Results 131 to 140 of about 1,449,284 (281)

BCS1L‐Associated Disease: 5′‐UTR Variant Shifts the Phenotype Towards Axonal Neuropathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives To investigate the consequences of a pathogenic missense variant (c.838C>T; p.L280F) and a 5′‐UTR regulatory variant (c.‐122G>T) in BCS1L on disease pathogenesis and to understand how regulatory variants influence disease severity and clinical presentation.
Rotem Orbach, Nunziata Maio, Russell J. Butterfield, A. Reghan Foley, Sarah Silverstein, Yan Li, Katherine Chao, Tanya J. Lehky, Abigail Potticary, Tracey A. Rouault, Sandra Donkervoort, Carsten G. Bönnemann   +11 more
wiley   +1 more source

Confiabilidade da declaração da causa básica de óbitos neonatais: implicações para o estudo da mortalidade prevenível

Revista de Saúde Pública
Analisam-se as principais causas de morte neonatal, a confiabilidade da causa básica constante nas declarações de óbito e o impacto dos problemas de confiabilidade na análise de morte prevenível.
Márcia L. Carvalho, Lynn D. Silver
doaj  

Fixel‐Based Analysis of Diffusion Imaging as a Quantitative Marker of Disease State in Spinocerebellar Ataxia

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Spinocerebellar ataxias (SCAs) are a group of genetically heterogeneous neurodegenerative diseases causing progressive deterioration and reduced quality of life. Therapeutic advances have been limited by a lack of sensitive anatomic, functional, or diffusion imaging‐based biomarkers.
David J. Arpin, S. H. Subramony, the READISCA Consortium, David E. Vaillancourt, Tetsuo Ashizawa, Alexandra Durr, Thomas Mareci, Thomas Klockgether, Jennifer Faber, Henry L. Paulson, Gülin Öz, Matthew R. Burns   +11 more
wiley   +1 more source

Mortalidade em idosos por diabetes mellitus como causa básica e associada

Revista de Saúde Pública
OBJETIVO:Analisar a mortalidade por diabetes mellitus em idosos e a subenumeração do diabetes como causa do óbito de acordo com estatísticas baseadas unicamente em causa básica de óbito.
Cláudia Medina Coeli, Luis Guilherme Francisco Duarte Ferreira, Mônica de Miranda Drbal, Renato Peixoto Veras, Kenneth Rochel de Camargo Jr., Ângela Maria Cascão   +5 more
doaj  

Problems of ICD-10 coding in health information systems using the example of coronary artery disease

Российский кардиологический журнал
Aim. To assess the possibilities and problems of using health information systems (HIS) to record disease cases and causes of death using ICD-10 codes using coronary artery disease (CAD) forms as an example.Material and methods.
I. V. Samorodskaya, E. P. Kakorina, I. V. Klyuchnikov   +2 more
doaj   +1 more source

Long‐Term Temporal Profile of Motor Recovery After Intracerebral Hemorrhage

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Limited data is available to describe the temporal profile of long‐term recovery over 1 year after the stroke in patients with spontaneous intracerebral hemorrhage (ICH). Methods A registered multicentral cohort was conducted to consecutively include non‐herniated supratentorial ICH patients from November 2013 to January 2023 ...
Yan Zheng, Fu‐Xin Lin, Ling‐Yun Zhuo, Jian‐Cai Chen, Xin Ge, Xiang‐Lin Chen, Xue‐Jiao Wang, Zhi‐Gang Yao, You‐Liang Tong, Bo Xie, Bai‐Hai Guo, Zhao‐Sheng Sun, Zhi‐Hua Tian, Ping Qiu, Xin‐Ru Lin, Qiu He, Shu‐Na Huang, Ke Ma, Fang‐Yu Wang, Huang‐Cheng Shang‐Guan, Wen‐Hua Fang, Deng‐Liang Wang, Ying Fu, Yuan‐Xiang Lin, De‐Zhi Kang   +24 more
wiley   +1 more source

[Reliability of information on the underlying cause of death from external causes in people under 18 years of age in the Municipality of Duque de Caxias, Rio de Janeiro, Brazil]. [PDF]

, 2001
Eneida Márcia de Souza Simões, Michael Eduardo Reichenheim   +1 more
openalex   +1 more source

Causas básicas e associadas de morte por Aids, Estado de São Paulo, Brasil, 1998

Revista de Saúde Pública
OBJETIVOS: Descrever o padrão da mortalidade devida a Aids segundo causas básica e associadas de morte no Estado de São Paulo, em 1998. MÉTODOS: Os dados sobre a mortalidade e a população residente no Estado de São Paulo, SP, para 1998, foram obtidos na ...
Augusto Hasiak Santo, Celso Escobar Pinheiro, Margarete Silva Jordani   +2 more
doaj  

A gyomorrák kezelésének aktualitásai [PDF]

, 2014
Gastric cancer is the 9th most common malignancy in Hungary, being the 4th most frequent cause of death among all cancers. The traditional treatment approaches did not turn out to be effective against advanced gastric cancer.
Dank Magdolna
core  

Discovery and Treatment of Action Potential‐Independent Myotonia in Hyperkalemic Periodic Paralysis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Hyperkalemic periodic paralysis (hyperKPP) is characterized by attacks of transient weakness. A subset of hyperKPP patients suffers from transient involuntary contraction of muscle (myotonia). The goal of this study was to determine mechanisms causing myotonia in hyperKPP.
Chris Dupont, Adam Deardorff, Murad Nawaz, Andrew A. Voss, Mark M. Rich   +4 more
wiley   +1 more source