GJB2 mutations in Iranians with autosomal recessive non-syndromic sensorineural hearing loss

Hereditary hearing loss (HHL) is an extremely common disorder. About 70% of HHL is non-syndromic, with autosomal recessive forms accounting for approximately 85% of the genetic load. Although very heterogeneous, the most common cause of HHL in many different world populations is mutations of GJB2, a gene that encodes the gap junction protein connexin 26 (Cx26). This study investigates the contribution of GJB2 to the autosomal recessive non-syndromic deafness (ARNSD) load in the Iranian population. One hundred sixty eight persons from 83 families were studied. GJB2-related deafness was diagnosed in 9 families (4, 35delG homozygotes; 3, 35delG compound heterozygotes; 1, W24X homozygote; 1, non-35delG compound heterozygote). The carrier frequency of the 35delG allele in this population was approximately 1% (1/83). Because the relative frequency of Cx26 mutations is much less than in the other populations, it is possible that mutations in other genes play a major role in ARNSD in Iran.     

Evaluating the efficacy of extracted squalene from seed oil in the form of microemulsion for the treatment of COVID-19: A clinical study

This study investigates the effect of the nanostructure of squalene in the form of microemulsion on COVID-19 patients. In this blinded clinical trial, a comparison was made between the efficacy of squalene treatment and controls. A total of 30 COVID-19 patients admitted to the emergency department, and the infection ward was equally allocated to case (n = 15) and control (n = 15) groups according to their age and underlying diseases. The baseline characteristics of subjects, including age, gender, time of treatment onset, underlying condition, white blood cells count, and lymphocyte count were similar (p < 0.05). Baseline laboratory tests and computed tomography (CT) scans were performed for the study groups. The treatment group received 5 mg of intravenous squalene twice a day and standard treatment for 6 days, while controls received only standard treatment. After 6 days of treatment, clinical and CT scan changes were evaluated and compared in intervention and control groups. The need for oxygen therapy (p = 0.020), 2 days of no fever (p = 0.025), cough alleviation (p = 0.010), and lung high-resolution computed tomography improvement (p = 0.033) were significantly different between cases and controls within 7 days of admission. No adverse effects were observed in the treatment group. Our data suggest that squalene could be considered as a potential treatment for COVID-19, and further studies are required to confirm the results.     

Age at natural menopause in Iran

Objectives: Estimation of mean and median age at menopause among Iranian women using a cumulative distribution by region. Methods: The number of 8194 women aged between 30 and 65+ who enrolled in National Health Survey in the year 2000 in Iran through cluster sampling were studied and according to their age and the onset of their menopause (12 month consecutive menstrual cessation), the pattern of age at natural menopause has been described using a cumulative distribution. Results: The median age of menopause has been calculated to be 49.9, 49.2, and 49.6 years in urban, rural, and total population, respectively. While the mean age at menopause in total population was 50.4 years (S.D.=4.3). As it has been shown, the median age of menopause in rural areas (49.2) is earlier than urban areas (49.9). This difference is statistically significant (95% CI: 1.00066, 1.03363). Conclusion: There are different factors influencing age at natural menopause but there are not certain and homogenous results about those factors in different studies. Therefore, it is obvious that exploring these factors in different regions in Iran merit to be done.     

A novel internalization motif regulates human IFN-γ R1 endocytosis

This study tested the hypothesis that the IFN-γ R1 287-YVSLI-91 intracellular motif regulates its endocytosis. IFN-γ exerts its biological activities by interacting with a specific cell-surface RC composed of two IFN-γ R1 and two IFN-γ R2 chains. Following IFN-γ binding and along with the initiation of signal transduction, the ligand and IFN-γ R1 are internalized. Two major types of consensus-sorting signals are described in receptors, which are rapidly internalized from the plasma membrane to intracellular compartments: tyrosine-based and dileucine-based internalization motifs. Transfection of HEK 293 cells and IFN-γ R1-deficient fibroblasts with WT and site-directed, mutagenesis-generated mutant IFN-γ R1 expression vectors helped us to identify region IFN-γ R1 287-YVSLI-291 as the critical domain required for IFN-γ-induced IFN-γ R1 internalization and Y287 and LI290-291 as part of a common structure essential for receptor endocytosis and function. This new endocytosis motif, YxxLI, shares characteristics of tyrosine-based and dileucine-based internalization motifs and is highly conserved in IFN-γ Rs across species. The IFN-γ R1 270-LI-271 dileucine motif, previously thought to be involved in this receptor endocytosis, showed to be unnecessary for receptor endocytosis.     

