Up-regulation of estrogen responsive genes in hypospadias: microarray analysis

PURPOSE: An unexplained increase in the incidence of hypospadias has been reported, and yet to our knowledge the molecular events and their regulation leading to hypospadias remain unknown, although environmental compounds capable of endocrine activity are suspected. We screened on a global scale abnormalities in gene expression in human hypospadiac tissue compared to those in nonhypospadiac tissue. Additionally, microarray analysis of tissue from a pair of fraternal twins, including 1 with and 1 without hypospadias, served as a control for genetic variability. We hypothesized that gene expression would differ between hypospadiac vs nonhypospadiac tissue and fraternal twin data would show patterns similar to those of group data on hypospadiac and nonhypospadiac tissue. MATERIALS AND METHODS: Microarray analysis was performed on tissue from patients with and without hypospadias, and from a pair of fraternal twins, including 1 with and 1 without hypospadias. Analysis incorporated the expression of 22,000 genes. RESULTS: We found significant differences in gene expression, specifically with a group of genes, including CYR61, CTGF, ATF3 and GADD45beta, known to be responsive to estrogen or to interact with estrogen receptor. CONCLUSIONS: Our findings provide support for the hypothesis that endocrine active environmental compounds may contribute to the development of hypospadias. Additionally, regulation of these genes may have a role in formation of the urethra.     

广东地区223例皮肌炎与其并发症的临床分析

目的:探讨广东地区皮肌炎与其各种并发症的关系及特点。方法:收集近20年来广东各地在中山大学孙逸仙纪念医院住院治疗的223例皮肌炎患者资料相关数据输入计算机,用数据库软件Microsoft Visual FoxPro version 5.0进行统计处理。结果:223例患者中并发心电图异常者80/178例(44.9％),肺部病变44例(19.7％),食道功能异常44例(19.7％),恶性肿瘤26例(11.7％),糖尿病13例(5.8％),与系统性红斑狼疮重叠8例(3.6％),高血压及血管炎各6例(2.7％),类风湿性关节炎4例(1.8％),红皮病3例(1.3％),肾功能衰竭1例。结论:广东地区皮肌炎患者常见的并发症是糖尿病、系统性红斑狼疮;恶性肿瘤发生率比北京地区高,以鼻咽癌为主,年龄偏低。间质性肺炎发生率相对较低;心电图异常及食道功能异常两地相近。     

Reduced striatal tyrosine hydroxylase in incidental Lewy body disease

Incidental Lewy body disease (ILBD) is the term used when Lewy bodies are found in the nervous system of subjects without clinically documented parkinsonism or dementia. The prevalence of ILBD in the elderly population has been estimated at between 3.8 and 30%, depending on subject age and anatomical site of sampling. It has been speculated that ILBD represents the preclinical stage of Parkinson’s disease (PD) and/or dementia with Lewy bodies (DLB). Studies of ILBD could potentially identify early diagnostic signs of these disorders. At present, however, it is impossible to know whether ILBD is a precursor to PD or DLB or is just a benign finding of normal aging. We hypothesized that, if ILBD represents an early stage of PD or DLB, it should be associated with depletion of striatal dopaminergic markers. Eleven subjects with ILBD and 27 control subjects were studied. The ILBD subjects ranged in age from 74 to 96 years (mean 86.5) while the control subjects’ age ranged from 75 to 102 years (mean 86.7). Controls and subjects did not differ in terms of age, postmortem interval, gender distribution, medical history conditions, brain weight, neuritic plaque density or Braak neurofibrillary stage. Quantitative ELISA measurement of striatal tyrosine hydroxylase (TH), the principal enzyme for dopamine synthesis, showed a 49.8% (P = 0.01) reduction in ILBD cases, as compared with control cases. The finding suggests that ILBD is not a benign condition but is likely a precursor to PD and/or DLB.     

Hypertension and impotence

In a group of 472 impotent patients who were evaluated with pharmacologic duplex sonography, 117 patient (24.8%) had a history of hypertension, 26 of them (22.2%) for more than 10 years. Objective data about the changes in pulsation, diameter and blood flow velocity of the penile arteries after papaverine injection and the resulting erectile response allowed indirect assessment of the penile venous function. Varying degrees of impaired arterial function were diagnosed in 85% of the patients. The duration of hypertension had less deteriorating effects on the penile arterial system than second risk factors such as diabetes mellitus (n = 31) or smoking (n = 26). Patients on antihypertensive medication (n = 88, 75.2%) demonstrated a worse arterial response to papaverine than those without medication (n = 29, 24.8%). The best vascular response to papaverine injection was found in patients taking a combination of beta-blockers and vasodilators (n = 6), whereas thiazides either taken alone or in combination (n = 51, 60%) seem to have a deteriorating effect on arterial function. However, the arterial response did not correlate with the ability to achieve 'full erection' after intracavernous papaverine injection. Clinical experience confirms that certain antihypertensive drugs affect not only the blood pressure, but also compliance of the erectile tissue resulting in a functional venous leak. This may impair erectile function as much as arteriosclerotic changes of the vascular system secondary to hypertension.     

