2020 Impact Factor: 1.429
2020 CiteScore: 2.1
Chairman & Editor-in-Chief:
Dariush D. Farhud, MD, Ph.D., MG.
Vol 50 No 6 (2021)
Background: The number of elderly and the burden of non-communicable diseases increase with time. Community involvement is expected to be an important prevention agent for their neighbors. This study aimed to determine the effectiveness of health services delivered by community health workers (CHWs) which focus on physiological indices related to non-communicable diseases among elderly people and to explain the health services or interventions carried out by CHWs.
Methods: This systematic review was conducted based on the PRISMA guidelines. PubMed, ProQuest Science Database, Scopus, EBSCOhost CINAHL, and Web of Science were taken as the source of databases. Manual search was also conducted for articles published before March 2019 without time restriction. The quality of each study was assessed using Critical Checklist by Joanna Briggs Institute.
Results: Of the 3,275 initial studies retrieved, 4 studies were included in qualitative synthesis analysis. Three studies arranged a face-to-face interview, while the other study was conducted over the phone. All the 4 studies were intervention studies. Three of them showed a significant improvement in mean systolic blood pressure for the intervention group compared to the control group. The other study showed a significant improvement in weight loss for the intervention group.
Conclusion: Health services delivered by CHWs was beneficial to elderly people in rural areas on some physiological indices. It suggested that health services delivered CHWs could contribute toward secondary prevention programs.
Background: The efficacy of graded emergency nursing on acute pancreatitis (AP) patients was evaluated by the Meta-analysis system.
Methods: The databases of CNKI, WanFang, VIP, PubMed, the Cochrane Library and Web of Science were searched by computer in January 2021. The references were screened according to the inclusion and exclusion criteria. The data were extracted and the quality of those references was evaluated. Meta-analysis was made by RevMan 5.4 software, publication bias was detected by funnel chart, and sensitivity analysis was carried out.
Results: Thirteen papers were included, including 11 waiting time indexes, 7 disease judgment accuracy indexes, 13 rescue success rate indexes and 5 patient satisfaction rate indexes. Meta-analysis showed that compared with conventional emergency nursing methods, graded emergency nursing methods had shorter waiting time (MD=-11.97, 95%CI (-15.74, -8.21), P<0.00001), higher accuracy in judging illness (OR=6.6, 95%CI (3.13, 13,93), P<0.00001) and rescue success rate (OR=7.12，95%CI (4.16, 12.20), P<0.00001), and patients’ satisfaction was higher (OR=8.79, 95%CI (3.59, 21.56), P<0.00001).
Conclusion: Graded emergency nursing can optimize the allocation of emergency resources, effectively shorten the waiting time of AP patients. It also improves the accuracy of disease judgment, the success rate of rescue and the satisfaction of patients. It is an efficient emergency nursing method and is worthy of clinical application.
Background: We aimed to review relevant randomized controlled trials to assess the relative clinical effects of antibiotic treatment of patients with community-acquired pneumonia (CAP).
Methods: In this meta-analysis, we identified relevant studies from PubMed, Cochrane, and Embase using appropriate keywords. Key pertinent sources in the literature were also reviewed and all articles published through Oct 2019 were considered for inclusion. For each study, we assessed the risk ratios (RRs) or mean difference combined with the 95% confidence interval (CI) to assess and synthesize outcomes.
Results: Overall, 36 studies were consistent with the meta-analysis, involving 17,076 patients. There was no significant difference in the mortality after subgroup analysis: individualized treatment vs. standard treatment; β-lactams plus macrolides vs. β-lactam and/or fluoroquinolone; ceftaroline fosamil vs. ceftriaxone; combination therapy vs. monotherapy or high-dose vs. low-dose. The drug-related adverse event incidence was significantly higher in the ceftriaxone group than in the other drug groups (P<0.05) and also higher in the tigecyline group than in the levofloxacin group (P<0.05). Compared with ceftriaxone, ceftaroline fosamil significantly increased the clinical cure rate at the test-of-cure (TOC) visit in the clinically evaluable population, modified intent-to-treat efficacy (MITTE) population, microbiologically evaluable (ME) population and the microbiological MITTE (mMITTE) population (all P<0.05). Compared with ceftriaxone, ceftaroline fosamil significantly increased the clinical cure rate at the TOC visit in the mMITTE population of Gram positive-Streptococcus pneumoniae (P<0.05) and multidrug-resistant S. pneumoniae (P<0.05).
