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We designed this study to map environmental noise pollution (ENP) around all elementary schools and kindergartens in Tehran using a land use regression (LUR) approach. Out of 135 spatial predictor variables, seven were identified as significant determinants of ENP. The final model demonstrated strong predictive performance, with an R² of 0.70 and an adjusted R² of 0.65. Additionally, the model had a leave-one-out cross-validation (LOOCV) R² of 0.59 and a root mean squared error (RMSE) of 3.15, indicating acceptable predictive accuracy. Among the significant predictors, green space area, and the distances to the nearest terminals, primary roads, and highways had negative effects on ENP, meaning that increases in these variables reduce noise levels around schools and kindergartens. In contrast, the length of secondary roads, the area of commercial parcels, and the distance to military zones had positive effects, suggesting that increases in these variables contributed to higher ENP. Our findings reveal substantial spatial variation in environmental noise levels across Tehran, with the highest ENP values—ranging from 65.1 dB(A) to 85 dB(A)—concentrated primarily in the central, southern, and southeastern districts of the city. Approximately 36%, 30%, and 13% of educational institutions for children in Tehran are exposed to ENP in the range of 70.1–75 dB(A), 65–70 dB(A), and > 75 dB(A), respectively. Only 4% of these institutions are located in areas with ENP < 60 dB(A). Our findings highlight the importance of infrastructure design changes, such as expanding green spaces around schools and kindergartens, or relocating these educational institutions farther from terminals, primary roads, military zones, and commercial areas.

This study developed a strategic framework for electronic waste management in Tehran, Iran’s capital megacity, by integrating SWOT analysis with the Quantitative Strategic Planning Matrix (QSPM). Insights were obtained from a balanced panel of 30 local stakeholders: 15 public-sector officials from Tehran’s Waste Management Organization and 15 managers of private recycling facilities. The QSPM analysis was then employed to prioritize the strategies, identifying six key approaches. The formulation of comprehensive health, safety, and environmental (HSE) regulations for e-waste recycling emerged as the top-priority strategy (Total Attractiveness Score (TAS) = 12.418). Subsequent priorities included optimizing e-waste collection processes (TAS = 10.764) and establishing dedicated e-waste sorting centers (TAS = 10.66). Sensitivity analysis confirmed the stability of this ranking against variations in key factor weights. The study identified significant gaps in supervision, infrastructure, and technical expertise, while also recognizing opportunities presented by Tehran’s high population density and the availability of advanced technologies. To our knowledge, this work represents the first application of an integrated SWOT–QSPM framework to Tehran’s e-waste challenge, offering a novel and replicable model for megacities facing comparable governance complexity and public–private integration barriers. The proposed framework provides municipal policymakers with a practical roadmap, indicating that the integrated SWOT-QSPM approach effectively generates tailored waste management strategies for megacities.

Background Primary hyperparathyroidism (PHPT) and familial hypocalciuric hypercalcemia (FHH) are the most important differential diagnosis of parathyroid hormone (PTH)-dependent hypercalcemia. The clinical features of FHH and PHPT can overlap in some cases. Therefore, these two diseases must be differentiated to prevent unnecessary parathyroidectomy. Here, we present a case that was not entirely matched with any of the known differential diagnoses of hypercalcemia. Case presentation A 19-year-old girl with no history of any disease presented with persistent hypercalcemia without any specific musculoskeletal complaint. We found persistent hypercalcemia in her routine laboratory data from 3 years ago; while no data was available during the childhood period. Her dietary calcium intake was normal. She did not mention any history of renal stone, bone fracture as well as family history of hypercalcemia. Biochemical features showed normal values of serum creatinine, high normal serum calcium (range, 10.3–11.3 mg/dL; (normal range: 8.8–10.4)), and non-suppressed PTH levels (range, 37.2–58.1 pg/mL; (normal range: 10–65)). Serum 25 OH vitamin D level at the first visit was 16.1 ng/mL that treated by vitamin D supplementation. Since then, all 25 OH vitamin D levels were in the acceptable range. After correction of vitamin D deficiency during the follow-up period the calcium creatinine clearance ratio(s) (CCCR) were calculated in the range of 0.009 to 0.014 (means below 1%). The clinical and laboratory data indicate more FHH rather than PHPT. Genetic studies were negative for the common genes associated with FHH ( CASR, GNA11, and AP2S1 genes) and multiple endocrine neoplasia type1 (MEN1). On the other hand, no evidence of autoimmunity was found in her to support an autoimmune FHH-like syndrome. Hence, the case did not match completely to any diagnosis of FHH and PHPT, so we decided to follow her. Conclusion We presented a patient with FHH phenotype whose common genetic tests were negative. Further research is needed to ascertain other causes leading to similar manifestations.

