Results 201 to 210 of about 3,995,622 (314)

Chronic Pulmonary Complications of Sickle Cell Disease.

Chest, 2016
A. Mehari, E. Klings
semanticscholar   +1 more source

De Novo 2.2 Mb 19q13.42–q13.43 Microdeletion Encompassing U2AF2: Support for a Haploinsufficiency Model

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT U2 small nuclear RNA auxiliary factor 2 (U2AF2) is an essential pre‐mRNA splicing factor involved in the early stages of pre‐mRNA splicing. To date, multiple individuals have been reported with predominantly heterozygous missense variants presenting intellectual disability, speech and motor delays, seizures, hypotonia, and thin or hypoplastic ...
Amanda Toledo, Sarah Araji, Weimin Bi, Seema R. Lalani   +3 more
wiley   +1 more source

Postoperative Pulmonary Complications after Craniovertebral Junction Anomaly Surgery: A Prospective Observational Study

Journal of Neuroanaesthesiology and Critical Care
Shashank Paliwal, Kiran Jangra, Ashwini Reddy, Kirandeep Kaur, Pravin Salunke, Ashutosh Aggarwal, Hemant Bhagat, Nidhi Panda   +7 more
doaj   +1 more source

Histidine Supplementation Stabilizes Hearing and Vision and Improves Growth in HARS1‐Related Autosomal Recessive Disorder Associated With Usher‐Like Symptoms

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal recessive HARS1‐related disorder (originally described as Usher syndrome type 3B) caused by a homozygous Y454S variant in the histidyl‐tRNA synthetase gene (HARS1) is characterized by progressive sensorineural hearing and vision loss and respiratory deterioration with risk for sudden death following febrile illnesses.
Victoria Mok Siu, Rosan Kenana, Rana Chakrabarti, Sarah D. P. Wilhelm, Joseph Andrews, Susan J. Leat, Christina Parker, Michael Miller, Leslie A. Nangle, Wendy McCaul, Ashfia Chowdhury, Natalie Hutchings, Ryan A. Adams, Lauren Guy, Mandy Rhody, Verena Juncal, Marisa I. Mendes, Desiree E. C. Smith, Gajja S. Salomons, Angelica A. Moresco, Daphne L. McCulloch, D. Holmes Morton, Ilka U. Heinemann, C. Anthony Rupar   +23 more
wiley   +1 more source

Expression of concern: "Perioperative risk factors for pulmonary complications after liver transplantation". [PDF]

J Int Med Res
europepmc   +1 more source

The association between regional anesthesia and postoperative pulmonary complications following lung resection surgery: a hospital-based, retrospective cohort study. [PDF]

Ann Med
Sun JJ, Liang SX, Xu L, Zhao LC, Liu XS, Yang WS, Lu Y.   +6 more
europepmc   +1 more source

Preoperative sarcopenia is a predictor of postoperative pulmonary complications in esophageal cancer following esophagectomy: A retrospective cohort study.

Journal of Geriatric Oncology, 2016
D. Makiura, R. Ono, J. Inoue, M. Kashiwa, T. Oshikiri, Tetsuo Nakamura, Y. Kakeji, Y. Sakai, Yasushi Miura   +8 more
semanticscholar   +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

Pulmonary Complications of Rheumatoid Arthritis Presenting as Spontaneous Pneumothorax and Empyema: A Case Report. [PDF]

Cureus
Jagaram R, Nallasivan S.
europepmc   +1 more source

Prediction of Postoperative Pulmonary Complications in a Population-based Surgical Cohort

Anesthesiology, 2010
J. Canet, L. Gallart, C. Gomar, G. Paluzié, J. Vallés, Jordi Castillo, S. Sabatè, V. Mazo, Z. Briones, J. Sanchís   +9 more
semanticscholar   +1 more source