Results 231 to 240 of about 29,255 (302)

Clinical and Genetic Heterogeneity of Nuclear Envelopathy Related Muscular Dystrophies in an Indian Cohort. [PDF]

J Neuromuscul Dis
Baskar D, Preethish-Kumar V, Polavarapu K, Vengalil S, Nashi S, Menon D, Ganaraja VH, Girija MS, Nandeesh BN, Arunachal G, Nalini A.   +10 more
europepmc   +1 more source

Clinical, Pathological, and Imaging Study of Pilomatrixoma: A Retrospective Study

Health Science Reports, Volume 9, Issue 2, February 2026.
ABSTRACT Background and Aims A retrospective analysis was conducted on the clinical, pathological, and imaging features of 471 cases of pilomatrixoma, aiming to enhance clinicians' understanding of pilomatrixoma. Methods A total of 471 cases of pilomatrixoma diagnosed and surgically treated in the Affiliated Hospital of Southwest Medical University ...
Qi Hao, Cong‐Gai Huang, Chao‐Ying Wu, Rong Kuang, Meng‐Ze Li   +4 more
wiley   +1 more source

Advances in the Role of Adipose Tissue in Promoting Injury Repair and Resist Infection

Immunity, Inflammation and Disease, Volume 14, Issue 2, February 2026.
ABSTRACT Background In recent years, adipose tissue (AT) transplantation has increasingly been noticed by many people in the field of tissue repair and regeneration. Accumulating evidence demonstrates that AT exerts dual functions in promoting tissue repair and conferring anti‐infective properties, with distinct biological effects attributed to its ...
Xi Duan, Run Li, Lei Fu, Jiali Yang, Zhean Zhan   +4 more
wiley   +1 more source

Exploring Splice-Site Mutations in LAMA2-Related Muscular Dystrophies: A Comprehensive Analysis of Genotypic and Phenotypic Patterns. [PDF]

Cureus
Nmer S, Ameli A, Trhanint S, Chaouki S, Bouguenouch L, Ouldim K.   +5 more
europepmc   +1 more source

Clinical and Genetic Significance of Chromosomal Microarray Screening of Asymptomatic Newborns

Journal of Clinical Laboratory Analysis, Volume 40, Issue 3, February 2026.
Among 99 asymptomatic newborns with abnormal low‐resolution chromosomal microarray (LR‐CMA) screening, 70.7% harbored microduplication/microdeletions with syndromic implications. However, only a minority exhibited developmental concerns during early follow‐up, highlighting the need for cautious interpretation.
Naye Choi, Hwa Young Kim, Jung Min Ko
wiley   +1 more source

Association Between Abnormal DNA Methylation and Altered Transcriptome in Muscle Five Years After Critical Illness

Journal of Cachexia, Sarcopenia and Muscle, Volume 17, Issue 1, February 2026.
ABSTRACT Background Critically ill patients requiring intensive care unit (ICU) admission suffer from muscle weakness that persists for years. Recently, altered RNA expression was documented in muscle of former ICU patients 5 years after critical illness that suggested disrupted mitochondrial function, disturbed lipid metabolism and fibrosis, of which ...
Ceren Uzun Ayar, Fabian Güiza, Inge Derese, Greet Van den Berghe, Ilse Vanhorebeek   +4 more
wiley   +1 more source

Genetic blueprint of congenital muscular dystrophies with brain malformations in Egypt: A report of 11 families. [PDF]

Neurogenetics
Safwat S, Flannery KP, El Beheiry AA, Mokhtar MM, Abdalla E, Manzini MC.   +5 more
europepmc   +1 more source

Muscle Imaging in Inclusion Body Myositis: Refinement of MRI Criteria and Insights Into Upper Body Involvement

Journal of Cachexia, Sarcopenia and Muscle, Volume 17, Issue 1, February 2026.
ABSTRACT Background The diagnosis of inclusion body myositis (IBM) can be delayed because of its heterogeneous clinical presentation and the lack of specific biomarkers. Muscle imaging has gained increasing relevance over the past decade and is now included among the supportive criteria in the international diagnostic guidelines.
Eleonora Torchia, Matteo Lucchini, José Verdu‐Diaz, Sara Bortolani, Beatrice Ravera, Vincenzo Carlomagno, Alessandra Cicia, Daniela Bernardo, Mauro Monforte, Robert Rehmann, Rudolf Andre Kley, Mario Sabatelli, Jordi Díaz‐Manera, Enzo Ricci, Massimiliano Mirabella, Giorgio Tasca   +15 more
wiley   +1 more source

Empowerment of genetic information by women at-risk of being carriers of Duchenne and Becker muscular dystrophies. [PDF]

J Community Genet
Hoefel AML, Weschenfelder CA, Rosa BF, Donis KC, Saute JAM.   +4 more
europepmc   +1 more source