Effect of endoscopic sinus surgery on quality of life among the patients of chronic rhinosinusitis with nasal polyposis

Abstract Background Quality of life (QoL) tests are usually used to assess the response to different therapies. They are the tools that best reflect the patients’ complaints, the severity of their pathology, and the post-therapeutic gains. The aim of the present study is to assess the effect of endoscopic sinus surgery (ESS) on quality of life (QoL) among the patients of chronic rhinosinusitis with nasal polyposis (CRSwNP), using the Sino-Nasal Outcome Test 22 items (SNOT-22). Methods This is a prospective, descriptive, and monocentric study involving all the patients who underwent surgery for CRS with nasal polyposis at Bejaia University Hospital over a period of 36 months, from January 1st, 2017, to December 31st, 2019. A SNOT-22 test was completed item by item with our patients, before any surgery, and after endoscopic sinus surgery at 1 month, 3 months, 6 months, 9 months, and 12 months. Results Sixty-five patients, having undergone ESS for CRS with nasal polyposis, were followed during a period 12 months. The average age of our patients was 42.06 ± 12.47 years, with 41.5% females and 58.5% males. Clinical examination showed that impairment was bilateral in 100% of our patients, while the nasal endoscopy showed that the polyps reached stage III in 87.7% of the cases on the right and 80% on the left. The mean Lund-Mackay CT score was 18.71 ± 4.77/24. All of the patients were treated with local and general short courses of corticosteroid therapy before ESS was indicated. Our results showed improvement in the QoL of our patients and maintenance of this gain after surgery. The average total SNOT-22 score for them was 49.41 ± 17.12 pre-operatively; post-operatively it was 12.14 ± 10.22 after 1 month; 10.31 ± 8.17 after 3 months; 9.35 ± 8.93 after 6 months; 12.21 ± 15.45 after 9 months and 12.63 ± 16.23 after 12 months. Conclusion ESS is the gold standard in the treatment of chronic rhinosinusitis with nasal polyposis after failure of medical therapy. The use of SNOT-22 test enabled us to confirm that whatever the surgical procedure applied, the QoL improves after surgery

The spectrum of GJB2 gene mutations in Algerian families with nonsyndromic hearing loss from Sahara and Kabylie regions

International audienceIntroduction: DFNB1, caused by mutations of GJB2 or GJB6, is the most prevalent genetic form of nonsyndromic (i.e., isolated) congenital deafness in countries located around the Mediterranean Sea. Because some mutations are restricted to specific ethnic-geographic groups, we studied the prevalence and spectrum of GJB2/GJB6 mutations in deaf patients originating from two different Algerian regions, Kabylie and Sahara.Patients and methods: Among 91 reportedly unrelated Algerian patients affected by prelingual deafness, 80 patients (41 from Kabylie and 39 from Sahara) were diagnosed with isolated deafness. All had profound deafness, except one patient with mild deafness. They were screened for the presence of GJB2 mutations by direct sequencing of the single coding exon of GJB2. Patients without mutations were then screened for the presence of the most frequent two deletions of GJB6: del(GJB6-D13S1854) and del(GJB6-D13S1830).Results: Causative mutations were found in 13 and 8 patients from Kabylie and Sahara, respectively, accounting for more than a quarter of the cohort. The c.35delG, p.Gly12Valfs*2 mutation remains the most important mutation both in Kabylie (10 patients) and Sahara (7 patients). All detected patients were homozygous for this mutation. In addition, two other mutations (c.139G > T, p.Glu47* and c.167delT, p.Leu56Argfs*26) were found homozygous in one family each, and two patients were compound heterozygotes for (c.35delG p.Gly12Valfs*2/c.139G > T, p.Glu47*). No deletion of GJB6 was detected.Conclusion: We confirm that mutations in GJB2, mainly c.35delG, are one of the most prevalent causes of nonsyndromic congenital deafness in Algeria, whereas the del (GJB6-D13S1854) and del (GJB6-D13S1830) deletions of GJB6 contribute little, if any. Further investigation is needed to identify the cause of deafness in other patients without diagnostic

ATP6V1B1 recurrent mutations in Algerian deaf patients associated with renal tubular acidosis

International audienceHereditary distal renal tubular acidosis (dRTA) is a rare disorder characterized by metabolic acidosis due to impaired renal acid excretion. To date, three genes (ATP6V1B1, ATP6V0A4 and SLC4A1) have been reported to be responsible for this genetic disorder. Notably, mutations of ATP6V1B1 gene, which encode B1-subunit of H + -ATPase pump cause distal renal tubular acidosis often, associated with sensorineural hearing loss (SNHL). Furthermore, enlarged vestibular aqueduct (EVA) was also described in some patients with ATP6V1B1 mutations. Four Algerian unrelated patients presented with dRTA and SNHL were recruited. The ATP6V1B1 gene was preferentially analyzed in all these patients by Sanger sequencing. We identified two previously reported variants in ATP6V1B1 gene: a frameshift mutation (c.1155dupC: p.(Ile386Hisfs*56) in exon 12 and a splicing mutation in intron 2 (c.175-1G > C: p?). Both mutations were homozygous in affected members. Interestingly, one patient with p.(Ile386Hisfs*56) mutation presented profound SNHL and bilateral enlarged vestibular aqueduct (EVA). Our study indicates the importance contribution of ATP6V1B1 gene mutations to the pathogenesis of the dRTA in the Algerian population and will contribute to introducing principles to predict the characteristics of the dRTA in patients. Thus, screening for this gene could allow rapid patient management and provide adequate genetic counseling

Genetic heterogeneity of congenital hearing impairment in Algerians from the Ghardaïa province

International audienceBackground: Consanguinity rate is high in Algeria, and the population is thus at high risk for genetic diseases transmitted on an autosomal recessive mode. Inherited congenital hearing impairment (HI) is a highly heterogeneous disorder, which affects approximately 1 in 800 Algerian newborns. Several hundreds of genes responsible for deafness have been reported among which more than one hundred are responsible for isolated deafness, of which 19 have already been reported to be involved in the Algerian population. This study focuses on patients from the Ghardaïa province, an ethnically and geographically isolated region of Southern Algeria that has the highest consanguinity rate in the country (56%).Methods: Eleven families, with at least two related members experiencing moderate to profound congenital HI, were recruited and screened for mutations in known HI genes.Results: A preliminary screening for common mutations in GJB2 and GJB6 identified the prevalent GJB2:c.35delG mutation in four families. Targeted exome sequencing further identified the causal mutations in the remaining seven families: CIB2:c.97C > T; p.(Arg33*), MYO7A:c.470+1G > A; p.(?), and SLC26A4:c.410C > T; p.(Ser137Leu) biallelic mutations in two families each, and a TECTA:c.2743 A > G; p.(Ile915Val) monoallelic mutation in the only family with autosomal dominant transmission of the HI. Of note, the missense mutations of SLC26A4 and TECTA had not been previously reported.Conclusion: These results further substantiate the genetic heterogeneity of HI, even in reportedly isolated populations. However, several families may harbor the same mutations as a result of a long history of marriages between relatives. This study has important implications for the HI molecular diagnosis strategy, and to develop genetic counseling for families originating from the Ghardaïa province of Algeria