  • We investigated the role of Col2a1a in neural crest migration and differentiation during early zebrafish eye development. (mdpi.com)
  • Embryology of the neural crest: its inductive role in the neurocutaneous syndromes. (thieme-connect.com)
  • Our analysis will unequivocally determine the in vitro and in vivo fates of hES cell-derived cells with the neural crest cell markers present in our cultures. (ca.gov)
  • If our hypothesis is correct, hES cell-derived neural precursors will be a rich source for neural crest cells, thus allowing for the first time the extensive characterization of these rare human cells and the development of strategies of NC cell-based protocols in clinics. (ca.gov)
  • Abnormalities in neural crest (NC) cells involved in numerous human pathologies including various skeletal syndromes (e.g. (ca.gov)
  • [ 4 ] noted the frequent occurrence of esophageal dysmotility and suggested that the acronym CREST may be more appropriate. (medscape.com)
  • 2 CREST is an acronym for symptoms of the disease. (lupus.net)
  • Family history has the presence of an autoimmune disease, including rheumatoid arthritis, lupus, or Hashimoto's disease, the chance of the development of CREST syndrome is more due to genetic involvement. (syndromespedia.com)
  • [ 2 , 3 ] Although he noted esophageal dysmotility in 4 of 8 patients, he did not include this feature in his original description of CRST syndrome. (medscape.com)
  • The overlap of lcSSc and PBC is known as Reynolds syndrome, after the lead author of an article published in 1971 [ 11 ]. (journalmc.org)
  • Common symptoms include Raynaud syndrome, polyarthralgia, dysphagia, heartburn, and swelling and eventually skin tightening and contractures of the fingers. (msdmanuals.com)
  • CREST is not easily diagnosed as it closely mimics symptoms of other connective tissue and autoimmune diseases. (wikipedia.org)
  • These cases are referred to as undifferentiated connective tissue disease or overlap syndrome. (medlineplus.gov)
  • In CREST syndrome, the collagen synthesis in increased due to influence of the immune system. (syndromespedia.com)
  • Most cases of Stickler syndrome are due to autosomal-dominant COL2A1 gene mutations leading to abnormal type II collagen. (mdpi.com)
  • Other symptoms of CREST syndrome can be exhaustion, weakness, difficulties with breathing, pain in hands and feet, dizziness and badly healing wounds. (wikipedia.org)
  • You may have any CREST syndrome symptoms but not experience any thickened skin. (clevelandclinic.org)
  • This assumption comes from the pathophysiology involved in developing the CREST Syndrome. (syndromespedia.com)
  • CREST syndrome involves the production of autoimmune anti-nuclear and anti-centromere antibodies, though their cause is not currently understood. (wikipedia.org)
  • It is presumed that Anticentromere Antibodies (ACA) are the role in the development of the CREST syndrome, though it is not found in every involved ethnic group (Afro-American, south-African, Indian, and Thai people) in further studies. (syndromespedia.com)
  • Certain toxic chemicals like benzene, polyvinyl chloride, trichloroethylene and silica may elicit CREST syndrome due to genetic disposition to the ailment. (syndromespedia.com)
  • Dravet syndrome is a rare, genetic epileptic encephalopathy that gives rise to seizures that don't respond well to seizure medications. (jacanswers.com)
  • What is the genetic basis of down syndrome? (jacanswers.com)
  • Down syndrome is a genetic disorder caused when abnormal cell division results in an extra full or partial copy of chromosome 21. (jacanswers.com)
  • This extra genetic material causes the developmental changes and physical features of Down syndrome. (jacanswers.com)
  • People living with lupus and CREST syndrome experience the diseases differently. (lupus.net)
  • Apert syndrome), diseases of nervous system (e.g. (ca.gov)
  • The cause of CREST syndrome isn't known exactly, but individuals in the first two years of the disease have a higher than normal number of T- helper cells in the skin on their hands and face, particularly near small blood vessels. (osmosis.org)
  • 5 If a family member has an autoimmune disease, you also have a higher risk of developing CREST syndrome. (lupus.net)
  • Cushing's disease is not the same as Cushing's syndrome. (jacanswers.com)
  • What Is The Difference Between Lupus and CREST Syndrome? (lupus.net)
  • Lupus and CREST syndrome are both autoimmune disorders. (lupus.net)
  • In this article, we will take a look at what CREST syndrome is and how it is different from lupus. (lupus.net)
  • The exact causes of lupus and CREST syndrome are unknown. (lupus.net)
