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Today, a production enterprise cannot survive without using computer-based machines. Nevertheless, not all enterprises have enough money to invest in such manufacturing resources. On the other hand, handling the resource or providing appropriate platform is not easy at all. For companies, Cloud-based strategies give them a chance to bring their inherent knowledge and intelligence to every business case and cause a quick response by reducing the cost of investment. Manufacturers know that providing capacity, according to demand will increase the profit and help them to get new work contracts. In the recent century, intelligent manufacturing would be the one in which all information is available in the most useful way, right where and when that it is needed to hold an optimum operation or response such as cloud manufacturing. This paper aims to provide a framework for how using cloud services emerge at obtaining lean concepts in the manufacturing companies. The research has conducted through semi-structured interviews among professionals in Cloud-based environments and production systems. Key managers or employees from different levels have selected. Analyzing interview transcripts using a constructivist approach to grounded theory is supposed to result in a model for how to develop cloud service models according to the lean concepts, especially in manufacturing frameworks.

Failure Modes and Effects Analysis (FMEA) is being widely used to detect and eliminate known and/or potential failures, problems, errors and so on from system design, process, and/or service, before they reach the customer. It can be done by calculating the risk priority number which is the product of three factors: occurrence, severity and detectability. A lot of efforts have been made to overcome the shortcomings of the crisp RPN calculation and extend it to fuzzy environment. In this study, the presented fuzzy approach allows experts to describe the variables of risk priority number using linguistic terms by applying the method of fuzzy axiomatic design (FAD). At the final part of this paper a hypothetical case study demonstrated the applicability of the FMEA model under fuzzy environment.

Brugada syndrome (BrS) is an inherited arrhythmia characterized by ST-segment elevation in V1-V2 leads followed by negative T-wave on standard ECG, and high risk of ventricular tachyarrhythmias and sudden cardiac death (SCD). A wide range of supraventricular arrhythmias and conduction disturbances was described for BrS. The disease was considered of the high frequency in Southeast Asia, but current estimation of BrS is at least 1:10 000 in all ethnic groups. At least 17 genes are known to be responsible for BrS. Approximately 15-30% of individuals with Brugada syndrome cases are affected by mutations in SCN5A gene. In this study we discuss the clinical polymorphism and surgical treatment in a large family with Brugada syndrome caused by p.A735V mutation in SCN5A gene.

Background and ObjectivesThis study was undertaken to evaluate the effect of the cultivated Satureja khuzestanica essential oil (SKEO) on activity and gene expression of hepatic GK in normal and diabetic rats. MethodsBiochemical parameters such as glucose, insulin, and HbA1c plasma levels and oral glucose tolerance test were all analyzed. The cultivated SKEO was orally administered at different doses (100 mg/kg per day) to normal as well as diabetic rats for 21 days. The level of mRNA hepatic GK was determined using the quantitative real- time RT-PCR technique.ResultsThe plasma glucose concentrations of diabetic rats receiving wild SKEO compared with diabetic control were significantly decreased. The levels of plasma insulin in diabetic rats treated with wild SKEO were slightly increased compared with diabetic controls. In the present study, we observed decreased hepatic GK activity and its mRNA levels in diabetic control rats compared with normal controls and their moderately higher levels after being treated with wild SKEO. We thought, the slightly increased levels of insulin indicates that the wild SKEO causes a little stimulation in insulin secretion from remnant B-cells through its antioxidant properties. ConclusionModerate elevation in activity and gene expression of hepatic GK in diabetic rats treated with the wild SKEO is one of the factors involved in anti-hyperglycemic effect that may contribute to the plasma glucose lowering action of SKEO which seems to be in relation with antioxidant properties of SKEO.Keywords: Anti-hyperglycemic; Diabetic Rats; Gene Expression; Glucokinase; Hypoglycemic Agents; Satureja Khuzestanica Jamzad

