In a collaborative effort, researchers from Boston University School of Medicine (BUSM) have discovered that deletions or mutations within the TFAP2A gene (Activating Enhancer-Binding Protein) result in the distinctive clefting disorder Branchio-Oculo-Facial syndrome (BOFS).

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Shaken Baby Syndrome (SBS), also known as childhood neurotrauma or inflicted traumatic brain injury, is the leading cause of death from childhood maltreatment. Unlike many types of child abuse, the action that causes SBS is known, occurs quickly, and is, theoretically, largely preventable. An international symposium sponsored by the National Center on Shaken Baby Syndrome examined how to establish the incidence of inflicted traumatic brain injury in young children and explored issues of definitions, passive versus active surveillance, study designs, proxy measures, statistical issues and prevention. Key findings are published in a Special Supplement to the April 2008 issue of the American Journal of Preventive Medicine.

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People with a certain low level of tear production are more likely to develop chronic dry eye syndrome after LASIK (laser-assisted in situ keratomileusis), laser refractive surgery to correct near- and far-sightedness than those with more plentiful tears,a research at Schepens Eye Research Institute which was published in the January issue of Investigative Ophthalmology and Vision Science, may offer reliable prescreening criteria for ophthalmologists and patients.

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Scientists have identified a fusion protein that may contribute to Cockayne syndrome, a devastating disease characterized by developmental defects, neurodegeneration, severe wasting, and premature aging.

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Scientists have made another major breakthrough–the second in the past year–in understanding a rare immune disorder called Job’s syndrome. Job’s syndrome is characterized by recurrent and often severe bacterial and fungal infections leading to outbreaks of abscesses and boils. Other symptoms of the disease include lung infections, problems in facial and dental development, curved spine and high risk of bone fractures. While individuals with Job’s syndrome often have normal life spans with intensive medical supervision, life-threatening complications from infections are a constant concern.

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Researchers at Perth’s Telethon Institute for Child Health Research have found that girls and young women with Rett syndrome are nearly four times more likely to suffer a fracture.

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