Munchausen syndrome by proxy: A family affair

Munchausen syndrome by proxy is an unusual form of child abuse: a child presents with an illness that has been factitiously produced by a parent, typically the mother. A case of chronic illicit insulin administration to a one-year-old girl is described. Despite temporary separation of the child from the mother and long-term psychiatric intervention, factitious illnesses continued, including urine specimen contamination, laxative-induced diarrhea, suspected bladder catheterization, and suspected poisoning. Retrospective review of the medical records of the mother and two siblings demonstrated previously unrecognized evidence of factitious illnesses. The medical records contained evidence of 30 separate episodes of suspected or documented factitious illness in these four members of the same family. This unique family illustrates the significant morbidity of Munchausen syndrome by proxy and a poor response to psychiatric treatment.     

The education of learners with CHARGE syndrome

CHARGE syndrome, although a low incidence condition, is now recognised as a leading cause of congenital deafblindness among genetic conditions. Anecdotal reporting has suggested that learners with CHARGE syndrome are distinct from the wider deafblind population. This study investigates the education of learners with CHARGE syndrome, while also examining what the similarities and differences might be between this group of learners and the wider deafblind population. The findings of this study support the identification of potential learning characteristics of individuals with CHARGE syndrome, and also indicate that educational deafblind practice is applicable for this group of learners, although alternative or additional strategies may be required. Both commonalities and distinctions were found, but it was concluded that educationally there may be something unique and distinct in learners with this condition.     

Visceral and somatic hypersensitivity,autonomic cardiovascular dysfunction and low-grade inflammation in a subset of irritable bowel syndrome patients

The pathophysiology of irritable bowel syndrome (IBS) is complex and not fully understood, so the aim of this study was to evaluate whether visceral and somatic hypersensitivity, autonomic cardiovascular dysfunction, and low-grade inflammation of the gut wall are associated with diarrhea-predominant IBS (D-IBS). Sixty-two patients with D-IBS and 20 control subjects participated in the study. Using the ascending method of limits (AML) protocol, we demonstrated that D-IBS patients had significantly lower sensory thresholds compared with healthy controls (P<0.001). Using diverse methods, especially the ischemic sensitivity test, for the first time in China, we confirmed that D-IBS patients have somatic hypersensitivity. They had a significantly higher systolic blood pressure and heart rate after a cold stimulus, indicative of autonomic cardiovascular dysfunction. Compared with the control group, D-IBS patients had a significantly higher level of calprotectin (P<0.001). We also found significant correlations between visceral and somatic hypersensitivity, visceral hypersensitivity and autonomic cardiovascular dysfunction, and somatic hypersensitivity and autonomic cardiovascular dysfunction. Our findings may provide valuable suggestions for the treatment of D-IBS.     

Two unrelated patients with rare Crigler-Najjar syndrome type I: two novel mutations and a patient with loss of heterozygosity of UGT1A1 gene

Crigler-Najjar syndrome type I (CN-I) is the most severe type of hereditary unconjugated hyperbilirubinemia. It is caused by homozygous or compound heterozygous mutations of the UDP-glycuronosyltransferase gene (UGT1A1) on chromosome 2q37. Two patients clinically diagnosed with CN-I were examined in this paper. We sequenced five exons and their flanking sequences, specifically the promoter region of UGT1A1, of the two patients and their parents. Quantitative real-time polymerase chain reaction (qRT-PCR) was used to determine the UGT1A1 gene copy number of one patient. In patient A, two mutations, c.239_245delCTGTGCC (p.Pro80HisfsX6; had not been reported previously) and c.1156G>T (p.Val386Phe), were identified. In patient B, we found that this patient had lost heterozygosity of the UGT1A1 gene by inheriting a deletion of one allele, and had a novel mutation c.1253delT (p.Met418ArgfsX5) in the other allele. In summary, we detected three UGT1A1 mutations in two CN-I patients: c.239_245delCTGTGCC (p.Pro80HisfsX6), c.1253delT (p.Met418ArgfsX5), and c.1156G>T (p.Val386Phe). The former two mutations are pathogenic; however, the pathogenic mechanism of c.1156G>T (p.Val386Phe) is unknown.     

腰椎失稳症手术治疗的研究现状

腰椎失稳症是脊柱外科的常见病和多发病,它主要包括峡部裂性腰椎滑脱症（isthmic spondylolisthesis,ISS）和退变性腰椎滑脱症（degenerative spondylolisthesis,DSS）两种类型,后者又被称为非峡部裂性腰椎滑脱症。此类患者通过手术治疗,能够恢复椎间高度和腰椎生理前凸、重建脊柱的力学稳定,从而达到临床治愈或缓解,是获得临床远期疗效的关键。王岩[1]认为脊柱融合术具有防止内植物失败和维持长期疗效等优点,是目前公认的治疗脊柱疾患的金标准。文章旨在总结腰椎失稳症手术治疗有关文献,探讨各种术式的利弊,为临床提供有益参考。     

长跑运动中骨筋膜室综合征的防治与研究

采用跟踪观察、问卷调查和访谈等方法,对浙江省3526名大学生长跑运动员在长跑运动训练中,引起小腿筋膜室综合征的原因、原理及防治方法进行分析与研究。结果表明：患骨筋膜室综合征者5例,其中4例、采用制动,局部冷敷,抬高肢体及合理的处理,愈后功能均恢复良好,较为严重的1例,经医院手术切开行筋膜间隙后,愈合无后遗症。     

体力活动与代谢健康

通过对《2008美国体力活动指南》的研究文章进行归纳分析,综述了体力活动在代谢综合症、Ⅰ型和Ⅱ型糖尿病、糖尿病的心血管危险因素、糖尿痛微血管并发症、糖尿病肾病和妊娠糖尿病等6方面的预防和治疗作用。同时。也分析和讨论体力活动对防治不同代谢疾病的量效反应,以及体力活动的安全性问题。明确体力活动在预防和治疗代谢综合症和Ⅱ型糖尿病方面所起的关键性作用。     

难美表现类项目动作失忆现象的机制及其心理特征

运动失忆现象（Lost Move Syndrome）被定义为运动员一种失去身体位置知觉、特定技能动作的技术意识知觉的心理状况。此现象大多出现在体操、蹦床、跳水等动作复杂、难度高的项目中。这一现象的发生机制尚未清楚,重点综述和探讨了国外学者提出的意识控制破坏动作自动化假设、动作图式遭到破坏假设、动机压抑假设、缺乏社会支持...     

运动员发生预激综合症的观察和思考

根据运动员发生预激综合症以及预激综合症并发心律失常的心电图特征。分析预激综合症在正常运动员的心脏中发生,是否具有危险性以及危险性的大小。结果显示:预激综合症发生在运动员心脏中多有其解剖基础,现役或退役运动员均有发生,多见于耐力项目者。作者认为该病发生可能与窦性心动过缓,运动中要求心输出量迅速增加等因素相关是运动员心脏适应性的变化之一,但不能否定病理性改变;预激综合症并发症中常见快速型心律失常,属危、重症,必须立即停止运动,需医疗手段干涉。有无伴发快速型心律失常者均需跟踪观察。