Background: Neural tube defects (NTDs) are among the second most common serious birth defects and constitute a major cause of infant death. Research about NTDs has achieved tremendous progress over the last 50 years.

Methods: Visualization analysis has been used to explore the hot topic and their emerging trends in NTDs research domain. The scientific literature of research for NTDs has been retrieved from Web of Science™ Core Collection (1966–2014) databases, and final acquire 9125 related bibliographic records, then analyze time trend, distribution of journals, hot keywords, and try to explore the hot topic and their emerging trends in NTDs research domain using Histcite and CiteSpace.

Results: The number of publications about NTDs have shown an increased tendency over the last 50 years although there was on a slight decline. Birth Defects Research Part A published the most articles on NTDs research, followed by Lance and Teratology, and the Lancet had the greatest number of total citations. The largest cited frequency keywords was the “Folate”, followed by “Pregnancy”, “Prevention”, and “Spina bifida”. The research hotspots in NTDs research were homocysteine, anencephaly, and screening.

Conclusion: With the help of visualization analysis, we explore a quantitative and efficient way of understanding the NTDs knowledge field.

Background: Abortion is the ending of pregnancy due to removing an embryo or fetus before it can survive outside the uterus. Some women suffer from psychological disorders such as anxiety, depression and grief after abortion. Early detection of high-risk women after abortion and psychological intervention is one of the healing methods than can lead to improving outcomes but its effectiveness is not clear. The present meta-analysis evaluated the efficacy of this approach.

Methods: The international and national electronic databases were searched from Jan 1998 until Aug 2018 including Medline, Web of Knowledge, Ovid, Embase, PubMed, Scopus, Cochrane, ScienceDirect, PsycINFO, ProQuest, Google Scholar, Iranmedex, Scientific Information Database (SID), and Magiran. The pooled mean difference with the random-effects model was used for meta-analyses. The preferred reporting items for systematic reviews and meta-analyses guidelines adhered in this study.

Results: We enrolled 7 relevant studies involving 918 subjects into the meta-analysis process. The meta-analysis of the interventions aiming at prevention of post-abortion grief yielded a pooled standardized mean difference (SMD) of −0.03 (95% CI: −0.40−0.34; Z=0.16; P=0.87) at post-test and of -0.21 (95% CI:-0.53-0.10; Z=1.32; P=0.19) at follow-up.

Conclusion: This systematic review found psychotherapy-based interventions are effective in post-abortion grief treatment but; we found psychotherapy-based interventions are somewhat effective in short-term post-abortion grief and it has a better effect on long-term grief.

Background: Due to existence of nuclear power plant sites in various parts of the world, as well as political threats in disaster-prone areas throughout the world, there is a probability of nuclear and radiation incidents. The present study aimed to extract effective criteria in emergency department preparedness of hospitals in radiation, nuclear incidents and nuclear terrorism in different countries around the world.

Methods: A systematic search was carried out in Cochrane Library, PubMed, Scopus, Science Direct, Web of Science, ProQuest and Embase databases between Jan 1970 and Jul 2018. The systematic search was carried out according to the PRISMA standard. The required information was extracted from the papers based on the abstract and collection form.

Results: Overall, 1091 papers were finally extracted. The initial search included research papers. After reviewing the papers’ titles, abstracts and full texts, 15 papers were selected for final analysis. Next, 32 criteria were extracted. The criteria were divided into 3 categories. The categories included staff, stuff and systems (structure). The most frequent criteria included training criteria, personal protective equipment, decontamination and practice.

Conclusion: The results of the systematic review provided an overview of the effective factors in improving the emergency department preparedness during radiation and nuclear incidents. In addition to the mentioned criteria in different studies, other hidden factors affect the emergency department preparedness in radiation and nuclear incidents. Thus, the highest level of preparedness should be considered.

Given concerns over the public and individual health status of modern society and the scarcity of research on mobility and the health nexus, taking a personalist perspective grounded in spillover theory integrated with broaden-and-build theory, this study uses preventive science ideology and explores the links between tourism and public health through the illustration of the effects of travel on people’s personal, mental, and social well-being (PMS-web). A comprehensive review of the literature which is based on themes initiated from WHO (1948) statement: “Health is a state of complete physical, mental and social well-being and not merely the absence of disease or infirmity” was adopted. Physical, mental, and social (PMS) well-being and tourism/travel keywords were used to search top tier journal articles via the Web of Science and google scholars’ search engines. Findings revealed that a positive linkage exists between travel/tourism and the PMS well-being of individuals that contribute considerably to their state of health per se and is vital to the public health in societies. Although the reviewed tourism literature includes plentiful studies on health/medical tourism or the health issues of host/guests, the lack of focus on the nexus of tourism and public health is sensible.

