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  • irritable bowel sy
  • Irritable bowel syndrome is often dismissed as just being a nuisance rather than anything more serious, but its symptoms can seriously diminish a patient's quality of life. (bmj.com)
  • Irritable bowel syndrome (IBS) is a chronic condition characterised by abdominal pain, bowel dysfunction, and abdominal bloating in the absence of any structural abnormality. (bmj.com)
  • 1 About 10-15% of the adult population in the United Kingdom is affected by irritable bowel syndrome. (bmj.com)
  • digestive disorders like irritable bowel syndrome ( IBS ). (draxe.com)
  • genetic
  • Autoimmune lymphoproliferative syndrome (ALPS) is a rare genetic disorder of the immune system first described by NIH scientists in the mid-1990s that affects both children and adults. (nih.gov)
  • Atypical hemolytic uremic syndrome (aHUS) is an extremely rare, life-threatening, progressive disease that frequently has a genetic component. (wikipedia.org)
  • The diagnosis of Bohring-Opitz syndrome (BOS) is established in a proband with suggestive clinical features and/or the identification of a constitutional heterozygous pathogenic variant in ASXL1 by molecular genetic testing . (nih.gov)
  • Williams syndrome is caused by the deletion of genetic material from a specific region of chromosome 7 . (nih.gov)
  • This graph depicts the general finding of a low relative risk associated with common, low-penetrance genetic variants, such as single-nucleotide polymorphisms identified in genome-wide association studies, and a higher relative risk associated with rare, high-penetrance genetic variants, such as pathogenic variants in the BRCA1 / BRCA2 genes associated with hereditary breast and ovarian cancer and the mismatch repair genes associated with Lynch syndrome. (cancer.gov)
  • Causes
  • Irritation of the median nerve in this manner causes tingling and numbness of the thumb, index, and the middle fingers -- a condition known as 'carpal tunnel syndrome. (medicinenet.com)
  • Cushing syndrome causes weight gain in the face and upper body, slowed growth in children, fragile skin, fatigue, and other health problems. (nih.gov)
  • GNAS gene mutations that cause McCune-Albright syndrome result in a G protein that causes the adenylate cyclase enzyme to be constantly turned on (constitutively activated). (nih.gov)
  • The GNAQ gene mutation that causes Sturge-Weber syndrome results in the production of a protein with impaired function. (nih.gov)
  • Creepy-crawly sensations in the legs sounds pretty benign, but restless legs syndrome can be so severe that it causes extreme stress-often depression and painful physical symptoms. (rls.org)
  • Disorders
  • NINDS supports and conducts research on neurobehavioral disorders such as Klüver-Bucy syndrome. (nih.gov)
  • People with Wolfram syndrome often also have pituitary gland dysfunction that results in the excretion of excessive amounts of urine (diabetes insipidus), hearing loss caused by changes in the inner ear (sensorineural deafness), urinary tract problems, reduced amounts of the sex hormone testosterone in males (hypogonadism), or neurological or psychiatric disorders. (nih.gov)
  • Psychiatric disorders associated with Wolfram syndrome include psychosis, episodes of severe depression, and impulsive and aggressive behavior. (nih.gov)
  • abnormal
  • In addition, the leg bowing worsens, and children with Stüve-Wiedemann syndrome may develop prominent joints, an abnormal curvature of the spine ( scoliosis ), and spontaneous bone fractures. (nih.gov)
  • The hippocampus and cerebellum reduced sizes that were seen in all the strains indicate that trisomy 21 is not only a hippocampus syndrome but that it results from abnormal interactions between the two structures. (springer.com)
  • People with McCune-Albright syndrome develop areas of abnormal scar-like (fibrous) tissue in their bones, a condition called polyostotic fibrous dysplasia. (nih.gov)
  • In Sturge-Weber syndrome , there is usually abnormal formation and growth of blood vessels within the two thin layers of tissue that cover the brain and spinal cord. (nih.gov)
  • Individuals with Sturge-Weber syndrome can have tangles of abnormal blood vessels (hemangiomas) in various parts of the eye. (nih.gov)
  • adolescence
  • however, some people with Stüve-Wiedemann syndrome live into adolescence or later. (nih.gov)
  • About 65 percent of people with Wolfram syndrome have sensorineural deafness that can range in severity from deafness beginning at birth to mild hearing loss beginning in adolescence that worsens over time. (nih.gov)
  • 2017
  • HERTZLIYA, Israel , Sept. 12, 2017 /PRNewswire/ -- XTL Biopharmaceuticals Ltd. (NASDAQ: XTLB, TASE: XTLB.TA) ("XTL" or the "Company"), a clinical-stage biopharmaceutical company developing treatments for autoimmune diseases, today announced the Company has received additional preclinical data regarding the role of hCDR1 as a potential treatment for Sjögren's syndrome (SS) from Prof. Edna Mozes of The Weizmann Institute of Science and the developer of hCDR1. (yahoo.com)
  • autoimmune
  • Why Is the Study of Autoimmune Lymphoproliferative Syndrome (ALPS) a Priority for NIAID? (nih.gov)
  • Sjögren's syndrome is a systemic autoimmune disease with some autoantibodies and clinical manifestations similar to those detected in SLE. (yahoo.com)
  • researchers
