927名不同民族儿童智商调查分析

目的：了解新疆农牧区不同民族学龄儿童的智商(IQ)发育情况。方法：用绘人测验法对农牧区的汉、维吾尔、哈萨克、回族等共927名儿童的智商进行了筛查，并对结果进行统计学分析。结果：各民族儿童之间的智商有性别差异和族别差异。各民族儿童的智商与学习成绩有关。结论：新疆农牧区儿童智商偏底，需要加强教育，尤其是学前教育．     

Mutation analysis of the TNFAIP3 in A20 haploinsufficiency: A case report

Introduction:Haploinsufficiency of A20 (HA20) is a novel genetic disease presented by Zhou et al in 2016. A20 is a protein encoded by TNFAIP3. Loss-of-function mutation in TNFAIP3 will trigger a new autoinflammatory disease: HA20. HA20-affected patients may develop a wide range of clinical manifestations, such as Behcet disease, rheumatoid arthritis, rheumatic fever, juvenile idiopathic arthritis, and systemic lupus erythematosus. HA20 is rarely reported, thus remaining far from thoroughly understood. Sixty-one cases of HA20 have been reported worldwide, among which 29 cases were diagnosed with Behcet disease ultimately. Moreover, 3 cases have been reported in China, which was the first report of HA20 characterized by Behcet disease. A comprehensive understanding of the pathogenic genes of HA20 could help us apply targeted therapy as soon as possible to improve patients’ survival rates.Patient concerns:A 2-year-old 3-month-old child was presented to our hospital with recurrent infectious enteritis and stomatitis.Diagnosis:Genetic mutations were detected immediately, and a novel pathogenic mutation was found in TNFAIP3. A heterozygous mutation (c.436-437deTC) located at TNFAIP3 was confirmed. The present research indicated that the TNFAIP3 mutation of c.436-437deTC (p.L147Qfs^∗7) accounted for familial Behcet-like autoinflammatory syndrome in the child suffering from HA20, while no variation in this locus was found in her parents.Interventions:Symptomatic treatments including oral administration of prednisone (12.5 mg/d) and iron supplement were performed, and repeated infection was no longer observed in the child. Pain and activity limitation was found in the knee joints. The treatment regimen was adjusted to oral prednisone (12.5 mg/dose, 2 doses/d) and subcutaneous injection of rhTNFR:Fc (12.5 mg/week).Outcomes: At the last follow-up, the limbs’ activities were normal, the inflammatory indicators were reduced or within the normal range. The prednisone dose was reduced to 7.5 mg/d, while the dose of rhTNFR:Fc was not changed.Conclusion:We have identified a novel pathogenic HA20 mutation. In this article, 1 case was analyzed in-depth in terms of clinical manifestations of the patient and new sources of such a novel disease, which might improve our understanding of this disease.     

乌鲁木齐市汉族孕妇营养知识、态度及行为调查与分析

目的了解乌鲁木齐市汉族孕妇营养知识、态度及饮食行为现状及其影响因素,为孕妇营养教育工作提供科学依据。方法采用问卷调查法,对2011年5-11月在乌鲁木齐市妇幼保健院定期行产前检查的汉族孕妇共600例(孕早、中、晚期各200例)进行营养知识、态度、行为的问卷调查,并对结果进行分析。结果乌鲁木齐市汉族孕妇营养知识掌握情况欠佳,营养态度普遍较好。62.8%的孕妇有挑食、偏食现象,66.7%的孕妇不吃保健品,97.8%孕妇不吸烟,但是61.5%的孕妇受被动吸烟,1.3%孕妇在孕期偶尔饮酒,96.8%孕妇不知道如何安排孕期的饮食。孕妇营养知识水平与年龄、文化程度间差异有统计学意义(P<0.01),与职业间差异无统计学意义(P>0.05)。结论乌鲁木齐市汉族孕妇的营养知识水平和饮食行为有待改善,建议提高医护人员的营养知识水平,加强孕妇及家人的营养教育,以促进母子健康。     