Background: Leisure activities contribute to a healthy retirement and increase the life satisfaction of the elderly, who may suffer from a stronger sense of emotional isolation, depression, and loneliness.

Methods: A total of 397 elderly Koreans aged 65 and over participated in this study on the differences in healthy aging and happiness depending on type of leisure activity (i.e., active, passive, and social activities). A cross-sectional survey design with a purposive sampling method to collect data were employed. SPSS 23.0 was used to conduct descriptive statistics analysis, reliability analysis, validity analysis, and one-way MANOVA.

Results: In terms of social health, the passive leisure participants had relatively lower mean scores than the other two groups. For the physical health factor, the active leisure participants had higher mean scores. There were no statistically significant differences in the levels of psychological health and happiness with life for the elderly participating in the active, passive, and social leisure activities. This study found that only active leisure activities help the elderly to enjoy their old age by increasing their physical health, indicating that the dissatisfaction and unhappiness incurred with the natural aging process can only be offset by a physical lifestyle. Furthermore, passive leisure activities that are enjoyed alone may impede a socially-healthy aging process.

Conclusion: While all forms of leisure activity can provide emotional stability, active leisure activity was deemed the most important in this study, as it helped resolve the most significant hurdle to maintaining health.

Background: To explore the changes of miR-130a and endothelin -1 (ET-1) and their predictive value for in-stent restenosis (ISR) after percutaneous coronary intervention (PCI).

Methods: Overall, 253 patients with coronary heart disease (CHD) treated with PCI in Lianshui County People's Hospital, Huaian, China from April 2013 to May 2016 were selected. The changes of miR-130a and ET-1 levels before and after PCI were compared. The predictive value of miR-130a and ET-1 for ISR was analyzed by receiver operating characteristic (ROC) curves, and the correlation between ISR and miR-130a, ET-1 was analyzed by Kaplan-Meier (K-M) curve. The risk factors of ISR in CHD patients were evaluated by logistics regression analysis.

Results: The postoperative levels of miR-130a and ET-1 were significantly increased (P<0.05). The levels of miR-130a and ET-1 in peripheral blood of patients with ISR were higher than those in patients without ISR (P<0.05). The ROC curves showed that the area under curve (AUC), sensitivity, specificity and critical value of miR-130a in predicting ISR were respectively 0.912, 92.02%, 73.47%, 1.457 pmol/L, and those of ET-1 were 0.814, 87.63%, 63.27%, 2.245 pmol/L, respectively. The K-M curve showed that the incidence of ISR in patients with high expression of miR-130a or ET-1 was significantly higher than that in patients with low expression (P<0.05). miR-130a and ET-1 were independent risk factors for ISR (P<0.05).

Conclusion: MiR-130a and ET-1 have high predictive value for ISR after PCI and are independent risk factors for CHD patients, which are worthy of clinical application.

Background: Community vulnerability is influenced by the low participation of the community in Pemberantasan Sarang Nyamuk (PSN). PSN is an activity done by society independently in their respective environment to eliminate mosquito-breeding places by 3 M (Menguras, Menutup, Mengubur). We aimed to prove the relationship between knowledge and practice of the community in PSN with the incidence of Dengue Hemorrhagic Fever (DHF), beside to describe the map of vulnerability of the community in endemic areas of DHF.

Methods: This study used case control design. The population of this research is the community in the area of Puskesmas Kembaran 1 and 2. The samples were taken from Bojongsari villageas, Banyumas districtis, Indonesia one of the endemic areas of DHF from Jan 2014- Dec 2015. The number of samples was 62 respondents.

Results: The community in endemic areas of knowledge about dengue was mostly good (55%) but in practice PSN was mostly less (56%). There was no correlation of knowledge with the incidence of DHF (P=0.444) and there was an association of DHF occurrence with PSN practice (P=0.010) and the vulnerability map showing many negative DHF residents living close to dengue cases.

Conclusion: Community vulnerability in DHF endemic areas is dominated by densely populated settlements, Slum environmental conditions, and PSN practices are lacking. Mobilization of all components of the communityis required to participate in prevention of DHF.

