190 resultados para Primary mutation
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Background: Ischaemic heart disease (IHD) is a complex disease due to the combination of environmental and genetic factors. Mutations in the MEF2A gene have recently been reported in patients with IHD. In particular, a 21 base pair deletion (Δ7aa) in the MEF2A gene was identified in a family with an autosomal dominant pattern of inheritance of IHD. We investigated this region of the MEF2A gene using an Irish family-based study, where affected individuals had early-onset IHD. Methods: A total of 1494 individuals from 580 families were included (800 discordant sib-pairs and 64 parent-child trios). The Δ7aa region of the MEF2A gene was investigated based on amplicon size. Results: The Δ7aa mutation was not detected in any individual. Variation in the number of CAG (glutamate) and CCG (proline) residues was detected in a nearby region. However, this was not found to be associated with IHD. Conclusion: The Δ7aa mutation was not detected in any individual within the study population and is unlikely to play a significant role in the development of IHD in Ireland. Using family-based tests of association the number of tri-nucleotide repeats in a nearby region of the MEF2A gene was not associated with IHD in our study group. © 2006 Horan et al; licensee BioMed Central Ltd.
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%0 per cent of antibiotic use in the community is for respiratory infection. this editorial considers wwh 8 out of 10 consultations for cough in general practice result inantibiotic prescribing
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Objective: to investigate the effects of tetrahydrocannabinol; THC on human sperm function in vitro. Design: laboratory analysis of sperm motility with and without exposure to THC using computer assisted semen analysis (CASA) and acrosome reaction by fluoroscein isothiocyanate labelled peanut agglutinin (FITC-PNA) staining. Setting: An ART unit in a tertiary medical centre. Patients: semen was obtained from 78 men attending the Regional Fertility Centre, Belfast. Interventions: Sperm were divided into 90% (the best fertilizing potential used in assisted conception) and 45% (the poorer subpopulation) fractions by density centrifugation and incubated with, or without (controls), tetrahydrocannabinol (THC) at concentrations equivalent to therapeutic (0.032Ã??Ã?¯?Ã??Ã?ÂM) and recreational (4.8 and 0.32Ã??Ã?¯?Ã??Ã?ÂM) plasma levels, at 37Ã??Ã?¯?Ã??Ã?°C for 3 hours. Main outcome measures: Sperm motility, spontaneous and induced acrosome reactions Results: There was a dose-dependent decrease in percentage progressive motility (-21% at 4.8Ã???Ã??Ã?µM, p0.05) in the 90% fraction. The 45% fraction showed a greater decrease in percentage progressive motility (-56% at 4.8Ã???Ã??Ã?µM, p=0.011; -23% at 0.32Ã???Ã??Ã?µM, p= 0.039; and -28% at 0.032Ã???Ã??Ã?µM, p=0.004). A decrease in the straight line velocity; VSL (-10%) and the average path velocity; VAP (-10%) were also observed in the 90% fraction. A significant inhibition (-15% at 4.8Ã???Ã??Ã?µM, p=0.04) in spontaneous acrosome reaction was observed in the 90% fraction. The 45% fraction showed a more marked inhibition [-35% (p
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Objectives: To assess primary health care professionalsâ?? ability to recognise child physical abuse within their everyday practice. Design: Cross-sectional survey Participants: A stratified random sample of 979 nurses, doctors, and dentists working in primary care in NI. Results: Four hundred and thirty one primary health care professionals responded [44% response rate]. Thirty two per cent were doctors, 35% were dentists and 33% were nurse professionals. The mean age was 41.63 years. Fifty-nine percent (251) stated that they had seen a suspicious case of child physical abuse and 47% (201) said they had reported it. Seventy-two per cent (310) of participants were aware of the mechanisms for reporting child physical abuse. Ability and willingness to recognise and report abuse discriminated the three professions. Conclusions: The findings suggest a professional reluctance to engage in recognising and reporting abuse. Barriers could be reduced by providing training and professional support for the primary care professionals.