فهرست مطالب

Public Health - Volume:48 Issue:11, 2019
  • Volume:48 Issue:11, 2019
  • تاریخ انتشار: 1398/08/12
  • تعداد عناوین: 30
|
  • Huahui LIU, Wen HUANG* Pages 1945-1951
    Background

    We aimed to investigate whether the polymorphisms of gene heparan sulfate proteoglycan 2 (HSPG2) and chondroitin sulfate proteoglycan 2 (CSPG2) are associated with increased risk of intracranial aneurysms (IAs) susceptibility.

    Methods

    The Cochrane Library, Medline, PubMed, and Embase databases were carefully searched for potential researches before Mar 30, 2018. The title, abstract, and full text were assessed to determine whether the paper was suitable for inclusion. The pooled odds ratios (ORs) with 95% confidence intervals (CIs) were presented to assess the associations between CSPG2 and HSPG2 polymorphisms and IAs susceptibility.

    Results

    We enrolled 7 papers, 4 matched single nucleotide polymorphisms (SNPs) of CSPG2 (rs173686, rs251124) or HSPG2 (rs173686, rs251124), and a total of 8651 participations (3674 with IAs and 4977 for control). For the rs251124 polymorphism of CSPG2, the quantitative synthesis from 5 studies showed significant difference in the gene allele comparison of T vs. C (OR, 1.129; 95% CI, 1.029, 1.238; P=0.01). Similar results were found for rs3767137 of HSPG2 (A vs. G, OR, 0.842, 95% CI=0.759-0.935, P=0.001). However, for the rs173686 polymorphism of CSPG2 and rs7556412 polymorphism of HSPG2, no significant difference was found (P=0.259 and P=0.474, respectively)

    Conclusion

    The SNPs rs251124 of CSPG2 and rs3767137 of HSPG2 had statistically significant associations with IAs susceptibility. The minor allele T of rs251124 demonstrated a harmful effect but the minor allele A of rs3767137 demonstrated a protective role with regard to the risk of IAs. However, no such associations were found in the SNPs rs173686 of CSPG2 and rs7556412 of HSPG2.

    Keywords: SNP, HSPG2, CSPG2, Intracranial aneurysm, Meta-analysis
  • Zhiwei ZHANG, Bojun LI, Zhichao WANG, Lina WU, Lili SONG, Yexiang YAO* Pages 1952-1959
    Background

    We aimed to systematically evaluate the efficacy of high-voltage pulsed current (HVPC) in the treatment of pressure ulcer.

    Methods

    We searched the databases of PubMed, Cochrane Library, Elsevier and EMBASE to identify randomized controlled studies on the application of HVPC in pressure ulcer treatment, up to January 2019. Two authors independently screened the literature according to the inclusion and exclusion criteria, extracted the data and evaluated the quality. RevMan 5.3 software was used for statistical analysis. Four randomized controlled trials involving a total of 176 patients were included in the study.

    Results

    Meta-analysis showed that the percentage of wound area reduction in the HVPC treatment group was higher than that in the control group (95%CI 24.59, 47.76, P<0.001). Descriptive analysis showed that there was no significant difference in wound healing between the HVPC treatment group and the control group. One study reported that there was contact dermatitis, and the rest of the studies reported no adverse events.

    Conclusion

    Compared with the conventional therapy, the combination with HVPC therapy can reduce the area of pressure ulcers more effectively. However, due to the small number of the studies included in this evaluation, the conclusions need to be verified by more high-quality studies.

    Keywords: High voltage pulse current, Pressure ulcer, Meta-analysis
  • Minsu PARK, Hyeon Kyeong CHOI, Jeung Hee AN* Pages 1960-1970
    Background

    We aimed to elucidate the preventive effects of taurine against osteopenia in ovariectomized (OVX) rats and the mechanisms by which taurine regulates osteoblastogenesis in vitro and in vivo.

    Methods

    The effects of the taurine on human osteoblast MG-63 cell differentiation and osteoblastogenesis effect in OVX rat were examined Konkuk University in 2018 by evaluating osteoblast differentiation, and expression of osteoblast-specific factors by western blotting analysis.

