Overlapping phenotype of Wolf-Hirschhorn and Beckwith-Wiedemann syndromes in a girl with der(4)t(4;11)(pter;pter)

We report on an 8-month-old girl with a novel unbalanced chromosomal rearrangement, consisting of a terminal deletion of 4p and a paternal duplication of terminal 11p. Each of these is associated with the well-known clinical phenotypes of Wolf-Hirschhorn syndrome (WHS) and Beckwith-Wiedemann syndrome (BWS), respectively. She presented for clinical evaluation of dysmorphic facial features, developmental delay, atrial septal defect (ASD), and left hydronephrosis. High-resolution cytogenetic analysis revealed a normal female karyotype, but subtelomeric fluorescence in situ hybridization (FISH) analysis revealed a der(4)t(4;11)(pter;pter). Both FISH and microarray CGH studies clearly demonstrated that the WHS critical regions 1 and 2 were deleted, and that the BWS imprinted domains (ID) 1 and 2 were duplicated on the der(4). Parental chromosome analysis revealed that the father carried a cryptic balanced t(4;11)(pter;pter). As expected, our patient manifests findings of both WHS (a growth retardation syndrome) and BWS (an overgrowth syndrome). We compare her unique phenotypic features with those that have been reported for both syndromes.     

A Parathyroid Myxoadenoma Observed Grossly

We are reporting a case of a patient with primary hyperparathyroidism because of an unusual parathyroid adenoma. The tumor had an extensive myxofibrous stroma without an identifiable lipomatous component. Though moderate to extensive myxoid alteration of the stroma has been reported in lipoadenomas, to the best of our knowledge, this is the first parathyroid adenoma in which the myxomatous component was recognized grossly and which lacked a stromal adipose component.     

Continuous versus interrupted sutures for repair of episiotomy or second-degree perineal tears: a randomised controlled trial

Objective  To evaluate the repair techniques of continuous and interrupted methods for episiotomy or perineal tears.
Design  A randomised controlled trial.
Setting  The Hospital Universitario Principe de Asturias, a state hospital belonging to the community of Madrid.
Sample  Four hundred forty-five women who had undergone vaginal deliveries with episiotomies or second-grade tearing of the perineum between September 2005 and July 2007.
Methods  One group was repaired with continuous, nonlocking sutures involving the vagina, perineum, and subcutaneous tissues. The other group had continuous, locking sutures of the vagina, interrupted sutures in the perineal muscles, and interrupted transcutaneous sutures. The threads used for stitching were identical in both groups.
Main outcome measures  The participants were questioned regarding the sensation of pain and the use of painkillers on the second and the tenth days, and 3 months postpartum.
Results  When comparing the group with continuous suture to the group with interrupted sutures, the differences included less repair time (1 minute; P = 0.017) and less suture material used (relative risk [RR], 3.2, 95% CI: 2.6–4.0). The comparison of pain on the second and tenth days, and 3 months postpartum were not statistically different between the two techniques (RR, 1.08, 95% CI: 0.74–1.57; RR, 0.96, 95% CI: 0.59–1.55; and RR, 0.68, 95% CI: 0.19–2.46, respectively).
Conclusions  Although we did not demonstrate that one technique was better than the other in the incidence of pain in the short or long term, we showed that episiotomy and perineal tear repairs with continuous suturing were quicker and used less suture material without an increase in complication than interrupted suturing.     

北京市社区妇女人乳头瘤病毒感染率及其对HPV和疫苗认知情况的调查分析

[目的]评估北京市社区妇女人乳头瘤病毒（HPV）的感染率;调查社区人群对HPV的认知情况以及对HPV疫苗接种的态度。[方法]采用横断面调查方法,对北京市展览路社区15￣54岁女性进行HPV认知和流行病学问卷调查,并留取了宫颈脱落细胞或会阴部标本进行HPV DNA检测。[结果]1013名女性接受了问卷调查,832例HPV DNA检测结果纳入了统计学分析。HPV总检出率为15.38%,高、低危型HPV感染率分别为13.34%和3.25%,同时感染高、低危型HPV的检出率为1.20%。1013名调查对象中有30.7%听说过HPV,其中51.78%知道HPV感染与宫颈癌有关;HPV的知晓率与年龄和教育程度有关（P〈0.05）;经过简单宣教后,75.91%愿意接种HPV疫苗。[结论]北京市社区妇女HPV现患率较高,对HPV的知晓率也较高。开展公众健康教育,提高人群的认识水平是疫苗计划获得成功的关键因素。     

全科医生札记——布朗医生日记

丢了西瓜捡芝麻 上周，一个名叫鲍勃的病人给我打来电话，问我是否能给他的保险公司写一封信，因为这家保险公司拒绝支付他的心脏扫描费用，保险公司认为这种检查属于临床研究性质，所以拒付。我立即给这家保险公司写了一封短信，信中列出了鲍勃患心脏病的风险因素，并说明了无症状要做检查的理由。今天这家保险公司终于让步了，并表示此类检查仅允许这一次。     

全科医生札记——布朗医生日记

持之以恒 一天中最后几位病人有时是最难处理的病例。昨天下午4点来了位新病人，病情比较复杂，女，45岁，寒战、低热和气短4天。最初看起来像肺炎，不过为了确诊我还是拍了个X线胸片。下午5点接到了放射科医生的结果回报：X线片提示充血性心力衰竭。这个病例并不是开些抗生素，做两天随访就能解决问题的，而是需要住院治疗。