Key to early diagnosis of autism may be in the placenta
...t inclusions were increased in cases of chromosome abnormalities and genetic diseases, but we had no idea whether t...ime of birth in the absence of any obvious genetic abnormalities would be an indication to have a child examined by a specialist to determine the presence of ASD."...New tool tracks brain development in babies
...nths had major motor problems. "Minor white matter abnormalities seen with fiber tracking tended to resolve at thre... is needed to determine whether the detected fiber abnormalities ultimately correlate with outcomes." Hypoxic ischemia remains an important cause of infant mortality...Cause of neuronal death in Down's syndrome, Alzheimer's disease could be surprisingly simple
..., report evidence that surprisingly simple genetic abnormalities in the machinery of critical neuronal growth-regul...such an overdose of particular genes leads to such abnormalities as mental retardation. In their papers, Salehi and colleagues and Tessarollo and colleagues studied ...UF study sheds light on cystic fibrosis-related diabetes
...e it is the first to show that there are intrinsic abnormalities in the insulin-producing cells of the pancreas related to the genetic defect that causes cystic fibrosis."...Genetics behind developmental brain disorders may play a wider role with congenital diseases
...hey are investigating the cellular and biophysical abnormalities resulting from beta-actin mutations, which will se...ations and disease phenotypes arising from genetic abnormalities of beta-actin proteins. "Ultimately, we hope to prove that the identification of genetic abnormali...AACR awards $2.6 million in grants for metastatic colon cancer research
...entifying and profiling tumor-associated signaling abnormalities in T-cells. This will affect choice of therapy and will show whether signalling abnormalities can be reversed using immunotherapy. Douglas V. Faller, M.D., Ph.D., Boston University School o...Higher risk for cervical cancer seen among women infected with multiple HPV types
... cancer, the new research found that pre-cancerous abnormalities primarily occurred in women infected with HPV 16 a...es and a woman's risk for developing pre-cancerous abnormalities in her cervix. During each of the 16,000 patient visits, both the pap smear and HPV tests were admin...Gene mutations responsible for Rett syndrome in females present sporadically in males
...of RTT. Based on the results of this study, MECP2 abnormalities should be evaluated in young infant males who develop progressive encephalopathy including respiratory insufficiency, microcephaly, abnormal muscle tone and various movement disorders, as mutations to the gene may be the source of the infant's neurol...New strategy rapidly identifies cancer targets
... reduced the time it takes to zero in on molecular abnormalities that might be vulnerable to specific drug treatments. "This approach gives us a way to figure out what's driving the growth of a cancer in an individual patient and ultimately match that patient with the right drug," said Druker, who is based at th...News tips from the Journal of Neuroscience
... mutated (ATM). Interestingly, ATM mutations cause abnormalities affecting proliferating cells, including immunodeficiency and an increase in certain cancers, but also cerebellar degeneration. The mechanism of the loss of cerebellar granule cells and Purkinje cells, and thus the ataxia, is not obvious. This week, ...Autistic brain has fewer neurons for processing emotion
...nt other independent studies that suggest amygdala abnormalities likely contribute significantly to the primary core deficit in social function that defines this disorder," says Emanuel DiCicco-Bloom, MD, professor of pediatric neurology at the University of Medicine and Dentistry of New Jersey. Authors Cynthia ...SNM honors outstanding contributors
...hysiological mechanisms of the posterior cingulate abnormalities in Alzheimer's disease using PET, SPECT and MRI, and his recent imaging research program concerning axonal transport in small animal brains and its relationship to Alzheimer's disease. Minoshima's research interests have included image analysis and...Gene discovery may shed light on kidney disease
...mutations in the NOTCH2 gene were linked to kidney abnormalities in patients and families. "While Alagille syndrome is relatively rare, organ diseases are not rare, and our findings suggest that genes on this biological pathway may have a broader role in kidney disorders," said study leader Nancy B. Spinner, Ph.D....JCI table of contents: August 1, 2006
...al barrier. TITLE: Proteinuria precedes podocyte abnormalities in Lamb2-/- mice, implicating the glomerular basement membrane as an albumin barrier AUTHOR CONTACT: Jeffrey H. Miner Washington University School of Medicine, St. Louis, Missouri, USA. Phone: (314) 362-8235 : Fax : (314) 362-8237; E-mail: minerj@...Miscarriage significantly associated with increasing paternal age
...hown by other researchers that older men have more abnormalities in their sperm, and that their children are more s...en donors because of the increased risk of genetic abnormalities in the offspring of older fathers. The international team of scientists involved in the study u...Human embryonic stem cells display a unique pattern of chemical modification to DNA
...logical deficiencies, mental retardation and other abnormalities such as Rett, Prader-Willi, Angelman and Beckwith-Wiedemann syndromes. Until recently, DNA methylation could only be studied one gene at a time. But a new microarray-based technique developed at Illumina enabled the scientists conducting this new ...Neural stem cells derived from human embryonic stem cells carry abnormal gene expression
...important aspects in stem cell biology - potential abnormalities in cells derived from human embryonic stem cells. Stem cells with abnormalities may not effectively treat the diseases they were created to treat, or they may result in secondary p...High blood pressure induces low fat metabolism in heart muscle
...uggested that hypertrophic heart muscle had subtle abnormalities in contractile function at rest and was less energy efficient. Normally heart muscle will alter between using fats and carbohydrates as fuel depending on availability. But at times of the day when blood glucose is low -- such as when a person hasn'...Ultrasound affects embryonic mouse brain development
...nt use of ultrasound on pregnant mice causes brain abnormalities in the developing mouse fetus, Yale School of Medicine researchers report August 7 in the Proceedings of the National Academy of Sciences. "Proper migration of neurons during development is essential for normal development of the cerebral cortex an...... of progressive neurological decline and breathing abnormalities starting soon after birth. All but two had a family history of a girl in the family with Rett syndrome. This study has confirmed a further four cases with no family history." The study, published in the international journal Neurology, was a coll...