    Results

    Taurine supplementation significantly improved alkaline phosphatase (ALP) activity and mineralization in a concentration-dependent manner. Further, taurine induced the expression of osteogenic growth factors such as bone morphogenetic protein-2 (BMP-2), runt-related transcription factor 2 (RUNX2), small mothers against decapentaplegic 1/5/8 (SMAD1/5/8), wingless-type MMTV integration site family member 3A (Wnt3a), and collagen type 1 (COL-1) via mitogen-activated protein kinase (MAPK) and serine/threonine protein kinase (Akt). Moreover, the RUNX2 activity of the taurine-treated group was enhanced by protein-protein interactions such as Wnt3a-induced p-AKT/RUNX2 and BMP-mediated SMADs/MAPK/RUNX2 interactions.

    Conclusion

    Our in vitro and in vivo results suggested that taurine can be considered as a potential therapeutic candidate agent for preventing bone loss in postmenopausal osteoporosis.

    Keywords: Taurine, Osteoporosis, Osteoblast, Ovariectomized rat
  • Jing GUAN*, Guojun WANG, Chunli GENG Pages 1971-1978
    Background

    There is a lack of specific study of the impact of physical activities on middle-aged and elderly adults in developing countries. We aimed to investigate the causal impact of different levels of physical activity on self-rated health status for Chinese adults with an average age of 61 yr from years 2011 to 2015.

    Methods

    China Health and Retirement Longitudinal Study (CHARLS) conducted by the Peking University of China was utilized which was a longitudinal database and thus allowed to control for the effect of unobserved individual heterogeneities. In this study, this control was carried out using fixed effect and propensity score matching methods. In addition, this study further took into consideration of the discrete feature of our response variable, self-rated health status, by applying an ordered logit model.

    Results

    Participating in moderate-to-vigorous physical activity significantly increased individuals’ self-rated health status (P<.05) whereas lower intensity physical activity did not increase individuals’ self-rated health status.

    Conclusion

    Moderate-to-vigorous physical activity is an important instrument to improve the health status of middle-aged and elderly population in China. Government should encourage people to involve in more moderate-to-vigorous physical activity as it is an efficient way to improve individuals’ health status.

    Keywords: Physical activity, Self-rated health status, Propensity score matchin
  • Siriwan KAJORNKASIRAT*, Jirapond MUANGPRATHUB, Nathaphon BOONNAM Pages 1979-1987
    Background

    Southern Thailand has the highest Dengue Hemorrhagic Fever (DHF) incidence and fatality rate in Thailand. Geographic Information Systems (GIS) technology and spatial analysis techniques are powerful tools to describe epidemiological patterns. The aim of this study was to develop an Online Advanced Analytical Service: Profiles for Dengue Hemorrhagic Fever Transmission (OSD) in Southern Thailand.

    Methods

    The system was developed using JavaServer Pages (JSP) and Database Management System (DBMS) with Structured Query Language (SQL) technology as the web database tool for data entry and data access, web Mathematica technology for data analysis and Google Maps™ API technology for online data display as the map service implementing GIS technology.

    Results

    The OSD system has been available online at URL http://www.s-cm.co/dengue. Users performed data entry using the web-service with login by social network (i.e. Facebook) account, used data analysis tools with online real-time statistical analysis and data display with transparent color circles overlaid on Google Maps™.

    Conclusion

    The OSD system display represents the distribution of DHF cases with spatial information. This system enables health planners to provide interventions for DHF focusing on prevention, control, and strategic planning.

    Keywords: Dengue Hemorrhagic Fever (DHF), Spatio-temporal, Advanced analytic, Google Maps™
  • Ladan ROKNI*, Sam, Hum PARK, Turgay AVCI Pages 1988-1996
    Background

    Medical tourism is a type of service sector in which there is direct interaction between healthcare practitioners and patient-customers, leading to several challenges due to cultural and social background differences. We aimed to investigate the determinants of delivering a culturally-oriented service in medical tourism sector.

    Methods

    Adopting an exploratory qualitative approach, interviews were conducted through a semi-structured procedure with authorities across various medical sectors in South Korea in winter 2017. Participants were all involved in and aware of the medical tourism sector, both academically and clinically. The interview transcripts were coded through a systematic thematic analysis.

