Multiple sulphatase deficiency presenting at birth

A new case of multiple sulphatase deficiency with onset at birth is described. The patient had many dysmorphic features and hydrocephalus, similar to one other case with early onset described in the literature. The new patient differed from the other case in having chondrocalcificans congenita, heart abnormalities and an abnormal fold of tissue present between the laryngeal inlet and the oesophagus. Excessive mucopolysacchariduria was present and there was profound deficiency of all sulphatases examined in plasma, leucocytes and cultured skin fibroblasts.     

Restricted genetic defects underlie human complement C6 deficiency

Complement C6 homozygous deficiency (C6D) has been rarely observed in Caucasians but was reported at higher prevalence among African-Americans. We report on the molecular basis of C6D in seven unrelated black individuals of North or Central Africa descent who live in France. These patients have presented Neisseria meningitidis infection (four cases), focal and segmental glomerulosclerosis with hyalinosis (one case), systemic lupus erythematosus (one case) or Still's disease (one case). All patients exhibited undetectable antigenic C6 by using a sensitive ELISA assay. An additional four cases of complete C6 deficiency with no associated disease have been characterized after family studies. Exons 6, 7 and 12 have been described recently as the location of molecular defects on the C6 gene in randomly chosen black Americans. Genomic DNA from the seven patients were subjected to direct polymerase chain reaction amplification of these three exons. Nucleotide sequencing analysis of the amplified DNA fragments revealed a homozygous single-base deletion (1936delG) in exon 12 in three cases and four compound heterozygous deletions for a single base in exon 7 (1195delC) or in exon 6 (878delA) associated with the same deletion in exon 12 (1936delG). Our observations further establish the restricted pattern of genetic defects associated with homozygous C6 complement deficiency in individuals of African descent.     

Allelic association with SNPs: metrics, populations, and the linkage disequilibrium map

Comparison of different metrics, using three large samples of haplotypes from different populations, demonstrates that rho is the most efficient measure of association between pairs of single nucleotide polymorphisms (SNPs). Pairwise data can be modeled, using composite likelihood, to describe the decline in linkage disequilibrium with distance (the Malecot model). The evidence from more isolated populations (Finland, Sardinia) suggests that linkage disequilibrium extends to 427-893 kb but, even in samples representative of large heterogeneous populations, such as CEPH, the extent is 385 kb or greater. This suggests that isolated populations are not essential for linkage disequilibrium mapping of common diseases with SNPs. The in parameter of the Malecot model (recombination and time), evaluated at each SNP, indicates regions of the genome with extensive and less extensive disequilibrium (low and high values of in respectively). When plotted against the physical map, the regions with extensive and less extensive linkage disequilibrium may correspond to recombination cold and hot spots. This is discussed in relation to the Xq25 cytogenetic band and the HFE gene region.     

Neuropathology of the Central Nervous System in Acquired Immune Deficiency Syndrome (AIDS) in Japan

The neuropathologiesl features of the central nervous system in IS autopsy cases of Japanese male with AIDS were reported. Nine patients had various histological changes including a variety of opportunistic infections in six patients (40%), primary malignant lymphoma of the brain in two (13%), AIDS encephalopathy in four (27%) and vacuolar myelopathy in one (7%). Usually, these pathological changes were present concomitantly. AIDS encephalopathy was characterized by infiltration of mono and multinucleated cells and myelin pallor with astrogliosis located predominantly in the cerebral white matter and subcortical gray matter. Furthermore, unevenly distributed neuronal loss of the cerebral cortex was apparent in one case. Diffuse astrocytosis of the gray matter out of proportion to neuronal loss was also an outstanding finding in another case. The present study suggested that not only the white matter changes but also gray matter alterations might be the morphological substrates of AIDS encephalopathy.     

A patient with an interstitial deletion of the short arm of chromosome 6

The clinical history and subsequent progress of a child with an interstitial deletion in the short arm of chromosome 6 is described. This abnormality coupled with a reduced Hageman factor (Factor XII) led to an earlier publication which suggested that this gene was localized to the breakpoint region involved. A review of similar phenotypes from the literature is presented.     