Leber's hereditary optic neuropathy (LHON) is a maternally inherited form of retinal ganglion cell degeneration leading to optic atrophy in young adults. Several mutations in different genes can cause LHON (heterogeneity). The ND6 gene is one of the mitochondrial genes that encodes subunit 6 of complex I of the respiratory chain. This gene is a hot spot gene. Fourteen Persian LHON patients were analyzed with single-strand conformational polymorphism and DNA sequencing techniques. None of these patients had four primary mutations, G3460A, G11788A, T14484C, and G14459A, related to this disease. We identified twelve nucleotide substitutions, G13702C, T13879C, T14110C, C14167T, G14199T, A14233G, G14272C, A14290G, G14365C, G14368C, T14766C, and T14798C. Eleven of twelve nucleotide substitutions had already been reported as polymorphism. One of the nucleotide substitutions (A14290G) has not been reported. The A14290G nucleotide substitution does not change its amino acid (glutamic acid). We looked for base conservation using DNA star software (MEGALIGN program) as a criterion for pathogenic or nonpathogenic nucleotide substitution in A14290G. The results of ND6 gene alignment in humans and in other species (mouse, cow, elegans worm, and Neurospora crassa mold) revealed that the 14290th base was not conserved. Fifty normal controls were also investigated for this polymorphism in the Iranian population and two had A14290G polymorphism (4%). This study provides evidence that the mtDNA A14290G allele is a new nonpathogenic polymorphism. We suggest follow-up studies regarding this polymorphism in different populations.

Abstract  The electrocatalytic oxidation of aspirin and acetaminophen on nanoparticles of cobalt hydroxide electrodeposited on the surface of a glassy carbon electrode in alkaline solution was investigated. The process of oxidation and the kinetics have been investigated using cyclic voltammetry, chronoamperometry, and steady-state polarization measurements. Voltammetric studies have indicated that in the presence of drugs, the anodic peak current of low valence cobalt species increases, followed by a decrease in the corresponding cathodic current. This indicates that drugs are oxidized on the redox mediator which is immobilized on the electrode surface via an electrocatalytic mechanism. With the use of Laviron’s equation, the values of anodic and cathodic electron-transfer coefficients and charge-transfer rate constant for the immobilized redox species were determined as α s,a = 0.72, α s,c = 0.30, and k s = 0.22 s−1. The rate constant, the electron transfer coefficient, and the diffusion coefficient involved in the electrocatalytic oxidation of drugs were reported. It was shown that by using the modified electrode, aspirin and acetaminophen can be determined by amperometric technique with detection limits of 1.88 × 10−6 and 1.83 × 10−6 M, respectively. By analyzing the content of acetaminophen and aspirin in bulk forms using chronoamperometric and amperometric techniques, the analytical utility of the modified electrode was achieved. The method was also proven to be valid for analyzing these drugs in urine samples. [ABSTRACT FROM AUTHOR]

An experiment was conducted to evaluate the effects of dietary nutrients (protein, methionine, and choline) manipulation on the performance and tibia characteristics of broilers fed diets containing 15% oak acorn. A completely randomized design with five treatments and four replicates of 15 chicks each, was used. One group was fed a diet based on corn (without oak acorn) as control and other four groups were fed diets containing oak acorn with one of the following nutrient manipulation: without nutrient manipulation, high level of methionine (100% more than NRC), high level of CP (10% more than NRC), and addition of 0.2% choline. Starter and finisher diets were fed from one to 21 and 22 to 42 d of age, respectively. The results indicated that group fed diet without nutrient manipulation presented higher feed intake and worse feed conversion ratio (p

