HLA-A, -B, -C, -DQA1, -DQB1, -DRB1, -E, -F and -G genotyping of 130 individuals from Terceira Island,Azores, Portugal

One hundred and thirty unrelated Azorean individuals were randomly selected to study the frequencies of high-resolution HLA alleles and haplotypes in the Azorean (Terceira) population. HLA-A, -B, -Cw, -DRB1, -DQA1 and -DQB1 high-resolution genotyping was performed by polymerase chain reaction using commercial kits. HLA-E, -F and -G alleles, were genotyped by sequence-based typing. All loci were in HWE, showing no locus-level deviations. The genotype data is available in the Allele Frequencies Net Database under the population name “Azores Terceira Island” and the identifier (AFND112579).     

Transgenic,Knockin,Knockout,Knockdown

下面所列4个名词代表了遗传工程操作系统中的4种不同技术方法,在目前生物医学研究领域中出现频率很高.为了使读者不致混淆其概念,兹予以简要说明和解释. Transgeni(转基因,转基因的) 是一种通过转移外源性基因或DNA片段而改变生物体内遗传物质的遗传工程技术和方法.     

Knochenregeneration,Kalk, Rachitis,Tetanie

Zusammenfassung Kalkablagerung und Wachstum des Knochens bei der Frakturheilung lassen sich durch künstlich herbeigeführten periodischen Wechsel der Blutreaktion fördern, durch Übersäuerung (außer durch solche mit Phosphorsäure) hemmen. Daher dürften die vonH. Straub für den gesunden Organismus nachgewiesenen rhythmischen Schwankungen der Blutreaktion für den normalen Kalkstoffwechsel, für das Knochenwachstum und für den Kalkspiegel im Blut ebenfalls von Bedeutung sein. Unter Berücksichtigung dieser Zusammenhänge ergeben sich neue Gesichtspunkte für die Beurteilung der Rachitis und Tetanie.     

Children,Technology, Problems,and Preferences

Increasingly, young people are using various forms of technology in the service of communicating with others, and many have noted the possibility of various dire consequences of this phenomenon, including sexting, cyberbullying, online harassment, and Internet addiction. In our own survey of over 300 adolescents, we found that texting and face‐to‐face communication were considered the most “convenient” forms of communication, while face‐to‐face communication and phone conversations were perceived as most likely to lead to “feeling understood” and “feeling intimate.” Face‐to‐face communication and texting were perceived as most likely to result in feeling regret for sharing too much information. By choosing to communicate through technology, many young people, including our patients, can continue to be social and, at the same time, keep a somewhat safer emotional distance.     

Frataxin, iron-sulfur clusters, heme, ROS, and aging

A deficiency in mitochondrial frataxin causes an increased generation of mitochondrial reactive oxygen species (ROS), which may contribute to the cell degenerative features of Friedreich's ataxia. In this work the authors demonstrate mitochondrial iron-sulfur cluster (ISC) defects and mitochondrial heme defects, and suggest how both may contribute to increased mitochondrial ROS in lymphoblasts from human patients. Mutant cells are deficient in the ISC-requiring mitochondrial enzymes aconitase and succinate dehydrogenase, but not in the non-ISC mitochondrial enzyme citrate synthase; also, the mitochondrial iron-sulfur scaffold protein IscU2 co-immunoprecipitates with frataxin in vivo. Presumably as a consequence of the iron-sulfur cluster defect, cytochrome c heme is deficient in mutants, as well as heme-dependent Complex IV. Mitochondrial superoxide is elevated in mutants, which may be a consequence of cytochrome c deficiency. Hydrogen peroxide, glutathione peroxidase activity, and oxidized glutathione (GSSG) are each elevated in mutants, consistent with activation of the glutathione peroxidase pathway. Mutant status blunted the effects of Complex III and IV inhibitors, but not a Complex I inhibitor, on superoxide production. This suggests that heme defects late in the electron transport chain of mutants are responsible for increased mutant superoxide. The impact of ISC and heme defects on ROS production with age are discussed.