    Results

    In order to focus on non-clinical service in medical tourism sector, and a system of  cultural competence delivery, three main themes were identified: 1) The personal characteristics of doctors; 2) External supports to be provided by the associated organisations; and finally, 3) Skilfulness, which implies the culturally-oriented interaction with foreign patients.

    Conclusion

    Several strategies are suggested to address the non-clinical challenges and conflicts in doctor-patient interaction in the sector of medical tourism. It is likely that providing a culturally-oriented service in this sector demands for a comprehensive planning, and several strategies for implementation in order to support and train a team of skilful doctors with non-clinical characteristics. These finding will likely have insights for those organisations searching to improve their performance in the medical tourism sector.

    Keywords: Medical tourism, Cultural competence, Human behaviour, South Korea
  • Chunyu LIU*, Xiaodan YANG, Changqing CHEN Pages 1997-2006
    Background

    We aimed to explore the correlation between metabolic syndrome and intracranial and extracranial arteriosclerosis. Overall, 318 over 60-yr-old patients with cerebral infarction or TIA who were examined by digital subtraction angiography (DSA) in our hospital were enrolled in the study.

    Methods

    Overall, 192 patients with intracranial and extracranial arteriosclerosis were admitted to the case group (the intracranial and extracranial arteriosclerosis group). Also, 196 patients, suffering from the same condition, were selected from our outpatient clinic and enrolled in the control group.

    Results

    The prevalence of metabolic syndrome was 31.4%. The prevalence of each metabolic syndrome component in the intracranial arteriosclerosis group was higher than those of the extracranial arteriosclerosis and the control groups. The average component values in the intracranial arteriosclerosis group was higher than those observed in other groups. The prevalence rate of metabolic syndrome had no significant difference among different degrees of stenosis for extracranial arteriosclerosis group. There was a remarkable correlation between intracranial arteriosclerosis and metabolic syndrome (P<0.001), while no correlation was detected between extracranial arteriosclerosis and metabolic syndrome (P<0.001). We concluded that metabolic syndrome may increase the prevalence risk of intracranial arteriosclerosis. There was a significant correlation between intracranial arteriosclerosis and metabolic syndrome components including hyperglycemia and hypertension. Also, there was a significant correlation between extracranial arteriosclerosis and metabolic syndrome components including hyperglycemia.

    Conclusion

    We believe that at least three components of metabolic syndrome can obviously increase the risk of intracranial arteriosclerosis.

    Keywords: Metabolic syndrome, Intracranial arteriosclerosis, Extracranial arteriosclerosis
  • Youngran YANG* Pages 2007-2015
    Background

    The incident of chronic kidney disease (CKD) of metabolically healthy obesity (MHO) has not been consistently determined.

    Methods

    This study used data of Anseong Ansan community-based cohort, a part of the Korean Genome and Epidemiology Study (KoGES) provided by the Korea Center for Disease Control and Prevention (KCDC). Surveys were received from the Anseung and Ansan residents every two years between 2001-2002 and 2015-2016 for a total of 7 surveys over all. The subjects were divided into 4 phenotypes based on the presenting obesity and metabolic syndrome; 1) metabolically healthy normal weight (MHNW), 2) metabolically healthy obesity (MHO), 3) metabolically abnormal normal weight (MANW), and 4) metabolically abnormal obesity (MAO). Data were analyzed using the Cox proportional hazards regression model.

    Results

    Of 8,865 subjects, 1,551 cases of 49,995 person-year (3.1%) developed incident CKD. At an adjusted hazard ratio (HR) of 1.13, the MHO group was not associated with a higher risk of incident CKD (95% confidence interval (CI): 0.92-1.41, P =0.234, using MHNW as the reference). The adjusted HRs of the MANW and MAO groups for incident CKD were significantly higher than those of the MHNW groups: 1.31 (95% CI: 1.05-1.64, P=0.017) for MANW and 1.49 (95% CI: 1.23-1.79, P<0.001) for MAO.

