Results 51 to 60 of about 68,298 (346)

The inferior caval vein draining into the left atrial cavity : a rare case [PDF]

, 2011
The inferior vena cava (IVC) draining into the left atrium (LA) is exceedingly rare in the setting of the usual atrial arrangement (situs solitus).
McCarthy, Karen, Shiina, Y., Slavik, S., Uemura, H., Yen Ho, S.   +4 more
core  

Comparison of regional blood flow values measured by radioactive and fluorescent microspheres [PDF]

, 2002
Fluorescent microspheres (FM) have become an attractive alternative to radioactive microspheres (RM) for the measurement of regional blood flow (RBF). The aim of the present study was to investigate the comparability of both methods by measuring RBF with
Habler, O., Harris, A. G., Kleen, M., Meisner, F., Messmer, K., Raab, S., Thein, E.   +6 more
core   +1 more source

Genotypes and Phenotypes of Patients With TSPEAR‐Related Disorder: Evidence of a Predominant Dental Phenotype

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT TSPEAR (chr. 21q22.3) encodes a protein involved in tooth development and is predominantly expressed in the enamel knot. Biallelic loss of function variants in TSPEAR cause ectodermal dysplasia, tooth agenesis and sensorineural hearing loss. However, the role of TSPEAR in auditory processes is unclear.
Debora Vergani, Lucia Tiberi, Annarita Giliberti, Elia Dirupo, Laila Zaroili, Francesco Brancati, Michela Brena, Stefano Caraffi, Chiara De Luca, Livia Garavelli, Anna Virginia Gulino, Milena Mariani, Marzia Pollazzon, Angelo Selicorni, Samuela Landini, Ilaria Sani, Rosangela Artuso, Angela Peron   +17 more
wiley   +1 more source

Single Atrium and Miscarriages

The Thoracic & Cardiovascular Surgeon Reports, 2020
Background A single atrium is a very rare heart condition, in which the inter atrial septum is missing. These congenital heart defects usually are surgically corrected after birth. Case Presentation We present a successful surgical repair of a
Fatos Kojqiqi, Arben Kojqiqi, Ismet Jusufi, Besnik Kojcici   +3 more
doaj   +1 more source

Respiratory Involvement in HIST1H1E‐Related Rahman Syndrome: A Case of Severe Mixed Apnea

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Rahman syndrome (HIST1H1E‐related neurodevelopmental syndrome, OMIM #617537) is a rare autosomal‐dominant condition caused by truncating variants in the C‐terminal domain of the HIST1H1E gene. It is characterized by macrocephaly, hypotonia, craniofacial anomalies, and multisystem anomalies.
Nada Barakat, Marjolaine Champagne, Mathieu Bergeron, Philippe Dodin, Nadia Roumeliotis   +4 more
wiley   +1 more source

Genetic and Phenotypic Features of the Five Known Polyaminopathies: A Critical Narrative Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Polyaminopathies are a recently described family of rare genetic neurodevelopmental disorders. Polyaminopathies disrupt the biosynthesis of the primary polyamines: putrescine, spermidine, and spermine. Snyder–Robinson syndrome results from hemizygous loss‐of‐function variants in the spermine synthase (SMS) gene, resulting in decreased or ...
Elizabeth A. VanSickle, Sara M. Sarasua, Tracy Lowe, Christopher L. Farrell, Luigi Boccuto, Charles Schwartz, Anthony E. Pegg, Angela Peron, Victor Faundes, Mythily Ganapathi, Wendy K. Chung, Alban Ziegler, Floris Hofstede, Clément Prouteau, Katharina Steindl, Colleen Olson, Orrin Devinsky, Teresa L. Mastracci, Robert A. Casero Jr., Tracy Murray Stewart, Susan Gilmour, Teri Koerner, Mary Jo Kutler, Surender Rajasekaran, Julianne Michael, André S. Bachmann, Caleb P. Bupp   +26 more
wiley   +1 more source

Different faces of atrial septal aneurysm

Annals, Academy of Medicine, Singapore
Atrial septal aneurysm (ASA) is a well-recognised abnormality on the echocardiogram with a prevalence rate of 2–3%. It is a mobile, localised saccular deformity of the atrial septum and is defined as excursion of the septal tissue of greater than 10 mm ...
Ting Wei Teo, Tiong Chen Yeo
doaj   +1 more source

Influence of Atrioventricular Nodal Reentrant Tachycardia Ablation on Right to Left Inter-atrial Conduction [PDF]

, 2005
Background: Radiofrequency (RF) catheter ablation is the procedure of choice for the potential cure of atrioventricular nodal reentrant tachycardia (AVNRT) with high success rates.
Akyol, Ahmet, Eksik, Abdurrahman, Erdinler, Izzet, Norgaz, Tugrul   +3 more
core   +2 more sources

Brugada Syndrome: New Implications for Heterozygous Carriers of the Pathogenic SCN5A c.689T>C(p.Ile230Thr) Variant

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic variants in the SCN5A gene and its subunits have been identified in individuals with Brugada Syndrome. One such SCN5A variant, c.689T>C(p.Ile230Thr), was previously reported as disease‐causing only in homozygous individuals, with heterozygous carriers being unaffected.
Shayla Shojaat, Benjamin Hale, Taylor Warner   +2 more
wiley   +1 more source

Embryonic Heart Development in Play-Doh

MedEdPORTAL, 2010
This resource uses Play-Doh to sequentially illustrate (1) folding of the heart tube into a primitive heart, (2) septation of the primitive ventricles and outflow tract by the truncoconal septum, and (3) septation of the primitive atrium by the septum ...
Elmus Beale
doaj   +1 more source