哈萨克族青少年足型的研究

目的：了解哈萨克族青少年足型及发育趋势。研究对象和方法，对伊犁地区２４１３名哈萨克族青少年的足长足宽进行了测量。并按足长宽指数分型。结果：哈萨克族青少年的足长、足宽均随年龄的增长而增长，１７岁时核近成入水平，足长与足宽存在正相关关系，足型以中国型最多。     

神经前体细胞表达发育调控样基因rs4149601多态性与新疆哈萨克族人群中心性肥胖的关联研究

目的 研究神经前体细胞表达发育调控样基因rs4149601多态性与新疆哈萨克族人群中心性肥胖的相关性.方法 采取以人群为基础的横断面病例-对照研究方法,采用TaqMan聚合酶链反应对新疆哈萨克族856名自然人群(男性364名、女性492名;其中肥胖478例、对照378名)的rs4149601多态性进行分型,分析其与新疆哈萨克族人群肥胖的相关性.结果 共有853名的基因型分型成功,在总体女性新疆哈萨克族自然人群中,rs414960l多态性的基因型、等位基因在肥胖组及对照组分布差异有统计学意义(P＜0.05).在校正了年龄、吸烟、饮洒和性别等影响因素后,Logistics回归分析显示GG基因型仍与新疆哈萨克族人群中心性肥胖相关(OR=1.479,95%CI:1.103～1.983,P=0.009);协方差分析结果提示携带GG基因型者的腰围高于AA携带者+AG携带者(P=0.028).结论 神经前体细胞表达发育调控样基因的rs4149601多态性与新疆哈萨克族人群中心性肥胖相关,GG基因型可能是哈萨克族人群中心性肥胖的易感因素.     

延边地区农村儿童少年体型发育特点

目的：探讨我国农村儿童少年,尤其是朝鲜族儿童体型发育特点与规律。方法：应用Ｈｅａｔｈ－Ｃａｒｔｅｒ体型法,对延边地区农村７～１５岁汉族、朝鲜族儿童少年共３１１１人的体型发育进行了描述性比较分析。结果：汉族男孩在内因子、女孩的外因子、朝鲜族男、女孩在中因子方面各占优势;男孩大多属中、外胚层体型;两民族儿童在体型图上各有不同的分布规律。结论：汉族男孩体脂发育较好,女孩身材修长;朝鲜族儿童身材较短矮但体     

精神发育迟滞儿童父母抑郁及相关因素研究

目的:考察精神发育迟滞儿童父母的抑郁状况及其相关因素。方法:对157名精神发育迟滞儿童和青少年的父母采用应对策略问卷、照顾负担问卷、日常照料压力问卷、修订版家庭支持量表、一般自我效能感量表、罗森伯格自尊量表、流调中心用抑郁量表进行测评,对130名正常儿童父母采用流调中心用抑郁量表进行测评。结果:精神发育迟滞儿童及青少年父母的抑郁检出率为26.11%,其抑郁分数显著高于正常儿童父母。抑郁和照顾负担中的所有维度(时间负担、发展负担、身体负担、社会负担、情绪负担)都有显著正相关;抑郁和情绪中心解决策略倾向有显著正相关,和问题中心解决策略倾向有显著负相关;抑郁和家庭月收入有显著负相关;抑郁和日常照料压力有显著正相关,和自我效能及自尊有显著负相关。多元回归结果表明,对精神发育迟滞儿童及青少年父母抑郁总分贡献最大的因素是:照顾负担总分、问题中心应对策略、自尊和月收入。结论:精神发育迟滞儿童父母的抑郁水平显著高于正常儿童父母,照顾负担、应对策略、自尊水平和月收入与抑郁的形成有密切关联。     

功能性构音障碍儿童的智力水平和智力结构分析

目的：了解功能性构音障碍(FAD)儿童的智力水平和智力结构情况，探讨FAD与语言发育的关系方法：采用韦氏幼儿智力量表(C-WYCSI)对42例FAD的智力功能进行测试，并与47例正常对照组儿童进行比较；两组儿童表达生语言发育时间的比较采用t检验。结果：FAD组的总智商(FIQ)、言语智商(VIQ)及操作智商(PIQ)均在正常范围，但FIQ、PIQ显著低于对照组；智力结构中动物下蛋(AE)和木块图案(BD)分测量表分及知觉组织因子显著低于对照组；FAD组平均表达性语言发育时间为15个月，对照组为13个月．两组比较存在显著性差异。结论：FAD儿童总的智力水平正常，但PIQ、FIQ落后于正常儿童；FAD儿童存在语言发育延迟现象。     

