A. Arabzadeh, G. Akhavan Akbari, I. Feizi, A. Sharghi, Mahboubeh Taghipour Moazen, B. Shahbazzadegan
Background & objectives: Using medications that decrease postoperative pain and opioid consumption is a widely recommended approach. The aim of this study was to evaluate the efficacy of intravenous Ibuprofen and its complication in controlling pain after abdominal surgery. Methods: This study was a randomized, double-blind, interventional clinical trial. Sixty patients aged 20 to 60 years were candidates for abdominal surgery (inguinal hernioplasty and appendectomy). Patients were divided into two equal size groups (n=30) using a random block design method. The First group received (400 mg IV) ibuprofen every 6 hours for 24 hours as well as (15 microgram/ml bolus) fentanyl pump with PCA. Second group only received (15 microgram/ml blous) fentanyl pump with PCA. Results: Demographic characteristics and duration of surgery, ASA class, type of anesthesia and type of surgery were similar in the two groups. Pain severity in 24 postoperative hours was significantly lower in the ibuprofen group compared with the control group. Nausea and vomiting frequency in 24 postoperative hours was significantly lower in the ibuprofen group compared with the control group. Patients belonging to ibuprofen group were significantly more satisfied with their analgesic method. Conclusion: Results showed that using 400 mg intravenous ibuprofen every 6 hours mitigates postoperative pain, reduces fentanyl consumption and is highly tolerated by patients.
{"title":"Evaluation the Efficacy of Intravenous Ibuprofen and Its Complications in Acute Pain Management after Abdominal Surgery","authors":"A. Arabzadeh, G. Akhavan Akbari, I. Feizi, A. Sharghi, Mahboubeh Taghipour Moazen, B. Shahbazzadegan","doi":"10.52547/jarums.21.1.7","DOIUrl":"https://doi.org/10.52547/jarums.21.1.7","url":null,"abstract":"Background & objectives: Using medications that decrease postoperative pain and opioid consumption is a widely recommended approach. The aim of this study was to evaluate the efficacy of intravenous Ibuprofen and its complication in controlling pain after abdominal surgery. Methods: This study was a randomized, double-blind, interventional clinical trial. Sixty patients aged 20 to 60 years were candidates for abdominal surgery (inguinal hernioplasty and appendectomy). Patients were divided into two equal size groups (n=30) using a random block design method. The First group received (400 mg IV) ibuprofen every 6 hours for 24 hours as well as (15 microgram/ml bolus) fentanyl pump with PCA. Second group only received (15 microgram/ml blous) fentanyl pump with PCA. Results: Demographic characteristics and duration of surgery, ASA class, type of anesthesia and type of surgery were similar in the two groups. Pain severity in 24 postoperative hours was significantly lower in the ibuprofen group compared with the control group. Nausea and vomiting frequency in 24 postoperative hours was significantly lower in the ibuprofen group compared with the control group. Patients belonging to ibuprofen group were significantly more satisfied with their analgesic method. Conclusion: Results showed that using 400 mg intravenous ibuprofen every 6 hours mitigates postoperative pain, reduces fentanyl consumption and is highly tolerated by patients.","PeriodicalId":30758,"journal":{"name":"Journal of Ardabil University of Medical Sciences","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2021-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"46240750","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"The Relationship between Gastric Carcinogenesis Susceptibility and Some SNPs in MicroRNA Genes in General Population of Ardabil Province","authors":"Homa Akhavan Aghghaleh, N. Ranji, H. Habibollahi","doi":"10.52547/jarums.21.1.76","DOIUrl":"https://doi.org/10.52547/jarums.21.1.76","url":null,"abstract":"","PeriodicalId":30758,"journal":{"name":"Journal of Ardabil University of Medical Sciences","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2021-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"47732737","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2021-03-01DOI: 10.52547/jarums.21.1.123
A. Samadi, Z. Azimi, Atabak Alafasgari
Pulmonary alveolar microlithiasis is a rare autosomal recessive disease characterized by the formation of calcium phosphate deposition in the alveoli. Although the disease most often occurs in children, most patients with the disease are diagnosed in adulthood due to the slow progression of the disease inside the lungs. In childhood, it often causes no symptoms, and changes in the lung parenchyma are usually detected by chance. Symptoms usually appear in the third or fourth decade of life. Diagnosis is made with a combination of positive chest radiography and tissue examination. Genetic testing makes it possible to identify other unidentified patients in the patient's family. In the present study, a patient with pulmonary alveolar microlithiasis was diagnosed using imaging and other disease findings, including clinical manifestations as well as history is taken from the patient.