Background: Expression of miR‑92b in oral squamous cell carcinoma (OSCC) rat tissue and its effect on the OSCC CAL‑27 cells were investigated.

Methods: The study was performed in Qingdao Stomatological Hospital, Qingdao, China on December 2018. Thirty Wistar rats were used to construct models of oral squamous cell carcinoma. CAL‑27 cells trascfected by Lipofectamine 2000 were divided into miR‑92b inhibitor, miR‑NC and blank groups. RT‑qPCR was used for the detection of the expression level of miR‑92b, and MTT and flow cytometry were carried out for the detection of the effect of miR‑92b on the proliferation and apoptosis of CAL‑27 cells, respectively.

Results: The expression level of miR‑92b was significantly higher in tumor tissues than that in normal tissues (P<0.001). The miR‑92b inhibitor group had significantly lower proliferation ability but higher apoptosis rate of CAL‑27 cells than the miR‑NC and blank groups. After miR‑92b was downregulated by trans-fecting cells, the expression level of miR‑92b was significantly lower in the miR‑92b inhibitor group than that in the miR‑NC and blank groups.

Conclusion: miR‑92b inhibitor can inhibit the proliferation of CAL‑27 cells and promote apoptosis, which provides certain references for clinical treatment. It is expected to be a potential target for treating OSCC.

Background: There are little data on the current condition of national immunization programme (NIP) in Libya. In 2013, pentavalent rotavirus vaccines were added to the NIP. Incomplete rotavirus vaccine series may result in lower vaccine effectiveness. The study aimed to assess timeliness and coverage rates of routine NIP vaccinations including the newly introduced rotavirus vaccine in Libya.

Methods: A prospective cross-sectional study of children aged 0 to 18 months was carried out in vaccination centers of two north-western cities. Data were collected during Nov-Dec 2016 from vaccination cards of children. Child age and doses received in previous visits were documented.

Results: Overall, we included 1023 children assessed in 29 visits at six vaccination centers. In children aged 18 months, coverage rates for all doses of BCG, OPV, HepB, pneumococcal, Meningococcal and MMR vaccines exceeded 95%. Coverage rates for second and third doses of rotavirus vaccines were 89% and 68%, respectively. Most (75%) children who missed the third dose of rotavirus vaccine were aged >8 months when at the time of appointment for the third dose.

Conclusion: Overall, the coverage rate for routine vaccination in children assessed at immunization centers in northwest Libya was high. Lower coverage of full pentavalent rotavirus vaccine series may have been the result of exceeding the age restriction. Measures to improve timeliness of vaccination appointments should be assessed. Lifting the age restriction on rotavirus vaccines should be considered for at-risk population.

Background: This study was conducted to evaluate the eating attitudes and behaviors, the susceptibility to Orthorexia nervosa and obsessive attitudes of the students who were taking undergraduate education in the field of health and the students who were not taking undergraduate education in the field of health at the time of the study.

Methods: This cross-sectional study was conducted at Akdeniz University with randomly selected 304 students who were studying in the Faculty of Medicine, Nursing Law and Communication, Antalya, Turkey. Data, socio-demographic features of the students were collected using the questionnaire form consisting of Eating Attitude Test (EAT-40), The Orthorexia Nervosa Evaluation Scale (ORTO-15) and Maudsley Obsessive-Compulsive Inventory (MOCI).

Results: 61.5% of the students were female. 51.9% of them were studying in the health field, while 48.1% of them were studying in other fields. At the beginning of the study, the use of ORTO-15 scale was planned to evaluate the students' orthorexic behaviors, but they were evaluated with the ORTO-11 scale because of the validity and resusceptibility of the ORTO-15 scale were found as too low. The incidence of orthorexic behavior was higher in students who were not studying in the field of health for both ORTO-15 and ORTO-11 scales.

Conclusion: It is necessary to acquire healthy eating habits for university students by practical nutrition education given informal and non-formal education institutions, thus their quality of life can be increased.

Background: Fenghua County, located on the eastern coast of Zhejiang Province, showed a higher stroke incidence than other counties of Ningbo Municipality while the potential epidemiology pattern was not explored.

Methods: The study data of first-ever stroke cases were collected from the Internet-based Comprehensive Chronic Disease Surveillance System (ICDSS) in Zhejiang Province. Spatio-temporal analysis and time series model were explored and constructed to identify the epidemiological characteristics in local.

