Results 211 to 220 of about 260,960 (312)

Pathogenic PF4/Polyanion ELISA‐Negative Antibodies in HIT

American Journal of Hematology, EarlyView.
ABSTRACT Background Platelet factor 4‐polyanion enzyme‐linked immunosorbent assays (ELISAs) are considered highly sensitive for diagnosing heparin‐induced thrombocytopenia (HIT), such that current practice guidelines recommend use of ELISA‐negative results to exclude HIT.
Adam J. Kanack, Noah P. Splinter, Emily E. Mauch, Leben Tefera, Morayma Reyes Gil, Sakshi Jasra, Andrew Goodwin, Kristi J. Smock, Hadiyah Ahmad, Aneel Ashrani, Nathaniel L. Robinson, Ana I. Casanegra, Curtis G. Jones, Shannon M. Pechauer, Erin Yttre, Richard H. Aster, Mindy C. Kohlhagen, Rachel R. Leger, Gretchen Johns, David L. Murray, Lu Zhou, Demin Wang, Renren Wen, Dong Chen, Rajiv K. Pruthi, Anand Padmanabhan   +25 more
wiley   +1 more source

The Novel ACTC1 p.Gly50Ser Variant Is Associated With Arrhythmia and Secondary Features of HCM Without Hypertrophy

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The key diagnostic criterion for hypertrophic cardiomyopathy is the presence of otherwise unexplained hypertrophy. Current definitions of HCM rely on specific thresholds to establish a diagnosis, while guideline directed risk stratification algorithms take its magnitude into consideration.
Thomas D. Gossios, Dimitrios Ntelios, Thomas Zegkos, Despoina Parcharidou, Pavlos Rouskas, Sotirios Katranas, Ioannis Papoulidis, Vlasis Ninios, Antonios Ziakas, Georgios K. Efthimiadis   +9 more
wiley   +1 more source

Transcatheter Tricuspid Valve Replacement in Rheumatic Tricuspid Valve Regurgitation. [PDF]

JACC Case Rep
Yang J, Tang GHL, Lerakis S, Onishi T, Kini AS, Khera S, Safi LM.   +6 more
europepmc   +1 more source

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

Sutureless aortic valve replacement in Takayasu arteritis: A case report. [PDF]

JTCVS Tech
Bungo M, Uemura H, Sakashita Y, Teshima Y, Watanabe KI, Yamamura M, Sakaguchi T.   +6 more
europepmc   +1 more source

Replacement of Heart Valves [PDF]

BMJ, 1965
openaire   +2 more sources

The Critical Role of Fractionated Urine Glycosaminoglycans in the Evaluation of Mucopolysaccharidosis Type II in Four Unrelated Families

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Since 2015, Ann and Robert H. Lurie Children's Hospital has performed diagnostic testing for infants who screen positive for mucopolysaccharidosis type II (MPS II) on the Illinois newborn screen. Preliminary diagnostic testing includes measurement of plasma iduronate‐2‐sulfatase enzyme activity and urinary glycosaminoglycan analysis, followed ...
Carly A. Rasmussen, Monika Izdebski, Allison Paltzer, Rachel Hickey, Laura Pollard, Joshua Baker   +5 more
wiley   +1 more source

The Homozygous p.(Arg215Ter) Variant in XRCC2 Is Associated With Atypical Fanconi Anemia Without Major Hematological Abnormalities in Childhood

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Fanconi Anemia (FA) is the most frequent inherited bone marrow failure syndrome. A role for the XRCC2 gene in FA was suspected in 2012 and confirmed in 2016, but only two affected individuals have been described thus far, and no long‐term follow‐up is available.
Sabina Cenciarelli, Giulia Bruna Marchetti, Maria Iascone, Maria Grazia Patricelli, Sara Giangiobbe, Gabriella Cinzia Pozzobon, Miriam Nella Savini, Fabio Giglio, Alessandro Aiuti, Paola Carrera, Francesca Ferrua, Angela Peron   +11 more
wiley   +1 more source

Prosthesis-Patient Mismatch Following Aortic Valve Replacement-A Comprehensive Review. [PDF]

J Clin Med
Talapaneni S, Ahmad D, Khandelwal M, Mesiha M, Jalali P, Celik NB, Tabraiz SA, Dankwa S, Hameed I, Milewski R, Vallabhajosyula P.   +10 more
europepmc   +1 more source