{"title":"A Case Report of Pulmonary Alveolar Microlithiasis","authors":"A. Samadi, Z. Azimi, Atabak Alafasgari","doi":"10.52547/jarums.21.1.123","DOIUrl":"https://doi.org/10.52547/jarums.21.1.123","url":null,"abstract":"Pulmonary alveolar microlithiasis is a rare autosomal recessive disease characterized by the formation of calcium phosphate deposition in the alveoli. Although the disease most often occurs in children, most patients with the disease are diagnosed in adulthood due to the slow progression of the disease inside the lungs. In childhood, it often causes no symptoms, and changes in the lung parenchyma are usually detected by chance. Symptoms usually appear in the third or fourth decade of life. Diagnosis is made with a combination of positive chest radiography and tissue examination. Genetic testing makes it possible to identify other unidentified patients in the patient's family. In the present study, a patient with pulmonary alveolar microlithiasis was diagnosed using imaging and other disease findings, including clinical manifestations as well as history is taken from the patient.","PeriodicalId":30758,"journal":{"name":"Journal of Ardabil University of Medical Sciences","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2021-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"46809402","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2021-03-01DOI: 10.52547/jarums.21.1.110
Rohollah Taheri Gandomani, B. Mirzaei, Arssalan Damirchi
Background & objectives: Age-related cardiovascular dysfunction is often accompanied by impaired mitochondrial biogenesis and function. Exercise training can improve mitochondrial function and content in muscle to meet the energy demands of the cells. The purpose of the present study was to investigate the effect of moderate-intensity (MRT) and high-intensity (HRT) resistance training on the expression of PGC-1α, TFAM and AMPK of cardiomyocytes in elderly rats. Methods: In this experimental study, 30 elderly male rats (23 months) were divided into 3 groups: control (C), MRT and HRT. Training groups exercised resistance training for eight weeks (5 days a week). The resistance training protocol consisted of climbing a 110-centimeter -long ladder, with a weight attached to a tail sleeve. In the MRT group, the training protocol with 60% MVCC, 14-20 times climbing the ladder; In the HRT group with 80% MVCC, 9-10 times climbing the ladder was performed. Data were tested using ANOVA at a significance level of p <0.05. Results: the expression of PGC-1α, TFAM and AMPK was significantly increased in MRT and HRT groups compared to control group ( p =0.000). There was no significant difference between MRT and HRT groups on the expression of PGC-1α, TFAM and AMPK ( p =0.574). Conclusions : Eight weeks of MRT and HRT exercise improved mitochondrial biogenesis by increasing the expression of AMPK, PGC-1α and TFAM Cardiomyocytes in Elderly Rats. Both types of exercise training may be considered an effective intervention to improve mitochondrial function.
