Morphological characteristics of 108 cases of uni- and bilateral aplasia of the vertebral artery (VA) in reports or images of retrospective studies, including one recent case, published between 1967 and 2016 are analyzed. Incidence, gender, persistence of carotid-vertebrobasilar anastomosis (CVBA), associated with other vascular variants, and vascular pathology in each group of uni- and bilateral VA aplasia are mutually compared. Most of the cases of VA aplasia in ages 31 to 80 were discovered in USA, Japan, and India. The bilateral VA aplasia is more common in the male gender than in the female one. The side of the VA aplasia had a significant effect on the side of CVBA persistence. Associated aplasia of other arteries was more common in cases of unilateral VA aplasia. The left VA was more commonly hypoplastic in cases of single right VA aplasia than the right VA in cases of single left VA aplasia. Aneurysms of definitive arteries were more frequent in cases of single right VA aplasia than in cases of single left VA aplasia. We claim that the aplasia of the VA probably depends on genetic factors in some races, while diseases are expressed usually in persons over 30 years of age.
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http://dx.doi.org/10.1155/2017/7238672 | DOI Listing |
Pan Afr Med J
January 2025
Department of Ophthalmology, Faculty of Medicine Universitas Airlangga, Dr. Soetomo General Academic Hospital, Surabaya, Indonesia.
Anterior segment dysgenesis exerts its influence on a diverse array of ocular structures, encompassing the cornea, iris, ciliary body, anterior chamber and lens. We present a 20-month-old boy with bilateral corneal opacity. The visual acuity (VA) was 6/480 in both eyes.
View Article and Find Full Text PDFCureus
December 2024
Pulmonology, Algemeen Ziekenhuis Glorieux, Ronse, BEL.
Heterotaxy syndrome is characterized by abnormal left-right arrangement of thoracoabdominal organs and is frequently associated with complex cardiac anomalies. However, cases with predominant extracardiac manifestations are increasingly recognized. This report describes a 20-year-old female of North African descent with consanguineous parentage, who presented with chronic cough and exertional dyspnea persisting over several years.
View Article and Find Full Text PDFNeuroimage
January 2025
High-Field MR Center, Department of Biomedical Imaging and Image-guided Therapy, Medical University of Vienna, Vienna, Austria; Christian Doppler Laboratory for MR Imaging Biomarkers (BIOMAK), Department of Biomedical Imaging and Image-guided Therapy, Medical University of Vienna, Vienna, Austria.
Objectives: To assess topographical patterns of metabolic abnormalities in the cerebrum of multiple sclerosis (MS) patients and their relationship to clinical disability using rapid echo-less 3D-MR spectroscopic imaging (MRSI) at 7T.
Materials And Methods: This study included 26 MS patients (13 women; median age 34) and 13 age- and sex-matched healthy controls (7 women; median age 33). Metabolic maps were obtained using echo-less 3D-MRSI at 7T with a 64 × 64 × 33 matrix and a nominal voxel size of 3.
Genes (Basel)
January 2025
Ophthalmology Department, Federal University of São Paulo, São Paulo 04039-032, Brazil.
Background: Nance-Horan syndrome (NHS) is a rare, frequently underdiagnosed, X-linked disease caused by mutations in the NHS gene. In males, it causes bilateral dense pediatric cataracts, dental anomalies, and facial dysmorphisms. Females traditionally have a more subtle phenotype with discrete lens opacities as an isolated feature.
View Article and Find Full Text PDFGenes (Basel)
January 2025
The Cornea Dystrophy Research Institute, Yonsei University College of Medicine, 50-1 Yonsei-ro, Seodaemungu, Seoul 03722, Republic of Korea.
(1) Background: The phenotypes of classic lattice corneal dystrophy (LCD) and granular corneal dystrophy type 2 (GCD2) that result from abnormalities in gene () have previously been described. The phenotype of compound heterozygous classic LCD and GCD2, however, has not yet been reported. (2) Case report: A 39-year-old male (proband) presented to our clinic complaining of decreased vision bilaterally.
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