2022 Impact Factor: 1.5
2023 CiteScore: 2.6
pISSN: 1735-1502
eISSN: 1735-5249
Chairman:
Mostafa Moin, M.D.
Editors-in-Chief:
Masoud Movahedi, M.D.
Vol 11, No 4 (2012)
Articles
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Asthma is considered as a chronic inflammatory airway disease and defined as increased tracheobronchial responsiveness to variety of stimuli. Edema and inflammatory cell infiltration in airway is observed in the asthmatic patients. One of the essential changes in inflammation is adhesion of leukocyte to endothelium and transmigration of leukocytes to the sites of inflammation. Unfortunately, little is known about the role of platelet endothelial cell adhesion molecule-1 (PECAM-1) polymorphism in asthma inflammatory process. The purpose of this study was to determine whether PECAM-1 polymorphisms affect the risk of asthma or not.Forty-five asthmatic patients (including 27 men and 18 women) and 45 healthy volunteers (11 men and 34 women) were studied. To determine the severity of the asthmas situation, a questionnaire was prepared asking the following information: age, sex, clinical signs and symptoms and past medical history. All subjects were genotyped for PECAM-1 polymorphism by using amplification refractory mutation system -polymerase chain reaction (ARMS-PCR). The genotype distribution of PECAM-1 80 Val/Met polymorphism in all asthmatic patients were Val/Val while non asthmatic controls were 95.6% Val/Val and 4.4% Val/Met. However, these differences were not statistically significant (p<0.05). The allele and genotype frequencies of PECAM-1 125 Val/Leu polymorphism were significantly different between asthmatic patients and controls. On the other hand, the presence of 125 Leu allele was associated with an increasing risk of asthma with an odds ratio of 2.8 (95% CI; 1.5-5.3, p=0.002). Our findings suggest that the PECAM-1 125 Val/leu polymorphism might be a genetic factor that may be associated with asthma.
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The aim of this study was to analyze 22 cytokine polymorphisms in the Roma population from the Republic of Macedonia. The Roma population consists of 77 healthy unrelated individuals, residents of different geographical regions of the Republic of Macedonia (Skopje, Gostivar, and Kochani). Blood samples were collected after obtaining written consent. DNA was isolated from peripheral blood and 22 polymorphisms were typed: IL1A -889, IL1B -511, IL1B +3962, IL1R pst1 1970, IL1RN mspa11100, IL4RA +1902, IL12 -1188, IFNG utr5644, TGF-β1 cdn10, TGF-β1 cdn25, TNF-α -308, TNF-α -238, IL-2 -330, IL-2 +166, IL-4 -1098, IL-4 -590, IL-4 -33, IL-6 -174, IL-6 565, IL-10 -1082, IL-10 -819, and IL-10 -592. Cytokine genotyping was performed by PCR-SSP. The population genetics analysis package, PyPop, was used for analysis of the cytokine data. Fnd was negative and significantly different from 0 for IL-4 -590 (p of F=0.006), IL-10 -1082 (p of F=0.010), IFN utr5644 (p of F=0.024), IL-4 -1098 (p of F=0.026) and TGF-1 cdn25 (p of F=0.001) alleles, as well as for IL-2 haplotypes (p=0.025). Several SNPs (IL-12B -1188, IL-2 -330, IL-4 -1098, IL-4 -590, and IL-10 -1082) were not in HWP (p<0.05). A few SNPs (IL-12B -1188, IL-2 -330, IL-4 -1098, IL-4 -590, and IL-10 -1082) and several observed frequencies of cytokine diplotypes (IL-2/GG:TG, IL-2/TG:TG, IL-4/GCC:GCC, IL-4/TTC:TTC, IL-4/TTT:TTC, IL-10/GCC:GCC, IL-10/ATA:GCC, IL-10/ACC:GCC, and IL-10/ACC:ATA) were not in HWP and were significantly different from the expectations. Hardy Weinberg proportion could not be calculated for TNF genotypes and diplotypes because nearly all genotypes and diplotypes belong to GG genotype or GG:GG diplotype. The results of cytokine polymorphisms in Roma population can be used for characterization of the current genetic profile of the Gypsies, anthropological comparisons, as well as for the association studies with different diseases.