那曲地区藏族青少年腕部骨龄评价

目的：探讨西藏那曲地区藏族青少年骨发育水平的变化趋势。方法：采用分层整群抽样调查的方法,随机选取父母为藏族、本人在那曲生活、经体检证明健康的1135例7～18岁青少年为研究对象,按CHN法进行手腕部骨龄评价。结果：骨龄与日历年龄呈高度正相关;随着年龄的增长,男性手腕部骨龄与日历年龄存在交叉,而女性骨龄均小于其日历年龄;骨龄性别差异表现为7～10岁年龄组男性大于女性,11～14岁年龄组男性与女性基本持平,而后男性又大于女性。结论：西藏那曲地区藏族青少年存在其独特的骨骼发育规律。     

北京城区16～30个月正常幼儿语法发育状况

目的：调查北京市城区正常幼儿语法发育水平，了解幼儿语法发育的趋势和特点，以便有针对性地对父母提供指导。方法：采用现况定量研究方法。用多阶段分层不等比例抽样方法在北京4个城区中的2个区抽取样本。用”中文早期语言与沟通发展量表”及个人背景问卷，对北京城区1056名16～30个月幼儿母亲或养护人进行面对面问卷调查。用中位数、均数描述幼儿语法发育趋势和特点，用两样本成组秩和检验比较男女童语法发育水平。结果：调查地区16～30个月龄正常幼儿会说语法表达结构中位数随月龄呈直线上升趋势。平均会说语法表达结构得分由16个月时的5分增加到24个月的67分，30个月时达91分。30个月时幼儿会说的语法表达结构已占量表表达结构总分的90％。儿童早期语法发育有较大的个体差异，月龄越小，个体差异越大。结论：女童在23个月前、男童在25个月前是语法发育的快速期和关键期。儿童早期语法发育有较大的个体差异。     

RWT法评价拉萨藏族儿童青少年膝部骨龄

目的：探讨拉萨藏族儿童青少年膝部骨发育规律。方法：随机选取世居拉萨、父母为藏族的7～21岁儿童青少年1 496名为研究对象,拍摄膝部X线片,以RWT法评价膝部骨龄。结果：骨龄与日历年龄高度相关;各年龄组骨龄显著小于日历年龄;骨龄存在性别差异。结论：RWT法可以预测骨龄;托萨藏族儿童青少年膝部骨龄小于日历年龄,提示该地区骨发育存在延缓的特点。     

中国新疆地区哈萨克族7～18岁中小学生体重指数分布和超重肥胖筛查参考值的建立

目的建立中国新疆地区哈萨克族7～18岁中小学生超重和肥胖的体重指数（BMI）百分位曲线和界值点参考标准。方法采用横断面调查研究,在中国新疆阿勒泰市及其所属乡镇的中小学采用整群随机抽样方法抽取4所学校（共49个班级）同意参加调查的哈萨克族7～18岁中小学生为调查对象。采集性别、年龄、身高和体重测量资料;应用偏度-中位数-变异系数法建立哈萨克族7～18岁中小学生的BMI百分位曲线;利用儿童青少年超重和肥胖的BMI百分位数曲线在18岁通过国际肥胖工作小组（IOTF）定义的成人超重和肥胖BMI界值点（25kg·m^-2/30kg·m^-2）和中国肥胖问题工作组（WGOC）定义的界值点（24kg·m^-2和28kg·m^-2）的方法,计算出哈萨克族7～18岁各年龄超重和肥胖的BMI界值点。结果共采集7～18岁中小学生2487名,其中男1158名,女1329名。①按照IOTF标准,超重和肥胖的BMI百分位曲线：男性分别为P88.63和P98.28,女性分别为P84.41和P98.12;按照WGOC标准,超重和肥胖的BMI百分位数曲线：男性分别为P92.96和P99.28,女性分别为P90.53和P99.38。②哈萨克族男性超重和肥胖BMI标准曲线低于WGOC和IOTF标准;女性肥胖标准曲线13～14岁前低于WGOC和IOTF标准,之后略高于WGOC和IOTF标准。③哈萨克族男性超重、肥胖的界值百分位曲线均低于或接近的汉族和维吾尔族水平;哈萨克族女性超重界值百分位曲线在14岁前介于汉族和维吾尔族间,之后接近或达到汉族水平;肥胖界值百分位曲线在10岁前低于汉族和维吾尔族水平,14岁后达到或接近汉族水平。结论儿童青少年BMI分布有显著的地域差异和民族差异,哈萨克族中小学生超重和肥胖BMI界值标准不同于IOTF和WGOC所建议的相应标准。因此哈萨克族中小学生超重、肥胖人群的筛查可以参考本研究建立的标准。     

精神发育迟滞和心理发育障碍——关于ICD-10的粗浅看法和有关ICD-11的初步建议

1993年ICD-10精神与行为障碍分类临床描述和诊断要点被引进我国.由于其较好地反映了既往精神医学界对精神发育迟滞和心理发育障碍的认识,因此,使我国儿童青少年精神科医师对精神发育迟滞和心理发育障碍有了更多的认识和了解,对我国儿童青少年精神科的临床工作起到了非常重要的指导作用.     

