儿童Lowe综合征OCRL基因突变2例报告

目的探讨儿童Lowe综合征的临床特点和基因特征。方法分析2例Lowe综合征患儿的临床资料和OCRL基因检测结果,并复习相关文献。结果 2例患儿均为男性,均存在小分子蛋白尿、高钙尿症、佝偻病和肾结石。例2患儿还有轻度代谢性酸中毒、糖尿和隐睾症。例1患儿生后不久发现有视力异常和先天性白内障,并行手术治疗,同时存在精神运动发育落后,头颅磁共振成像(MRI)示胼胝体发育不良。例2患儿就诊时肾外症状不明显,但眼科检查发现有先天性白内障,头颅MRI示脑发育低下、脑白质髓鞘化延迟,且随访过程中逐渐出现智力发育落后。OCRL基因检测发现2个突变,例1为剪切位点突变NG 008638.1:g.46846-46848del TAA/ins C,例2为缺失移码突变NM000276.3:c.321del C,两种突变以前文献均未报道。结论 Lowe综合征的诊断主要通过临床表现和OCRL基因检测,对于有先天性白内障、肾小管病变的患儿需要与Lowe综合征鉴别。本研究发现2个OCRL基因的新突变。     

Detection of a recurring mutation in the human growth hormone-releasing hormone receptor gene

OBJECTIVE: Mutations in the gene encoding for the GH-releasing hormone receptor (GHRHR) have been recently described in patients with familial isolated GH deficiency (IGHD) type IB. To date, all reported mutations have been found in kindreds sharing common ancestors. The only exception is a T to A transversion which causes a substitution of histidine for leucine in codon 144 (L144H) and creates a DraIII restriction site. This mutation was described in two families with different ethnic background residing in two different continents (Europe and North America). DESIGN: We searched for GHRHR mutations in a new family with IGHD from a third continent (South America) and found the affected individuals to be homozygous for the same L144H change. We performed linkage analysis with intra- and para-genic polymorphisms to determine if the three families carrying the L144H allele are related. RESULTS: Linkage analysis studies demonstrated that one of the three families does not share the same para- and intragenic GHRHR polymorphisms with the other two. CONCLUSIONS: The L144H mutation has arisen at least twice and should be considered for initial genetic analysis in patients with familial IGHD in whom the a GHRHR mutation is suspected.     

The need for patient-focused therapy for children and teenagers with allergic rhinitis: a case-based review of current European practice

Allergic rhinitis is a common problem in childhood and adolescence, with a negative impact on the quality of life of patients and their families. The treatment modalities for allergic rhinitis include allergen avoidance, anti-inflammatory symptomatic treatment and allergen specific immunotherapy. In this review, four cases of children with allergic rhinitis are presented to illustrate how the recently published EAACI Guidelines on Pediatric Allergic Rhinitis can be implemented in clinical practice.     

Rapid and noninvasive technique to assess the metabolomics profile of bovine embryos produced in vitro by Raman spectroscopy

Morphological assessments are used to select embryos with the highest implantation potential, however it is still very limited. The development of new technologies, such as Raman spectroscopy have improved quantitative and qualitative analysis, and consequently led to a better characterization of embryos and improvements on the prediction of their potential. Therefore, we propose a method based on the conventional in vitro culture system of bovine embryos, and the subsequent analysis of the culture media drops by Raman spectroscopy. Our results obtained by PCA analysis clearly showed a separation of the spectral profiles from culture media drops with and without embryos.OCIS codes: (170.0170) Medical optics and biotechnology, (170.5660) Raman spectroscopy, (170.1420) Biology     

突发性聋患者耳蜗死区分布及预后分析

目的：采用阈值均衡噪声检测法研究耳蜗死区在突发性聋患者中的分布情况,探讨耳蜗死区与突发性聋预后的关系。方法采用阈值均衡噪声检测法检测138例（149耳）突发性聋患者,综合治疗2周后,再次行听力检测,分析耳蜗死区和突发性聋预后的相关性。结果138例（149耳）突发性聋患者中39例患者（45耳）单或双耳存在一个或多个频率的耳蜗死区,耳蜗死区检出率为30.20%（45/149）;耳蜗死区在突发性聋患者主要分布在2000～4000 Hz的高频区域;检测有听力下降的频率993个,其中有耳蜗死区的频率103个,治疗后有效率29.13％（30/103）;经检测无耳蜗死区的频率890个,治疗后有效率54.38％（484/890）。两组有效率进行比较,差异具有统计学意义（χ2=23.58,P<0.05）。结论耳蜗死区与突发性聋预后密切相关。     

