Results 1 to 10 of about 74,961 (213)
Preliminary psychometric validation of patient-reported outcomes relevant to individuals with spinal muscular atrophy and their caregivers [PDF]
Orphanet Journal of Rare DiseasesBackground There is a need to expand the current scope of assessment tools usually applied to patients with Spinal Muscular Atrophy (SMA). This study aimed to assess the psychometric properties (reliability and discriminant validity) of a set of new ...
Maria Grazia Cattinari +6 more
doaj +2 more sources
A self-reported Brazilian registry of 5q-spinal muscular atrophy: data on natural history, genetic characteristics, and multidisciplinary care [PDF]
Arquivos de Neuro-PsiquiatriaBackground Spinal muscular atrophy linked to chromosome 5q (SMA-5q) is a neurodegenerative disorder caused by mutations in the SMN1 gene.
Rodrigo Holanda Mendonça +2 more
doaj +2 more sources
Cuidados de la atrofia muscular espinal [PDF]
, 2017 La atrofia muscular espinal es una enfermedad neuromuscular hereditaria poco conocida que puede aparecer en varias etapas de la vida dependiendo del tipo.
García Antolín, Ángela
core +2 more sources
American Journal of Medical Genetics Part A, Volume 188, Issue 2, Page 692-707, February 2022., 2022 Abstract Koolen‐de Vries syndrome (KdVS) is a rare genetic disorder caused by a de novo microdeletion in chromosomal region 17q21.31 encompassing KANSL1 or by a de novo intragenic pathogenic variant of KANSL1. KdVS is typically characterized by intellectual disability (ID), variable from mild to severe, developmental psychomotor delay, especially of ...
Marianna Farnè +8 more
wiley +1 more source
Parents’ perspectives on nusinersen treatment for children with spinal muscular atrophy
Developmental Medicine &Child Neurology, Volume 63, Issue 7, Page 816-823, July 2021., 2021 Aim To gain insight into parents’ perspectives about their decision‐making process concerning nusinersen treatment for their child, including perceived needs and concerns, and to explore factors that influence this process. Method This was an exploratory qualitative interview study among parents of children with spinal muscular atrophy types 1 to 3 ...
Mette van Kruijsbergen +9 more
wiley +1 more source
Unilateral Urogenital Disontogeny in a Dog
Case Reports in Veterinary Medicine, Volume 2021, Issue 1, 2021., 2021 The purpose of this report was to describe an uncommon congenital anomaly in a dog. An 8‐year‐old, mixed‐breed, male dog, was referred because of progressive difficulties on defecation. A complete diagnostic work‐up (hematological analysis, radiology, ultrasound, and computed tomography), followed by surgery and histopathology, allowed us to diagnose ...
Adolfo Maria Tambella +8 more
wiley +1 more source
Atrofia cortical posterior [PDF]
Revista médica de Chile, 2009 Posterior cortical atrophy (PCA) is a neurodegenerative syndrome, usually due to Alzheimer's disease. The first symptoms are progressive impairment of visuo spatial (Balint's and Gertsmann's syndromes) or visuo perceptive (visual agnosia, alexia) function. Episodic memory and executive function are spared until later stages. We report two males aged 51
Delgado D, Carolina +1 more
openaire +3 more sources
Vasculite ou vasculopatia livedóide? [PDF]
Anais Brasileiros de Dermatologia, 2003 Vasculite livedóide ou atrofia branca não é uma vasculite verdadeira. Acredita-se ser um distúrbio primário na fibrinólise que estabelece uma vasculopatia oclusiva. Assim, não sendo uma vasculite, a expressão vasculopatia livedóide é preferível.
Maurício Zanini +3 more
doaj +3 more sources
Odontología Sanmarquina, 2020 La rehabilitación implanto-protética de maxilares con atrofia severa, presenta un desafío en la odontología actual. La falta de tejido óseo para la colocación de implantes estándares, conlleva tener que decidir una alternativa de tratamiento para el ...
Carlos Lazarte +4 more
doaj +1 more source