Prader–Willi syndrome in Taiwan

BACKGROUND: Prader-Willi syndrome (PWS) is a congenital disorder caused by absent expression of paternal genes in 15q11-13 affecting multiple systems. The information concerning the clinical features of this genetic disorder is incomplete in Taiwan. METHODS: A retrospective analysis was carried out of 70 PWS patients (39 male, 31 females; age range, 1 month-22 years) seen in four major medical centers in Taiwan from January 1980 through June 2005. All cases were confirmed by methylation-specific polymerase chain reaction. The molecular characteristics, birth history, clinical presentation and laboratory studies were analyzed. RESULTS: Complete genetic analysis was performed in 52 of the 70 patients with PWS. The abnormalities found included deletions in 45 (87%), maternal uniparental disomy (UPD) in five (10%), and a probable imprinting center deletion or an imprinting defect in two (4%). The average weight of the patients at birth was 2588 +/- 540 g. Bone age delay of >2 years and growth hormone (GH) deficiency were noted in 11/40 (28%) and 12/20 (60%), respectively. In the 18 in whom both bone age and GH were assessed, abnormalities of both were found in two (11%). In 2000, Taiwan instituted the Rare Diseases and Orphan Drugs Act and mandated a three-phase screening protocol for PWS. Of the 41 patients diagnosed with PWS before 2000, only four (10%) were diagnosed before the age of 3 months; in the 29 patients diagnosed after 2000, in 15 (52%) the syndrome was confirmed before 3 months of age (P < 0.001). CONCLUSIONS: The present finding is in contrast to that of most previous reports that indicated a higher incidence of UPD in PWS. It is unclear whether this discrepancy in the incidence of UPD arises from under-diagnosis or because of ethnic differences, a question worthy of further study. The three-phase screening protocol has generated notable improvement in the early diagnosis of PWS in Taiwan.     

苯系物对接触女工生殖内分泌的影响

目的 :探讨苯系物对接触女工生殖内分泌激素的影响。方法 :调查对象按月经周期的不同时相 ,即月经期、增殖期、排卵期、分泌期各抽血一次 ,采用放射免疫法测定性激素。结果 :苯系物对接触女工月经周期中的LH平均含量有抑制作用 ,对月经周期的不同时相内性激素进行比较 ,增殖期E2 接触组显著低于对照组 ,t =2 83(P <0 0 1) ,分泌期LH含量接触组显著低于对照组t=2 81(P <0 0 1)。而月经周期内FSH、P两组间差异无统计学意义。结论 :接触苯系物对女工血清中的部分性激素具有抑制作用。     

Regulation of GLUT4 protein and glycogen synthase during muscle glycogen synthesis after exercise

The pattern of muscle glycogen synthesis following its depletion by exercise is biphasic. Initially, there is a rapid, insulin independent increase in the muscle glycogen stores. This is then followed by a slower insulin dependent rate of synthesis. Contributing to the rapid phase of glycogen synthesis is an increase in muscle cell membrane permeability to glucose, which serves to increase the intracellular concentration of glucose-6-phosphate (G6P) and activate glycogen synthase. Stimulation of glucose transport by muscle contraction as well as insulin is largely mediated by translocation of the glucose transporter isoform GLUT4 from intracellular sites to the plasma membrane. Thus, the increase in membrane permeability to glucose following exercise most likely reflects an increase in GLUT4 protein associated with the plasma membrane. This insulin-like effect on muscle glucose transport induced by muscle contraction, however, reverses rapidly after exercise is stopped. As this direct effect on transport is lost, it is replaced by a marked increase in the sensitivity of muscle glucose transport and glycogen synthesis to insulin. Thus, the second phase of glycogen synthesis appears to be related to an increased muscle insulin sensitivity. Although the cellular modifications responsible for the increase in insulin sensitivity are unknown, it apparently helps maintain an increased number of GLUT4 transporters associated with the plasma membrane once the contraction-stimulated effect on translocation has reversed. It is also possible that an increase in GLUT4 protein expression plays a role during the insulin dependent phase.     

