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Masomeh Hajishafiha1, Mohammad Ghasemi-rad1, Aishe Memari1, Siamak Naji1, Nikol Mladkova2, Vida Saeedi1 1Urmia University of Medical Sciences, Urmia, Iran; 2Institute of Cell and Molecular Science, London, UK Background: There is a need to elucidate what affects the implantation and early pregnancy course in pregnancies conceived with assisted reproductive technology (ART) so that pregnancy rates and outcomes can be improved. Our aim was to determine the role of maternal Helicobacter pylori infection. Material and methods: We did a prospective study of 187 infertile couples undergoing intracytoplasmic sperm injection (ICSI) and segregated those according to underlying infertility etiology. We assessed the status of H. pylori IgG antibodies and anti-CagA IgG antibodies by ELISA assay. All pregnancies were followed for early pregnancy loss (EPL, first 12 weeks). Results: The likelihood of H. pylori infection increased with age (1.01, 95% confidence interval [CI]: 1.0–1.13; P = 0.040) but there was no association with EPL. Women infected with CagA-positive strains were more likely to have EPL (19.39, 95% CI: 1.8–208.4; P = 0.014). Women with tubal factor or ovulatory disorder infertility were more likely to abort early (12.95, 95% CI: 1.28–131.11; P = 0.030, 10.84, 95% CI: 1.47–80.03; P = 0.020, respectively). There was no association between EPL and age, number of embryos formed or transferred, or number of oocytes retrieved. Conclusion: Our findings suggest that infection with CagA-positive H. pylori strains is linked to an increase in women's potential to abort early (possibly through increased release of inflammatory cytokines). In addition, tubal factor and ovulatory disorder infertility are linked to EPL after ICSI due to unknown mechanisms. Proposals to eradicate H. pylori infection prior to ICSI could lead to a decrease in EPL after ART.Keywords: Helicobacter pylori, early pregnancy loss, early abortion, infertility, intracytoplasmic sperm injection, CagA

This study aimed to investigate the prevalence of insulin autoantibody (IAA), glutamic acid decarboxylase antibody (GADA), and insulinoma-associated antigen-2 antibody (IA-2A) in type 1 diabetes (T1D) children based on the presence of predisposing HLA-II alleles. Additionally, to assess the sequence homology between autoantigens of islet cells and selected proteins derived from gut bacteria in terms of their binding capacities to HLA risk alleles, HLA-DRB1/DQB1 alleles were determined by PCR-SSOP in 111 T1D children (probands) along with 222 parents and 133 siblings. Autoantibodies were measured by ELISA, and in silico analysis was run as follows: protein extraction, homology and epitope prediction, peptide alignment, and HLA-peptide docking. Higher significant frequencies of DRB1*03:01, DQB1*02:01, and DQB1*03:02 alleles and DRB1*03:01 ~ DQB1*02:01 haplotype and lower frequencies of DRB1*11:01, DRB1*14:01, and DQB1*03:01 alleles were found in probands compared to parents and siblings. DRB1*11:01 ~ DQB1*03:01, DRB1*14:01 ~ DQB1*05:03, and DRB1*15:01-DQB1*06:02 haplotypes were significantly less frequent in the probands compared to parents. Out of 111 probands, 21 were seronegative, 90 tested positive for one autoantibody, and 15 showed the concurrent presence of three autoantibodies. Logistic regression analysis revealed that DRB1*04 ~ DQB1*03:02 haplotype was associated with the induction of GADA and IA-2A, while DRB1*11:01 ~ DQB1*03:01 was associated with seronegativity. Epitopes derived from GAD and gut bacteria showed strong binding capacities to HLA risk alleles. Due to the sequence similarities between gut bacteria-derived proteins and islet cell autoantigens and their potential for binding to HLA risk alleles, dysbiosis of gut microbiota can be considered another risk factor for the development of T1D, especially in genetically susceptible individuals., (© 2024. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.)

