招风耳畸形的家系分析

招风耳畸形症状对人体健康并计影响,故目前对该症的研究甚少。为了对这一畸形症状的遗传规律有所了解,笔者对一张姓家系进行了调查。 调查结果,在这一家系中共有招风耳畸形者8人,即光证者及其祖母、父亲、1子2女、侄儿和侄孙。其中女性3人,男性5人,延续了5     

人胚胎干细胞建系的研究现状与存在的问题

人胚胎干细胞系的建立,对人类胚胎发生和人类发育生物学研究、人类新基因的发现和功能研究以及基因治疗、细胞和组织的移植治疗等领域的突破性进展具有重大意义;回顾了人胚胎干细胞建系研究的历程,就建系的几种方案、路线、意义和可行性进行了探讨;详细系统地说明了迄今为止建立人胚胎干细胞系所需要的饲养层类型、培养基组成、添加细胞因子种类及其作用;分析了建立和维持人胚胎干细胞系所需消化酶的种类及其作用以及目前常用的几种传代方法;从若干方面总结了人胚胎干细胞系的鉴定方法,并对建立和维持人胚胎干细胞系中存在的若干问题进行了剖析,提出了目前急待解决的问题。     

单克隆人胰腺干细胞分离培养体系的建立

本研究探讨了建立单克隆人胰腺干细胞分离培养体系及单克隆人胰腺干细胞系．对一些影响干细胞增殖的因素进行了分析。无菌取人流产胎儿胰腺组织,切碎至1mm3,0．1％ Ⅳ型胶原酶消化,低糖DMEM、10％FBS、3．7g／LNaHCO3、0．08g／L青霉素及0．1g/L链霉素培养液贴壁培养细胞,2．5g／L胰蛋白酶＋0．4g／LEDTA消化传代。克隆环筛选单克隆干细胞,培养液中添加10ng／mLEGF．扩增单克隆干细胞。采用核型分析法检测干细胞染色体,MTT法测定干细胞生长曲线。胶原酶消化胰腺组织．获得单个细胞和细胞团。贴壁培养．原代上皮样胰腺干细胞克隆性生长。胰蛋白酶消化传代,上皮样胰腺干细胞逐渐被纯化。克隆环筛选,获得单克隆人胰腺干细胞。扩增培养,1例来源于4月龄男性流产胎儿胰腺组织干细胞建系,传50代。染色体核型分析．该干细胞系为正常的二倍体细胞。细胞生长曲线显示培养1—4d,干细胞生长缓慢,5-6d,进入倍增期。培养液中添加15％FBS,干细胞增殖较快。再添加15ng／mLEGF或10ng／mL IGF—Ⅱ．干细胞增殖更快。研究结果表明应用本实验建立的细胞分离培养体系获得了单克隆人胰腺干细胞系。     

西藏藏族青少年体型

为了探讨藏族青少年体型发育特征及其规律, 本文应用Heath-Carter体型法对2530名藏族青少年体型进行评价。结果发现, 藏族青少年的平均体型男性为偏中胚层的外胚层型(2.40—3.29—3.72),女性为中间型(3.65—2.87—3.32); 男性的体型以外胚层系体型为主(58.52%), 女性体型以内胚层系(32.62%)和外胚层系为主(35.40%); 随着年龄的增长, 藏族青少年的体型发展有一定的规律, 男性由中胚层-外胚层均衡型经偏中胚层的外胚层型又发展回中胚层-外胚层均衡型, 女性由中胚层-外胚层均衡型经历均衡的外胚层型发展为均衡的内胚层型。因此, 本文认为,藏族男性青少年身体的线性程度高、外形上比较瘦削、肌肉较发达; 藏族女性青少年较男性身体的脂肪含量多、线性程度相对较高。     

从体质特征看中国南方汉族的人种归属

2009年至2012年研究组调查了中国南方汉族15154例(男性为7340例,女性为7814例)的身高、体重和16项测量指标,并计算出12项指数,将南方汉族与蒙古人种北亚类型族群、南亚类型族群及东亚类型族群的韩国人、日本人进行了比较。结果显示:1)南方汉族头面部主要指标介于北亚、南亚类型族群之间;南方汉族男性更接近于北亚类型族群,而南方汉族女性比男性头面部特征更接近南亚类型族群。2)南方汉族男性头部的长、宽、高、围度小于东亚类型族群,面部比韩国人、日本人狭窄;南方汉族女性头的长、宽、围度、下颌角间宽值小于韩国人、日本人,头较高,面部比韩国人、日本人狭窄。南方汉族男性、女性与韩国人、日本人体质差异较大。3)聚类分析结果提示,中国南方汉族与韩国人、日本人体质差异较大。南方汉族男性体质相对接近于北亚类型族群,女性体质介于北亚、南亚类型族群之间。华南汉族体质在南方汉族中有一定的特殊性。     

