Case report: natural transmission of an AZFc Y-chromosomal microdeletion from father to his sons

Y-chromosomal microdeletions, associated with oligozoospermia or azoospermia, are usually de novo deletions in the affected patients. We report here the rare case of an affected father who transmitted a Y-chromosomal microdeletion to at least two of his three sons naturally and who also fathered a daughter. The extent of the deletion, which was determined with new STS-primers and covers 3.5 Mb, was identical in the father and his azoospermic sons. To determine any possibly modifying influence of other genes involved in spermatogenesis, we analysed two polymorphisms of the DAZL gene, the autosomal homologue of the deleted DAZ gene. DAZL and DAZ might be functionally related to each other. However, we found identical polymorphisms in exon 2 and 3 of the DAZL gene, in both father and his sons, corresponding to the most prevalent genotype in fertile men. Thus, other genes or environmental factors must modify spermatogenesis in men with identical Y-chromosomal microdeletions.     

The effect of immobilization on myotendinous junction: an ultrastructural,histochemical and immunohistochemical study

Kannus , P., Jozsa , L., Kvist , M., Lehto , M. & Järvinen , M. 1992. The effect of immobilization on myotendinous junction: an ultrastructural, histochemical and immunohistochemical study. Acta Physiol Scand 144 , 387–394. Received 28 April 1 991 , accepted 13 October 1991. ISSN 0001–6772. Tampere Research Station of Sports Medicine, UKK-Institute, and Department of Surgery, Tampere University Central Hospital, Tampere, Finland; Department of Morphology, National Institute of Traumatology, Budapest, Hungary; and Sports Medical Research Unit, Paavo Nurmi Center, University of Turku, Turku, Finland. The effect of immobilization on the myotendinous junction of the calf muscles in the rat was studied histochemically, immunohistochemically and morphometrically with a transmission electron microscope. After 3 weeks of immobilization, the contact area between the muscle cells and tendineal collagen fibres was reduced by almost 50% in both type I (slow-twitch) and type II (fast-twitch) muscle fibres. The terminal finger-like processes of the muscle cells became shallow and cylindrical or were completely atrophied. Their basal membranes were slightly thickened. Histochemically, the most remarkable alteration in the myotendinous junction was the marked decrease in the sulphate containing glyco-saminoglycans. In the basal lamina of the muscle fibres, the glycosaminoglycan and proteoglycan content was also reduced. Immunohistochemical analyses revealed that the amount of type III collagen was markedly increased on the myotendinous interface, but the amount and distribution of type I collagen was not affected by immobilization. These findings suggest that immobilization causes degenerative changes at the myotendinous junction, which, in turn, most likely decrease its tensile strength and may predispose it to rupture during activity.     

Effect of the gaba antagonist 4-ethylbicyclophosphate on global and synaptic neuronal evoked responses in hippocampal slices

Laboratory of Organic Synthesis, Reception of Physiologically Active Substances Group, Institute of Physiologically Active Substances, Academy of Sciences of the USSR, Chernogolovka, Moscow Region. Laboratory of Functional Synaptology, Brain Institute, All-Union Mental Health Research Center, Academy of Medical Sciences of the USSR, Moscow. (Presented by Academician of the Academy of Medical Sciences of the USSR O. S. Adrianov. Translated from Byulleten' Éksperimental'noi Biologii i Meditsiny, Vol. 111, No. 4, pp. 339–341, April, 1991.     

Seroepidemiological study on sexually transmitted diseases and hepatitis B in African promiscuous heterosexuals in relation to HTLV-III infection

A seroepidemiological study was performed on HTLV-III, T. pallidum, C. trachomatis and Hepatitis B virus (HBV), in Butare, Rwanda, among 33 female prostitutes, 25 male customers of prostitutes, and 60 male and female controls. As compared with female controls the prostitutes had a higher prevalence of antibodies to HTLV-III (29/33 versus 4/33, p<0.001), T. pallidunz (TPHA: 27/33 versus 6/33, p<0.001; RPR: 19/33 versus 233, p<0.001; FTA-Abs: 27/33 versus 5/33, p<0:001) and C. trachomatis (IgG IF: 31/33 versus 13/33, p<0.001). HBV serological markers were more often detected in the prostitutes than in the female controls (31/33 versus 18/33, p<0.001) although HBs antigen carriage rate was similar in both groups. As compared with male controls, the male customers of prostitutes had more frequently detectable antibodies to HTLV-III (7/25 versus 2/27, p = 0.05), and a positive RPR (10/25 versus 1/27, p<0.01). Among the 118 individuals studied, odds ratios and trend analysis disclosed a significant association between HTLV-III seropositivity and a positive TPHA, RPR, FTA-Abs, Chlamvdia IgG IF test and serological markers to HBV. No association was found between HTLV-III seropositivity and IIBs Ag carriage. This study suggests that HTLV-III has to be considered as an infectious agent transmitted among promiscuous Central African heterosexuals by sexual contact and/or parenteral contact with unsterile needles used for STD treatments.     

