Results 61 to 70 of about 791,870 (310)

Congenital Chagas Disease in the United States: Cost Savings Through Maternal Screening [PDF]

, 2018
Chagas disease, caused by Trypanosoma cruzi, is transmitted by insect vectors through transfusions, transplants, insect feces in food, and from mother to child during gestation.
Bialek, Stephanie R., Montgomery, Susan P., Perez-Zetune, Victoria, Stillwaggon, Eileen   +3 more
core   +2 more sources

Epilepsy‐Associated Variants of a Single SCN1A Codon Exhibit Divergent Functional Properties

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Pathogenic variants in SCN1A, which encodes the voltage‐gated sodium channel NaV1.1, are associated with multiple epilepsy syndromes exhibiting a range of clinical severity. SCN1A variants are reported in different syndromes, including Dravet syndrome, which is associated with loss‐of‐function, whereas neonatal/infantile‐onset ...
Lanie N. Liebovitz, Christopher H. Thompson, Linda C. Laux, Alfred L. George Jr.   +3 more
wiley   +1 more source

Analysis of Genotypes and Phenotypes in Chinese Patients With Tuberous Sclerosis Complex Harboring Novel Variants of TSC1 and TSC2 Genes

International Journal of Genomics
Conclusions: This study broadens the spectrum of variants of TSC1 and TSC2 genes, reaffirming the clinical diagnosis of patients through genetic testing.
Jian Chen, Hairui Sun, Ling Han, Xiaoyan Gu, Xiaoyan Hao, Yuwei Fu, Zongjie Weng, Yi Xiong, Baomin Liu, Hongjia Zhang, Yihua He, Hong Li   +11 more
doaj   +1 more source

Retraction: Bruder, L. et al. Transcatheter Decellularized Tissue-Engineered Heart Valve (dTEHV) Grown on Polyglycolic Acid (PGA) Scaffold Coated with P4HB Shows Improved Functionality over 52 Weeks due to Polyether-Ether-Ketone (PEEK) Insert. J. Funct. Biomater. 2018, 9(4), 64

Journal of Functional Biomaterials, 2019
Due to human error, the authors included some of the experimental data in this article [...]
Leon Bruder, Kerstin Brakmann, Valentin Stegner, Matthias Sigler, Felix Berger, Boris Schmitt   +5 more
doaj   +1 more source

Integrated control of chagas disease for its elimination as public health problem: A review [PDF]

, 2015
Chagas disease or American trypanosomiasis is, together with geohelminths, the neglected disease that causes more loss of years of healthy life due to disability in Latin America.
Segura, Elsa Leonor, Sosa-Estani, Sergio Alejandro   +1 more
core   +4 more sources

Sertraline Treatment Can Mimic Niemann‐Pick Type C Biomarker Profile: A Diagnostic Pitfall

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Oxysterols (cholestane‐3β,5α,6β‐triol and 7‐ketocholesterol) and N‐palmitoyl‐O‐phosphocholineserine (PPCS) are sensitive biomarkers for Niemann‐Pick disease type C (NPC) screening. However, false‐positive results occur, with a biomarker profile suggestive of NPC despite the absence of pathogenic variants in genes involved in NPC or ...
Maria Makrygianni, Cecile Pagan, Antony Citterio‐Quentin, Isabelle Rouvet, Giulia Dingeo, Cyril Hanin, Claudine Laurent‐Levinson, Samia Pichard, Bénédicte Héron, Clément Gourguechon, Daniele Mandia, Jerome Guitton, Carole Lacout, Nicolas Schleinitz, Florient Potier, Olivier Flabeau, Elsa Besse‐Pinot, Foudil Lamari, Magali Pettazzoni, Yann Nadjar   +19 more
wiley   +1 more source

Total anomalous pulmonary vein drainage in a 60-year-old woman diagnosed in an ECG-gated multidetector computed tomography : a case report and review of literature [PDF]

, 2018
Purpose: Total anomalous pulmonary vein drainage (TAPVD) is a congenital cardiac defect in which there is no connection between pulmonary veins and the left atrium.
Adamczyk, Piotr, Czekajska-Chehab, Elżbieta, Drop, Andrzej, Siek, Elżbieta, Staśkiewicz, Grzegorz, Tomaszewski, Andrzej, Wojtkowska, Agnieszka, Zakościelna, Magdalena   +7 more
core   +1 more source

Recurrent Hypothermia and Autonomic Dysfunction Secondary to Shapiro Syndrome

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT A 44‐year‐old man presented with recurrent hypothermia, diaphoresis and hypertension. Extensive investigation for infectious, inflammatory, metabolic and endocrine aetiologies was negative. MR scan of the brain demonstrated no lesions but revealed callosal dysgenesis, consistent with Shapiro syndrome.
Naveen Kumar, Jeremy Johnson, Susanne Watkins, Eoin Mulroy   +3 more
wiley   +1 more source

Utility of deep learning networks for the generation of artificial cardiac magnetic resonance images in congenital heart disease

BMC Medical Imaging, 2020
Background Deep learning algorithms are increasingly used for automatic medical imaging analysis and cardiac chamber segmentation. Especially in congenital heart disease, obtaining a sufficient number of training images and data anonymity issues remain ...
Gerhard-Paul Diller, Julius Vahle, Robert Radke, Maria Luisa Benesch Vidal, Alicia Jeanette Fischer, Ulrike M. M. Bauer, Samir Sarikouch, Felix Berger, Philipp Beerbaum, Helmut Baumgartner, Stefan Orwat, for the German Competence Network for Congenital Heart Defects Investigators   +11 more
doaj   +1 more source

Transcatheter mitral valve replacement for degenerated mitral valve bioprostheses, failure of mitral valvuloplasty and native valve with severe mitral annulus calcification: a systematic review and meta-analysis

Journal of Cardiothoracic Surgery, 2021
Background Although transcatheter technology has achieved some success in the field of mitral valves, the feasibility of applying it to patients with degenerated mitral valve bioprostheses (valve-in-valve, ViV), failure of mitral valvuloplasty (valve-in ...
Tao You, Wei Wang, Kang Yi, Jie Gao, Xin Zhang, Shao-E. He, Xiao-Min Xu, Yu-Hu Ma, Xin-Yao Li   +8 more
doaj   +1 more source