محمد شکاری

Thalassemia is a group of inherited hemoglobin disorders with defect in the synthesis of hemoglobin chains. 

Case:

The young couple resident in Bandar Abbas,  a 23 year old woman with MCV:63fl; MCH:19; HbA2:3.9  and  a 25 year old man with MCV:94fl; MCH:32; HbA2:2.1; HbF:36, were referred to the Bandar Abbas Medical Genetic & PND Center for genetic counselling before marriage. 

Conclusions:  

A rare CD139 mutation (AAT → GAT) was detected which led to substitution of Asparagine by Aspartic Acid in 139th amino acid in hemoglobin chain and created a hemoglobin variant named Hb Geelong. This is the first report for Hb-Geelong in Iran. It seems that this mutation affects the hemoglobin stability though a non-pathologic process and has a phenotype similar to minor β+ thalassemia.

Malaria is a major global public health problem and a leading cause of morbidity and mortality in many countries. Malaria elimination is the common goal of World Health Organization and the health system in Iran. Following a decline in malaria cases in recent years, the malaria elimination program, technically supported by the WHO, has initiated since 2009 in Iran. In order to successfully implement a malaria elimination program, all positive cases particularly low parasitemia and asymptomatic cases are required to be detected. The main objective of this study was to identify asymptomatic malaria infection in a low transmission area in Rudan district, Hormozgan Province, southern Iran.
In this cross-sectional study a total of 200 blood samples were randomly collected from symptomless residents of Rudan to evaluate Plasmodium infection rate where microscope, RDT and nested-PCR techniques were used.
According to the analysis of microscopic methods, RDT and Nested-PCR, no asymptomatic cases were seen among the participants.
The results of this investigation reveal that Malaria Elimination Program is administrable in Rudan district irrespective of low-parasitemia and asymptomatic cases.

Peptic ulcer is a common problem in medicine with serious impacts on the quality of life of patients. It has been shown that Helicobacter pylori infection is related with inflammatory responses of gastric mucosa. However, some patients remain asymptomatic. Sustained colonization and chronic inflammation increase the risk of gastritis and peptic ulcer. The aim of this study is to investigate the genetic polymorphisms of inflammatory cytokine IL-10 and its relationship with peptic ulcer and gastric inflammation.
In this study, 107 people with symptoms of stomach pain and indigestion referred to a doctor with an indication for endoscopy were selected as the patient group. 107 healthy people without complications such as stomach pain and indigestion were selected as the control group. IL-10-592A/C polymorphism was examined by Polymerase Chain Reaction-Restriction Fragment Length Polymorphism (PCR-RFLP).
No significant difference was found between the patients with peptic ulcer and chronic inflammation and healthy people in the control group in terms of the C allele in the IL-10 gene (P=0.99; 0.48-1.80, CI 95%, OR 0.93, and P=0.26; 0.57-1.13, CI 95%, OR 0.81, respectively).
The results showed no significant correlation between the inflammatory cytokine IL-10 gene polymorphisms and peptic ulcer disease and chronic inflammation.

Helicobacter pylori is the main cause of chronic inflammation and peptic ulcer. More than half of the world population is afflicted with Helicobacter, while only 20% of people show the clinical symptoms of the disease. Genes encoding the cytokines interleukin (IL)-1B play a key role in the inflammatory responses of gastric mucus. This study aims to analyze polymorphism in the IL-1B gene.
107 individuals who showed the symptoms of chronic gastritis participated in the treatment group. Individuals with no symptoms were considered as the control group. IL-1B�砋 polymorphism was analyzed through PCR-RFLP.
There is no association between the presence of the T allele in an IL-1B gene whit peptic ulcer and chronic gastritis as compared with control group (OR=0.66, CI=0.34-1.27, OR=0.75, CI=0.32-1.15) respectively.
Our results suggest that there is no association between IL-1B� C/T polymorphism and peptic ulcer disease and chronic inflammation.

