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Written by ANI
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Thursday, 11 September 2008 |
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Washington, September 11 (ANI): A collaborative study has revealed a submicroscopic aberration in a particular region of human chromosome 1q21.1 that is associated with a variety of developmental disorders in children. Dr. Heather C. Mefford, acting assistant professor of Paediatrics at the University of Washington, and Dr. Andrew J. Sharp of the University of Geneva Medical School in Switzerland say that the aberration can manifest itself as unexplained mild or moderate mental retardation, growth retardation, learning disabilities, seizures, autism, heart defects, other congenital abnormalities, cataracts, small head size, unusual facial features, hand deformities, or skeletal problems. While some people having the aberration are only slightly affected or apparently unaffected, others are more seriously impaired. For their study, the group used cytogenetic arrays, recent technological advances that can determine the presence or absence of submicroscopic imbalances in small sections of chromosomes. The researchers said that they checked for the presence of microdeletions and microduplications in a specific region of chromosome 1q21.1 in groups of patients with unexplained mental retardation, autism, or congenital abnormalities, and compared their findings with similar testing of a group from the general population. While they did not find any microdeletions in 4,737 controls from the general population, two controls had a small duplication at the far end of the region under study, and only one had duplication of the entire region. Published in the New England Journal of Medicine, the study report suggests that the genomic structure of 1q21.1 is extremely complex. The research article further states that there are still 15 assembly gaps, or 700 kb of missing sequence in 1q21.1, in the most recent map of the human genome. The researchers say that these gaps may contain as yet unknown genes that contribute to the differences in the types of developmental abnormalities that occur in children with the deletion. Supposedly unaffected deletion carriers might in fact have more subtle disorders that could be found during further clinical evaluations-for example, an examination of one apparently unaffected carrier revealed mild cataracts and a heart defect that were previously undetected. Given that other research groups have also found a connection between 1q21.1 deletions and schizophrenia in some people and parts missing in the reproductive tract in other people, the researchers say that their study confirms the association of 1q21.1 rearrangements with a broad spectrum of disorders, and also further dispel the notion that such rearrangements will necessarily follow the one-gene, one-disease model. The authors recognize that the diversity of disorders and the lack of a distinct syndrome accompanying 1q21.1 rearrangements will complicate genetic diagnosing and counselling. They suggest that doctors who are caring for patients with unexplained developmental abnormalities consider the identification of a 1q21.1 rearrangement in a patient a significant clinical finding, and probably an influential genetic factor contributing to the patient's disorder. According to them, young carriers should be monitored over the long term for the emergence of learning disabilities, autism, schizophrenia, or other neuropsychiatric disorders. The authors say that this study adds 1q21.1 as a chromosomal locus to the growing list of structural variants that might eventually be included in genetic screening panels for people with developmental delays or neuropsychiatric diagnoses. "Counseling in the prenatal setting will present the greatest challenge: although the likelihood of an abnormal outcome is high in a person with a 1q21.1 rearrangement, current knowledge does not allow us to predict which abnormality will occur in any given person," they write. (ANI)
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Last Updated ( Thursday, 11 September 2008 )
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Written by ANI
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Wednesday, 24 September 2008 |
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Berlin, September 24 (ANI): The High Resolution Imaging Science Experiment (HiRISE), carried by NASA's Mars Reconnaissance Orbiter is helping scientists make leaps forward in understanding both the ongoing and ancient processes that shaped the surface of Mars. A study of the nature and distribution of ancient megabreccia, led by Professor Alfred McEwen, HiRISE's Principal Investigator, suggests that this bedrock was formed during the late heavy bombardment period. Megabreccia consists of angular, randomly-orientated blocks that formed suddenly in energetic events such as meteorite impacts. It is thought to contain fragments of the oldest and deepest bedrock exposed on the surface of Mars. According to McEwen, "We think that the megabreccia was formed during a period of heightened meteorite activity about 3.9 billion years ago. This is around the time life appears to have begun on Earth, but we have very little record of that era in our terrestrial geology because ancient rocks are heavily metamorphosed." "Mars preserves a much better record of the heavy bombardment and, unlike the dry lunar surface, it shows the environmental effects in a water-rich crust," he added. The HiRISE team has identified megabreccia in more than 50 locations consistent with the most ancient terrains on Mars. These include the central uplifts of large craters and deep exposures such as the floor of parts of Valles Marineris. Well-exposed rock outcrops are needed to identify megabreccia, in particular from the diversity of colours and textures indicating diverse rock types. Megabreccia contains rock fragments from the earliest geological period on Mars, the Noachian era, which is more than 3.8 billion years ago. The megabreccia blocks vary in size from relatively small (1-5 metres) to larger than 10 metres in diameter. The small blocks were probably formed by post Noachian cratering, particularly when found in material filling crater floors. The large blocks are only found in locations consistent with hard, deep bedrock, such as the central uplifts. McEwen suggests that the blocks are largely cemented by melt from impacts and hydrothermal alteration. "We are in the midst of a paradigm shift in understanding the Noachian crust of Mars, thanks to the high-resolution data from the Mars Express and MRO missions," said McEwen. "The spectrometers on these missions found evidence of alteration due to water in the bedrock in many, if not most Noachian aged places. However, the younger Noachian era may have been relatively dry, so we may need to study the oldest outcrops of megabreccia to understand this era," he added. McEwen will also be presenting results of processes that may be shaping the surface of Mars today. (ANI)
