Mutation screening of 3’UTR and exons 1-2 of vsx1 gene by PCR-SSCP/HA and sequencing in patients with Vernal Keratoconjuctivis (VKC) in Shahrekord

Background and Objective: Vernal Keratoconjuctivis is an immune response in relation to environmental antigens, leading to inflammation of the conjunctiva. One of the presumable genetic factors in VKC is VSX1 gene. In this study, mutations in exon 1, exon 2 and 3'UTR of VSX1 gene in patients with VKC in Shahrekord were investigated by PCR-SSCP and PCR-HA. Materials and Methods: In this cross- sectional study, peripheral blood samples of 100 patients with VKC and 100 individuals with no confirmed eye disease as control group were investigated. Genomic DNA was extracted by phenol-chloroform method and then PCR was carried out. Then, SSCP and HA were performed and the samples with shifted bands were sequenced for the type of nucleotide change. Afterwards, to investigate the observed nucleotide change, RFLP method was used. Results: Our SSCP findings revealed six patients with shifted band in exons 1 and 2 and 13 patients in 3'UTR, which were sequenced for nucleotide change. Analysis of sequencing data showed a frameshift change (g. 25057561delG) in 3'UTR. There was no change in other sequences. Conclusion: The findings of this study showed that, VSX1 gene most probably has no effective role in VKC pathogenesis in the studied population. Therefore, the role of VSX1 genes in VKC pathogens needs further investigation

Mutation analysis of VSX1 gene in vernal keratoconjunctivitis patients

Objectives: Vernal keratoconjunctivitis (VKC) is a multifactorial disease of conjunctiva that usually involves young adults. Heretofore, the role of several genes has been studied in VKC pathogenesis. The aim of this study was to discover new modifications in Visual System Homeobox 1 (VSX1) gene and evaluate their possible correlation with the protein activity and VKC pathogenesis in Iranian patients. Methods: For this cross-sectional study, DNA samples of 100 sporadic patients with VKC and 100 healthy people were analyzed for detection of novel mutations in exon 3, intron 3 and exon 4 of VSX1 gene, using single strand conformation polymorphism (SSCP) and heteroduplex analysis (HA). After DNA sequencing of samples with different SSCP and HA pattern, conservation level and pathogenicity of the detected variations were investigated using bioinformatics software and databases. Results: Sequencing results revealed a (c. 628-31 T > A) g. 25,075,355 T > A variation in intron 3 and a c.697G > A variation in the coding region of exon 4. RFLP results did not confirm the existence of c.697G > A mutation in the control group and this missense variation was recognized as a pathogenic risk factor, using SIFT software (P SIC>2). Conclusion: Since the modified sequence is located within the conserved region, it can be proposed that the detected modification may have an effect on the encoded protein function. Nevertheless, more studies are required for analyzing and evaluating the exact effects of this substitution

Comparing depressive symptoms in teenage boys and girls

Introduction: Symptoms of depression vary between the males and females. Depressed men show behaviors such as irritability, restlessness, difficulty in concentrating, and instead of the usual behaviors. Sleep disturbance is a common symptom in depressed men. Men are less likely to go to doctors and unconsciously show other behaviors such as anger instead of the sadness. It seems that considering depression as “feminine” is a great injustice toward male patients whom their illness will not be diagnosed nor treated. Materials and Methods: The sample consisted of 191 depressed adolescents, 108 males and 83 females aged 13–19 years old. Data collected for 10 years from 2005 to 2015 and their depressive symptoms were evaluated by the Beck Depression Inventory-Second Edition. Results: Depressed girls felt sadness, guilt, punishment, worthlessness, low energy and fatigue, or more asthenia, whereas depressed boys have symptoms such as irritability, depression, suicidal thoughts, or desires to reduce their pleasure. The results of t-test showed that the difference between the total scores of boys and girls with depressive disorder (16.93) is significant at 0.001. F values for feeling sad (58.13), hatred of self (12.38), suicidal thoughts or desires (12.97), restlessness (17.35), and irritability (46. 41) were significant in the 0.001. Conclusion: Experiencing depression in boys and girls according to the role of gender was different. Gender can have an effective role in showing depression symptoms in adolescents

Evaluation of Causes,Frequency and Prognosis of Hydrops Fetalis: A Case- Series Study at a Referral Hospital in Tehran, Iran

Introduction Hydrops Fetalis is a serious condition in fetal period, characterized by the presence of serous fluid accumulation in at least two potential spaces in fetus including pleural effusion, pericardial effusion, and ascites. The incidence of hydrops fetalis is one per 2500-3000 pregnancies. This condition is followed by different diseases. Fetal hemolytic anemia and its hypoxemia due to hydrops fetalis are potentially life or function threatening. Mortality rate is 50-90%; this poor prognosis is improving with advances in prenatal and medical treatment.                   Methods and Materials This study performed on patients’ records with hydrops fetalis diagnosis in one of the neonatal referral and academic center, Vali-e-Asr Hospital Tehran, the capital of Iran from 2003 to 2010. Etiology, prognosis, and frequency of Hydrops fetalis in newborns were evaluated. Results Out of 10878 cases, 0.35% was born with hydrops fetalis:18.42% immune [Rh incompatibility  (%85.71), Kell antigen system(%14.29) ] and 81.58% non-immune. Conclusion The rate of hydrops due to Rh incompatibility is significant in our center (85.71%), however, it is unusual in most of medical centers all over the world