Conclusion: There was a limited number of included studies in the subgroup analysis, but it will still be necessary to conduct more high-quality randomized controlled trials to confirm the clinical efficacy of different antibiotics used to treat CAP.
Background: Due to widespread abuse of anabolic-androgenic steroids among professional athletes and amateur sportsmen and their health-related problems, determining the prevalence and the pattern of anabolic-androgenic steroid misuse at the national level seems to be vital for designing efficient preventive and educational measures.
Methods: This systematic review and meta-analysis was conducted via comprehensive searches of the electronic databases including PubMed, MedLine, Scopus, Google Scholar and National Persian Databases including SID, Magiran, IranDoc (between 1980 and Dec 2019 in English and Persian languages) and also from citations in the selected papers. Overall, 39 articles met the criteria and were included in qualitative and quantitative synthesis.
Results: The overall prevalence rate of anabolic-androgenic steroid misuse in the Iranian athletic population was 36.2% (95% confidence interval (CI), 29-43) with significant heterogeneity between studies (I2=99.0%, P<0.001). Prevalence rate of anabolic-androgenic steroid misuse among elite, male and younger athletes was higher (P<0.05). Moreover, prevalence rate of anabolic-androgenic steroid misuse among body-building athletes (36.3%) was higher compared to other athletes (30.9%), (P<0.001).
Conclusion: Due to the higher prevalence of anabolic-androgenic steroids misuse in Iran compared to global statistics and the potential for serious adverse effects, preventive strategies and policies should be regarded as a real concern for public health.
Background: Streptococcus pneumoniae is an important pathogen of children, mostly in developing countries. We aimed to investigate the prevalence of invasive S. pneumoniae among Iranian children using a systematic review and meta-analysis.
Methods: A systematic search was carried out to identify papers published by Iranian authors in the Web of Science, PubMed, Scopus, and Google Scholar electronic databases from January of 2010 to December of 2017. Then, seven publications that met our inclusion criteria were selected for data extraction and analysis.
Results: Totally, one study was multicenter, and six were single-center based studies. Meanwhile, all of the included studied performed among hospitalized patients. Seven studies reported the prevalence of invasive S. pneumoniae isolated from children, of these the pooled prevalence of S. pneumoniae was 2.5% (95% CI: 0.7%-9.1%).
Conclusion: The overall prevalence of invasive S. pneumoniae infections among Iranian children is low (2.5%). However, further clinical studies are required to elucidate the burden of infections among Iranian children, especially in eastern regions.
Background: Patients with non-communicable diseases are vulnerable to disasters. This is a systematic review describing the impact of disasters on non-communicable diseases.
Methods: A systematic review was conducted using PRISMA standards. Relevant articles published from 1997 to 2019 collected by searching the Scopus, PubMed, Science Direct, databases. We specifically examined reports describing NCDs and including the key words “non-communicable disease and Disasters”. NCDs included cardiovascular, respiratory, diabetes, cancer and mental health diseases.
Results: Of the 663 studies identified, only 48 articles met all the eligibility criteria. Most studies have shown the impact of all natural disasters on non-communicable diseases (39.8% n=19). The largest study was the effect of earthquakes on non-communicable diseases (29.2% n=14). For the NCDs targeted by this research, most of the included studies were a combination of four diseases: cardiovascular disease, respiratory disease, diabetes and cancer (44% n=21). Followed by cardiovascular disease (14.6% n=7), chronic respiratory disease (12.5% n=6), diabetes and cancer (6.2% n=3) and mental health (12.5% n=6).
Conclusion: The incidence of disasters affects the management of treatment and care for patients with NCDs. Specific measures include a multi-part approach to ensuring that patients with non-communicable diseases have access to life-saving services during and after disasters. The approach of the health system should be expanded from traditional approaches to disasters and requires comprehensive planning of health care by policy makers and health professionals to develop effective strategies to enable patients to access medical, therapeutic and diagnostic services in natural disasters.
Background: Temporary marriage (TM) is legitimate sexual relations without social, moral approval, which can be a threat to individuals’ health, it is a risk factor for spread of Sexual Transmitted Infections (STIs). Therefore, it is necessary to identify and control STIs in TM-individuals and subsequent save of "society health". In this meat-analysis, we examined the prevalence of STIs in TM in Iran. We further examined un-protected sex among TM-individuals.
