Tag: "syndrome" at biology news
Findings on cell communication may help fight three genetic diseases
...een the nucleus and cytoplasm. The fragile X (FX) syndrome
appears also to be a disease of nucleocytoplasmic transport. FX is the most frequent inherited cause of mental retardation and autism. One protein is missing, and this protein, which binds ribonucleic acid (RNA), can reside in either the nucleus or c...
UC researchers have discovered novel cell adhesion mechanism that may lead to improved treatment for sickle cell disease
... has been found to reduce severe pain, acute chest syndrome
(a sudden compromise in lung function related to vascular blockage and/or infection) and the need for blood transfusions. The drug, used for cancer treatment, helps patients with sickle cell disease produce red blood cells that are less rigid and st...
University of Ulster spearheads giant leap forward in medicine
...eep Vein Thrombosis - the so-called economy class syndrome
recently highlighted when passengers on long haul aircraft flights suffered lethal blood clots and heart disease. The African Running Frog produces a venom which paralyses giant insects which prey on it. Peptides from the venom could be incorporated...
Fire and ice: An altered protein brings fever, chills
...ic fever syndromes: familial cold autoinflammatory syndrome
(FCAS), in which affected people develop rashes an...ymptoms when exposed to cold air, and Muckle-Wells syndrome
(MWS), which causes deafness as well as periodic fevers. Autoinflammatory conditions are those in ...
Researchers describe atomic-size 'sorter' that performs vital cellular function
...ction rate of the potassium ion channels. Long QT syndrome
can occur either as a result of a genetic condition or as a side effect of many drugs. "There are many heart medications, anti-virals, anti-seizure and anti-malarial drugs that cause long QT in some people. There are as many as 100 known drugs that c...
New generation of leaders in cancer research honored
... cancer, especially kidney cancer. "This is a rare syndrome
but it can teach us a lot about normal human physiology," Dr. Kaelin said. "As a clinician, I appreciate and understand the unusual features of this disease and I use those features to guide our research." The risk arises because VHL normally causes ...
Molecular basis of mental retardation uncovered
...cond leading cause of mental retardation afterDown syndrome
and the most common cause of inherited mental reta...itially met at the 2001annual meeting on fragile X syndrome
at Cold Spring Harbor Laboratory,collaborated and, working together, discovered that nearly 70 perce...
Researchers discover 'thermostat' that regulates bone density
... the inherited disorder, osteoporosis-pseudoglioma syndrome
(OPPG). Studies of families with OPPG led the researchers to mutations in a completely unsuspected gene called LDL receptor-related protein 5 (LRP5), which codes for a protein whose precise cellular function remains unknown. I became interested in th...
Scientists identify specific genes in the brain affected by fragile X syndrome
..., provides the first clear evidence that fragile X syndrome
may be caused by the dysregulation of specific mRN...eries to elucidate the proximal cause of fragile X syndrome
as well as to provide new targets for drug therapy ," said principal investigator Stephen T. Warren,...
Major stress during pregnancy linked to autism
...n who had children with Down's syndrome
- a genetically caused neurolo...he study for normal and Down's syndrome
pregnancies. Stress levels for the mothers of autistic children were nearly twic...
Gene triggers stem cell differentiation in the intestine
...ew treatments for such diseases as irritable bowel syndrome
and other abnormalities of gut motility. Also, since these intestinal cells depend on these regulatory pathways to signal them to stop proliferating, understanding those pathways could yield insights into the mechanisms of colon cancers. In the longe...
Single enzyme may be linked to obesity
...of patients with the endocrine disorder Cushing's syndrome
who have too much cortisol in their blood had shown that they develop increased intra-abdominal fat as well as other metabolic symptoms. This led Flier to hypothesize that obese patients who don't typically have increased blood cortisol levels m...
Immunotherapy treatment shows dramatic results for rare neurological disorder
...ministered to patients suffering from stiff person syndrome
(SPS), provides dramatic relief from disabling symptoms, according to a study appearing in the December 27, 2001, issue of The New England Journal of Medicine.* The studys principal author, Marinos C. Dalakas, M.D., chief of the Neuromuscular Diseas...
Subjects lying face up reveal a reduced ability for 'nasal air conditioning'
...ts with congenital heart disease and Eisenmenger's syndrome
(cardiac failure with significant right to left shunt producing cyanosis due to higher pressure on the right side of the shunt). Alveolar oxygen pressure and oxygen saturation were significantly decreased in the supine position compared with the sitt...
Respiratory activation in patients with obstructive sleep apnea syndrome (OSA)
Bethesda, MD -- Sleep apnea/hypopnea syndrome
is characterized by repetitive upper airway obstru... in patients with obstructive sleep apnea/hypopnea syndrome
(OSA). A new study tested the hypothesis that episodic hypoxic exposure activates LTF in OSA patien...
New research findings offers possible clues for avoiding sudden infant death syndrome (SIDS)
...Bethesda, MD The incidence of sudden infant death syndrome
(SIDS) has decreased markedly over the past decade since recommendations were made in several countries to place infants in a nonprone position when sleeping. However, SIDS remains the leading cause of infant death beyond the neonatal period in the U...
Alcohol consumption during pregnancy alters thyroid function
...ose found in children suffering from fetal alcohol syndrome
(FAS). Due to these commonalities, some researchers speculate that alcohol may mediate alcohol-related birth defects (ARBDs) by inducing hypothyroid conditions in utero . A study in the January issue of Alcoholism: Clinical & Experimental Researc...
Stem cell study provides new clues to origin of Down syndrome
...enetic study based on stem cells derived from Down syndrome
and normal fetal tissue. The results illuminate so...the abnormal brain development of people with Down syndrome
have not been understood. "Until now, we have only had mouse models of Down syndrome, which have not...
'Night eating syndrome' may be related to the performance of the body -- not the mind
...sychological and physical disorders. Night eating syndrome
will soon join the ranks of conditions related to ...em and the endocrine apparatus of the night eating syndrome
has previously been described as changes in the circadian rhythm (biologic variations or rhythms wit...
Scientists meet to discuss latest in how sex matters
...ation. He will also address the link between Down syndrome
and Alzheimers disease. Andrew Hoffman, MD, Stanford University School of Medicine, will examine the potential of gene therapy and other therapeutic approaches to turn a gene off or on to prevent serious disease. Some genes are inherited differentl...
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