Frequency of Genital Involvement in Women with Oral Lichen Planus in Southern Iran

Background. Lichen Planus is a chronic mucocutaneous disease of immunological basis and unknown etiology. women with oral lichen planus may have concomitant manifestations in vulvovaginal areas. Objective. To determine the frequency and risk factors of genital involvement in a group of Iranian women affected by oral lichen planus. Methods. Thirty-six women with clinical and histopathological diagnosis of oral lichen planus were evaluated for demographic, historical, and clinical parameters of the oral disease. All the patients were referred for careful vulvovaginal examination, as well as histopathological assessment upon clinical indication. Results. Nineteen patients complained from genital symptoms but the number of women with the final diagnosis of genital lichen planus (n = 2) was too small to show any correlation with the parameters evaluated. Conclusion. In spite of low genital involvement possibly due to inadequate patient population, lack of follow-up visits, and contribution of genetic or ethnic factors, for conservative patient care, women with the oral lichen planus in particular those having some relevant genital symptoms, should preferably be referred for careful vulvovaginal examination. Multicenter cohort studies on women of different geographical regions or ethnicities who have genital lichen planus alone or in combination with other common sites are encouraged

A novel mutation in SEPN1 causing rigid spine muscular dystrophy 1: A Case report

Abstract Background Muscular dystrophies are a clinically and genetically heterogeneous group of disorders characterized by variable degrees of progressive muscle degeneration and weakness. There is a wide variability in the age of onset, symptoms and rate of progression in subtypes of these disorders. Herein, we present the results of our study conducted to identify the pathogenic genetic variation involved in our patient affected by rigid spine muscular dystrophy. Case presentation A 14-year-old boy, product of a first-cousin marriage, was enrolled in our study with failure to thrive, fatigue, muscular dystrophy, generalized muscular atrophy, kyphoscoliosis, and flexion contracture of the knees and elbows. Whole-exome sequencing (WES) was carried out on the DNA of the patient to investigate all coding regions and uncovered a novel, homozygous missense mutation in SEPN1 gene (c. 1379 C > T, p.Ser460Phe). This mutation has not been reported before in different public variant databases and also our database (BayanGene), so it is classified as a variation of unknown significance (VUS). Subsequently, it was confirmed that the novel variation was homozygous in our patient and heterozygous in his parents. Different bioinformatics tools showed the damaging effects of the variant on protein. Multiple sequence alignment using BLASTP on ExPASy and WebLogo, revealed the conservation of the mutated residue. Conclusion We reported a novel homozygous mutation in SEPN1 gene that expands our understanding of rigid spine muscular dystrophy. Although bioinformatics analyses of results were in favor of the pathogenicity of the mutation, functional studies are needed to establish the pathogenicity of the variant

Vertical Transmission of Coronavirus Disease 19 (COVID-19) from Infected Pregnant Mothers to Neonates: A Review

Background: Since early December 2019, the Coronavirus Disease 19 (COVID-19) infection has been prevalent in China and eventually spread to other countries. There are a few published cases of COVID-19 occurring during pregnancy and due the possibility of mother-fetal vertical transmission, there is a concern that the fetuses may be at risk of congenital COVID-19. Methods: We reviewed the risk of vertical transmission of COVID-19 to the fetus of infected mothers by using data of published articles or official websites up to March 4, 2020. Results: A total of 31 infected pregnant mothers with COVID-19 were reported. No COVID-19 infection was detected in their neonates or placentas. Two mothers died from COVID-19-related respiratory complications after delivery. Conclusions: Currently, based on limited data, there is no evidence for intrauterine transmission of COVID-19 from infected pregnant women to their fetuses. Mothers may be at increased risk for more severe respiratory complications. © 2020, © 2020 Taylor & Francis Group, LLC

Proportion and mortality of Iranian diabetes mellitus, chronic kidney disease, hypertension and cardiovascular disease patients with COVID-19: a meta-analysis

Background: Currently, the number of patients with SARS-COV-2 infection has increased rapidly in Iran, but the risk and mortality of SARS-COV-2 infection in Iranian patients with diabetes mellitus (DM), chronic kidney disease (CKD), hypertension and cardiovascular diseases (CVDs) still not clear. The aim of this meta-analysis was to estimate the proportion and mortality of SARS-COV-2 in these patients. Methods: A comprehensive literature search was carried out in PubMed, Web of Sciences, Cochrane Library, EMBASE, CNKI, SciELO, and other databases to identify all relevant studies published up to 10 January, 2020. The proportion and mortality in the patients were assessed by odd ratio (OR) and the corresponding 95 confidence interval (95 CI). Results: A total of ten case-series including 11,755 cases with SARS-COV-2 infection and 942 deaths were selected. Among them, there were total of 791 DM patients with 186 deaths, 225 CKD patients with 45 deaths, 790 hypertension cases with 86 deaths, and 471 CVDs cases with 60 deaths. Pooled data revealed that the proportion of SARS-COV-2 infection in the patients with hypertension, DM, CVDs and CKD were 21.1 , 16.3 , 14.0 and 5.0 , respectively. Moreover, the SARS-COV-2 infection were associated with an increased risk of mortality in DM (OR = 0.549, CI 95 0.448�0.671, p � 0.001) and CKD (OR = 0.552, 95 CI 0.367�0.829, p = 0.004) patients, but not hypertension and CVDs. There was no publication bias. Conclusions: Our pooled data showed that the proportion of SARS-COV-2 infection was the highest in the Iranian patients with hypertension (21.1 ) followed by DM (16.3 ), CVDs (14.0 ) and CKD (5.0 ). Moreover, DM and CKD in patients with SARS-COV-2 infection were associated with a 0.549 and 0.552-fold increase in mortality, respectively. Clinicians in Iran should be aware of these findings, to identifying patients at higher risk and inform interventions to reduce the risk of death. Moreover, well-designed, large-scale and multicenter studies are needed to improve and validate our findings. © 2021, Springer Nature Switzerland AG