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Ankylosing Spondylitis (AS) is an inflammatory arthritis, which affects mainly spine and sacroiliac joints. According to recent studies, ERAP1 is the second most common candidate gene for AS susceptibility after HLA-B27. The aim of this study was to determine the association of ERAP1 gene polymorphisms with AS in Iranian population.
The study group comprised 387 Iranian AS patients and 316 healthy controls from Iran.
Using Real Time PCR allelic discrimination method, we genotyped four SNPs (rs30187, rs469876, rs13167972 and rs27434) of ERAP1.
We found that rs30187 and rs27434 were significantly associated with AS in Iranian population (P=6×10-5, P=7×10-3, respectively). The rs30187 T/T genotype was associated with AS compared with C/C genotype (P=1.5×10-5). The rs27434 G/G genotype was inversely associated with AS (P=5×10-3). Two specific haplotypes including: rs30187/ rs469876/ rs13167972/ rs27434 TAAA and CAGG were associated with increased and decreased risk of AS in Iranian population, respectively.
These results indicated that ERAP1 SNPs and haplotypes were associated with AS in Iranian population. -
Asthma control and quality of life are expected to be correlated. We aimed to evaluate the association of asthma control test (ACT) with asthma quality of life questionnaire (AQLQ) and guideline based control assessment. We also aimed to investigate the impact of therapy adjustment according to ACT score on AQLQ A total of 101 asthmatic patients were included. ACT, AQLQ and Global Initiative for Asthma (GINA) based control assessments were performed. Based on ACT, treatment was adjusted by stepping down in controlled and stepping up in uncontrolled/partly controlled patients. In some controlled/partly controlled patients, no therapy adjustment was done. After 3-months the same parameters were reevaluated.We found a statistically significant association between ACT and AQLQ, a one point increase in ACT was associated with a 0.129 point increase in AQLQ. ACT scores increased significantly in the step-up group; however AQLQ total scores were not affected after therapy adjustment. We found that ACT was concordant with GINA recommended control classification in the first (kappa=0.511, 7.718) and third months (kappa=0.599, 7.912) (P<0.001 for both).We determined an association between ACT and AQLQ. ACT was also found fairly concordant with GINA. However, treatment adjustment according to ACT was not found satisfactory in terms of quality of life.
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The immune response to hepatitis B surface antigen (HBsAg) is influenced by several factors, of which HLA antigens and balanced secretion of Th1/Th2 cytokines play important roles. The aim of this study was to evaluate the influence of HLA antigens on cytokine secretion by HBsAg-stimulated peripheral blood mononuclear cells (PBMC) from healthy neonates vaccinated with recombinant HBsAg. PBMCs were isolated from 48 Iranian neonates vaccinated with a recombinant HBV vaccine. The cells were stimulated in vitro with rHBsAg and the concentration of IL-4, IL-10, IL-12 and IFN-γ were quantitated in culture supernatant by sandwich ELISA. HLA typing was performed by microlymphocytotoxicity method. Significant diminished secretion of both Th1 (IFN-γ) and Th2 (IL-4, IL-10) cytokines was observed in HBsAg-stimulated PBMC from vaccinees expressing the HLA-DR7 compared to DR7 negative vaccinees. Similarly, lower production of these cytokines was also observed in vaccinees with DR7-DR53-DQ2, B7-DR7-DR53-DQ2 and A2-DR7-DR53-DQ2 haplotypes (p<0.05, p <0.005). While HBsAg-stimulated PBMC of DR13+ subjects produced lower levels of Th2-type cytokines (IL-4 and IL-10), those of HLA-B8+ or HLA-A9+ subjects produced higher levels of Th2-type cytokines. Cytokine secretion in response to PHA mitogen was not associated with a given HLA antigen or haplotype and was similarly represented in all groups of subjects irrespective of their HLA complex. These results indicate that HLA antigens may differentially influence cytokine secretion by HBsAg-specific T-cells of healthy neonates vaccinated with recombinant HB vaccine. This phenomenon may have an important implication for control of the immune response to HBsAg vaccine.