{"title":"The Effect of Moderate and High Intensity Resistance Training on the Expression of PGC-1α, TFAM and AMPK of Cardiomyocytes in Elderly Rats","authors":"Rohollah Taheri Gandomani, B. Mirzaei, Arssalan Damirchi","doi":"10.52547/jarums.21.1.110","DOIUrl":"https://doi.org/10.52547/jarums.21.1.110","url":null,"abstract":"Background & objectives: Age-related cardiovascular dysfunction is often accompanied by impaired mitochondrial biogenesis and function. Exercise training can improve mitochondrial function and content in muscle to meet the energy demands of the cells. The purpose of the present study was to investigate the effect of moderate-intensity (MRT) and high-intensity (HRT) resistance training on the expression of PGC-1α, TFAM and AMPK of cardiomyocytes in elderly rats. Methods: In this experimental study, 30 elderly male rats (23 months) were divided into 3 groups: control (C), MRT and HRT. Training groups exercised resistance training for eight weeks (5 days a week). The resistance training protocol consisted of climbing a 110-centimeter -long ladder, with a weight attached to a tail sleeve. In the MRT group, the training protocol with 60% MVCC, 14-20 times climbing the ladder; In the HRT group with 80% MVCC, 9-10 times climbing the ladder was performed. Data were tested using ANOVA at a significance level of p <0.05. Results: the expression of PGC-1α, TFAM and AMPK was significantly increased in MRT and HRT groups compared to control group ( p =0.000). There was no significant difference between MRT and HRT groups on the expression of PGC-1α, TFAM and AMPK ( p =0.574). Conclusions : Eight weeks of MRT and HRT exercise improved mitochondrial biogenesis by increasing the expression of AMPK, PGC-1α and TFAM Cardiomyocytes in Elderly Rats. Both types of exercise training may be considered an effective intervention to improve mitochondrial function.","PeriodicalId":30758,"journal":{"name":"Journal of Ardabil University of Medical Sciences","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2021-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"43110516","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Sara Sabaei, A. Sarshin, A. Rahimi, Fouad Feizollahi
Background & objectives: Caffeine can affect many physiological functions of the body. The aim of this study was to investigate the response of aerobic function, blood pressure and some immune system factors of trained men to acute caffeine consumption in dehydrated condition and warm and humid environment. Methods: Thirty male athletes with a mean age of 26.6±3.9 years in dehydrated conditions voluntarily participated in this study, which was performed in a double-blind manner. Subjects were divided into three groups: caffeine consumption group (n=10), placebo group (n=10) and control group (n=10). The Caffeine group consumed 6 mg/kg body weight of caffeine. Sixty minutes later, the subjects performed an increasingly exhausting exercise. Blood samples collecting and blood pressure measuring took place before, immediately after and 24 hours after exercise. Analysis of variance with repeated measures (group * time) and one-way analysis of variance were used for statistical calculations. Results: The duration of the exhaustion test in the caffeine consumption group was significantly longer than the control ( p ≤0.01) and placebo ( p ≤0.05) groups. In the blood sampling immediately after exercise, the level of leukocytes, neutrophils and lymphocytes in the exercise groups were significantly higher than the control group ( p ≤0.001). Also, the caffeine group experienced a lower increase in leukocytes and neutrophils compared to the placebo group ( p ≤0.001). Blood pressure values in the exercise groups were significantly higher than the control group ( p ≤0.001). Also, the caffeine group experienced a greater increase in systolic blood pressure at baseline and immediately after exercise compared to the placebo group ( p ≤0.001). Conclusion: In general, exhausting exercise in a warm environment and dehydrated condition increases the number of immune system cells and blood pressure. In addition to improving aerobic function, caffeine seems to prevent further increases in the number of immune system cells, while increasing blood pressure in the normal range in warm and humid environment.