Background Hereditary ichthyosis is a clinically and genetically heterogeneous disorder associated with more than 50 genes with TGM1 , ALOX12B , and ALOXE3 being the most prevalent. Establishing an accurate diagnosis is important for effective genetic counseling and optimal patient management. Objective We studied the diagnostic value of whole exome sequencing (WES) in a small case series with hereditary ichthyosis. Methods During a 1-year period, index cases of 5 unrelated families clinically diagnosed with hereditary ichthyosis went through WES, followed by extensive segregation analysis. Prenatal diagnosis (PND) was conducted where indicated. Results We identified 4 homozygous variants-2 in TGM1 (c.655A > G and c.797A > G) and 2 in ALOX12B (c.527 + 2 T > G and c.1654G > T)-alongside a heterozygous variant in TGM1 (c.428G > A) in 5 families. The variants were all pathogenic/likely pathogenic according to the ACMG classification and segregation analysis, except for c.797A > G in TGM1 which remained a variant of unknown clinical significance. Four variants were novel. All families were referred either during pregnancy or before reproductive planning; 4 benefited from WES as it identified the mutation in the probands and enabled carrier detection in at-risk relatives; PND was conducted in 2 families. Conclusion Our findings further support WES is a powerful tool for the comprehensive, accurate, and rapid molecular diagnosis of hereditary ichthyosis and can offer opportunities for reproductive planning, carrier screening and prenatal diagnosis to at-risk families.

Retinitis pigmentosa (RP) and Leber congenital amaurosis (LCA) are major causes of blindness. They result from mutations in many genes which has long hampered comprehensive genetic analysis. Recently, targeted next-generation sequencing (NGS) has proven useful to overcome this limitation. To uncover \"hidden mutations\" such as copy number variations (CNVs) and mutations in non-coding regions, we extended the use of NGS data by quantitative readout for the exons of 55 RP and LCA genes in 126 patients, and by including non-coding 5' exons. We detected several causative CNVs which were key to the diagnosis in hitherto unsolved constellations, e.g. hemizygous point mutations in consanguineous families, and CNVs complemented apparently monoallelic recessive alleles. Mutations of non-coding exon 1 of EYS revealed its contribution to disease. In view of the high carrier frequency for retinal disease gene mutations in the general population, we considered the overall variant load in each patient to assess if a mutation was causative or reflected accidental carriership in patients with mutations in several genes or with single recessive alleles. For example, truncating mutations in RP1, a gene implicated in both recessive and dominant RP, were causative in biallelic constellations, unrelated to disease when heterozygous on a biallelic mutation background of another gene, or even non-pathogenic if close to the C-terminus. Patients with mutations in several loci were common, but without evidence for di- or oligogenic inheritance. Although the number of targeted genes was low compared to previous studies, the mutation detection rate was highest (70%) which likely results from completeness and depth of coverage, and quantitative data analysis. CNV analysis should routinely be applied in targeted NGS, and mutations in non-coding exons give reason to systematically include 5'-UTRs in disease gene or exome panels. Consideration of all variants is indispensable because even truncating mutations may be misleading.

Background Interstitial Microdeletion and Microduplication syndromes have been proposed as a significant cause of sporadic intellectual disability (ID) but the role of such aberrations in familial ID has not yet been investigated. As the balanced chromosomal abnormalities commonly lead to the recurrent ID or multiple congenital anomalies, this study was designed to evaluate whether it was justified to investigate such aberrations in familial ID patients. Three hundred and twenty eight patients from 101 unrelated Iranian families with more than two ID patients in the first-degree relatives, have been investigated. Assessment of a panel of 21 common Microdeletion and Microduplication syndromes (CMMS) was carried out using Multiplex Ligation-Dependent Probe Amplification (MLPA) technique. Results Among the families studied, 27.7% had 4-12, 35.6% had 3 and 36.6% had 2 affected individuals in the first-degree relatives. An autosomal dominant inheritance of Williams-Beuren syndrome (WBS) was detected in a family with no clinical suspicion of WBS. The prevalence of CMMS was therefore,0.99%. Conclusion This is the first investigation of a panel of CMMS in a large sample set of \"familial ID patients\". The findings of this study showed the low prevalence of CMMSs in \"familial ID\" patients in spite of the significant contribution of such aberrations in \"sporadic ID\" which has a very useful practical impact by avoiding unnecessary diagnostic tests in \"familial ID\" patients.