Spondyloepimetaphyseal dysplasia with multiple dislocations,leptodactylic type: report of a new patient and review of the literature

A 6-year-old boy with congenital hip dislocation, developmental delay, short stature, macrocephaly, low set ears, short neck, and hyperlaxity of the wrists and fingers is described. Radiographs disclosed mainly the presence of thoracic scoliosis, narrow interpedicular distances, metaphyseal vertical striations, very small irregular epiphyses, right hip dislocation, luxation of both elbows, and severe delay of ossification of the epiphyses and the carpal bones. These features are very close to the newly described entity: spondyloepimetaphyseal dysplasia and multiple dislocations. This patient brings to light the differential diagnosis and confirms the specificity of the radiological findings of this new entity.     

Epiphyseal maturity indicators at the knee and their relationship to chronological age: Results of an Irish population study

Skeletal maturation is divisible to three main components; the time of appearance of an ossification center, its change in morphology and time of fusion to a primary ossification center. With regard to the knee, the intermediate period between appearance and fusion of the ossification centers extends over a period of greater than 10 years. This study aims to investigate radiographically the age at which morphological changes of the epiphyses at the knee occur in a modern Irish population. Radiographs of 221 subjects (137 males; 84 females) aged 9–19 years were examined. Seven nonmetric indicators of maturity were assessed using criteria modified from the Roche, Wainer, and Thissen method and Pyle and Hoerr's atlas of the knee. Reference charts are presented which display the timeline for each of the grades of development of the seven indicators. Mean age was found to increase significantly with successive grades of development of each of the seven indicators. A significant difference was noted between males and females at the same grade of development for six of the seven indicators. The narrowest age range reported for a single grade of development was 2.2 years for Grade 2 of development of the tibial tuberosity for males. The information on changing morphology of the epiphyses at the knee in the present study may provide an adjunct to methods used for evaluation of skeletal maturity before surgery for orthopedic disorders or to evaluate skeletal age in clinical scenarios where either delayed or precocious skeletal maturation is suspected. Clin. Anat. 26:755–767, 2013. © 2012 Wiley Periodicals, Inc.     

Incidence and ossification of sesamoid bones in the hands and feet: a radiographic study in an Arab population

The incidence and ossification of sesamoid bones in the hands and feet were studied in 922 radiographs (400 hands and 522 feet) in an Arab population from Bahrain, 5-83 years of age and consisting of 549 adults (393 men and 156 women) and 373 children (286 boys and 97 girls). All radiographs of the hand and foot in the adult population showed two sesamoid bones in the thumb metacarpophalangeal (MCP) joint and in the hallucal metatarsophalangeal (MTP) joint, respectively. Only 2.3% and 1.5% of hands showed sesamoids at the MCP joints of the middle and ring fingers respectively compared to a reported incidence of 7.1% for each digit in Caucasians. The incidence of sesamoids in the MTP joints of third and fourth toes (0.6% each) and inferior to the hallucal interphalangeal joint (3.1%) is probably the lowest reported so far in the literature. In the hands, ossification commenced first in the thumb sesamoids, at the age of 10 years in females and 11 years in males and was completed by the age of 13 and 14 years, respectively. In the feet, ossification began first in the hallucal sesamoids at the age of 8 years in females and 9 years in males and was completed by the age of 10 years in both sexes. The incidence and ossification of sesamoids in the hands and feet in the Arab population from Bahrain seem to differ considerably from reports in other populations. The clinical significance of our findings is discussed.     

股骨下端骺微血管的观察

本文报道用微血管造影及组织切片的方法,观察了18例胚胎和10例儿童的股骨下端骺。结果发现仅关节软骨内无血管。而软骨骺内的血管分布有一定规律:从髁间窝来的血管分布于骺中心区域;两髁侧面来的血管分布于两髁外侧份;骺软骨板附近的血管主要来自髌面上方及髁间窝上方。骺骨化中心最早围绕软骨管发生。骨化向周围扩展的速度不均匀,靠近血管处比远离血管处扩展块。骺未化骨时,其内的血管处于软骨管内,在化骨过程中,部分转变为骨骺血管,继续供应骺骨化中心: 2岁前,仅由3～5支来自髁间窝的血管供应;2岁后,髌面上方来的血管也开始进入;5岁后,两髁侧面来的血管相继开始供应骺骨化中心。     

