Results 151 to 160 of about 232,772 (264)

Patterns of right ventricular reverse remodeling and hemodynamic drivers in serial balloon pulmonary angioplasty. [PDF]

Front Med (Lausanne)
Wang L, Xiong Z, An Q, Zhao Q, Wu W, Gong S, He J, Qiu H, Luo C, Li H, Xu J, Yuan P, Zhang R, Wang L, Zhang H, Liu J, Jiang R.   +16 more
europepmc   +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

Flow-Driven Right-to-Left Shunting Through the Patent Foramen Ovale Causing Hypoxemia and Embolism in a Partial Uhl Anomaly. [PDF]

JACC Case Rep
Laboratto LE, Vannoni G, Nieto G, Rancati J, Balletti L, Cestari G, Gagliardi JA, Kazelian L, Lax J.   +8 more
europepmc   +1 more source

Defining Features of Gabriele‐de Vries Syndrome in Adults: A Case Report and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Gabriele‐de Vries syndrome (GADEVS) is a neurodevelopmental disorder caused by heterozygous pathogenic variants in the YY1 gene. Like most rare genetic syndromes, the adult manifestations of GADEVS remain poorly defined. Here, we describe the oldest patient reported to date with GADEVS—a 63‐year‐old woman with a c.1177_1179del YY1 variant ...
Ethan W. Hollingsworth, Changrui Xiao
wiley   +1 more source

Characteristics and prognostic significance of right atrium remodeling and tricuspid regurgitation after balloon pulmonary angioplasty-application value of echocardiography. [PDF]

BMC Cardiovasc Disord
Ma Y, Guo D, Wang J, Zhang X, Hu H, Wang Y, Yang Y, Lv X, Gong J, Li Y.   +9 more
europepmc   +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

Electrocardiographic and Skin Manifestations of Turner Syndrome: Association With Cardiovascular Disease

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Congenital heart disease (CHD) and dermatologic conditions such as lymphedema and acquired melanocytic nevi (AMN) are common in Turner Syndrome (TS). We hypothesized that abnormalities of cranial neural crest cell derivatives drive the skin and heart manifestations of TS. We conducted joint cardiac and skin examinations of volunteers at a 2023
Sarah Elsaim, Brett Vernier, Van Thi Thanh Truong, Riya T. Patel, Matthew Brown, Martin Chacon Portillo, Megan Rogge, David Rodriguez‐Buritica, Siddharth K. Prakash   +8 more
wiley   +1 more source

Repurposing Medications for Treatment of Pulmonary Arterial Hypertension: What's Old Is New Again

Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, 2019
Kurt W. Prins, Thenappan Thenappan, E. Kenneth Weir, Rajat Kalra, Marc Pritzker, Stephen L. Archer   +5 more
doaj   +1 more source

Recurrent Takotsubo Syndrome and Pulmonary Embolism Revealing a Pheochromocytoma: A Diagnostic Pitfall. [PDF]

Cureus
Said IsmaIl AA, Moyambi J, Arous S, Drighil A, Meftout B.   +4 more
europepmc   +1 more source

De Novo 2.2 Mb 19q13.42–q13.43 Microdeletion Encompassing U2AF2: Support for a Haploinsufficiency Model

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT U2 small nuclear RNA auxiliary factor 2 (U2AF2) is an essential pre‐mRNA splicing factor involved in the early stages of pre‐mRNA splicing. To date, multiple individuals have been reported with predominantly heterozygous missense variants presenting intellectual disability, speech and motor delays, seizures, hypotonia, and thin or hypoplastic ...
Amanda Toledo, Sarah Araji, Weimin Bi, Seema R. Lalani   +3 more
wiley   +1 more source