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1.
Gesundheitswesen ; 2024 Oct 01.
Artículo en Alemán | MEDLINE | ID: mdl-38996446

RESUMEN

BACKGROUND: When the Measles Protection Act as part of the Infection Protection Act came into force 2020, various types of facilities were obliged to report. The public health department of the city of Darmstadt and the district of Darmstadt Dieburg aimed to find out to what extent these facilities have complied with the reporting obligation and whether any conclusions could be derived from the data on the vaccination status of the respective group of people. METHOD: Reports from the facilities and the feedback from those affected (or their legal guardians) were reviewed and evaluated descriptively. They were divided into groups (1) schoolchildren, (2) children from other childcare facilities, (3) those in municipal accommodation for refugees and (4) those employed in one of these or in a medical facility (§§23, 33, 36 German Infection Protection Act). RESULTS: 1,527 children (2.5% of all pupils in Darmstadt Dieburg) with incomplete or unknown immunity to measles were reported from 138 schools. 70% of these provided documentation of sufficient immunity after receivng the letter from the public health department, so that it can be concluded that less than 1% (0.76%) of children were without measles protection. 17 children with incomplete vaccination status were reported from the other childcare facilities. 3,986 people with incomplete vaccination status were reported from the refugee accommodation facilities, of which 566 (14.2%) submitted complete proof after receiving a letter from the public health department. A total of 17 employees were reported from the facilities according to §§23, 33 and 36 Infection Protection Act. CONCLUSION: The reporting obligation was met in very different ways by different facilities. No statement could be made about the vaccination status of the various groups of people affected by the Measles Protection Act, as it could not be assumed with certainty that the facilities had reported comprehensively.

2.
Nat Genet ; 46(11): 1239-44, 2014 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-25261934

RESUMEN

Age-related degenerative and malignant diseases represent major challenges for health care systems. Elucidation of the molecular mechanisms underlying carcinogenesis and age-associated pathologies is thus of growing biomedical relevance. We identified biallelic germline mutations in SPRTN (also called C1orf124 or DVC1) in three patients from two unrelated families. All three patients are affected by a new segmental progeroid syndrome characterized by genomic instability and susceptibility toward early onset hepatocellular carcinoma. SPRTN was recently proposed to have a function in translesional DNA synthesis and the prevention of mutagenesis. Our in vivo and in vitro characterization of identified mutations has uncovered an essential role for SPRTN in the prevention of DNA replication stress during general DNA replication and in replication-related G2/M-checkpoint regulation. In addition to demonstrating the pathogenicity of identified SPRTN mutations, our findings provide a molecular explanation of how SPRTN dysfunction causes accelerated aging and susceptibility toward carcinoma.


Asunto(s)
Carcinoma Hepatocelular/genética , Proteínas de Unión al ADN/genética , Inestabilidad Genómica/genética , Neoplasias Hepáticas/genética , Progeria/genética , Edad de Inicio , Animales , Secuencia de Bases , Mapeo Cromosómico , Clonación Molecular , Cartilla de ADN/genética , Replicación del ADN/genética , Citometría de Flujo , Técnica del Anticuerpo Fluorescente , Genes cdc/genética , Mutación de Línea Germinal/genética , Humanos , Masculino , Datos de Secuencia Molecular , Linaje , Reacción en Cadena de la Polimerasa de Transcriptasa Inversa , Análisis de Secuencia de ADN , Pez Cebra/genética
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