ORIGINAL_ARTICLE
Assessing the Quality of Educational Services of Iranian Universities of Medical Sciences Based on the SERVQUAL Evaluation Model: A Systematic Review and Meta-Analysis
Background: Determining the gap in the quality of educational services, followed by the adoption of appropriate strategies for eliminating or reducing the existing obstacles, is considered the first basic step in developing quality improvement programs for universities. Therefore, this study was conducted to evaluate the quality of educational services of Iranian medical universities.Methods: This study was a systematic review and a meta-analysis based on the SERVQUAL evaluation pattern, and data collection was done through accessing published articles in reputable academic websites inside and outside Iran including and searching 4 keywords “the quality of educational services, SERVQUAL Evaluation Model, educational service gap, and Iran” without time and language restrictions. The CMA software, version 2.2.064, was used for data analysis.Results: There was a negative gap in all 5 dimensions. The average gap in all the dimensions was -1.335 out of the maximum 5 (responsiveness=-1.463, assurance=-1.367, tangibility=-1.364, empathy=-1.297, and reliability=-1.091).Conclusion: Based on the results of this study, it can be claimed that students are not satisfied with the current state of the quality of the educational services provided, and we are far away from achieving the ideal state and wining their full satisfaction. The differences observed among the 5 dimensions of the quality of educational services can be used as a guide for planning and allocating resources. Iranian medical science universities should try to pay their most attention to the dimensions that have the widest gaps and place them at the top of their priorities.
https://ijms.sums.ac.ir/article_44946_4aa917fceedd67acf0d71b6968b27557.pdf
2019-07-01
273
284
10.30476/ijms.2019.44946
Universities
Quality Improvement
Students
Iran
Abdolreza
Gilavand
gilavanda@gmail.com
1
Department of Education Development Center, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran
LEAD_AUTHOR
Elham
Maraghi
elhammaraghi@gmail.com
2
Department of Biostatistics and Epidemiology, School of Public Health, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran
AUTHOR
ORIGINAL_ARTICLE
Correlation between Ultrafiltration Coefficient and Effective Lymphatic Absorption Rate in Continuous Ambulatory Peritoneal Dialysis Patients: A Possible Paradigm Shift
Background: The relative contribution of transcapillary water movement and lymphatic reabsorption in peritoneal dialysis (PD) is a critical issue, particularly in patients with ultrafiltration failure (UFF). Based on routine results obtained from the PD Adequest 2.0 software, the present study aimed to re-evaluate the separate effects of transcapillary water movement and lymphatic reabsorption on the net ultrafiltration capacity in continuous ambulatory peritoneal dialysis (CAPD) patients without UFF.Methods: Seventy CAPD patients without UFF and PD duration less than 2 years entered the study. The study was conducted during January-April 2016 at Mashhad University of Medical Sciences, Mashhad, Iran. Each patient had 1 to 3 peritoneal equilibration test (PET) results which were used to analyze the determinants of fluid transport, lymphatic reabsorption, and ultrafiltration. Pearson and Spearman correlation tests were used to determine the correlation between continuous and ordinal factors, respectively. The data were analyzed using the SPSS software version 19.0. Results: In terms of the effective lymphatic absorption rate (ELAR) and ultrafiltration coefficient (LpA) values, there was no difference in the high or high-average transporters compared to the low or low-average transporters. However, a positive and highly significant correlation between ELAR and LpA was found.Conclusion: A significant correlation between ELAR and LpA was found in CAPD patients without UFF and duration less than 2 years from the beginning of PD.The abstract was presented in the 53rd ERA-EDTA Congress, Austria, as a poster and published in Nephrology Dialysis Transplantation as a supplement (2016; Vol. 31).
