فهرست مطالب
Archives of Iranian Medicine
Volume:18 Issue: 10, Oct 2015
- تاریخ انتشار: 1394/08/13
- تعداد عناوین: 15
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Page 8BackgroundInequity in megacities is a real concern in public health perspective. Tehran is a megacity with more than 8 million population that is divided into 22 regions (counties) with considerable diversity in socioeconomic status. On the other hand, spatial cluster detection is an important tool in disease surveillance to identify areas of elevated risk and to generate hypotheses about disease or mortality etiology. The present research aims to identify high or low-risk clusters for five non-communicable leading causes of death in 22 regions of Tehran province.MethodsCause-specific mortality rates were extracted from Behesht-e-Zahra registry system for Tehran province in 2011. Spatial scan statistic as a most common method in spatial cluster detection was chosen to detect clusters with elevated risk of death. Given the observed and expected number death in each region, a log likelihood ratio (LLR) criterion was used to test whether a cluster is significant.ResultTwo high-risk and two low-risk clusters were detected for each cause of death. All these clusters were statistically significant with p-value less than 0.05. Mapping these clusters shows substantial differences between regions in Tehran. For mortality due to ischemic heart diseases, cerebrovascular diseases, hypertensive diseases, respiratory diseases, and stomach cancer, the high-risk clusters concentrated in southern half of Tehran and low-risk clusters were in northern half of Tehran. In the most situations, regions 2, 3 and 5 seemed to have lower rate of death comparing with other regions. On the other hand, regions, 16, 19 and 20 were in the high rate clusters.ConclusionThere was substantial disparity between regions of Tehran for five non-communicable causes of death studied in this article. Identifying factors affecting the observed differences is useful to set effective preventive interventions and can be investigated in future researches.Keywords: Cause of death [http:, www.ncbi.nlm.nih.gov, mesh, D002423], Tehran, non, communicable disease, spatial cluster detection, spatial scan statistic
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Page 15BackgroundCancer is one of the most common non-communicable diseases in both sexes and a major cause of disability and death around the world, as well as in Iran. The aim of the present manuscript is to report the results of the Global Burden of Disease study 2010 (the GBD 2010) to compare the results with the other similar findings. The paper also discusses the existing deficiencies of the GBD study. Our aim was to describe and criticize the attributed burden of cancers according to the GBD results by sex and age.MethodsThe GBD 2010 has profited from 100 collaborators worldwide and provides a vast network of data on health outcomes, vital registries, and population surveys. The GBD has used various scientific-approved methods to estimate important health statuses like death rates, life expectancy, and healthy adjusted life expectancy, disability-adjusted life years, years of living lost due to premature death and years of life with disabilities. In the present study, we extracted and graphed the GBD results for Iran in order to present a better scheme for readers.ResultsThe mortality rate of cancers in Iranians has increased by about 8.5%, the disability–adjusted life year rates have declined by about 9%, and years lost due to premature death have also decreased by about 10% from 1990 to 2010compared to an 85% increase in years of life with disabilities in the same time period.ConclusionThe burden of all non-communicable diseases (NCDs) including cancers showed decrease during the past two decades. However, these diseases still remain worldwide health challenge. Prevention should be considered as an important priority and responsibility. The health authorities also need to determine the burden of cancers at the national and sub-national levels for implementation of effective preventive strategies.Keywords: cancer, non, communicable, NCD, Burden, GBD, Iran
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Page 24BackgroundThe worldwide emergence of multi-drug resistant (MDR) bacteria in recent years has caused many problems for hospitals and patients, especially intensive care unit patients. Among these clinically important MDR bacteria are Acinetobacter baumannii complex species (A. baumannii, Acinetobacter genomic species 3 and Acinetobacter genomic species 13TU) that cause a wide range of infections.MethodsThe sequencing and bioinformatics analysis of a part of the Zone 1 of rpoB gene was performed for species identification of Acinetobacter isolates obtained from ICU patients with infected burns hospitalized in a hospital in Isfahan, Iran, over a 9-month period. Antibiotic sensitivity of Acinetobacter isolates was investigated using the disk diffusion method and different classes of antibiotics including amikacin, cefotaxime, ceftriaxone, ciprofloxacin, imipenem and piperacillin.ResultsAcinetobacter spp. were isolated from 10 of 80 (12.5%) investigated patients. All of the 10 Acinetobacter isolates were identified as Acinetobacter baumannii and multi-drug resistant according to antibiotic susceptibility tests.ConclusionOf the Acinetobacter baumannii complex members, only A. baumannii species was identified among the isolates obtained from patients with infected burns in an Isfahan hospital over a 9-month period.Keywords: Acinetobacter, burn patients, genomic species, infection multi, drug resistant
