Results 251 to 260 of about 373,905 (314)

PUS7 Deficiency: Phenotypical Expansion of PUS7‐Related Neurodevelopmental Disorders

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic variants in PUS7, encoding pseudouridine synthase 7, cause a rare neurodevelopmental disorder marked by intellectual disability, microcephaly, short stature, and behavioral disturbances. Since the first report in 2018, only 16 patients have been described.
Alice Muda, Barbara Belmessieri, Patrizia Accorsi, Jessica Galli, Edoardo Errichiello, Lucio Giordano   +5 more
wiley   +1 more source

Early post-operative hemodynamic recovery in infants with congenital diaphragmatic hernia. [PDF]

Eur J Pediatr
Ali K, Nandunjappa M, Homedi A, Arattu Thodika FM, Subba-Rao R, Almahdi M, Alsaif S, Ali I, Bhat R, Harris C, Dassios T, Greenough A.   +11 more
europepmc   +1 more source

Associations of High-Sensitivity Cardiac Troponin and N-Terminal Pro-B-Type Natriuretic Peptide With Echocardiographic Features in Patients With Hypertension. [PDF]

J Clin Hypertens (Greenwich)
Wang M, Li X, Qiu L, Wang Z, Li J, Sun J, Han L, Yang N, Hao Y, Hu R, Qi Y, Liu J.   +11 more
europepmc   +1 more source

Spectrum of Congenital Anomalies in Myhre Syndrome—Insights Into Effects Brought by Altered TGF‐β Signaling via Gain‐of‐Function Variants in SMAD4

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is a rare genetic disorder characterized by progressive multisystem involvement. Gain‐of‐function missense heterozygous variants affecting the Ile500 residue and Arg496 residue of the SMAD4 gene are implicated in this condition.
Kawmadi Gunawardena, Alessandro De Falco, Deborah Osio, Eleanor Sherlock, Emma Kivuva, Erina Sasaki, Francis H. Sansbury, Nayana Lahiri, Patricia Foley, Sahar Mansour, Shane McKee, Tazeen Ashraf, Nicola Brunetti‐Pierri, Usha Kini   +13 more
wiley   +1 more source

Myocardial work efficiency in children with Wolff-Parkinson-White preexcitation before and after accessory pathway ablation. [PDF]

Front Cardiovasc Med
Hadžić T, Iurchenko O, Kovanda J, Tomek V, Tavačová T, Kubuš P, Janoušek J.   +6 more
europepmc   +1 more source

Giant left atrial myxoma presenting as malignant heart failure and rapid atrial fibrillation in a young adult: a case report. [PDF]

Eur Heart J Case Rep
Solórzano Flores C, Izaguirre Membreño A.   +1 more
europepmc   +1 more source

Flecainide in Structural Heart Disease: Reconsidering Its Role in Contemporary Arrhythmia Management. [PDF]

Life (Basel)
Karakasis P, Grigoriou K, Theofilis P, Iliakis P, Vlachakis PK, Ktenopoulos N, Apostolos A, Patoulias D, Antoniadis AP, Fragakis N.   +9 more
europepmc   +1 more source

Left Ventricular Unloading During Veno-Arterial Extracorporeal Membrane Oxygenation (VA-ECMO) in Toxic Shock: Successful ECpella Support After Massive Amlodipine Ingestion. [PDF]

Cureus
Sharma M, Tawayha M, Kieu NT, Katib H, Mosleh W.   +4 more
europepmc   +1 more source

A novel speckle-tracking index for predicting mortality following transcatheter aortic valve replacement. [PDF]

Quant Imaging Med Surg
Yang Y, Li X, Zhou W, Cai Y, Liang Y, Zhao Z, Li Q, Wei J, Peng Y, Meng W, Feng Y, Tang H, Wei X, Chen M.   +13 more
europepmc   +1 more source