Results 41 to 50 of about 48,007 (304)

Life threatening spinal shock and complete neurological recovery following minor spinal cord trauma in a patient with pre-existing cervical canal stenosis: case report [PDF]

, 2009
Mild to moderate trauma to the spinal cord that is complicated by existing cervical canal stenosis or spondylosis can be a life threatening event.
Bugo, John, Mung’ayi, Vitalis, Qureshi, Mahmood   +2 more
core   +3 more sources

Differentiating the Clinical and Variant Spectrum of Hardikar Syndrome From Other MED12‐Related Developmental Disorders

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The rare X‐linked female‐restricted Hardikar syndrome (HDKR, OMIM # 301068) is characterized by multiple congenital anomalies including orofacial clefts, gastrointestinal, genitourinary, and cardiac anomalies, but cognitive and neurobehavioral development is rarely impaired.
Tinne Warmoeskerken, Miel Theunis, Kris Van den Bogaert, Koenraad Devriendt, Jeroen Breckpot   +4 more
wiley   +1 more source

Three-dimensional simulation of the lumbar spine under lumbar spinal stenosis with different sizes of spinal canal

Partial Differential Equations in Applied Mathematics
In this paper, we investigate the effect of body weight on the lumbar spine with different spinal canal sizes when humans bend down by using the finite element method. Lumbar spinal stenosis is the narrowing of the spinal canal.
Din Prathumwan, Inthira Chaiya, Kamonchat Trachoo   +2 more
doaj   +1 more source

De Novo Complex Genomic Rearrangement Spanning 2q31.1 in a Proband With Congenital Malformations: Genotype–Phenotype Correlation and Development of a CGR Detection Pipeline

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The 2q31 region is commonly associated with pathogenic alleles of the HOXD cluster leading to various clinical phenotypes related to skeletal development. We present a proband with tetralogy of Fallot and multiple congenital anomalies. Genomic variant screening including an in‐house CGR detection pipeline pairing genome sequencing (GS ...
Katherine Helle, Jesse D. Bengtsson, Mira Gandhi, Christopher M. Grochowski, Ming Yin Lun, Neha Sudhir, Shalini N. Jhangiani, Fritz J. Sedlazeck, Seema R. Lalani, Neil A. Hanchard, Claudia M. B. Carvalho   +10 more
wiley   +1 more source

Cube-Cut: Vertebral Body Segmentation in MRI-Data through Cubic-Shaped Divergences [PDF]

, 2014
In this article, we present a graph-based method using a cubic template for volumetric segmentation of vertebrae in magnetic resonance imaging (MRI) acquisitions.
Egger, Jan, Freisleben, Bernd, Nimsky, Christopher, Schwarzenberg, Robert   +3 more
core   +5 more sources

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

Asymptomatic stenosis in the cervical and thoracic spines of patients with symptomatic lumbar stenosis [PDF]

, 2015
Study Design Retrospective study. Objective Studies on age-related degenerative changes causing concurrent stenoses in the cervical, thoracic, and lumbar spines (triple stenosis) are rare in the literature.
Kim, Tae-Hwan, Lee, Jae-Hoo, Lyu, Ho D, Moon, Seong-Hwan, Oh, Jae K, Park, Moon S, Riew, K. Daniel   +6 more
core   +2 more sources

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 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

Clinical and Radiological Characteristics of Cervical Spondylotic Myelopathy in Young Adults: A Retrospective Case Series of Patients under Age 30

Medicina, 2023
Background and Objectives: Cervical spondylotic myelopathy (CSM) is a degenerative disease and occurs more frequently with age. In fact, the development of non-herniated CSM under age 30 is uncommon. Therefore, a retrospective case series was designed to
Yoshiki Terashima, Takashi Yurube, Masatoshi Sumi, Aritetsu Kanemura, Koki Uno, Kenichiro Kakutani   +5 more
doaj   +1 more source