Results 41 to 50 of about 57,818 (286)

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

Spinal stenosis subsequent to juvenile lumbar osteochondrosis [PDF]

, 1990
This paper describes eight patients with spinal stenosis associated with marked osteochondrous changes in the vertebral bodies due to juvenile lumbar osteochondrosis (Scheuermann's disease).
Schlenzka, Dietrich, Kaj Tallroth, Tallroth, Kaj, Dietrich Schlenzka   +3 more
core   +1 more source

Association between gut microbiota and spinal stenosis: a two-sample mendelian randomization study

Frontiers in Immunology
IntroductionConsiderable evidence has unveiled a potential correlation between gut microbiota and spinal degenerative diseases. However, only limited studies have reported the direct association between gut microbiota and spinal stenosis.
Jian Li, Jinpeng Wei, Jiani Wang, Tao Xu, Baofeng Wu, Shuhan Yang, Shaoze Jing, Hua Wu, Haihu Hao   +8 more
doaj   +1 more source

Validity of MRI Measurements in Lumbar Spinal Canal Stenosis

The Iraqi Journal of Medical Sciences, 2019
Background:Lumbar spinal canal stenosis results from compression of spinal cord and/or nerves at any level of lumbar vertebra. The relationship between clinical features of the patients and the degree of stenosis is not clear and there is no ...
Hayder Al-Jaberi, Bishree Shakir, Anees Hjazeen   +2 more
doaj   +1 more source

Spectrum of Congenital Anomalies in Myhre Syndrome—Insights Into Effects Brought by Altered TGF‐β Signaling via Gain‐of‐Function Variants in SMAD4

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is a rare genetic disorder characterized by progressive multisystem involvement. Gain‐of‐function missense heterozygous variants affecting the Ile500 residue and Arg496 residue of the SMAD4 gene are implicated in this condition.
Kawmadi Gunawardena, Alessandro De Falco, Deborah Osio, Eleanor Sherlock, Emma Kivuva, Erina Sasaki, Francis H. Sansbury, Nayana Lahiri, Patricia Foley, Sahar Mansour, Shane McKee, Tazeen Ashraf, Nicola Brunetti‐Pierri, Usha Kini   +13 more
wiley   +1 more source

Could spinal canal compression be a cause of polyneuropathy?

Clinics and Practice, 2016
Causality between spinal cord compression and polyneuropathy is difficult to define, especially under the circumstances that polyneuropathy can have many causes. Seven patients with spinal cord compression and electrophysiological signs of polyneuropathy
Richard Bostelmann, Samis Zella, Hans Jakob Steiger, Athanasios K. Petridis   +3 more
doaj   +1 more source

Effect of the preoperative assessment of the anteroposterior diameters of the spinal canal and dural area on the efficacy of oblique lumbar interbody fusion in patients with lumbar spinal stenosis

Journal of Orthopaedic Surgery and Research, 2023
Objective The purpose of this study was to quantify the degree of lumbar spinal stenosis by assessing the anterior and posterior vertebral canal diameter and dural area, determine the sensitivity of the anterior and posterior spinal canal diameter, dural
Zhe Lu, Aoran Ding, Qingsong Yu, Haidong Wang, Lei Ma   +4 more
doaj   +1 more source

A Novel Splice Variant in ERGIC1 Causes Arthrogryposis Multiplex Congenita—Characterization Using Urine‐Derived Cells

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis multiplex congenita (AMC) is defined as the presence of joint contractures affecting at least two body regions at birth. Three different ERGIC1 variants have been reported in individuals with AMC. Here, we report on a 16‐year‐old male with a homozygous ERGIC1 c.250+1G>A variant that was classified as a variant of uncertain ...
Lauren Kerr, Paul McKay, Juliana Marulanda, Zenghui Wu, Reggie Hamdy, Sena Tavukcu, Noémi Dahan‐Oliel, Frank Rauch   +7 more
wiley   +1 more source

2D vs. 3D pain visualization: User preferences in a spinal cord injury cohort

, 2011
This is the post-print version of the Article. The official published version can be accessed from the link below - Copyright @ 2011 Springer VerlagResearch on pain experienced after Spinal Cord Injury (SCI) has revealed that not only are there several ...
Spyridonis, F, Ghinea, G, Gheorghita Ghinea, Fotios Spyridonis   +3 more
core   +1 more source

Co‐Occurring Non‐Cardiac Congenital Anomalies Among Cases With Congenital Heart Defects

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cases with congenital heart defects (CHD) often have other associated anomalies. The aim of this investigation was to assess the prevalence and the types of co‐occurring anomalies in CHD in a well‐defined population. The anomalies co‐occurring with CHD were ascertained in all live births, stillbirths and terminations of pregnancy for fetal ...
Claude Stoll, Yves Alembik, Marie‐Paule Roth   +2 more
wiley   +1 more source