فهرست مطالب

Public Health - Volume:50 Issue: 9, Sep 2021
  • Volume:50 Issue: 9, Sep 2021
  • تاریخ انتشار: 1400/06/20
  • تعداد عناوین: 31
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  • Dariush D. Farhud, Moslem Bahadori, Marjan Zarif Yeganeh Page 0
  • Ladan Rokni Pages 1743-1756
    Background

    The COVID-19 pandemic-induced changes have threatened the psychological wellbeing of travelling. This review aims to appraise a range of perceived psychological variables used to realize how the pandemic has influenced tourist behavior.

    Methods

    A systematic review was conducted to identify the mechanisms behind tourists' behavioral change during the pandemic. The papers were extracted from four databases: PubMed, SCOPUS, Web of Science, and EMBASE, published since 2020 to 2021. The results are summarized narratively due to the heterogeneity of the studies.

    Results

    A total of 369 citations were identified through an electronic search of databases, of which nine publications met the inclusion criteria. The extracted information determines the significant factors contributing to the psychological changes of travelling behavior during the pandemic.

    Conclusion

    The tourists' perception of COVID-19 has influenced the intentions and motivation in the tourism sector and has changed travel behavior. The mental health outcome of travelling has been replaced by globally recognized fear and anxiety. Yet, there are several motivators to travel during the pandemic. At the same time, the socio-demographic characteristics contribute to all the identified changes.

  • Yuan Jiang, Jing Xu, Huijung Lai, Hui Lin Pages 1757-1765
    Background

    This study reports a systematic review of association between meteorological parameters and hand, foot and mouth disease (HFMD) in mainland China.

    Methods

    Using predefined study eligibility criteria, three electronic databases (PubMed, Web of Science, and Embase) were searched for relevant articles. Using a combination of search terms, including “Hand foot and mouth disease,” “HFMD,” “Meteorological,” “Climate,” and “China,” After removal of duplicates, our initial search generated 2435 studies published from 1990 to December 31, 2019. From this cohort 51 full-text articles were reviewed for eligibility assessment. The meta-analysis was devised in accordance with the published guidelines of the Cochrane Collaboration and Preferred Reporting Items for Systematic Reviews and Meta-analysis (PRISMA). Effect sizes, heterogeneity estimates and publication bias were computed using R software and Review Manager Software.

    Results

    The meta-analysis of 18 eligible studies showed that the meteorological parameters played an important role in the prevalence of HFMD. Lower air pressure may be the main risk factor for the incidence of HFMD in Chinese mainland, and three meteorological parameters (mean temperature, rainfall and relative humidity) have a significant association with the incidence of HFMD in subtropical regions.

    Conclusion

    Lower air pressure might be the main risk factor for the incidence of HFMD in Chinese mainland. The influence of meteorological parameters on the prevalence of HFMD is mainly through changing virus viability in aerosols, which may be different in different climate regions. In an environment with low air pressure, wearing a mask that filters the aerosol outdoors may help prevent HFMD infection.

    Keywords: Hand, foot, mouth disease, Meteorological parameters, Meta-analysis
  • Byung Ro Seo, Kyoung Lee Kim Pages 1766-1772

    The significant impacts of recent infectious diseases (MERS, COVID-19) demand fundamental changes and alternatives in different markets, such as tourism and the medical tourism industry. In this study, we aimed to have a historical investigation on how infectious diseases have affected the tourism industry in Korea, to reach practical implications for managing the medical tourism sector. The impact of global infectious diseases, including MERS, and COVID-19, on the tourism industry was studied in South Korea. First, the available information was collected to clarify how these two outbreaks have impacted the tourism market in South Korea, and then the government's countermeasures were studied. Investigating among the policies resulted in practical implications for the post-pandemic revitalizing plan for the medical tourism market. The infectious outbreak caused a significant decrease in the number of inbound tourists to South Korea, moreover, the crisis response system of the government has been useful so far. Hence, several practical implications can be achieved for the medical tourism market. A framework is suggested which involves 5 stages of strategies to revitalize medical tourism market. It presents remedies to revitalize the medical tourism industry and to enter the global market again. Korea's quarantine model, which succeeded in preventing COVID-19, can be a preemptive response to another pandemic in the future. The medical tourism industry policy based on Korea's quarantine model will contribute to the revitalization of the international medical tourism industry after COVID-19.

