Results 41 to 50 of about 274,238 (267)

Photobiomodulation‑Engineered Extracellular Vesicles Enhance Neural Differentiation via UFL1‑Mediated UFMylation in Spinal Cord Injury

Advanced Science, EarlyView.
Photobiomodulated microglia release engineered extracellular vesicles that deliver UFL1 to the injured spinal cord. UFL1 competitively binds p53 with MDM2, inhibiting p53 ubiquitination and stabilizing p53 signaling. This dual mechanism simultaneously promotes anti‐inflammatory microglial polarization and directs neural stem cell differentiation toward
Yunxiao Fang, Zuomeng Wu, Ruocheng Guo, Cancan Wang, Yue Qin, Yixiang Dong, Aoyun Li, Ao Liu, Chongyu Jia, Tianyu Han, Peiwen Song, Lei Chen, Cailiang Shen   +12 more
wiley   +1 more source

Trends, Demographic Characteristics and Seasonal Patterns of Rectal Prolapse Surgery in Japan: A Nationwide Claims‐Based Analysis From 2014 to 2023

Annals of Gastroenterological Surgery, EarlyView.
This study analyzed nationwide trends, demographic characteristics, and seasonal patterns of rectal prolapse surgery in Japan using healthcare claims data. From 2014 to 2023, age‐adjusted overall and conventional surgeries declined significantly, whereas laparoscopic surgeries increased significantly.
Masamitsu Kido, Tomohiro Arita, Hiroki Shimizu, Jun Kiuchi, Kenji Nanishi, Katsutoshi Shoda, Hiroyuki Okimura, Atsuko Fujihara, Kengo Yoshii, Atsushi Shiozaki   +9 more
wiley   +1 more source

Severe ADEM‐Like Neuroinflammatory Disease and Cerebrovascular Fragility With Recurrent Pseudoaneurysms and Moyamoya in a Familial Germline CBL Mutation: Expanding the Clinical Phenotype

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Heterozygous germline variants in CBL disrupt its function as a negative regulator of the Ras/MAPK pathway, classically predisposing to Juvenile myelomonocytic leukemia (JMML) and moyamoya. We describe two affected siblings carrying a paternally inherited CBL variant (c.1210 T> C, p.
Michal Bar‐Hakim, Anat Abramovich, Sara Via‐Dorembus, Gali Heimer, Bruria Ben‐Zeev, Etai Adam, Assaf A. Barg, Jonathan Roth, Basheer Sheick‐Yousif, Rony Beeri Berkowiz, Michal Feldon, Haim Bassan, Moran Hausman‐Kedem   +12 more
wiley   +1 more source

Perinatal Lamb Model of Respiratory Syncytial Virus (RSV) Infection

Viruses, 2012
Respiratory syncytial virus (RSV) is the most frequent cause of bronchiolitis in infants and children worldwide. Many animal models are used to study RSV, but most studies investigate disease in adult animals which does not address the unique physiology ...
Mark R. Ackermann, Rachel J. Derscheid
doaj   +1 more source

Ocular and Systemic Findings in COL2A1 and COL11A1 Stickler Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Stickler syndrome is most commonly caused by variants in COL2A1 and COL11A1 genes. The purpose of this study was to describe genetic variants and phenotypes in COL2A1 and COL11A1 Stickler syndrome. We performed a retrospective genotype–phenotype evaluation of COL2A1 and COL11A1 Stickler syndrome subjects. Thirty‐two subjects with COL2A1 and 13
Aileen G. MacLachlan, Jessica A. Kraker, Denise J. Morgan, Lisa A. Schimmenti, M. Elizabeth Hartnett, Eileen S. Hwang   +5 more
wiley   +1 more source

Abnormal Serotonin Levels During Perinatal Development Lead to Behavioral Deficits in Adulthood

Frontiers in Behavioral Neuroscience, 2018
Serotonin (5-HT) is one of the best-studied modulatory neurotransmitters with ubiquitous presynaptic release and postsynaptic reception. 5-HT has been implicated in a wide variety of brain functions, ranging from autonomic regulation, sensory perception,
Relish Shah, Emmanuelle Courtiol, Francisco X. Castellanos, Francisco X. Castellanos, Catia M. Teixeira, Catia M. Teixeira   +5 more
doaj   +1 more source

Genotype–Phenotype Correlations of Monoallelic PFIC Variants in Pediatric Liver Disease: A Multicenter Retrospective Cohort Study

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Progressive familial intrahepatic cholestasis (PFIC) is classically caused by biallelic pathogenic variants, yet monoallelic variants of uncertain significance (VUS) in PFIC‐associated genes are increasingly identified in children with cholestasis, creating diagnostic uncertainty.
Brett J. Hoskins, Tiziano Pramparo, Chaowapong Jarasvaraparn, Michael J. Wilsey, Voytek Slowik, Lakshmi Kunam, Janis M. Stoll, Ruben E. Quiros‐Tejeira, Simon Lam, Wikrom Karnsakul   +9 more
wiley   +1 more source

Hidrops fetalis no immune: a propósito de un caso

Anales de la Facultad de Medicina, 2004
Presentamos un caso de hidrops fetalis no inmune por trisomía del par 21, diagnosticado a las 31 semanas de gestación. Mediante cordocentesis y estudio cromosómico de linfocitos se llegó al diagnóstico etiológico de síndrome Down. La paciente reingresó a
Joel Cárdenas, Erasmo Huertas, Ismenia Oré, Semiramis Carbajal   +3 more
doaj  

Bilateral Neonatal Testicular Torsion; Hidden Surgical Nightmare

Frontiers in Pediatrics, 2018
Perinatal testicular torsion is a relatively rare event that remains unidentified in many situations and managed only after an avoidable delay of time. Its current management approaches include watchful observation, delayed contralateral orchiopexy, and ...
Tariq O. Abbas, Tariq O. Abbas, Tariq O. Abbas, Mansour Ali   +3 more
doaj   +1 more source

High Diagnosis Rate for Nonimmune Hydrops Fetalis With Prenatal Clinical Genome: Expanded Results From the Hydrops‐Yielding Diagnostic Results of Prenatal Sequencing (HYDROPS) Study

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Nonimmune hydrops fetalis (NIHF) is characterized by abnormal fluid accumulation in ≥ 2 fetal compartments and may be genetic. The incremental diagnostic yield of prenatal exome sequencing (ES) for NIHF following a negative standard workup was previously explored on 22 cases.
Stephanie M. Rice, Mona M. Makhamreh, Sascha Wodoslawsky, Mariella Toro, Elizabeth Critchlow, Brandy Firman, Ruby Liu, Babi Ramesh Nallamilli, Madhuri Hegde, Seth I. Berger, Huda B. Al‐Kouatly   +10 more
wiley   +1 more source