Two-year-old world's first to have extra DNA strand

Wednesday, April 13, 20110 comments

Two-year-old world's first to have extra DNA strand

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Two-year-old world's first to have extra DNA strand

Posted: 13 Apr 2011 04:11 PM PDT

( From http://www.rxpgnews.com ) A British toddler has become the first person in the world to be diagnosed with an extra strand in his DNA. Two-year-old Alfie Clamp from Nuneaton in Warkwickshire was born blind and with severe disabilities, which led doctors to carry out various tests. They found out that his seventh chromosome had an 'extra arm' which has never been documented anywhere in the world before, according to the Daily Mail. Doctors were baffled at his condition, which is so rare it does not have a name. They also do not have no idea whether the medical condition will improve or reduce the boy's life span. His parents, Gemma and Richard Clamp, only discovered something was wrong with their son after they first took him home. A few days later he stopped breathing and his lips turned blue and had to be rushed back to hospital. Doctors discovered he had a rare abnormality in his DNA only when he was six weeks old. His condition left Alfie unable to see until he was three months old. He still suffers from digestive problems and needs to take many medicines every day to help his body absorb vital nutrients. The Clamps, who also have a 10-year-old daughter, who is perfectly healthy, had their DNA tested but were not found to be carriers of the different strand.

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Psychologists blame social apathy for sisters' locked-in stay

Posted: 12 Apr 2011 10:36 PM PDT

( From http://www.rxpgnews.com ) New Delhi, April 12 - It could be social apathy towards mental health that leads to situations like in Noida where two sisters remained locked up in their house for seven months while the neighbourhood failed to realise the gravity of their pain, psychologists said. 'There is so much stigma attached to mental health in the society that people don't come out to help those in need,' city based psychologist Monica kumar told IANS Tuesday. Anuradha Behl, 42, and her sister Sonali Behl, 38, who locked themselves up at their Noida home for seven months after falling into deep depression following the death of their father two years ago, were rescued Tuesday when police broke open the door of their house and brought them out. There is acute lack of awareness about the ways to help such people who move away into isolation, Kumar said. Instead of abandoning people suffering from similar mental condition, they should be given proper psychological counselling and care and be involved in community activities, said the expert. Psychologists are, however, uncertain about what caused the sisters to take such an extreme step. 'It is difficult to say the exact reason because of which they locked themselves up,' psychiatrist Samir Parikh said, adding, 'Right now these people need help and care before it can be evaluated as to why it happened.' According to Kumar, the role of neighbourhood could be questioned. 'If the police failed to take any action initially, people should have moved to a magistrate to get them rescued,' she said, referring to the long period of locked-up isolation that the sisters chose.

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Psychologists closing in on causes of claustrophobic fear

Posted: 12 Apr 2011 05:00 AM PDT

( From http://www.rxpgnews.com ) We all move around in a protective bubble of near space, more commonly known as personal space. But not everyone's bubble is the same size. People who project their personal space too far beyond their bodies, or the norm of arm's reach, are more likely to experience claustrophobic fear, a new study finds. The study, to be published in the journal Cognition, is one of the first to focus on the perceptual mechanisms of claustrophobic fear. We've found that people who are higher in claustrophobic fear have an exaggerated sense of the near space surrounding them, says Emory psychologist Stella Lourenco, who led the research. At this point, we don't know whether it's the distortion in spatial perception that leads to the fear, or vice versa. Both possibilities are likely. Everyone experiences claustrophobic fear to some extent, but there is a wide range of individual differences. About 4 percent of people are estimated to suffer from full-blown claustrophobia, which can cause them to have panic attacks when traveling through a tunnel or riding in an elevator. Some people seek medical treatment for the condition. Increasing our understanding of the factors that contribute to claustrophobia may help clinicians develop more effective therapies for what can be a highly debilitating fear, says Matthew Longo, one of the study's co-authors and a psychologist at Birkbeck, University of London. Claustrophobia is often associated with a traumatic experience, such as getting stuck in an elevator for a long period. However, we know that some people who experience traumatic events in restricted spaces don't develop full-blown claustrophobia, Lourenco says. That led us to ask whether other factors might be involved. Our results show a clear relation between claustrophobic fear and basic aspects of spatial perception. Neural and behavioral evidence shows that we treat space that is within arm's reach differently from space that is farther...

