Results 81 to 90 of about 23,188 (240)

A Path to Implement Precision Child Health Cardiovascular Medicine. [PDF]

, 2017
Congenital heart defects (CHDs) affect approximately 1% of live births and are a major source of childhood morbidity and mortality even in countries with advanced healthcare systems. Along with phenotypic heterogeneity, the underlying etiology of CHDs is
Brian Reemtsen, J. Paul Finn, Juan Alejos, Marlin Touma, Marlin Touma, Nancy Halnon, Stanley F. Nelson, Yibin Wang, Yibin Wang   +8 more
core   +2 more sources

Treatable Neonatal Molybdenum Cofactor Deficiency: Rapid Demise Despite Rapid Biochemical Diagnosis

JIMD Reports, Volume 67, Issue 1, January 2026.
ABSTRACT Molybdenum cofactor deficiency (MoCD) is an inborn error of metabolism included in the differential for refractory neonatal seizures. The prognosis is guarded, with a median reported age of death between 2.4 and 3.0 years. Mortality is primarily due to seizures and lower respiratory tract infections.
Molly M. Crenshaw, Yasmeen Midgette, Shruthi Mohan, Ruhan Wei, Mariele Anneling, Monika Williams, Milap Patel, Benjamin T. Cocanougher, Sarah P. Young, Dmitriy Niyazov, Areeg El‐Gharbawy, Ashlee R. Stiles   +11 more
wiley   +1 more source

International criteria for electrocardiographic interpretation in athletes: Consensus statement. [PDF]

, 2017
Sudden cardiac death (SCD) is the leading cause of mortality in athletes during sport. A variety of mostly hereditary, structural or electrical cardiac disorders are associated with SCD in young athletes, the majority of which can be identified or ...
Aagaard, Aaron Baggish, Ackerman, Anderson, Andre La Gerche, Antonio Pelliccia, Antzelevitch, Aro, Asif, Baggish, Bakken, Basavarajaiah, Bayés de Luna, Bazett, Behr, Bent, Bent, Bessem, Biffi, Biffi, Bjørnstad, Borjesson, Brosnan, Brosnan, Brosnan, Brosnan, Calore, Calore, Calò, Carmen Adamuz, Chad A Asplund, Chandra, Chen, Chou, Christian M Schmied, Chung, Chung, Cohen, Corrado, Corrado, Corrado, Corrado, Corrado, Daubert, David M Shipon, David S Owens, Daviglus, Delise, Delise, Desai, Dhutia, Di Paolo, Domenico Corrado, Drezner, Drezner, Drezner, Drezner, Drezner, Drezner, Drezner, Dunn, Eckart, Elliott, Eugene H Chung, Exeter, Finocchiaro, Fudge, Gati, Goldenberg, Gollob, Gordon Cohen, Groh, Haghjoo, Hancock, Hank F Pelto, Harmon, Harmon, Haïssaguerre, Heidbuchel, Heidbüchel, Hein Heidbuchel, Hill, Huston, Irfan M Asif, Jack C Salerno, James, Johnson, Johnson, Jonathan A Drezner, Jordan M Prutkin, Josef Niebauer, Joseph C Marek, Junttila, Kapplinger, Kim, Kim, Kimberly G Harmon, Klein, Klein, La Gerche, Lakdawala, Le, Link, MacAlpin, Macfarlane, Magalski, Magee, Malfatto, Malhotra, Marco V Perez, Marcus, Marek, Maron, Maron, Maron, Maron, Maron, Maron, Mason, Mathew G Wilson, Mats Borjesson, Meyer, Meytes, Michael J Ackerman, Michael Papadakis, Michael S Emery, Migliore, Nasir, Nathan R Riding, Northcote, Noseworthy, Noseworthy, Novak, Papadakis, Papadakis, Pelliccia, Pelliccia, Pelliccia, Pickham, Platonov, Postema, Price, Prior, Priori, Quattrini, Ranthe, Ranthe, Rautaharju, Rawlins, Ricardo Stein, Riding, Riding, Rose, Rosso, Rowin, Ruwald, Ryan, Saguner, Sahlén, Sanjay Sharma, Sathanandam, Sawant, Schnell, Schwartz, Schwartz, Schwartz, Sharma, Sheikh, Sheikh, Sheikh, Silvana Molossi, Sohaib, Stein, Surawicz, Taggart, Takken, Tan, Tess Saarel, Tester, Tester, Tester, Tikkanen, Tikkanen, Uberoi, Uberoi, Uhm, Verdile, Victor F Froelicher, Victoria L Vetter, Vincent, Viskin, Wasfy, Weiner, Wilde, Williams, Wilson, Xiao, Zaidi, Zorzi   +198 more
core   +2 more sources