Method: Up to Feb 2020, we searched international and national electronic databases identify to published studies on the prevalence of STIs in TM. We estimated the prevalence of STIs in TM using a random-effect pooled estimate analysis approach.
Results: Totally, we retrieved 1616 studies from the previously mentioned databases, of which, 18 met the eligibility criteria, published from 1995 to 2020 in different provinces. The total sample size of the included studied contained 2056 TM-individuals, of which 368 were found with STIs and 955 with unprotected sex. The pooled prevalence of STIs and unprotected sex among TM women was 39% (95%CI: 24% to 54%), 55% (95%CI: 40% to 70%)
Conclusion: STI and unprotected sex are high among TM-individuals which call an urgent need for community and health care providers to provide especially designed medical and psycho-social supportive care services in a safe and unprejudiced environment for TM-individuals. Furthermore, untrained health care providers for TM-individuals, under reporting, social stigma should be taken in to account. Denying the presence of such realities, does not eradicate the facts but results in catastrophic public health problems.
Background: The present study aimed to provide an empirical theoretical basis for the psychological phenomena that occur among competing athletes. To this end, we utilized the actor and partner interdependence model (APIM) to analyze the self- and relative effects of competitive state anxiety on perceived performance in middle and high school Taekwondo athletes.
Methods: Data were analyzed for 372 middle and high school athletes (red group=186, blue group=186) who participated in the first round of the 2020 Korea Taekwondo Association National Taekwondo Competition. Analysis based on the APIM was applied to the collected data, and a path analysis was conducted to verify the self- and relative effects of competitive state anxiety on perceived performance.
Results: Cognitive (red: P<0.01, blue: P<0.001) and physical state anxiety (red: P<0.01, blue: P<0.01) exerted a significant negative self-effect on perceived performance in both groups. In contrast, state confidence (red: P<0.001, blue: P<0.001) exerted a significant positive self-effect on perceived performance. Furthermore, cognitive (red: P<0.001, blue: P<0.01) and physical state anxiety (red: P<0.001, blue: P<0.001) exerted a significant positive relative effect on the opponent’s perceived performance in both groups, while state confidence (red: P<0.01, blue: P<0.001) exerted a significant negative relative effect on the opponent’s perceived performance.
Conclusion: Sports psychologists should focus on developing a psychological training program that provides practical psychological support as well as self-regulatory and relative strategies for improving athletic performance in competitive scenarios.
Background: To evaluate the independent and collective effects of maternal iron supplementation and dietary iron intake upon the risk of moderate preterm birth and its subtypes.
Methods: In this birth cohort study, 1019 pregnant women with moderate preterm birth and 9160 women with term birth were recruited at Gansu Provincial Maternity and Child Care Hospital from 2010-2012 in China. Unconditional logistic regression models were utilized to evaluate the association between maternal iron supplementation, dietary iron intake, and the risk of moderate preterm birth and its subtypes.
Results: Compared with non-users, iron supplement users exerted a protective effect upon the overall (OR=0.54, 95%CI=0.40-0.72) and spontaneous moderate preterm birth (OR=0.39, 95%CI=0.33-0.83). Compared with the 25th quartiles of dietary iron intake, either before or during pregnancy, it exerted a signiﬁcantly protective effect upon those who had the highest quartiles of dietary iron intake (OR=0.87, 95%CI=0.82-0.95 for the highest quartiles of dietary iron intake before pregnancy OR=0.85, 95%CI=0.79-0.91). Positive association was observed between the additive scale and multiplicative scale for preterm birth, spontaneous preterm rather than medically indicated preterm.
Conclusion: Iron supplements (60 mg/day) and high-iron intake (>25.86 mg/day before pregnancy, >30.46 mg/day during pregnancy) reduced the risk of moderate preterm birth. Positive correlation is found between the additive scale and multiplicative scale for preterm birth, spontaneous preterm birth.
Background: Considering the gap between organ donors and receivers, it can be assumed that family physicians may play an important role in organ donation. Thus, we aimed to investigate the family physicians’ approaches to organ donation in Turkey.
Methods: In this cross-sectional study, an online survey was sent to all family physicians working in Family Health Centers in Turkey Between Jul – Sep 2018. The survey questioned the knowledge, approaches, and opinions about organ donation issues, besides the socio-demographic characteristics.
Results: Most physicians stated that they had given information to their patients on this subject at least occasionally (59.19%, n=998). Among participants, the most common reason for refusing consent for organ donation was the fear of commercial abuse (19.66%, n=244). Most participants (52.61%, n=887) stated that they had been positively affected by the media about organ donation. Some physicians were uncertain about the reliability of the brain death diagnosis (18.39%, n=310). A minor group stated that organ donation might be religiously inappropriate (10.50%, n=177).
