Iranian Journal of Public Health
Volume:47 Issue: 12, Dec 2018

Inconsistencies among studies still exist in regard to the associations between maternal vitamin D deficiency and the risk of small for gestational age. We conducted a meta-analysis of observational studies to evaluate these associations. We searched electronic databases for literature published in PubMed, Medline, Web of Science, Embase and the Cochrane Library up to Dec 2016 using the following keywords: “vitamin D” or “cholecalciferol” or “25-OHD” or “25-hydroxyvitamin D” in combination with “small for gestational age” or “SGA” or “fetal outcome” or “pregnancy outcome”. Twelve studies involving 19,027 participants were included in this meta-analysis. Pregnant women with vitamin D deficiency (25-OHD levels<50 nmol/L) experienced an increased risk of SGA (odds ratio (OR) =1.41, 95% confidence interval (CI): 1.14, 1.75). The vitamin D concentration of the SGA group was lower than that of the non-SGA group (mean difference: -1.75 nmol/L, 95%CI:-3.23, -0.27). Maternal vitamin D deficiency during pregnancy may be associated with an increased risk of SGA.

The inadequate reporting of cross-sectional studies, as in the case of the prevalence of Congenital Anomaly, could cause challenges in the synthesis of new evidence and make possible mistakes in the creation of public policies. This study was conducted to critically appraise the quality of the articles involving congenital anomaly prevalence in Iranian infants with the STROBE recommendations. We performed a thorough literature search using the words "congenital anomaly" "birth defect" and "Iran" in MEDLINE/PubMed, Scopus, SID, Elmnet, Magiran, IranDoc, Iranmedex, and Google Scholar until Aug 2017. In this critical appraisal we focused on cross-sectional studies that reported the prevalence of congenital anomaly in Iranian infants. Data were analyzed using the STROBE score per item and recommendation. The results of 17 selected articles on Congenital Anomaly prevalence showed that the overall accordance of the cross-sectional study reports with STROBE recommendations was about 63%. All articles met the recommendations associated with the report of the study’s rationale, objectives, setting, key results and provision of summary measures. Methods and results were the weakest part of the articles, in which recommendations associated with the participant flowchart and missing data analysis were not reported. The recommendations with the lowest scores were those related to the sensitivity analysis (6%, n=1/17), bias (6%, n=1/17), and funding (41%, n=7/17). Cross-sectional studies about the prevalence of congenital anomaly in Iranian infants have an insufficient reporting on the methods and results parts. We recognized a clear need to increase the quality of such studies.

This study aimed to evaluate the effect of self-care educational/training interventions on gestational diabetes. In this review, we searched the ERIC, Clinical Key, Cochrane, Scopus, PubMed, and ISI databases as well as Iranian databases from 1990 until Jan 2017. Having evaluated 3267 articles by three of the authors, 20 clinical trials with educational/training approach remained for analysis. In this study, CONSORT checklist, JADAD scale and Cochrane handbook were used to evaluate the validity of articles. The quality of 34% of articles was found to be poor due to probability of bias in designing the interventions and the effect of absence of blinding of personnel and participants. However, absence of blinding had a low impact on the results of most studies carried out on objective scales like blood glucose levels, or maternal and neonatal results. Moreover, 66% of studies were assessed to be at a good level of quality. There are few articles with educational/training approach on self-care in gestational diabetes mellitus, but based on the homogeneity of participants and significant results of self-care interventions, especially lifestyle ones, self-care guidelines can be developed for gestational diabetes mellitus.

We aimed to assess susceptibility pattern of Candida species isolated from horticulturists with onychomycosis to four antifungal drugs and to compare the effectiveness of conventional identification methods with matrix-assisted laser desorption/ionization mass spectrometry (MALDI-TOF MS).

This study was conducted in a community garden located in Teresina, State of Piauí, Brazil, in the year 2014. The samples were identified through phenotypic methods and per MALDI-TOF MS, being used PCR as definitive identification test. The susceptibility pattern to four antifungal drugs was determined according to Clinical and Laboratory Standards Institute (CLSI).

Fourteen clinical isolates from seven different species were identified by the phenotypic method and by MALDI-TOF MS, with an observed concordance of 71.4% between the two methods. C. albicans (28.6%), C. parapsilosis (21.4%), C. guilliermondii and C. metapsilosis (both with 14.3%) were the most frequent species. With the exception of C. krusei, all species were sensitive to the tested antifungal.

