Tall stature,microcephaly, hypotonia,advanced bone age,and unusual infra-auricular creases

The patient is a 16-month-old girl with tall stature, hypotonia, unusual facial appearance, acquired microcephaly, advanced bone age without apparent sexual precocity or acromegaly, and symmetric horizontal creases below the earlobes. Her combination of anomalies appears to constitute a previously unreported syndrome. Am. J. Med. Genet. 75:261–262, 1998. © 1998 Wiley-Liss, Inc.     

Growth retardation and delayed puberty in children and adolescents with juvenile idiopathic arthritis

Juvenile idiopathic arthritis (JIA) is the most common joint disorder in developing children. Juvenile idiopathic arthritis is difficult to diagnose and treat. In some patients, signs and symptoms can be frustratingly inconsistent, contradictory or idiosyncratic. Short stature in patients with JIA is usually due to reduced growth in the lower extremities, and only rarely due to reduced growth in the spinal column. In some studies, children with JIA were found to have infantile body proportions. Puberty is delayed in children with JIA. In children with chronic arthritic disorders, there is a strong correlation between the activity of the disease and the age of puberty. The main goals in reducing growth retardation in children with JIA are promoting timely remission and reducing the duration and dosage of corticosteroid treatment. It is important to regularly monitor physical development. Further improvements to the treatment protocol depend on continued interdisciplinary research involving paediatricians, rheumatologists and clinical anthropologists.     

Mothers', fathers', and children's perceptions of parental diabetes responsibility in adolescence: examining the roles of age, pubertal status, and efficacy

Objectives To examine how perceptions of parental responsibilityfor diabetes management are associated with age, pubertal status,adolescents’ self-efficacy, and parental perceptions ofadolescents’ efficacy, and if parental responsibilityis associated with better metabolic control as a function ofadolescents’ self-efficacy and parental perceptions ofadolescents’ efficacy. Methods Questionnairesassessing parental responsibility, pubertal status, adolescents’self-efficacy, and parental perceptions of adolescents’efficacy were given to 185 adolescents with type 1 diabetes,185 mothers, and 145 fathers. Results Greater parentalresponsibility was negatively associated with age, perceptionsof pubertal status, and efficacy for all reporters. Interactionsbetween parental responsibility and parental perceptions ofadolescents’ efficacy indicated that parental responsibilitywas associated with better metabolic control when adolescentswere perceived to have lower efficacy. Conclusions Adolescents’and parents’ perceptions of parental responsibility arerelated to multiple factors. Metabolic control is best whenhigh parental responsibility is maintained among adolescentswith lower efficacy.     

雌激素受体-α基因Xba Ⅰ、 Pvu Ⅱ和BstU Ⅰ多态性与男性骨量的关系

目的 了解雌激素受体-α（estrogen receptor-α,ER-α）基因多态性与男性骨密度（bone mineral density,BMD）的关系。方法 PCR-限制性片段长度多态性检测上海市388名46－80岁无血缘关系的健康汉族男性ER-α基因XhaⅠ、Pvu Ⅱ和BstUⅠ多态性，双能X线吸收仪检查腰椎1－4（L1-4）和股骨近端股骨颈（femoral neck）、大转子区（trochanter）和Ward＇s三角部位BMD。结果 被研究人群XhaⅠ和Pvu Ⅱ等位基因频率分布符合Hardy-Weinberg定律。未发现ER-α基因第1外显子区存在BstUⅠ多态性，所有对象均是BB基因型。XhaⅠ多态性与各部位BMD值均无相关；Pvu Ⅱ多态性与L1-4和Ward＇s三角部位BMD值均有关联（P＜0.05），Pp基因型在上部位平均BMD值明显高于PP和pp基因型（P＜0.05）。结论 本研究结果提示中国汉族人群缺乏或罕有ER-α基因BstUⅠ多态性；ER-α基因PvuⅡ多态性可能影响老年男性松质骨骨量的丢失。     

Cytogenetic,epidemiological and clinical profile of children with Down syndrome in Karnataka

Introduction

Down syndrome is one of the best recognized and the most common chromosomal aneuploidy with high life expectancy than other chromosomal aneuploidies. The clinical features are quite distinguishing and easily identifiable, but a karyotype analysis is always better to confirm the diagnosis. It is also needed for calculating the risk of recurrence and for genetic counseling. This study was done to analyze the clinical features, cytogenetic and epidemiological profile of Down syndrome children in Tumkur and Bangalore region of Karnataka.