Background Cryptic subtelomeric rearrangements have been proposed as a significant cause of sporadic intellectual disability (ID) but the role of such aberrations in familial ID has not yet been studied. As positive family history of ID had been proposed as an important and significant predicting factor of subtelomeric rearrangements, it was assumed that the contribution of subtelomeric aberrations in familial ID would be much more than the sporadic ones. Three hundred and twenty two patients from 102 unrelated families with more than two ID patients in the first degree relatives have been investigated. Assessment of subtelomeric rearrangements were carried out using Multiplex Ligation-Dependent Probe Amplification (MLPA) technique. Detected aberrations were then confirmed by Fluorescence in Situ Hybridization (FISH) method. Results Among the families studied, 27.4% had 4-12, 36.3% had 3 and 36.3% had 2 affected individuals in the first degree relatives. One unbalanced translocation and 4 polymorphic changes were detected. The prevalence of clinically significant subtelomeric rearrangements was 0.98%. Conclusion This is the first investigation of subtelomeric aberrations in a large sample set of familial ID patients. Our results show that the contribution of subtelomeric rearrangements to familial ID is not as much as what had been determined for sporadic ones in the literature. Moreover, this study shows that the positive family history by alone, cannot be the most important and determining indicator of subtelomeric aberrations while it would be a good predicting factor when associated with dysmorphism or congenital malformations. These findings propose that other cryptic chromosomal abnormalities or even single gene disorders may be the main cause of familial ID rather than subtelomeric aberrations.

PurposeRetinitis pigmentosa (RP) is the most common hereditary retinal degeneration and an important cause of visual disability worldwide. Rhodopsin gene is one of the most important genes implicated in autosomal dominant RP (ADRP). In this study, we investigated rhodopsin gene mutations in Iranian patients with ADRP.MethodsTwenty-one patients from 21 unrelated families with a total of 51 affected members were enrolled in this study. After complete history taking, ophthalmic examination and genetic counseling, peripheral blood samples were obtained. Following genomic DNA extraction, all five exons and intron–exon boundaries of RHO gene were sequenced using Sanger method. Interpretation of detected variants was carried out using appropriate databases and bioinformatic tools. Novel variants were screened in 150 unrelated healthy subjects.ResultsResults of direct sequencing revealed that five of 21 patients (23.8%) had mutation in the rhodopsin gene. Two of them had previously identified p.P347L mutation, and three had novel variants including p.L95P, p.R177K and p.N310K. None of these novel variants were detected in healthy controls. The p.L95P variant was associated with predominantly inferior retinal involvement.ConclusionsOur study showed that mutations of the rhodopsin gene are relatively frequent in Iranian patients with ADRP and could be considered in further researches in the future. The novel p.L95P variant may be associated with a specific pattern of retinal degeneration in this population.

The purpose of the present study was to evaluate the effects of exposure to waterborne sublethal cadmium (Cd) concentration on juvenile Persian sturgeon, Acipenser persicus . Fish were exposed to 0.68 mg/l of Cd for 1, 7, and 14 days, and metal bioaccumulations, biochemical responses, and gill ions were investigated. There were significant differences ( p  < 0.05) in the kidney (1, 7, and 14) and gills (7 and 14) for Cd concentrations between the control and treatment groups. Also, kidney Cd concentrations were significantly higher ( p  < 0.05) at metal treatments on day 14 in comparison to day 1. Results showed that there were significant differences ( p  < 0.05) in plasma glucose and cortisol concentrations between the experimental and control groups on day 1 only, and at metal treatments, a significant decrease ( p  < 0.05) was observed on days 7 and 14 compared to day 1. No significant alterations were observed in plasma and liver protein contents during the course of the study. Neither triiodothyronine or thyroxine levels nor liver catalase or glutathione- S -transferase activities changed significantly with sublethal dose and with the time. In contrast, liver superoxide dismutase activities were significantly decreased ( p  < 0.05) at Cd treatments both over the control group and during Cd exposure on days 7 and 14. Finally, a comparison between the groups revealed no differences in gill ion levels for 2 weeks. This study demonstrated that sublethal dose of Cd was stressful for Persian sturgeon and resulted in rapid changes in some of the biochemical parameters.

Preimplantation genetic diagnosis (PGD) has been considered as an alternative to prenatal diagnosis for prevention of genetic disorders while avoiding the subsequent termination of pregnancy. However, the limited amount of template DNA available in a single diploid cell used for PGD leads to number of problems including an increased incidence of detectable contamination; amplification failure and allele drop out. Due to their highly polymorphic and amplifiable characteristics, short tandem repeat (STR) analysis has been proposed as a mean to overcome these limitations. Heterozygosity of the applied STRs is of paramount importance in their informativity, and should therefore be studied in any certain population. Here, for the first time, we report on the heterozygosity analysis of five STR markers (D5S1408, D5S1417, D5S610, D5S629 and D5S637) flanking to SMA gene region, to examine their applicability in the PGD for SMA disease. We have also investigated other statistical features of these markers and found that all of the five studied STRs were informative and four meet the Hardy–Weinberg equilibrium for the studied population. Furthermore, our results propose that similar approaches can be used for the PGD of other single gene disorders.