Results 41 to 50 of about 83,265 (294)

Effectiveness and Safety of Nusinersen and Risdiplam in Spinal Muscular Atrophy: A Systematic Review

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Spinal Muscular Atrophy (SMA) is a rare genetic disorder marked by progressive muscle weakness and mobility loss. It has a profound physical, emotional and social impact on patients and caregivers, requiring comprehensive medical and supportive care.
Amin Mehrabian, Peter Auguste, Amy Grove, Anna Brown, Janette Parr, Mubarak Patel, Furqan Butt, Jeremiah Donoghue, Mehdi Yousefi, Jo Parsons   +9 more
wiley   +1 more source

MOBILITY SKILLS CONDITION IN MACEDONIA AMONG YOUTH IN HIGH SCHOOL [PDF]

Journal of Process Management and New Technologies, 2013
Within this research, the manifestation of the ontogenetic differences degree in some motor manifestations between male and female pupils is investigated, which attend a regular course in physical (Kinesiology) and health education in the secondary ...
Angel Dzhambazovski, Mitrichka Ks. Stardelova , Nevenka Panovska, Selim Alili, Kjamilj Elmazi   +4 more
doaj  

Graduation of the Learning Curve from Small to Smaller: Evolution of Tubular Retractors from 18 mm to 14 mm in Management of Lumbar Disc Herniation [PDF]

Journal of Minimally Invasive Spine Surgery and Technique, 2019
Objective While the utility of 16 mm and 18 mm diameter tubular-retractors in the management of prolapsed intervertebral-disc is well-established, there is no published literature on the use of 14 mm tube.
Arvind Gopalrao Kulkarni, Sagar Bhupendra Sharma, Tushar Satish Kunder   +2 more
doaj   +1 more source

Acetylation Regulates ACSL4 Degradation Through Chaperone‐Mediated Autophagy to Alleviate Intervertebral Disc Degeneration

Advanced Science, EarlyView.
Intervertebral disc degeneration is triggered by ACSL4 accumulation‐mediated ferroptosis of nucleus pulposus cells due to CMA dysfunction. KAT2B promotes ACSL4 degradation via CMA through acetylation. AAV‐mediated LAMP2A delivery or engineered exosomes rescue nucleus pulposus cell senescence and disc degeneration.
Zhouwei Wu, Zhichen Jiang, Chenglong Hong, Shu Yang, Shuqing Jin, Chenyu Wu, Kaijie Guo, Jiang Liu, Shaobo Xu, Chenggui Wang, Xiangyang Wang   +10 more
wiley   +1 more source

Syndrome of the Month: An Update on Smith‐Kingsmore Syndrome: Characterization of Developmental Milestones and a Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Smith‐Kingsmore syndrome (SKS) is a rare autosomal dominant condition characterized by neurodevelopmental differences, macrocephaly/megalencephaly, describable facial features, sleep–wake abnormalities, hyperphagia, and overgrowth. SKS is caused by pathogenic gain‐of‐function variants in MTOR which lead to hyperactivation of the mTOR pathway ...
Carolyn R. Raski, Carlos E. Prada
wiley   +1 more source

Analysis of Postoperative Pain at the Anterior Iliac Crest Harvest Site: A Prospective Study of the Intraoperative Local Administration of Ropivacaine [PDF]

Asian Spine Journal, 2015
Study DesignThis was a prospective randomized comparative study.PurposeThe aim of this study was to objectify donor site-related pain following anterior iliac crest graft harvesting, in patients who have undergone multilevel anterior cervical discectomy ...
Juliane Zenner, Wolfgang Hitzl, Michael Mayer, Heiko Koller   +3 more
doaj   +1 more source

Descriptive Epidemiology From the Myhre Syndrome Foundation Registry: The Value of Self‐Reported Data

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is an ultrarare genetic disease characterized by short stature, distinct craniofacial features, cardiovascular and respiratory fibrosis and stenosis, neurodevelopmental delays, autism, intellectual disability, and hearing loss. The natural history of Myhre syndrome is still not fully understood due to a small patient population ...
Mary K. Young, Armelle Pindon, Maggie R. Brand, Kate Wears, Katherine H. Young, Alyssa Mendel, Michael J. Lyons   +6 more
wiley   +1 more source

Infantile‐Onset Ascending Hereditary Spastic Paraplegia due to a Homozygous ALS2 Exons 24–25 Deletion: Expanding the Genotypic Spectrum

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT We describe a novel homozygous intragenic deletion in the ALS2 gene in an 8‐year‐old boy with Infantile‐onset Ascending Hereditary Spastic Paraplegia (IAHSP) and oculomotor apraxia, thereby contributing to the expanding genetic landscape of ALS2‐related disorders.
Vito Luigi Colona, Maria Gnazzo, Silvia Genovese, Gessica Vasco, Lorena Travaglini, Maurizio Sabbadini, Marina Macchiaiolo, Francesco Nicita, Jacopo Sartorelli, Carmelo Piscopo, Enrico Castelli, Enrico Bertini, Andrea Bartuli, Antonio Novelli, Gessica Della Bella, Davide Vecchio   +15 more
wiley   +1 more source

Polyarticular Septic Arthritis in an Immunocompetent Adult: A Case Report and Review of the Literature

Case Reports in Orthopedics, 2015
Septic arthritis is a clinical emergency requiring prompt diagnosis and treatment to avoid significant morbidity and mortality. Polyarticular septic arthritis (PASA) accounts for 15% of all infectious arthritides and rarely occurs in immunocompetent ...
Annelise Miller, Fahad Abduljabbar, Peter Jarzem   +2 more
doaj   +1 more source

Psychiatric Comorbidities and Treatment Modalities in Children With Osteogenesis Imperfecta: A Systematic Review of Mental Health

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT To evaluate the prevalence of psychiatric signs and symptoms and describe psychotherapeutic and psychopharmacological interventions among children with osteogenesis imperfecta (OI). PRISMA guidelines were followed, and the study was registered in PROSPERO (CRD42024588284). Studies (n = 1419) were identified across five databases.
Julia M. Morales, Camille F. Villar, Beatriz Varman, Gianna M. Colombo, Danqi Li, Sarah J. Sadek, Marie‐Eve Robinson, Chaya N. Murali, Kara Ayers, Jocelyn Gomez, Brendan Lee, V. Reid Sutton, Eric A. Storch, Andrew D. Wiese   +13 more
wiley   +1 more source