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Atypical Variants of Spinal Dysraphism: A Case Series.
J West Afr Coll Surg
August 2024
Department of Radiology, University College Hospital and College of Medicine, University of Ibadan, Ibadan, Nigeria.
The aim of this study is to present and discuss atypical instances of spina bifida (SB) within a Nigerian paediatric cohort, highlighting their distinctive clinicoradiological features. Additionally, a brief literature review is provided to contextualise these congenital anomalies. This series comprises eight rare cases of SB managed in a Nigerian neurosurgical facility.
View Article and Find Full Text PDFComparative analysis of arterial involvement in predominant cranial and isolated extracranial phenotypes of giant cell arteritis using F-FDG PET-CT.
Arthritis Res Ther
December 2024
Department of Rheumatology, Hospital Universitario de Bellvitge. Bellvitge Biomedical Research Institute (IDIBELL), Barcelona, Spain.
Objective: To investigate differences in arterial involvement patterns on F-FDG PET-CT between predominant cranial and isolated extracranial phenotypes of giant cell arteritis (GCA).
Methods: A retrospective review of F-FDG PET-CT findings was conducted on 140 patients with confirmed GCA. The patients were divided into two groups: the cranial group, which presented craniofacial ischemic symptoms either at diagnosis or during follow-up, and the isolated extracranial group which never exhibited such manifestations.
Atypical angioid streaks in a patient with a monoallelic mutation.
Ophthalmic Genet
December 2024
Department of Ophthalmology, Bascom Palmer Eye Institute, Miami, Florida, USA.
Background: Pseudoxanthoma elasticum (PXE) is characterized by aberrant calcification of elastic tissues throughout the body causing varying degrees of skin, cardiac, and ocular disease. Although PXE is classically regarded as an autosomal recessive disease, recent reports have demonstrated a haploinsufficiency phenotype, in which carriers of monoallelic ATP-binding cassette transporter () gene mutations demonstrate mild manifestations of PXE. In this case report, we describe a patient with a monoallelic mutation and atypical angioid streaks.
View Article and Find Full Text PDFIntussusception in children with celiac disease.
J Family Med Prim Care
November 2024
Pediatric Department, Jeddah, Saudi Arabia.
Celiac disease (CD) is a chronic illness. Blood testing for tissue transglutaminase antibodies is the initial screening test for the diagnosis of CD, and upper gastrointestinal endoscopy and duodenal/jejunal biopsy are used to confirm CD. Intussusception (IS) is the process in which a proximal segment of the bowel invaginates through the lumen of a distal segment.
View Article and Find Full Text PDFMolecular architectures of centrosomes in C. elegans embryos visualized by cryo-electron tomography.
Dev Cell
December 2024
Structural and Computational Biology Unit, European Molecular Biology Laboratory (EMBL), 69117 Heidelberg, Germany; Cell Biology and Biophysics Unit, EMBL, 69117 Heidelberg, Germany. Electronic address:
Centrosomes organize microtubules that are essential for mitotic divisions in animal cells. They consist of centrioles surrounded by pericentriolar material (PCM). Questions related to mechanisms of centriole assembly, PCM organization, and spindle microtubule formation remain unanswered, partly due to limited availability of molecular-resolution structural data inside cells.
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