    Conclusion

    MHO is not associated with a high risk of CKD, and that MANW and MAO increase the risk of the incident CKD. Thus, it is important to consider metabolic health status rather than obesity when evaluating CKD risk.

    Keywords: Metabolically healthy obesity, Chronic kidney disease, Obesity, Metabolic syndrome, Risk
  • Pavla Staňková*, Šárka Papadaki, Ján DVORSKÝ Pages 2016-2024
    Background

    This paper investigated the impact of hospitals´ horizontal integration in the Czech Republic on the cost behavior. The aim of the research was to examined the hospitals costs in specific environment of region hospitals at NUTS 3 level (Nomenclature of Units for Territorial Statistics) – Administrative Regions.

    Methods

    The survey was conducted in the period from April to August 2016 in the Czech Republic. The research was divided into two parts. The first part was based on data obtained from the Institute of Health Information and Statistics of the Czech Republic. We used Statgraphics Centurion XVII for the descriptive statistics and data visualization. Second part of the results was obtained through a survey research focused on managers of the horizontal integrated hospitals and their experiences with the cost behavior.

    Results

    The results from statistical survey showed that up to 80 percent of the observed region hospitals at NUTS 3 level, the cost of treatment for a patient per day has decreased after integration into an association. Based on primary survey, 73% hospital managers confirm these results and see one of the advantages that it is possible to reduce costs through integration of hospitals. The largest savings, according to hospital managers, are due to central purchasing and investments, together and they have a better negotiation position with suppliers.

    Conclusion

    We can confirm that horizontal integration of hospitals can lead to reduction of costs and higher efficiency, in the specific environment of region hospitals at NUTS 3 level.

    Keywords: Hospitals, Costs, Horizontal integration, Effectiveness, Cost reduction
  • In Chul LEE, Jae Sook LEE Jeong, Hyun LEE, Yeona KIM, Wi Young SO* Pages 2025-2034
    Background

    Kenya AA green coffee bean extracts were tested for natural ingredients used for anti-oxidative and anti-inflammatory purposes in cosmetic products.

    Methods

    Anti-oxidative activities were measured by total polyphenol, 1,1-diphenyl-2-picrylhydrazyl (DPPH), and the 2,2′-azinobis (3-ethylbenzothiazoline-6-sulfonic acid) (ABTS) assays. Anti-inflammatory activities were evaluated via nitric oxide (NO) assays, and through quantification of inducible nitric oxide synthase (iNOS), and cyclooxygenase-2 (COX-2) protein expression by western blotting. Data analyses were performed using independent Student’s t-tests, with statistical significance set at P < 0.05.

    Results

    Total polyphenol content of water and ethanol extract was 169.0 ± 3.1 mg and 300.34 ± 16.6 mg tannic acid/g dry weight, respectively. The DPPH and ABTS radical scavenging activities of all the extracts were significantly increased in a concentration-dependent manner. Kenya AA green coffee bean extracts were toxic at a concentration of 1,000 µg/mL in RAW 264.7 cells. Anti-inflammatory activity as determined by NO assay showed that lipopolysaccharide (LPS)-induced NO was significantly inhibited following treatment with Kenya AA green coffee bean extracts in a concentration-dependent manner. iNOS and COX-2 protein expression was also significantly inhibited following treatment.

    Conclusion

    These results highlight the potential of Kenya AA green coffee bean extracts as a naturally active anti-inflammatory agent in cosmetic products.

    Keywords: Anti-inflammatory, Anti-oxidative, Cyclooxygenase-2, Green coffee beans, Inducible nitric oxide synthase
  • Guode SU*, Lili DING, Zhenkun ZHANG Pages 2035-2040
    Background

    To investigate the effect of interleukin-6 (IL-6) gene polymorphism on pediatric pneumonia.

    Methods

    Overall, 438 patients with pediatric pneumonia (Observation group) treated in Xuzhou Children Hospital, Cinna from July 2013 to July 2018 were randomly enrolled. Meanwhile, 423 healthy children (Control group) in the same time period were randomly selected. PCR was applied to amplify the IL-6-572 gene fragment. The IL-6-572 polymorphism was detected, and the impacts of gene polymorphism difference on pediatric pneumonia were observed.

