Results 61 to 70 of about 1,154 (251)
Efficacy of physiotherapy and aquatherapy in children with spinal muscular atrophy: a literature review [PDF]
La atrofia muscular espinal (AME) se caracteriza por ser una enfermedad autosómica recesiva que ocasiona que en la médula espinal se degeneren las neuronas motoras alfa; lo cual, conlleva a debilidad muscular proximal progresiva.
Sotelo Rospigliosi, Milagros Cristina
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Attitudes Toward Prenatal Interventions in the Fanconi Anemia Community
Prenatal Diagnosis, EarlyView.ABSTRACT Objective In‐utero cell and gene therapies may offer prenatal treatment options for inherited diseases. Preclinical data suggests in‐utero (IU) hematopoietic stem cell transplantation (HSCT) could prevent Fanconi anemia (FA) related bone marrow failure without genotoxic conditioning or immune suppression.
Tony Lum +4 more
wiley +1 more source
Prenatal Diagnosis, EarlyView.ABSTRACT Objective Prenatal sequencing of fetuses with abnormalities detected on imaging is expanding globally. Debate continues over whether variants of uncertain significance (VUS) should be reported prenatally, with some recent national position statements opposing this.
A. Gibbs +13 more
wiley +1 more source
Genetic aspects of SMN1-unrelated autosomal recessive spinal muscular atrophies
, 2008 Les amyotrophies spinales (SMA) se caractérisent par une dégénérescence des motoneurones des cornes antérieures de la moelle épinière ou des noyaux du tronc cérébral. Elles comprennent de nombreuses entités, très hétérogènes tant sur le plan clinique que
Maystadt, Isabelle
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Environmental Toxicology, EarlyView.ABSTRACT Long‐term exposure to low‐dose food contact materials (FCMs) has raised concerns regarding developmental toxicity. In the present study, we prioritized FCMs with potential developmental toxicity using a weight‐of‐evidence computational model, which predicted 127 chemicals to be of high concern.
Chia‐Chi Ho +7 more
wiley +1 more source
, 1994 The locus responsible for the childhood-onset proximal spinal muscular atrophies (SMA) has recently been mapped to an area of 2-3 Mb in the region q12-q13.3 of chromosome 5.
ZAPPATA, S +10 more
core +1 more source
BJOG: An International Journal of Obstetrics &Gynaecology, EarlyView.ABSTRACT Objective To examine the effects of Clinical Pilates (CP) training and aerobic exercise (AE) on menopausal symptoms, depressive symptoms, quality of life (QoL), and sleep quality in postmenopausal women. Design Parallel‐group randomised controlled trial. Setting A Healthy Life Center in Bitlis, Turkey.
Başak Can, Serkan Usgu, Günseli Usgu
wiley +1 more source
Imaging of Abdominal Complications in Children With Acute Lymphoblastic Leukaemia
Journal of Medical Imaging and Radiation Oncology, EarlyView.ABSTRACT Acute lymphoblastic leukaemia (ALL) is the most common paediatric malignancy and remains one of the most common causes of cancer‐related death in children and adolescents. Five‐year overall survival rates now exceed 90% with current multidrug chemotherapeutic regimens. This improvement, coupled with the toxicity of chemotherapy, has led to the
Luke R. Holmes +2 more
wiley +1 more source
Allergy, EarlyView.ABSTRACT In the last decades, critical advancements in research technology and knowledge on disease mechanisms steered therapeutic approaches for chronic inflammatory diseases towards unprecedented target specificity. For allergic and chronic lung diseases, biologic drugs pioneered this goal, acquiring on the way—through the clinical use of monoclonal ...
F. Roth‐Walter +20 more
wiley +1 more source
Implication of cholesterol metabolism in spinal muscular atrophies pathogenesis
, 2017 Les amyotrophies spinales infantiles (SMA) sont des maladies rares autosomiques récessives survenant dès l'enfance pour laquelle aucune thérapie n'est efficace à ce jour.
Houdebine, Léo
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