  • Stiff-person syndrome is considered by many researchers to be a spectrum of disease ranging from the involvement of just one area of the body to a widespread, rapidly progressive form that also includes involvement of the brain stem and spinal cord (PERM). (rarediseases.org)
  • Researchers have recommended that the designation Schwartz-Jampel syndrome type 2 no longer be used. (nih.gov)
  • type
  • X-Linked Opitz G/bbb Syndrome, also known as opitz syndrome, x-linked , is related to opitz gbbb syndrome, type i and opitz-gbbb syndrome . (malacards.org)
  • Duane syndrome type 1 is characterized by absent to very restricted abduction and normal to mildly restricted adduction. (diseaseinfosearch.org)
  • In addition to the usual features of Wolfram syndrome , individuals with Wolfram syndrome type 2 have stomach or intestinal ulcers and excessive bleeding after an injury. (nih.gov)
  • People with Wolfram syndrome type 2 do not develop diabetes insipidus. (nih.gov)
  • Only a few families from Jordan have been found to have Wolfram syndrome type 2. (nih.gov)
  • Sheehan syndrome is a type of hypopituitarism . (medlineplus.gov)
  • Fortunately, I found the Restless Legs Syndrome Foundation and learned what type of doctor to see and what help to get. (rls.org)
  • In people with Gorlin syndrome , the type of cancer diagnosed most often is basal cell carcinoma, which is the most common form of skin cancer. (nih.gov)
  • diabetes
  • Older or over-weight women with Turner syndrome are slightly more at risk of developing diabetes. (genome.gov)
  • Common conditions that can lead to carpal tunnel syndrome include obesity , pregnancy , hypothyroidism , arthritis , diabetes , and trauma . (medicinenet.com)
  • The hallmark features of Wolfram syndrome are high blood sugar levels resulting from a shortage of the hormone insulin ( diabetes mellitus ) and progressive vision loss due to degeneration of the nerves that carry information from the eyes to the brain (optic atrophy). (nih.gov)
  • Nearly everyone with Wolfram syndrome who develops diabetes mellitus requires insulin replacement therapy. (nih.gov)
  • Approximately 70 percent of people with Wolfram syndrome have diabetes insipidus. (nih.gov)
  • Pearson syndrome also affects the pancreas, which can cause frequent diarrhea and stomach pain, trouble gaining weight, and diabetes . (nih.gov)
  • benign
  • Most people with Gorlin syndrome also develop noncancerous (benign) tumors of the jaw, called keratocystic odontogenic tumors. (nih.gov)
  • Phenotypes
  • Belichenko NP, Belichenko PV, Kleschevnikov AM, Salehi A, Reeves RH, Mobley WC (2009) The "Down syndrome critical region" is sufficient in the mouse model to confer behavioral, neurophysiological, and synaptic phenotypes characteristic of Down syndrome. (springer.com)
  • cognitive
  • Although intelligence is normal, individuals with Turner syndrome are at risk of impairments in the cognitive, behavioral, and social domains. (aappublications.org)
  • People with Sturge-Weber syndrome have varying levels of cognitive function, from normal intelligence to intellectual disability. (nih.gov)
  • childhood
  • In early childhood, girls who have Turner syndrome may have frequent middle ear infections. (genome.gov)
  • Some children may survive into later childhood, but may go on to develop Kearns-Sayre syndrome . (nih.gov)
  • behavioral
  • Klüver-Bucy syndrome is a rare behavioral impairment that is associated with damage to both of the anterior temporal lobes of the brain. (nih.gov)
  • cardiovascular
  • Nine out of ten people with Marfan syndrome experience cardiovascular problems with the most serious complication being enlargement of the aorta. (umcvc.org)
  • people
  • People with carpal tunnel syndrome initially feel numbness and tingling of the hand in the distribution of the median nerve (the thumb, index, middle, and thumb side of the ring fingers). (medicinenet.com)
  • People with Duane syndrome have restricted ability to move the affected eye(s) outward toward the ear (abduction) and/or inward toward the nose (adduction). (diseaseinfosearch.org)
  • Sixty to 90 percent of people with Wolfram syndrome have a urinary tract problem. (nih.gov)
  • Most people with Sturge-Weber syndrome are born with a port-wine birthmark. (nih.gov)
  • To prevent these people while you are code stopping dose with this prednisone, vestibular syndrome dogs prednisone your depression may reduce your art just. (genericpharmashop.com)
  • Some people with Gorlin syndrome never develop any basal cell carcinomas, while others may develop thousands of these cancers. (nih.gov)
  • People with Williams syndrome whose NCF1 gene is not deleted have a higher risk of developing hypertension. (nih.gov)
  • distinctive
  • Young children with Williams syndrome have distinctive facial features including a broad forehead , a short nose with a broad tip, full cheeks , and a wide mouth with full lips. (nih.gov)
  • usually
  • Girls with Turner Syndrome are usually of normal intelligence with good verbal skills and reading skills. (genome.gov)
  • bone
  • Like the bone lesions, the café-au-lait spots in McCune-Albright syndrome may appear on only one side of the body. (nih.gov)
  • Pearson syndrome affects many parts of the body but especially the bone marrow and the pancreas . (nih.gov)
  • Pearson syndrome affects the cells in the bone marrow ( hematopoietic stem cells ) that produce red blood cells , white blood cells , and platelets . (nih.gov)
  • Diagnosis of Pearson syndrome is possible through a bone marrow biopsy , a urine test , or a special stool test . (nih.gov)