Results 51 to 60 of about 122,214 (294)

Differentiating the Clinical and Variant Spectrum of Hardikar Syndrome From Other MED12‐Related Developmental Disorders

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The rare X‐linked female‐restricted Hardikar syndrome (HDKR, OMIM # 301068) is characterized by multiple congenital anomalies including orofacial clefts, gastrointestinal, genitourinary, and cardiac anomalies, but cognitive and neurobehavioral development is rarely impaired.
Tinne Warmoeskerken, Miel Theunis, Kris Van den Bogaert, Koenraad Devriendt, Jeroen Breckpot   +4 more
wiley   +1 more source

Rate-dependent and antiarrhythmic reentrant tachycardia (AVNRT) effects of simvastatin in isolated rabbit atrioventricular nodal model [PDF]

, 2010
Background and purpose: Several previous studies have shown the direct and indirect effects of statins on supraventricular and ventricular arrhythmia. The purpose of the present study is to determine (1) whether Simvastatin modifies the rate-dependent ...
Alizadeh, A.M., Alizadeh, F., Badaghabadi, F., Changizi, S., Khori, V., Najafi, S.A., Nayebpour, M., Pourabouk, M., Salehi, A.   +8 more
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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

Cesarean section under spinal anesthesia in acquired complete atrioventricular block without a pacemaker: A case report

Clinical Case Reports, 2019
Pregnancy with complete atrioventricular block is rare, and its perioperative management is controversial. We successfully managed cesarean section in a pregnancy with acquired complete atrioventricular block under spinal anesthesia without a pacemaker ...
Shungo Aratake, Atsushi Yasuda, Shigehito Sawamura   +2 more
doaj   +1 more source

Novel Left Atrioventricular Valvuloplasty for Atrioventricular Septal Defect [PDF]

The Annals of Thoracic Surgery, 2019
An infant boy with 21 trisomy was diagnosed with complete atrioventricular septal defect-Rastelli type A with parachute left atrioventricular valve and absent left mural leaflet. Biventricular repair was difficult in infancy because the left ventricular volume and left atrioventricular valve annulus were too small.
Motonori, Ishidou, Kazuyoshi, Kanno, Kenta, Imai, Masaya, Murata, Keiichi, Hirose, Hisao, Nagato, Akio, Ikai, Kisaburo, Sakamoto   +7 more
openaire   +2 more sources

Age-dependent dynamic electrophysiological field potential behavior of atrioventricular node during experimental AF in rabbit [PDF]

, 2010
Introduction: Electrophysiological studies have demonstrated a relationship between aging and atrioventricular (AV) nodal conduction and refractoriness.
Alizadeh, A.-M., Badaghabadi, F., Changizi, S., Khori, V., Nayebpour, M., Pourabouk, M., Salehi, A., Saleki, S.   +7 more
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Marfan Syndrome Associated With Intellectual Disability and Behavioral Anomalies: Further Evidence for the Effect of Compound Heterozygous Variants in FBN1 on Phenotypic Severity

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Marfan syndrome (MFS) is a rare connective tissue disorder characterized by involvement of the cardiovascular, ocular, and musculoskeletal systems. Pathogenic variants in FBN1 cause most of the MFS cases; however, intellectual disability (ID) is rarely observed. A non‐consanguineous Pakistani family with four affected individuals was recruited.
Azmatullah Khan, Naseebullah Kakar, Ainullah Kakar, Malte Spielmann, Sajid Malik   +4 more
wiley   +1 more source

Facilitating Genetic Testing for Perinatal Demise: Development of a Multidisciplinary Workflow

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Genetic contributors to perinatal demise are common but frequently undiagnosed due to clinical and logistical barriers. We aimed to improve access to genetic for intrauterine fetal demise (IUFD), stillbirth, and early neonatal death by developing a multidisciplinary workflow.
Mackenzie Mosera, Samantha Stover, Elise Boos, Molly Casey, Joseph Fanning, Chelsea Fechter, Matthew Grace, L. Dupree Hatch, Michaela Ibach, Carla Jackson, Jiancong Liang, Caitlin Mann, Emily A. Morris, Jessica Turnbull, Marie Williams, Bryce A. Schuler   +15 more
wiley   +1 more source

Bloqueio atrioventricular de 2° grau do tipo I Mobitz após aplicação de penicilina benzatina: relato de caso Bloqueo atrioventricular de 2º grado tipo Mobitz I después de la aplicación de penicilina benzatina: relato de caso Second degree atrioventricular block Mobitz type I after administration of benzathine penicillin: case report

Revista Brasileira de Anestesiologia, 2009
JUSTIFICATIVA E OBJETIVOS: O bloqueio atrioventricular de 2° grau do tipo I de Mobitz é observado como alteração transitória na presença de infarto de parede inferior ou de intoxicação medicamentosa.
Lúcia de Sousa Belém, Cristiano Aparecido Cavalcante Inácio   +1 more
doaj   +1 more source

Prolongation of AV nodal refractoriness by Ruta graveolens in isolated rat hearts [PDF]

, 2008
Objectives: To evaluate concentration-dependent effects of total extract of Rusta graveolens and its purified alkaloid fraction on the nodal basic and functional properties.
Golalipour, M.J., Khori, V., Marjani, A., Nayebpour, M., Semnani, S.   +4 more
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