Results 51 to 60 of about 87,347 (355)

A Population‐Based Study of Limb Body Wall Complex With Proposed Features for Prenatal Diagnosis

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Limb body wall complex (LBWC) is a lethal condition comprising major congenital anomalies. Although currently diagnosed in the early prenatal period, historical diagnostic criteria are based on detailed pathological assessments. Prenatal and postnatal findings of LBWC and their phenotypic overlap with body stalk anomaly (BSA) and recurrent ...
Mary Ann Thomas, Susan Crawford, Tanya Bedard   +2 more
wiley   +1 more source

Cervical Spinal Cord Injury in Patients with Cervical Canal Stenosis without Radiologic Evidence of Trauma: Evaluation of 15 Consecutive Cases

Bagcilar Medical Bulletin, 2017
Objective: Cervical spinal canal stenosis is a well-known risk factor for spinal cord injury. In some patients, spinal cord injury is the first symptom of spinal stenosis.
Burak Eren, Azmi Tufan, Eyup Cetin, Feyza Karagoz Guzey, Ozgur Yusuf Aktas, Abdurrahim Tas, Ebru Doruk, Ilker Gulec, Mustafa Safi Vatansever   +8 more
doaj   +1 more source

Neuroaxonal Dystrophy With Osteopetrosis Associated With a Novel Biallelic Nonsense Homozygous Variant in BORCS5

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Neuroaxonal dystrophy (NAD) with osteopetrosis syndrome (OMIM # 600329) was first reported in a consanguineous Moroccan Jewish family. However, to date, no genetic variant has been linked to this disease. We report on sibs, born to consanguineous Pakistani parents identified prenatally with cerebral ventriculomegaly and agenesis of the corpus ...
Yael Fisher, Orli Greenberg, Patrick Shannon, Andrea Staines, Bobbi McGivern, Melanie Patricia Napier, David Chitayat   +6 more
wiley   +1 more source

Further Evidence That Chondrocalcinosis 1 (CCAL1) is a Confirmed Mendelian Phenotype With a Known Molecular Basis

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Chondrocalcinosis (CCAL), also known as calcium pyrophosphate dihydrate deposition disease (CPPDD), is a frequent multifactorial condition in the elderly, but there are two rare autosomal dominant Mendelian forms, CCAL1 (OMIM %600668) and CCAL2. Only three families with molecularly proven CCAL1 have been reported.
Anna‐Christina Pansa, Mareike Selig, Markus Wingendorf, Matthew A. Brown, Oliver Bartsch   +4 more
wiley   +1 more source

Computer-assisted radiographic calculation of spinal curvature in brachycephalic "screw-Tailed" dog breeds with congenital thoracic vertebral malformations: reliability and clinical evaluation [PDF]

, 2014
The objectives of this study were: To investigate computer-assisted digital radiographic measurement of Cobb angles in dogs with congenital thoracic vertebral malformations, to determine its intra- and inter-observer reliability and its association with ...
Faller, Kiterie, Guevar, Julien, Gutierrez Quintana, Rodrigo, Penderis, Jacques, Stalin, Catherine, Yeamans, Carmen   +5 more
core   +9 more sources

Percutaneous transforaminal full endoscopic decompression for the treatment of lumbar spinal stenosis

BMC Musculoskeletal Disorders, 2020
Background One advantage of an endoscopic approach to treating lumbar spinal stenosis is preservation of spine stability and the adjacent anatomy, and there is a decrease in adjacent segment disc degeneration. The purpose of this study was to discuss the
Peigen Xie, Feng Feng, Zihao Chen, Lei He, Bu Yang, Ruiqiang Chen, Wenbin Wu, Bin Liu, Jianwen Dong, Tao Shu, Liangming Zhang, Chien-Min Chen, Limin Rong   +12 more
doaj   +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

Clinical evaluative value of cervical magnetic resonance T2 axial image in the severity of cervical canal stenosis

Zhongguo linchuang yanjiu
Objective To explore the clinical value of cervical magnetic resonance T2 axial image in evaluating thedegree of cervical canal stenosis，in order to guide precise clinical diagnosis and treatment.
FEI Changjun*，CHEN Bing，XIA Shiyong，ZHANG Xiaoyong，XIA Yiqiu，LI Hongxia
doaj   +1 more source

Total body bone mineral density and various spinal disorders: a Mendelian randomization study

Frontiers in Endocrinology, 2023
IntroductionObservational studies have yielded inconsistent findings regarding the correlation between bone mineral density (BMD) and various spinal disorders.
Qingyu Jiang, Qingyu Jiang, Haihao Gao, Haihao Gao, Xudong Shi, Yan Wu, Wentao Ni, Aijia Shang   +7 more
doaj   +1 more source

Monro-Kellie 2.0: The dynamic vascular and venous pathophysiological components of intracranial pressure [PDF]

, 2016
For 200 years, the ‘closed box’ analogy of intracranial pressure (ICP) has underpinned neurosurgery and neuro-critical care. Cushing conceptualised the Monro-Kellie doctrine stating that a change in blood, brain or CSF volume resulted in reciprocal ...
Wilson, MH
core   +1 more source