Results 1 to 10 of about 74,389 (192)
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. Las más habituales son las que se diagnostican desde los pocos meses de vida porque la familia, el pediatra o la enfermera no perciben una evolución normal del niño. Es una enfermedad que actualmente
García Antolín, Ángela
openaire +3 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
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 +2 more
doaj +1 more source
Arquivo Brasileiro de Medicina Veterinária e Zootecnia, 2007 Descrevem-se o diagnóstico e o tratamento de um caso de gastrite atrófica crônica, em uma cadela sem raça definida, de dois anos de idade. A paciente apresentava como principal sintomatologia vômito crônico.
P.C. Basso +4 more
doaj +1 more source