GJB2 mutations: passage through Iran

Hereditary hearing loss (HHL) is a very common disorder. When inherited in an autosomal recessive manner, it typically presents as an isolated finding. Interestingly and unexpectedly, in spite of extreme heterogeneity, mutations in one gene, GJB2, are the most common cause of congenital severe-to-profound deafness in many different populations. In this study, we assessed the contributions made by GJB2 mutations and chromosome 13 g.1777179_2085947del (the deletion more commonly known as del (GJB6-D13S1830) that includes a portion of GJB6 and is hereafter called Delta(GJB6-D13S1830)) to the autosomal recessive non-syndromic deafness (ARNSD) genetic load in Iran. Probands from 664 different nuclear families were investigated. GJB2-related deafness was found in 111 families (16.7%). The carrier frequency of the 35delG mutation showed a geographic variation that is supported by studies in neighboring countries. Delta(GJB6-D13S1830) was not found. Our prevalence data for GJB2-related deafness reveal a geographic pattern that mirrors the south-to-north European gradient and supports a founder effect in southeastern Europe.     

Online health communities,contributions to caregivers and resilience of older adults

The aim of this paper is twofold. Firstly, to investigate the potential benefits of online health communities (OHCs) for informal caregivers by conducting a systematic literature review. Secondly, to identify the relationship between the potential benefits of OHCs and resilience factors of older adults. Performing a thematic analysis, we identified the potential benefits of OHCs for informal caregivers of older adults, including two salient themes: (a) caregivers sharing and receiving social support and (b) self and moral empowerment of caregivers. Then, we uncovered how these potential benefits can support resilience of older adults. Our findings show that sharing and receiving of social support by informal caregivers, and self and moral empowerment of informal caregivers in OHCs, can support four resilience factors among older adults, including self-care, independence, altruism and external connections. This review enables a better understanding of OHCs and Gerontology, and our outcomes also challenge the way healthcare and aged-care service providers view caregivers and older adults. Furthermore, the identified gap and opportunities would provide avenues for further research in OHCs.     

Immunotherapeutic targets in non-small cell lung cancer

Non-small cell lung cancer (NSCLC) is one of the most common types of cancer in the world and has a 5-year survival rate of ~20%. Immunotherapies have shown promising results leading to durable responses, however, they are only effective for a subset of patients. To determine the best therapeutic approach, a thorough and in-depth profiling of the tumour microenvironment (TME) is required. The TME is a complex network of cell types that form an interconnected network, promoting tumour cell initiation, growth and dissemination. The stroma, immune cells and endothelial cells that comprise the TME generate a plethora of cytotoxic or cytoprotective signalling pathways. In this review, we discuss immunotherapeutic targets in NSCLC tumours and how the TME may influence patients' response to immunotherapy.     

Central auditory processing and word discrimination in patients with multiple sclerosis

Many multiple sclerosis (MS) patients with normal pure tone threshold suffer from difficulties in their hearing especially speech perception in background noise, which is possibly because of incompetence of central auditory processing in this group. Three audiologic tests including gap in noise test (GIN), duration pattern sequence test (DPST) and word discrimination score (WDS) were used for comparing a number of aspects of central auditory processing between patients with MS and normal subjects. Approximate threshold and percent of correct answers in GIN test, percent of correct answers in DPST test and monosyllabic discrimination in WDS test were obtained through cross-sectional non-invasive study conducted on 26 subjects with relapsing-remitting multiple sclerosis who had mean age of 28.9 (SD 4.1) years, and 26 18–40-year-old ones with normal hearing and mean age of 27.7 (SD 5.2). Results of this study demonstrate increased approximate threshold and reduction of percent of correct answers obtained from GIN test in patients with multiple sclerosis (Pv = 0.0001). Furthermore in patients with MS, the average of correct answers in DPST was lower than normal subjects and finally performance of MS subjects in WDS test in quiet environment was correlated with GIN threshold (r = ?/624, Pr = /003). Results of the present study showed that patients with MS had defect in aspects of central auditory processing consisting of temporal resolution, auditory pattern and the memory for auditory task and difficulty in discrimination of speech in noisy environment that are related to the involvement of central nervous system.     

Aneurysm formation of pericardial patch in Manouguian procedure

Pericardial patch has been used to repair cardiac defects; however, its strength as an aortoplasty patch to tolerate systemic pressure is a matter of debate. We report an aneurysmal dilatation of pericardial patch in aortoplasty. Our patient was a 56-year-old female known case of rheumatic heart disease that underwent redoes mitral and aortic valve replacements along with Manouguian aortoplasty at the age of 44?years old. After 2?months, she was readmitted with a diagnosis of endocarditis. Echocardiography revealed a small cavity in the posterior wall of the aorta. She responded to medical therapy and discharged in a good condition. Twelve years later, she was scheduled to undergo reoperation due to a severe paraprosthetic aortic valve leakage and a pericardial patch aneurysm. The leaking prosthetic aortic valve was explanted and the aneurysmal tissue was replaced with a polyethylene terephthalate patch.