Results: A total of 10215 first-ever strokes were reported in Fenghua County from 2009 to 2015, including 8292 ischemic strokes (81.18%), 1839 hemorrhagic strokes (18.00%), and 84 unclassifiable strokes (0.82%). According to occupational distribution, peasants had the highest proportion (82.59%). Also, ischemic stroke was the main stroke subtype with a proportion of 81.18%. Space-time scan analysis, among 26 residential communities in Fenghua County from the period of 2009-2015, presented that only one most likely cluster was identified in 2009 with the relative risk (RR) value of 1.15. Besides, the ARIMA (0,1,2) model was determined as the optimal one to predict the trend of stroke.

Conclusion: Under the trend of an aging population, the stroke incidence in Fenghua County was increased with the ischemic stroke as the main subtype. Peasant groups and persons in middle age and above were the targeted objects for the control and prevention of stroke. Besides, specific interventions, like hypertension health management and health education, should be strengthened to reduce the incidence of stroke effectively in the future.

Background: We aimed to investigate the relationship between miR-596, BCL-2, and apoptosis of gastric cancer cells, and to explore the mechanism of miR-596 in gastric cancer. Besides, this study aimed to find the target of miR-596 and explore the mechanism of action of miR-596 in gastric cancer.

Methods: Eighteen samples of gastric cancer tissues and 18 samples of corresponding tumor-adjacent tissues were collected from 18 gastric cancer patients (aged from 40 to 55 yr) admitted to Zhuji People's Hospital, Zhuji, China from March 2017 to May 2018. The expression levels of miR-596 and BCL-2 were detected to verify the regulation of miR-596 on the apoptosis and proliferation of gastric cancer cell lines MKN-45 and HGC-27 and its effect on BCL-2 expression. 

Results: The expression level of miR-596 was notably lower in gastric cancer tissues than in adjacent tissues, and BCL-2 level was notably higher in gastric cancer tissues than in adjacent tissues. After the up-regulation of miR-596 expression, the proliferation of MKN-45 and HGC-27 cells was significantly decreased, the level of apoptosis was significantly increased (P<0.05), and the expression of BCL-2 was decreased. The dual-luciferase report showed that miR-596 had a targeting inhibition of BCL-2. Gastric cancer cells with up-regulated miR-596 and BCL-2 had significantly higher proliferation and lower apoptosis than cells with up-regulated miR-596.

Conclusions: miR-596 can inhibit the proliferation of gastric cancer cells and promote the apoptosis through its targeting inhibition of BCL-2 expression.

Background: It is difficult to make an exact morphological distinction between Fasciola hepatica and Fasciola gigantica. We used High Resolution Melting analysis (HRM) method to differentiate the F. hepatica species from F. gigantica in order to differentiate them.

Methods: Overall, 80 adult liver flukes were collected from infected slaughtered animals including cattle, sheep and goats from Lorestan Province, western Iran from Sep 2015 to Aug 2017. Genomic DNA was extracted using commercial DNA extraction kit. The multilocus sequences of mDNA including COX1, COX3 and ND6 were amplified employing real-time PCR & HRM analysis. Specific and universal primer pairs were designed for differentiation Fasciola spp.

Results: Universal primers cannot be used to distinguish between these two species, but in the contrary, specific primer pairs of each species could differentiate them properly. Molecular identification using specific primer pairs were consistent.

Conclusion: HRM is a simple, fast and reliable method for detecting and differentiating F. hepatica from F. gigantica and can be used for diagnostic and epidemiological purposes.

Background: We aimed to investigate antimicrobial resistance and clonal relationships among poultry Escherichia coli isolates from different broiler farms and their relationships with Extended-Spectrum Beta-Lactamase (ESBL) producing urinary pathogenic E. coli (UPEC) isolates from the same geographical area.

Methods: Twenty four E. coli isolates from six broiler farms with colibacillosis and 97 ESBL producing human UPEC isolates were investigated for resistance to critically important antimicrobials in human medicine in Shiraz, central Iran in 2015-16. In addition, clonal relationships of these isolates were investigated with Pulse Field Gel Electrophoresis (PFGE).

Results: As expected, cephalosporins and imipenem resistance were significantly higher in ESBL producing human E. coli isolates in comparison with non-ESBL avian pathogenic E. coli (APEC) isolates. In addition, significantly higher percentages of gentamycin and trimethoprim-sulfamethoxazole resistance were seen in human isolates. In contrast, nitrofurantoin resistance was significantly higher in APEC isolates. Based on PFGE patterns, five clusters were identified in APEC isolates. Isolates from each farm were closely related to each other by PFGE patterns. However, different PFGE restriction profiles were seen among the E. coli isolates from different broiler farms. Comparison of PFGE patterns among APEC and UPEC isolates showed two closely related PFGE patterns.