This is the first study of antifungal susceptibility of Candida in Piauí, Brazil. With the exception of C. krusei, no species showed resistance to the antifungal drugs used. This study suggests constants updates from the public databases used in MALDI-TOF MS to provide a rapid and accurate mycological diagnosis.

Anxiety and depression seriously affect sleep quality and mental health of perimenopausal women. Time management training is of great value in relieving negative emotions and improving subjective well-being. This study aims to explore the effect of time management training on anxiety, depression, and sleep quality of perimenopausal women. From January 2018 to July 2018, 114 women with perimenopausal syndrome were randomly selected in Wuhan, Hubei Province of China as the objects of the experimental group (n=58) and the control group (n=56). The control group did not participate in any training in this study; time management training was conducted in the experimental group according to Getting Things Done, with a total of 12 training sessions over six months with two hours for each interval of two weeks. The effect of the intervention was evaluated before and after the experiment using relevant scales. After the intervention, the Self-Rating Anxiety Scale (SAS) score and Self-Rating Depression Scale (SDS) score of the experimental group are lower than those of the control group (P<0.05). The Pittsburgh Sleep Quality Index (PSQI) score and Time Management Disposition Inventory (TMDI) score of the experimental group are higher than those of the control group (P<0.05). A positive correlation exists between the improvement in time management disposition and the improvement in anxiety, depression, and sleep quality (P<0.001). Time management training has a positive effect on improving anxiety, depression, sleep quality, and time management disposition of perimenopausal women.

Inability to conceive is a major problem during reproductive age. This study aimed to describe medical characteristics and different approaches to get better the management of infertility among women referring to some public and private health centers in Morocco. Overall, 619 infertile women referring to public and private health centers in Marrakech-Safi region were selected by simple random sampling method, between 1 Oct 2013 and 31 Dec 2015. The socio-economic data, demographic characteristics, medical and obstetric variables and types of infertility treatments were simultaneously collected by questionnaire and health record data. The univariate logistic regression analyses were used to determine different infertility treatments. Statistical significance was set at 0.05. The rate of primary and secondary infertility was 67.37%, and 32.63%, respectively. In comparison to secondary infertility, primary infertile women with high socio-economic level and low average age have used many fertility drugs and assisted reproductive technologies (Clomifene citrate (45.01 vs. 29.20%), injectable gonadotropins (09.35 vs. 3.96%), dydrogesterone (35.08 vs. 23.26%), intrauterine insemination (3.83 vs. 0.49%), and in-vitro fertilisation (3.11 vs. 1.48%)). The use of infertility’s treatment is limited in Morocco. Outside of medical coverage, the infertility management requires permanent efforts, financial supports, psychological assistance and serious dialogue between all the stakeholders.

We aimed to investigate the participation of adiponectin in preeclampsia, and to explore the possible mechanism. A total of 52 patients with preeclampsia and 30 normal women with full-term pregnancy were enrolled. Immunohistochemistry was used to detect the localization of MAPK and STAT5. RT-PCR was used to detect the expression of adiponectin mRNA in placental tissue of patients with preeclampsia and normal pregnant women. Western blot was used to detect the expression of adiponectin protein, MAPK, p-MAPK, STAT5 and p-STAT5 in placental tissue of patients with preeclampsia and normal pregnant women. p-p38 was highly expressed in placental trophoblasts of patients with preeclampsia, while p-STAT5 was less expressed. Expression level of p-p38 and p-STAT5 in patients with preeclampsia were significantly different from those in normal pregnant women (P<0.01). Expression level of adiponectin mRNA was significantly lower in patients with preeclampsia than in normal pregnant women (P<0.05). Level of p-p38 expression was negatively correlated with levels of adiponectin expression (r=-0.413, P<0.05). Expression level of p-STAT5 was positively correlated with expression level of adiponectin (r=0.526, P<0.01). Adiponectin participates in preeclampsia by regulating the biological function of placental trophoblasts through p38 MAPK-STAT5 pathway.

