Results 131 to 140 of about 214,622 (297)

Colloid Cyst of the Third Ventricle: A Case Report

Acta Medica
Colloid cyst of the third ventricle (CC) represents approximately 1% of intracranial tumours and 20% of intraventricular tumours. CC usually occurs between 20 and 50 years of age. During the first decade of life, it is diagnosed very rarely (1–2%).
Aleš Kopal, Jiří Preis, Leoš Ungermann, Edvard Ehler, Ivana Štětkářová   +4 more
doaj   +1 more source

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

Optimizing Diagnostic Accuracy of Clinical Red Flags in RASopathies

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT RASopathies are a group of genetic disorders caused by pathogenic variants in the RAS‐mitogen‐activated protein kinase (RAS–MAPK) signaling pathway, often presenting with congenital heart defects, craniofacial dysmorphisms, and developmental delays. To assess the diagnostic yield of genetic testing in patients with suspected RASopathies and to
Emanuele Bobbio, Martina Caiazza, Emanuele Monda, Giustina Aruta, Alberto Budillon, Augusto Esposito, Adelaide Fusco, Annapaola Cirillo, Marta Rubino, Immacolata Viscovo, Gioacchino Scarano, Matteo Della Monica, Vincenzo Nigro, Giulio Piluso, Leandro Pecchia, Maria Giovanna Russo, Giuseppe Limongelli   +16 more
wiley   +1 more source

Innovation and the role of the cardiac morphologist [PDF]

, 2009
Aiello, VD, Anderson, RH, Jacobs, JP, Spicer, DE, Yoo, SJ   +4 more
core   +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

Endoscopic ultrasonic resection of calcified tumor of the third ventricle. [PDF]

Neurosurg Focus Video, 2023
Spennato P, Onorini N, Vitulli F, Imperato A, De Martino L, Ruggiero C, Cinalli G.   +6 more
europepmc   +1 more source

35 Individuals With HUWE1‐Related Neurodevelopmental Disorder and Suggested Clinical Evaluations

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT HUWE1 (HECT, UBA, and WWE Domain Containing E3 Ubiquitin Protein Ligase1, OMIM 300697), located at Xp11.22, encodes a ubiquitin ligase that is highly conserved across species. Genetic variants in HUWE1 described in multiple independent studies cause X‐linked intellectual disability, including in the patients identified by Juberg, Marsidi, and ...
Mindy H. Li, Deziree L. Coleman, Kelsey Hogan, Danielle Luz, Lindsay Bhandari, Newell Belnap, Tiffany Busa, Charles Coutton, Klaus Dieterich, Svetlana Gorokhova, Clara Hildebrandt, Rachel Logan, Milena Mariani, Manuela Morleo, Vincenzo Nigro, John Pappas, Rachel Rabin, Kelly Schoch, Angelo Selicorni, Vandana Shashi, Rebecca Spillmann, Jennifer Sullivan, Charlotte Tardy, Samantha A. Schrier Vergano, Brock Grill, Kristin Baranano   +25 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

Endoscope-assisted Trans-lamina Terminalis Resection of Chordoid Glioma at the Third Ventricle: A Case Report. [PDF]

NMC Case Rep J, 2023
Oda Y, Amano K, Chiba K, Masui K, Kawamata T.   +4 more
europepmc   +1 more source

Defining Features of Gabriele‐de Vries Syndrome in Adults: A Case Report and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Gabriele‐de Vries syndrome (GADEVS) is a neurodevelopmental disorder caused by heterozygous pathogenic variants in the YY1 gene. Like most rare genetic syndromes, the adult manifestations of GADEVS remain poorly defined. Here, we describe the oldest patient reported to date with GADEVS—a 63‐year‐old woman with a c.1177_1179del YY1 variant ...
Ethan W. Hollingsworth, Changrui Xiao
wiley   +1 more source