三种不同年龄人骨髓间充质干细胞的生物学性状

目的：比较老年人、成人和胎儿骨髓间充质干细胞（MSCs）的生物学性状,为选择抗砷细胞的种子细胞提供实验依据。方法：取老年人、成人和胎儿骨髓MSCs,在α-MEM培养液中进行骨髓MSCs培养,测定生长曲线、细胞贴壁率及NaAsO2对骨髓MSCs的细胞毒作用。结果：老年人、成人和胎儿骨髓MSCs在细胞形态、生长特性等方面是相似的,胎儿骨髓MSCs的扩增潜能明显强于成人和老年人骨髓MSCs,对NaAsO2的耐受性也较成人和老年人骨髓MSCs高。结论：从老年人、成人及胎儿骨髓中可分离培养出骨髓MSCs,在体外保持有效扩增能力。胎儿骨髓MSCs较成人和老年人骨髓MSCs更原始,具有更大的体外扩增潜能,可做为抗砷细胞的种子细胞。     

Microcephaly, seizures, genital hypoplasia, and abnormalities of the hands and feet in a 4-year-old boy with possible Wiedemann syndrome

We report on a 4-year-old boy with short stature, microcephaly, BNS ( Blitz-Nick -Salaam) seizures, and global developmental delay. In addition, small and fleshy hands and feet as well as hypoplastic scrotum and testes were observed. The clinical features of the patient are compared with the patients previously described by Wiedemann et al. and Nevin et al. They reported three patients with a syndrome characterized by short stature, microcephaly, global developmental delay, abnormalities of hands and feet, seizures, large anterior fontanelle, scrotal hypoplasia, micropenis, cryptorchism, urinary tract abnormalities, and inguinal hernia (Wiedemann syndrome).     

Bone mineral density,bone turnover markers,lean mass,and fat mass in Egyptian children with congenital adrenal hyperplasia

Introduction

Aim of this paper is to assess bone mineral density (BMD) and body composition, by dual energy X-ray absorptiometry (DXA), and various markers of bone growth, in a group of children with congenital adrenal hyperplasia (CAH) on long-term glucocorticoid therapy.

Material and methods

A case-control study included thirty patients with CAH with different states of metabolic control. Their mean age was 7.5 ±4.2 years. All patients are subjected to BMD using DXA at the neck of the femur and lumbar spine. A blood sample was taken for assessment of osteocalcin, osteoprotegerin, and procollagen type 1, as markers of bone formation, as well as RANKL and urinary deoxypyridinoline (DPD), as markers of bone resorption.

Results

We found no difference in BMD in patients and control subjects; however, patients showed significantly lower serum osteocalcin (p = 0.008) and osteoprotegerin (p = 0.0001) and significantly higher serum RANKL levels (p = 0.0001). Our results show that patients had significantly lower lean body mass (p = 0.005) and fat/lean ratio (p = 0.008) compared to matched controls. The duration of treatment showed a significant negative correlation with procollagen type 1 (r = –0.49, p = 0.02) and lean mass % (r = –0.43, p = 0.04); however, it showed a significant positive correlation with total fat mass % (r = 0.6, p = 0.0006), and fat/lean ratio (r = 0.43, p = 0.04). Dose of steroid had a significant positive correlation with BMI SDS (r = 0.4, p = 0.02).

Conclusions

Bone mineral density is normal but bone turnover is low in patients with CAH. There is an increase in fat/lean mass in patients with CAH.     

