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Cerebrotendinous xanthomatosis: A complex interplay between a clinically and genetically heterogeneous condition.
Eur J Neurol
January 2025
Brain and Mind Centre, University of Sydney, Camperdown, New South Wales, Australia.
Background And Purpose: Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive lipid storage disease characterized by abnormal bile acid synthesis. It often presents with systemic and neurological manifestations; however, atypical presentations can lead to significant diagnostic challenges. This case report highlights the diagnostic complexities and management considerations in a patient with an uncommon presentation of CTX.
View Article and Find Full Text PDFEndovascular single-branched stent graft to treat complicated type B aortic dissection involving aortic arch anomalies.
Eur J Med Res
December 2024
Department of Peripheral Vascular Diseases, The First Affiliated Hospital of Xi'an Jiaotong University, No. 277, Yanta West Road, Xi'an, Shaanxi, China.
Background: The optimal treatment of complicated type B aortic dissection (cTBAD) involving arch anomalies remain unclear.
Methods: We consecutively enrolled patients with cTBAD involving arch anomalies who underwent endovascular repair using a single-branched stent graft (SBSG) at our medical center between January 2020 and January 2023. The demographics, clinical manifestation, operation detail, and follow-up outcomes of these patients were retrospectively collected and analyzed.
A Japanese Family with a Novel Pathogenic Variant in KIF1A Presenting with Spastic Paraparesis, Cerebellar Ataxia, and Intellectual Disability.
Cerebellum
December 2024
Department of Neurology, International University of Health and Welfare Mita Hospital, Mita 1-4-3, Minato-ku, Tokyo, 108-8329, Japan.
Variants in KIF1A are associated with hereditary spastic paraplegia (SPG30), which can manifest in both pure and complex forms. We describe a Japanese family with a novel KIF1A variant presenting with a complex form of SPG30. Patient 1, a 69-year-old woman, experienced progressive gait disturbance due to spastic paraparesis and cerebellar atrophy, and intellectual disability.
View Article and Find Full Text PDFCHD3-related Snijders Blok-Campeau syndrome with Spastic Paraplegia, Ataxia, and Situs Inversus.
Eur J Med Genet
December 2024
First Department of Neurology, First Affiliated Hospital of Kunming Medical University, Kunming, 650000, China. Electronic address:
The Chromodomain Helicase DNA-binding (CHD) protein family is ATP-dependent chromatin remodeling proteins that utilize energy produced by ATP hydrolysis to regulate chromatin structure and thereby modulate gene expression. The earliest report of a CHD3 gene mutation was by O'Roak, who found it during whole exome sequencing of 189 autism families in 2012. In 2018, Snijders Blok systematically assessed the autosomal dominant neurodevelopmental disorder caused by CHD3 gene damage, known as Snijders Blok-Campeau syndrome (SNIBCPS, OMIM 618205).
View Article and Find Full Text PDFA Rare Case of Acute Aortic Occlusion Mimicking Cauda Equina Syndrome in a Patient With Inflammatory Bowel Disease.
Cureus
November 2024
Vascular Surgery, Unidade Local de Saúde São José, Lisbon, PRT.
Acute aortic occlusion (AAO) is a rare and life-threatening condition, mostly secondary to acute thrombosis or embolism. It usually presents as bilateral lower limb ischemia; however, in rare cases, spinal cord infarction might coexist, mimicking cauda equina syndrome. We present a rare case of AAO by saddle embolism of a thoracic aortic mural thrombus.
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