Results 111 to 120 of about 1,819,855 (334)

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

Critical Care Ultrasonography and Its Application for COVID-19 [PDF]

, 2020
Ultrasound has developed as an invaluable tool in diagnosis and proper management in the intensive care unit (ICU). Application of critical care ultrasonography is quite distinct from the routine comprehensive diagnostic ultrasound exam, because the ...
Chong, MD, Weelic, Hai, MD, Yang, Liu, MD, Ji-Bin, Liu, MD, Xi, Ma, MD, Bin   +4 more
core   +1 more source

Respiratory distress due to nasopharyngeal hamartoma. [PDF]

, 1969
B. D. Birt, E B Knight-Jones
openalex   +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

Giant pulmonary bulla with mediastinal shift in a 12 1/2 year old girl [PDF]

, 2012
Pulmonary bulla in children represent interesting entities. Mostly congenital bronchopulmonary foregut malformations and acquired cysts like pneumatocoeles have also been described.
Ashfaq, Awais, Fatimi, Saulat H., Jafferani, Asif   +2 more
core   +1 more source

Neonatal drug depression and respiratory distress managed by positive pressure ventilation and exchange transfusion. [PDF]

, 1969
Julie Young, Suhair Moayid Rasheed
openalex   +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

Management of infants with postoperative respiratory distress [PDF]

, 1964
David Allan, B. Kay
openalex   +1 more source

Selective PAR2 Inhibition Attenuates HDM‐Induced Th1/Th2 Responses in Human Epithelial and Murine Models of Allergic Rhinitis and Asthma

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Allergic rhinitis (AR) and asthma are involved in complex interactions between Th1 and Th2 inflammatory pathways. House dust mite (HDM) activates protease‐activated receptor 2 (PAR2) to trigger inflammatory responses, but current treatments often provide inadequate control.
Miran Kang, Yohan Seo, Ju Hee Seo, Yeonsu Jeong, Hyejin Jeon, Su‐Myeong Jang, Chang‐Hoon Kim, Wan Namkung, Hyung‐Ju Cho   +8 more
wiley   +1 more source

Late Prolonged Respiratory Distress Syndrome (Wilson-Mikity 1960) [PDF]

, 1966
Jamil Ibrahim, Alex Russell
openalex   +1 more source