The Kobe journal of medical sciences
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Ornithine transcarbamylase (OTC) deficiency is the most common inborn error of the urea cycle. Although a combination of molecular methods have been used including DNA sequencing of all 10 exons and exon-intron boundaries of OTC gene, only approximately 80% of patients with OTC deficiency are found to have mutations. We report two known and three novel mutations of the OTC gene in five Japanese patients including two neonatal-onset, one late-onset, and two symptomatic female patients. ⋯ Thereby, a 135-nt exon was created from the central part of an intron sequence. This is the first report of mutation deep in the intronic sequence in the OTC gene. Molecular analysis using genomic DNA and mRNA will increase the mutation detection ratio in the OTC gene.
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INTRODUCTION For the assessment on medical response capacity for disaster in local area (such as rescue capacity, transport capacity and treatment capacity), it is necessary to assess it in peace time, and understand how many sufferers from disaster the hospital can respond to. Here the estimated formula of Hospital Treatment Capacity (hereinafter shortened to HTC), the maximum receivable number of patients in hospital (hereinafter shortened to MRN) was showed, which derived from the assessment on emergency medical response in Kobe University Hospital as an example. ⋯ Beside, the occupation of emergency room and the operation room per hour were also investigated in our hospital. RESULTS HTC (MRN) for each clinical condition within H hours is expressed by following formula: (1) HTC (MRN) for burn injuries = The maximum integer of (< or =Doctors/2 intersection< or =Respirators/1 intersection< or =outpatient beds/1 intersection
or =H/1.85) (2) HTC (MRN) for patients with blood purification = The maximum integer of (< or =doctors/2 intersection< or = blood purification systems/1 intersection< or = outpatient beds/1 intersection < or =inpatient beds/1 intersection< or =monitors/1) x the minimum integer of (> or =H/2.00) (3) HTC (MRN) for severe traumas =The maximum integer of (< or =doctors-a/2 intersection< or =surgeons/1 intersection< or =anesthetists/1 intersection< or =radiologists/1 intersection< or =respirators/1 intersection < or =outpatient beds/1 intersection< or =inpatient beds/1 intersection< or =monitors/1 intersection< or =operation rooms/1 intersection < or =angiography rooms/1) x the minimum integer of (> or =H/2.82+b) CONCLUSION The treatment capacity within local area is able to be assessed by adopting the estimated formula of HTC (MRN).