Results 81 to 90 of about 617,988 (345)

Expanding the Clinical Spectrum of Cousin Syndrome: A Novel Biallelic Missense Variant in TBX15 Causing a Milder Phenotype

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cousin syndrome is a rare skeletal dysplasia characterized by distinctive facial features, humeroradial synostosis, and hypoplasia of the ilia and scapula. Since the original description of the phenotype in two cases by Cousin in 1982, only three additional cases have been published.
Suzanne E. L. Detiger, Martijn V. Verhagen, Tuula Rinne, Hermine E. Veenstra‐Knol   +3 more
wiley   +1 more source

Therapeutic lumbar puncture for headache in idiopathic intracranial hypertension: Minimal gain, is it worth the pain?

Cephalalgia, 2018
Background Headache is disabling and prevalent in idiopathic intracranial hypertension. Therapeutic lumbar punctures may be considered to manage headache. This study evaluated the acute effect of lumbar punctures on headache severity.
A. Yiangou, J. Mitchell, K. Markey, W. Scotton, P. Nightingale, H. Botfield, R. Ottridge, S. Mollan, A. Sinclair   +8 more
semanticscholar   +1 more source

Basal Metabolic Requirements, Biomarkers of Cardiometabolic Health, and Anthropometric Measures of Obesity in Women and Men With Restricted Growth Conditions

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Population‐specific thresholds have not been defined for the levels of adiposity and systemic biomarkers that predict chronic health risks in people with restricted growth conditions. Here, anthropometric measures of adiposity, basal metabolic requirements, and fasted blood samples were obtained from adults with restricted growth (age 41 ± 14 ...
Lucy H. Merrell, Harry A. Smith, Harriet A. Carroll, Yung‐Chih Chen, Dylan Thompson, Javier T. Gonzalez, Greg Atkinson, James A. Betts   +7 more
wiley   +1 more source

Sacroiliac Joint Involvement: An Underreported Complication of NF1

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT NF1‐related bone dysplasia in children and young adults with neurofibromatosis type 1 (NF1) involving the sacroiliac joint has been rarely described. We report four participants who underwent whole‐body magnetic resonance imaging (WB‐MRI) as part of a longitudinal imaging and plexiform neurofibroma (PN) biomarker study (NCT05238909) at Ann ...
Jenny P. Garzon, Eva Dombi, Jonathan Samet, Maria P. Silva, Carolyn R. Raski, Michael Sawin, Carlos E. Prada   +6 more
wiley   +1 more source

Lumbar Discectomy for Lumbar Disc Herniation [PDF]

Orthopaedic Surgery, 2014
Peng Cao, Lei Liang, Huajiang Chen, Jianxi Wang, Changgui Shi, Wen Yuan   +5 more
openaire   +3 more sources

The Head Circumference Height Index (HCH‐I) to Quantify Relative Macrocephaly and Aid Identification of Hypochondroplasia in Children

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Hypochondroplasia (HCH) is a rare skeletal dysplasia caused by pathogenic variants in the FGFR3 gene. We hypothesized that the relative disproportion between head circumference and height in HCH might be diagnostically informative and generated a simple index of head‐stature disproportion to help pediatricians diagnose HCH.
Moira S. Cheung, Ruggero Lanzafame, Karen J. Low, Tim J. Cole   +3 more
wiley   +1 more source

Lumbar puncture [PDF]

Emergency Medicine Australasia, 2014
Ben Butson, Paul Kwa
openaire   +3 more sources

A Confirmatory Case of Severe Spondylocostal Dysostosis Caused by Biallelic Loss‐of‐Function of DMRT2

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Spondylocostal dysostosis (SCDO) is a rare genetic disorder characterized by abnormal development of the axial skeleton, resulting in malformations of the vertebrae and ribs that often impair lung development and lead to significant respiratory morbidity.
Jonathan Rips, Hagar Mor‐Shaked, Oded Shamriz, Raz Somech, Rawan Abu Omar, Smadar Eventov‐Friedman, Noa Ofek‐Shlomai, Dvorah Zaguer, Tamar Harel   +8 more
wiley   +1 more source

Comparison of postoperative complications and outcomes following primary versus revision discectomy: A national database analysis

Journal of Craniovertebral Junction and Spine
Background: Lumbar microdiscectomy is a surgical procedure that is frequently used in the treatment of symptomatic lumbar herniation. Differences in outcomes following primary and revision lumbar microdiscectomy have been previously studied, with reports
Ryan Hoang, Junho Song, Justin Tiao, Sarah Trent, Alex Ngan, Timothy Hoang, Jun S. Kim, Samuel K. Cho, Andrew C. Hecht, David Essig, Sohrab Virk, Austen D. Katz   +11 more
doaj   +1 more source

Complications in Endoscopic Sinus Surgery: A TriNetX Network Analysis

International Forum of Allergy &Rhinology, EarlyView.
Abstract Background The potential complications of endoscopic sinus surgery (ESS) remain a critical surgical consideration. This study aims to examine complication rates and identify trends in ESS‐related complications. Methods The TriNetX network was queried for patients undergoing ESS between 2005 and 2024.
Jakob L. Fischer, Tyler J. Gallagher, Matthew E. Lin, Ian Kim, Bozena B. Wrobel, Daniel M. Beswick, Jivianne T. Lee, Marilene B. Wang, Jeffrey D. Suh   +8 more
wiley   +1 more source