COVID-19 Pandemic is Not Over for Survivors with Long COVID Syndrome: Evidence of a One-Year Retrospective Follow-up Study from Iran

Background: Most patients who are infected by COVID-19 develop recovery from it; however, some of these patients experience a variety of mid-and long-term physical and/or mental effects after their initial illness recovery. These mid and long-term effects are collectively known as post-COVID-19 conditions or “long COVID.” Objectives: We aimed to detect the incidence of long COVID syndrome (LCS) and its determinants. Methods: In this retrospective cohort study, previously hospitalized subjects due to COVID-19 were selected by systematic random sampling. A valid checklist was filled out by phone interview with each participant, while hospitalization data were extracted from hospital information system. Data were analyzed using SPSS software. Results: The mean age of 1,738 interviewees was 54.2 ± 14.5 years. The median time of follow-up was 352 days. Overall, 1,526 (87.8%) interviewees had at least one symptom of LCS. Among physical symptoms, hair loss (23.9%) and among psychological complaints, depression (69.1%) were predominant. Anemia (odds ratio (OR): 3.22, 95% confidence interval (CI): 1.49-6.98), patients of second epidemic wave (OR: 2.82, 95% CI: 1.57-5.07), use of vitamins/minerals (OR: 2.25, 95% CI: 1.53-3.3) or antibiotics (OR: 1.84, 95% CI: 1.02-3.33), diabetes mellitus (OR: 1.9, 95% CI: 1.11-3.23), who were not the head of their families (OR: 1.65, 95% CI: 1.18-2.32) and use of antivirals (OR: 1.64, 95% CI: 1.03-2.61) were significantly associated with LCS. Conclusions: COVID-19 pandemic is not over, and most COVID-19 survivors suffer from LCS. Therefore, the establishment of integrated post-COVID care systems for these patients is highly needed and recommended

SVEP1 as a Genetic Modifier of TEK-Related Primary Congenital Glaucoma

PURPOSE. Affecting children by age 3, primary congenital glaucoma (PCG) can cause debilitating vision loss by the developmental impairment of aqueous drainage resulting in high intraocular pressure (IOP), globe enlargement, and optic neuropathy. TEK haploinsufficiency accounts for 5% of PCG in diverse populations, with low penetrance explained by variable dysgenesis of Schlemm’s canal (SC) in mice. We report eight families with TEK-related PCG, and provide evidence for SVEP1 as a disease modifier in family 8 with a higher penetrance and severity. METHODS. Exome sequencing identified coding/splice site variants with an allele frequency less than 0.0001 (gnomAD). TEK variant effects were assayed in constructtransfected HEK293 cells via detection of autophosphorylated (active) TEK protein. An enucleated eye from an affected member of family 8 was examined via histology. SVEP1 expression in developing outflow tissues was detected by immunofluorescent staining of 7-day mouse anterior segments. SVEP1 stimulation of TEK expression in human umbilical vascular endothelial cells (HUVECs) was measured by TaqMan quantitative PCR. RESULTS. Heterozygous TEK loss-of-function alleles were identified in eight PCG families, with parent–child disease transmission observed in two pedigrees. Family 8 exhibited greater disease penetrance and severity, histology revealed absence of SC in one eye, and SVEP1:p.R997C was identified in four of the five affected individuals. During SC development, SVEP1 is secreted by surrounding tissues. SVEP1:p.R997C abrogates stimulation of TEK expression by HUVECs. CONCLUSIONS. We provide further evidence for PCG caused by TEK haploinsufficiency, affirm autosomal dominant inheritance in two pedigrees, and propose SVEP1 as a modifier of TEK expression during SC development, affecting disease penetrance and severity.Supported by the National Institutes of Health [R01EY014685 to T.Y., R01HL124120, T32DK108738, R01EY025799, and P30DK114857 to S.Q.]; the Research to Prevent Blindness Inc. [Lew R. Wasserman Award to T.Y.]; a University of Wisconsin Centennial Scholars Award [to T.Y.]; the Flinders Foundation and the National Health and Medical Research Council of Australia [APP1116360, APP1107098, and fellowship APP1154824 to J.C.]; the Foundation for Science and Technology, Human Potential Operational Program/European Social Fund [fellowship SFRH/BD/90445/2012 to S.C.]; the Agency for Science Technology and Research, under the Industry Alignment Fund - Pre-Positioning Programme, as part of the Innovations in Food & Chemical Safety Programme [H18/01/a0/b14 to V.L.]; the Ophthalmic Research Center of Shahid Beheshti University of Medical Sciences and the Iran National Science Foundation [940012 to E.E.]; a Core Grant for Vision Research from the National Eye Institute/National Institutes of Health to the University of Wisconsin-Madison [P30EY016665]; and an Unrestricted Grant from Research to Prevent Blindness, Inc. to the UW-Madison Department of Ophthalmology and Visual Sciences. The authors are grateful to the Vanderbilt clinical site of the Undiagnosed Diseases Network for contribution of one individual for this manuscript: John A Phillips III, John H. Newman, Joy Cogan, and Rizwan Hamid; supported in part by the National Institutes of Health Common Fund [UO1HG007674]