Results 81 to 90 of about 159,974 (289)

An International ASXL3 Natural History Study: Deep Phenotypic Analyses Including Detailed Reports of a Milder Phenotype, Novel Associations, and Clinical Recommendations

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Natural History Studies can help inform clinician and caregiver expectations, form the basis of management guidelines, and provide a comparator for therapeutic intervention. In rare conditions, where collection of prospective longitudinal data is untimely and impractical, quasi‐natural history data—from multiple individuals of different ages ...
E. Woods, N. Holmes, A. S. Denommé‐Pichon, M. Vincent, N. Belova, C. Gooch, B. Isidor, C. W. Ockeloen, E. Pavlidou, H. Stewart, V. J. M. Verhoeven, A. Ververi, A. Dixit, A. Sarkar, R. Legg, E. Reid, M. Balasubramanian   +16 more
wiley   +1 more source

Natural history of liver disease in a large international cohort of children with Alagille syndrome: Results from the GALA study

Hepatology, EarlyView., 2022
Natural history of liver disease in a large international cohort of children with Alagille syndrome: Results from the GALA study. Abstract Background and Aims Alagille syndrome (ALGS) is a multisystem disorder, characterized by cholestasis. Existing outcome data are largely derived from tertiary centers, and real‐world data are lacking.
Shannon M. Vandriel, Li‐Ting Li, Huiyu She, Jian‐She Wang, Melissa A. Gilbert, Irena Jankowska, Piotr Czubkowski, Dorota Gliwicz‐Miedzińska, Emmanuel M. Gonzales, Emmanuel Jacquemin, Jérôme Bouligand, Nancy B. Spinner, Kathleen M. Loomes, David A. Piccoli, Lorenzo D'Antiga, Emanuele Nicastro, Étienne Sokal, Tanguy Demaret, Noelle H. Ebel, Jeffrey A. Feinstein, Rima Fawaz, Silvia Nastasio, Florence Lacaille, Dominique Debray, Henrik Arnell, Björn Fischler, Susan Siew, Michael Stormon, Saul J. Karpen, Rene Romero, Kyung Mo Kim, Woo Yim Baek, Winita Hardikar, Sahana Shankar, Amin J. Roberts, Helen M. Evans, M. Kyle Jensen, Marianne Kavan, Shikha S. Sundaram, Alexander Chaidez, Palaniswamy Karthikeyan, Maria Camila Sanchez, Maria Lorena Cavalieri, Henkjan J. Verkade, Way Seah Lee, James E. Squires, Christina Hajinicolaou, Chatmanee Lertudomphonwanit, Ryan T. Fischer, Catherine Larson‐Nath, Yael Mozer‐Glassberg, Cigdem Arikan, Henry C. Lin, Jesus Quintero Bernabeu, Seema Alam, Deirdre A. Kelly, Elisa Carvalho, Cristina Targa Ferreira, Giuseppe Indolfi, Ruben E. Quiros‐Tejeira, Pinar Bulut, Pier Luigi Calvo, Zerrin Önal, Pamela L. Valentino, Dev M. Desai, John Eshun, Maria Rogalidou, Antal Dezsőfi, Sabina Wiecek, Gabriella Nebbia, Raquel Borges Pinto, Victorien M. Wolters, María Legarda Tamara, Andréanne N. Zizzo, Jennifer Garcia, Kathleen Schwarz, Marisa Beretta, Thomas Damgaard Sandahl, Carolina Jimenez‐Rivera, Nanda Kerkar, Jernej Brecelj, Quais Mujawar, Nathalie Rock, Cristina Molera Busoms, Wikrom Karnsakul, Eberhard Lurz, Ermelinda Santos‐Silva, Niviann Blondet, Luis Bujanda, Uzma Shah, Richard J. Thompson, Bettina E. Hansen, Binita M. Kamath, The Global ALagille Alliance (GALA) Study Group   +93 more
wiley   +1 more source

A Newborn Case of “c” Subgroup Mismatch Presenting with Severe Hemolysis and Anemia

Journal of Pediatric Research, 2017
Hemolysis and jaundice related to Rh incompatibility in the neonatal period has decreased substantially due to the widespread use of anti-D gammaglobulin in recent years.
Ezgi Yangın Ergon, Senem Alkan Özdemir, Rüya Çolak, Kıymet Çelik, Özgür Olukman, Şebnem Çalkavur   +5 more
doaj   +1 more source

Antenatal atazanavir: a retrospective analysis of pregnancies exposed to atazanavir. [PDF]