The triple therapy including peginterferon, ribavirin and protease inhibitors was more effective compared to the combination of only peginterferon and ribavirin. This study aimed to assess the cost-effectiveness of triple treatment in either treatment-naïve and treatment-experienced patients in Kazakhstan. A Markov model was created to assess long-term clinical advantages and the cost-effectiveness of the triple therapy from Kazakhstan payer perspective. Health state transition probabilities, pharmaceutical and other costs (according to the price in 2015), and utility rate were acquired from the published studies and publicly available sources. All used costs and benefits were discounted at 5% per year. Despite treatment background, the patients, receiving boceprevir and telaprevir, were estimated to experience less serious liver-disease complications, more life-years, and more QALYs compared to the patients having standard of care. For treatment-experienced group, boceprevir and telaprevir were dominant, with more QALYs. For all the groups of patients, incremental costs per QALY gained were between USD14995 and USD18075. The total average cost of boceprevir is slightly more costly than a standard duration of treatment with telaprevir, and so is the average cost per SVR. Extensive sensitivity analyses verified robust model results. The inclusion of protease inhibitors to standard management for the therapy of patients with genotype 1 chronic HCV infection in Kazakhstan is predicted to be cost-effective using a typically applied willingness to pay threshold of USD37805 (3 times GDP per capita).

The aim of this study was to assess the environmental impact-factors differences between female and male HT in the eastern Chinese adolescents. We used a multicenter, cross-sectional study to estimate the prevalence rates and the associated impact-factors of hysteria tendency (HT) in 2014. Totally, 10131 adolescents took part in the study from three School Health Surveillance System centers in three provinces of east China. The data were collected using a common protocol and questionnaire in order to identify common environment affecting in this population. An overall positive rate of HT among the eastern Chinese adolescents was 13.13% (95% CI: 12.48%-13.80%) with 14.01% (95% CI: 13.05%-15.02%) for females and 12.30% (95% CI: 11.43%-13.22%) for males. Gender-stratified regression analyses revealed that 7 out of the 21 tested covariates were linked to HT only in males, while 9 out of the 21 tested covariates were associated with female HT only. Although, the models pointed out that of all independent variables, the variable –family medical history was the strongest environment impact to both the male HT (amOR=2.49, 95% CI=1.77-3.25) and female HT (amOR=2.83, 95% CI=2.19-3.68). HT is prevalent among adolescents in the eastern Chinese adolescents. Environmental factors differences between female and male HT are significant in adolescents, and HT affects more female than male. First, prevention and therapy of HT in adolescents should focus on various social, school and family environment settings, and individual characteristics. Second, gender -respective intervention programs against HT in adolescents should be implemented.

The increasing number of elderly citizens due to changes in the social structure is of national interest. This study aimed to provide basic data for devising policies to promote the quality of life of elderly National Basic Livelihood Security System (NBLSS) beneficiaries in South Korea by identifying the effects of their general characteristics and physical environment on their health-related quality of life (HRQoL). Using the 2013 Korean Community Health Survey (KCHS) raw data, we analyzed 3537 NBLSS beneficiaries aged 65 yr and older. HRQoL was measured using the Euro QoL five-dimension questionnaire (EQ-5D). Hierarchical multiple regression analyses were used to predict the EQ-5D scores. The explanatory power for HRQoL increased to 21.4% when the general characteristics and physical environment were included. HRQoL showed statistically significant differences in the environmental variable, level of safety (P=0.001), natural environment (P=0.001), living environment (P=0.001), traffic condition (P<0.001), and access to health services (P<0.001). Physical environment positively correlated with HRQoL(r=.119, P<0.001), thus confirming its influence (ß=.092, P<0.001). We should strive to manage the physical environment to improve the quality of life of elderly NBLSS beneficiaries.

Hypopharyngeal carcinoma is one of the most common types of head and neck tumors. Suppressers of cytokine signalling (SOCS) family members are key regulators of cytokine homeostasis, they play important roles in the process of cell proliferation, differentiation, maturation and apoptosis, and participate in the occurrence and development of tumor. The abnormal activation of NF-κB is an important feature of the tumor. The aim of this study was to investigate the relationships among SOCS, NF-κB p65 and hypopharyngeal carcinoma development.C We included 72 hypopharyngeal cancer patients and 9 swallow cyst patients. The patients were recruited at The Second Hospital of Shandong University (Jinan, China) between 2014 and 2016. The mRNA and protein expression levels of SOCS-1, SOCS-3 and NF-κB p65 in hypopharyngeal carcinoma tissues, paracancerous tissues and control tissues were detected by RT-PCR and Western blot analysis, respectively. Hypopharyngeal carcinoma tissues had lower level expression of SOCS-1 and SOCS-3 than pericarcinoma tissues, but there was no significant difference, while cancer tissues had significantly higher level expression of NF-κB p65 than that of pericarcinoma tissues (0.412±0.266, 0.281±0.231, t=2.969, P=0.004). The early stage patients had striking higher level expression of SOCS-1 and SOCS-3 than that in advanced stages (F=16.202, P<0.001; F=52.295, P<0.001), while the expression of NF-κB p65 in early stages had lower level than that in advanced stages (F=3.383, P=0.04). SOCS-1, SOCS-3 may be protective factors while NF-κB p65 could be a harmful factor in hypopharyngeal carcinoma.

