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Showing 17 results for Gholami

Mahdi Sharif, Masoud Keyghobadi, Hajar Ziaei, Jamshid Izadi, Shirzad Gholami, Alireza Khaliliyan,
Volume 8, Issue 2 (7-2005)
Abstract

Introduction: Different strains of Echinococcus Granulosus have been found in endemic areas of Iran. This variation has a significant aspect in the field of medical parasitology and veterinary and also in epidemiology, pathology, control and prevention of Hydatid cyst infection. Morphology, epidemiology and biochemical studies can be carried out to determine Hydatid cyst strains in human and animal origins as host. This study was done to measure different biochemical compositions of liver Hydatid cyst fluids in human, sheep, goat, cattle and camel in 2004.
Materials and Methods: In a cross sectional-analytical study, 112 samples of Hydatid fluids were collected from the liver cysts of different hosts: 16 sheeps, 64 cattles, 12 goats and 10 camels in slaughter houses of Sari and Ghaemshahr and 10 human in Imam hospital. All cyst fluids were centrifuged at 4500 rpm at 4˚C for 45 minutes and the supernatants were analyzed for various biochemical parameters.
Results: Quantitative differences were observed in the levels of Sodium, Glucose, Urea, Alanin Aminotransferase (AST) in liver cystic fluids obtained from different hosts, although these differences were not statistically insignificant. However, differences in the levels of Potassium, Calcium, Triglycerides, Cholesterol, Uric acid, Creatinin, Albumin, Gamma Glutamyl Transferase, Aspartat Aminotransferase (AST) and Creatinine Phosphokinase (CPK) in different Hydatid cyst fluids were statistically significant (P<0.05).
Conclusion: Differences in biochemical composition of different Hydatid cyst fluids suggest the possible existence of more than one strain of Echinococcus Granulosus in human and other intermediate domestic animal hosts in Mazandaran.
Mohammad Gholami Fesharaki, Mohsen Rozati, Amir Hossin Tanhai,
Volume 13, Issue 4 (1-2011)
Abstract

Background: High blood pressure (HBP) is one of the effective risk factors for many diseases. Hence, a variety of studies have been done for identifying its risk factors which have led to the diagnosis of different factors, among which working on shift work (WSW) can be mentioned. In this longitudinal study, we deal with the effect of WSW on BP by controlling the confounding factors through GEE regression which is a powerful tool for correlational and longitudinal data analysis. Materials and Methods:In this retrospective cohort study, data collection was done through annual observations of health and safety executive (HSE) center of Mobarakeh Steel Company (MSCO) of Isfahan on the workers in 2007-2009. For data analysis, systolic blood pressure (SBP) and diastolic blood pressure (DBP) were regarded as dependent variables, whereas body mass index (BMI), age, education level (EL), and shift work were considered independent variables. SPSS version 15 was used to apply GEE regression to the assessment of parameters corresponding to the factors causing change in SBP and DBP. Results: Of the independent variables, BMI and age had a significant relationship with SBP and DBP however, the results did not indicate any significant relationships between BP and WSW and EL. Conclusion: In this study, there was not a significant relationship between shift work and BP. This can be attributed to the likelihood of SWS being healthier, as well as the flexibility of work hours, income, and more intervals for shift workers in comparison to day workers.
Mohammad Gholami Fesharaki, Esfandyar Azadmarzabadi,
Volume 14, Issue 3 (7-2011)
Abstract

