电磁场的应用与研究进展

随着生物医学工程学发展,物理疗法已经成为当前疾病治疗一个重要手段,因此电磁场治疗及生物电磁的研究成为当前热点。特别是在骨病等相关领域的研究,研究发现电磁场能有效的治疗和预防骨质疏松症。因此本文就电磁场治疗以及机理研究方面进行综述。     

非综合征型遗传性耳聋基因的研究进展及相关网络资源

耳聋是一种最常见的人类感觉系统缺陷,70%的遗传性耳聋属于非综合征型听力缺损。据估计非综合征型遗传性耳聋基因总数在100个以上,迄今已经有大约80个基因座被绘制于人类染色体上,至少23个基因得鉴定。本文系统地介绍了已鉴定的23个非综合征型耳聋基因,并列举了与遗传性耳聋相关的部分网络资源以供参考。 Abstract:Deafness is the most prevalent sensory system impairment of human,and 70% of genetic deafness belongs to nonsyndromic hearing impairment.The total number of genes involved in nonsyndromic hereditary deafness has been estimated to above 100.So far,approximate 80 loci have been mapped to human chromosome,and 23 genes have been identified.In this article,these 23 genes were summarized systematically and some databases about hereditary deafness were provided for reference.     

Biological Databases for Hematology Research

With the advances of genome-wide sequencing technologies and bioinformatics approaches, a large number of datasets of normal and malignant erythropoiesis have been gener-ated and made public to researchers around the world. Collection and integration of these datasets greatly facilitate basic research and clinical diagnosis and treatment of blood disorders. Here we provide a brief introduction of the most popular omics data resources of normal and malignant hematopoiesis, including some integrated web tools, to help users get better equipped to perform common analyses. We hope this review will promote the awareness and facilitate the usage of public database resources in the hematology research.     

Biological Databases for Human Research

The completion of the Human Genome Project lays a foundation for systematically studying the human genome from evolutionary history to precision medicine against diseases.With the explosive growth of biological data, there is an increasing number of biological databases that have been developed in aid of human-related research. Here we present a collection of humanrelated biological databases and provide a mini-review by classifying them into different categories according to their data types. As human-related databases continue to grow not only in count but also in volume, challenges are ahead in big data storage, processing, exchange and curation.     

Hereditary angioedema

Summary 3 families with hereditary angioedema in 9 members are described. The serum concentrations of complement factors C3, C4, and C-inhibitor (CINH) were determined in all available family members. C inhibiting activity was characteristically low or absent in sera from patients. CINH and C4 concentrations were also low, whereas C3 was present in normal concentrations in patients and in unaffected family members. In all 3 families fatal attacks of laryngeal edema had occured. 4 individuals, 2 children and 2 adults, had low concentrations of CINH and C4 but had never experienced symptoms of angioedema.

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Zusammenfassung 3 Familien mit hereditärem Angioödem bei insgesamt 9 Mitgliedern werden beschrieben. Die Serumkonzentrationen der Komplementfaktoren C3, C4 und des C-Inhibitors (CINH) wurden bei allen erreichbaren Familienmitgliedern bestimmt. Die C-Hemmaktivität und die Konzentrationen von CINH und C4 waren in den Patientenseren niedrig. Der C3-Serumspiegel war jedoch bei Patienten und gesunden Familienmitgliedern normal. In allen 3 Familien sind tödlich verlaufende Anfälle von Larynxödem vorgekommen. 4 Familienmitglieder, 2 Kinder und 2 Erwachsene, waren trotz niedriger Serumkonzentrationen von C4 und CINH asymptomatisch.

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Supported in part by Deutsche Forschungsgemeinschaft.     

Hereditary hemochromatosis

The advent of the genetics era has profoundly changed the way we look at iron related diseases, particularly hemochromatosis. New discoveries have challenged historical concepts about the disease, such as its monogenic nature, intestinal origin or complete phenotypic penetrance. This review presents a new concept of hemochromatosis which stems from the idea that, beyond their genetic diversities, all known hemochromatoses have in common the same metabolic abnormality: the genetically determined failure to prevent unneeded iron from entering the circulatory pool. Inappropriate levels of hepcidin, the iron hormone, appear now as the central pathogenic event in all forms of hemochromatosis: depending on the protein involved, and its effect on hepatic production of hepcidin, the phenotype varies, ranging from massive early-onset iron loading with severe organ disease (e.g., associated with homozygous mutations of hemojuvelin or hepcidin itself) to the milder late-onset phenotype characterizing the classic and highly prevalent HFE-related form or the rare transferrin receptor 2-related form. In vitro and in vivo studies will be needed to dissect the consequences of each hereditary hemochromatosis allele and increase our understanding of the precise contribution of each gene to the hereditary hemochromatosis phenotype.