Gastric pull-up with laryngeal preservation of the primary synovial sarcoma of the esophagus: A case report

In patients who require a gastric pull-up, despite bilateral injury to the vocal cords and regurgitation, preservation of the larynx can improve their quality of life. © 2021 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd

Evaluation of the effect of endoscopic partial middle-turbinectomy surgery on the quality of life of patients with chronic rhinosinusitis and nasal polyps

Background: Chronic rhinosinusitis (CRS) is a common chronic inflammatory disease. Endoscopic sinus surgery is recommended as a standard method when medical treatment fails. The effectiveness of various complementary surgical methods such as endoscopic partial middle-turbinectomy is controversial in the improvement of CRS symptoms in these patients. This study aimed to investigate the effect of endoscopic partial middle-turbinectomy on the quality of life (QOL) of patients with chronic rhinosinusitis and nasal polyps (CRSwNP) in Iran. Method: Ninety patients with CRSwNP of grades 3 and 4 were randomly assigned to either an intervention (45 patients) or control group (45 patients). In the control group, endoscopic sinus surgery without middle turbinectomy was performed and in the intervention group, endoscopic partial middle-turbinectomy was performed in addition to endoscopic sinus surgery. To evaluate the outcomes, the SNOT-22 QOL questionnaire was used, and the results were analyzed using SPSS version 24. Results: Most of the patients were male and had a mean age of 39 years. The mean SNOT-22 QOL questionnaire scores were 49.13±16.72 and 52.51±16.95 before surgery in the control and intervention groups respectively, which did not show any significant difference. In contrast, after endoscopic surgery these scores changed to 28.46±12.38 and 11.13±5.55 in the control and intervention groups, respectively< and there was a significant difference between both groups. Although there was a significant improvement in both groups, the patients in the intervention group experienced more improvement than the control group (41.4 (±16.46) vs 30.7 (±18.27), respectively Conclusion: According to this study, it appears that the use of endoscopic partial middle-turbinectomy in addition to endoscopic sinus surgery improves CRS symptoms and the QOL of patients compared with endoscopic sinus surgery alone. © 2020, International Rhinologic Society. All rights reserved

A Clinical and Molecular Genetic Study of 50 Families with Autosomal Recessive Parkinsonism Revealed Known and Novel Gene Mutations

In this study, the role of known Parkinson�s disease (PD) genes was examined in families with autosomal recessive (AR) parkinsonism to assist with the differential diagnosis of PD. Some families without mutations in known genes were also subject to whole genome sequencing with the objective to identify novel parkinsonism-related genes. Families were selected from 4000 clinical files of patients with PD or parkinsonism. AR inheritance pattern, consanguinity, and a minimum of two affected individuals per family were used as inclusion criteria. For disease gene/mutation identification, multiplex ligation-dependent probe amplification, quantitative PCR, linkage, and Sanger and whole genome sequencing assays were carried out. A total of 116 patients (50 families) were examined. Fifty-four patients (46.55; 22 families) were found to carry pathogenic mutations in known genes while a novel gene, not previously associated with parkinsonism, was found mutated in a single family (2 patients). Pathogenic mutations, including missense, nonsense, frameshift, and exon rearrangements, were found in Parkin, PINK1, DJ-1, SYNJ1, and VAC14 genes. In conclusion, variable phenotypic expressivity was seen across all families. © 2017, Springer Science+Business Media New York

A Clinical and Molecular Genetic Study of 50 Families with Autosomal Recessive Parkinsonism Revealed Known and Novel Gene Mutations

In this study, the role of known Parkinson�s disease (PD) genes was examined in families with autosomal recessive (AR) parkinsonism to assist with the differential diagnosis of PD. Some families without mutations in known genes were also subject to whole genome sequencing with the objective to identify novel parkinsonism-related genes. Families were selected from 4000 clinical files of patients with PD or parkinsonism. AR inheritance pattern, consanguinity, and a minimum of two affected individuals per family were used as inclusion criteria. For disease gene/mutation identification, multiplex ligation-dependent probe amplification, quantitative PCR, linkage, and Sanger and whole genome sequencing assays were carried out. A total of 116 patients (50 families) were examined. Fifty-four patients (46.55; 22 families) were found to carry pathogenic mutations in known genes while a novel gene, not previously associated with parkinsonism, was found mutated in a single family (2 patients). Pathogenic mutations, including missense, nonsense, frameshift, and exon rearrangements, were found in Parkin, PINK1, DJ-1, SYNJ1, and VAC14 genes. In conclusion, variable phenotypic expressivity was seen across all families. © 2017, Springer Science+Business Media New York