Background: Noticing the importance of measuring physical activity in medical investigations, this study was conducted to analyze the validity and reliability of the researcher-made Physical Activity Questionnaire (AFPAQ) of Azad and Fesharaki, so as to achieve a suitable tool. Materials and Methods: In this cross-sectional study, the sample population all army men selected through two-stage cluster sampling according to Morgan samples table. After investigating content validity, confirmatory and explanatory factor analysis, Pearson correlation (using general health questionnaire (GHQ) and test-retest coefficient were used to examine construct and predictive validity, respectively. Data analysis was done using SPSS software version 15 and Amos version 16. Results: This study was done on 724 subjects including 54 (7.3%) women and 685 (92.7%) men. The CVR coefficient was 60% for this study. Also, explanatory factor analysis showed three factors, including physical activity at work, physical activity at leisure time, and exhaustion with 45% total variance and 71% Kaser-Meyer-Olkin Index. These factors were also confirmed by confirmatory factor analysis (AGFI=0.963, RMSEA=0.053). The reliability of the questionnaire was %40 and %70 using Cronbach's Alpha and test-re-test method, respectively. Conclusion: Since validity and reliability indexes of the questionnaire were reported desirable, AFPAQ can be considered a valid and reliable questionnaire for measuring physical activity
Mohammad Gholami Fesharaki, Davood Talebian, Zohreh Aghamiri, Masome Mohamadian,
Volume 14, Issue 5 (11-2011)
Abstract

Background: This study was done to assess the validity and reliability of Najmie Job Satisfaction Questionnaire (NJSQ) in order to provide a suitable tool for measuring job satisfaction (JS). Materials and Methods: In this cross-sectional study, 212 staff members at Najime Subspecialty Hospital were selected by stratified sampling method. The participants took NJSQ. After evaluating content validity, confirmatory and explanatory factor analysis and Cronbach's Alpha were used to examine construct validity and reliability of the questionnaire, respectively. SPSS software version 16 was used to analyze the data. Results: The samples, 212 subjects, consisted of 181 (86.6%) women and 28 (13.4%) men. The explanatory factor analysis showed 4 factors with 54% total variance and 0.82% Kaser-Meyer-Olkin index. These factors were also verified by confirmatory factor analysis (P=0.368). In addition, the reliability of the questionnaire was reported to be 0.88% based on Cronbach's alpha method. Conclusion: Since validity and reliability indexes were reported suitable, NJSQ can be considered a valid and reliable questionnaire for measuring JS.
Somayeh Dehghani , Ahmad Jonidi Jafari, Mahdi Farzadkia, Mitra Gholami,
Volume 15, Issue 7 (December 2012)
Abstract

Background: Nowadays, international concern about the impact of antibiotic residues on the environment increased and their removal has received a lot of consideration. The aim of this study was to investigate the efficiency of Fenton’s advanced oxidation process (H2O2/Fe+2) in sulfadiazine antibiotic removal from aqueous solutions. Materials and Methods: An experimental-laboratory scale study was done on a synthetic wastewater containing sulfadiazine antibiotic with 0.079, 0.19, and 0.47 mM concentrations under Fenton’s process. Then optimal values of affecting parameters, such as initial antibiotic concentration, molar ratio of reagents, [Fe+2] and [H2O2] concentration, detention time, and pH, were determined. The discharged effluent analyzed by HPLC-UV to identify the antibiotic residues. Results: The results showed that the optimal parameters in the Fenton’s oxidation process to remove the sulfadiazine included antibiotics at pH 3.5, molar ratio of [H2O2] / [Fe +2] equal to 1.5, and contact time of 15 minutes, respectively. In these optimal conditions, the efficiency of removal of antibiotic in concentrations of 0.079, 0.19, and 0.47 mM were 99.82%, 97.97% and 78.23% and the wastewater COD removal degrees were 83.33%, 78.57%, and 78.57%, respectively. Conclusion: The experiments showed the efficient removal of sulfadiazine antibiotic in wastewater by Fenton’s oxidation process. The efficiency of this method can also be considered in eliminating other antibiotics resistant to biological treatment
Narges Bigane, Mohammad Gholami Fesharaki, Zeynab Hasani Nasab, Mehdi Habibi,
Volume 16, Issue 2 (5-2013)
Abstract

Background: Urinary incontinence is a very common problem affecting the quality of life of many people, especially women. Hence, this study was done to investigate the results obtained from intravaginal slingplasty (IVS) method in treating stress urinary incontinence (SUI) in patients.