闽南人的体质特征

在福建漳州地区调查了322例男性(城市男性为149例,乡村汉族男性为173例)和357例女性(城市女性为164例,乡村女性为193例)成人的86项体质指标,计算了24项体质指数,统计了指数分型情况,与我国族群资料进行了比较,对闽南人体质特征进行了初步分析。结果 1)闽南人有皱褶率高,有蒙古褶率低,眼裂高度眼裂多为狭窄型,眼外角多高于眼内角,鼻根高度多为中等型,直鼻背,颧部突出度多为微弱型;鼻基部男性多呈水平,女性多呈上翘;鼻翼高度多为中等,鼻孔最大径多为斜位,鼻翼较宽;男性耳垂多为圆形,女性多为三角形;上唇皮肤部高度多为中等,红唇男性薄型率、中等型均较高,女性薄型率最高,发黑,肤黄、眼褐。2)总体说来,闽南人头面部测量指标值介于北亚、南亚类型族群之间。3)从指数均数来看,闽南人男女性均为圆头型、高头型、狭面型,狭鼻型。城市女性为狭头型,城市男性、乡村男性、乡村女性为中头型。闽南人头面部指数值更接近于南亚类型族群。4)从体部指标值和体部指数来看。闽南人更接近于北亚类型族群。闽南人体质介于南亚与北亚类型族群之间,男性相对接近于北亚类型族群,女性相对接近于南亚类型族群。     

广东从化县班氏丝虫病之调查

1．本文报告在广东从化县街口镇及其周围60公里以内的地区作丝虫病调查之结果,发现了从化县有褓虫病流行,并证明其流行分布可能局限在街口镇。在街口镇检查了正式农业八口1,450名,包括血液和体格检查在内,查获丝虫病戚染者415人,为28．62％;存吕田和太平埸附近的村庄分别检查174及307人的血液,结果均未查见微丝蚴;在石坑和良口咐近的村庄分别检查434及396人的血液,查获微丝蚴者有4人为0．92％及1人为0．25％。 2．所查见的微丝蚴经鉴定均为班氏种。 3．街口的丝虫病感染率与年龄成正比,有年龄愈大感染率愈高之趋势,41—50岁年龄粗的感染率最高,达54．49％。 4．街口的丝虫病患者男性较女性多,原因可能是由于班氏稀虫很少引起女性生殖系体征之故。 5．街口镇人房内蚊类粗成以疲乏库蚊数量最大,解剖1,134只疲乏库蚊,感染率为7．4%,并找到发育成熟的戚染期幼丝虫,证明疲乏库蚊是这个地区班氏丝虫的传染媒介。 6．检查1,450人所见的临床征状主要是乳糜尿与生殖系体征：四肢淋巴系方面,仅仅发琨下肢有轻度象皮肿者2例。分析乳糜尿史者58人,男女均相似(男占15．15％,女占11．92％);生殖系有体征者均为男性患者,女性者无发现。 7．本文首对丝虫病的调查、流行分布和临床特点等,并曾温习了国内外文献略为讨渝。     

云南省迪庆州城乡居民蔬菜水果、动物性食物摄入状况的分析

目的：了解迪庆州城乡居民蔬菜水果、动物性食物摄入状况,为该地区居民平衡膳食、合理营养提出建议。方法：采用多阶段分层整群抽样的方法抽取调查户,在调查户中随机抽取符合条件的调查对象。由培训合格的调查员开展面对面问卷调查。Epidata 3.1录入数据并核查数据质量,SPSS 19.0分析数据。结果：共调查3 650人,有效问卷3 590份。其中男性1 406人（39.2%）、女性2 184人（60.8%）;以15～44岁人口占多数,共1 778人（49.5%）,其中,城市居民845人（23.5%）、农村居民2 745人（76.5%）。迪庆州15岁及以上居民平均每人每日摄入蔬菜（男性191.8g、女性176.3g）、水果（男性124.7g、女性123.0g）、畜禽肉类（男性123.0g、104.5g）、蛋类（男性33.5g、女性33.1g）、水产品（男性9.5g、女性10.3g）。根据《中国居民膳食指南（2016）》的建议,该地区居民蔬菜、水果摄入未达标,动物性食物总量达标,但是畜禽肉类明显超标。结论：迪庆州城乡居民膳食结构仍然不合理,应加强倡导合理膳食,建议该地居民增加蔬菜、水果、蛋类、水产品摄入量,减少猪牛羊等红肉类摄入量。     