We aimed to explore risk factors for patients with liver cirrhosis complicated with spontaneous bacterial peritonitis (SBP). The clinical data of 195 patients with liver cirrhosis complicated with SBP (study group), admitted from March 2014 to March 2018 in Tianjin Medical University General Hospital, Tianjin, China and 195 patients without liver cirrhosis complicated with SBP (control group) were retrospectively analyzed. Clinical manifestations of patients and laboratory findings were analyzed. Univariate and multivariate Logistic regression analysis were used for independent risk factors for the occurrence of SBP. There were significant differences in patients between study group and control group in Child-Pugh classification, peripheral blood white blood cell (WBC), serum C-reactive protein (CRP), serum total bilirubin (TBil), ascites WBC, ascites albumin (ALB), and the ratio of complicated with upper gastrointestinal hemorrhage, hepatorenal syndrome, hepatic encephalopathy and hyponatremia (P<0.01); Logistic regression analysis found that Child-Pugh classification, serum CRP, ascites WBC, ascites ALB, upper gastrointestinal hemorrhage, hepatorenal syndrome, hepatic encephalopathy and hyponatremia were related to the occurrence of SBP; and Child-Pugh classification, ascites ALB, upper gastrointestinal hemorrhage, hepatorenal syndrome and hyponatremia were its independent risk factors. Child-Pugh classification, ascites ALB, upper gastrointestinal hemorrhage, hepatorenal syndrome and hyponatremia are independent risk factors for the occurrence of liver cirrhosis complicated with SBP. Cautions should be raised for patients with liver cirrhosis for this. In the early stage, we should make effective antibiotic anti-bacterial infection program, actively prevent and control the occurrence of SBP, improving the survival rate of patients.

Endothelial nitric oxide synthase, encoded by NOS3, produces an atheroprotective metabolite. The G894T, T-786C and 4a/4b variants of this gene associated with increased risk for coronary artery diseases (CAD) have been evaluated in different populations worldwide, and inconsistent results have been obtained. We investigated the association between these three polymorphisms and presence of CAD in Iranian individuals. Overall, 234 people including angiography-positive patients from Amir-Almomenin Hospital (Heart Center), Kordkoy City, Golestan Province, northern Iran in 2016, angiography-negative subjects and healthy individuals from north of Iran were genotyped for the G894T and T−786C variations by PCR-RFLP, and 4a/4b VNTR only by PCR. The genotype distribution and allelic frequencies for the three variants tested were not dramatically different between CAD and control subjects and also between CAD patients and people with pains and symptoms very similar to CAD but no stenosis (P>0.05). Moreover, the odds ratio for CAD related to the G894T (OR=1.09, 95% CI=(0.60-2.00), T-786C (OR=1.04, 95% CI=(0.57-1.89) and 4a/4b (OR=1.75, 95% CI=(0.92-3.32) variants did not show statistical significance. Similarly, the odds ratio for stenosis confirmed by angiography related to the 894T (OR=1.03, 95% CI= (0.61-1.74), -786C (OR=0.90, 95% CI=(0.54-1.50) and 4b (OR=1.64, 95% CI=(0.92 -2.93) alleles were not significant. G894T, T-786C and 4a/4b variants were not associated with risk for CAD and occurrence of angiography-assessed stenosis in Northern Iranian population (P>0.05). These alleles might be population-specific and not to be associated with their corresponding gene pool. However, further analysis is required to clarify other CAD-correlated markers in our community.