Phylogenomics reveals the basis of adaptation of Pseudorhizobium species to extreme environments and supports a taxonomic revision of the genus

The family Rhizobiaceae includes many genera of soil bacteria, often isolated for their association with plants. Herein, we investigate the genomic diversity of a group of Rhizobium species and unclassified strains isolated from atypical environments, including seawater, rock matrix or polluted soil. Based on whole-genome similarity and core genome phylogeny, we show that this group corresponds to the genus Pseudorhizobium. We thus reclassify Rhizobium halotolerans, R. marinum, R. flavum and R. endolithicum as P. halotolerans sp. nov., P. marinum comb. nov., P. flavum comb. nov. and P. endolithicum comb. nov., respectively, and show that P. pelagicum is a synonym of P. marinum. We also delineate a new chemolithoautotroph species, P. banfieldiae sp. nov., whose type strain is NT-26 (=DSM 106348 =CFBP 8663 ). This genome-based classification was supported by a chemotaxonomic comparison, with increasing taxonomic resolution provided by fatty acid, protein and metabolic profiles. In addition, we used a phylogenetic approach to infer scenarios of duplication, horizontal transfer and loss for all genes in the Pseudorhizobium pangenome. We thus identify the key functions associated with the diversification of each species and higher clades, shedding light on the mechanisms of adaptation to their respective ecological niches. Respiratory proteins acquired at the origin of Pseudorhizobium were combined with clade-specific genes to enable different strategies for detoxification and nutrition in harsh, nutrient-poor environments. [Abstract copyright: Copyright © 2020 The Author(s). Published by Elsevier GmbH.. All rights reserved.

Twenty-first-century projections of shoreline change along inlet-interrupted coastlines

Sandy coastlines adjacent to tidal inlets are highly dynamic and widespread landforms, where large changes are expected due to climatic and anthropogenic influences. To adequately assess these important changes, both oceanic (e.g., sea-level rise) and terrestrial (e.g., fluvial sediment supply) processes that govern the local sediment budget must be considered. Here, we present novel projections of shoreline change adjacent to 41 tidal inlets around the world, using a probabilistic, reduced complexity, system-based model that considers catchment-estuary-coastal systems in a holistic way. Under the RCP 8.5 scenario, retreat dominates (90% of cases) over the twenty-first century, with projections exceeding 100 m of retreat in two-thirds of cases. However, the remaining systems are projected to accrete under the same scenario, reflecting fluvial influence. This diverse range of response compared to earlier methods implies that erosion hazards at inlet-interrupted coasts have been inadequately characterised to date. The methods used here need to be applied widely to support evidence-based coastal adaptation

Cigarette Smoke-Related Hydroquinone Dysregulates MCP-1, VEGF and PEDF Expression in Retinal Pigment Epithelium in Vitro and in Vivo

Age-related macular degeneration (AMD) is the leading cause of legal blindness in the elderly population. Debris (termed drusen) below the retinal pigment epithelium (RPE) have been recognized as a risk factor for dry AMD and its progression to wet AMD, which is characterized by choroidal neovascularization (CNV). The underlying mechanism of how drusen might elicit CNV remains undefined. Cigarette smoking, oxidative damage to the RPE and inflammation are postulated to be involved in the pathophysiology of the disease. To better understand the cellular mechanism(s) linking oxidative stress and inflammation to AMD, we examined the expression of pro-inflammatory monocyte chemoattractant protein-1 (MCP-1), pro-angiogenic vascular endothelial growth factor (VEGF) and anti-angiogenic pigment epithelial derived factor (PEDF) in RPE from smoker patients with AMD. We also evaluated the effects of hydroquinone (HQ), a major pro-oxidant in cigarette smoke on MCP-1, VEGF and PEDF expression in cultured ARPE-19 cells and RPE/choroids from C57BL/6 mice.MCP-1, VEGF and PEDF expression was examined by real-time PCR, Western blot, and ELISA. Low levels of MCP-1 protein were detected in RPE from AMD smoker patients relative to controls. Both MCP-1 mRNA and protein were downregulated in ARPE-19 cells and RPE/choroids from C57BL/6 mice after 5 days and 3 weeks of exposure to HQ-induced oxidative injury. VEGF protein expression was increased and PEDF protein expression was decreased in RPE from smoker patients with AMD versus controls resulting in increased VEGF/PEDF ratio. Treatment with HQ for 5 days and 3 weeks increased the VEGF/PEDF ratio in vitro and in vivo.We propose that impaired RPE-derived MCP-1-mediated scavenging macrophages recruitment and phagocytosis might lead to incomplete clearance of proinflammatory debris and infiltration of proangiogenic macrophages which along with increased VEGF/PEDF ratio favoring angiogenesis might promote drusen accumulation and progression to CNV in smoker patients with dry AMD