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Latest Genetic disorders Stories

2012-04-30 10:54:23

MR enterography is superior to CT enterography in diagnosing fibrosis in pediatric patients with Crohn disease and equally as good as CT enterography in detecting active inflammation, and a new study shows. The study, conducted at Massachusetts General Hospital in Boston, found that MR enterography was 77.6% accurate in depicting fibrosis compared to 56.9% for CT enterography. MR enterography had an 82.1% accuracy rate versus 77.6% accuracy rate for CT enterography for detecting active...

2012-04-30 00:20:05

Singapore, Apr 30, 2012 - (ACN Newswire) - Scientists have discovered that they can dramatically increase the life span of mice with progeria (premature ageing disease) and heart disease (caused by Emery-Dreifuss muscular dystrophy) by reducing levels of a protein called SUN1. This research was done by A*STAR's Institute of Medical Biology (IMB) in collaboration with their partners at the National Institute of Allergy and Infectious Diseases in the United States and the Institute of Cellular...

2012-04-27 11:28:14

The following research from NewYork-Presbyterian Hospital/ Columbia University Medical Center is being presented at the 64th annual meeting of the American Academy of Neurology (AAN), April 21-26, 2012, in New Orleans. ORAL PRESENTATIONS Dynamic Cerebral Autoregulation Is Transiently Impaired after Large-Vessel Acute Ischemic Stroke Authors: Nils Petersen, Santiago Ortega-Gutierrez, Andres Reccius, Amy Huang, Arjun Masurkar, and Randolph Marshall Background/Significance: Dynamic...

2012-04-26 22:29:05

A team of researchers has discovered a treatment for a common metabolic disorder. The study, published by Cell Press on April 26th in the American Journal of Human Genetics, the official journal of the American Society of Human Genetics, reports that supplementation of nitric oxide (NO) in mice and man afflicted with argininosuccinic aciduria (ASA), a urea cycle disorder (UCD), results in long-term heart and neuropsychological improvements. UCDs are genetic metabolic conditions resulting...

2012-04-26 22:26:38

In the spring of 2010, Baylor College of Medicine's Dr. Brendan Lee received a desperate email from the mother of one of his patients. The teen — who had been Lee's patient for most of his life — was in hypertensive crisis and none of the usual treatments could bring his blood pressure down to normal. His heart was enlarged and not pumping well — a problem called cardiomyopathy that was the result of more than a decade of difficult-to-control high blood pressure....

2012-04-26 22:15:36

Reports new study in Biological Psychiatry Huntington disease (HD) is an inherited neurodegenerative disorder caused by a defect on chromosome four where, within the Huntingtin gene, a CAG repeat occurs too many times. Most individuals begin experiencing symptoms in their 40s or 50s, but studies have shown that significant brain atrophy occurs several years prior to an official HD diagnosis. As a result, the field has sought a preventive treatment that could be administered prior to the...

2012-04-26 09:29:02

Study shows developing organisms can identify and fix abnormalities in head and face Developmental biologists at Tufts University have identified a "self-correcting" mechanism by which developing organisms recognize and repair head and facial abnormalities. This is the first time that such a mechanism has been reported for the face and the first time that this kind of flexible, corrective process has been rigorously analyzed through mathematical modeling. The research, reported in the...

2012-04-26 09:23:08

Reducing oxidative stress through exercise may eventually be used to treat sickle cell disease Sickle cell disease (SCD), an inherited condition that causes red blood cells to sometimes deform into a crescent shape, affects an estimated 100,000 Americans, typically those of African descent. However, far more have sickle cell trait (SCT), caused when individuals carry just a single copy of the disease-causing mutation in their genes. Rather than all their red blood cells being affected,...

2012-04-25 20:19:20

A team led by scientists at Cold Spring Harbor Laboratory (CSHL) publishes research today indicating a striking association between genes found disrupted in children with autism and genes that are targets of FMRP, the protein generated by the gene FMR1, whose dysfunction causes Fragile-X syndrome. The new study appears online April 25 in the journal Neuron. Fragile-X syndrome is the most common cause of inherited intellectual disability. It is also counted among the autism spectrum...


Latest Genetic disorders Reference Libraries

44_b4e6022f2dde476f8bd4cab961972a2d
2007-12-13 19:44:51

The Munchkin is a fairly new breed of cat with a lot of controversy surrounding it. The breed is created by a mutation that causes achondroplasia, or hypochondroplasia, which results in the cats having abnormally short legs. The breed originated when a pregnant, short-legged black cat was discovered in Louisiana in 1983. One of her kittens, a tomcat, became the father of the breeding program for Munchkins. Several cat registries refuse to recognize the breed due to the controversy that...

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Word of the Day
omadhaun
  • A fool; a simpleton: a term of abuse common in Ireland and to a less extent in the Gaelic-speaking parts of Scotland.
This word is partly Irish in origin.