    Results

    There were differences in the IL-6 genotypes between the two groups (P<0.05). Among the CG+GG genotypes in Observation group, G allele frequency was higher than that in control group (P<0.05). The risk of pediatric pneumonia for GC genotype was 2.13 times as high as that for CC genotype, and the risk of pediatric pneumonia for GG genotype was 5.56 times as high as that for CC genotype.

    Conclusion

    IL-6 gene polymorphism might be related to the pediatric pneumonia and the population with G allele at this locus may be more prone to pediatric pneumonia.

    Keywords: Interleukin-6, Gene polymorphism, Pediatric pneumonia, Community acquired pneumonia
  • Sohyune R SOK* Pages 2041-2049
    Background

    The purpose of this study was to examine the effects of facility adaptation promotion program on self-esteem, depression, relationship, life satisfaction, and adaptation to facility of Korean older adults in nursing home.

    Methods

    A quasi-experimental pretest-posttest control group design was employed. Study participants were a total of 73 older adults aged 65 yr and older (Experimental: n=36, Control: n=37) who were living at nursing home in Seoul, South Korea in 2016. They were recruited through convenient sampling. Measures were Self-esteem scale, Korean Geriatric Depression Scale, Relationship Change Scale, life satisfaction scale, and facility adaptation scale. Data were analyzed using the SPSS version 21.0 with descriptive statistics, the Chi-squared test, and independent t-test.

    Results

    Facility adaptation promotion program increased self-esteem (t=19.067, P<0.001), relationship (t=24.533, P<0.001), life satisfaction (t=16.501, P<0.001), and adaptation to facility (t=24.328, P<0.001), and decreased depression (t=14.491, P<0.001) of Korean older adults in nursing home.

    Conclusion

    Facility adaptation promotion program can be implied for improving self-esteem, relationship, life satisfaction, and adaptation to facility, and for decreasing depression of Korean older adults in nursing home.

    Keywords: Aged, Nursing home, Adaptation, South Korea
  • Ghobad MORADI, Amjad MOHAMADI BOLBANABAD*, Ardavan MOINAFSHAR, Hemn ADABI, Mona SHARAFI, Bushra ZAREIE Pages 2050-2057
    Background

    The Decayed, Missing and Filled Teeth (DMFT) is a valuable index used for determining and monitoring the oral health status in a community. This study aimed to determine the oral health status and its associated factors based on the DMFT index among people aged 15 to 45 yr old in Kurdistan Province, west of Iran.

    Methods

    This study was conducted on 2000 people aged 15-40 yr old in Kurdistan, western Iran in 2015. Using a questionnaire, data were collected by four trained dental students. The dependent variable was the DMFT index. The collected data were analyzed using T-test, ANOVA, Pearson statistics, Kendall statistics, and multiple regression.

    Results

    The mean (SD) values of Decayed teeth (DT), Missing teeth (MT), and Filled teeth (FT) indices in the participants were 2.85±1.7, 1.15±1.84, and 3.33±1.7, respectively. The mean (SD) value of total DMFT index was 7.33±3.0. The results of multiple regression showed that the frequency of using dental floss (coefficient= -0.296, P=0.001), socio-economic status (coefficient=-0.199, P=0.001), parental education (coefficient= -0.183, P=0.001), frequency of brushing (coefficient=-0.182, P=0.001), and frequency of the use of mouthwash (coefficient=-0/143, P=0.001) had the highest level of with association with the DMFT index.

    Conclusion

    The oral health status of the adult population is alarming and undesirable. The oral and dental health status can be improved via changing behavioral habits (such as brushing, using mouthwashes, and dental floss), promoting socioeconomic status, increasing individual’s and parent's level of education, and enhancing people’s access to health insurance.

    Keywords: DMFT index, Oral health, Adult, Epidemiology, Iran
  • Reza OMANI SAMANI, Saman MAROUFIZADEH*, Amir ALMASI HASHIANI, Mahdi SEPIDARKISH, Payam AMINI Pages 2058-2064
    Background

    Infertility is a public health problem and can lead to depressive symptoms. In recent years, the WHO-five Well-being Index (WHO-5) has been used as a screening measure for depression, but study on psychometric properties in people with infertility is scarce. The objective of this study was to examine the reliability and validity of the Persian version of the WHO-5 in people with infertility.