Nowadays¡ in health promotion and disease prevention great emphasis is put on participatory community-based approaches. These approaches are considered as the main strategy of health promotion by using multiple interventions. Community assessment is a participatory research approach in which problems prioritization and resource distribution are done using information collected in a region aiming at promoting health of the community.
In this applied research community assessment was made in the Chahestaniha region in the City of BandarAbbas with the objective of identifying and prioritizing the main problems. The assessment consisted of eight phases¡ namely¡ the formation of a community assessment team¡ Primary and secondary data collection¡ data analysis and interpretation¡ combining district-level health statistics with community assessment data¡ reporting to the community¡ prioritizing health problems¡ and prepared a community assessment document. In the eighth phase¡ after considering all risk factors that cause high prevalence of Children head lice¡ the action plan was designed and implemented to solve the problems.
The Chahestaniha community assessment led to identifying 52 problems. The priority problems were classified. High prevalence of lice on children’s head was chosen as the top major problem to be solved¡ an action plan for solving it was developed and implemented.
The full cycle of community assessment methodology can be applied¡ with only some small changes¡ in most communities with different sizes¡ cultures¡ traditions and social habits. The method can obtain participation of the people in conducting the study and implementing interventions.

Community assessment is the process of collecting data about the community, identifying problems and prioritizing needs, with the participation of community members. The aim of this study was to identify and prioritize problems of Hormoz Island with the direct participation of local people.
This study was conducted based on North Carolina model and the study population were residents of the Hormoz Island in the south of Iran. The Problems of Island were identified through in-depth interviews and focus group discussions with residents, key informants, and some local authorities. Then, using nominal group technique and ranking problems the priorities were identified. Criteria for selecting the priorities included the magnitude, consequences, solving easiness and urgency of the problem.
In the community assessment process, totally 64 problems were identified and classified in six domains including health, food security, environment, social problems, economic problems, and management and substructure issues. Identified problems in the environment domain was more extended than other domains. Also the results showed that from the twenty priorities, nine of them were in social and economic domains
Identified problems included a wide range and in order to solve them, intersectoral activities, support of managers and administrators, and community participation is essential. Moreover, community assessment provide opportunities for active participation of community members and provide information for decision making.

Early diagnosis of bacteremia and its complications is the most important part of the care and management of the children. The utility of polymerase chain reaction (PCR) techniques has been shown to identify pathogens in less and more optimal time. The aim of our study was to evaluate the importance and prevalence of occult bacteremia using universal PCR of blood in 3-36 month children with fever without source in Pediatric Medical Center comparing other routine methods like blood culture.
100 febrile children in 3-36 month age suspected to Bacteremia with fever without source, who was admitted in children’s hospital of Bandar Abbas, were evaluated. All of them had negative blood culture. Blood samples were taken from all patients for PCR and other clinical tests such as CRP, ESR and CBC.
The mean temperature of the body was>39o c at presenting time. 23 patients had positive PCR test, which none of them had positive blood cultures. Laboratory findings such as WBC, ESR, and CRP had no significant difference to PCR results.
Universal PCR technique is more sensitive and specific than conventional blood culture and other methods to diagnose organism cause bacteremia

Breast cancer is the most common cancer among women and the second most common cause of cancer death. CHEk2 gene was known as a tumor suppressor gene which it plays a role in DNA repair. Germline mutations in CEHK2 have been associated with the cancer types in a number of countries. Therefore, the aim of this study was to investigate association between CHEK2 mutations and Breast Cancer in the Iranian population. This study involved 38 cases under the age of 45 and 62 cases over the age of 45. A blood samples were taken and DNA was successfully isolated from cases and healthy women. Multiplex PCR were used to investigate the association between a deletion in CHEK2 of 5,395bp CHEK2 gene mutations among 100 patients with breast cancer and 100 Normal controls. There were no significant differences between histopatological information in both groups. The del5395 mutation was not found in the patients and controls. For the first time, these results demonstrate that a deletion in CHEK2 large deletion in exon 9 and exon 10 mutations has not been a genetic susceptibility factor for breast cancer in the Iranian population.

