Background: Uric acid level has shown a certain relationship with the incidence of post-contrast acute kidney injury (PC-AKI), whereas it remains controversial whether hyperuricemia can function as a predictor of PC-AKI in patients with different basic creatinine serum level. The present meta-analysis aimed to investigate whether hyperuricemia is an independent risk factor for PC-AKI and to explore the relationship between hyperuricemia and basic renal function.

Methods: Relevant studies were retrieved via searching in PubMed, Embase, Cochrane Library, and WAN FANG electronic databases from inception to Jan 2022. Only studies published in English and Chinese languages were selected.

Results: Overall, 11892 patients from 15 studies were included. The results of the pooled analysis revealed that the incidence of PC-AKI was significantly higher in the hyperuricemia group than that in the normouricemic group (20.62% vs. 13.05%). Hyperuricemia was associated with an increased risk of the incidence of PC-AKI (odds ratio (OR): 2.48 [95% confidence interval (CI): 1.77-3.46%]). The pooled ORs for mortality and incidence of undergoing renal replacement therapy were 2.33 (95% CI:1.81-3.00) and 8.69 (95% CI:3.22-23.44%), respectively. Comparatively, the pre-existing renal dysfunction subgroup had a lower relative risk in the hyperuricemia population.

Conclusion: Hyperuricemia was found to be significantly associated with the incidence of PC-AKI. The effect of serum uric acid level on the incidence of PC-AKI was higher in patients with normal renal function, which could lay a foundation for the establishment of individualized schemes to prevent PC-AKI by urate-lowering therapy.

Food security, which is considered to be a public health-related socioeconomic factor, ensures the health of society's people and plays a significant role in improving governance. This concept is closely related to the concept of stability of food. The stability of food means that there should be adequate, quality, and nutritious food for all human beings, in all places and at all times, and no factor should prevent this important issue. Stability in food production and supply is at the heart of food security and makes food systems resilient in times of crisis. The negative impact of climate change on agricultural production, intensified inflationary trends, high food prices, increasing food waste, increasing the need for food imports, and, more significantly, ongoing international sanctions make it difficult to access affordable food and pose challenges to Iran's food security. Moreover, the COVID-19 crisis has reduced the incomes of families and government by intensifying economic pressures on government incomes as well as rising unemployment, which has directly exacerbated food insecurity. The link between indicators of food stability and food security in Iran is the subject of this article. The key indicators selected are the percent of arable land equipped for irrigation, the cereal imports dependency ratio, the value of food imports over total merchandise exports, per capita food production variability, and, per capita food supply variability. Results show Iran is vulnerable to the arable land equipped for irrigation, food imports over total merchandise exports, and the cereal imports dependency ratio while being resilient per capita food production and food supply variability.

Background: Climate change based on temperature, humidity and wind can improve many characteristics of the arthropod carrier life cycle, including survival, arthropod population, pathogen communication, and the spread of infectious agents from vectors. This study aimed to find association between content of disease followed climate change we demonstrate in humans.

Methods: All the articles from 2016 to 2021 associated with global climate change and the effect of vector-borne disease were selected form databases including PubMed and the Global Biodiversity information facility database. All the articles selected for this short review were English.

Results: Due to the high burden of infectious diseases and the growing evidence of the possible effects of climate change on the incidence of these diseases, these climate changes can potentially be involved with the COVID-19 epidemic. We highlighted the evidence of vector-borne diseases and the possible effects of climate change on these communicable diseases.

Conclusion: Climate change, specifically in rising temperature system is one of the world’s greatest concerns already affected pathogen-vector and host relation. Lice parasitic, fleas, mites, ticks, and mosquitos are the prime public health importance in the transmission of virus to human hosts.

Background: We aimed to determine the association between maternal infections during pregnancy with risk of Attention-Deficit Hyperactivity Disorder (ADHD) in children.

Methods: A systematic literature search was performed utilizing the online databases PubMed, Scopus, and Web of Sciences up to July 2020. Random-effects meta-analyses were applied to estimate pooled relative risk (RR). Heterogeneity, study quality and publication bias were assessed through I² value, Newcastle–Ottawa scale (NOS) and Egger's test, respectively.

Results: Thirteen articles involving 1401904 mother-child pairs were included. The result of meta-analysis showed that the risk of ADHD increased by 30% among children whose mothers took any infections during pregnancy (pooled RR=1.30, 95% CI: 1.14-1.49; I²=85.5, P<0.001). Overall, the included studies were good in quality and no publication bias was found (P=0.23, Egger’s test).

