Results 61 to 70 of about 1,670 (170)

PREGNANCY AND CHILDBIRTH IN A PATIENT WITH SPINAL MUSCULAR ATROPFY (CLINICAL CASE)

Мать и дитя в Кузбассе, 2020
Spinal muscle atrophy (SMA) is a group of diseases inherited by an autosomal recessive type and characterized by degeneration of cells of the anterior horns of the spinal cord.
Ирина Анатольевна Ушакова, Нонна Марковна Шибельгут, Игорь Анатольевич Гнусарев, Екатерина Владимировна Литовченко, Вадим Гельевич Мозес, Елена Владимировна Рудаева, Светлана Ивановна Елгина   +6 more
doaj  

A comprehensive review on adaptive plasticity and recovery mechanisms post‐acquired brain injury

Neuroprotection, EarlyView.
This figure illustrates the dynamic process of neurogenesis following brain injury, focusing on the roles of neural stem and progenitor cells at the injury site. Key mechanisms include axonal sprouting, synaptogenesis, dendritic remodeling, and brain‐derived neurotrophic factor signaling via TrkB receptors.
Ravi Kumar Rajan
wiley   +1 more source

State‐of‐the‐Art on Model‐Informed Drug Development Approaches for Pediatric Rare Diseases

CPT: Pharmacometrics &Systems Pharmacology, EarlyView.
ABSTRACT Pediatric rare diseases present unique challenges for drug development due to small patient populations, ethical constraints on clinical trial design, and limited prospectively defined natural history data. Model‐Informed Drug Development (MIDD) has emerged as a powerful paradigm to address these challenges by leveraging quantitative methods ...
Rajesh Krishna, Amitava Mitra, Matthew L. Zierhut, Lilly East, Chandra Durairaj   +4 more
wiley   +1 more source

Transforming Pediatric Rare Disease Drug Development: Enhancing Clinical Trials and Regulatory Evidence With Virtual Patients

CPT: Pharmacometrics &Systems Pharmacology, EarlyView.
ABSTRACT Drug development in pediatric rare diseases is complicated by practical and ethical constraints on clinical trial design, stemming from small, highly heterogeneous, and vulnerable patient populations. Virtual patients (VPs) created with machine‐learning (ML), mechanistically driven computational approaches, or hybrids thereof, have the ...
Fianne Sips, Marco Virgolin, Giuseppe Pasculli, Federico Reali, Alessio Paris, Annette Janus, Yann Godfrin, Daniel Röshammar, Luca Marchetti, Jane Knöchel   +9 more
wiley   +1 more source

A Care Plan For the Patient with Spinal Muscular Atrophy (SMA) — Case Report

The Journal of Neurological and Neurosurgical Nursing, 2017
Introduction. Spinal muscle atrophy (SMA) is one of the most common neurodegenerative diseases of genetic background the the child’s age. Regardless of the form, it is essential to draw up a suitable nursing care plan that will help in accepting disabilities as well as in the preservation of self-care and self-nursing nursing by the child and family ...
Monika Pietrzak, Julita Szambelan, Anna Antczak-Komoterska, Aleksandra Rychlewska, Beata Haor   +4 more
openaire   +4 more sources

Quality of life data for individuals affected by Spinal Muscular Atrophy: A baseline dataset from the Cure SMA Community Update Survey [PDF]

, 2020
Lisa Belter, Rosángel Cruz, Jill Jarecki   +2 more
openalex   +2 more sources

A self-reported Brazilian registry of 5q-spinal muscular atrophy: data on natural history, genetic characteristics, and multidisciplinary care

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   +1 more source

Mapping VEXAS‐associated and rare UBA1 variants in the United Kingdom: Insights from patient cohorts and the general population

British Journal of Haematology, EarlyView.
VEXAS syndrome is a late‐onset inflammatory disorder with rheumatological and haematological features. Epidemiological studies of VEXAS syndrome so far have been limited. Analysis of various UK cohorts estimates the incidence of VEXAS to be 1.51/100 000, or 171 new cases in the population of men over the age of 50 who are being investigated for myeloid
Ana Martinez Rodriguez, Leon Chang, Dorota Rowczenio, Alexandra Smith, Ebun Omoyinmi, James A. Poulter, Andrew McGregor, Sebastian Francis, Roochi Trikha, Adam Al‐Hakim, Kar Lok Kong, David G. Kent, Helen Lachmann, Austin Kulasekararaj, Catherine Cargo, Sinisa Savic   +15 more
wiley   +1 more source

Intrathecal administration of nusinersen for spinal muscular atrophy: report of three cases with severe spinal deformity

JA Clinical Reports, 2020
Background Spinal muscular atrophy (SMA) is a genetic disease characterized by degeneration of the spinal cord, resulting in progressive muscle atrophy.
Sayo Nakao, Shinichi Yamada, Katsuya Tsuda, Taishi Yokomizo, Teruyuki Sato, Shuichi Tanoue, Teruyuki Hiraki   +6 more
doaj   +1 more source

Cerebellar defects are a primary pathology in mouse models of spinal muscular atrophy

Brain Pathology, EarlyView.
Purkinje cell (PC) degeneration is localized to posterior lobules in the cerebellum, and rescue of survival motor neuron protein expression levels in motor neurons does not ameliorate this effect. Representative images of sagittal cerebellar sections stained with anti‐calbindin in the vermis and hemisphere at P12 for wild type, ChATCre+ rescue (Rescue),
Nicholas C. Cottam, Morgan Dowling, Lingling Kong, Michelle Harran Chan‐Cortés, Christine J. Charvet, Naika Norzeron, Cameron Grover, Melissa A. Harrington, Charlotte J. Sumner, Jianli Sun   +9 more
wiley   +1 more source