Asymptomatic malaria is a great challenge in the control، elimination and eradication programs of the disease in the endemic areas. The infected individuals with asymptomatic malaria are not cured and are، consequently، a potential source for contamination of the mosquito vectors and spread of the disease in the area. Therefore، detection of asymptomatic infected people is very important as regards combating the disease. This study was conducted to determine the presence and prevalence of asymptomatic malaria in Jask district، Hormozgan Province، Iran during 2012-13، in the hope that the results will help in designing strategies to eliminate the disease in the area. A total of 200 persons under coverage of health centers in Jask district were selected randomly and enrolled in the study. From each subject a 5-ml blood sample was taken in 3 occasions (total number of samples = 600)، slides p repared and examined using microscopic and molecular (PCR) methods، as well as rapid diagnostic (RDT) tests. None of the 600 slides prepared microscopically showed any positive malaria case. Neither did any of those prepared by RDTs or Nested-PCR. The findings of this study indicate that implementation of the malaria control program has been successful in the area; therefore the malaria elimination program should continue.

Interface analysis methods are used to assess the man-machine interface of a particular system, product or device. Interface analysis methods can be used to assess a number of different aspects associated with a particular interface, including usability and user satisfaction. The purpose of this study is to evaluate the usability level of gas chromatographs that are being used in the laboratory of a petrochemical company. In this article, the usability of two gas chromatography systems was evaluated by laboratory experts who work with these devices and respect to ISO9241-11 in which the usability is considered along three dimensions: effectiveness, efficiency and satisfaction. The participant's satisfaction assessed using John Brooke's (1996) "System Usability Scale" questionnaire. SPSS 16.0 was used in the analysis of the data. The findings of this study demonstrated that both of the systems have acceptable levels of effectiveness and efficiency. Regarding the participant's satisfaction level, system 2 got higher score in compare with system 1. The results indicated that the participant's satisfaction scores are directly related to their work experiences with the systems. To assess the usability of a particular interface it is necessary to either make a comparison with another product or to define a target against which to make a judgment. The 10-item System Usability Scale (SUS) is a fast and reliable method to assess the usability.

In human malaria, genotype of cytokines affect immune system. The impact of genotype -137G/C in IL-18 and +874A/T in IFN-γ on the severity of malaria and the quality of treatment – as factors to form asymptomatic persons in endemic regions- has been investigated. 100 patients and 102 healthy persons were evaluated by Nested-PCR and thick blood film. IL-18(G-137C) and IFN- γ (A+874T) were determined by Single Specific Primer-Polymerase Chain Reaction and ARMS-PCR methods, respectively. The results were analyzed statistically. In this research, it has been observed that allele-T in IFN- γ gene and allele-C in IL-8 gene have protective effects against severity of Malaria. In addition, it has clearly been found that development and growth rate of plasmodium in µl of blood as well as anemia induced malaria significantly reduced in carriers of these alleles (p<0.0001). This effect has also been observed in the quality of the treatment in such a way that no parasite remained at the end of second day of treatment in carriers of alleles IFN- γTT and IL-18CC. These findings issue the impact of immunogenetypes of patients on treatment quality and asymptomatic patients and parasite reservoir as effective factors in endemic malaria. Immunogenetypes of people may play as a remarkable factor to control malaria in endemic areas.

β -thalassemia is the most common monogenic autosomal recessive all over the world. Therefore, identifying carriers and performing prenatal testing can prevent the birth of a new patient. Case: The young couple resident in Bandar Abbas with their son were referred to the Genetic Laboratory with hematological parameters that indicated minor thalassemia and implicated a symptom of an unknown hemoglobin in the father. Based on the genetic study, the father carried a rare mutation in CD56 (GGC > CGC) leading to Hb-Hamadan. In this study seems that Hb-Hamdan has no pathological effect and. This point is very important particularly in prenatal diagnosis (PND).