    Keywords: COVID-19, Global infection, Tourism, Medical tourism, Medical policy
  • Yongcheng Su, Xiaogang Zheng, Zhong Ouyang Pages 1773-1782
    Background

    Curative operation is the practical and primary therapy for masses of breast cancers. In contrast, the correlation between the time interval from breast cancer diagnosis to curative surgery and survival is still uncertain.

    Methods

    An electronic literature search was conducted on PubMed/Medline and EMBASE (between Jan 2000 and Jan 2020). Primary endpoints were overall survival (OS) or Disease-Free Survival (DFS). The HR with 95% confidence intervals were calculated using a random-effects or fixed-effects model.

    Results

    The combined HR for OS was 1. 10 (95% CI 1. 08-1. 11; P=0. 000) by fixed-effects model, no statistically significant heterogeneity was found (P=1. 000; I2=0%), and this difference was statistically significant (Z=11. 99; P=0. 000).

    Conclusion

     This meta-analysis showed a significant adverse association between more prolonged time to surgery (TTS) and lower overall survival in patients with breast cancer. It is reasonable to minimize that interval between diagnosis and curative surgery.

    Keywords: Breast cancer, Time to surgery, Survival, Meta-analysis
  • Peyman Motaghi, Parto Nasri Pages 1783-1788

    The global campaign of osteoporosis has been organized by the International Osteoporosis Foundation (IOF) and them introducing World Osteoporosis Day (WOD) in 1997. The day is celebrated on October 20th each year and aimed to improve the awareness of the population about disease prevention. We present some aspects of bone health and the prevention of osteoporosis related to the use of vitamins. The presenting mini-review covers a variety of sources including PubMed, Embase, Scopus, and directory of open access journals (DOAJ) from 10 years ago (Oct 2009 to Oct 2019) for recent developments in the prevention of bone loss. The search was performed by using combinations of the following keywords and or their equivalents; osteoporosis, bones health, bone loss, and vitamin to find related articles about the prevention of osteoporosis by nutritional factors. The factors affecting   bone are various and could begin from fetal periods to the end of life. Some of them are not changeable including age, and genetic; however, it is possible to modify some others such as poor nutrition and vitamin deficiency. Beyond vitamin D deficiency, consumption of other vitamins also is beneficial to maintain bone health. By considering the nutritional factors especially vitamins that affect bones, it is possible to have stronger bones to enjoy life in the elderly and protect your future.

    Keywords: Osteoporosis, Bones health, Bone loss, Vitamin
  • Huiqiu Zhong, Xiaojiang Luo Pages 1789-1795
    Background

    We aimed to investigate the serum concentration of dihydropyrimidinase-like 3 (DPYSL3) in patients with gastric cancer and its clinical significance.

    Methods

    Seventy four patients with gastric cancer from Wuhan Central Hospital, Tongji Medical College, Huazhong University of Science and Technology, China from October 2018 to April 2019 were selected as the case group. Sixty patients with normal gastric mucosa or mild non-atrophic gastritis were selected as the control group. Serum DPYSL3, CA72-4 and CEA concentrations were measured in both groups.

    Results

    The serum DPYSL3 concentration in the case group was significantly higher than that in the healthy control group (22.04±9.22 vs. 8.36±4.19 μg/L, P<0.001). The serum DPYSL3 concentration in patients with advanced gastric cancer was significantly higher than that in early gastric cancer (27.09±9.12 vs. 13.04±8.22 μg/L, P<0.01); serum DPYSL3 concentration was significantly correlated with tumor size, TNM stage and differentiation (P<0.05). When the cutoff value was 20.98 μg/L, the serum DPYSL3 concentration could differentiate the gastric cancer with ROCAUC 0.882 (95% CI: 0.828-0.937) with sensitivity and specificity of 75% and 94%, respectively. Serum CA72-4 concentration could differentiate the gastric cancer from health controls with ROCAUC 0.812 (95% CI: 0.734-0.834), serum CEA concentration could differentiate gastric cancer with ROCAUC 0.612 (95% CI: 0.534 ~ 0.634). The serum concentrations of DPYSL3, CA72-4 and CEA in gastric cancer patients were increased compared to health controls.