Molecular characterization of CTX-Mβ-lactamases among Klebsiella pneumoniae isolated from patients at Tehran hospitals

Purpose: Plasmid-encoded CTX-M-group of extended-spectrum β-lactamases (ESBLs) represent a significant and rapidly emerging problem in most part of the world. The aim of the present study was to describe the prevalence of CTX-M producing Klebsiella pneumoniae at Tehran hospitals. Materials and Methods: Clinical isolates of K. pneumoniae (n=250) were collected from 10 hospitals of Tehran. Susceptibility to antimicrobial agents, MIC of cefotaxime and ESBLs production of collected isolates were detected. All ESBL-producing isolates were screened for bla_CTX-M genes using PCR and DNA sequencing. Molecular typing of bla_CTX-M harboring isolates was performed by Pulsed–field gel electrophoresis assay. Results: Of 250 K. pneumoniae clinical isolates, 102 isolates revealed ESBLs – phenotype. PCR assay and sequencing detected bla_CTX-M genes in 71.5% (n= 73) of ESBL-producing isolates. The prevalence of CTX-M -I and CTX-M-III clusters among these isolates was 35.61% (n=26) and 21.9 % (n=16) respectively. Coexistence of CTX-M -I and CTX-M-III clusters was found among 42.5% (n= 31) of isolates. Of 102 isolates that were positive in the phenotypic confirmatory test (PCT), 29 isolates (28.4%) did not produce any amplicons in PCR for bla_CTX-M gene. The results of PCR for CTX-M -II and CTX-M-IV clusters were also negative. Analysis of the 31 CTX-M producing K. pneumoniae isolates by PFGE typing showed 26 distinct patterns. Conclusions: The bla_CTX-M genes are widespread among Iranian isolates of K. pneumoniae. PFGE demonstrated the high diversity of K. pneumoniae harboring bla_CTX-M in our study.     

Intrathoracic gastric fistula after bariatric surgery: a systematic review and pooled analysis

Even in the hands of highly experienced bariatric surgeons, perioperative complications are inevitable. Of these, leaks and fistulas are amongst the scariest complications. Intrathoracic gastric fistulas (ITGF) can be associated with serious morbidity, mostly when cases are misdiagnosed or detected with delay. This is a systematic review of the literature to investigate the clinical and surgical outcomes of morbidly obese adult patients with a confirmed diagnosis of ITGF following bariatric surgery. A pooled analysis of 25 articles, encompassing 76 patients with post-bariatric ITGF, showed that the clinical outcome depends on the initial presentation, timing of the diagnosis in relation to symptom onset, and prompt and effective treatment. Any septic or unstable patient must undergo urgent surgical intervention, while stable patients might tolerate a step-up approach and watchful waiting for nonsurgical treatment. Among those who undergo surgery, treatment failure and the mortality rate are substantially high. Contingent upon a prompt management strategy, patients with postbariatric ITGF can generally have a favorable outcome in the long term.     

Antibody-dependent natural killer cell-mediated growth inhibition of Cryptococcus neoformans.

Previous data from this laboratory indicate that normal murine nylon wool nonadherent splenic cells with characteristics of natural killer (NK) cells effectively inhibit in vitro growth of Cryptococcus neoformans, a yeastlike pathogen. Since NK cells have been shown to be involved in antibody-dependent, cell-mediated cytotoxicity against immunoglobulin G (IgG)-coated tumor cells and xenogenic erythrocytes, we were interested in assessing the effects of the IgG fraction of rabbit anticryptococcal serum on NK cell-mediated inhibition of C. neoformans growth. Early in the study it became apparent that the conventional method of determining the numbers of CFU that was used previously for assessment of viable cryptococci at the end of the growth inhibition assay was not reliable for these studies, owing to minor clumping of the organisms in the presence of anticryptococcal antibody. Therefore, the BACTEC radiometric system was evaluated and determined to be a reliable replacement for the CFU count method. Using the BACTEC methodology, we showed that the anticryptococcal antibody significantly augmented the in vitro ability of NK cells to inhibit the growth of C. neoformans compared with normal rabbit serum or tissue culture medium. Furthermore, the antibody alone did not have an adverse effect on the organism, confirming that reduced growth indices obtained from test wells containing antibody, NK cells, and cryptococci were due to the effects of the NK cells. Maximum anticryptococcal activity of the NK cells was observed in the presence of 16 micrograms of IgG per ml; however, significant augmentation of anticryptococcal activity was seen with antibody concentrations as low as 3 micrograms/ml. Using different populations of murine splenic cells which had varying degrees of NK cell activity, we were able to show that NK cell activities, as determined by 51Cr release from YAC-1 targets, directly correlated with antibody-dependent, cell-mediated growth inhibition against cryptococci, suggesting that NK cells were effector cells in the antibody-dependent assays. Furthermore, in every case, the antibody-dependent activity of NK cells against C. neoformans was higher than the spontaneous activity of NK cells against the organism, emphasizing that NK cell activity against cryptococci can be augmented by specific antibody. When NK cell numbers were enriched by Percoll fractionation of nylon wool nonadherent splenic cells, antibody-dependent and spontaneous growth inhibitory activities of the effector cells were concomitantly augmented, confirming that NK cells were the effector cells in antibody-dependent growth inhibition of cryptococci.(ABSTRACT TRUNCATED AT 400 WORDS)     