Investigation of accidents have shown that more than 90% of industrial accidents are related to human aspects. What is more, safe behaviors can not be institutionalized in industries by only using technical-engineering measures and enacting safety rules. Building a positive and effective safety culture can make individuals aware of hazards and consequently reduce accidents in the workplace. In this analytical-descriptive study, a standardized safety culture questionnaire was used. The questionnaire comprised of 40 question including five dimensions of: training, work environment, safety priority, information exchanges and management commitment. In this regard, the questionnaire was distributed among personnel of three laboratories in a petrochemical company. Five point Likert scale was for recording the responses. The mean score for safety culture was 136.7 for laboratory personnel which was considered positive according to the presented definition. In this sense, safety priority and management commitment with score of 31.9 and 25.2 obtained respectively the dimensions of safety culture. Strong and positive safety culture among laboratory personnel would prevent incidence of many occupational accidents. In another word, it would help organizations to facilitate access to higher standards.

One of the major questions in epidemiological and social science researches is studying the relationship of the living place with social and health outcomes. In this study، we measured segregation indices for a number of important socioeconomic indices using the 2006 Iranian census data to find out whether residential segregation is correlated with the available differences in the health level in the subgroups of certain variables. Twenty percent of the 2006 national census data was used for measuring segregation indices. Residential segregation indices were measured once for Hormozgan Province among its eleven cities and then for each city among theirs sections. Six segregation indices were measured. We used the common cut points for interpreting the values of dissimilarity index and information theory index. According to the dissimilarity and information theory index، the segregation of most of the variables in the province fell within the category of mild segregation. Segregation of the variables in some cities fell within the category of moderate، severe، and even extreme. The results indicated improper distribution of some of these variables in geographic units in some of the cities of Hormozgan Province. This information can help the authorities who are committed to implementing the health equity and social justice.

Essential hypertension (EH) accounts for 90-95% of hypertension cases. EH, as a progressive cardiovascular syndrome arising from complex and interrelated etiologies, results from combined and interactive effects of genetic and environmental factors. The objective was to investigate the ACE I/D and GNB3 C825T polymorphisms and both genotypes combined with seeking gene-gene interactions to further clarify the role of these genes in the pathogenesis of EH. Eight hundred and ten consecutive ethnic-matched unrelated north Indian subjects, 360 healthy controls from the general population and 450 patients, were enrolled. Plasma renin activity and plasma aldosterone concentration were measured. The variant GNB3 C825T was typed by SNaPshot and analyzed on Genetic Analyzer and GeneScan. Genotypes-combinations and gene-gene interactions were also performed. We found that the plasma ACE levels were higher in hypertensive patients than healthy controls. The ACE DD genotype was associated with the highest circulating ACE levels, ID heterozygotes were associated with intermediate and II heterozygotes with the lowest ACE levels in either patients or controls. Our data suggested a significant interaction between the GNB3 825T allele and the ACE D allele in CVD and likely EH. The patients bearing (DD + CT or ID + TT) and (DD + TT) combinations, respectively, showed a significant association with EH. Logistic regression revealed a 2.7-fold greater risk of hypertension associated with the (DD + CT or ID + TT) combination, and likewise, a 6.4-fold greater chance of hypertension was associated with the (DD + TT) combination. GNB3 C825T and ACE I/D gene-gene interaction in our study revealed that (DD + CT or ID + TT) and (DD + TT) combinations were significantly associated with EH and higher risk of hypertension, respectively. In a synergistic gene-to-gene interaction among the three polymorphisms, genotypic combinations containing three and/or four unfavorable alleles had a significantly increased chance of EH. These results strengthen the hypothesis that genotypic combinations are more important than a single gene polymorphism.