Proinflammatory Cytokine Gene Polymorphisms in Irritable Bowel Syndrome

Introduction

Irritable bowel syndrome (IBS) is a multifactorial functional gastrointestinal disorder, characterized by recurrent abdominal pain and altered bowel habits. Proinflammatory cytokines can play an important role in intestinal inflammation, while their production is under genetic control.

Methods

This study was performed in a group of patients with IBS to analyze the genotype frequencies of a number polymorphic genes coding for proinflammatory cytokine (interleukin-6 (IL), tumor necrosis factor-alpha (TNF-α), and IL-1 group). Using polymerase chain reaction with sequence-specific primers method, the cytokine genes were amplified, and alleles and genotypes of 71 patients with IBS were detected on gel electrophoresis, and the results were compared with healthy control subjects.

Results

Results of the analyzed data showed that the frequencies IL-1R C allele at position Pst-I 1970 (P?=?0.017), IL-6 G allele at position ?174 (P?=?0.002), and TNF-α G allele at position ?238 (P?<?0.001) in the patient group were significantly higher than the control group. IL-6 GG genotype (?174) and TNF-α GG genotype (?238) in the patient group were also significantly overrepresented (P?<?0.001), while IL-6 CG genotype (?174) and TNF-α GA genotype (?238) were significantly decreased in the patients with IBS (P?<?0.001). The frequencies of IL-6 (?174, nt565) GG haplotype and TNF-α (?308, ?238) GG haplotype were also significantly higher in the patient group (P?<?0.001), whereas the frequencies of the haplotypes IL-6 CG and TNF-α GA were significantly decreased in the patients with IBS (P?<?0.001).

Conclusion

IL-6 and TNF-alpha proinflammatory cytokine gene polymorphisms could change individual susceptibility to IBS and might have a role in pathophysiology of disease.     

Gadolinium neutron capture brachytherapy (GdNCB), a new treatment method for intravascular brachytherapy

Restenosis is a major problem after balloon angioplasty and stent implantation. The aim of this study is to introduce gadolinium neutron capture brachytherapy (GdNCB) as a suitable modality for treatment of stenosis. The utility of GdNCB in intravascular brachytherapy (IVBT) of stent stenosis is investigated by using the GEANT4 and MCNP4B Monte Carlo radiation transport codes. To study capture rate, Kerma, absorbed dose and absorbed dose rate around a Gd-containing stent activated with neutrons, a 30 mm long, 5 mm diameter gadolinium foil is chosen. The input data is a neutron spectrum used for clinical neutron capture therapy in Studsvik, Sweden. Thermal neutron capture in gadolinium yields a spectrum of high-energy gamma photons, which due to the build-up effect gives an almost flat dose delivery pattern to the first 4 mm around the stent. The absorbed dose rate is 1.33 Gy/min, 0.25 mm from the stent surface while the dose to normal tissue is in order of 0.22 Gy/min, i.e., a factor of 6 lower. To spare normal tissue further fractionation of the dose is also possible. The capture rate is relatively high at both ends of the foil. The dose distribution from gamma and charge particle radiation at the edges and inside the stent contributes to a nonuniform dose distribution. This will lead to higher doses to the surrounding tissue and may prevent stent edge and in-stent restenosis. The position of the stent can be verified and corrected by the treatment plan prior to activation. Activation of the stent by an external neutron field can be performed days after catherization when the target cells start to proliferate and can be expected to be more radiation sensitive. Another advantage of the nonradioactive gadolinium stent is the possibility to avoid radiation hazard to personnel.     

The effect of educational package on functional status and maternal self-confidence of primiparous women in postpartum period: a randomized controlled clinical trial

Objective: The aim of this study was to determine the effect of a training package on functional status and self-confidence of primiparous women in the postpartum period.

Method: This randomized controlled clinical trial was conducted on 136 primiparous women who were referred to health centers in Tabriz, Iran, for their second postpartum care (10–15 days after delivery). These women were randomly assigned to education (n=?68) and control (n?=?68) groups. The education group was provided with a face-to-face training session, three phone sessions, and a booklet. The control group received the routine postpartum care on days 1–3, 10–15 and 42–60. Participants completed the functional status and maternal self-confidence questionnaires before the interventio n and eight weeks postpartum. Independent t, chi-square and Fisher’s exact tests were used for data analysis.

Results: No statistically significant difference was observed between the two groups in terms of sociodemographic characteristics, except for infant’s gender (p?>?.05). At six weeks after the intervention and by adjusting for baseline scores and infant’s sex, mean scores of functional status (adjusted mean difference: 0.9; 95% CI: 0.8–1.03, p?p?Conclusion: This study showed that training women has a positive effect in increasing their self-confidence and improving their functional status.     