, 2014
INTRODUCTION: There are few data regarding the tolerability, safety, or efficacy of antenatal atazanavir. We report our clinical experience of atazanavir use in pregnancy.
Anderson, J, Bradshaw, D, Brook, G, Byrne, L, Chan, SY, de Ruiter, A, Dhairyawan, R, Hawkins, D, Hay, P, Mandalia, S, Naftalin, C, Natha, M, Noble, H, Offodile, N, Perry, M, Poulton, M, Rodgers, M, Roedling, S, Samuel, M, Sarner, L, Shah, R, Short, CE, Smith, K, Taylor, G, Zhou, J   +24 more
core   +2 more sources

Artificial Intelligence Software Changes Rare Disease Testing Strategy in Real Time: An International Case Series Using Face2Gene

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Genetic disorders commonly share features such as developmental delays, cognitive impairment, and behavioral challenges, yet many conditions also present unique dysmorphic features that distinguish them. Performing a thorough medical and family history and a detailed physical exam with attention to dysmorphic features is often the first step ...
Natasha L. Rudy, Adriana Gomes, Tinatin Tkemaladze, Omar Abdul‐Rahman, Drew Cratsenberg, Giulia Pascolini, Giovanni Di Zenzo, Daniele Castiglia, Emily Black, Camerun Washington, Lauren Chad, Cynthia Curry, Miguel Del Campo, Nicole Fleischer, Lynne M. Bird, Anna C. E. Hurst   +15 more
wiley   +1 more source

Serum bile acids as a prognostic biomarker in biliary atresia following Kasai portoenterostomy

Hepatology, EarlyView., 2022
Serum bile acid levels predict outcomes in patients with biliary atresia who achieve normalized bilirubin levels after Kasai portoenterostomy. Abstract Background and Aims In biliary atresia, serum bilirubin is commonly used to predict outcomes after Kasai portoenterostomy (KP).
Sanjiv Harpavat, Kieran Hawthorne, Kenneth D. R. Setchell, Monica Narvaez Rivas, Lisa Henn, Charlotte A. Beil, Saul J. Karpen, Vicky L. Ng, Estella M. Alonso, Jorge A. Bezerra, Stephen L. Guthery, Simon Horslen, Kathy M. Loomes, Patrick McKiernan, John C. Magee, Robert M. Merion, Jean P. Molleston, Philip Rosenthal, Richard J. Thompson, Kasper S. Wang, Ronald J. Sokol, Benjamin L. Shneider, for Childhood Liver Disease Research Network (ChiLDReN)   +22 more
wiley   +1 more source

Ursodeoxycholic acid use in lactating female patients is associated with clinically negligible concentrations of this bile acid in breast milk

Scientific Reports, 2022
In the literature on the safety of ursodeoxycholic acid (UDCA) during breastfeeding, insufficient data has been reported to date. Thus, the aim of our study was to analyze bile acid (BA) concentrations in breast milk in a cohort of patients, treated with
Patrik Šimják, Tomáš Petr, Barbora Kaslová, Tomáš Fejfar, Petr Hůlek, Antonín Pařízek, Libor Vítek   +6 more
doaj   +1 more source

Possible role of TORCH agents in congenital malformations in Gorgan, northern Islamic Republic of Iran [PDF]

, 2009
This descriptive, cross-sectional study was carried out to explore the frequency of contamination with TORCH agents in neonates with congenital malformations in a referral centre in Gorgan city, Islamic Republic of Iran.
Ghaemi, E., Golalipour, M.J., Khodabakhshi, B.   +2 more
core   +1 more source

Maternal Sirolimus Treatment Reverses Cardiac Rhabdomyoma‐Induced Hydrops Fetalis in a Twin Gestation With Tuberous Sclerosis Complex

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cardiac rhabdomyomas are often the presenting sign of tuberous sclerosis complex (TSC). Prior reports have shown that maternal sirolimus treatment can reduce rhabdomyomas. We used maternal sirolimus to reverse hydrops fetalis due to a massive cardiac rhabdomyoma in a twin gestation.
David M. Ritter, Kristin Schneider, Nkiru Ezeakudo, Darcy A. Krueger, Tomoyuki Mizuno, Timothy K. Knilans, David N. Franz   +6 more
wiley   +1 more source

Infant Mortality in Novo Hamburgo: Associated Factors and Cardiovascular Causes

Arquivos Brasileiros de Cardiologia, 2015
Background: Infant mortality has decreased in Brazil, but remains high as compared to that of other developing countries. In 2010, the Rio Grande do Sul state had the lowest infant mortality rate in Brazil.
Camila de Andrade Brum, Airton Tetelbom Stein, Lucia Campos Pellanda   +2 more
doaj   +1 more source