The Kobe journal of medical sciences
-
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.
-
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). -
Randomized Controlled Trial Comparative Study
Comparison of sagittal plane realignment and reduction with posterior instrumentation in developmental low or high dysplastic spondylolisthesis.
In situ fusion is the gold standard method of treatment of spondylolisthesis. There is no study in the literature evaluating the effect of sagittal contour realignment on clinical outcomes in comparison with the addition of anterior slippage reduction. ⋯ A high percentage of fusion was achieved with posterolateral in situ fusion with or without reduction; and an additional reduction procedure did not have a statistically detectable impact on clinical outcomes. Successful fusion and neural decompression were the most important parameters that have an impact on clinical outcomes in patients with developmental spondylolisthesis, irrespective of the extent of preoperative displacement and the type of listhesis.
-
Comparative Study
Comparison of anterior instrumentation systems and the results of minimum 5 years follow-up in the treatment of tuberculosis spondylitis.
Anterior debridement, strut grafting and instrumentation have an increasing popularity in the treatment of tuberculosis of spine. Anterior fixation can be done either by a plate or a rod system. This study reports on the surgical results of 59 patients with Pott's disease that had anterior radical debridement and anterior fusion and anterior instrumentation with 5 years follow-up. ⋯ It was concluded that anterior instrumentation is a safe and effective method in the treatment of tuberculosis spondylitis. There were no significant differences between the two instrumentation systems in terms of sagittal alignment reconstruction and fusion rate. In rod-screw systems, the disadvantages of scoliotic deformity correction through frontal plan in plate performing did not occur and it is though to have the advantage of long instrumentation in multiple level deformities.
-
Paraclinoid internal carotid artery aneurysms are difficult to treat and difficult to visualize by using DSA, MRA, or surface-rendered 3D-CTA. Because those aneurysms are surrounded by bone, the dural ring (proximal and distal), the optic nerve, the oculomotor nerve, and the cavernous sinus. This report represents the first attempt to assess the verification of volume-rendered 3D-CTA for surgical planning in treating paraclinoid internal carotid artery aneurysms. ⋯ When the pterional approach is used and the neck of the aneurysm is found to be remote from the anterior clinoid process, the anterior clinoid process need not be removed. In conclusion, for paraclinoid internal carotid artery aneurysms, volume-rendered 3D-CTA is superior to surface-rendered 3D-CTA, MRA and digital subtraction angiography in terms of visualization of the aneurysm and surrounding bones. It was great help for surgical planning in treating paraclinoid internal carotid artery aneurysms.