Results 91 to 100 of about 498,738 (296)

Holography-guided procedural planning for modifying Venus P-valve implantation technique in patients with left pulmonary artery stents: a case-series

Frontiers in Cardiovascular Medicine
BackgroundVenus P-valve™ (Venus Medtech, Hangzhou, China) is a self-expandable bioprosthetic valve that can be transcatheter-implanted in native right ventricular outflow tract (RVOT) patients. Valve implantation is technically challenging.
Angelo Fabio d’Aiello, Laura Schianchi, Francesca Bevilacqua, Paolo Ferrero, Angelo Micheletti, Diana Gabriela Negura, Giulia Pasqualin, Massimo Chessa, Massimo Chessa   +8 more
doaj   +1 more source

Two Cases of Congenital Heart Disease in Adults [PDF]

, 1908
E. Murray Leslie
openalex   +1 more source

Further Evidence That Chondrocalcinosis 1 (CCAL1) is a Confirmed Mendelian Phenotype With a Known Molecular Basis

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Chondrocalcinosis (CCAL), also known as calcium pyrophosphate dihydrate deposition disease (CPPDD), is a frequent multifactorial condition in the elderly, but there are two rare autosomal dominant Mendelian forms, CCAL1 (OMIM %600668) and CCAL2. Only three families with molecularly proven CCAL1 have been reported.
Anna‐Christina Pansa, Mareike Selig, Markus Wingendorf, Matthew A. Brown, Oliver Bartsch   +4 more
wiley   +1 more source

Three Cases of Congenital Heart Disease with Cyanosis, in Adults [PDF]

, 1929
D. Evan Bedford
openalex   +1 more source

Identification and Characterization of a Novel Biallelic SLC12A2 Variant Associated With Kilquist Syndrome (OMIM #619080)

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT This study presents the case of a child with multiple congenital anomalies, severe hypotonia, and profound bilateral sensorineural hearing loss. Functional bioenergetic assessments showed no significant mitochondrial respiratory defects, and riboflavin (Rf) status evaluation excluded a deficiency in Rf transporters as a cause of hearing loss ...
Piero Leone, Alessia Nisco, Luciana de Gennaro, Maria Tolomeo, Elisa Lorefice, Giuseppe Petrosillo, Silvia Russo, Donatella De Giovanni, Claudia Rita Catacchio, Francesca Romana Lepri, Mario Ventura, Simonetta Simonetti, Albina Tummolo, Maria Barile   +13 more
wiley   +1 more source

PULMONARY HYPERTENSION IN CONGENITAL HEART DISEASE [PDF]

, 1958
W. Evans, D Short
openalex   +1 more source

Congenital Disease of the Bones [PDF]

The Boston Medical and Surgical Journal
n ...
openaire   +2 more sources

Genotype–Phenotype Correlation in TTC7A‐Associated Gastrointestinal Defects and Immunodeficiency Syndrome 1

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Gastrointestinal defects and immunodeficiency syndrome 1 (GIDID1) is a rare autosomal recessive disorder caused by biallelic variants in TTC7A. GIDID1 is characterized by a broad clinical spectrum ranging from very early‐onset inflammatory bowel disease (VEOIBD) to multiple intestinal atresia (MIA) with or without immunological manifestations.
Julia Imhoff, Hans Christian Schmidt, Matthias Hans Belau, Johanna Hagens, Mario Lange, Daniel Tegtmeyer, Konrad Reinshagen, Frederike Leonie Harms, Christian Tomuschat   +8 more
wiley   +1 more source

Initial clinical experience with dapagliflozin in addition to optimized medical therapy in paediatric heart failure patients

ESC Heart Failure
Aims Dapagliflozin, a sodium‐glucose cotransporter 2 (SGLT2) inhibitor, has shown clinical benefits in adults with heart failure (HF), improving cardiac function, reducing HF‐related hospitalizations and enhancing survival rates.
Lisa‐Maria Rosenthal, Oliver Miera, Annemarie Krauss, Friederike Danne, Felix Berger, Peter Kramer   +5 more
doaj   +1 more source

Aortic valve neo-cuspidation using the Ozaki technique for acquired and congenital disease: where does this procedure currently stand? [PDF]

Indian J Thorac Cardiovasc Surg, 2020
Baird CW, Marathe SP, Del Nido PJ.
europepmc   +1 more source