Background: Sandhoff disease is an autosomal recessive disorder caused by β-hexosaminidase deficiency and accumulation of GM2 ganglioside resulting in progressive motor neuron manifestations and death from respiratory failure and infections in infantiles. Pathogenic mutations in HEXB gene were observed which leads to enzyme activity reduction and interruption of normal metabolic cycle of GM2 ganglioside in sandhoff patients.Methods: Six infantile index patients with typical biochemical and clinical picture of the disease were studied at the molecular level. After DNA extraction and amplification, probands and their parents, were evaluated by direct sequencing of amplicons.Results: We identified 7 different mutations among which 4 were novel. The most prevalent finding (50%) among our population was a 16 kb deletion including the promoter and exons 1-5. The other findings included c.1552delG and c.410G>A, c.362 A>G, c.550delT, c.1597C>T, c.1752delTG.Conclusion: We conclude that Cys137Tyr and R533C mutations may be pathogenic because of changing amino acid and locating at the conserved region and also they have not been observed in hundred controls. Besides, four mutations including: Cys137Tyr, c.1552delG, c.1597C>T and c.550delT fulfilled almost criteria for pathogenic mutation.

Background: Sandhoff disease is an autosomal recessive disorder caused by β-hexosaminidase deficiency and accumulation of GM2 ganglioside resulting in progressive motor neuron manifestations and death from respiratory failure and infections in infantiles. Pathogenic mutations in HEXB gene were observed which leads to enzyme activity reduction and interruption of normal metabolic cycle of GM2 ganglioside in sandhoff patients. Methods: Six infantile index patients with typical biochemical and clinical picture of the disease were studied at the molecular level. After DNA extraction and amplification, probands and their parents, were evaluated by direct sequencing of amplicons. Results: We identified 7 different mutations among which 4 were novel. The most prevalent finding (50%) among our population was a 16 kb deletion including the promoter and exons 1-5. The other findings included c.1552delG and c.410G>A, c.362 A>G, c.550delT, c.1597C>T, c.1752delTG. Conclusion: We conclude that Cys137Tyr and R533C mutations may be pathogenic because of changing amino acid and locating at the conserved region and also they have not been observed in hundred controls. Besides, four mutations including: Cys137Tyr, c.1552delG, c.1597C>T and c.550delT fulfilled almost criteria for pathogenic mutation.

ABSTRACT A total of 360 one-day-old Cobb 500 chicks were randomly distributed in a completely randomized design according to a 3×2 factorial arrangement, consisting of three levels of dietary crude protein (100, 90 and 85% of NRCrecommended levels) and a feed additive (with or without feed additive). A blend of a commercial probiotic and a prebiotic were used as feed additives. Each treatment had four replicates of 15 birds each. Prebiotic and probiotic were added to the starter (days 1 to 21) and finisher (days 22 to 42) diets according to the manufacturer´s recommendations. The findings indicated that significant differences were not observed between 100 and 90% NRC for broiler performance (body weight, body weight gain, feed intake and feed conversion ratio) throughout the experiment, while the birds fed the diets containing 85% NRC had poorer performance than those fed 100% (p

Materials data science and machine learning (ML) are pivotal in advancing cancer treatment strategies beyond traditional methods like chemotherapy. Nanotherapeutics, which merge nanotechnology with targeted drug delivery, exemplify this advancement by offering improved precision and reduced side effects in cancer therapy. The development of these nanotherapeutic agents depends critically on understanding nanoparticle (NP) properties and their biological interactions, often analyzed through molecular dynamics (MD) simulations. This study enhances these analyses by integrating ML with MD simulations, significantly improving both prediction accuracy and computational efficiency. We introduce a comprehensive three-stage methodology for predicting the solvent-accessible surface area (SASA) of NPs, which is crucial for their therapeutic efficacy. The process involves training an ML model to forecast the many-body tensor representation (MBTR) for future time steps, applying data augmentation to increase dataset realism, and refining the SASA predictor with both augmented and original data. Results demonstrate that our methodology can predict SASA values 299 time steps ahead with a 40-fold speed improvement and a 25% accuracy increase over existing methods. Importantly, it provides a 300-fold increase in computational speed compared to traditional simulation techniques, offering substantial cost and time savings for nanotherapeutic research and development., (© 2024. The Author(s).)