Conclusion: Although most of the family physicians had a positive manner about organ donation, there was still some wrong knowledge of the participants about legal and medical aspects of organ donation, as well as some other concerns like organ trafficking and reliability of brain death diagnoses, whereas religious concerns were not significant.
Background: This study was designed to explore the levels of serum moleculartumor markers carbohydrate antigen 125 (CA125), human epididymis protein 4 (HE4), and carcinoembryonic antigen (CEA) in patients with primary epithelial ovarian cancer, and their correlation with the progression of the cancer.
Methods: A total of 222 people were enrolled in this study admitted to Jining Maternal and Child Health and Family Planning Service Center from January 2016 to December 2017. There were 122 patients with primary epithelial ovarian cancer (ovarian cancer group), 50 patients with benign ovarian diseases (benign control group), and 50 healthy individuals (normal control group). The levels of serum CA125, CEA, and HE4 were detected by the electrochemical luminescence method and ELISA.
Results: The levels of serum CA125, HE4, and CEA in the ovarian cancer group were significantly higher than those in patients with the benign control group and the normal control group (P<0.01). The levels of serum CA125, HE4, and CEA in the high clinical staging group (stage III and stage II), low differentiation group, comorbid ascites group, metastasis group, and recurrence group were significantly higher than those in the low clinical staging group (stage I and stage II), high + moderate differentiation group, non-ascites group, non-metastasis group, and non-recurrence group, respectively (all P<0.05), and the levels of serum CA125, HE4, and CEA decreased significantly after treatment (P<0.01).
Conclusion: The levels of serum CA125, HE4, and CEA are closely related to the development and progression of epithelial ovarian cancer, and combined detection of CA125, HE4 and CEA is of great significance for early diagnosis, disease development monitoring, and prognosis evaluation of epithelial ovarian cancer.
Background: Diabetes mellitus (DM) and chronic kidney disease (CKD) are global growing health problems. Since DM is the major cause for CKD etiology, its development can be prevented with simple measures, like achievements of glycemic, lipid and blood pressure targets. This study aimed to evaluate whether the treatment goals for CKD patients with DM are achieved under the Kidney Disease Outcomes Quality Initiative (KDOQI) guideline.
Methods: Overall, 160 CKD patients with DM were enrolled in the study performed in Usak, Turkey from Jan 2016 to Jan 2018. Compatibility with treatment goals defined in KDOQI 2012 guideline for HbA1c levels, hypertension and dyslipidemia were evaluated retrospectively.
Results: Of 160 CKD patients [15 (9.4%) in stage 3a, 53 (33.1%) stage 3b, 51 (31.9%) stage 4 and 41 (25.6%) stage 5], 23 patients in stage 5 were on hemodialysis. Total compliance rate to hyperglycemia treatment was 94 of 160 patients (58.8%). Compatibility rates between different stages of CKD were similar. Hypertension was detected only in 134 patients. Sixty-six (49.3%) patients were compatible with the treatment goals, and as the CKD stages progressed, the rate of patients achieving hypertension treatment goals was declined (P=0.001). One-hundred and thirty-seven patients were not on hemodialysis and fifty-four (39.9%) of 137 patients achieved dyslipidemia goal. There was no difference between different stages of CKD.
Conclusion: Under KDOQI 2012 guideline, treatment goal for hyperglycemia was better achieved than the treatment goals for hypertension and dyslipidemia. In CKD patients with DM the physicians should be also focused on the treatment of hypertension and dyslipidemia.
Background: We aimed to investigate the relationships among self-management, self-resilience, and adaptability to college life in Chinese and Korean students majoring in physical education. In addition, we explored the mediating role of self-resilience in the relationship between self-management and adaptability to college life.
Methods: Random sampling was used to identify participants majoring in physical education at five colleges and universities in Shaanxi (China) and four universities in Kyonggi-do Province (Republic of Korea) in June 2020. We analyzed data for 700 students via exploratory factor analysis, confirmatory factor analysis, correlation analysis, structural equation model analysis, and path analysis.
Results: Self-management had a significant impact on self-resilience (P<0.001), while self-resilience had a significant impact on adaptability to college life (P<0.001). Among self-management variables, body management had a significant negative impact on adaptability to college life (P<0.001). Self-resilience had a mediating effect on the relationship between self-management and adaptability to college life (P=0.024).