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Kojiro Irikura to be honored by seismology consortium at SSA annual meeting

Posted: 12 Apr 2011 05:00 AM PDT

( From http://www.rxpgnews.com ) San Francisco, April 12, 2011 Kojiro Irikura has made an enormous contribution to the analysis and sharing of strong-motion earthquake data throughout his career in Japan. For his work, Irikura will be honored with the Bruce A. Bolt Medal at the Seismological Society of America's annual meeting to be held April 13-15 in Memphis, Tennessee. The Bruce A. Bolt Medal recognizes individuals who use strong-motion earthquake data and transfer scientific and engineering knowledge into practice or policy for improved seismic safety. The honor is a joint award given by the Consortium of Organizations for Strong-Motion Observation Systems, the Earthquake Engineering Research Institute and the Seismological Society of America. During his career at the Disaster Prevention Research Institute of Kyoto University, Irikura, authored nearly 200 publications, supervised more than 30 students in advanced degrees and became a fixture at international conferences and meetings. For the past decade, he has also served as a member of the national committees that decide on steps to be taken to mitigate the effects of earthquakes in Japan. Those decisions often trickle down to other countries wrestling with mitigating earthquake risk. The two best networks in the world for recording strong motions (K-NET and KiK-net) are both in Japan. Irikura's leadership in the construction and operation of the CEORKA (Committee of Earthquake Observation and Research in the Kansai Area) network was the impetus for both. The CEORKA network was deployed just in time to record the 1995 Kobe earthquake. Within one and a half years of the Kobe earthquake, the National Research Institute for Earth Science and Disaster Prevention (NIED) deployed the K-NET (Kyoshin Net). NIED freely distributed the data on the Internet as was the policy of CEORKA, and Irikura was behind this decision. This helped create the culture of sharing that has characterized Japanese seismological...

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Loss of cell adhesion protein drives esophageal and oral cancers in mice

Posted: 12 Apr 2011 05:00 AM PDT

( From http://www.rxpgnews.com ) PHILADELPHIA - Squamous cell cancers of the oral cavity and esophagus are common throughout the world, with over 650,000 cases of oral cancer each year and esophageal cancer representing the sixth most common cause of cancer death in men. Research by University of Pennsylvania School of Medicine investigators has shown that a protein that helps cells stick together is frequently absent or out of place in these cancers, but it's unclear if its loss causes the tumors. The investigators report that mice engineered to lack this protein, called p120-catenin (p120ctn), in the oral-upper digestive tract develop squamous cell cancers. The data, reported Cancer Cell, settle a 20-year debate and prove that p120ctn is a tumor-suppressor protein. What's more, the tumors that form in this mouse model closely resemble human disease and may point the way to novel therapies and early detection strategies. As the mice aged, what we saw was a dramatic evolution of precancer to cancer, says senior author Anil K. Rustgi, MD, the T. Grier Miller Professor of Medicine and Genetics and chief of Gastroenterology. Both the precancerous growth, called dysplasia, and the cancer look exactly like what we see in humans. This is really exciting because it supports efforts for prevention and early detection, especially in people who drink alcohol and smoke cigarettes excessively and are at high risk for the disease in many regions of the world. In healthy tissues, p120ctn is part of a protein complex that holds epithelial cells in tightly packed sheets. When p120ctn (or another of these cell adhesion proteins) is lost, a wide variety of cancers including those in prostate, breast, pancreas, colon, skin, bladder, and the endometrium, can result. The cells lose their tight cell-cell contacts and can migrate more easily, which likely favors cancer spread and invasion of new cells. However, earlier attempts to test the effects of p120ctn loss on cancer...

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No superbug, Delhi's water safe, says government

Posted: 11 Apr 2011 08:34 PM PDT

( From http://www.rxpgnews.com ) New Delhi, April 11 - The Delhi government Monday asserted that the city's drinking water is safe and debunked the study in the British journal Lancet that claimed presence of a superbug in New Delhi water. The government also rejected the author's claims that truth was being suppressed. 'Please don't spread panic when there is no panic. The Municipal Corporation of Delhi - has been saying, and I think Delhi Jal Board - has said that this is not so and water is safe for drinking,' Delhi Chief Minister Shiela Dikshit told reporters here. The study, published in Lancet last week, said the New Delhi metallo-beta-lactamase - gene, which makes bacteria resistant to an array of antibiotics, including the most powerful ones, has been found in open water pools, water from overflowing sewage and even a couple of drinking water samples in the Indian capital. Ramesh Negi, the CEO of Delhi Jal Board that supplies water to much of the city, said: 'We are testing the water as per the Bureau of India Standard - standards. Delhi's water is safe for drinking, and quoting the same - study, it says chances of this bacteria growing in this water is very less.' The study, published last week in the prestigious medical journal, was promptly rejected by the government and medical experts in India. The article's co-author Mark Toleman accused the government of 'suppressing the truth'. 'We have rejected it and we still reject it,' India's Director General Health Service R.K. Srivastava told IANS. However, he added that a final statement can be made only after the research wing of the health ministry, Department of Health Research and the Indian Council of Medical Research - completes its study. 'The research wing will examine everything, the protocol and the method of research, all will be examined and only after that a final statement can be given by the concerned authorities,' Srivastava said. Toleman alleged that the Indian government was...

