Prevalence of congenital anomalies and related factors in live births in Zahedan, Southeast of Iran: A cross-sectional study

Background: The term congenital anomalies (CAs) refers to structural or functional abnormalities at the time of conception. Approximately 12 deaths related to congenital disabilities occur in every 10,000 babies born. Objective: This study aimed to evaluate the prevalence and associated factors of single and multiple CAs in live births in Zahedan, Southeast Iran. Materials and Methods: This cross-sectional study was conducted on 59,087 live births in a referral hospital in Zahedan located in the southeast of Iran from 2009 to 2019. All live births were examined by pediatricians and the CAs and categorized based on the international classification of diseases. Results: Of 59,085 live births, at least 883 had a significant anomaly, and the prevalence rate of CAs was about 149 per 10,000. Anomalies of the nervous (24.1%) and cardiovascular systems (21.10%) were the most frequent, occurring in 213 and 187 of the live births, respectively. Spina bifida is the most common anomaly of the central nervous system. The most common anomalies in the cardiovascular system were unspecified heart malformations (17.1%), cardiovascular malformations (18.7%), and patent ductus arteriosus (11.7%). Significant correlations were found between the parent’s consanguinity marriage, the mother’s age, an existing anomaly in the family, and relatives in single and multiple CAs (p = 0.02, p = 0.02, p < 0.001, p = 0.01, respectively). Conclusion: The prevalence of CAs was 149 per 10,000 live births. The highest prevalence of CAs was related to the central nervous system. Increasing the public’s knowledge about fetal defects can reduce the prevalence of CAs. Key words: Congenital anomalies, Hospitalization, Iran, Live birth, Prevalence, Risk factors

Immunohistochemical Expression of Myeloperoxidase in Placental Samples of Systematic Lupus Erythematosus Pregnancies

Objective: Reports of increased level of Myeloperoxidase (MPO) in plasma and placental extracts of Systematic Lupus Erythematosus (SLE) has been proposed that MPO may have an important role in this pregnancy complication. In present study immunohistochemical MPO expression was investigated in placental samples of SLE women compared with normal controls. Materials and methods: Ten patients with SLE were recruited as case group. Control group was selected from mothers with normal uncomplicated pregnancies. A monoclonal antibody specific for MPO was used for immunohistochemical staining and then the staining was quantified and differences between groups were compared using Mann-Whitney U test. Results: There were significant differences in the expression levels of MPO in the syncytiotrophoblast cells and the extravillous trophoblast cells between the control and SLE groups (p 0.05). Conclusion: The present study showed that MPO expression is increased in syncytiotrophoblast cells and the extravillous trophoblast cells of SLE placentas compared to healthy subjects. It seems that these changes are able to impress structure and function of placenta and survival of the fetus

Quantitative Parameters of Interdental Gingiva in Chronic Periodontitis Patients with IFN-γ Gene Polymorphism

Chronic periodontitis (CP), an infectious disease resulting in inflammation within the periodontal tissue, is the main cause of adult tooth loss. CP is a multi-factorial disorder and the interaction between multiple genetic and environmental factors results in the manifestation of this disease. Recent researches in periodontitis has focused on cytokine gene polymorphisms that play important role in periodontal inflammation, but few studies investigated histological change that occur during CP in the supporting tissue of teeth. The aims of this study were to investigate the association of IFN-γ +874 A/T polymorphisms and quantitative parameters of interdental gingiva in CP patients. The study samples were interdental gingiva biopsies from 60 individuals including 38 patients and 22 healthy subjects. After determination of IFN-γ +874 A/T gene polymorphism by amplification refractory mutation system-polymerase chain reaction (ARMS-PCR), patients were divided in three subgroups: 10 AA, 18 AT and 10 TT. After slides preparation, quantitative parameters were estimated by Cavalieri’s point-counting method. Statistical analyses were performed using Mann-Whitney and Kruskal-Wallis test to compare differences between groups. The volume density (Vv) of epithelium, connective tissue and its components were significantly different between the control and CP groups (P<0.05). Statistically significant differences in the Vv of collagenous and non-collagenous matrix of interdental gingiva between AA, AT and TT groups were found (P<0.05). Result of present study shows that IFN-γ +874 A/T is strongly associated with some quantitative parameters of connective tissue constituents of interdental papilla in CP patients