  • CREST syndrome can be noted in up to 10% of patients with primary biliary cholangitis. (wikipedia.org)
  • The lifestyle of quilombola communities has changed due to extra community influence, thus affecting their environmental and behavioral factors related to the Metabolic Syndrome (MS). However, little is known about the influence of MS on the Quality of Life (QoL) of quilombola residents. (bvsalud.org)
  • ABSTRACT This study assessed the prevalence of the metabolic syndrome, and its components, as defined by Adult Treatment Panel III criteria in Jordanian patients attending a family practice clinic for management of cardiovascular risk factors. (who.int)
  • Family practitioners should be alerted to the importance of multiple risk factors in the metabolic syndrome. (who.int)
  • Our family medicine clinic is a hos- study period, the number of selected pital-affiliated clinic located in Jordan patients totalled 730 (281 males and The metabolic syndrome is a cluster- University Hospital (the main teaching 449 females). (who.int)
  • The concept of metabolic syndrome accurate, well controlled and subject to peer evaluation. (who.int)
  • In this study we assessed the preva- having a first degree relative (parent, prevalence in various populations was lence of the metabolic syndrome and sibling or child) that has history of myo- hindered by lack of a uniform definition its individual components as defined cardial infarction or ischaemic stroke of the syndrome [1]. (who.int)
  • 65 years of the metabolic syndrome are currently cardiovascular risk factors attending the in women. (who.int)
  • Cushing's syndrome refers to the general state characterized by excessive levels of cortisol in the blood. (jacanswers.com)
  • How to tape your knee for patellofemoral pain syndrome? (jacanswers.com)
  • It runs from the iliac crest and has attachments on the lumbar (low back) vertebrae, and ends at the 12th (lowest) rib in the back. (ideal-balance.net)
  • Any surgery on lumbar spine carries a risk of cauda equina syndrome. (jacanswers.com)
  • A so-called "Down syndrome cat" typically manifests some distinctive characteristics, including: Broad noses. (jacanswers.com)
  • 1,5 More severe cases of CREST syndrome are found in Black and Native American people. (lupus.net)
  • There's no cure for Duane syndrome, but surgery can be used to try to improve or eliminate issues with head turns, reduce or completely remove considerable misalignment of the eyes, reduce severe retraction of the eyeball, and improve the tendency of the eye to deviate upward or downward with particular eye movements. (jacanswers.com)
  • Pain at the iliac crest, referred to as 'iliac crest syndrome,' is experienced at the posterior (back) portion of the iliac crest and can be persistent (Fig. 1). (ideal-balance.net)
  • Sometimes it forms a long crease on the head or neck, referred to as en coup de sabre because it resembles a saber or sword wound. (scleroderma.org)
  • In CREST syndrome, people often face swallowing difficulties, due to their problem in the esophagus. (syndromespedia.com)
  • Conclusions These findings provide definitive evidence for the role of PURA in causing a variable syndrome of neurodevelopmental delay, learning disability, neonatal hypotonia, feeding difficulties, abnormal movements and epilepsy in humans, and help clarify the role of PURA in the previously described 5q31.3 microdeletion phenotype. (bmj.com)
  • These statements are often leveraged in a syndrome definition to exclude common false positives. (cdc.gov)
  • [ 5 ] reviewed 13 patients with CREST and CRST syndromes and found the syndromes equivalent. (medscape.com)
  • The usual sites of development of the CREST Syndrome, include the lower part of the hands and legs. (syndromespedia.com)
  • Noncancerous tumors that can cause Cushing syndrome include: Adrenal adenomas, a common tumor that rarely makes excess cortisol. (jacanswers.com)
  • Both are common sites of pain at the iliac crest. (ideal-balance.net)
  • Adrenocortical carcinomas, or adrenal cancers, are the least common cause of Cushing's syndrome. (jacanswers.com)
  • Is down syndrome common in australia? (jacanswers.com)
  • RÉSUMÉ La présente étude a évalué la prévalence du syndrome métabolique et ses composantes selon les critères de l' Adult Treatment Panel III chez des patients jordaniens consultant dans un établissement de soins en médecine familiale pour la prise en charge des facteurs de risque cardio-vasculaires. (who.int)
  • It assumed that CREST syndrome is developed due to an autoimmune disorder, means the immune system of one's body can act against own body. (syndromespedia.com)