    Conclusion

    Three serological markers have complementary diagnostic value for gastric cancer. Serum DPYSL3 is a new potential molecular marker for gastric cancer.

    Keywords: Serum, Carcinoembryonic antigen, Gastric cancer, Diagnosis, Dihydropyrimidinase-like 3 protein
  • Goksel Durmus, Tulay Ortabag, Serpil Ozdemir Pages 1796-1804
    Background

    Obesity has become widespread among adolescents throughout the world. This study aimed to determine the relationship between problematic internet use and obesity among 10-19 yr old adolescents.

    Methods

    The descriptive study was carried out in a private elementary and high school in Gaziantep Province in the Eastern Turkey in 2016-2017. Overall, 474 adolescents and 938 their parents were enrolled. Data collection form consisted of three parts. The first part included questions about sociodemographic characteristics of the adolescent and his/her parents. The second part included data on anthropometrical measurements, dietary habits and physical activity level. Third part of the data collection form included Problematic Internet Usage Scale. First, anthropometrical measurements of the adolescents were recorded. Then, the data collection forms were applied to adolescents and their parents.

    Results

    34.8% of adolescents were overweight and obese. Approximately four out of ten male adolescents and three out of ten female adolescents were overweight or obese (P<0.05). Girls had less problematic internet use behaviors (P<0.05). There were statistically significant differences between age, sex, socioeconomic status, unhealthy eating habits and problem internet usage (P<0.05).

    Conclusion

    Periodic screening should be done to determine the prevalence of obesity and problematic internet usage. Training programs on regular physical activity and healthy nutrition should be prepared and guidance services should be provided for the reduction of obesity rates and the protection of ideal weight.

    Keywords: Adolescent, Health, Obesity, Internet use
  • Hui Lü, Huaning Zhang, Ting Liu, Wei Hao, Qun Yuan Pages 1805-1815
    Background

    Vibrio cholerae is an important bacterium causing profuse watery diarrhea. Cholera had swept the whole Shandong province from 1975 to 2013.

    Methods

    From epidemiological data and pulsed-field gel electrophoresis data, we selected 86 V. cholerae isolates appearing in Shandong Province in China from 1975 to 2013 and characterized them by multilocus sequence typing (MLST)/multi-virulence locus sequence typing (MVLST), antibiogram and analysis of genes related to antibiotic resistance.

    Results

    Combined MLST/MVLST data revealed 33 sequence types and a major group. Within the group, 3 subgroups (ST1, ST24 and ST29) were revealed, prevalent in the strains isolated during the 1980s, 1990s and 21st century, respectively. All the O1 isolates after 1990 were found to be El Tor variants harboring the classical ctxB gene. The tcpA gene of O139 strains had a mutation at amino acid position 62 (N→D). Antibiotic resistance of V. cholerae increased over time. Most El Tor variants between 1998 and 1999 were resistant to trimethoprim/sulfamethoxazole. The O139 strain, since its appearance in 1997, had significantly broader spectrum of antibiotic resistance than O1 variants. The presence of the SXT element corresponds to the trend of growing drug resistance.

    Conclusion

    The analysis of genotypic polymorphism and enhanced resistance of V. cholerae indicated continuous variation and evolution of this pathogenic agent in Shandong Province.

    Keywords: Vibrio cholerae, Shandong, Antibiotic resistance
  • Dwi Rejeki, Solikhah Solikhah, Siwi Wijayanti Pages 1816-1824
    Background

    Risk factors of Malaria transmission at cross-boundaries area is important to be identified. This study aimed to identify the risk factors of Malaria transmission at cross-boundaries area in Menoreh Hills, Java, Indonesia.

