Results 111 to 120 of about 498,738 (296)

STUDIES OF CONGENITAL HEART DISEASE. II. THE PRESSURE AND OXYGEN CONTENT OF BLOOD IN THE RIGHT AURICLE, RIGHT VENTRICLE, AND PULMONARY ARTERY IN CONTROL PATIENTS, WITH OBSERVATIONS ON THE OXYGEN SATURATION AND SOURCE OF PULMONARY “CAPILLARY” BLOOD 1 [PDF]

, 1947
L Dexter, Florence W. Haynes, C. Sidney Burwell, Eugene C. Eppinger, R. P. Sagerson, John M. Evans   +5 more
openalex   +1 more source

Basal Metabolic Requirements, Biomarkers of Cardiometabolic Health, and Anthropometric Measures of Obesity in Women and Men With Restricted Growth Conditions

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Population‐specific thresholds have not been defined for the levels of adiposity and systemic biomarkers that predict chronic health risks in people with restricted growth conditions. Here, anthropometric measures of adiposity, basal metabolic requirements, and fasted blood samples were obtained from adults with restricted growth (age 41 ± 14 ...
Lucy H. Merrell, Harry A. Smith, Harriet A. Carroll, Yung‐Chih Chen, Dylan Thompson, Javier T. Gonzalez, Greg Atkinson, James A. Betts   +7 more
wiley   +1 more source

CONGENITAL MALFORMATIONS OF THE APPENDIX—A FAMILIAL DISEASE

, 1942
Tracy M. Downs
openalex   +2 more sources

STUDIES OF CONGENITAL HEART DISEASE. III. VENOUS CATHETERIZATION AS A DIAGNOSTIC AID IN PATENT DUCTUS ARTERIOSUS, TETRALOGY OF FALLOT, VENTRICULAR SEPTAL DEFECT, AND AURICULAR SEPTAL DEFECT 1 [PDF]

, 1947
L Dexter, Florence W. Haynes, C. Sidney Burwell, Eugene C. Eppinger, Merrill C. Sosman, John M. Evans   +5 more
openalex   +1 more source

Sacroiliac Joint Involvement: An Underreported Complication of NF1

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT NF1‐related bone dysplasia in children and young adults with neurofibromatosis type 1 (NF1) involving the sacroiliac joint has been rarely described. We report four participants who underwent whole‐body magnetic resonance imaging (WB‐MRI) as part of a longitudinal imaging and plexiform neurofibroma (PN) biomarker study (NCT05238909) at Ann ...
Jenny P. Garzon, Eva Dombi, Jonathan Samet, Maria P. Silva, Carolyn R. Raski, Michael Sawin, Carlos E. Prada   +6 more
wiley   +1 more source

TBX3‐ Related Disorder

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Heterozygous pathogenic variants in TBX3 cause Ulnar‐Mammary syndrome (UMS). The phenotype is classically characterized by upper limb defects, apocrine/mammary gland hypoplasia, hypogonadism, and various midline defects. However, the clinical spectrum is highly variable, and some individuals may present with a mild or atypical presentation ...
Ziv Halperin, Karin Weiss
wiley   +1 more source

Tachyarrhythmias in congenital heart disease

Frontiers in Cardiovascular Medicine
The prevalence of congenital heart disease (CHD) in adult patients has risen with advances in diagnostic and surgical techniques. Surgical modifications and hemodynamic changes increase the susceptibility to arrhythmias, impacting morbidity and mortality rates, with arrhythmias being the leading cause of hospitalizations and sudden deaths.
Jaume Francisco-Pascual, Jaume Francisco-Pascual, Jaume Francisco-Pascual, Núria Mallofré Vila, Alba Santos-Ortega, Alba Santos-Ortega, Alba Santos-Ortega, Nuria Rivas-Gándara, Nuria Rivas-Gándara, Nuria Rivas-Gándara   +9 more
openaire   +5 more sources

An ITPR1 Variant in the IP3‐ITPR1 Binding Pocket Associated With a Clinical Phenotype of Athetoid Cerebral Palsy

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT A de novo, missense variant in ITPR1‐inositol 1,4,5‐trisphosphate receptor type 1 (ITPR1), p.(Tyr567Cys), was identified by trio whole‐genome sequencing in an individual diagnosed with Spinocerebellar ataxia 29 (SCA29) who was affected by cerebral palsy and global developmental delay.
Thania Ordaz, Jagadish Chandrabose Sundaramurthi, Adam S. Arterbery, Anita M. Bagley, Michael A Gargano, Jeremy P Bauer, Daniel Danis, Philip Giampietro, Ellen Raney, Lauren Rekerle, Mallory Shingle, Jon R. Davids, Peter N. Robinson   +12 more
wiley   +1 more source

Descending aorta to right atrial fistula: Transcatheter embolization of a very rare anomaly with coils

Clinical Case Reports
Key Clinical Message Descending aorta to right atrial (RA) fistula is a rare and distinct clinical entity mimicking patent ductus arteriosus (PDA) and it may lead to rapid development of pulmonary vascular disease.
Stefanos Despotopoulos, Sotiria Apostolopoulou, George Vagenakis, Meletios Kanakis, George Samanidis, Panagiotis Zachos, Anastasios Chatziantoniou, John Papagiannis, Spyridon Rammos, Alexandros Tsoutsinos   +9 more
doaj   +1 more source

Heart Block Associated with Congenital Heart Disease [PDF]

, 1928
M. E. Lampard
openalex   +1 more source