Self-care ability was considered as a mechanism to improve the quality of life and reducing the high costs of medical services for elder people. Iran is experiencing increased elder people and healthy aging is one of the challenges. This study aimed to investigate self-care ability of elder people in Shahid Chamran and Dr. Shadpour health complexes, Tabriz- Iran. This was a cross-sectional study done in 2015."The Self-care Ability Scale for the Elderly (SASE)" valid and reliable questionnaire (Persian version) was used for data collection. Totally, 220 samples were selected using G-Power 3.1.5 software. Sampling was conducted through systematic random method. Data were analyzed using SPSS 21 software. Descriptive statistics and independent t-test, one-way ANOVA, Mann-Whitney, Kruskal-Wallis test and Kolmogorov-Smirnov test were used. The mean of self-care ability in elder people was calculated as 56.69± 15.07 (out of 100). 96.8% of participating elderlies, had poor self-care ability. Significant relations were found between elder people self-care ability and their educational level, life status, employment status, and marital status (P<0.05). However, gender, income source, and insurance status had no relations with self-care ability of the elder people (P>0.05). Self-care ability of elder people in Tabriz was at weak level. Regarding, health providers must employ the programs to promote older people self-care ability including improving self-esteem, receiving family help, improved nutrition and mental health improving elderly's quality of life.

Hepatitis delta virus (HDV), as well as hepatitis B virus (HBV), are regarded as one of the main public health issues in developing countries. This retrospective study described histological and serological features of HDV coinfection patients with chronic active HBV in Northeastern Iran. The frequency of HDV seropositivity and its impact on serum liver enzyme levels and pathological features were investigated by reviewing clinical and laboratory data. This study contained chronic active HBV-infected patients having admitted the department during 2009 and 2014. The rate of HDV coinfection in chronic active carriers was 21.84%, with a male predominance. HDV seropositive carriers showed significantly higher concentrations of liver enzyme than chronic active HBV monoinfection. Moreover, there was a strong association between degrees of inflammation with HDV-positive patients’ enzyme levels. The HDV seroprevalence in northeastern Iran was higher than that reported from elsewhere in Iran while comparable to some regions in Middle East, which, in turn, requires more comprehensive tools for diagnosing and screening the blood.

Over the last few decades, Cesarean section (CS) rates have increased significantly worldwide particularly in Iran. Classification methods including logistic regression (LR), random forest (RF) and artificial neural network (ANN) were used to identify factors related to CS among primipars. This cross-sectional study included 2120 primipars who gave singleton birth in Tehran, Iran between 6 and 21 July 2015. To identify factor associated with CS, the classification methods were compared in terms of sensitivity, specificity, and accuracy. The CS rate was 72.1%. Mother’s age, SES, BMI, baby’s head circumference and infant weight were the most important determinant variables for CS as identified by the ANN method which had the highest accuracy (0.70). The association of RF predictions and observed values was 0.36 (kappa). The ANN method had the best performance that classified CS delivery compared to the RF and LR methods. The ANN method might be used as an appropriate method for such data.

Pediculosis or louse infestation is a public health problem in many developing countries where the WHO`s primary health-care program is inefficient and haphazard. The present study aimed to determine the prevalence of Pediculus capitis infestation and its related risk factors in the primary school children in Andimeshk, Dezful and Shoosh counties; Khuzestan Province, Iran. Overall, 28410 students in the age range of 7-11 years old in primary schools of North of Khuzestan Province, southern Iran were examined individually and privately under the flash light for all life cycle stages of lice or their nits in 2016. A questionnaire was filled for each school child before hair examination; then examination was carried out to detect head lice as well as eggs/nits. Overall, 2995 students (10.5%) were infested with pediculosis. There was a significant difference in the prevalence of pediculosis among the boys and girls students. The prevalence of infestation was also significantly (P<0.05) higher in students of living in nomad tribes (23.8%) in comparison of rural (12.4%) and urban areas (6.5%). Several risk factors significantly (P<0.05) related to pediculosis included gender of female, nomad habitat, parents education, father's occupation, having health staff, history of infestation and number of combing per day. Increasing awareness and training of teachers and relatives, as well as for improving standards of personal health, can significantly reduce the prevalence of pediculosis.