脊柱骨骺发育不良的X线诊断

脊柱骨骺发育不良是因先天性脊椎、四肢大关节和骨盆骨发育障碍,而致的短躯干和短肢体侏儒。本病系常染色体显性或隐性遗传病,多有家族发病史,以男性发病多见。     

247例人乳头瘤病毒的PCR检测结果分析

２４７例生殖系分泌物标本用ＰＣＲ检测人乳头瘤病毒ＨＰＶ－ＤＮＡ。结果显示：阳性感染率达８７．６％,在与临床疾病密切的亚型中,６、１１型感染率（６０％）,高于１６、１８型感染率（５１．６％）,但统计学处理没有显著性差异。女性发病率明显高于男性。易感人群组以２０～４０岁最高（占感染人数的８４．４％）,并且有年轻化的趋势（１０～２０岁年龄组占８．４％）。     

The incidences of spontaneous fetal anomalies in Japanese white rabbits (author's transl)]

The incidences of spontaneous fetal anomalies in coccidium-free Japanese white rabbits bred and kept in our laboratories are reported. Live fetuses were removed from 87 (95.6%) out of 91 maternal animals examined, totaling 538 (295 males and 243 females). of them, 9 fetuses (1.7%) showed external and visceral abnormalities such as hydrocephalia (5 cases), short tail (2), anophthalmia (1) and talipomanus flexa (1). Skeletal abnormalities were found in 7 (1.7%) of 424 fetues examined.     

Whole-exome sequencing identifies mutations of KIF22 in spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type

Spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL), leptodactylic (lepto-SEMDJL) or Hall type, is an autosomal-dominant skeletal dysplasia manifesting with short stature, joint laxity with dislocation(s), limb malalignment, and spinal deformity. Its causative gene mutation has not yet been discovered. We captured and sequenced the exomes of eight affected individuals in six unrelated kindreds (three individuals in a family and five simplex individuals). Five novel sequence variants in KIF22, which encodes a member of the kinesin-like protein family, were identified in seven individuals. Sanger sequencing of KIF22 confirmed that c.443C>T (p.Pro148Ser) cosegregated with the phenotype in the affected individuals in the family; c.442C>T (p.Pro148Leu) or c.446G>A (p.Arg149Gln) was present in four of five simplex individuals, but was absent in unaffected individuals in their family and 505 normal cohorts. KIF22 mRNA was detected in human bone, cartilage, joint capsule, ligament, skin, and primary cultured chondrocytes. In silico analysis of KIF22 protein structure indicates that Pro148 and Arg149 are important in maintaining hydrogen bonds in the ATP binding and motor domains of KIF22. We conclude that these mutations in KIF22 cause lepto-SEMDJL.     

Family Perception and 6-Month Symptomatic and Functioning Outcomes in Young Adolescents at Clinical High Risk for Psychosis in a General Population in China

Background and Aims

Given the difficulty of treating schizophrenia and other forms of psychosis, researchers have shifted focus to early detection and intervention of individuals at clinical high risk (CHR) for psychosis. Previous studies have shown that elements in family functioning could predict symptom outcome in CHR individuals. However, associations between self reported family functioning and symptom or functioning outcome of CHR individuals was rarely reported. Our study aimed to investigate the characteristics and the role of family functioning in the development of CHR individuals among young adolescents.

Methods

A sample of 32 CHR individuals was recruited from 2800 university students. The characteristics of family perception were evaluated by both Family Assessment Device (FAD) and Family cohesion and adaptability evaluation Scale II (FACES II). 6 month follow up data was available with 25 of the recruited CHR individuals. Baseline socio-demographic characteristics and family functioning were compared between CHR and control group. We also measured the associations between different dimensions of perceived family functioning and both severity of prodromal symptoms and global functioning at baseline and 6-month follow up.

Results

CHR individuals showed more maladaptive family functioning compared to control in nearly all of the dimensions of FAD and FACES II except for Affective Involvement. Better Problem Solving and Affective Responsiveness predicted less severe positive and negative symptoms respectively. Family cohesion and adaptability were not only correlated with the baseline severity of general symptoms, but also positively associated with the general and disorganized symptom outcome.