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Page 29BackgroundIntellectual Disability (ID) is one of the most common disabling impairments worldwide. Autosomal recessive ID (ARID), a genetically heterogeneous disorder, is more common in countries such as Iran where the rate of consanguineous marriages is high. Considering the social-economic burden of ARID in our country, it is crucial to find out whether couples who are cousins are carriers for disease causing mutations, in order to prevent the birth of an affected child.MethodsUsing exome sequencing, we screened known ARID genes in a normal individual to identify possible mutations in heterozygous form.ResultsWe identified four protein coding alleles which possibly affect protein function, in different ID genes: PMM2, RBM28, SLC19A3, and VPS13B.ConclusionThese findings can be used to prevent the birth of children with ARID by checking the other partner for possible disease causing variants.Keywords: Carrier screening, consanguinity, exome, intellectual disability, Iran
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Page 56BackgroundIntellectual disability (ID) is a neuro-developmental disorder which causes considerable socio-economic problems. Some ID individuals are also affected by ataxia, and the condition includes different mutations affecting several genes.MethodsWe used whole exome sequencing (WES) in combination with homozygosity mapping (HM) to identify the genetic defects in five consanguineous families among our cohort study, with two affected children with ID and ataxia as major clinical symptoms.ResultsWe identified three novel candidate genes, RIPPLY1, MRPL10, SNX14, and a new mutation in known gene SURF1. All are autosomal genes, except RIPPLY1, which is located on the X chromosome. Two are housekeeping genes, implicated in transcription and translation regulation and intracellular trafficking, and two encode mitochondrial proteins. The pathogenesis of these variants was evaluated by mutation classification, bioinformatic methods, review of medical and biological relevance, co-segregation studies in the particular family, and a normal population study.ConclusionsLinkage analysis and exome sequencing of a small number of affected family members is a powerful new technique which can be used to decrease the number of candidate genes in heterogenic disorders such as ID, and may even identify the responsible gene(s).Keywords: Ataxia, exome sequencing, gene, intellectual disability, recessive
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Page 69BackgroundThe purpose of this study was to investigate the association between Trp719Arg (rs20455) and Coronary Heart Disease (CHD), and also Coronary Heart Disease reduction in individuals with this SNP during statin therapy in southern Iran. It has been shown that rs20455, which could affect the function of kinesin protein, is associated with Coronary Heart Disease and could be an effective factor for patients who take statin therapy.MethodsPatients and control individuals were genotyped for rs20455 Single Nucleotide Polymorphism (SNP) using ARMS PCR (Amplification Refractory Mutation System Polymerase Chain Reaction) and RFLP (Restriction Fragment Length Polymorphism) analysis. The effect of kinesin family member 6 (KIF6) on statin therapy was also examined among patients who had a history of one or two heart attacks.ResultsIt was found that rs20455 had a significant association with Coronary Heart Disease (Odds Ratio [OR] 3.17, 95% Confidence Interval [CI] 1.68 to 5.98). In addition, statin therapy was more effective in rs20455 carriers than non-carriers, with 80% of the carriers showed positive response to this treatment.ConclusionsTrp 719Arg have an effect on development of Coronary Heart Disease but it is very useful for statin therapy. Overall, individuals with this Single Nucleotide Polymorphism can take statin therapy to prevent the catastrophic consequences of Coronary Heart Disease.Keywords: Trp 719Arg, KIF6, rs20455, CHD, Statin Therapy
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Page 74BackgroundThe genetic basis of longevity is an important field of study because the majority of supercentenarian cases experience healthy aging and may only show age-related diseases in their last few years of life. It is clear that genetic factors play an important role in survival beyond 90 years of age, but the exact relationship of genetic variants to this phenomenon remains unknown.ObjectiveThe aim of this project was to investigate different hypotheses that describe the relationship between genetic variants and human longevity in a living Iranian man by Whole Exome Sequencing.MethodsInitially, we conducted high quality DNA extraction on a peripheral blood sample. Then, whole exome sequencing was performed on the DNA and different bioinformatic software packages and databases were used to analyze the data. Tertiary analysis was performed on four genetic hypotheses for longevity.ResultsAnalysis showed that among 27 metabolic variants which are related to longevity, 18 variants encompassed the exceptional longevity allele. In comparison with the NHGRI GWAS catalog, the case had 58 trait-associated variants of which 11 were homozygous for the risk allele. We also discovered 25 novel variants within candidate genes for aging and longevity and we detected seven longevity-associated variants in the sample.ConclusionThis study was performed on just one sample and so the results cannot be interpreted as a generalized principle for other elderly societies, but this is the first step towards investigation of the genetic basis of longevity in Iran and provides an insight for further studies in the field of longevity.Keywords: Aging, Computational Biology Whole, exome sequencing, Iran, longevity