Background: This systematic review aims to comprehensively assess the diagnostic accuracy of cognitive screening tools validated for older adults in Iran, providing evidence-based recommendations for clinicians and researchers., Methods: A comprehensive search in March 2023 across Web of Science, PubMed, Scopus, ScienceDirect, SID, IranMedex, and IranDoc, enhanced by hand-searching references and Google Scholar, identified cross-sectional studies on cognitive screening in Iranian seniors. We assessed diagnostic accuracy, cognitive domains, and test strengths and weaknesses. A bivariate random-effects meta-analysis provided summary estimates and 95% confidence intervals, illustrated in forest plots., Results: Our review, derived from an initial screening of 38 articles, focused on 17 studies involving 14 cognitive screening tools and participant counts from 60 to 350, mostly from specialized clinics. The MMSE was the only tool examined in at least three studies, prompting a meta-analysis revealing its sensitivity at 0.89 and specificity at 0.77 for dementia detection, albeit amidst significant heterogeneity (I^2 > 80%). ACE-III demonstrated the highest diagnostic accuracy for MCI and dementia, while MoCA's performance was deemed adequate for MCI and excellent for dementia. High bias risk in studies limits interpretation., Conclusion: This review identifies key cognitive tools for dementia and MCI in Iranian older adults, tailored to educational levels for use in primary and specialized care. It emphasizes the need for further validation to enhance diagnostic precision across diverse settings, within a concise framework prioritizing brevity and accuracy for clinical applicability., (© 2024. The Author(s).)

This family-based study was conducted in a group of Iranians with Type 1 diabetes (T1D) to investigate the transmission from parents of risk and non-risk HLA alleles and haplotypes, and to estimate the genetic risk score for this disease within this population. A total of 240 T1D subjects including 111 parent-child trios (111 children with T1D, 133 siblings, and 222 parents) and 330 ethnically matched healthy individuals were recruited. High-resolution HLA typing for DRB1/DQB1 loci was performed for all study subjects (n = 925) using polymerase chain reaction-sequence-specific oligonucleotide probe method. The highest predisposing effect on developing T1D was conferred by the following haplotypes both in all subjects and in probands compared to controls: DRB1*04:05-DQB1*03:02 (Pc = 2.97e-06 and Pc = 6.04e-10, respectively), DRB1*04:02-DQB1*03:02 (Pc = 5.94e-17 and Pc = 3.86e-09, respectively), and DRB1*03:01-DQB1*02:01 (Pc = 8.26e-29 and Pc = 6.56e-16, respectively). Conversely, the major protective haplotypes included DRB1*13:01-DQB1*06:03 (Pc = 6.99e-08), DRB1*15:01-DQB1*06:02 (Pc = 2.97e-06) in the cases versus controls. Also, DRB1*03:01-DQB1*02:01/DRB1*04:02|05-DQB1*03:02 and DRB1*03:01-DQB1*02:01/DRB1*03:01-DQB1*02:01 diplotypes conferred the highest predisposing effect in the cases (Pc = 8.65e-17 and Pc = 6.26e-08, respectively) and in probands (Pc = 5.4e-15 and Pc = 0.001, respectively) compared to controls. Transmission disequilibrium test showed that the highest risk was conferred by DRB1*04:02-DQB1*03:02 (Pc = 3.26e-05) and DRB1*03:01-DQB1*02:01 (Pc = 1.78e-12) haplotypes and the highest protection by DRB1*14:01-DQB1*05:03 (Pc = 8.66e-05), DRB1*15:01-DQB1*06:02 (Pc = 0.002), and DRB1*11:01-DQB1*03:01 (Pc = 0.0003) haplotypes. Based on logistic regression analysis, carriage of risk haplotypes increased the risk of T1D development 24.5 times in the Iranian population (p = 5.61e-13). Also, receiver operating characteristic curve analysis revealed a high predictive power of those risk haplotypes in discrimination of susceptible from healthy individuals (area under curve: 0.88, p = 5.5e-32). Our study highlights the potential utility of genetic risk assessment based on HLA diplotypes for predicting T1D risk in individuals, particularly among family members of affected children in our population., (© 2024 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.)

