Spinal Muscular Atrophy (SMA) type I has classically presented extremely severe clinical features. New pharmacological treatments have led to a new phenotype of SMA. The aim of this study was to describe the current health and functional status of children with SMA. A cross-sectional study was conducted based on the STROBE guidelines. Patient questionnaires and standardized tools were used. A descriptive analysis was conducted establishing the proportions of subjects for each of the characteristics of interest. In total, 51 genetically confirmed SMA type I subjects were included. Fifty-seven percent received oral feeding, 33% received tube feeding and 10% combined both. Moreover, 21.6% had tracheostomies, and 9.8% needed more than 16 h/d ventilatory support. Regarding orthopedic status, 66.7% had scoliosis, and 68.6% had hip subluxation or dislocation. Up to 67% were able to sit independently, 23.5% walked with support and one child walked independently. Current SMA type I is a different entity from the classic phenotype but also from types II and III. In addition, no differences were found between SMA type I subgroups. These findings may enable the professionals involved in the care of these patients to improve their interventions in terms of prevention and rehabilitation measures for these children.
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http://dx.doi.org/10.3390/children10050892 | DOI Listing |
Orphanet J Rare Dis
December 2024
Centre de Référence Des Maladies Neuromusculaires AOC, CHU de Nantes, Filnemus, Euro-NMD, Hôtel Dieu, Nantes, France.
Background: Spinal muscular atrophy (SMA) patients benefit from pre-mRNA splicing modifiers targeting the SMN2 gene, which aims to increase functional SMN production. The animal toxicity affecting spermatogenesis associated with one such treatment raised questions about male SMA patients' spermatogenesis.
Methods: This descriptive, cross-sectional study was conducted from June 2022 to July 2023.
Arq Neuropsiquiatr
December 2024
Universidade de São Paulo, Faculdade de Medicina, Departamento de Neurologia, São Paulo SP, Brazil.
Background: Spinal muscular atrophy linked to chromosome 5q (SMA-5q) is a neurodegenerative disorder caused by mutations in the gene.
Objective: To describe the key demographic, clinical and genetic characteristics, as well as natural history data of patients with SMA-5q.
Methods: Up to January 2022, 706 patients with confirmed genetic diagnosis of SMA-5q, or their parents, completed a self-reported questionnaire on natural history, genetic characteristics, drug treatments, and multidisciplinary care.
Naunyn Schmiedebergs Arch Pharmacol
December 2024
Department of Human Biology to the Physiology, School of Medicine, International Medical University, 57000, Kuala Lumpur, Malaysia.
Rheumatoid arthritis (RA) can cause blood pressure (BP) elevation in estrogen-deficient, post-menopausal women; however, the underlying mechanisms are not well understood. In this study, the aortic involvement and its underlying mechanisms that contribute to the BP elevation in estrogen-deficient, RA condition were identified. Ovariectomy was performed to create a state of estrogen deficiency and RA was then induced in ovariectomized rats by using incomplete Freund's adjuvant and immune-mediated collagen type-II.
View Article and Find Full Text PDFBiochem Pharmacol
December 2024
Department of Biological Sciences (Pharmacology & Toxicology), National Institute of Pharmaceutical Education and Research (NIPER) Hyderabad, Telangana 500037, India. Electronic address:
Silent mating-type information regulation 2 homology 3 (SIRT3) is a member of the sirtuins family expressed in mitochondria performs deacetylation of metabolic enzymes and promotes longevity. 7-hydroxy-3-(4'-methoxyphenyl) coumarin (C12) is a small molecule first ever known for its direct activation of SIRT3. SIRT3 performs its function by balancing the redox system by activating manganese superoxide dismutase (MnSOD) and 8-Oxoguanine glycosylase (OGG1).
View Article and Find Full Text PDFCureus
November 2024
Department of Gastroenterology, Topiwala National Medical College & BYL Nair Charitable Hospital, Mumbai, IND.
A 12-year-old female, resident of western India, presented with a history of pruritus associated with jaundice for two months. On presentation, she had icterus with mild palpable hepatomegaly. Investigations revealed direct hyperbilirubinemia and elevated transaminases, while gamma-glutamyl transferase levels were normal.
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