Download full-text PDF

Source
http://dx.doi.org/10.1093/brain/awx019DOI Listing

Publication Analysis

Top Keywords

high intra-familiar
4
intra-familiar clinical
4
clinical variability
4
variability morc2
4
morc2 mutated
4
mutated cmt2
4
cmt2 patients
4
high
1
clinical
1
variability
1

Similar Publications

Intra-familiar homicides: From 2006 to 2021 in the judicial district of Milan.

J Forensic Leg Med

January 2023

Institute of Legal Medicine, Department of Biomedical Sciences for Health, University of Milan, Milan, Italy.

Introduction: The present research aims at analyzing criminological and medico-legal characteristics of intra-familiar homicides occurred in two major Italian cities (Milano and Monza) from the beginning of 2006 to the end of 2021.

Methods: Cases were identified using the Institutional database of the Institute of Legal Medicine of Milan, where all the autopsies of victims were performed. Data about these cases were obtained from autopsies findings, preliminary investigation reports, local papers and victim relatives' interviews.

View Article and Find Full Text PDF

Hearing loss (HL) is the most common sensory impairment, and it is characterized by a high clinical/genetic heterogeneity. Here we report the identification of dual molecular diagnoses (i.e.

View Article and Find Full Text PDF

Higher congenital transmission rate of Trypanosoma cruzi associated with family history of congenital transmission.

Rev Soc Bras Med Trop

May 2020

Administración Nacional de Laboratorio e Institutos de Salud, Instituto Nacional de Parasitología "Dr. Mario Fatala Chaben", Buenos Aires, Argentina.

Introduction: Congenital transmission (CT) of Trypanosoma cruzi has led to globalization of Chagas disease and its growing relevance as a public health problem. Although the occurrence of CT has been associated with several factors, its mechanisms are still unknown. This study aimed to analyze the geographical and familiar variables of mothers and their association with CT of Chagas disease in a population living in non-endemic areas of Argentina for the last decades.

View Article and Find Full Text PDF

Extended-spectrum cephalosporin-resistant (ESC) pose a serious infection control challenge for public health. The emergence of the ESC phenotype is mostly facilitated by plasmid-mediated horizontal extended-spectrum β-lactamases (ESBLs) and AmpC gene transfer within . Current data regarding the plasmid contribution to this emergence within the Dutch human population is limited.

View Article and Find Full Text PDF

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!