The Efficacy of Gabapentin versus Stabilization Splint in Management of Sleep Bruxism

Purpose : This study aimed to determine if the use of gabapentin is more efficacious than a stabilization splint with regard to the intensity of masseter muscle contractions and/or sleep quality for patients experiencing sleep bruxism (SB). Materials and Methods : Twenty patients with SB participated in this clinical study. They were randomly divided into two treatment groups: stabilization splint group (n = 10) and gabapentin group (n = 10). The first polysomnographic examination was performed before the beginning of the experiment for all the participants. At the end of a 2‐month period of stabilization splint therapy or gabapentin usage, a second polysomnographic recording was made. Results : Statistically significant reductions in the number of SB episodes per hour and per night, bruxism time index, total duration of SB episodes per night and number of SB episodes in stages NR I and NR II (p < 0.05) were observed in both groups after treatment. Both treatments significantly reduced the mean intensity of masseter muscle contractions during SB episodes. Moreover, the participants treated with gabapentin showed a significant improvement in total sleep time, slow wave sleep (stage III), and sleep efficiency (p < 0.05). Conclusions : Gabapentin could be an effective treatment modality in SBs, especially in those with poor sleep quality.     

Lack of association between synapsin II (SYN2) gene polymorphism and susceptibility epilepsy: a case-control study and meta-analysis

Objective: The SYN2 rs3773364 A>G polymorphism has been proposed to be involved in susceptibility to epilepsy, but research results have been inconclusive. The aim of this study was to investigate the association between the SYN2 rs3773364 A>G polymorphism and susceptibility against epilepsy in a case–control study and a meta‐analysis. Methods: The SYN2 rs3773364 A>G polymorphism was successfully genotyped in 1182 samples (618 epilepsy patients) of Chinese, Indian, and Malay ethnicities. Meta‐analysis of the related studies, including this case–control study, was performed under alternative genetic models. Results: Data from the case–control study indicated no allelic and genotypic association of this locus with susceptibility to epilepsy in the tri‐ethnic Malaysian population. Similar finding was obtained by stratified analysis by epilepsy syndrome for idiopathic epilepsy. These results were verified by meta‐analysis of the related pooled data. Conclusions: Our study indicated that SYN2 rs3773364 A>G polymorphism is not a risk factor for susceptibility to epilepsy. Synapse 2011. © 2011 Wiley‐Liss, Inc.     

Role of Helicobacter pylori in common rosacea subtypes: A genotypic comparative study of Egyptian patients

Helicobacter pylori was incriminated as an etiological factor of rosacea. However, there is still controversy about this association. We conducted a comparative study in order to assess the role of H. pylori in rosacea patients who had dyspeptic symptoms. The study included 68 patients and 54 controls. Screening for H. pylori was performed and positive cases were referred for gastric endoscopy. The inflammatory response and bacterial density were evaluated in gastric biopsy. H. pylori vacA alleles, cagA and iceA genotypes were assessed by polymerase chain reaction. We found that 49 rosacea (72%) and 25 controls (46.3%) were infected with H. pylori. Thirty‐one rosacea cases were papulopustular (PPR) while 18 were erythematotelangiectatic (ETR). Gastric ulceration was higher in PPR cases (38.7%) than ETR (11.1%) and controls (12%). A significant inflammatory reaction was observed more in PPR cases (74.2%) compared with 44.4% in ETR (P = 0.04) and 44% in controls (P = 0.02). Analysis of H. pylori genotypes revealed that vacA s1m1 was more identified in PPR cases (54.8%) compared with 22.2% in ETR (P = 0.03) and 16% in controls (P = 0.003). There was a significant elevation of cagA/vacA s1m1 positivity in PPR cases. After the eradication regimen of H. pylori, a significant improvement (P < 0.05) was observed in 15 out of 27 PPR cases (55.6%) compared with three out of 17 ETR (17.6%). We concluded that H. pylori has a significant role in rosacea patients who had dyspeptic symptoms. The PPR type is more influenced by H. pylori and this is regarded as being because of certain virulent strains that increase the inflammatory response in gastric mucosa and also in cutaneous lesions.