Identification of a novel frameshift mutation in the DFNB31/WHRN gene in a Tunisian consanguineous family with hereditary non-syndromic recessive hearing loss

Approximately 80% of hereditary hearing loss is non-syndromic. Non-syndromic deafness is the most genetically heterogeneous trait. The most common and severe form of hereditary hearing impairment is autosomal recessive non-syndromic hearing loss (ARNSHL), accounting for approximately 80% of cases of genetic deafness. To date, 22 genes implicated in ARNSHL have been identified. Recently a gene, DFNB31/WHRN, which encodes a putative PDZ scaffold protein called whirlin, was found to be responsible for the ARNSHL DFNB31. We found evidence for linkage to the DFNB31locus in a consanguineous Tunisian family segregating congenital profound ARNSHL. Mutation screening of DFNB31/WHRNrevealed four nonpathogenic sequence variants and a novel frameshift mutation [c.2423delG] + [c.2423delG] that changed the reading frame and induced a novel stop codon at amino acid 818 ([p.Gly808AspfsX11] + [p.Gly808AspfsX11]). To determine the contribution of the DFNB31locus in the childhood deafness, we performed linkage analysis in 62 unrelated informative families affected with ARNSHL. No linkage was found to this locus. From this study, we concluded that DFNB31/WHRN is most likely to be a rare cause of ARNSHL in the Tunisian population.     

Pulmonary and mediastinal "sarcoidosis" following surgical resection of cancer

Previous reports indicate that enlarged hilar and mediastinal lymph nodes caused by sarcoid-like reactions may develop after curative resection of cancer, and their presence does not necessarily denote neoplastic recurrence. Reports further suggest that coexisting pulmonary infiltrates in this setting may be related to sarcoidosis. In this study, we describe two patients who had resected lung and gastric cancer and who later developed pulmonary interstitial infiltrate, concurrent with progressive mediastinal lymphadenopathy initially thought to be caused by intrathoracic dissemination of their cancer. These changes were shown by open lung biopsy to be a benign, granulomatous reaction interpreted as sarcoidosis. Thus, it is important to recognize this clinical pattern when pulmonary infiltrates develop after complete treatment of cancer in an otherwise relapse-free patient and to encourage lung or lymph node biopsy in these particular settings in order to confirm a sarcoid-like reaction, thereby avoiding unnecessary chemotherapy for presumed tumor recurrence.     

Evaluation of crude and purified Toxocara canis antigens in serodiagnosis of human toxocariasis

Three serological tests: Immunodiffusion (ID), Counterimmunoelectrophoresis (CIEP) and Enzyme-linked immunosorbent assay (ELISA) were used to study the role of crude adult worm antigen (CAWA) of Toxocara canis and each of its purified fractions in the serodiagnosis of human toxocariasis. Sensitivities of the three tests were lower in the ocular than in the visceral group, using different antigens. Purified fraction 1 showed more sensitive and specific reactions in the three tests, compared to CAWA or purified fraction 2 (P-F2) antigen. The other purified fractions (P-F3, P-F4 and P-F5) gave no positive reactions in any of the three tests. Using P-F1 antigen, ELISA was the most sensitive technique for diagnosis of both visceral and ocular toxocariasis followed by CIEP and then ID and the difference was statistically significant. However, CIEP was the most specific test followed by ELISA and lastly ID test. The ELISA test using Excretory-Secretory (E-S) larval antigen of Toxocara canis was less sensitive than the ELISA test using P-F1, although it was 100% specific. Thus, ELISA test using P-F1 is the test of choice for diagnosis of human toxocariasis, but when the specificity of a reaction is in doubt, CIEP test using the same antigen can be of value.     