    Methods

    The design of the study was an observational study with a case-control design. Data on malaria cases and controls were obtained from the Primary Health Care in Menoreh. All malaria positive patients with clinical and laboratory examinations recorded in health services during 1 Jan 2015-31 Dec 2015. Overall, 138 cases and 138 controls were included. Several variables were collected such as altitude, night out behavior, the use of mosquito nets, nighttime bed, travel history, mosquito bite prevention activities, cattle ownership, distance to mosquito breeding site, etc. Data were obtained by structured questionnaires and observation. Data were analyzed by univariate, bivariate and multivariate

    Results

    The altitude of house >500 m above sea level proved to be influential as a risk factor for Malaria (OR 3.62, 95% CI 1.61-8.16, P=0.002). Several variables were identified as a risk factor of Malaria such as the wall of the house from bamboo/wood, no insecticide and distance of house <100 m from mosquito breeding site.

    Conclusion

    An awareness for the local health sector particularly to provide a recommendation for house construction to protect a community from Malaria transmission.

    Keywords: Altitude, Malaria, Menoreh, Risk factors, Indonesia
  • Hui Li, Xiaolan Li, Tingjia Cao, Qiang Zhu, Fuyuan Liu, Heng Zhou Pages 1825-1831
    Background

    We aimed to investigate the effect of copper stainless steel on apoptosis of vascular smooth muscle cells in coronary artery.

    Methods

    The study was carried out in 2019 at Hubei University of Medicine, Xiangyang, China. The rat coronary artery smooth muscle cell was used for cell resuscitation and culture. MTT method was used to visualize cell growth curve and to detect the cell survival and growth. The incubated cells were randomly divided into copper-containing stainless-steel group, ordinary stainless-steel group, and control group. The cells were made into single cell suspension, which were intervened by experimental group and incubated in incubator with CO2 for 48 hours. TUNEL method was used to detect the apoptosis. The number of apoptotic cells in five high power fields (×200) was counted. The expression of Fas protein in three groups of cells was detected by Western blot.

    Results

    The growth curves of rat coronary artery smooth muscle cells showed that the OD value of the cells reached the plateau 7 days after inoculation, indicating that the cells grew well. TUNEL staining showed the apoptosis in all three groups. The apoptotic index in copper-containing group was significantly higher than that in common stainless-steel group (P <0.01). The results of the Fas protein expression level through Western blot showed that the level in the copper-containing group was significantly higher than that in the common stainless-steel group (P<0.01).

    Conclusion

    Copper-containing stainless steel can promote apoptosis of coronary artery smooth muscle cells. The material could prevent stent restenosis.

    Keywords: Copper-containing stainless steel, Coronary artery, Muscle cells, Apoptosis, Fas protein, Restenosis
  • Olivera Djurovic, Olgica Mihaljevic, Snezana Radovanovic, Smiljana Kostic, Marjana Vukicevic, Biljana Georgievski Brkic, Snezana Stankovic, Danijela Radulovic, Ivana Simic Vukomanovic, Svetlana Radevic Pages 1832-1841
    Background

    The aim of this study was to identify the risk factors associated with falling in post stroke patients.

    Methods

    This retrospective case-control study included 561 neurology patients hospitalized for a stroke and divided into two groups: falling patients and non-falling patients. They referred to the Special Hospital for Cerebrovascular Diseases "Sveti Sava" in Belgrade, Serbia, from 2018- 2019. Logistic regression analysis was applied to examine socio-economic factors associated with predictors of unmet healthcare needs.

    Results

    A significant difference was seen in the length of hospitalization of falling patients compared to the non-falling (P<0.001). We established statistically significant differences in mental status (P<0.001), sensibility (P=0.016), depressed mood (P<0.001), early (P=0.001) and medium insomnia (P=0.042), psychomotor slowness (P=0.030), somatic anxiety (P=0.044) and memory (P<0.001).

