GREB1L基因突变致后天性单侧肾萎缩一例报道并文献复习

肾发育不良和肾发育不全（RAH）是先天性肾脏与尿路畸形（CAKUT）的主要表现之一,是导致儿童慢性肾脏病的重要原因。遗传因素与发病密切相关,随着全基因检测技术的发展,越来越多与RAH相关的基因突变被报道,GREB1L基因突变已被证实可导致RAH。本研究报道了1例后天性单侧肾萎缩GREB1L基因c.4688A>G杂合突变患儿,并复习相关文献。该患儿基因突变源自母亲,该变异为罕见变异,并且具有不完全外显特性,多种蛋白质危害预测软件预测该突变为有害变异。本文发现了新的GREB1L基因突变位点,可能拓展了与RAH相关的基因突变谱和临床谱。     

小儿遗尿症指南和专家共识质量评价

背景 小儿遗尿症是儿科常见病之一,有效的小儿遗尿症诊疗指南有助于症状的规范化控制和缓解,而制定高质量的临床实践指南是提高小儿遗尿症诊疗水平的重要方式。目的 基于AGREEⅡ和RIGHT工具,评价2010年以来国内外发布的小儿遗尿症指南和专家共识的质量,以期为临床实践及后续指南的制订提供参考。方法 检索中国知网、万方数据知识服务平台、维普网、中国生物医学文献数据库和PubMed(补充检索医脉通、世界卫生组织以及英国国家临床示范研究所等数据库)2010-01-01至2022-01-31公开发表的小儿遗尿症相关的诊疗指南和专家共识。采用AGREEⅡ和RIGHT工具评价纳入文献的方法学和报告质量。根据AGREE Ⅱ工具评价结果,将各指南/共识推荐等级评定为“推荐(A级)”“更新后推荐(B级)”和“不推荐(C级)”。使用组内相关系数(ICC)进行一致性评价。结果 纳入8部指南和5部专家共识。共形成推荐意见185条,其中44条为诊断评估方面的意见,140条为治疗方面的推荐意见,1条为随访推荐意见。AGREEⅡ工具评价结果显示,范围和目的、参与人员、严谨性、清晰性、应用性和独立性6个领域的总得分(报...     

Behavior Problems in Children With Diabetes: Disentangling Possible Scoring Confounds on the Child Behavior Checklist

Objective: The Child Behavior Checklist (CBCL; T. M. Achenbach,1991), when used to assess the behavior of children with diabetes,may contain confounds because some behavioral items can havea physiologic etiology, and may skew reports of behavioral disturbance. Methods: Two techniques were used to disentangle possible scoringconfounds in the behavioral ratings of children with and withoutdiabetes: (1) the Somatic Complaints scale was deleted, or (2)Diabetes Items, identified a priori with 89% agreement by ninemedical personnel, were deleted. Results: As expected, with traditionally scored protocols, childrenwith diabetes obtained higher Internalizing and Total BehaviorProblem scores than controls. This group difference persistedwhether the Somatic Complaints scale or the Diabetes Items weredeleted. Conclusions: Compared to controls, children with diabetes obtainedmildly elevated scores on six of the eight CBCL scales, regardlessof scoring method, suggesting that their mildly elevated behavioralprofile is not confounded by physiologic symptomatology.     

Pancreatoblastoma with marked elevation of serum alpha-fetoprotein

Summary The autopsy findings in a pancreatoblastoma in a 7-year-old Japanese girl is reported. The tumour was in the head and body of the pancreas, and was associated with diffuse carcinomatous peritonitis and hepatic and pulmonary metastases. There was marked elevation (more than 10000 ng/ml) of serum alpha-fetoprotein (AFP). Histopathologically the tumour was composed of solid epithelial elements with fibrous stroma, showing acinar arrangement, squamoid clusters and tubular structures. The epithelial elements contained numerous fine PAS positive granules in the cytoplasm. Immunocytochemical results suggested epithelial differentiation with positivity to alpha-1-antitrypsin (AAT), keratin, CA19-9, and AFP. No endocrine elements were recognized. Characteristic feature of this tumour are discussed and compared with prevoius reports.     

