Cervical paragangliomas: experience of 114 cases in 14 years.

Introduction and objective: To report a single center experience with carotid body paraganglioma cases that were treated by the same surgeon in a city with high prevalence of paragangliomas due to high altitude. Methods: We retrospectively investigated the demographic, clinicopathological and radiological data of 104 patients diagnosed with cervical paragangliomas between 2003 and 2017. The patients were classified according to the Shamblin classification. Results: In this study a total of 104 patients (33 male and 71 female, with a mean age of 54.6±13 years) diagnosed with cervical paragangliomas located on carotid bifurcation between 2003 and 2017 were included. Among those patients, 10 presented with bilateral tumors and in total, 114 paragangliomas were managed in this period. The mean diameter of the tumors was 5.12±1.45cm. Malignant tumor was determined in only one (0.9%) patient. All patients were operated. In 12 patients with the tumor diameter larger than 5cm, preoperative coil embolization was achieved. In 14 patients, preoperative angiographic embolization was employed and in 4 patients intraoperative sclerosing agent injections were performed. Facial paralysis was observed in 2 patients and dysphagia was present in 1 patient, Horner syndrome was seen in 1 patient and hoarseness was reported in 7 patients after operation. All those complications improved during follow-up. Mortality was not reported in any cases. Conclusion: Surgery is the definitive treatment for patients with cervical paragangliomas. Although, it may be difficult in patients with the advanced Shamblin types, in experienced hands, complication rates are very low. Keywords: Angiographic embolization; Bifurcação carotídea; Carotid bifurcation; Cervical paragangliomas; Classificação de Shamblin; Embolização angiográfica; Paragangliomas cervicais; Shamblin classification

Association between IL-4 gene polymorphisms and IL-4 serum levels in patients with allergic rhinitis

Genetic factors play a major role in the formation of allergic rhinitis. The most studied genes for the investigation of the genetic origin of allergic rhinitis are the cytokine genes. We aimed to analyse the relation between susceptibility to allergic rhinitis and IL-4 C-590T and C+33T polymorphisms. For this aim, serum IL-4 levels and IL-4 C-590T and C+33T polymorphisms of 211 allergic rhinitis cases and 232 healthy individuals (control group) were analysed. We found that the individuals carrying IL-4 +33T allele and IL-4 -590TT and +33TT genotypes were much more predisposed to allergic rhinitis than the individuals carrying CC wild type genotypes. Our results also suggest that serum IL-4 levels of control group carrying the IL-4 -590 CT and TT genotypes and T allele and IL-4 +33 CT and TT genotypes, and T allele were significantly higher than the CC genotypes and T alleles carriers. As a result, it is possible to say that IL-4 C-590T and C+33T polymorphisms may increase the susceptibility of allergic rhinitis because of their lowering of IL-4 levels in serum. [Med-Science 2021; 10(2.000): 462-8

Novel GPR156 variants confirm its role in moderate sensorineural hearing loss

Hereditary hearing loss (HL) is a genetically heterogeneous disorder affecting people worldwide. The implementation of advanced sequencing technologies has significantly contributed to the identification of novel genes involved in HL. In this study, probands of two Turkish families with non-syndromic moderate HL were subjected to exome sequencing. The data analysis identified the c.600G > A (p.Thr200Thr) and c.1863dupG (p.His622fs) variants in GPR156 , which co-segregated with the phenotype as an autosomal recessive trait in the respective families. The in silico predictions and a minigene assay showed that the c.600G > A variant disrupts mRNA splicing. This gene belongs to the family of G protein-coupled receptors whose function is not well established in the inner ear. GPR156 variants have very recently been reported to cause HL in three families. Our study from a different ethnic background confirms GPR156 as a bona fide gene involved in HL in humans. Further investigation towards the understanding of the role of GPCRs in the inner ear is warranted

Serum Trace Elements and Heavy Metal Levels in Patients Diagnosed with Chronic Otitis Media and Their Association with Surgical Treatment Outcomes

OBJECTIVE: To determine the serum iron (Fe), zinc (Zn), manganese (Mn), copper (Cu), magnesium (Mg), cobalt (Co), and lead (Pb) levels in patients with chronic otitis media (COM) and to evaluate the association of the serum levels of these elements with treatment outcomes

Genome sequencing identifies coding and non-coding variants for non-syndromic hearing loss

Hearing loss (HL) is a common heterogeneous trait that involves variants in more than 200 genes. In this study, we utilized exome (ES) and genome sequencing (GS) to effectively identify the genetic cause of presumably non-syndromic HL in 322 families from South and West Asia and Latin America. Biallelic GJB2 variants were identified in 58 probands at the time of enrollment these probands were excluded. In addition, upon review of phenotypic findings, 38/322 probands were excluded based on syndromic findings at the time of ascertainment and no further evaluation was performed on those samples. We performed ES as a primary diagnostic tool on one or two affected individuals from 212/226 families. Via ES we detected a total of 78 variants in 30 genes and showed their co-segregation with HL in 71 affected families. Most of the variants were frameshift or missense and affected individuals were either homozygous or compound heterozygous in their respective families. We employed GS as a primary test on a subset of 14 families and a secondary tool on 22 families which were unsolved by ES. Although the cumulative detection rate of causal variants by ES and GS is 40% (89/226), GS alone has led to a molecular diagnosis in 7 of 14 families as the primary tool and 5 of 22 families as the secondary test. GS successfully identified variants present in deep intronic or complex regions not detectable by ES

Comprehensive Analysis Via Exome Sequencing Uncovers Genetic Etiology In Autosomal Recessive Non-Syndromic Deafness In A Large Multiethnic Cohort

Purpose Autosomal recessive non-syndromic deafness (ARNSD) is characterized by a high degree of genetic heterogeneity with reported mutations in 58 different genes. This study was designed to detect deafness causing variants in a multiethnic cohort with ARNSD by using whole-exome sequencing (WES). Methods After excluding mutations in the most common gene, GJB2, we performed WES in 160 multiplex families with ARNSD from Turkey, Iran, Mexico, Ecuador and Puerto Rico to screen for mutations in all known ARNSD genes. Results We detected ARNSD-causing variants in 90 (56%) families, 54% of which had not been previously reported. Identified mutations were located in 31 known ARNSD genes. The most common genes with mutations were MYO15A (13%), MYO7A (11%), SLC26A4 (10%), TMPRSS3 (9%), TMC1 (8%), ILDR1 (6%) and CDH23 (4%). Nine mutations were detected in multiple families with shared haplotypes suggesting founder effects. Conclusion We report on a large multiethnic cohort with ARNSD in which comprehensive analysis of all known ARNSD genes identifies causative DNA variants in 56% of the families. In the remaining families, WES allows us to search for causative variants in novel genes, thus improving our ability to explain the underlying etiology in more families.PubMedWoSScopu