    Methods

    Overall, 539 infertile patients from a referral infertility center in Tehran, Iran in the period between May and Aug 2017, completed the WHO-5, along with other psychological measures: the Patient Health Questionnaire-9 (PHQ-9) and the Hospital Anxiety and Depression Scale (HADS). Construct validity and internal consistency of WHO-5 were evaluated using confirmatory factor analysis (CFA) and Cronbach’s alpha, respectively. Convergent validity was examined by relationship with PHQ-9 and HADS.

    Results

    The prevalence of poor well-being was 44.3% and that of depression was 18.6%. CFA confirmed the unidimensional factor structure of the WHO-5. Internal consistency of the WHO-5 was good (Cronbach’s alpha=0.858). The WHO-5 significantly correlated with the PHQ-9 (r=-0.522), HADS-anxiety (r=-0.524) and HADS-depression (r=-0.630), confirming convergent validity.

    Conclusion

    The WHO-5 is a short and easy to use questionnaire with satisfactory reliability and validity that appears suitable for use as a screening test for depressive symptom in infertile people. In addition, the prevalence of depression and poor well-being was very high in this population.

    Keywords: Infertility, WHO-5, Reliability, Validity, Iran
  • Arezoo BOZORGOMID, Yazdan HAMZAVI*, Sahar HEIDARI KHAYAT, Behzad MAHDAVIAN, Homayoon BASHIRI Pages 2065-2069
    Background

    The human immunodeficiency virus (HIV) is one of the greatest health challenges facing worldwide. The virus suppresses the immune system of the patient. The purpose of this study was to describe the epidemiology of Pneumocystis jirovecii colonization, rarely found in normal people, in patients with stage 4 HIV infection in Kermanshah, Iran, from Mar 1995 to Feb 2016.

    Methods

    In this retrospective study, we surveyed medical records of stage 4 HIV-positive patients with Pneumocystis admitted to Behavioral Counseling Center of Kermanshah. Several parameters were analyzed including demographic characteristics, body mass index (BMI), treatment regimen, diagnostic methods, presenting signs and symptoms, presence of co-pathogens (bacteria, viruses, or fungi), and nadir of CD4 T-cell count before and after treatment.

    Results

    During the study period, 114 HIV-positive patients were analyzed, of whom 93 were male and 21 were female, respectively. Of 114 cases, 26 (22.8%) patients had Pneumocystis. All 26 colonized patients had CD4 cell counts below 200 cells/mm3 (range 9–186). The median CD4 count increased from 91 cells/mm3 pre- trimethoprim/sulfamethoxazole (TMP/SMX) to an estimated 263 cells/mm3 after starting (TMP/SMX). BMI was normal in the majority of the patients (85%) and coughs, sputum, and chest pain (19; 73%) followed by dyspnea, weakness, and lethargy (7; 27%) were the most common presentations of fungal pneumonia.

    Conclusion

    HIV/AIDS-infected patients are an environmental reservoir of P. jirovecii infection that might transmit the infection from one person to another via the airborne route. In addition, rapid identification of such individuals may reduce the morbidity and mortality rate of this disease.

    Keywords: Pneumocystis jirovecii pneumonia, Prevalence, HIV, Iran
  • Roya ALASVAND JAVADI, Forough KAZEMI, Somayeh FALLAHIZADEH, Reza ARJMAND* Pages 2070-2073
    Background

    Intestinal parasitic infections (IPIs) are frequently considered one of the public health problems worldwide. Therefore, we aimed to evaluate the prevalence of IPIs among patients.

    Methods

    In this Retrospective cross-sectional study, 50000 stool samples (24551 males) were collected among males and females referred to Naft Hospital of Ahvaz, southern Iran during 2007-2017. At first, the collected specimens were macroscopically observed for the presence of trophozoites, eggs, cysts using the procedure of direct as well as the method of formalin-ether concentration.