Conclusion: There were clonally related E. coli isolates caused the outbreaks of colibacillosis within broiler farms. Some of these isolates had closely related PFGE patterns with human UPEC isolates which suggest avian pathogenic E. coli strains as a potential zoonosis.

Background: The implementation of Family Physician Program (FPP) in Iran during the past decade, despite of its numerous achievements, has faced many challenges. We aimed to compare the implementation and the performance of FPP in Iran with selected countries, in order to analyze those challenges and suggest potential solutions.

Methods: This current descriptive-comparative study was conducted in 2015. The implementation and the performance of the FPP in Iran and six countries (Canada, Australia, United Kingdom, Denmark, United States and the Netherlands) were described and compared. The criteria for selection of these countries were the existence of well-established FFPs and ease of access to data required to conduct the research. A documentation checklist of the implementation status and FPP practice was prepared. The checklist’s content validity was established by an independent 10 member expert panel, specializing in the field of Family Medicine. The conclusive checklist was finalized for each country, based on inter-rater agreement of the three researchers and used as a basis for this comparative study.

 Results: This study revealed significant differences in implementation of the FPP and relatively low differences in FPP performance between Iran and the selected countries.

Conclusion: Implementation and performance of FPP and patient referral system in Iran struggles with serious challenges and burdens, in contrast with the selected reviewed countries. As such, modification of the FPP in Iran seems to be a must. Such modification may include developing educational programs for FPs, clearly defining the duties and practices of FPs, and revising their reimbursement and employment status.

Background: The role of T cells in the pathogenesis of Hashimoto’s thyroiditis is well established, whereas the precise and likely the overlapping contributions of different T-cell subpopulations to thyroid injury are less understood. The purpose of this study was to assess the expression pattern of two lineage determining transcription factors, T-bet and GATA-3 that regulate differentiation of T cells into Th1 or Th2 cell fates, respectively. Moreover, the mRNA expression and plasma concentration of Th1(IFN-γ) and Th2(IL-4) cytokineswere analyzed.

Methods: In this case-control study, reverse transcription-quantitative polymerase chain reaction (RT-qPCR) was performed to determine the expression patterns of various transcripts in 20 patients (in Endocrinology Clinic, Imam Khomeini Hospital Complex, Tehran University of Medical Sciences, Tehran, Iran, in 2015) with Hashimoto’s thyroiditis (HT) and 22 healthy controls. Plasma IL-4 and IFN-γ concentrations were also measured using enzyme-linked immunosorbent assay.

Results: T-bet gene expression was significantly lower in patients compared to healthy controls (P=0.014). The expression of IL-4 mRNAs was significantly increased in the
 peripheral blood mononuclear cells from patients as compared to normal controls (P=0.001). In addition, a marked increase in plasma IL-4 levels were observed in patient group compared to controls (P=0.043).

Conclusion: Altered balance between Th1 and Th2 related transcription factors and cytokines may be implicated in the pathogenesis of Hashimoto’s thyroiditis.

Background: JC polyomavirus (JCV) is an epitheliotropic and neurotropic virus that identified in relationship with some devastating complications such as progressive multifocal leukoencephalopathy (PML) and linked to colorectal cancer. The aim of current study was to identify the prevalence of JCV in colorectal cancer for the first time in Iran.

Methods: This retrospective case-control study was conducted by the hospitals affiliated to Iran University of Medical Sciences, Tehran, Iran from 2011 to 2016. Formalin-fixed paraffin-embedded (FFPE) blocks were used for DNA extraction by QIAamp® DNA FFPE Tissue Kit. The SYBER Green Real-time PCR assay performed by specific primers for JCV T-Large Ag. Melting curve analysis used for evaluation of amplification specificity. Positive control cloned in pTZ57R/T plasmid by Generay Biotechnology system.

Results: Of 157 specimens 66 were colorectal cancer by the mean age (y) ± std. deviation 59.35±14.48 and 91 healthy control by the mean age (y) ± std. deviation 57.21±14.66. All 157 specimens tested for JCV T-Large Ag gene by Real-time PCR method and we found that there was not any positive result although the melting analysis showed specificity of positive control amplification.