{"title":"The Effect of Acute Caffeine Consumption in a Dehydration and Hot and Humid conditions on Aerobic Function, Blood Pressure and Some Factors of the Immune System of Active Men","authors":"Sara Sabaei, A. Sarshin, A. Rahimi, Fouad Feizollahi","doi":"10.52547/jarums.21.1.51","DOIUrl":"https://doi.org/10.52547/jarums.21.1.51","url":null,"abstract":"Background & objectives: Caffeine can affect many physiological functions of the body. The aim of this study was to investigate the response of aerobic function, blood pressure and some immune system factors of trained men to acute caffeine consumption in dehydrated condition and warm and humid environment. Methods: Thirty male athletes with a mean age of 26.6±3.9 years in dehydrated conditions voluntarily participated in this study, which was performed in a double-blind manner. Subjects were divided into three groups: caffeine consumption group (n=10), placebo group (n=10) and control group (n=10). The Caffeine group consumed 6 mg/kg body weight of caffeine. Sixty minutes later, the subjects performed an increasingly exhausting exercise. Blood samples collecting and blood pressure measuring took place before, immediately after and 24 hours after exercise. Analysis of variance with repeated measures (group * time) and one-way analysis of variance were used for statistical calculations. Results: The duration of the exhaustion test in the caffeine consumption group was significantly longer than the control ( p ≤0.01) and placebo ( p ≤0.05) groups. In the blood sampling immediately after exercise, the level of leukocytes, neutrophils and lymphocytes in the exercise groups were significantly higher than the control group ( p ≤0.001). Also, the caffeine group experienced a lower increase in leukocytes and neutrophils compared to the placebo group ( p ≤0.001). Blood pressure values in the exercise groups were significantly higher than the control group ( p ≤0.001). Also, the caffeine group experienced a greater increase in systolic blood pressure at baseline and immediately after exercise compared to the placebo group ( p ≤0.001). Conclusion: In general, exhausting exercise in a warm environment and dehydrated condition increases the number of immune system cells and blood pressure. In addition to improving aerobic function, caffeine seems to prevent further increases in the number of immune system cells, while increasing blood pressure in the normal range in warm and humid environment.","PeriodicalId":30758,"journal":{"name":"Journal of Ardabil University of Medical Sciences","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2021-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"49047153","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Background & objectives : The aim of this study was to evaluate the effects of preventive administration of ketamine, fentanyl and paracetamol on pain intensity and hemodynamic parameters after deep vitrectomy. Methods: In this clinical trial, 80 candidates of deep vitrectomy surgery were randomly assigned into 4 groups (1-4) and received 0.5 mg / kg ketamine, 2 μg / kg fentanyl, 10 mg/kg of paracetamol and equivolume of normal saline respectively intravenous infusion during the last 15 minutes of surgery. Pain intensity and hemodynamic parameters were recorded and analyzed. Results: Pain intensity was significantly higher in placebo group during the first 4 hours after operation ( p <0.01), but no significant differences were observed between the study groups at 8 and 24 hours after operation in this regard. There were no significant differences between the three intervention groups in terms of pain intensity during the study. Also there were no significant differences between the 4 study groups regarding to hemodynamic parameters. Conclusion: The use of each of the three intervention drugs significantly reduced the pain intensity compared to the control group without any hemodynamic derangement.
{"title":"Effects of Ketamine, Fentanyl and Paracetamol on Pain Intensity and Hemodynamic Parameters after Deep Vitrectomy","authors":"H. Shetabi, Dariush Moradi farsani, M. Razani","doi":"10.52547/jarums.21.1.90","DOIUrl":"https://doi.org/10.52547/jarums.21.1.90","url":null,"abstract":"Background & objectives : The aim of this study was to evaluate the effects of preventive administration of ketamine, fentanyl and paracetamol on pain intensity and hemodynamic parameters after deep vitrectomy. Methods: In this clinical trial, 80 candidates of deep vitrectomy surgery were randomly assigned into 4 groups (1-4) and received 0.5 mg / kg ketamine, 2 μg / kg fentanyl, 10 mg/kg of paracetamol and equivolume of normal saline respectively intravenous infusion during the last 15 minutes of surgery. Pain intensity and hemodynamic parameters were recorded and analyzed. Results: Pain intensity was significantly higher in placebo group during the first 4 hours after operation ( p <0.01), but no significant differences were observed between the study groups at 8 and 24 hours after operation in this regard. There were no significant differences between the three intervention groups in terms of pain intensity during the study. Also there were no significant differences between the 4 study groups regarding to hemodynamic parameters. Conclusion: The use of each of the three intervention drugs significantly reduced the pain intensity compared to the control group without any hemodynamic derangement.","PeriodicalId":30758,"journal":{"name":"Journal of Ardabil University of Medical Sciences","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2021-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"44261509","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"بررسی اثر عصاره گیاه کانابیس (شاهدانه) بر سلولهای عصبی SH-SY5Y","authors":"فرشید