Conclusion: Maternal infections during pregnancy might be associated with an increased risk of ADHD in children.

Background: Oral squamous cell carcinoma (OSCC) is one of the most common malignancies and is a serious problem worldwide. The role of HPV in oral cavity squamous cell carcinoma has been studied in several researches. This present review and meta-analysis aimed to investigate the relation between human papillomavirus (HPV) and oral cancer.

Methods: Relevant studies were found using online international databases including Science direct, Web of science (ISI), PubMed, Scopus, Embase, and Google scholar, to determine relevant studies published between 2000 and Jan 2020. Suitable studies were selected and assessed by two independent researchers. The quality of all papers were determined by a checklist. Heterogeneity assay among the primary studies was evaluated by Cochran's Q test and I2 index. The statistical analyses were done using Stata SE, V.11 software. Trim and Fill method was applied to confirm the validity of the results.

Results: This meta-analysis consists of 8 primary studies on the incidence of HPV infection in Iranian patients with oral diseases. The odds ratio between HPV infection and risk of oral cancer was 4.00 (95%CI: 2.31, 6.93).

Conclusion: This meta-analysis showed associations between prevalence of HPV infection and oral cancer among Iranian patients. The chance of developing oral cancer among HPV positive patients was higher than that in HPV negative patients.

Background: This cross-sectional study was conducted to investigate the psychosocial effects of noise on employees in Hydroelectric Power Plants in Turkey.

Methods: The study was conducted in 2018, in operating Hydroelectric Power Plants located in the city of Artvin in Turkey with 110 employees. Data were collected by performing noise measurement, blood pressure measurement and using descriptive characteristics form and Depression, Anxiety and Stress Scale.

Results: The average personal noise of the sample was 72.3±0.8 dB(A). The blood pressure of the employees were within normal limits. There was no significant difference between the noise levels and the sub-dimensions of the scales used.

Conclusion: The measured mean noise of the sample was within normal limits as per the regulations regarding the protection of employees from noise. Measured BP means of employees during working and resting hours were within normal limits. DASS-42 subscale scores exhibited no difference depending on the noise level.

Background: Vitiligo is a common depigmentation disease characterized by progressive destruction and disappearance of epidermal melanocytes. Exosomes have been discovered to regulate the pigment status of melanocytes. We aimed to explore the role of exosomes from peripheral blood of vitiligo patients on melanogenesis.

Methods: Human melanocytes cell line PIG1 was treated with exosomes from the healthy volunteers or exosomes from the vitiligo patients referred to the Department of Dermatology, Children’s Hospital Affiliated to Zhengzhou University, China and transfected with miR-21-5p mimic or inhibitor. Exosome labeling assay was used to assess whether exosomes were absorbed by melanocytes. Melanin content and tyrosinase activity assays were performed to investigate melanogenesis in melanocytes. The levels of melanogenesis-related genes and proteins were detected by RT-qPCR and western blot assays. Dual-luciferase reporter assay was performed to confirm the relationship between miR-21-5p and special AT-rich sequence binding protein-1 (SATB1).

Results: Exosomes from peripheral blood of vitiligo patients were transferred into melanocytes and suppressed melanin content, tyrosinase activity and melanogenesis-related genes and proteins levels. Besides, miR-21-5p was highly expressed in exosomes from peripheral blood of vitiligo patients. The results of the gain- and loss-of-function experiments demonstrated that miR-21-5p inhibited the melanogenesis of melanocytes. Furthermore, miR-21-5p inhibitor abolished the inhibitory role of exosomes from peripheral blood of vitiligo patients. Subsequently, miR-21-5p directly targeted SATB1 in melanocytes. Furthermore, overexpression of SATB1 reversed the inhibitory roles of miR-21-5p mimic on melanin content, tyrosinase activity, and melanogenesis-related protein expression.

Conclusion: Peripheral blood of vitiligo patients-derived exosomal miR-21-5p inhibited melanocytes melanogenesis via targeting SATB1.

Background: We aimed to evaluate the relationship between HATCH score [hypertension, age >75 yr, previous transient ischemic attack (TIA) or stroke (doubled), chronic obstructive pulmonary disease, heart failure (doubled)] and in-hospital mortality in COVID-19 patients.

