Results 121 to 130 of about 101,862 (299)

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

Homozygous Achondroplasia With Long‐Term Survival: Growth Patterns, Medical Interventions, and Practice Implications

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Homozygous achondroplasia is widely considered perinatal lethal by the medical community. In this case series, we report two children from a single family with longer‐term survival. One child lived for 17 months and the other was 60 months at the time of publication.
Hannah Singerline, Jason Laufman, Kimberly Wallis, Michelle Merrill   +3 more
wiley   +1 more source

Clinical Correlates of High Cervical Fractional Anisotropy in Acute Cervical Spinal Cord Injury [PDF]

, 2015
Objective: Fractional anisotropy (FA) of the high cervical cord (C1-C2), rostral to the injury site, correlates with upper limb function in patients with chronic cervical spinal cord injury (SCI).
Eckardt, Gerald, Kurpad, Shekar N., Schmit, Brian D., Vedantam, Aditya, Wang, Marjorie C.   +4 more
core   +1 more source

Expanding the Evaluation of Skeletal Anomalies in Patients With KBG Syndrome: Recommendations for Clinical Practice

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT KBG syndrome is a rare autosomal dominant neurodevelopmental disorder caused by ANKRD11 haploinsufficiency and is characterized by short stature, distinctive facial features, intellectual disability or developmental delay, congenital anomalies and skeletal anomalies.
Marit van der Leij, Emilie de Groot, Eleonora Orlandini, Willemijn M. Klein, Charlotte W. Ockeloen, Joyce M. Geelen   +5 more
wiley   +1 more source

Metabolic and biochemical profiling reveals phenotypic heterogeneity in Zucker diabetic fatty rats

Animal Models and Experimental Medicine, EarlyView.
Genetically uniform Zucker Diabetic Fatty (ZDF) rats spontaneously develop four distinct metabolic phenotypes despite identical housing and diet conditions. Each phenotype exhibits unique biomarker signatures encompassing glucose homeostasis, insulin secretion, polyol pathway activation, oxidative stress, inflammatory cytokines, and neurotrophic ...
Marek Lepáček, Pavol Boďo, Barbora Kaločayová, Marta Šoltésová Prnová   +3 more
wiley   +1 more source

Neuroprotective Effect of Aqueous Extract of Achillea millifolium Against Retrograde Destruction of Neurons of Ventral Horn of the Spinal Cord After Sciatic Nerve Compression in Rats

Majallah-i Dānishgāh-i ̒Ulūm-i Pizishkī-i Bābul, 2015
BACKGROUND AND OBJECTIVE: damage to peripheral nerves stimulates a series of morphological and biochemical changes in neurons, which are not concentrated only in the injured region, but are also observed in the cell body of neurons of the spinal cord and
A Shahraki, AR Rezazehi
doaj  

SENSORY REGRESSION TIME FROM SUBARACHNOID BLOCK WITH HYPERBARIC 0.75% BUPIVACAINE IN THE OBESE PATIENT [PDF]

, 1989
The purpose of this study was to determine if obese patients have a different sensory regression time from subarachnoid block than non-obese patients using hyperbaric 0.75% bupivacaine. A quasi-experimental design was used. Twenty patients were separated
Hilton, George Leslie
core   +1 more source

Establishment and multifaceted characterization of a graded spinal cord injury model based on graduated impact depth

Animal Models and Experimental Medicine, EarlyView.
We established a graded spinal cord injury (SCI) model based on graduated impact depth, which was subsequently characterized across multiple dimensions, including locomotor function, imaging, histology, and transcriptomic profiles. We further identified transcriptomic changes in graded SCI at different time points postinjury and investigated the ...
Gang Zhou, Yue Hu, Zhimin Li, Shiyuan Han, Yuejia Li, Yongning Li, Jun Gao   +6 more
wiley   +1 more source

A novel mouse model simulating C5 palsy after cervical surgery

Animal Models and Experimental Medicine, EarlyView.
This study establishes a reliable mouse model of permanent C5 palsy (post‐laminectomy complication) via dorsal approach, selectively severing the C5 anterior nerve root while preserving the posterior root through partial C4 and C5 laminectomy. The model successfully replicates clinical C5P features—flaccid shoulder paralysis, electrophysiological ...
Chenpei Xu, Xianghe Wang, Mingjie Zhou, Chuxiang Chen, Tingzheng Jiang, Fei Wang, Kaixiang Yang, Hongli Wang, Su Jiang   +8 more
wiley   +1 more source

3D anatomical atlas of the heads of male and female adult Chamaeleo calyptratus

The Anatomical Record, EarlyView.
The veiled chameleon is a model organism in reptile development research. Utilizing contrast‐enhanced microCT and deep learning segmentation models, we have generated the first digital atlases of the skull, nervous system, cranial muscles and hyolingual muscles.
Alice Leavey, Eloy Gálvez‐López, Anthony Herrel, Laura B. Porro   +3 more
wiley   +1 more source