Materials and Methods: This retrospective study was carried out as census on female patients suffering from SUI who had been treated using IVS method in Najmieh Subespeciality Hospital, Tehran, during 2004-2009 years. Data were extracted through interviews and from patients’ medical records. Descriptive statistics (mean and percent) and inferential statistics (independent t-test and its exact version, Bootstrap, Chi-square test, and Fisher’s exat test) were utilized and data were analyzed using SPSS software.

Results: A total of 357 women with mean age of 45.18±8.78 years participated in this study. Recovery rate of emergency and stress-related SUI by IVS method were 80.1% and 98%, respectively. In addition, urgency SUI had statistically significant correlations with diabetes, blood pressure, age, total number of deliveries, and normal vaginal delivery (NVD). Also, stress-related SUI had significant correlations with post-void residue (PVR), total number of delivery, NVD, and cesarean section.

Conclusion: Generally, it can be concluded that treatment response of IVS in this study is comparable and even better than other existing and customary modes of treatment


Zahra Bavand, Shirzad Gholami, Soheila Honari, Bahman Rahimi Esboei, Negin Torabi, Hamed Borabadi,
Volume 16, Issue 10 (1-2014)
Abstract

Background: Giardiasis is the most common infectious diseases of medical parasitology and public health in our country and in many countries is important. Accourding the importance of treating the disease, particularly parasite resistance to drugs. Thus, the aim of present study was investigated the effect of gold nanoparticles on Giardia lamblia cyst stage of the in vitro.

Materials and Methods: In this experimental study, Giardia cysts from contaminated fresh feces were collected and concentrated with use 0.85 M sucrose methods for isolation of cysts. Samples after counting with Noubar slide were stored at 4°C. The gold nanoparticles at concentrations of 0.05, 0.1, 0.3 mg/ml prepared and verified, the particle size was determined. The effect of different concentrations of the nanoparticles at 5, 15, 30, 60 and 180 minutes was evaluated and compared to control groups (metronidazole). Data from the study were recorded and analyzed with T-test and Chi-square by used SPSS software.

Results: The results of the cytotoxic effect of nanoparticles on the different concentration and time of Giardia lamblia cysts in vitro compared with the positive control (Metronidazole) shows mean percent of effect gold nanoparticles increased with increasing concentration and exposure time, so that the concentration of 0.3 mg/ml from 62% at 5 min to 96% at 180 min increased (p<0.05). Also, the survey results show Giardia cysts with increasing exposure time , killing effect of gold nanoparticles at a concentration of 78% in 0.05 mg/ml to 96% at a concentration of 0.3 mg/ml greatest increased (p<0.05). As a result, the concentration of gold nanoparticles in comparison with Metronidazole has the most effect gold nanoparticles at a concentration of 0.3 mg/mL, almost the same effect of Metronidazole as the drug of choice in the treatment of Giardia lamblia.

Conclusion: Therefore, the results of this study, gold nanoparticles at a concentration of 0.3 mg/ml as an effective combination for killing Giardia lamblia cysts in vitro can be used. Thus, future studies on laboratory animals (In vivo) are recommended.


Azam Gholamian, Adeleh Divsalar, Mahboubeh Eslami Moghadam, Maryam Saiedifar, Ali Akbar Sabory ,
Volume 17, Issue 2 (5-2014)
Abstract

Background: Catalase is a basic antioxidant enzyme that exits in human organs, mainly in the liver. The liver as a main tissue in the body that plays a substantial role in the catabolism and detoxification of drugs is a target of toxic and carcinogenic effects of many drugs. In the present study, the side effects of an anti-cancer compound of oxali-palladium on the function and structure of liver catalase were investigated.

