Results 81 to 90 of about 719,824 (250)

Inflammation Unchecked: Concurrent Kawasaki Disease and Stevens‐Johnson Syndrome in an 18‐Month‐Old Child

Arthritis Care &Research, EarlyView.
Catherine Deffendall, Jodi Backalar, Elizabeth Acevedo Zapata, Adriana Della Porta, Lorin Bibb, Tyler Reese, Charlotte M. Brown   +6 more
wiley   +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

Totally endoscopic pulmonary valve replacement

, 2023
A 68-year-old man with a history of valve-sparing aortic root replacement and endoscopic aortic valve replacement was admitted to our hospital with dyspnea. Transthoracic echocardiography revealed severe pulmonary valve regurgitation.
Tetsushi Takayama (17015182), Hidenori Sako (17015188), Ryotaro Nagashima (6065780), Takeshi Wada (1524451), Kenya Kizu (17015179), Shinji Miyamoto (17015185)   +5 more
core   +1 more source

Therapy for Myhre Syndrome: Goals, Misconceptions, and Current Agents

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre Syndrome (MYHRS, MIM #139210) is a rare, multisystem connective tissue disorder caused by recurrent heterozygous gain‐of‐function pathogenic variants in the SMAD4 gene, a key player in TGF‐β signaling and a regulator of extracellular matrix homeostasis.
Alessandro De Falco, Alfonso Manuel D'Alessio, Nicola Brunetti‐Pierri   +2 more
wiley   +1 more source

Case Report of Absent Pulmonary Valve with Intact Interventricular Septum

Journal of the Indian Academy of Echocardiography & Cardiovascular Imaging
Absent pulmonary valve syndrome is a rare cardiac malformation, usually associated with tetralogy of Fallot. Its presence with intact interventricular septum is even less common with case reports or very small series in the literature. We describe a case
Deendayal Nagar, Ul Ayoub Touseef, Satish Koirala, Neeraj Awasthy   +3 more
doaj   +1 more source

Review of the Molecular and Developmental Basis of Myhre Syndrome, Bench Research

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome (MS) is a connective‐tissue disorder within the acromelic dysplasia spectrum. It is characterized by congenital craniofacial, skeletal, cutaneous anomalies, respiratory, cardiovascular along with intellectual disability, deafness, and progressive fibrosis.
Camille Viaut, Valerie Cormier‐Daire
wiley   +1 more source

Severe pulmonary hypertension in weaning from cardiopulmonary bypass following double Ozaki procedure: a case report

JA Clinical Reports
Background Ozaki surgery, which reconstructs cardiac valves using autologous pericardium, is commonly performed for aortic valve replacement and offers benefits such as avoiding anticoagulation and reducing valve degeneration. However, its application to
Jin Sato, Hideki Hino, Ryota Watanabe, Takashi Mori   +3 more
doaj   +1 more source

Cardiac morphological and morphometric analysis of Ardea alba

The Anatomical Record, EarlyView.
Abstract Ardea alba (Linnaeus, 1758) is a widely distributed heron species whose cardiovascular morphology remains poorly described. This study aimed to characterize the cardiac morphology and morphometry of adult A. alba. Ten specimens were analyzed using radiographic, morphometric, histological, scanning electron microscopy, and three‐dimensional ...
Julia Vaz Feio, Max Alex Santos Ferreira, Elane Guerreiro Giese, Érika Branco, Antônio Basílio Guerreiro Junior, Ana Rita de Lima   +5 more
wiley   +1 more source

Predictors of successful pulmonary valve-sparing repair in pediatric humanitarian patients with Tetralogy of Fallot

Journal of Cardiothoracic Surgery
Introduction The optimal surgical approach for right ventricular outflow tract obstruction in Tetralogy of Fallot aims to preserve the native pulmonary valve annulus, as this is associated with better long-term outcomes.
Vitor Mendes, Abdelkhalek Mouloudi, Jalal Jolou, Tomasz Nalecz, Ana Abecasis, Telmo Pereira, Tornike Sologashvili   +6 more
doaj   +1 more source

Preclinical Evaluation of a Growth‐Accommodating Transcatheter Pulmonary Valve System for Young Children

Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease
Background Congenital heart defects affect approximately 1% of births in the United States and Europe, with >1 million children in the United States living with congenital heart defects.
Nnaoma Agwu, Daryl Chau, Gregory S. Kelley, Tanya Burney, Ekaterina Perminov, Christopher Alcantara, Michael R. Recto, Arash Kheradvar   +7 more
doaj   +1 more source