The LARP7 gene encodes a chaperone protein of the noncoding RNA 75 K, and mutations in this gene have been identified in patients with Alazami syndrome. Herein, we report another Japanese patient with Alazami syndrome and novel compound heterozygous variants in LARP7 (i.e., c.370delG, p.Glu124fs*38 and c.641_667+25del involving the splice donor site of intron 8). These findings provide further evidence that biallelic LARP7 defects cause the phenotype of Alazami syndrome.
Study Type – Therapy (case series) Level of Evidence 4 What’s known on the subject? and What does the study add? We have clarified that there exist two types of voiding urodynamics (pressure‐flow‐study) for congenital urethral obstruction in boys; one is synergic pattern (SP) and the other is dyssynergic pattern (DP). In terms of daytime incontinence and nocturnal enuresis, the transurethral endoscopic incision of these obstructive lesions is only effective in the SP type, while never effective in the DP type. The synergic pattern (SP) seems to represent simple anatomical obstruction, while the dyssynergic pattern (DP) may represent anatomical obstruction complicated with functional obstruction. The efficacy of endoscopic incision to mild forms of congenital urethral obstruction has been controversial, especially in terms of nocturnal enuresis. One of the reasons for the controversy is due to the lack of pre‐and post‐operative urodynamic assessment with its linkage to symptomatic change. We have, for the first time in the world, systematically conducted voiding urodynamic study for those elusive lesions seen in enuretic boys. Conclusively, for simple mechanical obstruction (SP), we confirmed that some voiding urodynamic parameters improve after the endoscopic incision, parallel to symptomatic improvement, while in the rest (DP) endoscopic incision is never effective. The cause of this ineffectiveness seemed to be due to persistent functional obstruction having superimposed on mechanical obstruction. The result of the study urges us to be more keen to diagnose and treat the mild congenial urethral obstruction as well as the concomitant functional obstruction in boys with nocturnal enuresis. OBJECTIVE • To evaluate the clinical significance of congenital obstructive lesions of the posterior urethra in boys with refractory primary nocturnal enuresis. PATIENTS AND METHODS • VCUG was performed in 43 consecutive boys who visited our department from April 2004 to April 2009 who were unresponsive to conservative treatment. 20 patients of the 43 patients, underwent TUI. VCUG and UDS were performed before and 3–4 months after TUI. • In UDS, the maximum flow rate (Qmax), maximum bladder capacity, and post‐voiding residual urine volume were determined using uroflowmetry (UFM), and the detrusor pressure (Pdet) at Qmax was determined in a pressure flow study (PFS). • Clinical outcome was evaluated 3–4 months and 6 months after TUI. RESULTS • In VCUG performed 3–4 months after TUI, improvement was observed in urethral morphology in all patients. In preoperative PFS, two patterns were observed: 13 patients (65%) had a synergic pattern (SP) in which the Pdet increased with increasing urinary flow rate simultaneously with the initiation of voiding and seven (35%) had a dyssynergic pattern (DP) in which the Pdet was not coincident with the initiation of voiding, but was higher immediately before voiding than at Qmax. TUI was effective only in the SP group: symptomatic improvement was observed in 87.5% of patients with daytime inc...
Study design: Analysis of answers to a new questionnaire. Objective: To examine current practice patterns of physicians in the urological surveillance and management of spinal cord injury (SCI) patients in Japan. Setting: Nationwide questionnaire survey to physicians in Japan. Methods: A Japanese version of the 14-item questionnaire survey carried out in US was mailed to 770 members of the Japanese Neurogenic Bladder Society (JNBS). Results: We received answers to our questionnaire from 333 (43.2%) members of JNBS. The responders were all urologists. The management of lower urinary tract (LUT) disorders is very important in order to prevent serious complications that may result in upper urinary tract (UUT) disorders such as hydronephrosis. There have been arguments as to the strategy of observation and therapeutic approaches in SCI patients. For improvement in life expectancy and quality, research and evidenced-based practices related to urinary tract dysfunction are requisite. Recently, results of questionnaires on the current practice patterns in urological surveillance and management of SCI patients were reported in the United States (US) and United Kingdom (UK).3,4 The present inquiry by questionnaire was performed on the current practice patterns of the physician (urologist) in urological management of SCI patients in Japan. Spinal Cord (2006) 44, 362-368 & 2006 International Spinal Cord Society All rights reserved 1362-4393/06 $30.00 www.nature.com/sc MethodsA Japanese version of the 14-item questionnaire (see Appendix A) with which a survey was carried out recently in the US 3 was mailed to 770 members of the Japanese Neurogenic Bladder Society (JNBS) in January 2004. The society consists of urologists, neurologists, pharmacologists, and others. More than 90% of the members of the society are urologists. The number of urologists of JNBS is approximately 10% of the total members of the Japan Urological Association (JUA), which is the only official society of urologists in Japan. We thought that almost all of the members of JNBS were engaged more routinely in urologic management of patients with SCI than those of any other nationwide academic medical society. Answers to the questionnaire returned to us by the deadline (within 1 month) were analyzed in this study. The first eight questions concern surveillance of the neuropathic bladder and bladder cancer due to spinal cord lesions, and the remaining questions deal with treatment modality and background of the respondents. The US and Japanese questionnaires were not identical, because Razden et al 3 did not publish details of their questionnaire. ResultsWe received a response to our questionnaire from 388 (50.3%) members of JNBS. In all, 55 members declined to answer our questions because they were not engaged in urological management of SCI patients. A total of 333 (43.2%) urologists out of the JNBS members replied to our questions. Some of them did not answer all questions in the questionnaire because of unknown reasons. In total, 314 (40.8%) urologists a...
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