意识障碍患者发生鼻蝇蛆病1例及文献复习

鼻蝇蛆病是一种较为罕见的寄生虫病,蝇蛆在鼻腔内生长对鼻腔、鼻窦造成损伤,一旦移行,会导致眼、颅腔等周围结构受损,妥善治疗和积极防控才能减少和避免严重并发症的出现.2020年5月14日中南大学湘雅医院收治的1例脑梗死昏迷患者发生了鼻蝇蛆病.该患者在治疗原发病的过程中,发现感染了蝇蛆.给予脱水降颅压、护脑、控制血糖和血压、抗感染等,积极治疗原发疾病,对鼻腔进行了鼻内镜检查/取虫、鼻腔冲洗等以治疗鼻蝇蛆病,然后对患者进行了妥善安置和隔离防控,以防止蝇蛆病在病区内播散.入院第16天后,患者神志恢复,鼻腔内未再发现虫体,病情好转出院.随访6个月,患者鼻腔未再发现蝇蛆,未诉鼻腔不适,收治病区无患者及医务人员感染蝇蛆.蝇蛆病重在预防,应当积极采取措施以降低社区及医院感染的风险.     

Role of Bladder Dysfunction in Men with Lower Urinary Tract Symptoms Refractory to Alpha‐blocker Therapy: A Video‐urodynamic Analysis

Objectives

Lower urinary tract symptoms (LUTS) in men result from a complex interplay of pathophysiology, including bladder and bladder outlet dysfunction. This study retrospectively analyzed bladder dysfunction in men with LUTS based on the results of video‐urodynamic studies (VUDS).

Methods

Male patients (aged ≥40 years), with LUTS and an International Prostate Symptom Score of 8 or more, who were refractory to alpha‐blocker treatment were retrospectively recruited and evaluated with VUDS and total prostate volume (TPV). Patients were further divided into subgroups of bladder dysfunction and bladder outlet dysfunction according to characteristic VUDS findings. Age, TPV and VUDS findings were compared among different subgroups.

Results

After VUDS, bladder outlet obstruction (BOO) was only noted in 48.6% of men. Of patients, 919 of 2991 (30.7%) had bladder dysfunction including detrusor underactivity (DU, 5.1%), detrusor overactivity and inadequate contractility (DHIC, 5.3%), detrusor overactivity (DO, 17%) and hypersensitive bladder (HSB, 3.3%). In addition, 1941 (64.9%) had bladder outlet dysfunction including BOO + DO (33.8%), BOO alone (14.8%), and poor urethral sphincter relaxation (PRES, 16.3%). Among the 1519 patients with DO, 66.6% (1012) had BOO while, among 1454 patients with BOO, 69.5% (1010) had DO. Patients with DHIC, DU and DO were 5 years older than patients with HSB and normal men. TPV was significantly smaller in patients with DHIC, DU and DO as compared with BOO + DO.

Conclusion

Approximately one‐third of male LUTS was due to bladder dysfunction. A man older than 70 years with LUTS and TPV less than 30 mL usually indicates the presence of bladder dysfunction rather than BOO.     

肺特灵Ⅵ号对博莱霉素诱导的小鼠肺纤维化的干预作用及其机制

目的观察肺特灵Ⅵ号对博莱霉素诱导的小鼠肺纤维化的干预作用。方法采用气管内注入博莱霉素法制备小鼠肺纤维化模型。给药28d后处死,计算肺系数;观察肺脏病理形态学改变,并对肺泡炎和肺纤维化程度进行评分;测定小鼠肺组织中超氧化物歧化酶（SOD）、丙二醛（MDA）、总抗氧化能力（T-AOC）与羟脯氨酸（HYP）等生化指标。结果与模型组相比,肺特灵Ⅵ号各剂量组可明显增加小鼠体质量,降低肺系数,减轻肺泡炎与肺纤维化程度,提高肺组织SOD活性与T-AOC,降低MDA与HYP含量（P〈0.05或〈0.01）。结论肺特灵Ⅵ号对博莱霉素诱导的小鼠肺纤维化有一定的防治作用。