105 research outputs found

    Diurnal variation of upper tropospheric humidity and its relations to convective activities over tropical Africa

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    Diurnal variations of upper tropospheric humidity (UTH) as well as middle tropospheric humidity (MTH) were examined in conjunction with the diurnal cycle of convection over tropical Africa and the adjacent tropical Atlantic Ocean using Meteosat-8 measurements. Cloud and humidity features were also tracked to document the diurnal variations of humidity and clouds in the Lagrangian framework. <br><br> A distinct diurnal variation of UTH (and MTH) is noted over regions where tropical deep convective cloud systems are commonly observed. The amplitude of the UTH diurnal variation is larger over land, while its variations over convectively inactive subtropical regions are much smaller. The diurnal variation of UTH tends to reach a maximum during nighttime over land, lagging deep convection and high cloud whose maxima occurred in the late afternoon and evening, respectively. It was revealed that these diurnal variations over the African continent are likely associated with continental-scale daytime solar heating and topography, in which topographically-induced signals develop earlier around the mid-afternoon and merge into stronger and broader continental-scale convection clusters later, forming a precipitation maximum in the late afternoon. It was also revealed that advection effect on the diurnal variation appears to be insignificant

    PHIP-associated Chung-Jansen syndrome: Report of 23 new individuals

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    In 2016 and 2018, Chung, Jansen and others described a new syndrome caused by haploinsufficiency of PHIP (pleckstrin homology domain interacting protein, OMIM *612,870) and mainly characterized by developmental delay (DD), learning difficulties/intellectual disability (ID), behavioral abnormalities, facial dysmorphism and obesity (CHUJANS, OMIM #617991). So far, PHIP alterations appear to be a rare cause of DD/ID. “Omics” technologies such as exome sequencing or array analyses have led to the identification of distinct types of alterations of PHIP, including, truncating variants, missense substitutions, splice variants and large deletions encompassing portions of the gene or the entire gene as well as adjacent genomic regions. We collected clinical and genetic data of 23 individuals with PHIP-associated Chung-Jansen syndrome (CHUJANS) from all over Europe. Follow-up investigations (e.g. Sanger sequencing, qPCR or Fluorescence-in-situ-Hybridization) and segregation analysis showed either de novo occurrence or inheritance from an also (mildly) affected parent. In accordance with previously described patients, almost all individuals reported here show developmental delay (22/23), learning disability or ID (22/23), behavioral abnormalities (20/23), weight problems (13/23) and characteristic craniofacial features (i.e. large ears/earlobes, prominent eyebrows, anteverted nares and long philtrum (23/23)). To further investigate the facial gestalt of individuals with CHUJANS, we performed facial analysis using the GestaltMatcher approach. By this, we could establish that PHIP patients are indistinguishable based on the type of PHIP alteration (e.g. missense, loss-of-function, splice site) but show a significant difference to the average face of healthy individuals as well as to individuals with Prader-Willi syndrome (PWS, OMIM #176270) or with a CUL4B-alteration (Intellectual developmental disorder, X-linked, syndromic, Cabezas type, OMIM #300354). Our findings expand the mutational and clinical spectrum of CHUJANS. We discuss the molecular and clinical features in comparison to the published individuals. The fact that some variants were inherited from a mildly affected parent further illustrates the variability of the associated phenotype and outlines the importance of a thorough clinical evaluation combined with genetic analyses for accurate diagnosis and counselling

    Teaching library - realization of a concept with many facets at the library for the medical faculty of Mannheim

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    Since 2004 the library for the medical faculty of Mannheim has been offering a course program consisting of both optional and mandatory information literacy training courses. Both types of classes are continuously being refined and additional e-learning resources developed in order to provide all main target groups at the "UniversitĂ€tsmedizin Mannheim" with customized offerings that meet their information needs and that are available flexibly in terms of time and space. This article describes the general framework, contents and development of the course program as well as the objectives of the underlying training concept.Seit 2004 gehören zum Schulungsangebot der Bibliothek der Medizinischen FakultĂ€t Mannheim neben fakultativen auch curricular verankerte Kurse zur Vermittlung von Informationskompetenz. Beide Kurstypen werden kontinuierlich weiterentwickelt und um E-Learning-Ressourcen ergĂ€nzt mit dem Ziel, maßgeschneiderte, am jeweiligen Informationsbedarf orientierte und zeitlich sowie rĂ€umlich flexibel verfĂŒgbare Angebote fĂŒr alle zentralen Zielgruppen an der UniversitĂ€tsmedizin Mannheim bereitzustellen. Der Artikel beschreibt Rahmenbedingungen, Inhalte und Weiterentwicklung des Schulungsangebotes sowie die Ziele des zugrunde liegenden Schulungskonzeptes
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