Results 181 to 190 of about 311,910 (353)

Phenotype Expansion of Malan Syndrome: New Cases and a Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Malan syndrome is an ultra‐rare overgrowth syndrome caused by pathogenic variants or deletions in nuclear factor one X (NFIX) located at 19p13.2. Here, we report a comprehensive literature review and phenotyping of known patients with Malan syndrome and present a novel cohort of eight patients.
Alex F. Nisbet, Sylvie A. Adams, Zoe S. Katz, Christal G. Delagrammatikas, Kosuke Izumi, Winifred Sigal, Kim Ventarola, Elaine H. Zackai, Julia E. Reid, Grant T. Liu, Jennifer M. Kalish   +10 more
wiley   +1 more source

Long‐Term Follow Up of Two Patients With Variants in the Cluster 1031‐1159 of TRRAP Gene: Expanding the Phenotype of Developmental Delay With or Without Dysmorphic Facies and Autism

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The transformation/transcription domain‐associated protein (TRRAP) gene encodes a large multidomain protein, a member of the phosphatidylinositol 3‐kinase‐related kinase (PIKK) family. TRRAP is a component of the histone acetyltransferase (HAT) complex, and it plays an important role in gene transcription, DNA repair, and cell‐cycle regulation.
Roseli Maria Zechi‐Ceide, Vinicius Contrucci Dantas Segarra, Siulan Vendramini‐Pittoli, Henrique Regonaschi Serigatto, Luiza Virmond, Heloisa Marcelina da Cunha Palhares, Fernanda Jehee, Ana Cristina Victorino Krepischi, Carla Rosenberg, Carlos Henrique Paiva Grangeiro, Nancy Mizue Kokitsu‐Nakata   +10 more
wiley   +1 more source

Percutaneous OxyRVAD in a Patient with Severe Respiratory Failure and Right Heart Failure: A Case Report

Journal of Chest Surgery
Venovenous extracorporeal membrane oxygenation (VV ECMO) is often used in cases of severe respiratory failure, especially in patients considered for lung transplantation. However, because many lung diseases can ultimately result in right heart failure,
Ga Young Yoo, June Lee, Seok Beom Hong, Do Yeon Kim   +3 more
doaj   +1 more source

Targeted Anti‐IL‐1 Immunomodulatory Therapy in Pediatric Onset PPP1R13L‐Related Arrhythmogenic Cardiomyopathy

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal recessive loss‐of‐function variants in PPP1R13L cause an ultra‐rare cardiocutaneous syndrome characterized by rapidly progressive arrhythmogenic cardiomyopathy (ACM). PPP1R13L encodes iASPP, which has two potentially overlapping mechanisms driving ACM as both a regulator of NFκB‐mediated inflammation and a binding partner within the ...
Aaron Renberg, Savannah Coppersmith, Owen Merritt, Amer Heider, Adam Helms, Thomas Michniacki, Jack Luxford, Sarah Josephi‐Taylor, Philip Roberts, Joshua Meisner   +9 more
wiley   +1 more source

Cross-bridge thermodynamics in pulmonary arterial hypertensive right-ventricular failure

, 2022
Toan Pham, Kenneth Tran, Andrew J. Taberner, Denis S. Loiselle, June‐Chiew Han   +4 more
openalex   +1 more source

The Homozygous p.(Arg215Ter) Variant in XRCC2 Is Associated With Atypical Fanconi Anemia Without Major Hematological Abnormalities in Childhood

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Fanconi Anemia (FA) is the most frequent inherited bone marrow failure syndrome. A role for the XRCC2 gene in FA was suspected in 2012 and confirmed in 2016, but only two affected individuals have been described thus far, and no long‐term follow‐up is available.
Sabina Cenciarelli, Giulia Bruna Marchetti, Maria Iascone, Maria Grazia Patricelli, Sara Giangiobbe, Gabriella Cinzia Pozzobon, Miriam Nella Savini, Fabio Giglio, Alessandro Aiuti, Paola Carrera, Francesca Ferrua, Angela Peron   +11 more
wiley   +1 more source

Use of Right Ventricular Support with a Centrifugal Pump in Post-Valve Surgery Right Ventricular Failure: A Case Series

Journal of Tehran University Heart Center, 2015
The optimal treatment method for right ventricular failure after valve surgery complicated by a low cardiac output has not been determined, although several case reports have been published on patients with ventricular failure and arrhythmia who were ...
AbdolRasoul Moulodi, GholamReza Sheibat-Zadeh, Feridoun Sabzi   +2 more
doaj  

Fatal right ventricular failure and pulmonary hypertension after protamine administration during cardiac transplantation

, 2016
Bibek Pannu, Devang Sanghavi, Pramod Guru, Dereddi Raja Reddy, Vivek Iyer   +4 more
openalex   +1 more source

Right ventricular-pulmonary arterial coupling for predicting death or heart failure admission in a broad population of patients with severe tricuspid regurgitation: data from the INTRICOR registry [PDF]

, 2023
Martín Ruiz Ortiz, Ch. Aviles, A. Ruiz, Mónica Delgado Ortega, D Mesa Rubio, Ana Almodóvar, F Esteban Martinez, G Heredia Campos, Ashley Collazo, Luis Carlos Maestre Luque, M Diaz Andrade, Andreea Nistor, Javier Herrera Flores, Alberto Torres Zamudio, M Pan Alvarez-Ossorio   +14 more
openalex   +1 more source

Resolution of Refractory Multifocal Atrial Tachycardia in Costello Syndrome Using Trametinib: A Case Supporting MEK Inhibitors as Targeted, Specific Antiarrhythmic

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Arrhythmias affect approximately half of patients with Costello syndrome (CS, OMIM # 218040), with non‐reentrant atrial tachycardia being the most common. This case describes an infant with Costello syndrome carrying the pathogenic HRAS c.34G>A (p.G12S) variant who developed early‐onset, drug‐refractory multifocal atrial tachycardia (MAT ...
Vanina Taliercio, Annabelle Wilcox, Stacey Cole, Josue Flores Daboub, José E. Morales Moreno, Kasey G. Andrews, S. Yukiko Asaki, Thomas A. Pilcher, Martin Tristani‐Firouzi, Mary C. Niu, David Viskochil, Benjamin Hammond   +11 more
wiley   +1 more source