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Hedera helix is widely used to treat bronchial asthma for many years. However, effects of this herb on lung histopathology is still far from clear. We aimed to determine the effect of oral administration of Hedera helix on lung histopathology in a murine model of chronic asthma.
BALB/c mice were divided into four groups; I (Placebo), II (Hedera helix), III (Dexamethasone) and IV (Control). All mice except controls were sensitized and challenged with ovalbumin. Then, mice in group I received saline, group II 100 mg/kg Hedera helix and group III 1 mg/kg dexamethasone via orogastic gavage once daily for one week. Airway histopathology was evaluated by using light and electron microscopy in all groups.
Goblet cell numbers and thicknesses of basement membrane were found significantly lower in group II, but there was no statistically significant difference in terms of number of mast cells, thicknesses of epithelium and subepithelial smooth muscle layers between group I and II. When Hedera helix and dexamethasone groups were compared with each other, thickness of epithelium, subepithelial muscle layers, number of mast cells and goblet cells of group III were significantly ameliorated when compared with the group II.
Although Hedera helix administration reduced only goblet cell counts and the thicknesses of basement membrane in the asthmatic airways, dexamethasone ameliorated all histopathologic parameters except thickness of basement membrane better than Hedera helix. -
Allergic Rhinitis (AR) is a common global health problem with approximately one quarter of the world population affected. The Quality of Life (QOL) of sufferers with AR is significantly affected. The aim of this study was to evaluate the QOL of adults with AR. This study was designed for adults with AR above 18 years old. The study was conducted using a valid Rhinitis Quality of Life Questionnaires (RQLQ) which was completed for each patient during clinic visit and analyzed by applying statistical methods. One-hundred and ten AR patients participated in this study. Mean age of these patients was 32 years old and 62% were female.
The correlation between severity of AR and QOL impairment was significant. Frequencies of mild persistent, moderate-severe persistent, mild intermittent and moderate- severe intermittent types of AR were 18%, 34.5%, 9% and 38%, respectively. Completed RQLQ indicated that about 55% of the cases were suffering from severe disturbances in their QOL. Furthermore, congestion (88%) was the most common symptom. The correlation between congestion and QOL reduction was significant. The correlation between congestion and sleep impairment was significant. AR was more common in young as well as female patients and their QOL was affected more than the others. The results showed a good relevancy between severity of symptoms and QOL scores.