Materials and Methods: In this experimental study, changes in the enzyme activity were studied by conversion in substrate (hydrogen peroxide) absorption at wavelength of 240 nm, using UV-visible spectroscopy in the absence and presence of different concentrations of oxali-palladium at room temperature. Furthermore, the effect of oxali-palladium on the tertiary structure of catalase was investigated using fluorescence spectroscopy via studying the changes in the intrinsic enzyme emission in the absence and presence of different concentrations of oxali-palladiumat at both room and physiologic temperatures.

Results: Kinetics data showed that the Km value of bovine liver catalase was 26.8 mM. Moreover, in the presence of different concentrations of oxali-palladium‚ the enzyme activity showed a gradual decrease in a dose-dependent manner (p<0.001). Fluorescence data presented changes in the tertiary structure of the enzyme by quenching fluorescence emission‚ that indicated alteration in protein chromophore environment.

Conclusion: It could be concluded that inhibition of catalase enzyme by anticancer drug of oxali-palladium increases the content of reactive oxygen species. Increase in reactive oxygen species values is one of the chief mechanisms of different anticancer drugs.


Naser Mirazi, Maryam Gholami ,
Volume 19, Issue 8 (11-2016)
Abstract

Abstract

Background: Carbon tetrachloride is one of the chemical toxins, disturbing bone marrow texture and changing the serum blood proteins. In this study, the protective effect of Avicennia marina leaf extract on bone marrow texture of rats induced by carbontetrachloride is investigated.

Materials and Methods: 42 male rats were divided randomly in to 6 groups: group induced by CCl4 (carbon tetrachloride 1:1 with olive oil, 2 ml/kg single dose, i,p), sham(taking olive oil, 2ml/kg i,p single dose) and control (taking normal saline, 2ml/kg, i,p single dose ). Treated groups (1,2 and3): induced by carbon tetrachloride 1:1 with olive oil, 2ml/kg single dose and then after two hours treated by 200mg/Kg, 400mg/Kg and 800mg/kg AME /day for 96 hrs, i,p) After the examination the blood samples were collected from heart directly and WBC and blood proteins such as Albumin, total protein separation of serum and Sections sternum bone were analyzed. Data were analyzed by ANOVA and statistical significance differences were accepted at(p<0.05).

Results:  The necrotic bone marrow texture, WBC, serum Albumin and total protein of the treatment groups showed a significant increase rather than group induced by CCl4(p<0.001).

Conclusion:  The Avicennia marina leaf has active antioxidant and flavonoids compounds which probably have protective effects on bone marrow texture from toxic agents such as CCl4.


Farzaneh Jajarmi, Ahmad Jonidi Jafari, Majid Kermani, Mitra Gholami,
Volume 22, Issue 1 (4-2019)
Abstract

Background and Aim: Dust was considered by researchers as one of the most important forms of air pollution. The aim of this study was to identify the physical and chemical characteristics of dust storm sources in Tehran.
Materials and methods: This study was conducted in selected air sampling stations of Tehran, in the days of dust and ordinary from January 2016 for one year. The concentration of dust particles was determined by gravimetric. Heavy metal concentrations in samples after digestion were determined with graphite furnace atomic absorption spectrometry (AAS-GF). Mineralogy and morphology of the dust fall particles were inspected using X-ray diffraction and scanning electron microscopy and sources particles using Enrichment Factor Analysis and principal component analysis (PCA) were performed. For statistical analysis, R software was used.
Ethical Considerations: This study with research ethics code IR.IUMS.REC.1397.313 has been approved by research ethics committee at Iran University of Medical Sciences.
Findngs: The highest average particle concentration in normal days was related to the central station (122.63 µg / m3), and the lowest for the East Station (67.13 µg / m3). The highest concentrations of the elements measured in the particles are related to iron and aluminum and the lowest concentrations of chromium and nickel. Lowest amount of Enrichment Factor was obtained for iron, less than one.
Conclusion: The results of this study indicated that the concentration of dust in center was higher than other station. Natural and human resources both play a significant role in the release of metals. By conducting further studies on the source of dust in Tehran and using the results, effective control measures can be designed and implemented.