    Conclusion

    Cerebrovascular disease distribution and the degree of neurological deficit primarily altered mental status, which could be recognized as one of the more important predictors for falling after stroke. The identification of risk factors may be a first step toward the design of intervention programs for preventing a future fall among hospitalized stroke patients.

    Keywords: Falls, Stroke patients, Risk factors, Hospitalization
  • Hui Li, Bo Zeng, Jianzhou Wang, Hua’An Wu Pages 1842-1853
    Background

    Recently, a new coronavirus has been rapidly spreading from Wuhan, China. Forecasting the number of infections scientifically and effectively is of great significance to the allocation of medical resources and the improvement of rescue efficiency.

    Methods

    The number of new coronavirus infections was characterized by “small data, poor information” in the short term. The grey prediction model provides an effective method to study the prediction problem of “small data, poor information”. Based on the order optimization of NHGM(1,1,k), this paper uses particle swarm optimization algorithm to optimize the background value, and obtains a new improved grey prediction model called GM(1,1|r,c,u).

    Results

    Through MATLAB simulation, the comprehensive percentage error of GM(1,1|r,c,u), NHGM(1,1,k), UGM(1,1), DGM(1,1) are 2.4440%, 11.7372%, 11.6882% and 59.9265% respectively, so the new model has the best prediction performance. The new coronavirus infections was predicted by the new model.

    Conclusion

    The number of new coronavirus infections in China increased continuously in the next two weeks, and the final infections was nearly 100 thousand. Based on the prediction results, this paper puts forward specific suggestions.

    Keywords: New coronavirus, Forecasting the number of infections, Grey prediction model, Background valueoptimization, Particle swarm optimization
  • Negar Rezaei, Mahtab Maghsodlu, Ali Sheidaei, Sedigheh Amini Kafiabad, Kimiya Gohari, Maryam Zadsar, Farnaz Delavari, Zohreh Sharifi, Moein Yoosefi, Farshad Farzadfar, Mohsen Asadi Lari Pages 1854-1862
    Background

    High risk blood transfusions can cause a lot of financial and psychological burden to the community. The prevalence of Hepatitis B is useful for evaluating the blood products' safety and donor selection methods. We aimed to predict the prevalence of hepatitis B in Iranian blood donors from 2000-2016.

    Methods

    Positive cases of hepatitis B from 2006 to 2014 were collected from Iranian Blood Transfusion Organization. This database was classified according to the age, provinces, and type of donation. Data was not existed in all subnational levels and all years, therefore, for predicting the hepatitis B prevalence, two separate, Spatio-temporal and mixed model (GLMM) were developed.

    Results

    At the national level, the hepatitis B prevalence declined from 0.69 (0.51 to 0.90) in 2000 to 0.27 (0.21 to 0.33) in 2016. In first-time, regular, and repeated donors, this prevalence declined from 2.31 (1.74 to 2.31), 0.26 (0.19 to 0.34), and 0.51 (0.38 to 0.68) in 2000 to 0.87 (0.69 to 1.09), 0.09 (0.07 to 0.12), and 0.19 (0.14 to 0.24) in 2016. At the provincial level, the highest and lowest prevalence in 2016 was observed in North Khorasan and Gilan. With increasing age, the average prevalence of hepatitis B, increased.

    Conclusion

    Prevalence of hepatitis B in Iranian blood donors has been reduced significantly over 17 years, but still new cases of hepatitis B are reported. By precise monitoring the donor selection process and implementing more sensitive laboratory screening, we can reduce the risk of new infectious agents.

    Keywords: Hepatitis B, Prevalence, Blood donors
  • HosseinAli Nikbakht, Abbas Rezaianzadeh, Mozhgan Seif, Haleh Ghaem Pages 1863-1871
    Background

    We aimed to estimate the exploratory factor analysis (EFA) of metabolic syndrome components based on variables including gender, BMI, and age groups in a population-based study with large sample size.