新诊断老年2型糖尿病患者视网膜病变患病率和危险因素分析

目的 了解老年新诊断糖尿病患者视网膜病变的患病情况及危险因素. 方法新诊断糖尿病和糖尿病前期患者337例,其中老年组109例.采用问卷调查的方法收集患者血糖状况资料并采用免散瞳的眼底照相机(TRC-NW100 non-mydriatic camera,Topcon,日本)进行眼底病变筛查,计算糖尿病视网膜病变患病率. 结果 受试者总的糖尿病视网膜病变患病率为4.7%,其中老年组新诊断糖尿病患者视网膜病变患病率为8.3%,非老年组为4.0%,两者比较差异无统计学意义.老年糖尿病组与非老年糖尿病组中视网膜病变比较,收缩压的差异有统计学意义[(134±11)mm Hg与(113±7)mm Hg,P＜0.05],而血糖水平、血脂及体质指数比较差异无统计学意义. 结论 老年新诊断糖尿病患者视网膜病变的患病率与其它年龄组人群相似,其危险性并没有因为年龄增长而增加.     

槐杞黄颗粒治疗儿童原发性肾病综合征的前瞻性随机对照临床研究

目的观察槐杞黄颗粒对儿童原发性肾病综合征的治疗作用。方法采用前瞻性研究法,2009年7月至2011年12月住院并初诊为原发性肾病综合征的患儿随机分为糖皮质激素联用槐杞黄颗粒治疗组(观察组,n=23)和单用糖皮质激素治疗组(对照组,n=19),比较两组患儿浮肿消退时间、尿蛋白阴转时间、感染发生率、复发率、糖皮质激素用量及细胞、体液免疫功能。结果观察组与对照组浮肿消退时间、尿蛋白阴转时间、复发率差异无统计学意义(P0.05)。观察组感染发生率低于对照组(P0.05),6个月时每日糖皮质激素用量小于对照组(P0.05)。两组体液、细胞免疫学指标检测差异无统计学意义(P0.05)。未观察到槐杞黄相关不良反应的发生。结论槐杞黄可减少肾病综合征患儿糖皮质激素用量及感染合并症的发生,且显示了其治疗的安全性。     

Postural education and behavior among students in a city in southern Brazil: student postural education and behavior

[Purpose] The aim of the present study was to assess the knowledge of the spine and posture among adolescent female students and to determine if they had access to postural education in or outside school. [Subjects and Methods] This was an epidemiological survey of a representative sample of 495 female students aged 14 to 18 years attending a regular secondary school in São Leopoldo, RS, Brazil. Data were collected through a questionnaire. [Results] The results showed that 16.8% of teens did not know what a spine was, 8.3% had no knowledge of posture, and 61% reported receiving no posture education. Posture awareness was associated only with posture while using a computer, while having postural education class was not associated with any postural behavior. [Conclusion] The results showed that, although most students are familiar with the spine and posture, a sizable group is not, and over half had no postural education. These findings suggest that inclusion of postural education programs in schools should be encouraged in order to promote health and prevent diseases related to the spine.Key words: Posture, Adolescent health, School health     

Effect of a 12-week aerobic training program on perceptual and affective responses in obese women

[Purpose] The aim of this study was to observe the effect of self-selected intensity or imposed intensity during aerobic training on perceptual and affective responses in obese women. [Subjects] The study included 26 obese women aged 30–60 years. [Methods] The subjects were randomly divided into two groups, with 13 subjects in each group: self-selected intensity and imposed intensity (10% above ventilatory threshold) groups. All subjects completed an intervention program that lasted 12 weeks, with three exercise sessions a week. The rating of perceived exertion and affective responses (Feeling Scale and Felt Arousal Scale) were monitored in the first, sixth, and twelfth weeks. [Results] Significant differences were observed between groups in heart rate and rating of perceived exertion. The affective responses during exercise were more negative in the imposed intensity group. [Conclusion] Use of a self-selected exercise intensity can promote smaller negative affective responses during exercise and provide a sufficient stimulus for improvement in cardiorespiratory fitness.Key words: Self-selected exercise, Rating of perceived exertion, Affective responses