Khadijeh Ahrari, Mandana Gholami, Maryam Chamani, Hossein Abednatanzi,
Volume 22, Issue 6 (February & March 2020)
Abstract

Background and Aim: Pregnancy and exercise training are associated with changes in the cardiovascular anatomy and physiology. There is a few studies on this issue in Iran. In this regard, the aim of this study is to assess the effect of a combined exercise training program on blood pressure and heart rate variability of pregnant women.
Methods & Materials: This randomized clinical trial was conducted in Shahid Akbarabadi Hospital in Tehran, Iran in 2019. Participants were 10 healthy pregnant women with a gestational age of 24-26 weeks in the interventional group and 10 healthy pregnant women in the control group. The interventional group received 8 weeks of combined exercise training at moderate intensity. The blood pressure measurement, electrocardiogram and aerobic and resistant exercise tests of samples were performed before and after training. AST3000 Avicenna software was used to analyze the heart rate variability parameters, and for statistical analysis, paired and independent t-tests, Mann Whitney U, and Wilcoxon tests were used. 
Ethical Considerations: This study with registered clinical trial code IRCT20190227042856N1 was approved by the Research Ethics Committee of Islamic Azad University of Science and Research Branch in Tehran, Iran (code: IR.IAU.SRB.REC.1397.101).
Results: The mean systolic and diastolic blood pressure levels were lower in the interventional group by the 34th week of pregnancy compared to the control group (P<0.05). The mean of time-domain parameters in the interventional group were higher by the 34th week of pregnancy compared to the control group (P<0.05). 
Conclusion: Combined exercise training can improve autonomic and parasympathetic nervous systems in pregnant women. 

Mehrdad Nasrollahzadeh Sabet, Mohammad Khanalipour, Milad Gholami, Abdolazim Sarli, Arefeh Rahimi Khorrami, Emran Esmaeilzadeh,
Volume 23, Issue 5 (December & January - Special Issue on COVID-19 2020)
Abstract

Background and Aim: The new Coronavirus Disease 2019 (COVID-19) outbreak initiated from China in late December 2019, has posed a great global health threat. Since patients with high blood pressure, diabetes, and cardiovascular diseases are at high risk of COVID-19, this study aims to investigate the prevalence, severity, clinical manifestations, and mortality rate in COVID-19 patients with underlying diseases compared to those without underlying diseases.
Methods & Materials: This study was performed on 1408 patients with COVID-19 admitted to Golestan, Hajar, Khanevadeh and Besat hospitals in Tehran, Iran. Required data including disease prevalence, severity, clinical manifestations and mortality rate in patients with and without underlying diseases were collected and then analyzed using statistical tests in SPSS software, considering a significance level of P<0.05.
Ethical Considerations: This study was approved by the AJA University of Medical Sciences (Code: IR.AJAUMS.REC.1399.091). Ethical principles have been observed in accordance with the guidelines of the National Ethics Committee and the COPE regulations.
Results: Patients were 912 men (64.8%) and 496 women (35.2%) aged 18-98 years (Mean age= 57.8 years). Results reported that 27% of patients were intubated and 21.9% were died. Blood oxygen level in 53.7% of patients was less than 93 mg/dL; 36.1% had a history of hypertension, 24.1% had a history of diabetes, and 21.7% had a history of cardiovascular disease.
Conclusion: The severity, clinical manifestations, and mortality rate of COVID-19 patients with cardiovascular disease, diabetes and hypertension are significantly different compared to those without underlying diseases.
Dr Majid Gholami-Ahangaran, Dr Maryam Karimi-Dehkordi,
Volume 26, Issue 1 (April & May 2023)
Abstract

