Correlación entre el polimorfismo de los genes LHCGR y NR5A1y el riesgo de infertilidad masculina / Correlation between LHCGR and NR5A1 genes polymorphism and male infertility risk

Introducción La infertilidad constituye un problema de salud que afecta gravemente la reproducción humana. En el caso de la infertilidad masculina, la mayoría de los casos se deben a factores genéticos. En este estudio nos propusimos realizar un análisis de correlación entre la infertilidad masculina idiopática y el polimorfismo de un solo nucleótido (SNP, por Single Nucleotide Polymorphism) de los genes LHCGR (rs2293275) y NR5A1 (rs1057517779) en la población azerí de Irán. Métodos En este estudio de casos y controles participaron 100 varones infértiles y 100 varones sanos procedentes de la población azerí iraní. La genotipificación se realizó mediante el aislamiento del ADN genómico a partir de muestras de sangre total con el sistema de amplificación por reacción en cadena de la polimerasa refractario a mutaciones Tetra-primer (Tetra-ARMS-PCR). El análisis de los datos se llevó a cabo mediante la prueba de Chi-cuadrado (χ2) y la prueba exacta de Fisher. Resultados Según el análisis de genotipificación del polimorfismo LHCGR (rs2293275), la frecuencia del alelo C en el grupo de casos era significativamente mayor que en el grupo de control (p<0,05). El análisis del polimorfismo NR5A1 (rs1057517779) indicó que la frecuencia del alelo A y del genotipo heterocigoto GA en el grupo de casos era significativamente superior a la del grupo de control (p<0,05). Conclusión Nuestro estudio demostró que los SNP de los genes LHCGR (rs2293275) y NR5A1 (rs1057517779) pueden desempeñar un papel crucial en la infertilidad masculina de la población azerí en Irán. Sin embargo, se requieren más estudios realizados en otros orígenes étnicos con muestras de mayor tamaño para obtener resultados más precisos. Además, podrían ser necesarios experimentos funcionales para comprender el papel de estos polimorfismos en las vías moleculares implicadas en la fertilidad masculina. (AU)

Introduction Infertility is one of the important phenomena in human reproduction. Genetic factors are the most important cause of male infertility. Here, we aimed to investigate the correlation between idiopathic male infertility and SNPs of the LHCGR (rs2293275) and NR5A1 (rs1057517779) genes in the Iranian-Azeri population. Methods This case-control study consisted of 100 males with infertility and 100 healthy males from the Iranian Azeri population. Genomic DNA isolation from whole blood samples and Tetra-primer amplification refractory mutation system-polymerase chain reaction (Tetra-ARMS-PCR) method was used for genotyping. The data analysis was performed by Chi-square (χ2) and Fisher's exact tests. Results Genotyping analysis for LHCGR (rs2293275) polymorphism indicated that the frequency of C in the case group was significantly higher than in the control group (P<.05). Moreover, genotyping analysis for NR5A1 (rs1057517779) polymorphism indicated that the frequencies of the A allele and heterozygote GA genotype in the case group were significantly higher than those in the control group (P<.05). Conclusion Our study demonstrated that the SNPs of LHCGR (rs2293275) and NR5A1 (rs1057517779) genes may play a critical role in male infertility in the Iranian Azeri population. However, further studies on other ethnic origins with larger sample sizes are essential for accessing more accurate results. Moreover, functional experiments might be needed to understand the role of these polymorphisms in the molecular pathways involved in male fertility. (AU)

Correlation between LHCGR and NR5A1 genes polymorphism and male infertility risk.

INTRODUCTION: Infertility is one of the important phenomena in human reproduction. Genetic factors are the most important cause of male infertility. Here, we aimed to investigate the correlation between idiopathic male infertility and SNPs of the LHCGR (rs2293275) and NR5A1 (rs1057517779) genes in the Iranian-Azeri population. METHODS: This case-control study consisted of 100 males with infertility and 100 healthy males from the Iranian Azeri population. Genomic DNA isolation from whole blood samples and Tetra-primer amplification refractory mutation system-polymerase chain reaction (Tetra-ARMS-PCR) method was used for genotyping. The data analysis was performed by chi-square (χ2) and Fisher's exact tests. RESULTS: Genotyping analysis for LHCGR (rs2293275) polymorphism indicated that the frequency of C in the case group was significantly higher than in the control group (P < .05). Moreover, genotyping analysis for NR5A1 (rs1057517779) polymorphism indicated that the frequencies of the A allele and heterozygote GA genotype in the case group were significantly higher than those in the control group (P < .05). CONCLUSION: Our study demonstrated that the SNPs of LHCGR (rs2293275) and NR5A1 (rs1057517779) genes may play a critical role in male infertility in the Iranian Azeri population. However, further studies on other ethnic origins with larger sample sizes are essential for accessing more accurate results. Moreover, functional experiments might be needed to understand the role of these polymorphisms in the molecular pathways involved in male fertility.