长沙地区无偿献血人群隐匿性乙型肝炎病毒感染情况分析

目的 了解长沙地区无偿献血人群隐匿性乙型肝炎病毒感染(occult hepatitis B virus infection,OBI)流行情况,探讨HBV基因型分布特征和S区氨基酸突变的情况。方法 对长沙地区检测结果为HBsAg-/HBV DNA+的无偿献血血液样本进行HBV血清标志物检测,对其中的OBI样本进行HBV病毒载量检测和S区基因扩增,分析血清学标志物抗HBs与病毒载量检出与否的关系,并对扩增产物进行HBV基因分型和突变位点分析。结果 2019年1月—2020年1月长沙地区173 893份无偿献血标本共确认58例OBI样本,OBI流行率为0.033%;共发现7种血清学模式,抗HBc单独阳性最多,占38.98%,所有样本中抗HBc阳性率为89.83%;16例样本能检测出病毒载量,其中14例样本浓度小于100 IU/ml;抗HBs阳性组和阴性组间的病毒载量检出率无统计学差异;75.0%(12/16)样本扩增出S区序列,基因型均为B型,均发生突变,其中11例的HBsAg抗原决定簇及周边主要亲水区域(major hydrophilic region, MHR)发生氨基酸突变。结论 长沙地区无偿献血者中的OBI感染率在全国属于偏低水平;HBV基因型主要是B型,MHR区的氨基酸突变可能是造成OBI的原因,突变有本地特点。     

探针ASPCR检测肺炎支原体 微量耐药突变A2063G方法的建立

[摘要]　目的　 建立能够特异性检测微量肺炎支原体（Mycoplasma pneumoniae, MP）A2063G耐药突变基因的特异性扩增等位基因的探针法实时定量PCR（probe-based allele-specific real-time PCR, 探针ASPCR）方法。方法?建立特异性检测A2063G耐药突变位点的探针ASPCR方法,并验证其灵敏度、特异度及准确度等性能。结果?特异性扩增2063G和非特异性扩增2063A/G的引物/探针组合分别扩增105拷贝野生基因型（2063A）模板的Ct值的差(△Ct)高达10.93,能够特异性检测A2063G突变。探针ASPCR方法检测2063G基因型占总MP的比例的准确度可低至1％;检测MP的灵敏度低至10拷贝,检测A2063G耐药突变比例的灵敏度低至0.01％。探针ASPCR方法与前期建立的染料ASPCR方法检测临床样本的MP感染结果一致,MP阳性检出率均为94.83%（55/58）,高于传统巣式PCR联合测序方法的检测结果（75.86%,44/58）;探针ASPCR和染料ASPCR 2种方法检测MP耐药率分别为63.64%（35/55）、70.91%（39/55）,高于传统巣式PCR联合测序方法检测结果59.09%（26/44）。结论?新建探针ASPCR方法是一种具有高特异度、准确度和灵敏度的快速检测MP微量A2063G耐药突变的方法;与染料ASPCR方法相比,探针ASPCR方法检测耐药MP的灵敏度略低,但其临床样本检测复查率也低于染料ASPCR方法,且其结果判读简单,更适合在临床中应用推广,能够为临床制定MP及耐药MP感染的治疗方案提供理论依据。     

Precision Tracing of Household Dengue Spread Using Inter- and Intra-Host Viral Variation Data,Kamphaeng Phet,Thailand

Dengue control approaches are best informed by granular spatial epidemiology of these viruses, yet reconstruction of inter- and intra-household transmissions is limited when analyzing case count, serologic, or genomic consensus sequence data. To determine viral spread on a finer spatial scale, we extended phylogenomic discrete trait analyses to reconstructions of house-to-house transmissions within a prospective cluster study in Kamphaeng Phet, Thailand. For additional resolution and transmission confirmation, we mapped dengue intra-host single nucleotide variants on the taxa of these time-scaled phylogenies. This approach confirmed 19 household transmissions and revealed that dengue disperses an average of 70 m per day between households in these communities. We describe an evolutionary biology framework for the resolution of dengue transmissions that cannot be differentiated based on epidemiologic and consensus genome data alone. This framework can be used as a public health tool to inform control approaches and enable precise tracing of dengue transmissions.     

SARS-CoV-2 Aerosol Exhaled by Experimentally Infected Cynomolgus Monkeys

We analyzed size of severe acute respiratory coronavirus 2 (SARS-CoV-2) aerosol particles shed by experimentally infected cynomolgus monkeys. Most exhaled particles were small, and virus was mainly released early during infection. By postinfection day 6, no virus was detected in breath, but air in the isolator contained large quantities of aerosolized virus.     

Highly Pathogenic Avian Influenza A(H5N8) Virus Spread by Short- and Long-Range Transmission,France, 2016–17

We detected 3 genotypes of highly pathogenic avian influenza A(H5N8) virus in France during winter 2016–17. Genotype A viruses caused dramatic economic losses in the domestic duck farm industry in southwestern France. Our phylogenetic analysis suggests that genotype A viruses formed 5 distinct geographic clusters in southwestern France. In some clusters, local secondary transmission might have been started by a single introduction. The intensity of the viral spread seems to correspond to the density of duck holdings in each production area. To avoid the introduction of disease into an unaffected area, it is crucial that authorities limit the movements of potentially infected birds.