Effects of gestational diabetes mellitus on stereological parameters and extravillous trophoblast cells of placenta compared to the control group

The quantitative changes of extravillous trophoblast cells (EVTs) in placenta of gestational diabetes mellitus (GDM) patients were investigated compared to healthy controls using stereological methods. The volumetric parameters of the placenta and EVTs were estimated using Cavalieri’s principle and Physical Disector stereological methods. The placental volume and weight in the GDM group increased compared to the control group (p < .05). The difference in the total volume of intervillous space and blood vessels of the placenta between GDM and control groups was statistically significant (p < .05). In addition, there was a significant difference in the volume density of blood vessels and syncytiotrophoblast between the GDM group and the control group (p < .05). The total volume of the EVTs, nucleus and cytoplasm diameter, volume of the nucleus and cytoplasm, nucleus to cytoplasm ratio (N/C) of EVTs and the total number of EVTs per unit volume of the placenta in the GDM group showed a significant increase compared to the controls (p < .05).Impact statement What is already known on this subject? It is reported that extravillous trophoblast cells (EVTs) played an important role in pregnancy complications. There are limited studies on the quantitative changes of EVTs in the placental bed of GDM patients. What do the results of this study add? The results showed that volumetric parameters and number of EVTs were significantly altered in GDM placentas. These changes can be associated with disturbances in trophoblastic invasion in GDM pregnancies and may affect the development and survival of the embryo. What are the implications of these findings for clinical practice and/or further research? In the present study, there is a new insight to placenta structure that probably could be useful to understanding possible mechanisms of pregnancy complications and the achievement of new therapeutic strategies. Further investigation on the molecular biology of these cells in pregnancy complications will be needed to clarify this hypothesis

Quantitative changes of extravillous trophoblast cells in placentas of systemic lupus erythematosus patients

In the present study, quantitative changes of extravillous trophoblast cells (EVTs) in the placentas of SLE patients were investigated compared to healthy controls using stereological methods. Volumetric parameters and number of EVTs per unit volume of the placenta were estimated respectively, using Cavalieri’s principle and Physical Disector stereological methods. Placental volume in the SLE group was increased compared to the control group, but this increase was not statistically significant (p > .05). Placental weight in the patient group showed a significant decrease compared to controls (p < .05). Total volume of EVTs, diameter and volume of the nucleus and cytoplasm and the N/C ratio of EVTs in the SLE group showed a significant increase compared to the controls (p < .05). In SLE placentas the total number of EVTs per unit volume of the placenta was increased significantly compared to the control group (p < .05).Impact statement In the present study, there is a new insight to placenta structure that may be useful in understanding possible mechanisms of pregnancy complications and the achievement of new therapeutic strategies. In the present study, for the first time quantitative changes of extravillous trophoblast cells (EVTs) in the placental bed of SLE patients were investigated compared to healthy controls using stereological methods. Results showed that volumetric parameters and number of EVTs were significantly altered in SLE placentas. These changes can be associated with disturbances in trophoblastic invasion in SLE pregnancies and may affect the development and survival of the embryo. Further investigation on the molecular biology of these cells in pregnancy complications will be needed to clarify this hypothesis

Association of macrophage migration inhibitory factor gene polymorphisms with chronic periodontitis in a South Eastern Iranian population

Background: Macrophage migration inhibitory factor (MIF) is a key proinflammatory mediator. It plays a vital role in immune response against the oral disease. MIF is a regulator of innate immunity, and bacterial antigens can stimulate serum level of this protein. In experimental gingivitis, the expression level of MIF increases and this increment positively correlates with oral plaque index. The single nucleotide polymorphisms in the gene encoding the MIF protein can control the function of MIF. The aim of the present study was a clarification of the associations between MIF-173 G/C, MIF 95 bp, and 189 bp insertion/deletion (I/D) polymorphisms and chronic periodontitis (CP) compared with healthy controls. Materials and Methods: This case–control study was carried out on 210 CP patients and 100 normal subjects. MIF-173 G/C and MIF 95 bp and 189 bp I/D polymorphisms were genotyped, using polymerase chain reaction–restriction fragment-length polymorphism (PCR-RFLP) and PCR, respectively. Allele and genotype frequencies of the variants were compared between patients and controls using Chi-square. test. The value of P < 0.05 was considered statistically significant. Results: The study findings showed that MIF-173 G/C polymorphism, especially the C allele increased the risk of CP. The 95-bp I/D polymorphism was not associated with CP and the 185-bp I/D variant was not polymorphic in our population. Conclusion: Therefore, MIF-137 G/C variant increased the risk of CP in the South East of the Iranian population. In other words, polymorphisms in MIF gene influence clinical outcome of CP infection and influence the susceptibility to disease. Further studies with larger sample sizes and different ethnicities are required to validate our findings