Increase in pore area, and not pore density, is the main determinant in the development of porosity in human cortical bone

This study investigated the relative contributions of pore size and pore density (number of pores per mm2) to porosity in the midshaft of the human femur. Cross-sections were obtained from 168 individuals from a modern Australian population (mostly Anglo-Celtic). The study group comprised 73 females and 95 males, aged from 20 to 97 years. Microradiographs were made of 100-microm sections and porosity, pore areas and pore densities determined using image processing software. The cortex was divided into three rings radially and into octants circumferentially, and the porosity, pore area and pore density of each segment were calculated. Results show that 81% of the variance in porosity can be explained by changes in mean pore area with only a further 12-16% explained by changes in pore density. These effects were found to be constant across all areas of the cortex and in both sexes. These results are significant in their consistency and ordered gradation and indicate a well-regulated and systematic process of bone removal with ageing. The results show a regular progression from less porous to more porous bone; this is a uniform process that occurs in all individuals, and factors such as sex and rate of ageing determine where on this continuum any individual is at a particular time.     

Differences in development and the prevalence of obesity among children and adolescents in different socioeconomic status districts in Shandong,China

Background: There are wide-ranging differences in human growth, not only between ethnic groups but also between regions. Shandong is one of the most populous provinces in China, with inequalities of regional economic status. However, no studies on the differences in development among children and adolescents in different districts have been reported.

Aim: This study assessed the differences in height, weight and prevalence of obesity among children and adolescents of different socioeconomic status (SES) districts in Shandong, China.

Subjects and methods: Data for this study were obtained from a large cross-sectional survey of schoolchildren. A total of 42 286 students (21 222 boys and 21 064 girls) aged 7–18 years from 16 districts participated in this study. Height and weight of all subjects were measured and BMI was calculated from their height and weight. Prevalence rates of obesity and overweight were determined by comparing calculated BMIs (kg/m²) to International Obesity Task Force (IOTF) cut-offs. Each of the 16 districts was assigned an SES ranking (low, moderate, high) based on per capita GDP and income in urban and rural areas. Comparisons of height, weight and the prevalence of overweight and obesity among different groups were made.

Results: Significant differences between SES groups were observed for height, weight and the prevalence of overweight and obesity. Boys and girls from high SES group were taller, heavier and more likely to be obese than their peers from moderate and low SES groups. The prevalences of combined overweight and obesity in the three SES groups were 18.46%, 21.08% and 27.31% in boys and 10.43%, 12.42% and 15.18% in girls, respectively.

Conclusion: There have been obvious regional variations in development and the prevalence of obesity in children and adolescents in Shandong, China, These variations in development and prevalence of obesity in children and adolescents among different SES districts being related to the local SES, process of urbanization, living environments, nutritional status, dietary pattern, physical activity and public health.     

Frequency and diagnostic value of the virus-like filamentous intranuclear inclusions in giant cell tumor of bone,not associated with Paget's disease

Summary This paper deals with the paramyxovirus-like intranuclear inclusions observed in giant cells tumours of bone (GCTB). Twenty-one (49%) of 43 cases of GCTB (1977–1985), either fresh and/ or cultured, show these ultrastructural inclusions.Fifty samples of various bone lesions in which giant cell lesions occurred, including aneurysmal cysts, hyperparathyroidism, osteoblastoma, human and rat osteopetrosis, GCT of tendon sheaths, and non skeletal granuloma were used as controls. These, together with 20 samples of normal bone (osteoclasts) did not contain intranuclear or intracytoplasmic viral inclusions.     

Ectopic ossicles associated with metacercariae of Apophallus brevis (Trematoda) in yellow perch, Perca ftavescens (Teleostei): development and identification of hone and chondroid bone