Quasi-isothermal modulated DSC as a valuable characterisation method for soft tissue biomaterial crosslinking reactions.

Glutaraldehyde (Glut) is an extensively used sterilant and fixative for the crosslinking of natural soft tissue biomaterials like bovine pericardium (BP) to provide stability and is required for its application in vivo. There is plenty of debate around the reaction mechanism of Glut with natural biomaterials. Differential scanning calorimetry (DSC) is a commonly used technique that is typically used to measure the thermal profile of polymers. However, a variation known as quasi-isothermal modulated differential scanning calorimetry (QiMDSC) has been utilised for the analysis of polymorphic transformations in both the pharmaceutical and food industries. This communication will address QiMDSC as a method for analysing soft tissue biomaterials and their crosslinking mechanisms and how it can be applied to other biomaterial applications.

Assessment of the uniaxial experimental parameters utilised for the mechanical testing of bovine pericardium.

Bovine pericardium (BP) is an extensively used biomaterial utilised in a wide range of biomedical devices such as bioprosthetic heart valves. However, the mechanical testing techniques that assess soft biomaterial tissue like BP are varied with no common method utilised across the literature, producing variations and contradictions in reported values. Uniaxial testing is a common technique used to measure traditional mechanical characteristics of ultimate tensile strength (UTS), modulus and the percentage strain at failure. The aim of this study was to take two standard uniaxial test parameters, strain rate and the number of preconditioning cycles and to elucidate recommendations for the standardisation of a uniaxial method, while also measuring not so common parameters of low modulus and hysteresis. Samples post uniaxial testing were treated and analysed with scanning electron microscopy (SEM) and an imaging software (ImageJ) to measure the effect of the parameters on the crimping structure and orientation of the collagen fibres. The study recommends an extension rate of 10 mm/min and 5 preconditioning load-unload cycles as a starting point for the standardisation of a uniaxial testing method. The image analysis of the collagen structure carried out provides a quantitative assessment of the BP post mechanical testing and allows for a better understanding of the behaviour of BP under stress.

Surveillance of listeriosis in the Tel Aviv District, Israel, 2010-2015.

This study analyses the epidemiologic, clinical and molecular findings of all culture-confirmed cases of listeriosis notified from 2010 to 2015 in the Tel Aviv District, which is known to have high rates of listeriosis. All clinical isolates of Listeria monocytogenes were subtyped using two-enzyme pulsed-field gel electrophoresis. During the studied period, 102 cases of listeriosis were notified, including 23 pregnancy-associated cases (23%). Among 79 non-pregnancy-associated cases, 18 had neuro-invasive disease (21%). There were 26 deaths associated with the disease. Using molecular identification, we found a number of clusters of identical bacterial clones, which pointed to possible sources of infection. The high rates of morbidity and mortality resulting from listeriosis, as well as the diverse ways of infection demonstrated in this study, accentuate the need to boost public health actions, in order to raise awareness and better control high-risk contamination routes.

Cardiovascular response to exercise training in the systemic right ventricle of adults with transposition of the great arteries.