肌圆锥断层解剖学研究

目的:为肌圆锥间隙疾病及眼型Graves病影像学诊断提供形态学基础.方法:在15个防腐固定成人尸头的颅前窝底上作9个连续冠状断面,观测眼球后第2～5断面眼直肌的宽、厚、断面面积和距离.结果:在第2～5断面上,眼直肌断面面积之和与相应眶断面面积的比率分别为:(20±3)%、(27±2)%、(23±3)%、(13±1)%.水平肌厚度之和与相应眶宽的比率分别为:(36±4)%、(39±5)%、(33±5)%、(24±4)%.结论:在第3断层上利用此两个比值可预测眼型Graves病视神经病变发生的可能性.眼眶冠状断面可反映眶内各间隙之间的关系,可为影像学诊断肌圆锥间隙疾病提供形态学资料.     

Sleep related myoclonus in rheumatic pain modulation disorder (fibrositis syndrome)

Thirty-three patients with rheumatic pain modulation disorder (RPMD) were divided into 2 groups: RPMD with sleep related myoclonus (RPMD-SM) (n = 12) and RPMD only (n = 21). Both groups showed chronic nonarticular musculoskeletal pain, fatigue, tender points, and nonrestorative sleep with alpha (7.5-11 Hz) EEG sleep anomaly. RPMD-SM patients were older, had later onset of illness, showed disrupted sleep with periodic involuntary leg movements that were related to fatigue, and alpha EEG sleep related to fatigue and pain.     

Functional evaluation of penile veins by cavernosography in papaverine-induced erection

Of 49 patients in whom cavernosography was performed after papaverine-induced erection 38 had abnormal venous leakage to various drainage systems (corpus spongiosum, cavernous vein or superficial and deep dorsal veins). Because the effect of papaverine on penile arteries, sinusoids and veins is similar to that caused by electrostimulation, we believe that this technique is better than other reported means of evaluating the functional status of the penile veins. However, we recommend that only patients with a normal arterial response but poor erection after papaverine injection be considered candidates for erection cavernosography, since they most likely will benefit.     

人工流产女青年性行为和避孕现状研究

目的:了解北京市人工流产女青年的性行为和避孕现状,探讨人工流产、特别是重复流产的影响因素。方法:采用自填式问卷的方法,对北京市1 008名自愿要求人工流产、在1980年8月1日之后出生的女青年进行现状调查。结果:研究对象首次性行为的平均年龄为(20.70±1.95)岁,54%的人在20岁之前就开始了性生活;首次人工流产的平均年龄为(21.96±1.81)岁,首次流产在20岁之前的占17.0%;将近25%的人曾与2名及以上的男性发生过性关系;人流女青年本次怀孕的原因,60.2%是因为没有避孕,39.7%由于避孕失败;没有避孕的主要原因是"在没有准备好避孕药具的情况下同房"(41.5%)和"知道避孕方法但不想用"(39.7%);避孕失败的主要原因是全安期和体外射精(39.0%)、避孕套(32.7%)和紧急避孕(18.5%);过去3个月中,最常用的避孕方法为避孕套(75.5%)、全安期和体外射精(11.0%)、紧急避孕(8.2%);在避孕套使用者中,只有9.3%能坚持每次同房都用;77.2%的人认为口服避孕药对身体不好;32.4%的研究对象有重复流产。单因素分析发现,文化程度低、未婚同居、首次性生活和首次流产的年龄小、多性伴和不能坚持、正确使用避孕措施是重复流产的影响因素。结论:女青年首次性行为开始早、多性伴比例高、避孕药具使用率低或使用低效的避孕方法是非意愿妊娠和人工流产的主要原因,且重复流产现象比较严重;同时,流动人口在人流女青年中占了相当大的比例。因此,应当对未婚人群和流动人口女青年进行人工流产的危害以及避孕知识的宣传教育,提高现代科学的避孕药具使用率,避免不必要的意外妊娠和人工流产。