Results 71 to 80 of about 941,077 (306)

Rare variants in NR2F2 cause congenital heart defects in humans [PDF]

, 2014
Congenital heart defects (CHDs) are the most common birth defect worldwide and are a leading cause of neonatal mortality. Nonsyndromic atrioventricular septal defects (AVSDs) are an important subtype of CHDs for which the genetic architecture is poorly ...
O'Kelly, Ita M., D’Alessandro, Lisa C.A., Mercer, Catherine L., Arndt, AK, Manickaraj, AK, Devriendt, K, Cosgrove, C., Bu'lock, Frances A, Mulder, B., Mital, Seema, Toka, Okan, Setchfield, Kerry, Lucassen, Anneke M., Mercer, C.L., Devriendt, Koenraad, Bentham, J., Arndt, Anne-Karin, Gewillig, M., O'Kelly, I.M., Siebert, Reiner, Breckpot, Jeroen, Hoff, K, Brook, J David, Fitzpatrick, David F, Mercer, CL, Hurles, Matthew E, Mercer, Catherine L, Schubert, Stephan, Salmon, Anthony P, Thienpont, Bernard, Manickaraj, A.K., Thornborough, C., Thienpont, B., FitzPatrick, David R., Hitz, Marc-Phillip, Lindsay, S, UK10K Consortium, Arndt, A.K., Gerety, Sebastian S, Bu'lock, FA, Setchfield, K, Mital, S., Siebert, R, Mulder, B, FitzPatrick, David F., O'Kelly, IM, Bu’Lock, Frances A., Watkins, H, Bentham, Jamie, Bhattacharya, Shoumo, Breckpot, J, Lucassen, AM, Swaminathan, G. Jawahar, Kramer, Hans-Heiner, Toka, O., Gewillig, M, Kramer, HH, Schubert, S., Salmon, AP, Al Turki, Saeed, Schubert, S, D'Alessandro, Lisa C. A., Brook, JD, Wilson, David I, Bhattacharya, S., Wilson, DI, Gerety, Sebastian S., Al Turki, S, Lindsay, Sarah, Devriendt, Koen, Breckpot, J., Hitz, MP, Watkins, H., Klaassen, Sabine, Salmon, Anthony P., Granados-Riveron, Javier, Harnack, C, Swaminathan, G Jawahar, Wilson, David I., Watkins, Hugh, Toka, O, Kramer, H.H., Abdul-Khaliq, H., O'Kelly, Ita M, Harnack, C., Wilson, D.I., Bu'lock, Frances A., Lucassen, A.M., Cosgrove, Catherine, Lucassen, Anneke M, Klaassen, S, Granados-Riveron, J, Low, J, Thornborough, Chris, D'Alessandro, LC, D'Alessandro, L.C.A., Low, J., Abdul-Khaliq, Hashim, Swaminathan, GJ, Gerety, S.S., Gewillig, Marc, Harnack, Christine, ?, ?, Al Turki, S., Lindsay, S., Hoff, K., Hurles, ME, D'Alessandro, Lisa C.A., Abdul-Khaliq, H, Mital, S, Klaassen, S., O’Kelly, Ita M., Granados-Riveron, J., Hurles, Matthew E., Salmon, A.P., Siebert, R., Fitzpatrick, D.F., Brook, J. David, Hitz, M.P., Fitzpatrick, DF, Thienpont, B, Mulder, Barbara, Swaminathan, G.J., Bu'Lock, F.A., Setchfield, K., Hurles, M.E., Gerety, SS, Cosgrove, C, Manickaraj, Ashok K, Devriendt, K., D'Alessandro, Lisa C A, Bhattacharya, S, Bentham, J, Manickaraj, Ashok K., Brook, J.D., Thornborough, C, Louw, Jacoba, Hoff, Kirstin, Low, Jacoba   +138 more
core   +1 more source

Neurological, Neurodevelopmental and Treatment Outcomes in Patients With Pyruvate Dehydrogenase Complex Deficiency

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective The aim of this study was to characterize intellectual and motor function, neurological features including epilepsy, treatment response, and adaptive behavior in patients with pyruvate dehydrogenase complex deficiency (PDCD) in Sweden.
Antri Savvidou, Colin Reilly, Kalliopi Sofou, Sofia Ygberg, Erik A. Eklund, Karin Naess, Niklas Darin   +6 more
wiley   +1 more source

Silibinin efficacy in a rat model of pulmonary arterial hypertension using monocrotaline and chronic hypoxia

Respiratory Research, 2019
Background C-X-C chemokine receptor type 4 (CXCR4) may be involved in the development of pulmonary arterial hypertension (PAH). CXCR4 inhibitor AMD3100 was described to have a positive effect on the prevention of pulmonary arterial muscularization in PAH
Tingting Zhang, Nanako Kawaguchi, Kenji Yoshihara, Emiko Hayama, Yoshiyuki Furutani, Kayoko Kawaguchi, Takeshi Tanaka, Toshio Nakanishi   +7 more
doaj   +1 more source