Background: Pompe disease, classified as glycogen storage disease type II, arises from a deficiency in the acid alpha-glucosidase (GAA) enzyme, leading to glycogen accumulation in multiple tissues. The unique correlation between genotype and enzyme activity is a key feature. This case highlights an infantile-onset form, emphasizing genetic counseling and prenatal testing importance., Case Presentation: An 18-week-old infant with respiratory distress, cyanosis, and fever was admitted. Born healthy, her sibling died from Pompe disease. She presented with cardiomegaly, hypotonia, and absent reflexes. Diagnosis was confirmed by significantly reduced GAA activity. Despite treatment initiation, the patient succumbed to cardiac arrest., Conclusions: The case underscores genetic counseling's role, offering insights into prenatal testing advancements, antenatal diagnosis through echocardiography, and the significance of early intervention, particularly in infantile-onset Pompe disease., Synopsis: Genetic risk assessment and prenatal testing are crucial for families with a history of Pompe disease to improve early diagnosis and management outcomes., (© 2024. The Author(s).)

Background: Obesity is now well-recognized as an independent risk factor for cognitive decline. Although extensive research has been conducted on cognitive outcomes following bariatric surgery in young adults, very little is known about the impact of advanced age on the cognitive benefits of weight-loss procedures., Objectives: This study aimed to assess cognitive function in older Iranian patients before and after bariatric surgery., Setting: University Hospital METHODS: In this prospective longitudinal study, 24 older adults were examined before and 4 months after bariatric surgery using the Digit Span Test (DGS), the computerized version of the Wisconsin Card Sorting Test-64 (WCST-64), and the paper-and-pencil versions of the Trail Making Test (TMT), parts A and B, spanning the 4 cognitive domains of attention, working memory, processing speed, and executive functioning. The bariatric surgery group was simultaneously compared to a waiting list control group., Results: At 4 months of follow-up, comparisons between the groups revealed that the surgical group performed significantly better than the control group on the forward DGS, WCST, and TMT parts A and B. In contrast, there was no significant difference between groups on the backward DGS. Further within-group comparisons demonstrated significant improvements from baseline in forward DGS, WCST, and TMT components A and B. Nevertheless, the same variables did not alter significantly over time in the control group., Conclusions: The study suggests measurable cognitive benefits following bariatric surgery in older adults., (Copyright © 2023 American Society for Metabolic and Bariatric Surgery. Published by Elsevier Inc. All rights reserved.)

Background: Sestrin2 and beclin1 are two newly found proteins that have essential roles in autophagy. This study attempted to evaluate the plasma concentrations of sestrin2 and beclin1 in women with polycystic ovary syndrome (PCOS) and healthy controls and to explore the clinical value of these proteins as novel biomarkers for PCOS., Methods: In this case-control study, plasma levels of sestrin2 and beclin1, fasting blood sugar (FBS), lipid profile, insulin, and androgens were evaluated in 63 women (31 patients and 32 controls). Sestrin2 and beclin1 levels were determined using enzyme-linked immunosorbent assay (ELISA). Descriptive statistics, correlation coefficients, logistic regression, and ROC curve analyses were used in this study., Results: Plasma sestrin2 levels of the subjects with PCOS (40.74 [24.39-257.70]) were significantly lower than those of healthy subjects (255.78 [25.46-528.66]; p-value = 0.040). ROC curve analysis showed that a cutoff value of 420.5 ng/L had an appropriate sensitivity (83.87%) and specificity (46.88%) for discriminating individuals with and without PCOS, with the area under the curve (95% CI) of 0.648 (0.518 to 0.764), p = 0.036. There were no statistically significant differences between the two groups concerning plasma levels of beclin1, biochemical parameters, blood pressure, and anthropometric features., Conclusion: Our findings highlight the dysregulation of sestrin2 as a marker of autophagy in PCOS and its potential usefulness as a novel biomarker for PCOS. Further research is needed to better understand the role of this protein in the pathophysiology of PCOS and its value as a diagnostic tool for the evaluation of PCOS patients., (© 2021 The Authors. Journal of Clinical Laboratory Analysis published by Wiley Periodicals LLC.)