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Ulterior motive behind Lancet allegation: Expert

Posted: 11 Apr 2011 08:12 PM PDT

( From http://www.rxpgnews.com ) New Delhi, April 11 - A leading health expert Monday said international health journal Lancet may have an ulterior motive behind its accusation that the Indian government was 'suppressing truth' about drug resistant bacteria in Delhi's water system. Raising concerns about the methodology of the study, renowned cardiologist Devi Shetty said: 'I believe it is done and published with some ulterior motives. I could have understood if they have studied it in the US, Europe and Asia. We should ask World Health Organisation - to conduct an independent study.' The study, published in the British journal last week, said the New Delhi metallo-beta-lactamase - gene, which makes bacteria resistant to an array of antibiotics, including the most powerful ones, has been found in open water pools, water from overflowing sewage and even a couple of drinking water samples in the Indian capital. The union health ministry has said there is no major health threat by the presence of a multi-drug resistant bacteria in Delhi's environment Shetty said: 'If there is any country which doesn't interfere with the scientific community it is India. I have worked closely with the health ministry and it is a very open kind of environment which does not involve itself with any scientific community. I am surprised that they - have accused our government of intimidating our scientists,' he said. 'I would like to know how many sewage water samples from the US and Europe were tested for presence of multi-drug resistant bacteria,' he added. Former Indian Medical Association vice president Ajay Kumar Singh also called for an independent inquiry. 'The Lancet study saying that this bacteria was responsible for different diseases all over the world is absolutely wrong. The matter needs to be investigated by an independent agency,' Singh said. Days after the health ministry rejected the study on the presence of the superbug in Delhi's environment, study co-author...

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Pharmacogenetics testing offers way to reduce deaths from drug toxicity

Posted: 11 Apr 2011 05:00 AM PDT

( From http://www.rxpgnews.com ) On average, a drug on the market works effectively for only 50% of the people who take it. Would you want to prevent a potential adverse drug effect or even toxicity through a simple test? It's not science fiction, but a reality. Pharmacogenetics (PGx) is the study of an individual's variation in DNA sequence related to drug response. The goal is to select the right drug at the right dose, and to avoid adverse drug reactions or ineffective treatment. Dr. Tara Sander, Associate Professor of Pathology, Pediatric Pathology, Medical College of Wisconsin, and Scientific Director of Molecular Diagnostics, Children's Hospital of Wisconsin, is first author of a poster to be presented at Experimental Biology 2011 in Washington, DC, on Monday, April 11, in an American Society for Investigative Pathology session on Better Research Through BioOmics. She led a study that aimed to develop a PGx test for forensics. The PGx test can be used on a living or deceased person; in cases of death, the test can help identify whether the drug toxicity was due to the person's genotype and therefore provide forensic evidence that supplements medical history, scene investigation, autopsy, and toxicology for death certification. Sander and colleagues looked at specific genetic variants to see if the selected assays detected the correct genotype in the samples. The results showed that ABI TaqMan Drug Metabolism Genotyping and Copy Number Variant assays detected the correct genotype in 52 of 54 samples with 96% accuracy. Sander's clinical test refers to the promise of Personalized Medicine, a term used frequently by former NIH Director Elias Zerhouni to define the use of information about an individual patient to select or optimize their medical care. More recently, the term Personalized Justice has been defined as using genotypic information to complement Personalized Medicine and to help explain drug-related toxicity, sensitivity, impaired performance,...

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Actions and personality, east and west

Posted: 11 Apr 2011 05:00 AM PDT

( From http://www.rxpgnews.com ) People in different cultures make different assumptions about the people around them, according to an upcoming study published in Psychological Science, a journal of the Association for Psychological Science. The researchers studied the brain waves of people with Caucasian and Asian backgrounds and found that cultural differences in how we think about other people are embedded deep in our minds. Cultural differences are evident very deep in the brain, challenging a commonsense notion that culture is skin deep. For decades, psychologists believed that it's natural for humans to see behaviors and automatically link them to personality. For example, when you see somebody giving a seat to an old man in a train, you might jump to the conclusion that that person is very nice and kind, says Shinobu Kitayama, of the University of Michigan. He co wrote the new study with Jinkyung Na. But the behavior may be motivated by some other things. For example, maybe his boss at work may be in that same train, or there might be very strong social norms that led to the younger man giving up his seat. Past research has found that Americans are more likely to assume the person is nice, while Asians are more likely to consider social factors. Psychologists explained this by saying that making the assumption about personality is automatic; everybody does it, but Asians continue on from there, taking the second step of considering social factors. But Kitayama and Na found differently. In their study, they had European-American and Asian-American students do an exercise in which they were told to memorize faces and behaviors. For example, they might see a woman's face and read that Julie checks the fire alarms every night before bed. In a second phase of the experiment, the researchers found evidence that European-Americans had made an inference about Julie's personality during the first memory task, while Asian-Americans had not. One way they did...

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