性发育异常的诊治要点及现状

性发育异常(disorders of sex development,DSD)是一组表现为性染色体、性腺或性激素性别不典型的先天性疾病,可呈现出多种变异和组合异常的临床特征与病理生理表现[1]。DSD相对少见,表现错综复杂。患者可能在不同年龄段就诊于不同科室,从婴幼儿到成年期的诊治断裂和失访问题是广泛存在的现实问题,相关的系统数据文献仍普遍缺乏。然而,确定DSD的病因、诊断,并制定以患者为中心的临床管理随访计划,对于患者个人和社会健康体系都非常重要。     

三维超声对胎儿颜面部结构异常的诊断价值

目的探讨三维超声检查对胎儿颜面部畸形的产前诊断价值。方法利用Voulson E8对2069例孕18—40周孕妇进行超声检查,并对胎儿颜面部结构进行三维成像,同时对颜面部结构异常者运用三维成像技术进行系统分析。结果2069例中发现颜面部异常119例,单发畸形99例、多发畸形6例、伴发其他结构异常14例;漏诊2例、误诊1例;敏感性为98．3％,特异性为99．2％。结论三维超声能够准确、直观地检测出胎儿颜面部结构异常。     

改良小切口重睑术治疗上睑皮肤松弛的疗效观察

目的 观察改良小切口重睑术治疗上睑皮肤松弛的疗效.方法 回顾性分析2018年2月-2019年2月在我院行改良小切口重睑术的43例上睑皮肤松弛患者的临床资料,将其纳入观察组,将同期行传统埋线重睑术的40例患者纳入对照组.比较两组患者手术满意度、自我评价、自信心评分及术后并发症情况.结果 术后随访1年,观察组手术满意度(9...     

改良三点式重睑术治疗上睑皮肤松弛的临床分析

目的探讨改良三点式重睑术治疗上睑皮肤松弛的临床效果。方法回顾性分析我院2010年2月至2012年5月收治的120例上睑皮肤松弛患者,随机分为2组,其中观察组89例(改良三点式重睑术),对照组31例(传统重睑手术方式),对比分析观察组与对照组患者的术后并发症及满意度情况。结果观察组患者术后对重睑形态都较满意,仅1例出现切口瘢痕增生,经再次修复后满意,术后恢复时间(1±0.5)月;对照组有9例对重睑形态不满意,1例患者在术后2个月时间发生重睑消失,再次修复后满意,术后回复时间(3±0.5)月。结论改良三点式重睑手术可有效改善上睑皮肤松弛,大大增加患者对重睑形态的满意度,减少并发症,术后恢复时间较短,值得向临床推荐。     

Symptomless abnormalities. Minor ECG abnormalities

The implications of the minor ECG abnormalities that I have dealt with may be categorized as follows. Innocent: 1. Sinus arrhythmia, with or without nodal escape beats 2. Atrial extrasystoles 3. Incomplete right bundle-branch block 4. Parabolic depression of the ST segment in association with a rapid heart rate 5. Elevation of the ST segment in the right precordial leads 6. Positive/negative T waves in the transitional zone. Not necessarily indicating disease: 1. Ventricular indicating disease: 1. Ventricular extrasystoles 2. Complete right bundle-branch block 3. Left anterior or posterior hemiblock 4. Abnormally directed T-wave vectors. Probably indicating disease: 1. Plane or downward-sloping ST depression, at rest or on exercise, of more than 1 mm 2. Pyramidal arrowhead T waves, with or without an abnormally directed T-wave vector 3. Negative/positive T waves in leads facing the left ventricle 4. Inverted U waves. It is clear that careful assessment must be made before minor ECG abnormalities in presumptively normal individuals are accepted as indicators of the presence of heart disease.     

Lofgren syndrome revealed by eyelid tumor

INTRODUCTION: The Lofgren syndrom is a particular variety of sarcoidose. The ocular attack is dominated in this syndrome by anterior uveitis. More rarely the eyelids and the orbitary structures are attached. PURPOSE: In this work, we report a Lofgren syndrome case revealed by eyelid tumor. OBSERVATION: It is about 42 year-old patient who consults for a right inferior eye-lid tumefaction developped for 2 months. The diagnosis of Lofgren syndrome was evoqued because of the association of fever, arthritis, erythema nodosum, tuberculin anergia, hypercalcinuria and mediastinal adenopathy at thoracic scan-tomography. The diagnosis was then confirmed by biopsy of palpebral tumor which showed multiple epithelioid and gigantocellular granuloma without caseous necrosis. CONCLUSION: The Lofgren syndrome is a multivisceral chronic affection. The eye and its annexes constitute frequent cibles of this affection for which they react by a diverse and rich symptomalogy and which can be presented by eye-lid tumors with orbital extension.     

常染色体异常与严重少精子症

目的 探讨严重少精子症与常染色体平衡易位、染色体多态性之间的关系.方法 对612例严重少精子症患者外周血淋巴细胞培养、制片、G显带,计数30～60个中期分裂相,分析3～6个分裂相.结果 发现常染色体相互易位13例,常染色体多态性8例.结论 男性常染色体异常可导致少精子症,开展辅助生殖技术的机构应对受术者进行认真细致的染色体检查,防止染色体异常患儿出生.     

Rheumatoid arthritis and thyroid abnormalities

Relationships between rheumatoid arthritis (RA) and the thyroid gland have been studied extensively for a long time. The studies of this problem have focused mainly on: (a) the functional and immune thyroid gland abnormalities in patients with previous history of RA, and (b) joint changes in patients with previous autoimmune thyroid diseases. Thyroid dysfunctions in RA patients are most often of autoimmune nature; they are accompanied by elevated thyroid autoantibody titers. The RA patients usually present with eu-, hypo- or hyperthyroid manifestations. The concurrent affection of joints and thyroid gland is related most probably to a genetic predisposition determined by the affiliation to a certain HLA type, most often HLA-DR. Joint abnormalities in thyroid gland disorders may be of different character (generally polyarthritis) and they are due to hypothyroidism. One possible explanation of the presence of two or more autoimmune diseases in one individual is microchimerism - the presence of a small number of fetal cells in the mother as well as maternal cells in the fetus. These data provide grounds for tests to be performed in all cases of RA so that thyroid autoantibodies and thyroid dysfunctions can be detected early and treated adequately.