轻型孤独症患儿行为特征的探讨

儿童孤独症是以社交障碍、语言障碍和重复刻板行为为特征的广泛性发育障碍 ,近年来发病率呈上升的趋势 ,其中轻型患儿占有相当的比例[1] 。因病因尚不清楚 ,因此尚无特异性的诊断手段 ,主要依靠临床症状和表现。而轻型孤独症患儿由于症状较轻或不典型 ,因此增加了临床诊断的困难 ,易被漏诊或误诊而使患儿失去获得早期干预的机会。目前国内有关孤独症的研究主要限于典型孤独症患儿 ,而有关轻型患儿的研究尚未见报道。我们对轻型孤独症患儿的临床表现及行为特征进行了探讨 ,旨在为轻型孤独症患儿的正确诊断提供依据。1　对象和方法1.1　研究对…     

Anatomic study of the tricuspid valve in children

We performed an anatomic study of the right atrioventricular valve in children under one year of age using a conservative method of dissection of the heart valve. The main aspects studied were the number of cusps and their morphometric characteristics, such as the width of the base and the depth of the cusps. Other parameters studied were the number of papillary muscles, number of tendinous cords, and diameter of the fibrous ring and the last one were divided in three regions, anterior, posterior and septal for localization of cusps. Our results showed that the number of cusps varied from two to four. Three cusps was the commonest finding and the fourth cusp, if present, was classified as anterolateral in location. The anterior and septal cusps had bases bigger than those of the posterior and anterolateral cusps; the septal cusp was deeper than the others; and the number of tendinous cords was greater for the anterior and septal cusps than for the posterior and anterolateral cusps. In addition, the posterior region showed great variability: in 35.7% it was occupied by undeveloped valve tissue and the posterior valve in these cases was located anteriorly.     

Continuity and Change in Preschool ADHD Symptoms: Longitudinal Genetic Analysis with Contrast Effects

The genetic and environmental mediation of continuity and change in parent-reported ADHD symptoms were investigated in a cohort of over 6000 twin pairs at 2, 3 and 4 years of age. Genetic analyses of the cross-sectional data yielded heritability estimates of 0.78–0.81 at each age, with contrast effects. A common pathway model provided the best fit to the longitudinal data, indicating that genetic influences underlie 91% of the stable variance in ADHD symptomatology. In other words, what is stable for ADHD symptoms is largely genetic. Contrast effects acting in the same direction at different ages contributed to the observed continuity:longitudinal correlations were greater for dizygotic than monozygotic twins.The Twins Early Development Study is funded by the Medical Research Council.     

The effect of passive smoking on asthma symptoms,atopy,and airway hyperresponsiveness in schoolchildren

Passive smoking is a major cause of respiratory morbidity, and is associated with increased bronchial responsiveness in children. To evaluate the effect of smoking by a parent on asthma symptoms, atopy, and airway hyperresponsiveness (AHR), we conducted a cross-sectional survey of 503 schoolchildren that involved questionnaires, spirometry, allergy testing, and a bronchial challenge test. If the PC20 methacholine was less than 16 mg/mL, the subject was considered to have AHR. The prevalence of a parent who smoked was 68.7%. The prevalence of AHR was 45.0%. The sensitization rate to common inhalant allergens was 32.6%. Nasal symptoms such as rhinorrhea, sneezing, nasal itching, and nasal obstruction were present in 42.7%. Asthma symptoms such as cough and wheezing were present in 55.4%. The asthma symptoms were significantly more prevalent in children who had a parent who smoked than in those whose parents did not. The nasal symptoms, atopy, and AHR did not differ according to whether a parent smoked. In a multiple logistic regression model, the asthma symptoms and atopy were independently associated with AHR, when adjusted for confounding variables. Passive smoking contributed to asthma symptoms in schoolchildren and was not an independent risk factor of airway hyperresponsiveness in an epidemiological survey.     

小儿慢性乙型肝炎外周血T细胞亚群和临床病理关系的研究

目的　探讨小儿慢性乙型肝炎细胞免疫功能与临床、病理的关系 ,了解其间的相关性。方法　研究对象为确诊的 94例 12岁以内慢性乙型肝炎住院患儿。常规检测血T细胞亚群等、血丙氨酸转氨酶 (ALT)水平、病毒学指标 ,并进行腹部B超、肝脏病理学检查。结果　有活动性肝脏病理炎症者CD4 CD8 升高 (P <0 0 5 ) ;女性比男性CD4 降低差异有非常显著意义 (P <0 0 1)、CD8 升高差异有显著意义 (P <0 0 5 )、CD4 CD8 降低差异有非常显著意义 (P <0 0 1) ;T淋巴细胞的异常改变与HBVDNA、PTA以及脾脏大小关系不明显。而各项观察的临床、病理指标与CD3 T淋巴细胞、B淋巴细胞均无明显相关性。结论　小儿慢性乙型肝炎患者机体存在细胞免疫功能失衡 ,其相关性表现在肝脏炎症损伤严重程度与T淋巴细胞功能的损伤有明显的相关性 ,女性对HBV的T淋巴细胞反应比男性更有利于清除HBV ,其预后及对抗病毒和免疫调节治疗反应较好。