Background: Primary immunodeficiency diseases (inborn errors of immunity) with partial albinism are a group of autosomal recessive syndromes including Chediak Higashi Syndrome (CHS), Griscelli Syndrome type 2 (GS2), Hermansky-Pudlak Syndromes type 2 and 10 (HPS2, HPS10), Vici syndrome and P14/LAMTOR2 deficiency., Methods: Twenty-five patients including 10 CHS, 10 GS2, and 5 HPS2 were evaluated in this study within the last 10 years. Five cases with oculocutaneous albinism (OCA) and 5 healthy subjects without albinism were used as two control groups. Genetic analyses were performed by whole exome or panel sequencing or targeted Sanger sequencing. Subsequently, leukocyte granules in peripheral blood smear and hair shaft were examined as screening tests., Results: Giant granules were only presented in the leukocytes cytoplasm of 10/10 CHS patients. The uneven cluster of pigments and giant melanin granules in hair samples were observed in 10/10 GS2 and 10/10 CHS patients, respectively. In both 5/5 OCA and 5/5 HPS2 patients, there were regular pigments in the middle of hair shafts. Genetic analyses were performed for all patients, revealing 7 novel variants in LYST gene for CHS patients and 4 novel variants in AP3B1 for HPS2 patients., Conclusion: Receiving hematopoietic stem cell transplantation (HSCT) in a timely manner is crucial in CHS and GS2 patients; therefore, screening tests may provide a vital clue for early diagnosis in these patients. However, the final confirmation of CHS, GS2, and HPS2 disorders is done by genetic assay., (© 2024 European Academy of Allergy and Clinical Immunology and John Wiley & Sons Ltd.)

Background: Breast cancer (BC) is the most prevalent malignancy in females worldwide. Mutations in the DNA repair pathway genes contribute to a significant increase in BC risk. The present study aimed to assess the frequency of polymorphisms in BRCA1, ATM, and CHEK2 genes and their association with BC susceptibility in the Kurdish population from the West of Iran., Methods: In the present case-control study, the distribution of single nucleotide polymorphisms (SNPs) in CHEK2 (rs17879961), ATM (rs28904921), and BRCA1 (rs80357906, rs1555576855, rs1555576858, and rs397509247) genes were investigated in 335 BC cases and 354 healthy-matched controls by Taqman allelic discrimination assay. The chi-square goodness-of-fit test was employed for the assessment of Hardy-Weinberg Equation. Relative risk and odds ratios were calculated based on the Koopman asymptotic score and the Baptista-Pike method, respectively. Also, the sensitivity and specificity of each polymorphism were assessed using the Wilson-Brown test and a P-value < 0.05 indicating significant differences between the two groups in all assessments., Results: Data showed there was a strong association between rs397509247 (OR = 7.53, 95% CI 1.88-90.91, p = 0.004), rs1555576858 (OR = 10.53, 95% CI 0.01-0.51, p = 0.0005), and rs80357906 (OR = 6.33, 95% CI 0.05-0.043, p < 0.0001) in BRCA1 gene and rs17879961 (OR = 3.52, 95% CI 0.084-0.946, p = 0.02) in CHEK2 gene, with BC risk in the population of interest. Among these, rs28904921 in ATM gene demonstrated the strongest association (OR = 72.66, 95% CI 0.007-0.214, p < 0.0001). This suggests that these SNPs, particularly rs28904921, are significantly associated with an increased risk of BC in the studied population., Conclusion: Our results indicated that BRCA1, ATM, and CHEK2 polymorphisms have a high frequency in the Iranian breast cancer population, with some mutant allele frequencies being much higher than those reported in other populations. We have also provided a simple, multiplex, rapid, and accurate genotyping assay that is useful in clinical settings., (© 2024. The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature.)