大学生特殊完美主义量表的编制

目的:编制大学生特殊完美主义量表。方法:用探索性因素分析发展量表的初步理论结构,再用验证性因素分析证明理论结构的合理性和正确性,以此为基础编制了大学生特殊完美主义量表,并对正式问卷测量结果进行探索性因素分析和验证性因素分析。结果:探索性因素分析确定量表含5个因素,解释了总变异的57.54%;#系数、分半信度、重测信度分别为0.648～0.781,0.664～0.790,0.720～0.779;验证性因素分析显示拟合指数χ2/df,GFI,AGFI,NFI,NNFI,RMSEA,CFI,IFI分别为2.32,0.91,0.88,0.84,0.88,0.06,0.90,0.90。结论:该量表的信效度都达到了测量学的要求。     

Growth hormone deficiency,aortic dilation,and neurocognitive issues in Feingold syndrome 2

We report three patients with Feingold 2 syndrome with the novel features of growth hormone deficiency associated with adenohypophyseal compression, aortic dilation, phalangeal joint contractures, memory, and sleep problems in addition to the typical features of microcephaly, brachymesophalangy, toe syndactyly, short stature, and cardiac anomalies. Microdeletions of chromosome 13q that include the MIR17HG gene were found in all three. One of the patients was treated successfully with growth hormone. In addition to expanding the phenotype of Feingold 2 syndrome, we suggest management of patients with Feingold 2 syndrome include echocardiography at the time of diagnosis in all patients and consideration of evaluation for growth hormone deficiency in patients with short stature.     

甘露聚糖结合凝集素缺损与自身免疫性疾病

甘露聚糖结合凝集素(MBL)系胶原凝集素家族成员,是天然免疫系统中的重要分子。血清MBL浓度受其结构基因第一外显子几个点突变的影响和启动子区多态性的调控。MBL基因突变使其血清浓度降低,除导致调理吞噬缺损外,还与自身免疫性疾病如系统性红斑狼疮、类风湿性关节炎、干燥综合征、皮肌炎、克隆病、动脉炎等有关。     

Prävalenz des Plasmafaktormangels in der Wiener Bevölkerung

Summary A screening investigation for the presence of risk factors for the development of atherosclerosis demonstrates a plasma factor deficiency in 0,8% in the Viennese population. These findings are in agreement with the data of a newborn screening performed earlier. All the persons were clinically healthy. In 4 of them at least 1 family member suffered from the same defect. The pathogenetic relevance of the plasma factor defect for thrombophilia at young age is discussed.

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Abkürzungsverzeichnis VIP Viennese Initiative for Prostaglandin - PGI2 Prostazyklin - PG Prostaglandin - PF Plasmafaktor - PRP pättchenreiches Plasma - HUS hämolytischurämisches Syndrom - PF4 Plättchenfaktor 4 - TG Thromboglobulin - TXB2 Thromboxan B2 Diese Untersuchung im Rahmen des VIP(VienneseInitiative forProstaglandin)-Screenings wurde vom Medizinisch-Wissenschaftlichen Fonds des Bürgermeisters der Bundeshauptstadt Wien unterstützt     

胸腺因子对小鼠腹腔巨噬细胞影响的电镜观察

小白鼠15只,其中10只作实验组(用胸腺因子激活其腹腔巨噬细胞),5只(以等量生理盐水作对照)。通过扫描与透射电镜观察注射腹腔巨噬细胞的微细结构变化。结果:实验组的巨噬细胞其形态、突起、胞质内溶酶体、空泡、吞噬体、线粒体和游离核蛋白体、吞噬鸡红细胞数等均强于对照组。这些变化与活比巨噬细胞旺盛的功能状态有密切关系,本课题可进一步了解胸腺因子(一种免疫促进剂)。对巨噬细胞的激活与免疫的加强作用,并提供巨噬细胞一些形态学的依据。