Introduction: Coronaviruses are mainly the cause of respiratory disease in humans, and among the known species, the coronaviruses that cause SARS, MERS, and Covid 19 cause severe respiratory disease. So far, no specific treatment has been found for these diseases. Considering the beneficial effects of medicinal plants as antioxidant and anti-inflammatory compounds, the use of herbal compounds can be effective in mild infection of coronaviruses.
Methods: PubMed database was used to search for articles containing the terms coronavirus, SARS, MERS, as well as human and herbal medicine. The inclusion criteria were all full articles with the mentioned keywords and the exclusion criteria were summary articles and articles presented in conferences. A total of 36 articles on human coronaviruses were found. Most of the studies were about SARS (SARS-CoV) with 26 articles (72.22%). Two articles (5.55%) were found about Covid-19 (SARS-CoV-2) and only one article (2.77%) about MERS (MERS-CoV). It should be noted that one study included SARS-CoV and MERS-CoV and six studies (16.66%) also investigated SARS, MERS and Covid-19 at the same time. Ethical principles have been respected in writing the article, according to the instructions of the National Ethics Committee and COPE regulations.
Results: Some medicinal plants have been identified with effective antiviral activity against SARS, MERS, and Covid-19 coronaviruses, including green tea, cinnamon, licorice, cure, sage, chives, rhubarb, nettle, and blackberry. Considering that these medicinal plants have already been used with different therapeutic effects in the human medicinal pharmacopoeia, it is recommended to conduct clinical trials on humans in order to achieve an effective dose against common human coronaviruses.
Conclusions: Although some medicinal plants have been recommended for use in the treatment of coronavirus respiratory syndrome in humans, the effects of these plants on other biological factors have not been studied, until now. It is necessary to evaluate their side effects simoultaneous with clinical trials and confirming the effectiveness of these compounds.
Negar Rezakhani, , Dr Milad Gholami,
Volume 26, Issue 1 (April & May 2023)
Abstract

Introduction: Hereditary spastic paraplegia is a rare disease with different inheritance patterns. The prevalence of this disease is about 1.8 per 100 thousand people. Most of the affected patients are the result of consanguineous marriages. Weakness and muscle spasm is the main manifestation of this disease. The purpose of this study was to investigate the mutation analysis of a person with hereditary spastic paraplegia by the whole exome sequencing method.
Methods: Peripheral blood samples were obtained from a person suffering from gait disorder and lower limb spasm with autosomal recessive inheritance pattern. DNA extraction and whole exome sequencing was performed. After analyzing the data related to the whole exome sequence, the disease-causing mutation in the affected person was confirm using Sanger sequencing method. Also, parents were investigated to separate mutation and carrier status. This study was approved by Arak University of Medical Sciences (code IR.ARAKMU.REC.1401.039). Ethical principles have been followed in accordance with the guidelines of the National Ethics Committee and COPE regulations.
Results: In the present study, a homozygous pathogenic mutation (NM_030954.4): c.304T>C (p.Cys102Arg) in the RNF170 gene was identified in the patient, therefor, hereditary spastic paraplegia type 85 was confirmed in him. Also, the parents of the affected person were heterozygous for the mutation.
Conclusions: Homozygous mutation in RNF170 gene was detected using whole exome sequencing method. A mutation in this gene causes hereditary spastic paraplegia. Considering the consanguineous marriage of carrier parents, this finding can be used for preventive measures in future children.
Masoumeh Gholami, Mr Hossein Bakhtiari-Dovvombaygi, Miss Mahla Rezaei–shandiz, Dr Saeed Pazhoohan, Mehdi Sadegh,
Volume 26, Issue 3 (August & September 2023)
Abstract