Among different microbial-induced calcium carbonate precipitation (MICCP) mechanisms utilized for biomineralization, ureolysis leads to the greatest yields of calcium carbonate. Unfortunately, it is reported that urea-induced growth inhibition can delay urea hydrolysis but it is not clear how this affects MICCP kinetics. This study investigated the impact of urea addition on the MICCP performance of Lysinibacillus sphaericus MB284 not previously grown on urea (thereafter named bio-agents), compared with those previously cultured in urea-rich media (20 g/L) (hereafter named bio-agents + or bio-agents-plus). While it was discovered that initial urea concentrations exceeding 3 g/L temporarily hindered cell growth and MICCP reactions for bio-agents, employing bio-agents + accelerated the initiation of bacterial growth by 33% and led to a 1.46-fold increase in the initial yield of calcium carbonate in media containing 20 g/L of urea. The improved tolerance of bio-agents + to urea is attributed to the presence of pre-produced endogenous urease, which serves to reduce the initial urea concentration, alleviate growth inhibition, and expedite biomineralization. Notably, elevating the initial concentration of bio-agents + from OD 600 of 0.01 to 1, housing a higher content of endogenous urease, accelerated the initiation of MICCP reactions and boosted the ultimate yield of biomineralization by 2.6 times while the media was supplemented with 20 g/L of urea. These results elucidate the advantages of employing bio-agents + with higher initial cell concentrations to successfully mitigate the temporary inhibitory effects of urea on biomineralization kinetics, offering a promising strategy for accelerating the production of calcium carbonate for applications like bio self-healing of concrete., (Copyright © 2024 The Society for Biotechnology, Japan. Published by Elsevier B.V. All rights reserved.)

Background: Discoidin domain receptor 1 (DDR1) signaling plays a critical role in various cellular functions. Increased DDR1 expression has been shown in different human cancers. t-DARPP is a truncated isoform of DARPP-32, and its upregulation promotes cell survival and migration. Most lung cancer patients have non-small cell lung cancer (NSCLC), and their survival rate is low. Therefore, it is necessary to study new and effective targeted therapies. Increased t-DARPP expression in NSCLC patients is associated with patient survival and can act as a prognostic marker correlated with increasing stages of NSCLC. The current study aimed to evaluate alteration in DDR1 expression and its effects on t-DARPP expression in NSCLC., Methods: Two human lung adenocarcinoma cell lines, A549 and Calu-3, were treated with collagen type I and transfected with DDR1 siRNA. The relative expression of DDR1 and t-DARPP was evaluated using qRT-PCR., Results: The results indicated that collagen type I could stimulate DDR1 expression in NSCLC cells. Also, DDR1 upregulation resulted in a significant increase in t-DARPP expression. In contrast, suppression of DDR1 expression significantly decreased t-DARPP expression., Conclusion: Our findings propose that modification in the expression of DDR1, caused by collagen type I and siRNA, might influence the expression of t-DARPP in NSCLC that is linked to NSCLC progression. Moreover, this alteration could potentially serve as an innovative target for therapeutic intervention.

Background: In order to support the comprehensive classification of Leukocyte Adhesion Deficiency-I (LAD-I) severity by simultaneous screening of CD11a/CD18, this study assessed clinical, laboratory, and genetic findings along with outcomes of 69 LAD-I patients during the last 15 years., Methods: Sixty-nine patients (40 females and 29 males) with a clinical phenotype suspected of LAD-I were referred to Immunology, Asthma, and Allergy research institute, Tehran, Iran between 2007 and 2022 for further advanced immunological screening and genetic evaluations as well as treatment, were enrolled in this study., Results: The diagnosis median age of the patients was 6 months. Delayed umbilical cord separation was found in 25 patients (36.2%). The median diagnostic delay time was 4 months (min-max: 0-82 months). Forty-six patients (66.7%) were categorized as severe (CD18 and/or CD11a: below 2%); while 23 children (33.3%) were in moderate category (CD18 and/or CD11a: 2%-30%). During the follow-ups, 55.1% of children were alive with a mortality rate of 44.9%. Skin ulcers (75.4%), omphalitis (65.2%), and gingivitis (37.7%) were the most frequent complaints. Genetic analysis of the patients revealed 14 previously reported and three novel pathogenic mutations in the ITGB2 gene. The overall survival of patients with and without hematopoietic stem cell transplantation was 79.3% and 55.6%, respectively., Conclusion: Physicians' awareness of LAD-I considering delayed separation of umbilical cord marked neutrophilic leukocytosis, and variability in CD11 and CD18 expression levels, and genetic analysis leads to early diagnosis and defining disease severity. Moreover, the prenatal diagnosis would benefit families with a history of LAD-I., (© 2023 EAACI and John Wiley and Sons A/S. Published by John Wiley and Sons Ltd.)