Effect of sexual diary keeping and self-evaluation on female sexual function and depression: A pilot study

Objectives The aim of the trial was to assess the effect of self-evaluation and sexual diary keeping on female sexual function and depressive symptoms in women diagnosed with sexual dysfunction.

Methods A single-arm non-randomised trial included 30 women (53 ± 7 years of age) with female sexual dysfunction (Female Sexual Function Index [FSFI] < 27) and a stable partnership duration of 5–40 years. Female sexual function was assessed by sexual, psychological and gynaecological history taking and validated questionnaires including the FSFI, Female Sexual Distress Scale (FSDS) and Hamilton Depression Scale (HDS), before and after 4 weeks of sexual diary keeping.

Results A subjective improvement in communication of sexual problems was reported by 60% of participants; no participants reported any worsening of communication. FSFI and FSDS scores were, respectively, 18.0 ± 7.7 and 22.0 ± 10.0 at baseline and 20.2 ± 7.2 and 20.6 ± 11.5 after 4 weeks. HDS score decreased from 6.0 ± 4.0 at baseline to 4.4 ± 2.7 after 4 weeks (p = 0.042).

Conclusions Self-evaluation and sexual diary keeping may improve aspects of sexual life, such as couple communication, without a direct effect on variables measured with validated questionnaires on different domains of sexual function.     

Genetic Diversity in the G Protein Gene of Human Respiratory Syncytial Virus among Iranian Children with Acute Respiratory Symptoms

Objective

Acute respiratory infection (ARI) is the major cause of morbidity and mortality in children worldwide. Human respiratory syncytial virus (HRSV) is main viral agent of ARI in infants and young children in terms of effect and prevalence. The aim of this study was to investigate HRSV genotypes during one season in Iran.

Methods

In this cross-sectional study, 107 throat swabs were collected from children less than 5 years of age with acute respiratory infection from October to December 2009. The respiratory samples were obtained from several provinces: Tehran, Isfahan, Hamadan, Zanjan, Kordestan, Lorestan and West Azarbayjan, and were tested for G protein gene of HRSV by RT-PCR.

Findings

Of the 107 respiratory samples, 24 (22.42%) were positive for HRSV, of which 16 (66.6%) belonged to subgroup A and 8 (33.4%) to subgroup B. Phylogenetic analysis revealed that subgroup A strains fell in two genotypes GA1 and GA2, whereas subgroup B strains clustered in genotype BA.

Conclusion

This study revealed that multiple genotypes of HRSV cocirculated during the season 2009 in Iran. Also subgroup A strains were more prevalent than subgroup B strains, and genotype GA1 was predominant during the season.     

Serum Immunoglobulin Levels in Splenectomized and Non- Splenectomized Patients with Major Beta-Thalassemia

Objective

Thalassemia is a common disease in many countries, in which several complications such as infections can occur. Although aberration in the function of the immune system could be a reason for such complication, a little is known about the status of humoral immune system in major beta thalassemia. In this study we measured serum immunoglobulins level in a group of patients with major beta thalassemia.

Methods

Ninety nine patients with major beta thalassemia were enrolled in this study divided into two groups of splenctomized and not splenctomized patients. Serum IgG, IgM and IgA levels of these patients were measured and analyzed.

Findings

Serum mean levels of IgG and IgM in patients of all ages in both groups were normal. The mean serum IgA level in the group of not splenectomized patients aged less than five years as well as in the splenectomized patients aged more than twenty years was increased. However, it was normal in other age groups.

Conclusion

Although this study could not show any defect in the humoral immune system, evaluation of immunoglobulins could be useful to understand the relmarkable high rate of infection in the patients with major beta thalassemia.     

Clinical Presentation of Novel Influenza A (H1N1) in Hospitalized Children

Objective

Human pandemic influenza H₁N₁ virus as the cause of febrile respiratory infection ranging from self-limited to severe illness has spread globally during 2009. Signs and symptoms of upper and lower respiratory tract involvement, fever, sore throat, rhinitis, myalgia, malaise, headache, chills and fatigue are common. In this article we report the clinical presentation of Influenza A (H₁N₁) in our hospitalized children.

Methods

Between September and October 2009, all children requiring hospitalization for suspected H₁N₁ infection were transferred to Pediatric Infectious Diseases ward. For all patients the throat swab was taken for PCR testing to confirm or exclude the diagnosis of H₁N₁ Influenza A. Case patients consisted of H₁N₁-positive patients. Age, sex, symptoms, signs, laboratory data, CXR changes, details of therapy, duration of admission and patient outcome were documented.