    Methods

    This study was conducted on 10663 individuals 40-70 yr old in Phase 1 of the Persian Kharameh cohort study conducted in 2014-2017. EFA of the metabolic syndrome components, including waist circumference (WC), systolic blood pressure (SBP), diastolic blood pressure (DBP), triglyceride (TG), high-density lipoprotein (HDL) and fasting blood sugar (FBS), was performed on all participants by gender, BMI (Body Mass Index), and age groups.

    Results

    EFA results in the whole population based on eigenvalues ​​greater than one showed two factors explaining 56.06% of the total variance. Considering factor loadings higher than 0.3, the first factor included: DBP, SBP, and WC, named as hypertension factor. The second factor also included TG, negative-loaded HDL, FBS, and WC, named as lipid factor. Almost similar patterns were extracted based on subgroups. 

    Conclusion

    MetS is a multi-factorial syndrome. Both blood pressure and lipid had a central role in this study and obesity was an important factor in both ones. Hypertension, having the highest factor loading, can generally be a valuable screening parameter for cardiovascular and metabolic risk assessment.

    Keywords: Metabolic syndrome, Factor analysis, Cohort, Iran
  • Niloofar Rashidi, Sassan Rezaie, Seyed Jamal Hashemi, Aziziollah Habibi, MohammadHadi Baghersad, Roshanak Daie, Sadegh Khodavaisy, Heidar Bakhshi, Ali Salimi, MuhammadIbraim Getso, Zahra Rafat Pages 1872-1881
    Background

    Candida albicans remains the main cause of candidiasis in most clinical settings. Available drugs for candidiasis treatment have many side effects. In this work, novel nitroglycerin derivatives were synthesized and their cytotoxic and antifungal effects evaluated against fluconazole susceptible and resistant clinical C. albicans isolates.

    Methods

    This experimental study was performed in Tehran University of Medical Sciences and Baqiatallah University of Medical Sciences, Tehran, Iran between Feb to Dec 2019. The in vitro activities of two novel nitroglycerin derivatives (1b and 2b) against 25 clinical fluconazole-susceptible and resistant C. albicans isolates and four standard C. albicans strains were determined according to CLSI reference M27-A3 documents. The cytotoxicity of chemical compounds was investigated near the SNL76/7 cells by colorimetric assay. Real-time PCRs were performed to evaluate the alterations in the regulation of ERG11 and CDR1 genes under nitroglycerin derivatives-treated and untreated conditions.

    Results

    The derivatives 1b and 2b exhibited potent antifungal activity against C. albicans isolates; MICs and MFCs varied from 18 μg/ml to 72 μg/ml and 36 μg/ml to 144 μg/ml, respectively. The cell viability evaluation demonstrated that both chemical compounds are safe within 24h. The nitroglycerin derivatives were able to reduce the transcription level of CDR1 and ERG11 genes in all susceptible and resistant C. albicans isolates.

    Conclusion

    Considering the potential and efficacy of these compounds against clinical C. albicans isolates, the complementary in vivo and clinical trials should be investigated.

    Keywords: Nitroglycerin, Candida albicans, Antifungal activities
  • Ramin Hamidi Farahani, Emran Esmaeilzadeh, Amir Nezami Asl, MohammadFoad Heidari, Ebrahim Hazrati Pages 1882-1886
    Background

    Human Leukocyte Antigen (HLA) system composed of a group of related proteins with important functions in the immune system. Several studies have reported that there is a significant association between specific HLA alleles and the susceptibility to different infectious diseases. This study aimed to detect the specific HLA alleles that cause higher susceptibility to COVID-19, we analyzed the HLA allele frequency distribution in Iranian patients with a severe form of COVID-19.

    Methods

    Overall, 48 severe cases of COVID-19 that were hospitalized and required intensive care unit (ICU) admission between Oct and Dec 2020 were included in this study. Genomic DNA was extracted from the peripheral blood samples and HLA typing (Locus A, B, and DR) was performed for the patients.

    Results

    After analyzing and comparing the results with a reference group of 500 Iranian individuals, a significant association was found for HLA-B*38, HLA-A*68, HLA-A*24, and HLA-DRB1*01.