Background: Although the exact mechanisms of nonalcoholic fatty liver disease (NAFLD) are not fully understood, numerous pieces of evidence show that the variations in mitochondrial DNA (mtDNA) level and hepatic Fibroblast growth factor 21 (FGF21) expression may be related to NAFLD susceptibility. Objectives: The main objective of this study was to determine relative levels of mtDNA copy number and hepatic FGF21 expression in a cohort of Iranian NAFLD patients and evaluate the possible relationship. Methods: This study included 27 NAFLD patients (10 with nonalcoholic fatty liver (NAFL) and 17 with non-alcoholic steatohepatitis (NASH)) and ten healthy subjects. Total RNA and genomic DNA were extracted from liver tissue samples, and then mtDNA copy number and FGF21 expression levels were assessed by quantitative real-time PCR. Results: The relative level of hepatic mtDNA copy number was 3.9-fold higher in patients than in controls ( p < 0.0001). NAFLD patients showed a 2.9-fold increase in hepatic FGF21 expression compared to controls ( p < 0.013). Results showed that hepatic FGF21 expression was positively correlated with BMI, serum ALT, and AST levels ( p < 0.05). The level of mitochondrial copy number and hepatic FGF21 expression was not significantly associated with stages of change in hepatic steatosis. Finally, there was a significant correlation between FGF21 expression and mitochondrial copy number in NAFLD patients ( p = 0.027). Conclusion: Our findings suggest a considerable rise of hepatic FGF21 mRNA levels and mtDNA-CN and show a positive correlation between them in the liver tissue of NAFLD patients., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2023 Houshmand, Zeinali, Hosseini, Seifi, Danaei and Kamfar.)

Griscelli syndrome type 2 (GS2) is an autosomal recessive immunodeficiency characterized by hair hypopigmentation, recurrent fever, hepatosplenomegaly and pancytopenia. This study aims to find new genetic changes and clinical features in 18 children with GS2 caused by the RAB27A gene defect. In all, 18 Iranian children with GS2 who presented with silver grey hair and frequent pyogenic infection were included in this study. After recording demographic and clinical data, PCR sequencing of the RAB27A gene was performed for all exons and exon-intron boundaries. Two patients in this study were subjected to whole-exome sequencing followed by Sanger sequencing. Light microscopy study of hair showed large irregular clumps of pigment with the absence of giant granules on the blood smear. Mutation analysis of the RAB27A gene identified two novel missense mutations as homozygous in a patient, one in exon 2, c.140G>C and another in exon 4, c.328G>T. In addition, for 17 other patients, 6 reported mutations were obtained including c.514&#95;518delCAAGC, c.150&#95;151delAGinsC, c.400&#95;401delAA, c.340delA, c.428T>C and c.221A>G. The mutation c.514&#95;518delCAAGC was the most frequent and found in 10 patients; this mutation may be considered a hotspot in Iran. Early diagnosis and treatment of RAB27A deficiency can contribute to better disease outcomes. In affected families, genetic results could be urgently needed to make a timely decision about haematopoietic stem cell transplantation and prenatal diagnosis., (© 2023 The Scandinavian Foundation for Immunology.)