KEY POINTS: Patients with transposition of the great arteries (TGA) and systemic right ventricles have premature congestive heart failure; there is also a growing concern that athletes who perform extraordinary endurance exercise may injure the right ventricle. Therefore we felt it essential to determine whether exercise training might injure a systemic right ventricle which is loaded with every heartbeat. Previous studies have shown that short term exercise training is feasible in TGA patients, but its effect on ventricular function is unclear. We demonstrate that systemic right ventricular function is preserved (and may be improved) in TGA patients with exercise training programmes that are typical of recreational and sports participation, with no evidence of injury on biomarker assessment. Stroke volume reserve during exercise correlates with exercise training response in our TGA patients, identifying this as a marker of a systemic right ventricle (SRV) that may most tolerate (and possibly even be improved by) exercise training. ABSTRACT: We aimed to assess the haemodynamic effects of exercise training in transposition of the great arteries (TGA) patients with systemic right ventricles (SRVs). TGA patients have limited exercise tolerance and early mortality due to systemic (right) ventricular failure. Whether exercise training enhances or injures the SRV is unclear. Fourteen asymptomatic patients (34 ± 10 years) with TGA and SRV were enrolled in a 12 week exercise training programme (moderate and high-intensity workouts). Controls were matched on age, gender, BMI and physical activity. Exercise testing pre- and post- training included: (a) submaximal and peak; (b) prolonged (60 min) submaximal endurance and (c) high-intensity intervals. Oxygen uptake (V̇O2; Douglas bag technique), cardiac output (Q̇c, foreign-gas rebreathing), ventricular function (echocardiography and cardiac MRI) and serum biomarkers were assessed. TGA patients had lower peak V̇O2, Q̇c, and stroke volume (SV), a blunted Q̇c/V̇O2 slope, and diminished SV response to exercise (SV increase from rest: TGA = 15.2%, controls = 68.9%, P < 0.001) compared with controls. After training, TGA patients increased peak V̇O2 by 6 ± 8.5%, similar to controls (interaction P = 0.24). The magnitude of SV reserve on initial testing correlated with Q̇c training response (r = 0.58, P = 0.047), though overall, no change in peak Q̇c was observed. High-sensitivity troponin T (hs-TnT) and N-terminal prohormone of brain naturetic peptide (NT pro-BNP) were low and did not change with acute exercise or after training. Our data show that TGA patients with SRVs in this study safely participated in exercise training and improved peak V̇O2. Neither prolonged submaximal exercise, nor high-intensity intervals, nor short-term exercise training seem to injure the systemic right ventricle.

The effectiveness of mindfulness-based cognitive therapy on quality of life and loneliness of women with HIV.

Objective: The present study investigated the performance of Mindfulness according to the Cognitive approach on the Quality of Life and Loneliness of women with HIV. Methods: This research is a semi-experimental with pretest-posttest and check team, which was conducted in winter, 2014. In this research, 24 positive HIV women in Tehran were selected by volunteers sampling method and were stochastically related to either the control team (n = 12) or the MBCT groups (n = 12) and, the World Health Organization quality of life survey and the University of California Los Angeles loneliness scale were administrated as pretest. The MBCT team got eight sessions of mindfulness according to the cognitive theory and the check team got no intervention. At the end, the post-test was administrated to two groups and, covariance method was used for data analysis by SPSS-20 software. Findings: The results of the present study indicated that there were clear variations among the test groups check group and MBCT (p < 0.001). Therefore, Mindfulness-based Cognitive theory increased the mean quality of life and decreased loneliness. Conclusion: The findings indicated that the Mindfulness-based Cognitive therapy increased the quality of life and decreased loneliness in positive HIV women. Therefore, in order to modify the quality of life and loneliness in these cases, attention to these variables during clinical trials with the goal of an appropriate intervention, will be beneficial.

The impact of teaching psychological welfare on marital satisfaction and self-efficacy in nurses.

Objective: Proper psychological interventions for enhancing public health and mental welfare in nurses are of great importance. This study intended to explore the influence of the teaching psychological welfare on marital satisfaction and self-efficacy in nurses of Imam Khomeini hospital. Methodology: The method of the present study was semi-experimental with a pre-test post-test design and a control group. Hence, 24 nurses were selected from Imam Khomeini hospital, by using convenience sampling, and they were divided into two groups: experiment and monitoring. By using a 47-questions marital satisfaction questionnaire and a 17-questions general self-efficacy questionnaire, both groups were pre-tested. Then the test group, received lessons on psychological welfare within ten sessions, but the control group received no interventions. Afterwards, both groups were post-tested, and the data collected were analyzed by using descriptive and inferential statistics methods through SPSS software. Findings: Findings showed that teaching psychological welfare significantly increased marital satisfaction and self-efficacy in nurses (p < 0.001). Conclusion: From this research, it was concluded that teaching psychological welfare is an effective strategy for those with risky jobs like nurses, because it is highly efficient, especially when it is performed in groups, because it is cheap, and because it is acceptable by different working people.

Laparoscopic donor nephrectomy: an increasingly common cause for testicular pain and swelling.

