52 documents found, page 1 of 6
Becker Muscular Dystrophy in Pediatric Population: Diagnosis, Genetic Variabili...
Ribeiro, Mário; Silva, Joana; Gonçalves, Ana; Santos, Manuela; Garrido, CristinaIntroduction: Becker muscular dystrophy (BMD) is an X-linked neuromuscular disease caused by variants in the DMD gene that leads to progressive muscle weakness, dilated cardiomyopathy, and neurodevelopmental issues. Objective: To characterize patients with BMD from a pediatric neuromuscular disease center. Methods: Retrospective and descriptive study of BMD patients diagnosed between January 1995 and May 2024. ...
Presymptomatic treatment of type 1 spinal muscular atrophy – A literature review
Vieira, Paula Manuel; Garrido, Cristina; Santos, ManuelaSpinal muscular atrophy (SMA) is the leading monogenic cause of childhood death and SMA1 is its most common form. It is caused by a pathogenic variant in the survival motor neuron (SMN) 1 gene that results in the lack of a functional SMN protein. Patients suffer from a rapid and irreversible loss of motor neurons. Symptoms include weakness, hypotonia, and delayed or absent achievement of early motor milestones,...
Violence against Women during the COVID-19 Pandemic: From Children to the Elderly
Soeiro, Cristina; Ribeiro, Rita; Almeida, Iris; Saavedra, Rosa; Caridade, Sónia; Oliveira, Ana; Santos, ManuelaWomen of all ages can be exposed to violence both within and outside of the home, especially in the context of the COVID-19 pandemic. The purpose of this study is to analyze violence against women (VAW) before and during the first year of the pandemic in Portugal. Crimes perpetrated against female victims from 17 years old and younger to 65 years old and older were analyzed by comparing requests for help in 201...
Violence against women during the COVID-19 pandemic: from children to the elderly
Soeiro, Cristina; Ribeiro, Rita; Almeida, Iris; Saavedra, Rosa; Caridade, Sónia Maria Martins; Oliveira, Ana; Santos, ManuelaWomen of all ages can be exposed to violence both within and outside of the home, especially in the context of the COVID-19 pandemic. The purpose of this study is to analyze violence against women (VAW) before and during the first year of the pandemic in Portugal. Crimes perpetrated against female victims from 17 years old and younger to 65 years old and older were analyzed by comparing requests for help in 201...
Violence against Women during the COVID-19 Pandemic: From Children to the Elderly
Soeiro, Cristina; Ribeiro, Rita; Almeida, Iris; Saavedra, Rosa; Caridade, S.; Oliveira, Ana Cristina; Santos, ManuelaWomen of all ages can be exposed to violence both within and outside of the home, especially in the context of the COVID-19 pandemic. The purpose of this study is to analyze violence against women (VAW) before and during the first year of the pandemic in Portugal. Crimes perpetrated against female victims from 17 years old and younger to 65 years old and older were analyzed by comparing requests for help in 201...
Presymptomatic treatment of type 1 spinal muscular atrophy – A literature review
Vieira, Paula Manuel; Garrido, Cristina; Santos, ManuelaSpinal muscular atrophy (SMA) is the leading monogenic cause of childhood death and SMA1 is its most common form. It is caused by a pathogenic variant in the survival motor neuron (SMN) 1 gene that results in the lack of a functional SMN protein. Patients suffer from a rapid and irreversible loss of motor neurons. Symptoms include weakness, hypotonia, and delayed or absent achievement of early motor milestones,...
Psychosocial risks factors among victim support workers during the COVID-19 pan...
Caridade, Sónia; Oliveira, Ana; Saavedra, Rosa; Ribeiro, Rita; Santos, Manuela; Almeida, Iris; Soeiro, CristinaBackground: Being a victim support worker (VSW) involves exposure to victims' suffering, pain, and traumatic events, which may trigger the risk of VSWs developing mental health problems. Psychosocial risks (PSR) and work-related stress are considered the most challenging issues in occupational safety and health, considering they impact individuals, organizations, and economies. Methods: The purpose of the prese...
The different contexts of domestic violence before and during the COVID-19 pand...
Ribeiro, Rita; Almeida, Iris; Saavedra, Rosa; Caridade, Sónia Maria Martins; Oliveira, Ana; Santos, Manuela; Soeiro, CristinaThe COVID-19 pandemic and the subsequent restrictions impacted the world in numerous ways. These restrictions resulted in victims of domestic violence spending more time with their abuser, contributing to a rise in requests for help. The contexts for domestic violence include intimate partner violence (IPV), abuse of children/adolescent and victimization of the elderly within the family. This article compares t...
Psychosocial risks factors among victim support workers during the COVID-19 pan...
Caridade, Sónia Maria Martins; Oliveira, Ana; Saavedra, Rosa; Ribeiro, Rita; Santos, Manuela; Almeida, Iris; Soeiro, CristinaBackground: Being a victim support worker (VSW) involves exposure to victims’ suffering, pain, and traumatic events, which may trigger the risk of VSWs developing mental health problems. Psychosocial risks (PSR) and workrelated stress are considered the most challenging issues in occupational safety and health, considering they impact individuals, organizations, and economies. Methods: The purpose of the presen...
The different contexts of domestic violence before and during the COVID-19 pand...
Ribeiro, Rita; Almeida, Iris; Saavedra, Rosa; Caridade, Sónia; Oliveira, Ana; Santos, Manuela; Soeiro, CristinaThe COVID-19 pandemic and the subsequent restrictions impacted the world in numerous ways. These restrictions resulted in victims of domestic violence spending more time with their abuser, contributing to a rise in requests for help. The contexts for domestic violence include intimate partner violence (IPV), abuse of children/adolescent and victimization of the elderly within the family. This article compares t...