Introduction: Maternal folate supplementation during pregnancy is associated with reduced risk of several fetal neurodevelopmental disorders. However, it is not well known that excess folate intake from diet and supplements can impair neurodevelopment and behavior in offspring. Therefore, the aim of this study is to investigate the effect of chronic and high doses of folic acid before and during pregnancy in female rats on learning and spatial and avoidance memory in male and female offspring.
Methods: 24 female Wistar rats received doses of 0.5, 1, and 2 mg folic acid by intraperitoneal injection two weeks before and during pregnancy. The control group received normal saline. Male and female offspring were divided into 8 groups. Learning behavior and spatial memory were measured by Morris blue maze test, avoidance memory by shuttle box test. The results showed that taking a dose of 2 mg folic acid before and during pregnancy causes spatial learning deficits in male offspring.
Results: While spatial memory is unchanged compared to the control. This dose of folic acid also causes a disturbance in avoidance memory in both male and female offspring.
Conclusions: Our results suggest that high doses of folic acid supplements during early life (fetal) have the potential to impair neurological functions such as memory. Although the severity of this disorder can depend on the gender of the child.

Ms Parnian Hekmatpou, Maryam Maryam Ghanbari, Milad Gholami,
Volume 27, Issue 1 (3-2024)
Abstract

Introduction: Gestational diabetes is defined as hyperglycemia with onset or first diagnosis during pregnancy, with a lower frequency than general diabetes. Overweight and obesity, old age at the time of pregnancy, previous history of gestational diabetes, family history of type 2 diabetes, and race are risk factors for gestational diabetes. Recently, the relationship between two polymorphisms (rs9939609 and rs1421085) of Fat mass and obesity-associated (FTO) gene and the risk of gestational diabetes has been investigated in some studies with conflicting results. Therefore, our aim of the present study was to investigate the association study of rs1421085 and rs9939609 of the FTO gene on gestational diabetes.
Methods: In this case-control study, five cc of peripheral blood was collected from 100 cases with gestational diabetes and 116 control pregnant women from Taleghani Hospital in Arak, and then DNA was extracted. After designing the specific primers, the genotypes were determined by the Tetra ARMS-PCR method. Demographic information was compared with genotypes between the two groups were compared using SNPSTAT software.
Results: A significant correlation was observed between obesity, BMI before and during pregnancy, HbA1c, FBS, cholesterol, and triglyceride levels among mothers with gestational diabetes compared to healthy pregnant mothers P = 0.0001. According to data analysis, there was no significant association between rs1421085 and rs9939609 of the FTO gene with gestational diabetes.
Conclusions: Considering the conflicting results between the association of FTO gene polymorphisms with gestational diabetes, to better identify and understand the pathogenesis of the disease, more studies with a higher number of samples and more racial groups are needed. In the future, identifying the profile and locations of genetic susceptibility to gestational diabetes can be used in the patient's management.
Parto Hekmatpou, Parnian Hekmatpou, Farideh Jalali Mashayekhi, Sahar Bayat, Milad Gholami,
Volume 28, Issue 1 (3-2025)
Abstract

Introduction: Oculocutaneous Albinism is a hereditary disease with an autosomal recessive pattern. The incidence of this disease is about 1 in every 17 thousand births. Most of the affected people in Iran are the result of consanguineous marriages. White hair, fair skin, and reduction of iris pigments are the main manifestations of this disease. Also, exposure to sunlight increases the susceptibility of these patients to skin cancer. This study aimed to investigate the genetic cause of a person with Oculocutaneous Albinism by whole exome sequencing.
Methods: A 6cc peripheral blood sample was obtained from a child with oculocutaneous Albinism with an autosomal recessive inheritance pattern. DNA extraction and whole exome sequencing were performed. After analyzing the exome sequencing data, the pathogenic mutation was identified. Then, the Sanger sequencing method was used to confirm and segregate.
Results: The affected case showed homozygous pathogenic mutation (NM_000372.5): c.286dupA p.(Met96AsnfsTer73) in exon 1 of the TYR gene. Oculocutaneous albinism IA was determined according to the mutated gene. Also, the parents of the affected person were heterozygous for the mutation.
Conclusions: The mutation causing oculocutaneous albinism was identified in the affected person using the high-efficiency whole exome sequencing method and then confirming the mutation through Sanger sequencing. Considering the parents' consanguineous marriage of the parents, this finding can be used for preventive measures in the future.

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