Findings

Twenty patients were H₁N₁ positive. Mean age of the patients was 65.50±9.8 months. Fever and coughs were with 55% the most commonly reported symptoms. Other presentations included vomiting (55%), abdominal pain (25%), cyanosis and dyspnea (5%), body ache (40%), rhinorrhea (80%), sore throat (35%), head stiffness (5%) and loss of conciousness (5%). The median temperature of the patients was 38.5°C. Chest X-Ray changes were noted in 13 out of 20 patients (65%). Mean leukocyte and platelet was 6475 and 169000 respectively. Seventeen (85%) patients were treated with Oseltamivir, 3 patients received adjuvant antibiotics. The mean duration of admission was 3 days. Three patients required intensive care support and all of them expired due to superinfection.

Conclusion

Our data confirm that the presentation of influenza in children is variable and 2009 H₁N₁ influenza may cause leucopenia and thrombocytopenia.     

GJB2 mutations: passage through Iran

Hereditary hearing loss (HHL) is a very common disorder. When inherited in an autosomal recessive manner, it typically presents as an isolated finding. Interestingly and unexpectedly, in spite of extreme heterogeneity, mutations in one gene, GJB2, are the most common cause of congenital severe-to-profound deafness in many different populations. In this study, we assessed the contributions made by GJB2 mutations and chromosome 13 g.1777179_2085947del (the deletion more commonly known as del (GJB6-D13S1830) that includes a portion of GJB6 and is hereafter called Delta(GJB6-D13S1830)) to the autosomal recessive non-syndromic deafness (ARNSD) genetic load in Iran. Probands from 664 different nuclear families were investigated. GJB2-related deafness was found in 111 families (16.7%). The carrier frequency of the 35delG mutation showed a geographic variation that is supported by studies in neighboring countries. Delta(GJB6-D13S1830) was not found. Our prevalence data for GJB2-related deafness reveal a geographic pattern that mirrors the south-to-north European gradient and supports a founder effect in southeastern Europe.     

PTPN22 Single-Nucleotide Polymorphisms in Iranian Patients with Type 1 Diabetes Mellitus

Background: PTPN22 plays a crucial role in regulating the function of various cells of the immune system, particularly T cells. Polymorphisms of the PTPN22 gene have been associated with many autoimmune diseases, including type 1 diabetes (T1D) which is a T-cell-mediated disease.

Objective: The present study was aimed at genotyping of an Iranian population for five polymorphisms of the PTPN22 gene.

Methods: The study population consisted of 99 T1D patients and 100 healthy controls. We genotyped five single-nucleotide polymorphisms (SNPs) (rs12760457, rs1310182, rs1217414, rs33996649, and rs2476601) of the PTPN22 gene.

Results: Regarding the variant rs2476601, genotypes AG and GG were increased and decreased in T1D patients compared with controls, respectively. Further, alleles G and A of this SNP were found to be decreased and increased in T1D patients, respectively (p value = 0.001). However, T1D and control groups did not differ on genotype distribution or allele frequency for other investigated SNPs.

Conclusions: The PTPN22 rs2476601 minor allele (A) was associated with T1D in Iran, accounting for its pathophysiology in autoimmune diseases.     

Proinflammatory Cytokine Gene Polymorphisms among Iranian Patients with Asthma

Introduction  Asthma is one of the most common respiratory diseases caused by acute and chronic inflammation of airways. Proinflammatory cytokines could contribute to this inflammatory process. This study was performed in order to analyze the genetic profile of proinflammatory cytokines in Iranian asthmatic patients. Patients and Methods  The allele and genotype frequencies of a number polymorphic genes coding for tumor necrosis factor (TNF)-α, interleukin (IL)-1α, IL-1β, IL-1 receptor (IL-1R), IL-1RA, and IL-6 were investigated in 60 patients with asthma in comparison with 140 controls using polymerase chain reaction with sequence-specific primers. Results  The most frequent genotypes in our patients were TNF-α GA at position −308 (P = 0.001), TNF-α AA at position −238 (P = 0.01), IL-1α TC at position −889 (P = 0.0001), IL-1β TC at position −511 (P = 0.0001), and IL-1RA TC at position Mspa-I 11100 (P = 0.001). In contrast, the frequencies of the genotypes TNF-α GG at position −308 (P = 0.001), IL-1α CC at position −889 (P = 0.005), IL-1β CC at position −511 (P = 0.0001), and IL-1RA TT at position Mspa-I 11100 (P = 0.0001) in the patient group were significantly lower than controls. The most frequent haplotypes for TNF-α (positions 308, −238) was A/A in the patient group in comparison with controls (P = 0.0001). Conclusion  While environmental factors are important in the development of asthma, genetic factors could have a critical role in the expression of the disease. Considering the high frequency of presence of TNF-α AG genotype (−308), it seems that the production of TNF-α in the asthmatic patients could be higher than normal subjects.