Methods: Overall, 572 COVID-19 patients hospitalized between Mar 15 and Apr 15, 2020, were included in this multicenter retrospective study, in Turkey. The HATCH score of each patient was calculated. Mortality results were followed for 50 days. The patients were divided into 2 groups developing mortality (n=267) and non-mortality (n=305). Clinical outcomes were defined as in-hospital mortality improvement status.

Results: HATCH scores in non-survivors of COVID-19 were significantly higher than in survivors (P<0.001). In logistic regression analysis, HATCH score (OR: 1.253, 95% CI: 1.003–1.565; P=0.047), platelet count (OR: 0.995, 95% CI: 0.993-0.998; P<0.001), C-reactive protein level (OR: 1.010, 95% CI: 1.007-1.013, P<0.001) and estimated glomerular filtration ratio (eGFR) level (OR: 0.963, 95% CI: 0.953-0.973; P<0.001) were independent predictors of in-hospital mortality in COVID-19 patients.

Conclusion: The HATCH score is useful in predicting in-hospital mortality in patients hospitalized with COVID-19.

Background: We examined the relationships of compassion satisfaction and fatigue among shift nurses on nursing engagement activities related to patient safety with the aim of improving shift nurses’ physical and psychological aspects in order to use the findings as a basis to enhance nurses’ engagement in activities related to patient safety.

Methods: The data collection period for this cross-sectional study was from Nov 21, 2019, to Jan 3, 2020. A convenience sample of 280 shift nurses who were working for more than six months at three tertiary hospitals in Korea was used. Collected data comprised general and job-related characteristics of subjects, compassion satisfaction, compassion fatigue, and patient safety nursing activities. SPSS was used for statistical analysis, and multiple regression analysis was used to examine the relationship between shift nurses' compassion satisfaction, compassion fatigue, and patient safety nursing activities

Results: Compassion satisfaction had the greatest impact on engagement in nursing activities related to patient safety (β= .32, P<.001), followed by compassion fatigue. Higher compassion satisfaction and lower compassion fatigue indicates a higher engagement in patient safety-related nursing activities (β= -.15, P<.008).

Conclusion: In order to maximize compassion satisfaction and reduce compassion fatigue among shift nurses, it is important for health policymakers to improve their welfare system and create a supportive environment where negative emotions can be expressed freely and accepted positively.

Background: In 2015, in Csongrád County (Hungary), a general practitioner based colorectal screening model program was implemented by the financial support of the European Union. Our aim was to evaluate the indicators of screening program and to analyze the experiences and attitude of participants of colorectal screening pilot program.

Methods: The colon cancer screening pilot programme was carried out in 2015 involving an average-risk population aged 50-69 in Csongrád county, Hungary (invited 22 130 persons). The screening method was iFOBT, the attendance rate was 51.2%. Overall, 5580 patients out of the 10374 participants completed the self-compiled questionnaire concerning socio-demographic data, current screening programs, stool sampling problems, invitation letters, information sources and future willingness of participation.

Results: The response rate was 53%. 46.7% of the respondents had not heard about colorectal screening prior to the screening program. Participants with elementary education level mostly indicated physicians as primary information sources [OR: 2.72 (CI: 1.59-4.66)] than patients higher education level. 67.5% of patients decided alone about participation on screening. Among women, decisions supported by acquaintances were specific [OR: 2.05 (1.06-3.95]. 82.6% determined the iFOB test as an entirely accepted screening method. Medical advice is an important predictor of screening participation. If respondents were to receive an invitation after two years, 91.5% would be involved in the screening.

Conclusion: The respondents were satisfied with the screening program. Awareness raising of men, lower educated patients, those living in major cities, and recommendation of the family physician may increase the participation rate in the future.

 Background: There is a substantial gap in the eating behaviors between the sexes. We aimed to analyze the predictors of eating behaviors by sex in the young adult population.

Methods: We used the data of the sixth and seventh Korea National Health and Nutrition Examination Survey conducted by the Korea Disease Control and Prevention Agency last 2013–2018. Data from 2,502 women and 2,101 men aged 19–29 yr were included in the analysis using frequency, percentage, x²-test, and multiple logistic regression.