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Page 84BackgroundMultiple sclerosis (MS) is a chronic, demyelinating, autoimmune and also complex disease of the central nervous system the etiology of which is not completely defined; but both genetic and environmental factors are regarded as main factors in its susceptibility. HLA-DQB1*0602 is considered as one of the most important genetic factors in MS predisposition but contradictory results have been reported in different populations world-wide. Since there are no data with respect to the correlation of HLA-DQB1*0602 and multiple sclerosis in Khuzestan province, and because of ethnic diversity in Khuzestan province, the aim was to examine the association of this allele with multiple sclerosis in Khuzestan.MethodsThis is a case control study that evaluated 200 MS patients from Khuzestan and 200 healthy individuals from the same geographical region. DNA extraction was performed by salting out method; in addition, HLA typing was carried out by polymerase chain reaction amplification with sequence-specific primers (PCR-SSP) method. The present study also considered probable association among HLA-DQB1*0602 with sex, ethnicity, and type of disease.ResultsResults revealed that distribution of mentioned allele was not statistically different among cases and controls (61.5% vs. 64%, P = 0.605); furthermore, no association was shown between this allele and gender, ethnicity or type of disease.ConclusionOn the whole, our result is consistent with most of the other studies in Iran; but contrasts with most of the studies in European populations.Keywords: HLA, DQB1*0602, Multiple Sclerosis, PCR, SSP
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Page 99BackgroundBinary outcomes are common in prospective studies such as randomized controlled trials and cohort studies. Logistic regression is the most popular regression model for binary outcomes. Logistic regression yields an odds ratio that approximates the risk ratio when the risk of outcome is low. A consensus has been reached in an extensive argument in much of the literature that the risk ratio is preferred over the odds ratio for prospective studies. To obtain a model-based estimate of risk ratios, log-binomial regression has been recommended. However, this model may fail to converge and many methods have been provided as an alternative in these situations.MethodsIn this paper, we discuss the methods to obtain adjusted risk ratios in settings with independent and clustered data and we will review the results of comparisons between these methods based on simulation studies, especially a large simulation study which was conducted by the authors. We use hypothetical examples to show how log-Poisson regression with modified standard errors can be used to estimate risk ratio in practice using popular statistical software.ConclusionThe potential misinterpretation of odds ratios should be considered by researchers, especially when the risk of the outcome is high. When researchers want to estimate the effect of exposure or intervention by controlling potential covariates, the misinterpretation of odds ratios can be avoided using regression models that can estimate risk ratios instead of logistic regression. The log-Poisson regression with modified standard errors can be considered to estimate risk ratios in both independent and clustered data settings.Keywords: Binary outcome, log, binomial regression, prospective study, risk ratio, simulation
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Page 106Hyperparathyroidism is a complex clinical syndrome characterized by dysfunction in the metabolism of bone, calcium and phosphorus. Rheumatologic manifestations are common amongst patients with hyperparathyroidism. We report a 50-year-old woman with hypercalcemia, lytic bone lesions and inflammatory arthritis of both hands that were not resolved after parathyroidectomy. Laboratory evidence of elevated erythrocyte sedimentation rate, positive C-reactive protein (CRP) and high titers of anti-CCP and rheumatoid factor was diagnostic of rheumatoid arthritis (RA) according to European League Against Rheumatism criteria. Eventually, with the concomitant diagnoses of hyperparathyroidism and RA, she was treated with methotrexate and hydroxychloroquin.Hyperparathyroidism may present with rheumatologic manifestations, leading to an initial misdiagnosis. Furthermore, attention to this fact that hypercalcemia is not commonly associated with RA, and rather suggestive of a concomitant disorder, is crucial to the diagnosis of hyperparathyroidism in RA patients with hypercalcemia.Keywords: Hypercalcemia, hyperparathyroidism, musculoskeletal symptoms, rheumatoid arthritis
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Page 110Lichen planus (LP) is a chronic inflammatory mucocutaneous disorder with unknown etiology. Systemic lupus erythematosus (SLE) is known as a prototypic autoimmune disease. Cytokines play a key role in the pathogenesis of both diseases. Various cytokines, such as interleukin 6 (IL-6), interleukin 10 (IL-10), interferon alpha (INF-a), and Tumor Necrosis Factor-alpha (TNF-a) can serve as biomarkers to predict SLE severity and monitor disease activity. In this review, we compare interleukins in oral lichen planus and lupus erythematosus as an autoimmune disease prototype. So, this review may provide insight for researchers in completing the cytokine network in OLP.Among the etiologic factors, the imbalance between Th-1 and Th-2 cytokine production plays an important role in the development of both diseases. By understanding cytokines and immunoregulatory networks of cytokines in these patients, appropriate treatment can be offered.There are many limitations in cytokine studies, which we have described in this article.
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Page 120Here we commemorate the character and academic authority of Prof. Zabiholah Gorban (1903–2006), the founder of Shiraz medical school. No doubt, in the scope of history of contemporary medicine in Iran, he has been efficient and effective. With respect to this fact, his article on a rare case described in Acta anatomica published in 1966, entitled (Observations on a giant skeleton) is browsed and reviewed. A case named Siah Khan with combined acromegaly and gigantism that appears to have letters to say still after nearly half a century.Keywords: Acromegaly, gigantism, History of Medicine, Iran