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Symptomatic vascular ring due to double aortic arch: A report of two cases.
Radiol Case Rep
January 2025
Department of Radiology, College of Health Sciences, Addis Ababa University, Addis Ababa, Ethiopia.
Vascular ring anomalies, represented mainly by the double aortic arch (DAA), account for about 1% of congenital cardiovascular anomalies and are characterized by tracheoesophageal compression due to encircling vascular or ligamentous structures. These anomalies arise from the failure of the right fourth aortic arch to regress during embryonic development, leading to symptoms ranging from respiratory distress to dysphagia. Diagnostic imaging includes chest radiography, CT, MRI, and echocardiography, each with specific considerations, especially in pediatric patients.
View Article and Find Full Text PDFCharacterization of Two Novel PNKP Splice-Site Variants in a Proband With Microcephaly, Intellectual Disability, and Multiple Malformations.
Am J Med Genet B Neuropsychiatr Genet
October 2024
Department of Women's and Children's Health, University of Padova, Padova, Italy.
Polynucleotide kinase phosphatase (PNKP), encoded by the PNKP gene, is a DNA processing enzyme involved in double-strand break and single-strand break repair pathways, which are essential for genome stability and for the correct development and maintenance of human nervous system. PNKP biallelic loss-of-function variants have been associated with a broad spectrum of neurological anomalies, ranging from congenital microcephaly with intellectual disability and seizures (MCSZ), to later onset forms of ataxia-oculomotor apraxia (AOA4) or peripheral neuropathy (CMT2B2). We report the atypical clinical manifestations of a patient with severe microcephaly, short stature, developmental delay, conductive hearing loss, and tracheoesophageal malformation, in the absence of seizures.
View Article and Find Full Text PDFA double-blind randomized clinical trial of inflammatory cytokine and pepsin levels in the saliva of patients with voice prostheses.
Head Neck
September 2024
Department of Otorhinolaryngology - Head and Neck Surgery, Medical University of Warsaw, Warsaw, Poland.
Background: Tracheoesophageal speech is one of the most effective method used for voice rehabilitation after laryngectomy. The main limitation is the need for periodic voice prothesis (VP) replacements. The process of developing VP usage complications is still unexplored.
View Article and Find Full Text PDFBypass surgery with double-blind end esophagus for a patient with malignant tracheoesophageal fistula: A case report and literature review.
Asian J Surg
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Division of Thoracic Surgery, Department of Surgery, Taichung Veteran General Hospital, Taichung, 407, Taiwan. Electronic address:
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