Results: Education (0.612, CI=0.465~0.805), economic status (2.104, CI=1.435-3.086), marital status (3.162, CI=2.356~4.243), and household structure (0.403, CI=0.208~0.782) were identified to predict the frequency of dining-out in women, while marital status (0.302, CI=0.121~0.749), economic activity (1.969, CI=1.483~2.613), and household structure (0.243, CI=0.137~0.432) predicted dining-out frequency in men. The current smoking status predicted most eating behaviors, including breakfast skipping frequency (1.864, CI=1.318~2.637), use of supplements (2.062, CI=1.439~2.953), and use of nutrition labels (1.545, 1.084~2.204) for men. Meanwhile, nutrition labeling was used less in both men (0.550, CI=0.343~0.882) and women (0.646, CI=0.473~0.882) who subjective body recognition as obesity.

Conclusion: The factors that primarily predicted the frequency of dining out in young women and the behavior of breakfast skipping, use of nutrition labels, and frequency of dining-out in men can be used as foundational data for developing sex-specific intervention programs to improve eating behaviors.

Background: The adeABC efflux pump has a crucial role in the resistance of Acinetobacter baumannii strains to antimicrobial agents; it is encoded by adeABC, adeR, adeS genes. We evaluated antibiotic resistance, efflux pump genes, clonal relationships, and analyzed a probable correlation that can exist between antibiotic resistance and the aforementioned genes.

Methods: We conducted this study on 27 food-originated and 50 human clinical Acinetobacter spp. in Southern Türkiye. MALDI-TOF system and disc diffusion/agar dilution (colistin) methods were used for the identification and antibiotic susceptibility. The efflux pump genes and genetic relatedness of the two groups were investigated by (PCR) and (PFGE) methods.

Results: Foodborne A. dijkshoorniae strain was multidrug- resistant (MDR), and none of them resistant to colistin. Most of the clinical isolates (92%) were Extensive-Drug Resistant (XDR); highest resistant to ceftazidime, piperacillin-tazobactam, and imipenem (47, 94%), and were lowest to colistin (7, 14%), respectively. adeABC, and adeR, adeS genes were (23, 85.2%), (9, 33.3%), (27, 100%) and (10, 37.3%), (18, 66.7%) in foodborne strains respectively. These rates were (43, 86%), (48, 96%), (50, 100%), and (34, 68%), (48, 96.7%) in clinical strains respectively. A positive correlation existed between adeA gene positivity and piperacillin-tazobactam, ceftazidime, gentamycin, imipenem (P=0.048), amikacin (P=0.007) and trimethoprim-sulfamethoxazole (P=0.029) resistance in clinical strains. A positive correlation of trimethoprim-sulfamethoxazole resistance and adeS gene positivity was seen in foodborne strains (P=0.018).

Conclusion: Multiple-efflux pump genes rise in parallel to multidrug-resistance in clinical isolates, while susceptible to diverse antibiotics; food may be a potential provenance for the dissemination of adeABC, adeR and adeS genes.

Background: We aimed to investigate the effects of aerobic-anaerobic exercise on social avoidance, positive and negative emotions, and self-awareness in obese women as well as provide some basis for guiding them to increase their physical exercise and promote physical and mental health.

Methods: Sixty obese women (body mass index≥23 kg/m²) who volunteered to participate in the experiment were selected in Tianjin, China in 2022, and divided into control group and observation group with 30 people in each group. The control group received normal physical training, whereas the observation group received a uniform diet and an aerobic-anaerobic exercise intervention based on normal physical training that lasted for 12 weeks. The changes in the two groups before and after the intervention were compared.

Results: After intervention, the body fat rate and fat weight of obese women in the observation group were significantly decreased, the lean body weight and muscle weight were significantly increased, and the improvement of body composition index was better than those in the control group was (P<0.05). The obese women in the observation group showed lower scores in negative affect and higher scores in positive affect (P<0.05). The obese women in the observation group showed higher scores in comfort, health assessment, satisfaction of body parts, overweight, gregariousness, anxiety, physical appearance and properties, intelligence, school situation, and behavior, while the observation group received lower scores in social avoidance and social distress.

Conclusion: Aerobic-anaerobic exercise has a better role in strengthening the physical exercise and physical and mental development of obese women.

Background: Osteosarcoma is the most common primary malignant tumor of bone. Abnormal expression of S100A1 protein is closely related to the occurrence and development of malignant tumors. However, S100A1 in osteosarcoma has not been studied.

