55 documents found, page 1 of 6

Posicionamento sobre Diagnóstico e Tratamento da Amiloidose Cardíaca – 2021

Miopatia mitocondrial e deficiência auditiva neurossensorial: estudo de caso

Resumo A miopatia mitocondrial é causada pela ausência e/ou insuficiência de uma enzina quaternária, L-carnitina, responsável por transportar ácidos graxos livres para a parte interna da mitocôndria. A função da mitocôndria é produzir energia, contribuindo para o bom funcionamento das células. A Lipidose Muscular é uma doença que provoca anomalias em enzimas que metabolizam gordura e por consequência causa acúm...

Acute hepatic porphyrias for the neurologist: current concepts and perspectives

ABSTRACT Background: Acute hepatic porphyrias represent an expanding group of complex inherited metabolic disorders due to inborn errors of metabolism involving heme biosynthesis. Objective: We aimed to review the main clinical and therapeutic aspects associated with acute hepatic porphyrias. Methods: The authors provided a wide non-systematic review of current concepts and recently acquired knowledge about acu...

Adult-onset non-5q proximal spinal muscular atrophy: a comprehensive review

Abstract Background: Adult-onset spinal muscular atrophy (SMA) represents an expanding group of inherited neurodegenerative disorders in clinical practice. Objective: This review aims to synthesize the main clinical, genetic, radiological, biochemical, and neurophysiological aspects related to the classical and recently described forms of proximal SMA. Methods: The authors performed a non-systematic critical re...

Computed tomography with low-dose radiation versus standard-dose radiation for ...

BACKGROUND: Computed tomography (CT) accounts for 13% of all radiological examinations in the United States and 40-70% of the radiation that patients receive. Even with the advent of magnetic resonance imaging (MRI), CT continues to be the gold standard for diagnosing bone fractures. There is uncertainty as to whether CT with a low radiation dose has a fracture detection rate similar to that of standard-dose CT...

Action of hormonal therapy in amyotrophic lateral sclerosis: a systematic review

SUMMARY Amyotrophic Lateral Sclerosis (ALS) is a fatal disease characterized by muscle weakness, atrophy, fasciculations, and decreased reflexes due to upper and lower motor neurons death. It can be present in both sexes (55-65 years), but with predominance in males. However, in female patients, ALS presents its first symptoms when they are already postmenopausal, when then the incidence ratio of the disease is...

Ultrasound versus electromyography for the detection of fasciculation in amyotr...

Abstract The objective of this study was to determine the diagnostic accuracy of ultrasound and electromyography for the detection of fasciculation in patients with amyotrophic lateral sclerosis and to compare detection rates between the two methods. By searching the Cochrane Library, MEDLINE, Excerpta Medica, and Latin-American and Caribbean Health Sciences Literature databases, we identified studies evaluatin...

Brazilian Nursing and Psychology students' visits to patients with amyotrophic ...

ABSTRACT Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease without a cure, but multidisciplinary treatment can maintain the quality of life (QOL) of persons with ALS (PALS). Despite health professionals possibly being affected by ALS in their care roles, little is known about the impact of ALS care on these professionals. Objective: To analyze the effects of interactions between PALS and Nursin...

A complex association of cardiomyopathy, mild dysmorphisms and leukoencephalopathy

INCIDENCE OF MUSCULOSKELETAL INJURIES IN SOCCER REFEREES: A THREE-YEAR STUDY

ABSTRACT Objectives To determine the incidence and intensity of pain and the areas most affected by injuries with musculoskeletal pain, and the incidence and severity of “injuries defined by time of leave” in games and training of soccer referees in a triennium. Methods An interview was conducted with 257 referees using a web application. With this tool, a monthly evaluation form was sent to the referees with q...