Conclusion: Low prevalence of JCV infection in Iranian CRC population confirmed by the current study results; there was not any JCV positive result in CRC and healthy control groups. Further studies by broader and different populations are recommended.

Background: At present, researchers were aimed at exploring the epidemiology of tuberculosis (TB) in Golestan Province in North of Iran that usually ranks 2nd or 1st, alternatively.

Methods: An epidemiological study of 11 years was carried out over 8405 patients with TB from 2005 to 2014 years. Data were collected from Health System of the Ministry of Health in Iran using a patient- sheet. Descriptive statistics were applied to report the results.

Results: Of those screened, the vast majority of patients with newly diagnosed smear-positive 1799 (41.6%) and smear-positive with relapse 203 (56.5%) were referred from Health System (outpatient cases). Given the newly diagnosed TB, 3559 and 264 of smear-positive were treated and died, respectively; while, 1196 and 119 of smear-negative cases were accordingly treated completely and died.

Conclusion: The vast majority of TB cases are infected by pulmonary TB, educational preventive programs seem likely more useful to control the disease.

Background: Breastfeeding as a normal way provides all the nutrients for infant’s growth and development. World health organization (WHO) growth standards are definitely recommended for breastfed infants monitoring. We attempted to compare the growth of males and females exclusively breastfed infants founded on WHO standards and to assess whether the infant growth is consistent with the growth standard of WHO.

Methods: Data was roundup from two surveys, a clinic owned by a physician and four public health organization instructed from 2011-2016 containing 500 healthy infants exclusively breastfed, aged birth up to 6 months, in northeastern Iran, Mashhad.

Results: Growth criteria for male infants were significantly higher than females P<0001. Founded on WHO standards, the growth was different between female and male infant's weight at 1-2 months P=0.034. Moreover, height at birth and 5-6 months of age P=0.003 and <0.001. Furthermore, newborns’ head circumference P=0.003, and 4-5 months of age, P=0.019. There were no significant differences at the other months of age between growth indexes of males and females. Growth indexes in 70% of infants in these months of age were observed within normal range and similar to WHO standards, especially in male infants.

Conclusion: Growth indexes were similar to WHO standards. However, in Iran, these breastfed growth standards are not respected. Implementing WHO standards may have important implications for child health programs, which leads to monitoring of correct growth of breastfed infants and preserving exclusive breastfeeding with developing nutritional intervention program.

Background: Acne Vulgaris is a common skin condition in 35%-90% of youth. Although traditional methods of treating acne in Iran seem to be common and high demand, a few studies about this issue have been accomplished. This study aimed to find out how much definitions and recommendations about this condition in Traditional Persian Medicine (TPM) are similar to contemporary medicine.

Methods: Seven main reference books from TPM were selected. The equivalents of acne in TPM were found and comparison of the definitions and recommendations of TPM and CM were extracted. Two diseases called Namlah and Bosoor-Labanieh were most similar to acne. These keywords were searched in TPM Books by using “Noor software”.

Results: In TPM references, two diseases of “Namlah” and “Bosoor-Labanieh” are very similar to acne. The cause of these diseases in TPM textbooks has been explained as the effort of the body for the disposal of wastes through the skin and accumulation of them below it. The treatments are lifestyle modification, drug therapy, and manual interventions.

Conclusion: Interventions of TPM have been experienced by Iranian physicians of the Old Testament over hundreds of years. There are meaningful similarities among TPM texts in descriptions and advice. In addition, there are remarkable similarities in the disease characteristics and some of the recommendations for acne in TPM and CM. The effectiveness and cost-benefit of the recommended TPM therapeutics and methods can be considered and evaluated as hypotheses for the case and group studies and clinical trials.

The Charcot-Marie-Tooth disease is a group of progressive disorders that affects the peripheral nerves and results in loss of sensation and atrophy of muscles in lower limbs. There are several types of Charcot-Marie-Tooth and multiple genes are associated with this disease. Distal spinal muscular atrophy is an extremely rare disorder characterized by progressive pure lower motor neuron involvement. A 24 yr old woman using wheelchair referred to Farhud Genetic Clinic, Tehran, Iran in 2019, with progressive muscular atrophy, pain and Electromyography test suggesting Charcot-Marie-tooth. Both feet and hands were involved. Whole exome sequencing was performed on extracted DNA from her blood sample. We report the first case of a patient with different types of Charcot-Marie-Tooth and distal spinal muscular atrophy simultaneously, which are as a result of mutations in multiple genes; this case is very uncommon.

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