The Management of Parkinson's Disease Before, during and after Pregnancy—an MDS Scientific Issues Committee Review

Movement Disorders Clinical Practice, Volume 13, Issue 1, Page 44-59, January 2026.
Abstract Background Pregnancy after a Parkinson's diagnosis presents complex challenges. Due to the paucity of literature, there is no evidence‐based guidelines and protocols for preconception care, management of pregnancy, childbirth and the postpartum period in women with early‐onset Parkinson's disease (PD).
Alexander C. Lehn, Jee‐Young Lee, Giorgia Sciacca, Stacy Patterson, Adam Morton, Paul Pun, Walaa A. Kamel, Marina Picillo, Bart Post, Eng‐King Tan, Tamine Capato, Bastiaan R. Bloem, Manon Auffret, Annelien M. Oosterbaan, Willanka Kapelle, Michiko K. Bruno, Lorraine V. Kalia, Jeffrey H. Kordower, Daniela Berg   +18 more
wiley   +1 more source

Refractory Ventricular Tachycardia in a Long QT Syndrome Child Successfully Controlled by Left Cardiac Sympathetic Denervation

Pediatrics and Neonatology, 2012
Long QT syndrome is a congenital disorder accompanied by a high incidence of sudden cardiac death. β-adrenergic blockade is the therapy of choice, and it is successful in 75–80% of patients.
Jih-Chin Chang, Chung-Ping Hsu, Betau Hwang, Pi-Chang Lee, Chi-Ren Tsai, Ming-Chih Lin, Sheng-Ling Jan, Yun-Ching Fu   +7 more
doaj   +1 more source

Torsades de pointes in the PACU after outpatient endoscopy: a case report

BMC Anesthesiology, 2021
Background This case demonstrates the severe electrolyte derangements that may present after a common therapy such as a bowel preparation for an outpatient procedure and the rare yet potential detrimental outcomes of those abnormalities.
Andrew Schaar, Mark Liu, Michael Patzkowski   +2 more
doaj   +1 more source

Position of Premature Termination Codons Determines Susceptibility of hERG Mutations to Nonsense-Mediated mRNA Decay in Long QT Syndrome

, 2014
The degradation of human ether-a-go-go-related gene (hERG, KCNH2) transcripts containing premature termination codon (PTC)mutations by nonsense-mediatedmRNA decay (NMD) is an importantmechanismof long QT syndrome type 2 (LQT2).
Gong, Qiuming, Stump, Matthew R., Zhou, Zhengfeng   +2 more
core   +1 more source

Evolutionary Covariant Positions within Calmodulin EF-hand Sequences Promote Ligand Binding [PDF]

, 2018
Intracellular calcium signaling is an essential regulatory mechanism through calcium-mediated signal transduction pathways involved in many cell processes, such as exocytosis, motility, apoptosis, excitability, transcription, and muscle contraction.
Vaidyanathan, Uma
core   +1 more source

CONGENITAL LONG QT SYNDROME MASKED BY AQUIRED LONG QT SYNDROME

Journal of the American College of Cardiology, 2016
Some patients with acquired long QT syndrome (LQTS) represent an incomplete form of congenital LQTS in which a mutation or polymorphism in one of the LQTS genes is clinically inapparent until the patient is exposed to a particular drug or other predisposing factor.
Hideka Hayashi, Hiroshi Fujita, Yoshimi Takahashi, Shinsuke Yamanaka, Tsuyoshi Shinozaki   +4 more
openaire   +1 more source

Case Report: Compound Heterozygous SCNN1B Mutations Causing Pseudohypoaldosteronism Type 1B2 in Neonatal Twins

Molecular Genetics &Genomic Medicine, Volume 14, Issue 1, January 2026.
First Chinese neonatal cases of systemic PHA1B from novel compound‐heterozygous SCNN1B variants (c.585+2T>C; c.1544T>C) presented with life‐threatening hyperkalemia and hyponatremia unresponsive to steroids. Early genetic testing enabled targeted sodium supplementation and potassium‐binding therapy, normalizing electrolytes and underscoring SCNN1B ...
Zhiping Wang, Lijuan Long, Hongjuan Bi
wiley   +1 more source