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Last Updated ( Wednesday, 24 September 2008 )
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Written by ANI
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Monday, 29 September 2008 |
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London, Sep 29 121(ANI): Actor-turned-California Governor Arnold Schwarzenegger has vetoed the so called 'Paris Hilton' bill, which aimed at banning motorists from driving with pets in their laps. Republican assemblyman Bill Maze had proposed the bill after he spotted a woman driving with three dogs on her lap. The bill called for imposing a fine of at least 35 dollars motorists caught sharing the driver's seat with an animal. "If you've got a live animal, which you're not able to control, and that thing gets between you and the steering wheel or underneath your brake pedal, you've got a problem," the Telegraph quoted Maze as saying. Celebs like Paris Hilton and Jessica Simpson have often been spotted driving with pets in their laps. The driving-with-animals bill was backed by the 'Society for the Prevention of Cruelty to Animals' in L.A., but ridiculed as the "Paris Hilton bill" by critics who described it as unwarranted interference by the Government. The bill was one of scores of measures vetoed by Schwarzenegger last week, after a state budget was finally approved after a record 85-day impasse. The Governor had over 800 bills to review in a matter of days. He said that he was only approving bills of the "highest priority for California" due to the curtailed signing period. (ANI)
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Last Updated ( Monday, 29 September 2008 )
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Written by ANI
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Saturday, 04 October 2008 |
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Washington, Oct 4 (ANI): Almost half of the Pakistanis, or 45 percent, think that the US military presence across the border in Afghanistan poses a threat to Pakistan. Only 17 percent said it was not a threat and more than a third, 38 percent of respondents, had no opinion or would not answer, according to a Gallup poll organized in June. The poll found that one in three of the respondents said the US relationship with Pakistan in President George W. Bush's campaign against terror mostly benefits America. Only 7 percent -- fewer than one in 10 -- said Pakistan benefits more. More than that, 10 percent said both sides get nothing from the partnership, Dawn reported. The findings were based on face-to-face interviews, in the first half of this year in Pakistan, with approximately 802 people. Pakistanis are leery of their government's anti-terror cooperation with the US even before President George W. Bush authorized American military action inside Pakistan without their government's approval, the poll said. Bush's July approval of US incursions across the Afghan-Pakistani border came to light after reports appeared about American operations, mainly comprising drone missile strikes at suspected Taliban or al-Qaida sites on Pakistani territory. US and Pakistani forces exchanged gunfire last Saturday for the first time. At least 12 Pakistanis were killed on Friday in two suspected US missile strikes against villages near the border with Afghanistan. Pakistani intelligence officials said most of the dead were militants. (ANI)
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Last Updated ( Saturday, 04 October 2008 )
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Written by ANI
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Thursday, 11 September 2008 |
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London, Sept 11 (ANI): The British Government's Health Protection Agency is urging people not to seek antibiotic treatment for cough and cold problems that are caused by viruses, warning that this may increasingly make bacteria resistant to drugs. The agency said that a step to over-the-counter antibiotics could make the problem worse, for doctors are running out of medications for potentially deadly infections. And rising resistance levels mean that some bugs are treatable only with antibiotics previously used as a 'last defence', the agency added. The number of potentially fatal E.coli blood poisoning cases, which are resistant to a 'last' antibiotic have tripled in the last six years, and now make up 12 per cent of all cases. In these cases, doctors are left able to use only less effective antibiotics, which can be toxic, and raises the prospect that a strain could become entirely resistant to antibiotics. Dr David Livermore, the agency's top scientist, warned that the problem posed a major public health threat. He suggested that patients should not request antibiotics from their GPs when they are simply suffering from a cough or a cold, for which the drugs are useless. "Most common cough and colds are caused by viruses and therefore patients should not be asking their doctor for an antibiotic," the Telegraph quoted him, as saying. "The doctor should also know that they are not necessary and the patient should know that they are not appropriate," he added. Livermore also said that there was a concern that providing an antibiotic over the counter could increase resistance. He also called for action to increase the amount of research into new antibiotics. (ANI)
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Last Updated ( Thursday, 11 September 2008 )
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