    Results

    Of 50000 samples, 2878 (5.75%) cases were positive for IPIs that 1426 and 1452 cases were observed in the males and females, respectively. Giardia lamblia with 887 (1.774%) cases, Blastocystis hominis with 784 (1.568%) cases, Entamoeba histolytica/dispar with 685 (1.37%) cases, E. coli with 357 (0.714%) cases, Trichomonas hominis with 43 (0.086%) cases, Chilomastix mesnili with 40 (0.08%) cases, Hymenolepis nana with 38 (0.076%) cases, Lodamoeba butschlii with 25 (0.05%) cases, Endolimax nana with 18 (0.036%) cases, Taenia saginata proglottid with one (0.002%) case were found.

    Conclusion

    Our finding showed a relatively high prevalence of IPIs among people referred to Naft Hospital of Ahvaz, southern Iran during 2007-2017.

    Keywords: Prevalence, Intestinal parasitic infections, Giardia lamblia, Blastocystis hominis, Iran
  • Afsaneh BAZGIR, Mehdi AGHA GHOLIZADEH, Faezeh SARVAR, Zahra PAKZAD* Pages 2074-2078

    Autosomal recessive primary microcephaly (MCPH) is a rare genetic disorder, leading to the defect of neurogenic brain development. Individuals with MCPH reveal reduced head circumference and intellectual disability. Several MCPH loci have been identified from several populations. Genetic heterogeneity of this disorder represents molecular testing challenge. An 8 yr old female, born from consanguineous parents, was attended to Fardis Central Lab, Alborz, Iran. Based on the reduced circumference and intellectual disability, MCPH was diagnosed. Whole exome sequencing of the patient identified a novel homozygous frameshift mutation (c.2738dupT, p.Cys914fs) in exon 9 Abnormal Spindle-like Microcephaly )ASPM( gene. By Sanger sequencing, segregation analysis showed that both parents were heterozygous carriers for this variant. The novel frameshift mutation likely truncates the protein, resulting in loss of normal function ASPM in homozygous mutation carriers. The study might add a new pathogenic variant in mutations of the ASPM gene as a causative variant in patients with MCPH and might be helpful in genetic counseling of consanguineous families.

    Keywords: Autosomal recessive primary microcephaly, ASPM, Whole exome sequencing
  • Evren GUMUS* Pages 2079-2082

    In the present paper, we report two rare cases of Down syndrome (DS); mosaic Down-Turner syndrome and DS with rob (13;14). Patient 1 karyotype is mos 45,X[41] / 47, XX,+21[59] and patient 2 karyotype is 46, XY, rob (13;14)(q10;q10),+21. With these two unusual cases, we aimed to look at the most common numerical and structural chromosome anomalies from a different window and evaluate the phenotypic effect in the presence of different chromosomal anomalies. Our main goal is to evaluate the phenotypic characteristics of these two rare variants in the light of literature.

    Keywords: Down syndrome, Double aneuploidy, Translocation
  • Jinkui LU, Yongsheng XU, Yongli XU, Gang LIU, Jianming XIANG* Pages 2083-2085

    No Abstract

  • Min MU, Jing WU, Jian Hua WANG*, Xin Rong TAO Dong HU, Kai LIU, Ke Hong FANG, Song XUE, Jie SHANG Pages 2088-2090
  • Malgorzata OBARA*, GOLEBIOWSKA, Katarzyna Eufemia PRZYBYLOWICZ, Anna DANIELEWICZ, Jakub MORZE Pages 2091-2093
  • Tingting GAO, Yu Tao XIANG, Zeying QIN, Yueyang HU, Songli MEI* Pages 2094-2096
  • Abraham ASSAN, Moses AIKINS, Amirhossein TAKIAN* Pages 2097-2099
  • Mohammad Yousef MEMAR, Mina YEKANI, Mohammad AGHAZADEH, Hossein BANNAZADEH BAGHI* Pages 2103-2104
  • Farshad AMINI, BEHBAHANI, Mohsen BAHRAMI, Behzad EFTEKHAR, Bagher MINAEI, Majid DADMEHR* Pages 2105-2107
  • Alireza ENTEZARI*, Fatemeh MAYVANEH Pages 2108-2111
  • Mohammad EZATI ASAR, Mehdi HAGHI* Pages 2112-2113