پارسا, ابراهیم حسینی, داوود مهربانی, سارا هاشمی","doi":"10.52547/JARUMS.20.2.232","DOIUrl":"https://doi.org/10.52547/JARUMS.20.2.232","url":null,"abstract":"","PeriodicalId":30758,"journal":{"name":"Journal of Ardabil University of Medical Sciences","volume":"20 1","pages":"232-241"},"PeriodicalIF":0.0,"publicationDate":"2021-01-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"70687542","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"عوامل محافظت کننده میتوکندریایی/ لیزوزومی و آنتی اکسیدانی سبب کاهش سمیت ناشی از تولوئن در لنفوسیتهای انسانی میشوند","authors":"عنایت اله صیدی, جلال پوراحمد, بهناز شجاع طلا تپه, احمد سلیمی","doi":"10.52547/JARUMS.20.2.242","DOIUrl":"https://doi.org/10.52547/JARUMS.20.2.242","url":null,"abstract":"","PeriodicalId":30758,"journal":{"name":"Journal of Ardabil University of Medical Sciences","volume":"20 1","pages":"242-253"},"PeriodicalIF":0.0,"publicationDate":"2021-01-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"70687247","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2021-01-10DOI: 10.52547/JARUMS.20.2.188
سولماز بابایی
{"title":"The Effect of 12 Weeks of HIIT Training and Curcumin Consumption on Leptin and Galanin Levels in Obese Women","authors":"سولماز بابایی","doi":"10.52547/JARUMS.20.2.188","DOIUrl":"https://doi.org/10.52547/JARUMS.20.2.188","url":null,"abstract":"","PeriodicalId":30758,"journal":{"name":"Journal of Ardabil University of Medical Sciences","volume":"20 1","pages":"188-199"},"PeriodicalIF":0.0,"publicationDate":"2021-01-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"46018962","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Background & objectives: Mucopolysaccharidosis IVA (Morquio syndrome type A) is a lysosomal storage disorder caused by a mutation in the GALNS gene located on chromosome 16q24.3 and is inherited in an autosomal recessive manner. To date, more than 300 different mutations associated with MPS IVA, have been reported. Mutational heterogeneity can lead to difficulties in interpretation of molecular testing results, as novel mutations/variants of unknown significance may be detected relatively frequently. The purpose of this study is to analyze the GALNS mutations in Iranian MPS IVA patients. Methods: Mutation screening of the GALNS gene was performed using direct sequence analysis on DNA samples from 8 unrelated Iranian MPS IVA patients. Results: We have identified three novels and four previously reported mutations in 8 Iranian patients. We identified three novel missense mutations including: c.680T>C (p.F227S) in exon 7, c.G949C (p.G317R) and c.956G>C (p.R319T) in exon 9 in three different Iranian MPS IVA patients. Bioinformatics analysis predicted the novel mutations as being diseasecausing. Conclusion: Our findings indicate the molecular heterogeneity of GALNS gene in Iranian patients. We also managed to find three new mutations of MPS IVA in Iranian patients, which are helpful in diagnosis, genetic counseling and prenatal diagnosis in affected families.
{"title":"Molecular Analysis of GALNS Gene in eight Iranian Patients with Mucopolysaccharidosis IVA","authors":"Seyed Hosseiali Saberi, Behnam Kamalidehghan, Shahla Farshidi, Seyed Massoud Houshmand, Roshanak Jazayeri, T. Biotechnology","doi":"10.52547/JARUMS.20.2.222","DOIUrl":"https://doi.org/10.52547/JARUMS.20.2.222","url":null,"abstract":"Background & objectives: Mucopolysaccharidosis IVA (Morquio syndrome type A) is a lysosomal storage disorder caused by a mutation in the GALNS gene located on chromosome 16q24.3 and is inherited in an autosomal recessive manner. To date, more than 300 different mutations associated with MPS IVA, have been reported. Mutational heterogeneity can lead to difficulties in interpretation of molecular testing results, as novel mutations/variants of unknown significance may be detected relatively frequently. The purpose of this study is to analyze the GALNS mutations in Iranian MPS IVA patients. Methods: Mutation screening of the GALNS gene was performed using direct sequence analysis on DNA samples from 8 unrelated Iranian MPS IVA patients. Results: We have identified three novels and four previously reported mutations in 8 Iranian patients. We identified three novel missense mutations including: c.680T>C (p.F227S) in exon 7, c.G949C (p.G317R) and c.956G>C (p.R319T) in exon 9 in three different Iranian MPS IVA patients. Bioinformatics analysis predicted the novel mutations as being diseasecausing. Conclusion: Our findings indicate the molecular heterogeneity of GALNS gene in Iranian patients. We also managed to find three new mutations of MPS IVA in Iranian patients, which are helpful in diagnosis, genetic counseling and prenatal diagnosis in affected families.","PeriodicalId":30758,"journal":{"name":"Journal of Ardabil University of Medical Sciences","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2021-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"47929365","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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