Results 81 to 90 of about 1,004,558 (395)
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Noonan Syndrome (NS) is a clinically and genetically heterogeneous condition characterized by typical facial dysmorphisms, short stature, congenital heart defects, and developmental delays. While variants in genes such as PTPN11, SOS1, and RAF1 account for most genetically confirmed cases, diagnosis is challenging due to phenotypic overlap ...
Gabriela Jeesoo Kim +9 more
wiley +1 more source
Case Reports in Orthopedics, 2018 We describe a case of lumbar stenosis in which retrospective spectral analysis using dual-layer spectral detector computed tomography (CT) had the ability to expand the evaluable region in the spinal canal.
Yuji Iyama +4 more
doaj +1 more source
Journal of Orthopaedic Surgery and Research, 2023 Purpose The purpose of the study was to evaluate the efficacy of OLIF combined with pedicle screw internal fixation in the treatment of lumbar spinal stenosis by assessing the changes in spinal canal before and after surgery.
Wangbing Xu +5 more
doaj +1 more source
Abnormal motoneuron migration, differentiation, and axon outgrowth in spinal muscular atrophy [PDF]
, 2008 The role of heterotopic (migratory) motoneurons (HMN) in the pathogenesis of spinal muscular atrophy (SMA) is still controversial. We examined the occurrence and amount of HMN in spinal cord tissue from eight children with SMA (six with SMA-I and two ...
Barišić, Nina +10 more
core +1 more source
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 +3 more
wiley +1 more source
Changes in Spinal Canal Diameter and Vertebral Body Height with Age
Yonsei medical journal, 2013 Purpose All structures of the spine, including the spinal canal, change continuously with age. The purpose of this study was to determine how the spinal canal of the lumbar spine changes with age.
K. Kim +5 more
semanticscholar +1 more source
Annals of Neurology, EarlyView.Objective Mutations in TARDBP (encoding TDP‐43) are associated with the neurodegenerative disease amyotrophic lateral sclerosis (ALS) and include familial missense mutations where there are a lack of models and mechanisms examining how they are pathogenic.
Ziyaan A. Harji +10 more
wiley +1 more source
Developmental Lumbar Spinal Canal Stenosis and Severity of Radiculopathy
The Annals of African Surgery, 2019 Background: The severity of radiculopathy is varied and may not concur with MRI findings. Large disc bulges may elicit fewer symptoms than smaller bulges. This was postulated to be due to the size of the canal.
Muthuuri Jamlick
doaj
Arquivos de Neuro-Psiquiatria, 2005 In most series of neoplasms of the spinal canal, spinal cord and its leptomeninges, the incidence of meningioma group comprises approximately 25%. The incidence of multiple meningiomas is small when compared with the frequency of its single occurrence ...
José Alberto Gonçalves da Silva +3 more
doaj +1 more source
Early synapsids neurosensory diversity revealed by CT and synchrotron scanning
The Anatomical Record, EarlyView.Abstract Non‐mammaliaform synapsids (NMS) represent the closest relatives of today's mammals among the early amniotes. Exploring their brain and nervous system is key to understanding how mammals evolved. Here, using CT and Synchrotron scanning, we document for the first time three extreme cases of neurosensory and behavioral adaptations that probe ...
J. Benoit +6 more
wiley +1 more source