Methods: All osteosarcoma tissues were collected from patients who received surgical therapy at the Affiliated Hospital of Inner Mongolia Medical University, China in 2020. QRT-PCR and western blot assays were used to detect the expression of S100A1 in osteosarcoma tissues and cells. The negative effect of S100A1 on osteosarcoma cell growth was confirmed by vitro and vivo experiments.

Results: S100A1 inhibited the growth of osteosarcoma cells in vitro. Overexpression of S100A1 may inhibit the proliferation of osteosarcoma cells by preventing the activation of AKT signaling pathway by western blot assay. Finally, animal experiments confirmed that overexpression of S100A1 could inhibit the proliferation of osteosarcoma cells. Overexpression of S100A1 obtained better survival benefit in mice.

Conclusion: Our findings provided a new insight to the treatment of osteosarcoma. It also raised the possibility that S100A1 could be used in targeted therapies for osteosarcoma.

Background: Listeria monocytogenes is a gram positive, facultative intracellular bacteria and it is a causative agent of listeriosis. Abortion is one the most important side effect of listeriosis. Nano chitosan is widely used as nanomaterials considered due to its characteristics such as bactericidal and nontoxicity activity. The aim of this study was isolation of L. monocytogenes bacteria from pregnant women vaginal samples and evaluation of chitosan nanoparticles effects against them.

Methods: Overall, 100 vaginal specimens were collected from pregnant women with and without a history of abortion referred to Tehran's Hospitals from Sep 2019 to Jul 2020 with questionnaires. Then, using biochemical methods, L. monocytogenes bacteria were isolated and identified. Isolated L. monocytogenes strains were confirmed using PCR and evaluation of prfA gene, which is the main gene for identification of this bacterium. The effect of chitosan nanoparticles was evaluated in comparison with the antibiotics used based CSLI guideline on isolated bacteria by well diffusion method. MIC and MBC were determined for nanoparticle at the end.

Results: Five strains of L. monocytogenes that were confirmed by PCR method. Moreover, a statistically significant relationship was observed between the isolated strains and the samples taken from women with a history of abortion. MIC and MBC for L. monocytogenes ATCC 7644 were 156.25 and 312.5 μg/ml and for 5 isolated strains were 78.12 and 158.25 μg/ml, respectively.

Conclusion: L. monocytogenes could be a causative agent of abortion in pregnant women. Concerning the results, Nano chitosan has acceptable antibacterial activity against L. monocytogenes.

Background: Brucellosis is one of the most important zoonotic diseases that impose a serious public health burden on some countries in the world. Annually, the WHO reports more than 500000 new cases of human brucellosis. The disease is endemic in most parts of Iran; especially, in areas where people live in close contact with infected animals. According to data from the Iranian Ministry of Health, the average incidence of brucellosis in Iran was 22 cases per 100000 population, with a decreasing trend of surveillance.

Methods: This cross-sectional survey was carried out within 2011-2020 in all provinces of Iran and from patients with clinical symptoms.

Results: During the last decade, a total of 173526 cases were reported from different provinces of Iran, with a higher frequency of occurrence in males (58.2%) living in rural areas (77%), as compared to those in urban areas (23%). Moreover, brucellosis was more common in the summer season (June) and most of the cases were via contact with infected livestock (91%) and consumption of unpasteurized dairy products (78% in rural areas and 76% in the urban areas).

Conclusion: The failure to effectively control brucellosis may be attributed to lack of knowledge about the disease, consumption of unpasteurized dairy and raw meat, lack of proper and safe vaccines for prevention and eradication programs, lack of rapid detection systems, and ineffective methods of isolating infected animals. Therefore, education and advancement of people’s knowledge are key to the prevention and control of the disease

Background: Occupational accidents made injuries in different parts of the body; two important parts of them are head and neck. We aimed to identify the risk factors of work-related head and neck injuries with using of a nationwide occupational accident data.

Methods: This analytical cross-sectional study was conducted on the nationwide data that was gathered in 2013-2018. The target population was industrialized and non-industrialized adults, aged 18 yr or older. Dependent variable was the head and neck injuries. The independent variables were included, age, sex, education level, work experience, job, shift work, injury cause, referred center, season, accident day, accident time, and action after accident. Univariate logistic regression analyses and subsequently, a multivariate logistic regression model was used for analysis.

