Results 1 to 10 of about 2,099 (162)

Preliminary psychometric validation of patient-reported outcomes relevant to individuals with spinal muscular atrophy and their caregivers [PDF]

Orphanet Journal of Rare Diseases
Background 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, Samuel Ignacio Pascual-Pascual, Mencía de Lemus, Julita Medina, María Dumont, Pablo Rebollo, Juan Francisco Vázquez-Costa   +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-Psiquiatria
Background Spinal muscular atrophy linked to chromosome 5q (SMA-5q) is a neurodegenerative disorder caused by mutations in the SMN1 gene.
Rodrigo Holanda Mendonça, Juliane Suellen Arndt de Godoi, Edmar Zanoteli   +2 more
doaj   +2 more sources

Koolen‐de Vries syndrome in a 63‐year‐old woman: Report of the oldest patient and a review of the adult phenotype

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, Laura Bernardini, Anna Capalbo, Giusy Cavarretta, Barbara Torres, Mariabeatrice Sanchini, Sergio Fini, Alessandra Ferlini, Stefania Bigoni   +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, Carin D Schröder, Marjolijn Ketelaar, W Ludo van der Pol, Inge Cuppen, Annette van der Geest, Fay‐Lynn Asselman, Maarten J Fischer, Johanna M A Visser‐Meily, Marijke C Kars   +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, Stefano Martin, Matteo Cerquetella, Daniele Spaziante, Angela Palumbo Piccionello, Andrea Marchegiani, Umberto Faccenda, Giacomo Rossi, Sheila C. Rahal   +8 more
wiley   +1 more source

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, Cláudio Wulkan, Danielle Bertino, Lúcia Ito   +3 more
doaj   +3 more sources

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
Carolina Delgado D, Archibaldo Donoso S
openaire   +3 more sources

Alternativa para el tratamiento de la atrofia severa de maxilar superior: casos clínicos de implantes cigomáticos

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, Carlos Farias-Scroppo, Gonzalo Oviedo, Matias Garcia-Blanco, Sebastián Ariel Puia   +4 more
doaj   +1 more source

Los xantomas gástricos están asociados con lesiones malignas y premalignas

Revista Colombiana de Gastroenterología, 2016
Los xantomas gástricos son lesiones encontradas incidentalmente en la endoscopia digestiva alta. Consisten en la acumulación de lípidos en la mucosa gástrica.
Martín Alonso Gómez Zuleta, William Otero Regino, Melisa Buitrago D   +2 more
doaj   +1 more source

Atrofia cortical posterior

Oftalmología Clínica y Experimental, 2022
Posterior cortical atrophy (PCA) is a neurologic syndrome characterized by early and progressive visual impairment with evidence of degeneration affecting the occipital, parietal and posterior temporal lobes bilaterally.In most cases represents a focal form of Alzheimer’s disease, standing out within dementia pathologies for causing a highly disabling ...
Luciana L. Iacono, Lidia Sarotto, M. Laura Braccia   +2 more
openaire   +1 more source