Conclusions

This study contributed preliminary evidence towards the associations between family perception and symptom outcome of CHR individuals. It also provided evidence for the importance of family interventions on CHR individuals.     

Towards rapid bioassessment of wadeable streams in Brazil: Development of the Guapiaçu-Macau Multimetric Index (GMMI) based on benthic macroinvertebrates

We developed a multimetric index based on macroinvertebrates to assess ecological condition of wadeable streams in Rio de Janeiro State, southeast Brazil. To do so we used a set of 12 reference and 12 severely impaired sites sampled in the summer wet season as calibration sites. Nine metrics were selected based on their abilities to distinguish between reference and impaired sites and their independence from other metrics. Metrics retained in the final index were: family richness; Trichoptera family richness; Shannon family diversity; % Plecoptera individuals; % Ephemeroptera, Plecoptera and Trichoptera (EPT) individuals; % mollusk and Diptera individuals; % shredder individuals; proportion Chironomidae/Diptera individuals; and proportion Hydropsychidae/Trichoptera individuals. The final 9 metrics were standardized; then the Guapiaçu-Macau Multimetric Index (GMMI) was calculated, yielding a final index score ranging from 0 to 100. We validated the index through use of 19 sites subject to different levels of impairment, sampled both in summer and in winter. Our final multimetric index distinguished well between different levels of impairment and was strongly correlated with other disturbance measures. Temporal stability was also tested through use of 8 sites that were sampled in both seasons, and results showed no significant changes in the index final score among seasons. Our research represents one of the first initiatives in Brazil to develop a multimetric index for use in a spatially extensive bioassessment program extending across substantial natural and disturbance gradients. It can be a useful tool to help conserve streams in Atlantic forest conservation areas. We suggest that the methodology established here offers a foundation for similar index development and assessments in Brazil.     

Estimation of the number of full sibling families at an oviposition site using RAPD-PCR markers: applications to the mosquito Aedes aegypti

There are many species in which groups of individuals encountered in the field are known to consist of mixtures of full-sibling families. We describe a statistical technique, based on the use of random amplified polymorphic DNA-polymerase chain reaction (RAPD-PCR) markers, that allows for the estimation of the number of families contained in these groups. We test the technique on full-sibling families of the mosquito Aedes aegypti, a species that distributes its eggs among several locations. Mixtures of 10 families with 15 individuals per family were analyzed using 40 RAPD-PCR loci amplified by 5 primers. Our analysis accurately estimated the number of families. The technique was accurate when the number of families was small or when family sizes were small and variable.     

Sibship within samples of brown trout (<Emphasis Type="Italic">Salmo trutta</Emphasis>) and implications for supportive breeding

We analysed family relationships among brown trout from two small tributary populations that have been suggested as a source of individuals for supportive breeding, using variation at eight microsatellite loci. As a control, we analysed a sample of supposedly unrelated individuals representing a large anadromous population, and we simulated unrelated individuals based on the allelic distributions in all three samples. Two different approaches were used: (1) pairwise estimates of relatedness between individuals and (2) a method for partitioning individuals into half-sib and full-sib families. The anadromous population did not show evidence of a significant number of closely related individuals. In both tributary populations, however, the distributions of pairwise relatedness estimates suggested the presence of several related individuals, and sibship reconstruction suggested fewer families consisting of more individuals than were observed for the simulated individuals. The expected increase of inbreeding coefficient in the two samples due to family structure was 0.026 and 0.030 respectively. Moreover, tests for recent bottlenecks yielded significant outcomes in both populations suggesting a history of low effective population sizes. Depending on the effective population size of captive spawners and past effective population sizes in the populations it could be beneficial to conduct sib-avoidance matings, though this cannot eliminate inbreeding but only delay it. Alternatively, individuals from different populations could be crossed. Sibship reconstruction provided the clearest evidence for family structure, but pairwise relatedness is the best measure for designing mating schemes, as it allows for mating as unrelated individuals as possible rather than just avoiding mating between sibs.     