Conclusion: Our findings highlight the need to develop systems that cultivate students’ abilities to integrate into university life, including their abilities to face unsatisfactory studies, manage spare time, make physical adjustments, adapt to new living environments, and maintain interpersonal relationships. Strengthening self-management abilities will lead to improvements in self-resilience, adaptability, and satisfaction with university life among physical education majors.
Background: Shoulder, neck, and back discomforts and abdominal obesity caused by sedentariness are increasingly prominent in young and middle-aged population groups. Health Qigong improves physical functions and strengthens the disease resistance of exercisers. This study aims to explore health Qigong intervention’s effects on the cervical vertebra, lumbar vertebra, and mental status.
Methods: A total of 108 sedentary young and middle-aged faculties from Yantai University in China were recruited from July to December 2020 and randomly classified into the experimental and control groups. The former received health Qigong exercises for 12 weeks, and the latter was not intervened. The total general skeletal muscle mass, range of neck joint motion, mental health, and range of waist joint motion of all respondents before and after the intervention were tested and calculated.
Results: The body fat rate of the experimental group after intervention was significantly lower than that before intervention (P<0.05). The skeletal muscle mass (SMM) value was significantly higher than that before intervention. The experimental group had lower body fat rate but higher SMM value than the control group after the intervention. In addition, the range of motion (ROM) of the cervical vertebra was significantly higher in the experimental group than in the control group after intervention. Somatization, obsessive/compulsive disorder, interpersonal sensitivity, depression, anxiety, hostility, paranoia, and SCL-90 total score of the experimental group after intervention decreased significantly compared with that before intervention (P<0.05).
Conclusion: Health Qigong improves the ROM of cervical and lumbar vertebrae and the mental health status of sedentary young and middle-aged groups.
Background: Chinese children are poorer in sports activity as compared to foreign children and their prospects as to physical fitness are not optimistic. This study aimed to discuss the effects of diversified sports activity modules on physical fitness and mental health of preschoolers ages 4–5 years.
Methods: Sixty preschoolers aged 4–5-yr-old from two kindergartens in Jiaxing of China were selected randomly during Mar-Oct 2019. These respondents were divided into the experimental group (n=30) and the control group (n=30). The experimental group implemented the diversified sports activity module for 16 wk successively, 5 d per week, and 30-45 min per day. The control group adopted conventional sports activity. The body shape, physical fitness, and mental health of the two groups were measured and compared.
Results: For body shape, the height of the experimental group increased is significantly higher than that of the control group. The experimental and control groups show no significant differences in body weight. For physical fitness, the experimental group is significantly superior to the control group in testing results of standing long jump, double-feet continuous jump, balancing on one foot, tennis shot, sit-and-reach, and 10 m repeated run. For mental health, the testing results of action development, language development, and social development of the experimental group are significantly better than those of the control group.
Conclusion: The diversified sports activity module is not only conducive to strengthening the physical fitness of 4–5-year-old preschoolers but also improves their mental health.
Background: We aimed to explore the diagnostic values of miR-221-3p in serum and cerebrospinal fluid (CSF) for post-stroke depression (PSD) and to analyze the risk factors of the disease.
Methods: Admitted to the Second Affiliated Hospital of Harbin Medical University, Harbin, China from May 2013 to May 2020, 136 stroke patients were enrolled, among which 76 PSD patients were taken as a PSD group and 60 non-depressed patients were taken as a Non-PSD group. miR-221-3p expression in serum and CSF and concentrations of inflammatory cytokines (IL-6, TNF-α) in serum were detected, to analyze the diagnostic and prognostic values of the indicators for PSD. Correlations of miR-221-3p in serum with that in CSF, with the National Institute of Health Stroke Scale (NIHSS) score and the Hamilton Depression Rating Scale (HAMD) score, and with inflammatory cytokines were analyzed, so as to analyze the risk factors affecting the occurrence of PSD.
Results: Compared with the Non-PSD group, miR-221-3p remarkably upregulated in serum and CSF in the PSD group, and its areas under the curves (AUCs) for PSD identification were 0.900 and 0.925, respectively. According to the correlation analysis, miR-221-3p in serum was remarkably positively correlated with that in CSF, NIHSS score, HAMD score, IL-6 and TNF-α. In addition, a history of mental illness, NIHSS score, HAMD score, IL-6, TNF-α and miR-221-3p were risk factors of PSD.