Association between IFN-γ +874A/T and IFN-γR1 (-611A/G, +189T/G, and +95C/T) Gene Polymorphisms and Chronic Periodontitis in a Sample of Iranian Population

Background. Interferon gamma (IFN-γ) is an immune regulatory cytokine that acts through its receptor and plays important role in progression of inflammatory disease such as chronic periodontitis (CP). The purpose of this study was to determine the differences in the distribution of IFN-γ (+874A/T) and IFN-γR1 (-611A/G, +189T/G, and +95C/T) gene polymorphisms among CP and healthy individuals and to investigate relationships between these polymorphisms and susceptibility to CP. Materials and Methods. 310 individuals were enrolled in the study including 210 CP patients and 100 healthy controls. Single nucleotide polymorphisms at IFN-γ (+874A/T) and IFN-γR1 (-611A/G, +189T/G, and +95C/T) were analyzed by ARMS-PCR and PCR-RFLP methods. Results. The significant difference was found in genotype and allele frequency of IFN-γ (+874A/T) gene polymorphism in chronic periodontitis patients and healthy controls. The distribution of genotypes and allele frequencies for IFN-γR1 (-611A/G, +189T/G, and +95C/T) were similar among the groups and no differences in the frequencies of alleles or genotypes of IFN-γR1 genetic polymorphisms variants between case and control groups were detected. Conclusion. The finding of this study showed that IFN-γ +874A/T gene polymorphism may affect susceptibility to CP, whereas IFN-γR1 genetic polymorphisms at -611A/G, +189T/G, and +95C/T were not associated with this disease

Global Practice Patterns and Variations in the Medical and Surgical Management of Non-Obstructive Azoospermia: Results of a World-Wide Survey, Guidelines and Expert Recommendations

International audiencePurpose: Non-obstructive azoospermia (NOA) is a common, but complex problem, with multiple therapeutic options and a lack of clear guidelines. Hence, there is considerable controversy and marked variation in the management of NOA. This survey evaluates contemporary global practices related to medical and surgical management for patients with NOA.Materials and methods: A 56-question online survey covering various aspects of the evaluation and management of NOA was sent to specialists around the globe. This paper analyzes the results of the second half of the survey dealing with the management of NOA. Results have been compared to current guidelines, and expert recommendations have been provided using a Delphi process.Results: Participants from 49 countries submitted 336 valid responses. Hormonal therapy for 3 to 6 months was suggested before surgical sperm retrieval (SSR) by 29.6% and 23.6% of participants for normogonadotropic hypogonadism and hypergonadotropic hypogonadism respectively. The SSR rate was reported as 50.0% by 26.0% to 50.0% of participants. Interestingly, 46.0% reported successful SSR in <10% of men with Klinefelter syndrome and 41.3% routinely recommended preimplantation genetic testing. Varicocele repair prior to SSR is recommended by 57.7%. Half of the respondents (57.4%) reported using ultrasound to identify the most vascularized areas in the testis for SSR. One-third proceed directly to microdissection testicular sperm extraction (mTESE) in every case of NOA while others use a staged approach. After a failed conventional TESE, 23.8% wait for 3 months, while 33.1% wait for 6 months before proceeding to mTESE. The cut-off of follicle-stimulating hormone for positive SSR was reported to be 12-19 IU/mL by 22.5% of participants and 20-40 IU/mL by 27.8%, while 31.8% reported no upper limit.Conclusions: This is the largest survey to date on the real-world medical and surgical management of NOA by reproductive experts. It demonstrates a diverse practice pattern and highlights the need for evidence-based international consensus guidelines