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ATRX -- Too much or too little underlies sex abnormalities
07-25-2007 · EurekAlert!ATRX is a protein pivotal for producing healthy blood. Mutations in this protein are linked to the blood disease thalassemia, which while rare, has one of the world’s highest rates of incidence right here in Melbourne.
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Keywords: atrx, little, underlies, sex, abnormalities, underly, abnormality
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- Brainstem abnormality link to SIDS stronger than previously indicated
10-31-2006 · EurekAlert!
Preliminary research suggests that brainstem abnormalities involving certain serotonin pathways in the brain may play a more important role in SIDS than previously thought, according to an article in the Nov. 1 issue of JAMA.
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- Complex ART procedures more likely to lead to umbilical cord abnormality
07-04-2007 · EurekAlert!
The more complex the assisted reproduction procedure, the more likely the umbilical cord develops in an atypical place or have other abnormalities, a scientist told the 23rd Annual Conference of the European Society of Human Reproduction and Embryology today (Wednesday, July 4). Mrs. Ilse Delbaere, from Ghent University Hospital, Ghent, Belgium, said that the study, including over 4000 twin pregnancies, was the first to examine umbilical cord abnormalities in such a large population.
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- Study shows that anal cytology predicts anal precancer in HIV-positive gay men
03-21-2007 · EurekAlert!
HIV-positive men who have sex with men are up to 90 times more likely than the general population to develop anal cancer. Detection of precancerous changes (anal dysplasia) by anal cytology -- essentially an anal canal Pap smear -- is a relatively new procedure and one that has yet to enter standard practice. This UCLA study demonstrated that abnormal anal cytology was highly predictive of anal cell abnormalities that were subsequently confirmed by anal biopsy.
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- Study examines genetic defects linked to body abnormalities in patients with childhood cancer
01-01-2008 · EurekAlert!
Children with cancer have a higher prevalence of body abnormalities, such as asymmetric lower limbs and curvature of the spine, suggesting that the genetic defect responsible for the abnormality may play a role in the development of cancer, according to a study in the Jan. 2 issue of JAMA.
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- A low expression of MX2 gene exists in the white blood cells of narcoleptics
08-01-2007 · EurekAlert!
The first report to identify the biological markers of narcolepsy using gene expression in white blood cells finds that the MX2 gene, which is relevant to the immune system, is significantly less expressed in narcoleptics compared with normal subjects. This underlies the abnormalities in the blood cells of persons suffering from narcolepsy.
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- Williams Syndrome, The Brain And Music
10-05-2006 · ScienceDaily
Children with Williams syndrome, a rare genetic disorder, just love music and will spend hours listening to or making music. A study by a multi-institutional collaboration of scientists, published in a forthcoming issue of NeuroImage, identified structural abnormalities in a certain brain area of people afflicted with Williams syndrome. This might explain their heightened interest in music and, in some cases, savant-like musical skill.
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- Unraveling the risk for schizophrenia -- Eye movement and attention focus of new study
02-21-2007 · EurekAlert!
A Binghamton University researcher has established a new framework to help determine whether individuals might be at risk for schizophrenia. In a study published in this month's Journal of Abnormal Psychology, Mark F. Lenzenweger, a professor of clinical science, neuroscience and cognitive psychology at Binghamton University, State University of New York (SUNY), is the first to have found that abnormalities in eye movements and attention can be used to divide people into two groups in relation to schizophrenia-related risk.
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- Changes in chromosomal constitution of preimplantation embryos suggest caution in genetic screening
06-18-2007 · EurekAlert!
Embryos that are selected out as abnormal can undergo chromosomal modifications, a scientist will tell the annual conference of the European Society of Human Genetics today, Tuesday, June 19. Tsvia Frumkin, from the Racine IVF unit, LIS Maternity Hospital, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel, will tell the conference that her team's findings meant that the results of preimplantation genetic screening for chromosomal abnormalities were not always reliable, and should be interpreted with caution.
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- ClC-1 helps mice get a move on
11-15-2007 · EurekAlert!
One symptom of myotonic dystrophy is the inability to voluntarily relax the muscles. DM originates from complex genetic mutations that result in abnormalities of several muscle proteins, including ClC-1. A new study, has established that abnormal inclusion of a specific region of the ClC-1 gene in ClC-1 mRNA has a role in the development of disease in mouse models of DM and developed an approach to correct this, eliminating myotonia.
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- New research warns of the lack of specialization when judging individuals with mental disorders
10-09-2007 · EurekAlert!
Pioneering research carried out at the University of Granada has identified the need for greater cooperation between criminal law and psychiatry when determining the effect of these disorders on the individual's responsibility. This research has analyzed all the criminal sentences (over 3000) related to abnormality or mental disorders passed in Spain since 1870. Schizophrenia, paranoia, neurosis, sexual and personality disorders, and those related to alcohol consumption are the most frequent pathologies in Spain.
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