INTRODUCTION: Laparoscopic donor nephrectomy (LDN) is now a well established method for kidney procurement from living donors. In our centre, LDN is currently offered only to donors suitable for left nephrectomy. The aim of this study was to investigate the incidence of testicular pain and swelling following LDN. METHODS: A total of 25 left-sided LDN male patients were assessed in a prospective structured interview together with a control cohort of 25 male patients who had undergone left-sided open donor nephrectomy (ODN). RESULTS: Data were collected on testicular pain, swelling, numbness, urinary symptoms and sexual dysfunction from all 50 patients (100% response rate). Of the 25 LDN patients, 11 (44%) experienced ipsilateral testicular pain and/or swelling. In most instances, pain was of immediate onset, mild to moderate in severity, lasted for a few days to several weeks and was associated with testicular swelling (10 of 11 cases). However, testicular pain and/or swelling were not apparent in ODN patients, with only 2 of 25 (8%) experiencing mild testicular pain, 1 of whom also had swelling. CONCLUSIONS: Testicular pain and swelling following LDN is a common problem. It is underreported in the literature and LDN should be included in the differential diagnoses of testicular pain and swelling. Further investigation is required to confirm our findings.

Venous thrombosis following intravenous injection of household bleach.

Sodium hypochlorite (NaClO) is used extensively as a disinfectant or bleaching agent. Most studies describe ingestion or inhalation route of this product with rare complication and fatalities. Despite global daily exposures, data about bleach injection is limited. Here we report intentional infusion of 20 mL, sodium hypochlorite 5% diluted in 500 mL normal saline 1.5 h prior admission. Clinical manifestation included local pain and edema. There were no laboratory abnormalities in the patient. Doppler sonography revealed thrombosis in superficial (antecubital and basilic) veins. Limb elevation, warm compress, and ibuprofen relived pain and edema after 3 days.

Contact lens disinfecting solutions antibacterial efficacy: comparison between clinical isolates and the standard ISO ATCC strains of Pseudomonas aeruginosa and Staphylococcus aureus.

PURPOSE: To evaluate the disinfectant properties of the three multipurpose contact lens disinfecting solutions available in Iran, against clinical isolates and the standard ISO ATCC strains of Pseudomonas aeruginosa and Staphylococcus aureus, based on the international organization for standardization (ISO) 14729 guidelines. METHODS: Three multipurpose solutions that were tested were ReNu Multiplus, Solo Care Aqua and All-Clean Soft. The test solutions were challenged with clinical isolates and the standard strains of P. aeruginosa(ATCC 9027) and S. aureus(ATCC 6538), based on the ISO Stand-alone procedure for disinfecting products. Solutions were sampled for surviving microorganisms at manufacturer's minimum recommended disinfection time. The number of viable organisms was determined and log reductions calculated. RESULTS: All of the three test solutions in this study provided a reduction greater than the required mean 3.0 logarithmic reduction against the recommended standard ATCC strains of P. aeruginosa and S. aureus. Antibacterial effectiveness of Solo Care Aqua and All-Clean Soft against clinical isolates of P. aeruginosa and S. aureus were acceptable based on ISO 14729 Stand-alone test. ReNu MultiPlus showed a minimum acceptable efficacy against the clinical isolate of S. aureus, but did not reduce the clinical isolate by the same amount. CONCLUSIONS: Although the contact lens disinfecting solutions meet/exceed the ISO 14729 Stand-alone primary acceptance criteria for standard strains of P. aeruginosa and S. aureus, their efficacy may be insufficient against clinical isolates of these organisms.

[Attitudes of general practitioners to pharmaceutical sales representatives in Sousse].

The therapeutic knowledge of physicians is the corner stone to the rational use of medicines; however information about medicines is generally obtained from the pharmaceutical industry via their sales representatives (reps). We aimed to identify general practitioners' (GPs) attitudes to pharmaceutical reps and the information they provide. We surveyed 140 GPs using a self-administered questionnaire. The response rate was 78% (72 GPs from the public sector and 68 from the private sector). About 10% of the GPs said they received daily visits from pharmaceutical reps; 84% of GPs considered them an efficient source of information and 31% said they might change their therapeutic prescribing following visits from these reps. Because of their positive perception of pharmaceutical reps, GPs are susceptible to the information they provide. Controlling the validity of the therapeutic information imparted by the pharmaceutical industry is thus a fundamental component of the programme for the rational use of medicines.