Results: Out of the 17066 injured workers, 4072 (23.86%) subjects had head and neck injuries. The results of multivariate logistic regressions model showed, age ranges 30-39 (OR = 1.218; 95% CI: 1.036,1.433; P= 0.017), 40-49 (OR = 1.313; 95% CI: 1.044,1.652; P= 0.020), and >= 60 (OR=1.620; 95%CI: 1.028,2.553; P=0.038) and having male sex (OR = 1.657; 95% CI: 1.075,2.555; P= 0.022) were final work-related risk factors of head and neck injuries in Iran. Also winter season (OR = 1.212; 95% CI: 1.00,1.469; P= 0.050) could increase the head and neck injuries odds.

Conclusion: Older workers in Iran are more vulnerable against the occupational head and neck injuries. Moreover, having male sex was other risk factor of the head and neck injuries.

Background: A significant part of deaths related to breast cancer is the result of invasion to other organs. It is essential to discover new non-invasive biomarkers to improve anticipation of recurrence risk in breast cancer patients. In this study, the plasma levels of miR-129 and miR-203a were evaluated to investigate their diagnostic potential in breast cancer and its metastasis.

Methods: In this case-control study, conducted in Tarbiat Modares University, Tehran, Iran, in 2019, Invasive Ductal Carcinoma blood samples were divided into 3 groups based on their stages as I, II/III, IV. Each group contained 30 individuals. We also recruited 30 normal individuals as a control group. Real-Time PCR was conducted to evaluate miR-129 and miR-203a expression levels. The discriminatory ability of the evaluated plasma miRNAs was assessed by ROC (Receiver Operating Characteristic) curves in breast cancer diagnosis and its metastasis.

Results: MiR-129 and miR-203a expression levels were significantly downregulated in breast cancer. Reducing tendency was observed in the mentioned miRNAs from less to more invasive stages. The expression level of miR-129 was decreased in metastatic than non-metastatic patients and it was significantly related to metastasis. A significant association between miR-129 expression level and lymph node status was also observed (P=0.04). Evaluation of ROC curves revealed that miR-129 and miR-203a were able to discriminate breast cancer fairly and poorly respectively. The ability of miR-129 in the diagnosis of breast cancer metastasis was poor.

Conclusion: MiR-129 and miR-203a may both act as tumor suppressor miRNAs. Our results need further evidence in a large population to be confirmed as diagnostic markers. 

We discuss the involvement of nuclear genetic variants correlating to observed phenotype in this case study. In January 2020, the 19-year-old boy from Nantong, Jiangsu Province, China with epilepsy symptom was identified to have myelin loss in the motor and sensory nerves in the electromyogram examination. Brain magnetic resonance imaging (MRI) demonstrated high-intensity areas of small multifocal gray matter regions in the bilateral temporal, parietal, and occipital lobes. In the serum of the patient, the levels of lactate dehydrogenase (LDH) and lactic acid were higher than the normal range values in multiple tests. By subsequent whole exome sequencing (WES) including analysis of the mitochondrial genome, the patient was revealed to carry an m.3243A>G mutation in mitochondria MTTL1 gene which was confirmed by direct Sanger sequencing analysis. Thus, disease of the patient was diagnosed as mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome. According to WES analysis, the patient also carried multiple homozygous variants, which correlating to myelinloss and epilepsy in nuclear genes. The peripheral neuropathy of the patient carrying single mitochondrial m.3243A>G mutation could be caused by multiple nuclear DNA defect.

Mulibrey Nanism is a rare multisystem disorder inherited in an autosomal recessive manner caused by mutations in the TRIM37 gene. Most of the reported cases are from Finland, but this condition has rarely occurred in other countries. Although the clinical diagnosis of Mulibrey nanism is a challenge during the first months of life, the disease can be suspected clinically due to the distinctive features of the patients.  A 4-year-old female with pneumonia, cardiomyopathy, growth retardation, peripheral edema, and characteristic craniofacial features was referred to Tehran Hope Generation Foundation Genetic diagnosis Center, in October 2021. Genomic DNA was isolated from peripheral blood samples of the patient and her parents and Whole exome sequencing was performed for the patient. Whole exome sequencing revealed a homozygous G>A splice site variant (TRIM37; c.370-1G>A). Sanger sequencing confirmed the segregation of the variant with phenotype in this family. Whole exome sequencing can be helpful in the diagnosis of the patients suspecting to Mulibrey nanism and lacking sufficient clinical presentation according to the diagnostic algorithm.

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