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| http://dx.doi.org/10.11604/pamj.2015.20.11.5761 | DOI Listing |
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Introduction: COQ4 mutation often leads to a fatal multi-system disease in infants. Recently, it was reported that the biallelic COQ4 variants may be a potential cause of hereditary spastic paraplegia (HSP). This study aims to describe the clinical features and genotype of the COQ4 associated hereditary spastic paraplegia (HSP).
View Article and Find Full Text PDFImmunoprophylaxis with MV140 Is Effective in the Reduction of Urinary Tract Infections-A Prospective Real-Life Study.
Vaccines (Basel)
December 2024
Urology Department, Hospital de Santa Maria, 1649-028 Lisbon, Portugal.
Background/objectives: Urinary tract infections (UTI) represent a highly frequent and debilitating disease. Immunoactive prophylaxis, such as the polyvalent bacterial whole-cell-based sublingual vaccine MV140, have been developed to avoid antibiotic use. However, the effectiveness of this tool in the Portuguese population is still unknown.
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.
From spastic paraplegia to infantile neurodegenerative disorder: Expanding the phenotypic spectrum associated with biallelic SPAST variants.
Eur J Neurol
January 2025
Service de Génétique Médicale, CHU Bordeaux, Bordeaux, France.
Purpose: Heterozygous pathogenic variants in SPAST are known to cause Hereditary Spastic Paraplegia 4 (SPG4), the most common form of HSP, characterized by progressive bilateral lower limbs spasticity with frequent sphincter disorders. However, there are very few descriptions in the literature of patients carrying biallelic variants in SPAST.
Methods: Targeted Sanger sequencing, panel sequencing and exome sequencing were used to identify the genetic causes in 9 patients from 6 unrelated families with symptoms of HSP or infantile neurodegenerative disorder.
Preventing Spinal Cord Injury in Single-Staged Juxtarenal and Thoracoabdominal Endovascular Aortic Aneurysm Repair: An Evaluation of Cerebrospinal Fluid Catheter Drainage.
J Endovasc Ther
December 2024
Department of Vascular and Endovascular Surgery, Klinik Ottakring, Wiener Gesundheitsverbund, Wien, Austria.
Objective: This study offers a retrospective assessment of a single-center experience using cerebrospinal fluid catheters to reduce the risk of perioperative spinal cord injury in patients undergoing single-staged complex endovascular juxtarenal or thoracoabdominal aortic aneurysm repair.
Results: A total of 97 patients were included. On average, 70.
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