塔克拉玛干“沙漠人”心电图左室高电压特点及其相关因素

目的研究塔克拉玛干"沙漠人"心电图左室高电压特点及其相关因素。方法对368例"沙漠人"("沙漠人"组)和151例对照组进行静态心电图检查,相关数据采用χ2检验对率作趋势分析。结果 (1)左室高电压:"沙漠人"组为89例(24.2%),男性为63例(28.5%),女性26例(17.7%)。对照组为19例(12.6%),男性11例(14.5%),女性为8例(10.7%),2组差异有统计学意义(P<0.01),"沙漠人"组Sv1+Rv5明显高于对照组(P<0.01)。(2)"沙漠人"组高血压检出率明显低于对照组(P<0.01)。(3)"沙漠人"组左室高电压编码人中高血压检出率明显低于对照组左室高电压人中高血压检出率(P<0.01)。(4)左室后壁和室间隔的测定:"沙漠人"组左室高电压中仅1例有室间隔轻度增厚。结论 "沙漠人"心电图的左室高电压检出率较高,其QRS振幅高,时限狭窄,无ST段压低及T波倒置,与心律失常关系不密切。     

Pilot study of the optimal protocol of low dose step‐up follicle stimulating hormone therapy for infertile women

Purpose

To evaluate the optimized protocol of low dose follicle‐stimulating hormone (FSH) therapy that has a starting dose of 50 IU/62.5 IU with a small increment dose (12.5 IU) for women with World Health Organization (WHO) II ovulatory disorder and unexplained infertility.

Methods

Anovulatory women with WHO group II ovulatory disorder (ovulation induction [OI] patients, n = 29), and with an unexplained infertility (ovarian stimulation [OS] patients, n = 21) were enrolled. The protocol of low dose step‐up FSH therapy was optimized for the starting dose as 50 IU (body mass index [BMI] < 20 group) and 62.5 IU (BMI ≥ 20 group) with the increment dose of 12.5 IU. Study outcomes were ovulation, monofollicular development and other variables.

Results

In the OIpatients, the ovulation rate was 100% (BMI < 20 group) and 90.9% (BMI ≥ 20 group). Monofollicular development was 80.0% (BMI < 20) and 77.3% (BMI ≥ 20). The pregnancy rate was 60% (3/5 BMI < 20) and 18.2% (4/22 BMI ≥ 20). There was no multiple pregnancy. In the OSpatients, the ovulation rate was 100%. Monofollicular development was 85.7% (BMI < 20) and 76.6% (BMI ≥ 20). No pregnancy was achieved in the OSpatients.

Conclusion

Optimized protocol of low dose FSH therapy setting a starting dose 50 IU/62.5 IU by BMI with an increment dose of 12.5 IU was safe and highly effective in WHO group II anovulatory patients. However, this protocol seemed uneffective for patients with unexplained infertility.     

使用气囊导尿管致男性尿道损伤分析

目的 探讨因留置导尿管所致的男性尿道损伤的原因和治疗方法。方法 对13例尿道损伤的临床资料进行分析。结果 全部为住院患，年龄23岁-79岁，其中内科5例，外科8例，因导尿而损伤10例，拔尿管损伤3例，尿道 部分裂伤10例，尿道粘膜损伤3例，其中前尿道6例，后尿道4例，全尿道3例，除1例未置尿管外其余12例均重新置导尿管且全部成功，拔管后排尿正常，无并发症。结论 气囊导尿管致尿道损伤多由于操作不当引起，多为尿道部分裂伤和粘膜损伤，一旦发现应及时处理，重新插导尿管困难，先用尿道扩张器探入膀胱，再用自制的钢丝芯引导尿管入膀胱，保留10-14d，疗效满意。     

实验性自身免疫性睾丸炎病理变化及肥大细胞改变

目的 观察和分析BALB/c小鼠自身免疫性睾丸炎后病理改变及肥大细胞(MC)的数量、分布等变化.方法 BALB/c雄性小鼠72只,随机分为6组,每组12只,其中5组为模型组,行单侧睾丸动脉结扎,在结扎后2h开通血管,分别在开通后12h、1周、2周、3周、4周处死,取睾丸和附睾;另一组为对照组,不做任何处理,直接取睾丸和附睾进行对比.结果 TB染色显示对照组侧睾丸MC基本上只见于白膜下面,睾丸间质中几乎不存在或仅偶见MC.模型组侧小鼠睾丸白膜、睾丸间质、睾丸纵隔以及附睾中均可见MC.其中附睾中MC的数量最多,依次是纵隔、白膜、睾丸间质.模型组MC的数量和分布与对照组比较差异具有显著性.HE染色显示:随着缺血后再灌注的时间延长,组织病理变化逐渐减轻.结论 自身免疫性睾丸炎模型组MC数量高于对照组,睾丸组织病理变化随时间延长逐渐减轻,具有相对的可恢复性.