[Attitudes of general practitioners to pharmaceutical sales representatives in Sousse]

The therapeutic knowledge of physicians is the corner stone to the rational use of medicines; however information about medicines is generally obtained from the pharmaceutical industry via their sales representatives [reps]. We aimed to identify general practitioners' [GPs] attitudes to pharmaceutical reps and the information they provide. We surveyed 140 GPs using a self-administered questionnaire. The response rate was 78% [72 GPs from the public sector and 68 from the private sector]. About 10% of the GPs said they received daily visits from pharmaceutical reps; 84% of GPs considered them an efficient source of information and 31% said they might change their therapeutic prescribing following visits from these reps. Because of their positive perception of pharmaceutical reps, GPs are susceptible to the information they provide. Controlling the validity of the therapeutic information imparted by the pharmaceutical industry is thus a fundamental component of the programme for the rational use of medicines

[Circulation of pharmaceutical information among general practitioners in the region of Sousse (Tunisia)]. / Les moyens d'information pharmaceutique des médecins généralistes dans la région sanitaire de Sousse (Tunisie).

The general practitioner plays an essential role in the rational strategy of drug-use by the quality of his prescription which translates the validity and the relevance of his pharmaceutical information. The objective of this work is to study the different means of pharmaceutical information used by general practitioners in the region of Sousse (Tunisia). We conducted a transversal, descriptive, exhaustive survey of 140 general practitioners in private (68) and public (72) practice during 1999. Data were collected through a questionnaire. This study, with a participation rate of 78%, showed that pharmaceutical dictionaries are the major source of information for 86% of general practitioners, that medical delegates have a positive image for 84% of them and that 36% of general practitioners do not subscribe to any medical journal. Thus, general practitioners are exposed to relatively unreliable pharmaceutical information coming generally from the pharmaceutical industry.

Food allergy is a matter of geography after all: sesame as a major cause of severe IgE-mediated food allergic reactions among infants and young children in Israel.

OBJECTIVE: To determine the prevalence, importance, and the order of frequency of IgE-mediated food allergens among infants and young children in Israel. STUDY DESIGN AND PATIENTS: In a cross-sectional study, the prevalence of IgE-mediated food allergy was investigated in 9070 infants and young children (0-2 years) who were followed-up at 23 Family Health Centers (FHCs) in central Israel. Patients with suspected IgE-mediated food allergic reactions, were recruited for further evaluation (detailed questionnaire and skin-prick test (SPT)). RESULTS: We identified 150 out of 9070 (1.7%) patients with suspected IgE-mediated food allergy. Among them, 102/150 (67%) [59 males, 43 females; mean age 10.3 months] completed a detailed questionnaire and underwent SPT. Evaluation revealed 131 positive SPTs in 78/102 (76.5%) patients. Twenty-seven positive SPTs in 18 patients were considered clinically irrelevant based on previous consumption of the relevant foods without clinical symptoms. Thus, there were 104 relevant positive SPTs in 78 patients. The overall prevalence of clinically relevant IgE-mediated food allergic reactions among these patients is estimated to be 1.2% (104/9070). The most common food allergens were egg, cow's milk, and sesame. Anaphylaxis was the presenting symptom in 14/78 (18%) including six sesame-induced cases. A history of other atopic diseases was reported in 27 (35%) patients. In addition, 22 (28%) had a history of atopy in first-degree family members. CONCLUSIONS: We found sesame to be a major cause of IgE-mediated food allergy in Israel. In fact, it is second only to cow's milk as a cause of anaphylaxis. We recommend that testing for food allergens be tailored to each community based on local experience and should include sesame in appropriate populations.

[Subretinal neovascularization in angioid streaks]. / Néovascularisation sous rétinienne au cours des stries angioïdes.

Angoid streaks are linear crack-line dehiscences of Bruch's membrane. Choroidal neovascularization is the most serious complication of angioid streaks. The authors try to determine the incidence of neovascular macular degeneration in angioid streaks, their detection and treatment. A retrospective study of 26 eyes of 13 patients with angioid streaks was performed, 6 of whom had macular complications and 3 had subretinal neovascular membranes. Indocyanine green angiography is an adjunctive diagnostic tool in the detection of subretinal neovascular membranes in angioid streaks. Laser photocoagulation of choroidal neovascularization in angioid streaks may end the choroidal neovascularization and help stabilize visual acuity.