Results 41 to 50 of about 41,241 (254)

Chromosome 3q22.2‐q26.2 Interstitial Deletion in a Patient With Wisconsin Syndrome, Blepharophimosis‐Ptosis‐Epicanthus Inversus Syndrome, Dandy‐Walker Malformation, Pierre Robin Sequence, and Recurrent Infections

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Wisconsin syndrome is a very rare genetic condition characterized by coarse facies, prominent nasal tip, bushy high arched/upsweeping eyebrows, and a full/everted lower lip. Deletion of chromosome 3q24q25 region is considered critical for its manifestation.
Pankaj Prasun, Sonja Henry, Vivek Balasubramaniam   +2 more
wiley   +1 more source

Unusual Presentation of Patent Ductus Arteriosus in Elderly Patient [PDF]

Brazilian Journal of Cardiovascular Surgery, 2020
We presented a case of a 56-year-old man with giant pulmonary artery aneurysm caused by a misdiagnosed patent ductus arteriosus, severe multivalvular disease and active aortic valve endocarditis successfully treated by surgery.
Slobodan V. Micovic, Ivan M. Nesic, Miroslav D. Milicic, Petar M. Vukovic   +3 more
doaj   +1 more source

Comparative effectiveness of drugs used to constrict the patent ductus arteriosus: a secondary analysis of the PDA-TOLERATE trial (NCT01958320). [PDF]

, 2019
ObjectiveTo evaluate the effectiveness of drugs used to constrict patent ductus arteriosus (PDA) in newborns < 28 weeks.MethodsWe performed a secondary analysis of the multi-center PDA-TOLERATE trial (NCT01958320).
Aucott, Susan W, Bulbul, Ali, Carey, William A, Clyman, Ronald I, Derrick, Matthew, Dong, Lawrence, Erdeve, Omer, Farooqi, Aijaz, Hassinger, Denise C, Hayashi, Madoka, Heuchan, Anne Marie, Håkansson, Stellan, Kaempf, Joseph, Katheria, Anup, Kimball, Amy, Leone, Tina, Liebowitz, Melissa, Lindqvist, Johanna, Nelson, Kelly, Perez, Jorge, Sankar, Meera, Sauberan, Jason, Serize, Arturo, Singh, Jaideep, Wickremasinghe, Andrea, Wolf, Ilene Sue   +25 more
core   +1 more source

Anaesthetic management of a patent ductus arteriosus (PDA) occlusion using an Amplatz canine duct occluder (ACDO) in a dog

, 2020
Patent ductus arteriosus (PDA) is one of the most common diagnosed congenital disease in dogs that usually causes heart failure and death unless corrected at a young age. A 2.5-year-old female intact Coton de Tuléar was referred and diagnosed with a left
Binetti, Anna, Bosmans, Tim, Schauvliege, Stijn, Smets, Pascale   +3 more
core   +1 more source

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

Tratamiento farmacológico del conducto arterioso permeable en recién nacidos prematuros

Revista de la Facultad de Medicina, 2019
Introducción. Por lo general, el manejo farmacológico del conducto arterioso permeable (CAP) comprende inhibidores no selectivos de la enzima ciclooxigenasa, en especial indometacina e ibuprofeno.
Hellmann Adrián Escobar, Gyhill Meneses-Gaviria, Nataly Revelo-Jurado, Julián Felipe Villa-Rosero, Jhon Edison Ijají Piamba, Alexander Burbano-Imbachí, Anuar Alonso Cedeño-Burbano   +6 more
doaj   +1 more source

Genotype–Phenotype Correlations, Mortality, and Clinical Insights in Keratitis–Ichthyosis–Deafness Syndrome: A Comprehensive Review and Case Report

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Keratosis–ichthyosis–deafness (KID) syndrome is a rare autosomal dominant ectodermal disease caused by mutations in the GJB2 gene, which encodes the gap junction protein Connexin 26 (Cx26) located on Chr. 13q12.11. This study presents the first mortality analysis associated with KID syndrome, focusing on a case report of a Latin American ...
Leslie Patrón‐Romero, Marco Antonio Hernández Lepe, José de Jesús Manríquez Torres, Diego Daniel Aguirre‐Gómez, Natsuo Hayashi‐Mercado, Genaro Rodríguez Uribe, Tadeo Cerón, María Ruiz‐Gamboa, Jesús Alonso Gándara‐Mireles, Ismael Lares‐Asseff, Verónica Loera‐Castañeda, Jorge Alvelais‐Palacios, Lucrecia Arzamendi‐Cepeda, Lidia Magdalena Castañeda‐González, Adolfo García‐Barrón, Francisco Yamal Quiroz Herrera, Francisco González‐Salazar, Horacio Almanza‐Reyes   +17 more
wiley   +1 more source

Anatomic, histopathologic, and echocardiographic features in a dog with an atypical pulmonary valve stenosis with a fibrous band of tissue and a patent ductus arteriosus

Acta Veterinaria Scandinavica, 2017
Background Congenital pulmonary valve stenosis and patent ductus arteriosus are common congenital heart defects in dogs. However, concurrence of atypical pulmonary valve stenosis and patent ductus arteriosus is uncommon.
Hakyoung Yoon, Jaehwan Kim, Sang-Soep Nahm, Kidong Eom   +3 more
doaj   +1 more source

Patent arterial duct occlusion with two amplatzer duct occluder devices [PDF]

, 2011
It is accepted practice to close large patent arterial ducts (PDA) with Amplatzer duct occluder devices, with extremely low rates of residual PDA. This article reports a child who required device closure of PDA with two Amplatzer PDA devices on two ...
DeGiovanni, Joseph V., Grech, Victor E.
core   +1 more source

Genotype–Phenotype Correlation in TTC7A‐Associated Gastrointestinal Defects and Immunodeficiency Syndrome 1

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Gastrointestinal defects and immunodeficiency syndrome 1 (GIDID1) is a rare autosomal recessive disorder caused by biallelic variants in TTC7A. GIDID1 is characterized by a broad clinical spectrum ranging from very early‐onset inflammatory bowel disease (VEOIBD) to multiple intestinal atresia (MIA) with or without immunological manifestations.
Julia Imhoff, Hans Christian Schmidt, Matthias Hans Belau, Johanna Hagens, Mario Lange, Daniel Tegtmeyer, Konrad Reinshagen, Frederike Leonie Harms, Christian Tomuschat   +8 more
wiley   +1 more source