    Conclusion

    These results may be valuable for studying the potential association of specific HLA alleles with susceptibility to COVID-19 and mortality due to the disease.

    Keywords: Human leukocyte antigen (HLA), COVID-19, Iran
  • Mina Nejati, Moaven Razavi, Iraj Harirchi, Marzieh Zanganeh, Gholamreza Salari, Seyed Mosa Tabatabaee Pages 1887-1896
    Background

    To estimate the resource use and costs associated to the initial phase of treatment for colorectal cancer in Iran.

    Methods

    A retrospective study was conducted using routinely collected data within Electronic Health Records System (SEPAS), a national database representing public hospitals in Iran between March 20, 2016 and March 19, 2017. Primary end points included healthcare resource use, direct medical and non-medical costs of care in the 12-month study period.

    Results

    The study population included 657 patients with colorectal cancer who underwent surgery and the follow-up chemotherapy. We estimated a total direct cost of $21,407 per patient. The results indicated that direct medical costs were primarily driven by inpatient hospital care, followed by surgery, chemotherapy, and diagnostic services.

    Conclusion

    The initial 12-month of treatment for colorectal cancer, including surgery and the follow-up chemotherapy, is resource intensive. The total direct costs associated to the disease are remarkable, with Inpatient hospital services being the main contributor followed by surgery and chemotherapy.

    Keywords: Colorectal cancer, Costs, Direct medical costs, Resource use
  • Ali Mardi, Hamed Heidary, Seyyed Mohammad Mousavi, Ghasem Khazaei, Eskandar Taghizadeh Pages 1897-1901

    Cystinuria is an autosomal recessive disorder in which the renal reabsorption of cystine, arginine, lysine and ornithine are disturbed. The two genes, the pathogenic forms of which are responsible for the disorder, are SLC7A9 and SLC3A1. In this study, we describe a disease that has a new c.916A> T variant (p. K306 *) in exon 5 of the SLC3A1 gene. This variant results in the NMD phenomenon in which the protein product is not produced because of mRNA destruction. In 2020, blood sample of a 41-yr-old man from east Azerbaijan, Iran together with his parents were collected to be studied. PCR and direct sequencing were performed to detect the possible SLC3A1 variant. Whole-gene sequence analysis done by Mutation surveyor Software revealed a novel nonsense homozygous variant in exon 5 of the gene. Parental Sequence Analysis shows that they are heterozygous. According to ACMG guideline, this variant is considered as pathogen. Finding serious mutations can allow rapid screening for cystinuria by analyzing common mutations. It should also be considered as a pathogenic variant in patients’ cystinuria.

    Keywords: Cystinuria, Kidney stone, Iran
  • Jung Hun Lee, Tae Yeong Kim, Sumera Kausar Malik, Jeong Ho Jeon, Young Bae Kim, Sang Hee Lee Pages 1902-1903
  • Liying Yao, Yiqiong Zhang, Yuqiang Li, Jinkui Lu, Garry Kuan Pages 1904-1906
  • Tae Young Kim, Sang Ho Lee, Me Suk Kim Pages 1907-1909
  • Huijun Zhao, Yiwen Lu, Xuan Wang, Hong Chen, Feng Yao, Xuepeng Sun, Xingya Kuang Pages 1910-1912
  • Nebojsa Mitic, Ljiljana Popovic, Marija Milic, Ivan Radic, Brankica Popovic Pages 1919-1921
  • Zahra Kakooei, Gholamreza Mowlavi, Iraj Mobedi, Zabih Zarei, Farzaneh Zahabiun Pages 1922-1923
  • Nageen Hussain Pages 1924-1925
  • Mohsen Bayati Pages 1926-1929
  • Asiyeh Dejkam, Kareem Nahavandi Pages 1930-1931
  • Maryam Askari, Seied MohammadReza Aghaee Meybody, Saeed Hossein Khalilzade, Nasim Namiranian Pages 1932-1934