Consisting with ARIA classification, it was found that reduction in the quality of life is higher in patients with moderate-severe intermittent and persistent asthma. Nasal congestion was a bothersome and prevalent symptom in AR that was responsible for sleep problems. Therefore, nasal congestion was associated with sleep-disordered breathing, nocturnal sleep impairment, day time fatigue and somnolence which finally lead to QOL impairment. -
We aimed to study the MnTnHex-2-PyP effect on some markers of lung antioxidant defence system in mice asthma model.The study was carried out on 28 C57B1/6 mice divided into four treatment groups: group 1 - controls; group 2 - injected and inhaled with ovalbumin; group 3 - treated with MnTnHex-2-PyP and inhaled with phosphate buffered saline; group 4 - injected with ovalbumin and MnTnHex-2-PyP but also inhaled with ovalbumin. On days 24, 25 and 26, mice from groups 1 and 2 were inhaled with PBS for 30 min, and those from groups 2 and 4 were given a 1% ovalbumin solution. One hour before inhalation, and 12 hours later the animals from groups 1 and 2 were injected i.p. with 100 μl PBS, and those from groups 3 and 4 received a 100 μl MnTnHex-2-PyP solution in PBS, сontaining 0,05mg/kg. The animals were killed by exsanguination 48 hours after the last inhalation for obtaining a lung homogenate. The activities of superoxide dismutase, catalase, glutathione peroxidase and the non-protein sulphhydryl group content in the lung homogenate were investigated. Ovalbumin decreased the activities of superoxide dismutase (p=0.01), catalase (p=0.002), glutathione peroxidase and non-protein sulphhydryl groups content (p<0.001) in comparison to controls. In group 4 (ovalbumin and MnTnHex-2-PyP) the activities of superoxide dismutase (p=0.044), catalase (p=0.045), glutathione peroxidase (p=0.002), and the non-protein sulphhydryl groups content (p<0.001) were significantly increased compared to ovalbumin (group 2).MnTnHex-2-PyP restored the activities of basic enzymes in the lung antioxidant defence system in ovalbumin-induced asthma mice model, 48 hours after the last nebulization.
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Febrile convulsion (FC) is the most common type of seizure in childhood that occurs in 2-5 % of the children younger than 6 years. Interleukin 1β (IL-1β) is a cytokine that contributes to febrile inflammatory responses. There are conflicting results on increasing this cytokine in serum during FC. Thus we measured IL-1ß in febrile children with or without seizure.
60 febrile children (6 months to 5 years old) were divided in two groups, one group consisted of 30 children with FC, the other group consisting of 30 children without seizure which served as control. Blood samples were collected from members of both groups and serum samples were prepared. Interleukin 1β concentrations were measured using a commercial Enzyme-linked immunosorbent assay (ELISA) kit.
We found that there was a difference in serum levels of Interleukin 1β between FC and control group but it was not significant. This result may be due to the low number of samples or the result of Interleukin 1β binding to some large proteins such as α2- macroglobolin, complement and soluble type 2 Interleukin 1 receptor, that affected the free Interleukin 1β concentration.
We could not find a significant relationship between serum Interleukin 1β concentration and FC. -
Chronic granulomatous disease (CGD), a rare inherited primary immunodeficiency disorder, is caused by mutation in any one of the genes encoding components of nicotinamide adenine dinucleotide phosphate (NADPH)-oxidase enzyme. NCF2 gene (encoding P67-phox component) is one of them and its mutation is less common to cause CGD (around 5-6%). Here, we assessed mutation analysis of NCF2 in 4 CGD patients with p67-phox defect in Iran.
These patients showed classical CGD symptoms. NCF2 sequence analyses revealed two different homozygous mutations including a nonsense mutation in exon 4, c.304C>T (Arg102X) in one case and a CA deletion in exon 13 (Leu346fsX380) in one brother and sister;the latter is a new mutation which has not been reported in previous studies.
In another patient in whom the attempts to amplify exon 2 individually from genomic DNA were unsuccessful, PCR amplification of exon 2 revealed no band of this exon on agarose gel. A PCR amplification mix of exon 2 and exon 7, with an internal control, confirmed the lack of exon 2 in this patient. Although a gross deletion in other exons of NCF2 has been previously reported, a large deletion encompassing exon 2 has been not reported yet. This abstract was also presented in ESID 2012, Florence, Italy. -
Wiskott-Aldrich syndrome (WAS) is a life-threatening X-linked recessive immunodeficiency disease described as a clinical triad of thrombocytopenia, eczema, and recurrent infections, caused by mutations of the WAS protein (WASP) gene. The milder form of this disease is X-Linked thrombocytopenia (XLT) that presents only as platelet abnormalities. Mutation analysis for 15 boys with Wiskott-Aldrich syndrome was performed. Five previously reported mutations and six novel mutations including G8X, R41X, D283E, P412fsX446, E464X, and AfsX358 were detected.
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EDITORIAL