Accuracy of pulse oximetry screening for detecting critical congenital heart disease in the newborns in rural hospital of Central India [PDF]

, 2013
Congenital cardiovascular malformations are the most common category of birth defects and responsible for mortality in the first twelve months of life.
Taksande, Amar M., Suwarnakar, K., Gadekar, A., Japzape, T., Lakhkar, Bhawna   +4 more
core  

Pupillometric analysis for assessment of gene therapy in Leber Congenital Amaurosis patients [PDF]

, 2012
Background: Objective techniques to assess the amelioration of vision in patients with impaired visual function are needed to standardize efficacy assessment in gene therapy trials for ocular diseases.
Melillo Paolo, Jean Bennett, Francesca Simonelli, Simonelli Francesca, BENNETT J, Testa, Francesco, Francesco Testa, Paolo Melillo, Leandro Pecchia, Rossi, Settimio, Pecchia Leandro, Testa Francesco, Bennett, Jean, M.D., Pecchia, Leandro, PECCHIA L, Melillo, Paolo, Settimio Rossi, Simonelli, Francesca, Bennett Jean, Rossi Settimio   +19 more
core   +1 more source

Developing and Evaluating a Laboratory‐Based Frailty Index for the Prediction of Long‐Term Health Outcomes in Systemic Lupus Erythematosus

Arthritis Care &Research, EarlyView.
Objective We aimed to construct and evaluate the first laboratory‐based frailty index (FI‐Lab) for predicting adverse outcomes in systemic lupus erythematosus (SLE) and to compare its predictive ability to that of an existing clinical FI. Methods We used data from a single‐center prospective cohort of adult patients with SLE whose baseline visit ...
Grace Burns, Samuel D. Searle, Alexandra Legge   +2 more
wiley   +1 more source

Swenson-like pull-through for treatment of the rare association between Hirschsprung’s disease and anorectal malformation

BMC Pediatrics
Background Anorectal malformations and Hirschsprung’s disease are congenital conditions impacting the digestive system, with a particularly uncommon co-occurrence, estimated at 2–3% of all ARM cases.
Mohamed Abdelmalak, Mohamed Mansy, Hazem Khafaga, Yasmine Ghazaly, Reem Saeed, Nada Yakout, Saber Waheeb, Mostafa Zain   +7 more
doaj   +1 more source

Assessing the Sensitivity and the Clinical Impact of the 2023 American College of Rheumatology/EULAR Classification Criteria in Obstetric Antiphospholid Syndrome: Findings From a Multicenter Italian Cohort With a Long‐Term Follow‐Up

Arthritis Care &Research, EarlyView.
Objective The aim of this study was to evaluate the sensitivity of the 2023 American College of Rheumatology (ACR)/EULAR classification criteria for antiphospholipid syndrome (APS) in a real‐world cohort of women diagnosed with primary obstetric APS (oAPS) and to assess their ability to identify patients at risk of future pregnancy complications ...
Francesca Ruffilli, Cecilia Nalli, Francesca Crisafulli, Carlo Garaffoni, Marcello Govoni, Giulia Voltarel, Alba C. Pozzi, Beatrice Maranini, Ettore Silvagni, Alessandra Bortoluzzi, Angela Tincani   +10 more
wiley   +1 more source

THE 17-HYDROXYPROGESTERONE LEVEL, ANDROSTENEDIONE LEVEL, AND SIDE EFFECTPOST HYDROCORTISONE THERAPY OF CONGENITAL ADRENAL HYPERPLASIA PATIENTS [PDF]

, 2010
Background: Congenital Adrenal Hyperplasia (CAH) is the most common 46,XX DSDs, which occurred when one of the enzymes required for cortisol and aldosterone synthesis in adrenal gland is deficit, therefore performed adrenal hormone imbalance.
Pratami, R. Rizcky Erika
core   +1 more source

Real‐World Trends in Prenatal Antirheumatic Drug Utilization in Ontario, Canada: A Cross‐Sectional Time‐Series Analysis

Arthritis Care &Research, EarlyView.
Objective This study aimed to describe real‐world trends in preconception and prenatal use of antirheumatic drugs among pregnant individuals with rheumatic diseases in Ontario, Canada. Methods We conducted a time‐series analysis using repeated cross‐sectional data to examine annual patterns of disease‐modifying antirheumatic drug (DMARD) use among ...
Shenthuraan Tharmarajah, Swaleh Hussain, Sara J. T. Guilcher, Lisa M. McCarthy, Dharini Mahendira, Howard Berger, Mina Tadrous   +6 more
wiley   +1 more source