Best practice guidelines for the molecular genetic diagnosis of Type 1 (HFE-related) hereditary haemochromatosis. (1/28)

BACKGROUND: Hereditary haemochromatosis (HH) is a recessively-inherited disorder of iron over-absorption prevalent in Caucasian populations. Affected individuals for Type 1 HH are usually either homozygous for a cysteine to tyrosine amino acid substitution at position 282 (C282Y) of the HFE gene, or compound heterozygotes for C282Y and for a histidine to aspartic acid change at position 63 (H63D). Molecular genetic testing for these two mutations has become widespread in recent years. With diverse testing methods and reporting practices in use, there was a clear need for agreed guidelines for haemochromatosis genetic testing. The UK Clinical Molecular Genetics Society has elaborated a consensus process for the development of disease-specific best practice guidelines for genetic testing. METHODS: A survey of current practice in the molecular diagnosis of haemochromatosis was conducted. Based on the results of this survey, draft guidelines were prepared using the template developed by UK Clinical Molecular Genetics Society. A workshop was held to develop the draft into a consensus document. The consensus document was then posted on the Clinical Molecular Genetics Society website for broader consultation and amendment. RESULTS: Consensus or near-consensus was achieved on all points in the draft guidelines. The consensus and consultation processes worked well, and outstanding issues were documented in an appendix to the guidelines. CONCLUSION: An agreed set of best practice guidelines were developed for diagnostic, predictive and carrier testing for hereditary haemochromatosis and for reporting the results of such testing.  (+info)

Rift Valley fever virus lacking NSm proteins retains high virulence in vivo and may provide a model of human delayed onset neurologic disease. (2/28)

Rift Valley fever virus is a significant human and veterinary pathogen responsible for explosive outbreaks throughout Africa and the Arabian Peninsula. Severe acute disease in humans includes rapid onset hepatic disease and hemorrhagic fever or delayed onset encephalitis. A highly efficient reverse genetics system was developed which allowed generation of recombinant RVF viruses to assess the role of NSm protein in virulence in a rat model in which wild-type RVF virus strain ZH501 (wt-ZH501) results in 100% lethal hepatic disease 2-3 days post infection. While extensive genomic analysis indicates conservation of the NSm coding capability of diverse RVF viruses, and viruses deficient in NSs proteins are completely attenuated in vivo, comparison of wt-ZH501, a reverse genetics generated wt-ZH501 virus (R-ZH501), and R-ZH501 virus lacking the NSm proteins (R-DeltaNSm-ZH501) demonstrated that the NSm proteins were nonessential for in vivo virulence and lethality. Surprisingly, while 44% of R-DeltaNSm-ZH501 infected animals quickly developed lethal hepatic disease similar to wt- and R-ZH501, 17% developed delayed onset neurologic disease (lethargy, head tremors, and ataxia) at 13 days post infection. Such infections may provide the basis for study of both RVF acute hepatic disease and delayed onset encephalitic disease in humans.  (+info)

Neuroanatomical correlates of neuropsychiatric symptoms in Alzheimer's disease. (3/28)

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Maternal depression and neurobehavior in newborns prenatally exposed to methamphetamine. (4/28)

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Topiramate and adrenocorticotropic hormone (ACTH) as initial treatment for infantile spasms. (5/28)

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Sequential docetaxel as adjuvant chemotherapy for early breast cancer (TACT): an open-label, phase III, randomised controlled trial. (6/28)

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Idiopathic lesions and visual deficits in the american lobster (Homarus americanus) from Long Island Sound, NY. (7/28)

In 1999, a mass mortality of the American lobster (Homarus americanus) occurred in western Long Island Sound (WLIS). Although the etiology of this event remains unknown, bottom water temperature, hypoxia, heavy metal poisoning, and pesticides are potential causal factors. Lobsters from WLIS continue to display signs of morbidity, including lethargy and cloudy grey eyes that contain idiopathic lesions. As the effect of these lesions on lobster vision is unknown, we used electroretinography (ERG) to document changes in visual function in lobsters from WLIS, while using histology to quantify the extent of physical damage. Seventy-three percent of lobsters from WLIS showed damage to photoreceptors and optic nerve fibers, including necrosis, cellular breakdown, and hemocyte infiltration in the optic nerves, rhabdoms, and ommatidia. Animals with more than 15% of their photoreceptors exhibiting damage also displayed markedly reduced responses to 10-ms flashes of a broad-spectrum white light. Specifically, maximum voltage (Vmax) responses were significantly lower and occurred at a lower light intensity compared to responses from lobsters lacking idiopathic lesions. Nearly a decade after the 1999 mortality event, lobsters from WLIS still appear to be subjected to a stressor of unknown etiology that causes significant functional damage to the eyes.  (+info)

Prenatal methadone exposure and neonatal neurobehavioral functioning. (8/28)

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