This paper describes the development and tissues in mineralized ossicles in the musculature of Perca flavescens infected with metacercariae of the trematode Apophallus brevis. Analysis involved light microscopy, transmission and scanning electron microscopy, X-ray scanning electron microprobe analysis, and tetracycline labelling. Two to 14 days post-infection, fibroblast-like host cells stream towards the parasite cyst forming a fusiform cellular capsule. By 14 days post-infection the capsule differentiates into an inner hypertrophied layer, an extensive middle layer of fibroblast-like cells, and a thin outer layer of flattened fibroblast-like cells forming a fibrous sheath at the capsule/muscle interface. From 21–35 days post-infection, a bony tissue is deposited periosteally in an equatorial ring around the cyst. With time, additional tissue is secreted over the ring increasing its thickness and advancing the matrix front towards the poles of the ossicle. Plump osteoblast-like cells cover the developing ossicle and may become trapped within the matrix in lacunae encapsulated by collagen. By 63 days post-infection, medium-sized ossicles are morphologically similar to large cysts from perch captured in the wild; ovoid with two polarized canals, but lacking acellular or lamellar bone-like tissue. Mineralized ossicles contain calcium, phosphorus and oxygen. Large ossicles retrieved from perch given multiple doses of tetracycline revealed discrete fluorescent bands, indicative of incremental growth. Fully developed ossicles are composed of two skeletal tissues, an inner region of chondroid bone and an outer region of acellular, lamellar bone.     

唐氏综合征患儿母亲MTHFR C677T基因多态性及血浆叶酸、同型半胱氨酸水平的研究

目的研究浙南地区汉族妇女叶酸及代谢产物同型半胱氨酸水平、亚甲基四氢叶酸还原酶(MTHFR)基因C677T位点多态性与唐氏综合征(Down’s Syndrome,DS)发生的关系。方法对84例已生育DS患儿的母亲(观察组)和120例生育过正常儿童的母亲(对照组)采用PCR扩增及DNA测序法检测亚甲基四氢叶酸还原酶基因MTHFR C677T单核苷酸多态性;免疫发光法检测叶酸(Folate)及循环酶法检测血浆同型半胱氨酸(Hcy)水平。结果 MTHFR 677 T基因及CT、TT基因型的频率两组无统计学意义(P>0.05)。对观察组与对照组的部分标本行血浆Folate与Hcy水平测定,观察组Folate水平显著高于对照组(t=-5.572,P<0.05);Hcy水平两组平均水平无统计学意义(t=0.152,P>0.05);Fo-late与Hcy水平呈负相关关系(r=-0.217,P<0.05)。观察组与对照组MTHFR 677CT、TT基因型与CC基因型Hcy水平比较均无统计学意义(P>0.05),观察组TT基因型Hcy水平比对照组有显著性升高(t=2.546,P<0.05)。结论本研究MTHFR C677T位点不是浙南地区汉族妇女DS的风险因素;DS母亲Folate水平高于对照组及MTHFR 677 TT基因型Hcy水平高于对照组,可能存在影响叶酸代谢的其他相关基因的多态性或营养的缺乏,有待进一步深入研究。     

Reading skills in males with 47,XXY: Risk factors and the influence of hormonal replacement therapy (HRT)

Purpose47,XXY is often associated with reduced expressive language and literacy skills. This retrospective cross-sectional study investigated risk factors (hormone replacement deficiency, pre-or postnatal diagnosis, and history of family learning disabilities [FLDs]) associated with reading skills in 152 males.MethodsWe analyzed Woodcock Reading Mastery Test scores among 7 prenatally diagnosed male hormone replacement therapy (HRT) groups using analysis of variance along with analysis of variance and 2 postnatally diagnosed male HRT groups (No-T and T) using t tests. Treated prenatally diagnosed males with FLDs were compared with an identically treated prenatal HRT group with no history of FLDs using a t test.ResultsIn prenatally diagnosed males, significant treatment differences were observed on several reading scales (eg, total reading: χ² = 17.96, P = .006), in which the highest modality HRT group (mean [M] =119.87) outperformed the untreated group (M = 99.88). In the postnatal analysis, we observed a significant effect of treatment on basic skills (P = .01). Despite equal HRT status, males with FLDs (M = 105.79) exhibited reduced total reading skills compared with those in the no FLD group (P = 0.0006).ConclusionOur findings in this pilot study reveal that the most optimal reading trajectory is associated with a prenatal diagnosis, absence of FLDs, and the highest modality HRT.