Results 71 to 80 of about 27,985,166 (210)

Pericerebral spaces as diagnostic signposts in fetal central nervous system pathologies

Ultrasound in Obstetrics &Gynecology, EarlyView.
L. Guibaud, S. Cabet
wiley   +1 more source

Uncovering the Genetic Landscape of Pediatric Hearing Loss Along the Texas–Mexico Border

Clinical Genetics, Volume 110, Issue 5, Page 627-636, November 2026.
Project GIVE provided evaluations and genome sequencing to 23 children with hearing loss along the Texas–Mexico border. Seventy percent received a molecular diagnosis and 56% of those diagnosed had changes to medical management. In this region, underdiagnosis of genetic hearing loss is due to care barriers rather than lower genetic burden.
Desiree Lanehart, Michelle Gray, Roberta Sierra, Camille Maldonado, Daniel Brooks, Hongzheng Dai, Aaly Rahimtoola, Sandy Magallan, Sarah Rodriguez, Jose Gamez, Pattie Rosenlund, Surya N. Mulukutla, Alberto Allegre, Lori Berry, Brendan Lee, Daryl A. Scott, Blake Vuocolo, Seema R. Lalani   +17 more
wiley   +1 more source

A less invasive suboccipital decompression-cranioplasty for Chiari type I malformation: Is it beneficial?

Interdisciplinary Neurosurgery, 2018
This was a retrospective study of 10 Chiari Malformation type I patients who were treated by the author since 2010–2016. This study aims to elucidate the benefit of modified foramen magnum decompression by preserving the bone as propose upside down ...
G.B. Mahadewa Tjokorda, G.A. Senapathi Tjokorda   +1 more
doaj   +1 more source

Task-specific and general cognitive effects in Chiari malformation type I. [PDF]

PLoS ONE, 2014
OBJECTIVE: Our objective was to use episodic memory and executive function tests to determine whether or not Chiari Malformation Type I (CM) patients experience cognitive dysfunction.
Philip A Allen, James R Houston, Joshua W Pollock, Christopher Buzzelli, Xuan Li, A Katherine Harrington, Bryn A Martin, Francis Loth, Mei-Ching Lien, Jahangir Maleki, Mark G Luciano   +10 more
doaj   +1 more source

The Lupus Damage Index Revision Program: Results From the Item Generation and Reduction Phases

Arthritis Care &Research, Volume 78, Issue 10, Page 1449-1466, October 2026.
Objective A data‐driven and expert/patient consensus‐based project to develop a revised Systemic Lupus International Collaborating Clinics (SLICC)/American College of Rheumatology (ACR) Damage Index (SDI) is under way supported by SLICC, ACR, and the Lupus Foundation of America. Our objective is to report the item generation and reduction phase results
Burak Kundakci, Megan R. W. Barber, Ann E. Clarke, Sindhu R. Johnson, Anselm Mak, Hermine I. Brunner, Murat Inanc, Rosalind Ramsey‐Goldman, Guillermo Ruiz‐Irastorza, Ellen M. Ginzler, John G. Hanly, Alexandra Legge, Cynthia Aranow, Laurent Arnaud, Nathalie Costedoat‐Chalumeau, Dafna D. Gladman, Søren Jacobsen, Michelle Petri, Clovis A. Silva, Évelyne Vinet, Alexandre E. Voskuyl, SDI Revision Literature Review Groups, SDI Revision Delphi Panel, SDI Revision Item Reduction Committee, SDI Revision Clinical Domain Groups, Ian N. Bruce   +25 more
wiley   +1 more source

Symptomatic Chiari I malformation in Kabuki syndrome

, 2005
Kabuki (Niikawa-Kuroki) syndrome is associated with a characteristic facial appearance, cleft palate, congenital heart defects, and developmental delay. Structural brain anomalies have only occasionally been described in Kabuki syndrome.
Donnai, Dian, Ciprero, Karen L., Zackai, Elaine H., Ming, Jeffrey E., Karen L. Ciprero, Jill Clayton‐Smith, Jeffrey E. Ming, Elaine H. Zackai, Clayton-Smith, Jill, Robert A. Zimmerman, Dian Donnai, Zimmerman, Robert A.   +11 more
core   +1 more source

A frontal lobe mass in a 6‐year‐old girl

Brain Pathology, EarlyView.
Francesca S. Vacca, Aaron Mochizuki, Smruti K. Patel, Blaise Jones, Somak Roy, Kirti Gupta   +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, Volume 200, Issue 10, Page 2331-2337, October 2026.
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

Combined Spinal-Epidural Analgesia for Laboring Parturient with Arnold-Chiari Type I Malformation: A Case Report and a Review of the Literature

Case Reports in Anesthesiology, 2013
Anesthetic management of laboring parturients with Arnold-Chiari type I malformation poses a difficult challenge for the anesthesiologist. The increase in intracranial pressure during uterine contractions, coughing, valsalva maneuvers, and expulsion of ...
Clark K. Choi, Kalpana Tyagaraj
doaj   +1 more source

Chiari Malformation Type 1 in

, 2019
A syndrome of multiple paragangliomas/pheochromocytomas, somatostatinoma, and polycythemia due to somatic mosaic gain-of-function mutation of EPAS1, encoding HIF-2α, was previously described.
Pang, Ying, Gonzales, Melissa K, James G. Smirniotopoulos, Jared S. Rosenblum, Rosenblum, Jared S, Lechan, Ronald M, Heiss, John D, Nazari, Matthew A, Pacak, Karel, Karel Pacak, Dominic Maggio, Melissa K. Gonzales, John D. Heiss, Ronald M. Lechan, Matthew A. Nazari, Maggio, Dominic, Zhuang, Zhengping, Smirniotopoulos, James G, Zhengping Zhuang, Ying Pang   +19 more
core   +1 more source