Dermatophytosis is known as one of the most frequent cutaneous infections that lead to public health problems to human and animals. The purpose of this study was to determine the prevalence of human dermatophytosis due to zoophilic species in Tehran, Iran from 2014 to 2015. Overall, 3989 patients with clinically suspected fungal infections were studied. Samples of skin, hair, and nails were examined by direct examination and culture. Direct microscopic examination was performed by KOH 15% for skin, KOH and DMSO for nail clippings and lactophenol for hair. Specimens were cultured on Sabouraud dextrose agar and mycobiotic agar. Of 3989 patients, 755 (19%) suffered from dermatophytosis. Out of isolated dermatophytes, 716 (94.8%) anthropophilic, 35 (4.6%) zoophilic and 4 (0.5%) were geophilic species. Among of 35 patients with zoophilic dermatophyte infections, 65.7% were female. The most common type of zoophilic dermatophytosis according to anatomical areas was tinea manuum (34.3%) followed by tinea faciei (22.9%), tinea pedis (20%). Trichophyton verrucosum (57.1%) was the most commonly causative agents of zoophilic dermatophyte infections followed by Microsporum canis (42.9%). Our study showed epidemiological trends in the etiology of the agents causing dermatophytosis have changed in Tehran. Although the prevalence of zoophilic species declined in recent years, due to the tendency of most people to change lifestyles and increased urbanization, promotion of public health care and identification of new preventive and therapeutic strategies are necessary.

Knowledge of skin complications and contributing factors in orthopedic patients is important for design and development of preventive approaches. Therefore, this study was designed to assess skin complications in orthopedic patients. In this case-series study, 126 orthopedic patients referred to Rasoul-e-Akram and Bahman hospitals from 2012 to 2016 with skin complications were analyzed. The adverse effects were assessed with respect to type and contributing factors. Fisher's exact test, Chi-square, and independent sample t-test were performed to assess the associations between skin complications and other variables. Skin complications in orthopedic patients included infections in 33 (26.1%) cases and hypersensitivity reactions in 88 (40%) cases. In total, 66 (55%) cases of fracture and 35 (29.2%) cases of cellulitis were detected, while the remaining cases involved complications such as disc herniation, nerve involvement, and osteoarthritis-related arthroplasty. Severe reactions presenting as toxic epidermal necrolysis were observed in 3 patients, 2 of whom died eventually. Age and gender were not related to the type of skin complications (P>0.05). Complications due to orthopedic treatments were not common. However, since the disease may become fatal on certain occasions, patients should receive more attention from physicians and nurses.

Different definitions are nowadays adopted to estimate the threshold of exposure of households to catastrophic health expenditures and different thresholds are used in various studies. This study was conducted to compare these thresholds and select the most appropriate threshold for defining catastrophic health expenditure in Iran and Brazil. In this cross-sectional study, data were collected from 592 households from District 17 of Tehran, Iran, and 869 households from Porto Alegre, Brazil in 2013. Firstly, catastrophic health expenditures were calculated using two common proportions, i.e. out-of-pocket health payments, as a proportion of total cost and as a proportion of ability to pay. These proportions were analysed using the Receiver Operating Characteristic (ROC) curve and Kappa coefficient. The appropriate cut off point for the thresholds of 5%, 10%, 15%, and 20% of the total expenditure was 0.52, 0.34, 0.28, and 0.46 in Iran, and 0.44, 0.36, 0.28, and 0.23 in Brazil, respectively. The appropriate cut off point for the thresholds of 20%, 25%, 30%, 35%, and 40% of ability to pay was 0.31, 0.28, 0.25, 0.34, and 0.40 in Iran and 0.36, 0.34, 0.30, 0.38, and 0.46 in Brazil, respectively. The appropriate cut off point for the proportion of out-of-pocket health payments to total expenditure and proportion of health expenditure to ability to pay was the threshold of 20% of total expenditure and 35% of ability to pay, respectively.

Limb-girdle muscular dystrophies (LGMDs) are a large group of genetic diseases in which there is muscle weakness and they are heterogonous diseases. The following study conducted in September 2017 in Mashhad, northwest of southern Khorasan Province, Iran reports a four years girl of autosomal recessive LGMD with proximal weakness and myopathy patterns. We detected four new alternations in this patient not reported for our population. One of them was important clinically that exists as unreported homozygous deletion encompassing exon 2 of the Sarcoglycan Beta (SGCB) gene. The use of Next Generation Sequencing (NGS) in the diagnosis of rare genetic pathologies is becoming ever more widespread in clinical practice. We used the NGS method for the first time to analysis the mutation in this family.