自由生活的橙腹田鼠中是否有配偶选择?来自野外数据的证据

使用在长期研究橙腹田鼠的社会组织中收集的数据 ,我们研究了该物种配对的形成和解体。大多数在春季形成的配对包括了各公社群 (包括至少两个同性个体的群 )过冬后的生存者。无论雌、雄个体是否来自相同或不同的的公社群 ,配对的个体都不是同一家庭的成员。春秋季形成的新配对 ,通常包括一直在研究地游荡的无亲缘关系的个体。所以 ,我们的野外数据表明 ,橙腹田鼠避免与家庭成员配对 ;但是没证据表明自由生活的橙腹田鼠以体重为基础来进行配偶选择 ,也没证据表明在野外或半自然的实验室条件下 ,雌性个体偏好有性经历的雄性个体。在我们研究的种群中 ,配对分离的个体都具有一个特征 ,即分离前的繁殖成功率比未分离的配对个体低。在任何特定的时间内 ,由于雌、雄性个体的潜在配偶的数量有限 ,所以 ,几乎没有个体有机会同时比较两个或更多潜在配偶的特征。结果表明 :我们所研究的种群中的配对是机会主义式的 ,个体与第一个能得到的配偶形成配对关系     

Spatial and Temporal Activity Patterns of the Free-Living Giant Mole-Rat (Fukomys mechowii), the Largest Social Bathyergid

Despite the considerable attention devoted to the biology of social species of African mole-rats (Bathyergidae, Rodentia), knowledge is lacking about their behaviour under natural conditions. We studied activity of the largest social bathyergid, the giant mole-rat Fukomys mechowii, in its natural habitat in Zambia using radio-telemetry. We radio-tracked six individuals during three continuous 72-h sessions. Five of these individuals, including a breeding male, belonged to a single family group; the remaining female was probably a solitary disperser. The non-breeders of the family were active (i.e. outside the nest) 5.8 hours per 24h-day with the activity split into 6.5 short bouts. The activity was more concentrated in the night hours, when the animals also travelled longer distances from the nest. The breeding male spent only 3.2 hours per day outside the nest, utilizing less than 20% of the whole family home range. The dispersing female displayed a much different activity pattern than the family members. Her 8.0 hours of outside-nest activity per day were split into 4.6 bouts which were twice as long as in the family non-breeders. Her activity peak in the late afternoon coincided with the temperature maximum in the depth of 10 cm (roughly the depth of the foraging tunnels). Our results suggest that the breeding individuals (at least males) contribute very little to the work of the family group. Nevertheless, the amount of an individual''s activity and its daily pattern are probably flexible in this species and can be modified in response to actual environmental and social conditions.     

A differential proteomics study of cerebrospinal fluid from individuals with Niemann-Pick disease,Type C1

Niemann-Pick, type C1 (NPC1) is a fatal, neurodegenerative disease, which belongs to the family of lysosomal diseases. In NPC1, endo/lysosomal accumulation of unesterified cholesterol and sphingolipids arise from improper intracellular trafficking resulting in multi-organ dysfunction. With the proximity between the brain and cerebrospinal fluid (CSF), performing differential proteomics provides a means to shed light to changes occurring in the brain. In this study, CSF samples obtained from NPC1 individuals and unaffected controls were used for protein biomarker identification. A subset of these individuals with NPC1 are being treated with miglustat, a glycosphingolipid synthesis inhibitor. Of the 300 identified proteins, 71 proteins were altered in individuals with NPC1 compared to controls including cathepsin D, and members of the complement family. Included are a report of 10 potential markers for monitoring therapeutic treatment. We observed that pro-neuropeptide Y (NPY) was significantly increased in NPC1 individuals relative to healthy controls; however, individuals treated with miglustat displayed levels comparable to healthy controls. In further investigation, NPY levels in a NPC1 mouse model corroborated our findings. We posit that NPY could be a potential therapeutic target for NPC1 due to its multiple roles in the central nervous system such as attenuating neuroinflammation and reducing excitotoxicity.     

The c.42_52del11 Mutation in TPRN and Progressive Hearing Loss in a Family from Pakistan

The DFNB79 locus harbors TPRN mutations in which have been reported in a few families with deafness. Four frameshift mutations in TPRN have been described to cause severe or severe-to-profound hearing loss in Moroccan and Pakistani families, and a single frameshift mutation was associated with progressive hearing loss in deaf individuals in a Dutch family. We identified a Pakistani family in which the affected individuals were homozygous for a pathogenic mutation, c.42_52del11, in TPRN (p.G15Afs150X). In contrast to the previously reported individuals affected by the same mutation, hearing loss is likely to be progressive in this family. Thus the same mutation of TPRN can be associated with different thresholds of hearing as well as differences in the stability of the phenotype.