Ovarian cancer is taken as the most typical malignancy among women and the ninth most typical cancer in Iran. Predictive tools are of great importance as ovarian cancer is usually detected in patients at later stages of the disease. In other countries, the TIPARP gene rs2665390 has been reported to be pertinent to ovarian cancer as a risk factor. This study aims to examine if this polymorphism pertains to the risk of ovarian cancer to diagnose suitable biomarkers in the Iranian population. Method : In the present case-control piliot study, peripheral blood samples were gathered from 60 control subjects and 60 patients with ovarian cancer. The gene was determined by Tetra ARMS PCR after DNA extraction. Tetra ARMS PCR is a flexible, rapid, and cost-effective method to detect allele-specific DNA polymorphisms. The data were analyzed by chi-square test. Results : The results indicated that there was a significant association between the T/T and C/C genotypes distribution and C and T allele in ovarian cancer for rs2665390 polymorphism in the two populations. In addition, significant correlations were observed in patients with the (T/T) genotype (p = 0.0048) as frequencies of ovarian cancer decreased. Discussion & Conclusions : Based on the results, rs2665390 polymorphism of TiPARP gene might be pertained to the susceptibility of ovarian cancer in the Iranian pilot population, which can be used as a suitable biomarker for the population and help physicians with their predictions. However, more studies need to be conducted in this area to broaden our horizons on this issue., Competing Interests: The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (©2023PublishedbyElsevierInc.)

Background: Male infertility due to very severe oligozoospermia has been associated with some genetic risk factors., Objective: To investigate the distribution of the mutations in the CFTR gene, the CAG-repeat expansion of the AR gene, also Y chromosome microdeletions and karyotyping abnormalities in very severe oligozoospermia patients., Methods: In the present case-control study, 200 patients and 200 fertile males were enrolled. All patients and control group were karyotyped. Microdeletions were evaluated using multiplex PCR. Five common CFTR mutations were genotyped using the ARMS-PCR technique. The CAG-repeat expansion in the AR gene was evaluated for each individual using sequencing., Results: Overall 4% of cases shows a numerical and structural abnormality. 7.5% of patients had a deletion in one of the AZF regions on Yq, and 3.5% had a deletion in two regions. F508del was the most common (4.5%) CFTR gene mutation; G542X, and W1282X were detected with 1.5% and 1% respectively. One patient was found to have AZFa microdeletion and F508del in heterozygote form; one patient had AZFb microdeletion with F508del. F508del was seen as compound heterozygous with G542X in one patient and with W1282X in the other patient. The difference in the mean of the CAG-repeats in the AR gene in patients and control groups was statistically significant (P = 0.04)., Conclusion: Our study shows the genetic mutations in men with severe oligozoospermia and given the possibility of transmission of these disorders to the next generation by fertilization, counseling and genetic testing are suggested for these couples before considering ICSI., (© 2022. This is a U.S. Government work and not under copyright protection in the US; foreign copyright protection may apply.)

Chronic granulomatous disease (CGD) is a rare primary immunodeficiency disorder more common in autosomal recessive (AR) than X-linked in Iran. This study aimed to assess whether having a child with AR-CGD would increase the likelihood of the next child being affected by CGD. Ninety-one families with at least one child affected by AR-CGD entered this study. Out of the 270 children, 128 were affected by AR-CGD. We used a cross tab for the odds ratio (OR) calculation, in which exposure to a previously affected child and the next child's status were evaluated. This study illustrated that the chances of having another child afflicted with AR-CGD are significantly increased if the previous child had AR-CGD (OR=2.77, 95% CI=1.35-5.69).Althoug h AR disorders affect 25% of each pregnancy, we showed that the chance that the next child would be affected by CGD, given that the previous child was affected, is 2.77 times greater than in families with a normal child. It is recommended to warn families with one or more affected children to evaluate the risk of CGD in their subsequent pregnancies with prenatal diagnosis.