Conclusion: miR-221-3p in serum and CSF can be used as the diagnostic and risk warning indicators of PSD.
Background: The current national growth and development standard of preschool children in China was formulated in 2003, which has many deficiencies. It is necessary to construct more scientific percentile curve and growth reference standards in order to evaluate more effectively the growth, development and health status of Chinese children.
Methods: Based on the physical and health data of 31 provinces in China measured in 2010 and 2014, the GAMLSS model was used to construct the growth reference standard and correlation curve.
Results: We obtained growth reference standards for percentile curve and Z-score curve of height-for-age, sitting height-for-age, Weight-for-age, Chest circumference-for-age of Chinese preschool children. The C50 percentile of all indicators showed an obvious increasing trend with aged 3.0 to 6.5. Such as, the height of boys and girls increased by 21.1cm and 20.3cm respectively, the sitting height boys and girls increased by 10.3cm and 10.1cm respectively, the weight of boys and girls increased by 7.1 kg and 6.3 kg respectively, the Chest circumference of boys and girls increased by 6cm and 5.2 cm respectively.
Conclusion: The children's growth and development charts provided in this study provide effective monitoring and personalized evaluation tools for the growth and development assessment of preschool children, as well as for the reduction of malnutrition, prevention and control of childhood obesity. It is recommended to be used in some areas such as child health, medical treatment and public health.
Background: Peer based evaluation is a qualitative assessment done in different fields and levels. The aim of this study was to express the results of peer review evaluation in selected Iranian clinical research centers.
Methods: Four main domains consist of Leadership and governance, Structure, Knowledge products and Impact in thirty Iranian clinical research centers were evaluated based on peer review in 2019. Strengths and weak points with peer`s suggestions were extracted based on qualitative analysis.
Results: Governance and impact domains have been more weak points than others. Equipment, facilities, physical space and human resource have been desirable in many research centers, and also there were some good developments in research publication. The most important suggestion was pay more attention to technology in planning, infra-structure and impact levels.
Conclusion: Review missions of clinical research centers with more emphasis on health impact is necessary to clinical improvement.
Background: We aimed to assess prevalence and predictors of pre-existing hypertension in pregnant women in three districts of Northern region, Ghana.
Methods: This cross-sectional study was conducted among 1626 women in the third trimester of pregnancy across four antenatal centers in 2018. A questionnaire was used to collect medical information including weight and height. We used descriptive statistics to characterize all qualitative variables and performed logistic regression analyses to estimate association of hypertension and other risk factors.
Results: We included 1626 women; mean age standard deviation (SD) of pregnant women was 27.4 (5.1) years. About 4.5% (95% confidence interval [CI]: 3.6-5.7) of pregnant women reported they had earlier been diagnosed of having hypertension by a doctor or midwife, before pregnancy. Obese pregnant women had 2.9 times increased adjusted odds of having hypertension relative to non-obese pregnant women (Odds Ratio (OR))=2.9, 95% [CI]: 1.39-5.85, P=0.004). Further, gestational diabetes was a predictor of pre-existing hypertension at an increased odds of 4.9 times relative to those without gestational diabetes (OR= 4.9, CI: 0.92-26.75, P=0.061). Women with two or more children had 3.2 times the adjusted odds of having hypertension (OR=3.2 CI: 1.59-6.69, P=0.001).
Conclusion: Although the prevalence pre-existing hypertension was not too high, obesity, gestational diabetes and number of children were independent predictors of pre-existing hypertension in pregnant women.
Alopecia universalis (AU) congenital, known as generalized atrichia, is a severe form of autosomal recessive alopecia that results in complete hair loss of scalp and body. Mutations in the human hairless gene (HR) are associated with the phenotype of the disease. A consanguineous couple who had a child with the generalized atrichia sign referred to us for genetic counseling. According to the patient's symptoms and after thorough examination and history taking, the HR gene was the candidate gene to be assessed and analyzed. For this purpose targeted primers were designed for all exons of the HR gene followed by running PCR for exons amplification. Finally, the PCR products were sequenced. Whole-gene sequence analysis revealed a nonsense homozygous mutation in exon 6 that, according to the ACMG guide, is a pathogenic variant. Sequence analysis of the exon in parents reveals that they are heterozygout for the non-sense mutation, as well.
|All the work in this journal are licensed under a Creative Commons Attribution-NonCommercial 4.0 International License.|