足副骨的X线观察

观察３４３５例儿童和１８１例成人足部Ｘ线片，确定国人民副骨的出现率和探讨其临床意义。共发现１６种副骨，儿童组出现率１６．８３％，成人组５８．５６％，两组间有显著差异，男１６．９７％，女２１．２９％，性别间有显著差异。外胫骨最多见，跖间骨出现最早（５岁）。足副骨较易诊断，但少数副骨可与骨折混淆，如外胫骨（４％）和三角骨（７％）形似撕脱骨折。     

Expanding spectrum of congenital disorder of glycosylation Ig (CDG-Ig): sibs with a unique skeletal dysplasia, hypogammaglobulinemia, cardiomyopathy, genital malformations, and early lethality

In this report, we describe a brother and sister who presented at birth with short-limb skeletal dysplasia, polyhydramnios, prematurity, and generalized edema. Dysmorphic features included broad nose, thick ears, thin lips, micrognathia, inverted nipples, ulnar deviation at the wrists, spatulate fingers, fifth finger camptodactyly, nail hypoplasia, and talipes equinovarus. Other features included short stature, microcephaly, psychomotor retardation, B-cell lymphopenic hypogammaglobulinemia, sensorineural deafness, retinal detachment and blindness, intestinal malrotation with poor gastrointestinal motility, persistent hyponatremia, intermittent hypoglycemia, and thrombocytopenia. Cardiac anomalies included PDA, VSD, hypertrophic cardiomyopathy, and arrhythmias. The brother had a small penis with hypospadias, hypoplastic scrotum, and non-palpable testes. Skeletal findings included absent ossification of cervical vertebral bodies, pubic bones, knee epiphyses, and tali. Both sibs died before age 2 years, one of overwhelming sepsis and the other of cardiorespiratory failure associated with her cardiomyopathy. Metabolic studies showed a type 1 pattern of abnormal serum transferrin glycosylation. Fibroblasts synthesized truncated LLOs, primarily Man(7)GlcNAc(2), suggestive of CDG-Ig. Both sibs were compound heterozygotes for a novel 301 G > A (G101R) mutation and a previously described 437 G > A (R146Q) mutation in ALG12. Congenital disorders of glycosylation should be considered for children with undiagnosed multi-system disease including neurodevelopmental delay, skeletal dysplasia, immune deficiency, male genital hypoplasia, and cardiomyopathy.     

跖趾骨生长发育的组织学观察

本文观察30例胚胎和尸体的跖趾骨形态,发现软骨膜骨化的骨领较软骨内骨化的中心出现稍早,骨领具有引导和限制骨化扩展方向的双重作用。跖趾骨两端均有生长带、骨化线和软骨膜环,提示无骺端也具有生长能力和塑型作用。远节趾骨的原发骨化中心发生于骨干远端,骨化只向近端扩展,远端无生长带、骨化线和软骨膜环,提示远节趾骨的远端(无跖端)无生长能力和塑型作用。     

A further case of opsismodysplasia with hydrocephalus

We present a case of opsismodysplasia, a very rare skeletal dysplasia, in a term newborn female who had short length, short extremities and markedly short fingers. Radiological studies demonstrated severe platyspondyly, absence of epiphyseal ossification centers, short tubular bones, especially severe in hands and feet, with metaphyseal cupping. She also had hydrocephaly, a rare finding in opsismodysplasia. In our literature review we have found 24 cases, 17 born alive and seven terminations of pregnancy (TOPs).     

A radiographic study of the longitudinal growth of primary ossification centers in limb long bones of the human fetus

This paper describes an extensive study of the growth of ossification centers in limb long bones of the human fetus from 8 to 26 weeks of conceptual age. Longitudinal measurements were made of the femur, tibia, fibula, humerus, radius, and ulna. Comparisons were made between bones on the left and right sides of the body and between the sexes. Standards are presented for the growth of these centers. They compare well with previous studies, any differences being accounted for by different methods of aging and measurement. A complicated picture of growth of the two sides of the fetal body is presented. Growth of the humerus, tibia, and fibula appears to be dominant on the left side of the body while growth in the femur is dominant on the right. At present, no explanation is available, but it is possible that factors such as manual dominance may be related. Evidence also is presented which suggests that the female fetus is in advance of the male in terms of ossification but only after 21 weeks gestation.     

New mental retardation syndrome with hearing impairment, distinct facial appearance, and skeletal anomalies.

We present 2 unrelated children with a distinct pattern of anomalies, including mental retardation, hearing impairment, unusual facial appearance, and skeletal defects. Both children have severe behavior disturbance and hyperactivity. The characteristic facial findings include a broad mouth, broad nasal bridge, mildly anteverted nares with a fleshy nasal tip, and deep nasolabial folds. Skeletal findings include mild to moderate short stature, dysharmonic maturation of epiphyseal ossification centers in the hands, and mild scoliosis.