Results 231 to 240 of about 881,771 (304)

Multimodality imaging of patent ductus arteriosus with severe pulmonary hypertension following 3 pregnancies. [PDF]

Radiol Case Rep
Corsi D, Mousa A, Patel D, Albert C, Grewal J, Wang Y, Hamirani Y.   +6 more
europepmc   +1 more source

Agricultural Injuries With Dementia: Double Whammy?

American Journal of Industrial Medicine, EarlyView.
ABSTRACT Background Nearly 40% of US farmers are over 65 years old. Some emerging evidence links agricultural occupational exposure to increased dementia risk. However, little is known about dementia and injury outcomes in agricultural settings. Methods We employed data from the American College of Surgeons Trauma Quality Programs Participant Use File (
Kanika Arora, Jonathan Davis, Lila B. Basnet, Julie Bobitt   +3 more
wiley   +1 more source

Group 5 Pulmonary Hypertension Resulting From Thyrotoxicosis During Pregnancy. [PDF]

JACC Case Rep
Drummond R, Forbess L, Lankford A.
europepmc   +1 more source

Gastrointestinal Manifestations in Rubinstein‐Taybi Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Rubinstein–Taybi syndrome is a rare genetic condition associated with a wide range of physical, cognitive, and developmental impairments, yet its gastrointestinal manifestations remain poorly characterized. Case reports and small series suggest a high prevalence of gastroesophageal reflux, constipation, dysphagia, and nutritional compromise ...
Mohamad Abi Nassif, Ajay Kaul, Lev Dorfman, Khalil El‐Chammas   +3 more
wiley   +1 more source

Pulmonary Hypertension in Down Syndrome Versus Non-syndromic Pediatric Populations With Congenital Heart Disease: A Comparative Study. [PDF]

Cureus
Islam MT, Karim T, Mony SA, Bhuyan MMR, Islam F.   +4 more
europepmc   +1 more source

Optimizing Diagnostic Accuracy of Clinical Red Flags in RASopathies

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT RASopathies are a group of genetic disorders caused by pathogenic variants in the RAS‐mitogen‐activated protein kinase (RAS–MAPK) signaling pathway, often presenting with congenital heart defects, craniofacial dysmorphisms, and developmental delays. To assess the diagnostic yield of genetic testing in patients with suspected RASopathies and to
Emanuele Bobbio, Martina Caiazza, Emanuele Monda, Giustina Aruta, Alberto Budillon, Augusto Esposito, Adelaide Fusco, Annapaola Cirillo, Marta Rubino, Immacolata Viscovo, Gioacchino Scarano, Matteo Della Monica, Vincenzo Nigro, Giulio Piluso, Leandro Pecchia, Maria Giovanna Russo, Giuseppe Limongelli   +16 more
wiley   +1 more source

The potential effect of calcium sensitizer in pulmonary hypertension post-coronavirus disease-19 infection in presumptive familial dilated cardiomyopathy: a case report. [PDF]

J Med Case Rep
Andryan DP, Hasanah DY, Atmadikoesoemah CA.   +2 more
europepmc   +1 more source

Differentiating the Clinical and Variant Spectrum of Hardikar Syndrome From Other MED12‐Related Developmental Disorders

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The rare X‐linked female‐restricted Hardikar syndrome (HDKR, OMIM # 301068) is characterized by multiple congenital anomalies including orofacial clefts, gastrointestinal, genitourinary, and cardiac anomalies, but cognitive and neurobehavioral development is rarely impaired.
Tinne Warmoeskerken, Miel Theunis, Kris Van den Bogaert, Koenraad Devriendt, Jeroen Breckpot   +4 more
wiley   +1 more source

Marked clinical and haemodynamic improvement with sotatercept in severe refractory pulmonary arterial hypertension associated with corrected complex congenital heart disease. [PDF]

Respir Med Case Rep
Ramos D, Dos L, Andrade A, Chiriboga JJ, Saez-Gimenez B, Cantero Á, Revilla-Lopez E, Berastegui C, López-Meseguer M.   +8 more
europepmc   +1 more source

Complex Genetic Architecture in RASopathies: Constitutional PTPN11 and Mosaic RIT1 Pathogenic Variants Underlying Severe Noonan Syndrome With Adult‐Onset Acute Myeloid Leukemia

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Noonan syndrome (NS) is a genetically heterogeneous disorder characterized by a broad spectrum of clinical features resulting from dysregulation of the RAS/MAPK pathway. Although complex genotypes are increasingly recognized in NS, cases harboring two distinct pathogenic variants in different NS genes remain extremely rare.
Francesco Prevedello, Dario Seif Ali, Chiara Piccolo, Chiara Rigon, Monica Forzan, Elena Tacchetto, Roberta Palmitessa, Davide Calosci, Leonardo Salviati, Carmela Gurrieri, Eva Trevisson   +10 more
wiley   +1 more source