Tag: "syndrome" at biology news

Peering at a machine that pries DNA apart

...everal diseases, including the cancer-proneBloom's syndrome and a disease of premature aging called Werner syndrome. Helicases are interesting for several reasons. First, they are molecular motors,just like myosin, which moves along actin fibrils to contract a muscle, orkinesin, which transports cargo along m...

Key developmental genes identified, linked to rare syndrome

...ral stability. It already had been known that ICF syndrome - a genetic condition that includes defects in the immune system and characteristic facial abnormalities - was also associated with chromosomal instability and a lack of methylation in the area of the minor satellite repeats. When Li's team identifi...

Study finds reliability problems with nerve test for carpal tunnel syndrome

...A nerve test widely used to diagnose carpal tunnel syndrome should not be relied upon to give a "yes-no" answe...lts show, people without any typical carpal tunnel syndrome symptoms can register abnormal results on nerve conduction tests depending on how the test is perfor...

Drinking during pregnancy has yet another consequence: premature delivery

...ohol consumption, more specifically, fetal alcohol syndrome (FAS) and fetal alcohol effects (FAE). Not until recently, however, have researchers understood that alcohol consumption during pregnancy can actually cause early delivery. "A lot more attention has been given to the effects of alcohol on the fetus ...

How alcohol gives, and then takes away

...nd obesity, attention-deficit disorder, Tourette's syndrome and pathological gambling -- with a "chemical imbalance" in the brain. Researchers knew that pleasure, to various degrees, is a distinct neurological function that is linked to a complex reward and reinforcement system. In particular, dopamine appe...

Diet of antioxidants and oils improves lung disorder, study shows

...problem. Patients with acute respiratory distress syndrome (ARDS) who were given the special liquid formula via a feeding tube spent an average of five fewer days relying on a ventilator and five fewer days in the intensive care unit. Also, the same patients developed significantly fewer failures in other o...

Understanding key protein in Fragile X syndrome

...tion with such a delicate-sounding name, Fragile X syndrome can have powerful effects, ranging from learning d...mutant FMRP the root molecular cause of Fragile X syndrome causes mental retardation. Initially, Warren's group isolated the proteins from cultured connective...

$500,000 gift launches new clinical research effort in peripheral neuropathy

...is; or autoimmune diseases, such as Guillian-Barre syndrome or arthritis. Neuropathy is a frequent complication of diabetes, affecting an estimated 60 percent of diabetic patients. It can result in pain, sometimes constant and quite severe. Although the causes can vary, peripheral neuropathies produce rela...

Researchers at Children's Hospital of Philadelphia play major role in genetic milestone - first full sequencing of a human chromosome

... 4,000 births. (It is also called velocardiofacial syndrome and DiGeorgesyndrome.) Children's Hospital cares f...meand will host an international conference on the syndrome in June 2000. Portions of the DNA sequences on chromosome 22 have previously been made available to...

Gene found for Papillon-Lefevre syndrome--a disorder affecting skin and gums

...ked down the gene responsible for Papillon-Lefevre syndrome (PLS), a rare but devastating condition that produ...case occurring in every 1 - 4 million people. The syndrome has been observed in different ethnic groups and geographic regions, and is a recessive disorder req...

Study identifies new tumor suppressor gene in Li-Fraumeni syndrome

...ears in the Dec. 24 issue of Science. Li-Fraumeni syndrome was first described in 1969 by Frederick Li, MD, n... slightly different pattern of multiple cancers, a syndrome called Li-Fraumeni syndrome variant. The research team analyzed genetic material from four families...

Awareness, quick action key to battling canine bacterial disease

...by Streptococci were also reported in humans. This syndrome relates to a very aggressive and rapidly advancing infection of subcutaneous tissues with extensive tissue destruction and high mortality rates. In 1996, Miller and Prescott reported on a series of seven dogs from southern Ontario that had severe sys...

Celiac disease not as uncommon as once thought, say researchers at Wake Forest

...osed with other conditions such as irritable bowel syndrome and lactose intolerance.A diagnosis of celiac disease requires microscopic examination of a small piece of tissue from the intestinal lining (biopsy) obtained during an endoscopic procedure, according to Hill. "Celiac disease can be extremely varie...

Photoreceptor gene mutations cause degenerative eye disease

...chers have discovered the cause of enhanced S-cone syndrome (ESCS), a disorder that makes those affected sensi...dying another retinal disorder called Bardet Biedl syndrome (BB). While sequencing different regions of the genome associated with BB they located a gene calle...

Progress in mental retardation research

...ent of the population, either as part of a complex syndrome (e.g., Down syndrome) or by itself (non-specific MR). Many different gene defects can cause non-specific MR, including a variety of mutations on the X chromosome that mostly affect males. Because sufferers with different mutations can have similar ...

Yale researchers pinpoint possible causes of dizziness in the elderly/study suggests dizziness is a geriatric syndrome

... of dizziness. "Considering dizziness a geriatric syndrome does not mean that a single disease can't be primarily responsible for the dizziness in a sub-group of people, but does suggest that, in many, if not most older people, severe problems contribute together to cause dizziness," said Tinetti. "Our resul...

Intersex goats link to rare human disorder

...le for Blepharophimosis Ptosis Epicanthus inversus syndrome (BPES). Long ago scientists recognized that a single goat gene or gene region (PIS) causes both hornlessness and the growth of male genitals on female animals. To pinpoint this region, Vaiman and colleagues identified and located 16 genetic markers,...

Alexion and Yale discover harmful complement activation in patients with acute coronary syndrome

... have discovered that patients with acute coronary syndrome (ACS) have severe inflammation including significa...blood samples from 11 patients with acute coronary syndrome and four patients with stable angina were obtained in order to measure production of activated compl...

Video cameras reveal seals, whales, and other marine mammals take a laid-back approach to deep diving

...osis, or the bends, a painful and life-threatening syndrome that afflicts divers who return too quickly from deep dives. "The progressive collapse of the lungs in marine mammals preadapts them for taking advantage of the buoyancy change," Williams said. By resting on the way down, the animals are ...

Gene defects tied to inability of cells to repair DNA damage

...elopment and why a rare disease such as Cockayne's syndrome occurs so rarely. (Only 140 people have been diagnosed worldwide.) "If the developing embryo is unable to repair endogenous types of DNA damage, normal damage that cells are always exposed to, the likelihood of going to full term is reduced," Leadon ...

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