The relationship between occupational exposure to organic solvents and metabolic syndrome in petroleum refinery workers in Tehran,Iran

AimsThe rising prevalence of metabolic syndrome has made it a major health concern. Chronic occupational exposure to organic solvents affects different systems of the body. This study aimed to investigate the association between exposure to organic solvents and the prevalence of metabolic syndrome in petroleum refinery workers.MethodThis study was conducted in 2019–2020 on workers employed in an Iranian petroleum refinery. The demographic and occupational information on the participants was obtained using the interview method. Their height, weight, and blood pressure were measured by the occupational health team, and fasting blood samples were taken from them to measure the paraclinical parameters.ResultsIn this study, 1009 petroleum refinery workers were analyzed. The prevalence of metabolic syndrome in workers was 20.1% and it was about two times higher in exposed workers (CI 95%: 1.61–3.35) compared to non-exposed ones. Factors associated with the prevalence of metabolic syndrome include age, higher BMI, exercise, and longer exposure to organic solvents.ConclusionFindings of this study suggested that exposure to organic solvents is associated with increased prevalence of metabolic syndrome (the highest association was observed with elevated serum triglycerides). Besides, longer exposure to organic solvents increased the risk of developing metabolic syndrome.     

Treatment of Older Patients with High-Risk Myelodysplastic Syndromes (MDS): The Emerging Role of Allogeneic Hematopoietic Stem Cell Transplantation (Allo HSCT)

MDS are myeloid clonal hematologic disorders that are most commonly diagnosed in the seventh decade of life. Several treatment options are currently available. However, allo HSCT remains the only curative therapy. Unfortunately, despite the higher incidence of MDS in the older population, less than 10 % of patients undergoing allo HSCT for MDS are > 65 years old. In this paper we discuss the various treatment options in older patients with high-risk MDS with particular emphasis on the role of allo HSCT in older MDS patients.     

A comparative study on the photocatalytic degradation of organic dyes using hybridized 1T/2H, 1T/3R and 2H MoS2 nano-sheets

MoS₂ is a very attractive material and has been well studied for potential applications in various areas. However, due to the wide variety of factors affecting the molecular and electronic structure of MoS₂, several contradictory reports about the adsorptive and photocatalytic properties of such materials have been published. In most of these reports, the effect of the actual phase of the materials on the properties was neglected. Here, different phases of MoS₂ nanosheets (1T/2H, 1T/3R and 2H) have been obtained using the hydrothermal method with different Mo : S molar ratios and different autoclave filling ratios. The obtained materials have been thoroughly characterized using Raman, UV-vis, powder XRD, SEM, TEM and XPS measurements in order to accurately identify the existing phases in each material. A comparative study of the photocatalytic organic dye degradation efficiency under white light irradiation has been conducted using methyl orange to correlate the different activity of each material to the respective phase composition. The results indicate a much higher performance of the 1T/2H phase compared to the 2H and 3R phases. Detailed computational studies of the different phases revealed the emergence of mid-gap states upon introducing 1T sites into the 2H lattice. This leads to the improvement of the photocatalytic activity of 1T/2H compared to the other prepared materials.

MoS₂ is a very attractive material and has been well studied for potential applications in various areas.     

Computed tomographic scan mapping of gastric wall perfusion and clinical implications

Background

Several postoperative gastrointestinal complications are attributed to ischemia. We herein evaluate the gastric wall perfusion using computed tomography (CT) scan perfusion index on trial to address the etiology of ischemic complication after sleeve gastrectomy.

Methods

A retrospective study of 205 patients undergoing CT scan of the abdomen to evaluate the pattern of gastric vascular perfusion was performed. The perfusion index of the gastric mucosa was measured at 5 gastric points using CT perfusion scanning.

Results

Gastric perfusion at the angle of His (AOH) (53.51 ± 14.38) was statistically significantly lower (P < .001) than that at the other gastric points studied: fundus, greater curvature, lesser curvature, incisura angularis, and mid gastric points (76.16 ± 15.21, 73.27 ± 16.55, 76.12 ± 16.12, and 75.24 ± 14.9, respectively). Gastric perfusion was significantly lower at all the gastric points (and especially so at the AOH) among obese patients (33 cases) compared with nonobese patients (18 cases). Gastric perfusion at all the points studied showed a decrease as the body mass index increases. Hypertensive patients had a better gastric perfusion compared with nonhypertensive patients.

Conclusions

Gastric wall perfusion is statistically significantly decreased at the AOH and gastric fundus compared with perfusion at other gastric points. Gastric perfusion at all the gastric points studied decreased with the increase in body mass index. Gastric leakage in obese patients following sleeve gastrectomy could be attributed to a decrease in the blood supply at AOH.