https://ijms.sums.ac.ir/article_44954_38598bbe54cbcdbcb275bb2e7d8e046c.pdf
2019-07-01
285
290
10.30476/ijms.2019.44954
peritoneal dialysis
Peritonitis
Ultrafiltration
Reza
Hekmat
rezahekmat22@gmail.com
1
Department of Nephrology, Ghaem Hospital, Mashhad University of Medical Sciences, Mashhad, Iran
LEAD_AUTHOR
ORIGINAL_ARTICLE
Telepsychiatry- Based Care for the Treatment Follow-Up of Iranian War Veterans with Post-Traumatic Stress Disorder: A Randomized Controlled Trial
Background: Physical limitations, distance, and time are major obstacles to access to mental health services for veterans and soldiers. This study was aimed at comparing the efficacy of telepsychiatry and face-to-face consultation as methods of treating post-traumatic stress disorder (PTSD). The comparison was based on treatment costs, access to health services, completion of therapy sessions, and patient satisfaction as variables.Methods: This research was a double blinded clinical trial supported by Tabriz University of Medical Sciences and conducted in 2015 to 2016 in Tabriz, Iran. Totally, 60 patients were included in the study. Through simple randomization, the patients were divided into experimental and control groups, both of whom were treated through face-to-face consultations for the first 3 sessions. Six follow-up sessions were then held remotely with the experimental group and face to face with the control group. Data were collected using a self-designed and reliable questionnaire and entered in SPSS, version 16. Intergroup comparisons were performed using descriptive statistical measures. Finally, the results were tested using the t test method. Results: A significant relationship was found between the use of information technology and increased patient satisfaction, completion of therapy sessions, and reduction in treatment costs; however, no significant difference was found between the groups in terms of reduction in waiting time and access to a psychiatrist.Conclusion: Telepsychiatry is an effective means of delivering mental health services to psychiatric outpatients living in remote areas with limited resources. The results provide preliminary support for the use of telepsychiatry in treating PTSD and improving access to care.Trial Registration Number: IRCT2016020826449N1
https://ijms.sums.ac.ir/article_44944_9f36ade82ef4caeabc661378c5a771ba.pdf
2019-07-01
291
298
10.30476/ijms.2019.44944
Warfare
Stress Disorders, Traumatic
Telemedicine
Informatics
Yousef
Haghnia
haghnia@gmx.com
1
Health Information Technology, School of Health Management and Medical Informatics, Tabriz University of Medical Sciences, Tabriz, Iran
AUTHOR
Taha
Samad-Soltani
t-ssoltany@razi.tums.ac.ir
2
Medical Informatics, School of Health Management and Medical Informatics, Tabriz University of Medical Sciences, Tabriz, Iran
AUTHOR
Mahmood
Yousefi
mahmoodyousefi80@yahoo.com
3
Health Economics, School of Health Management and Medical Informatics, Tabriz University of Medical Sciences, Tabriz, Iran
AUTHOR
Habib
Sadr
habib.sadr@gmail.com
4
Psychiatrics, Fajr Hospital, Tabriz, Iran
AUTHOR
Peyman
Rezaei-Hachesu
5
Health Information Technology, School of Management and Medical Informatics, Road Traffic Injury Research Center, Tabriz University of Medical Sciences, Tabriz, Iran
LEAD_AUTHOR
ORIGINAL_ARTICLE
Assessment of Speech Sound Production by Story-retelling in Persian Speaking Children: Introducing a New Instrument
Background: Speech and language pathologists should include connected speech assessment as part of their evaluation for children with speech sound disorders. The purpose of the present study was to design and validate an instrument for assessment of articulation by story-retelling for Persian children.Methods: 261 typically developing children, aged 4-5 years old in Iran, Tehran, in 2016-2017, were recruited in the current study. First, two stories were designed. Next, the expert panel reviewed those two stories and selected one story for assessment. The strengths of the test for discriminating between the two age groups (48-54 months and 55-60 months) and between boys and girls were investigated for construct validity. Test-retest was performed for 15 children. Also, inter-rater reliability was evaluated via calculating the correlation between the two examiners’ scores. Statistical Package for Social Sciences (SPSS), version 24, was used for statistical analysis. The significance level was set at (P<0.05).Results: There was 80% or more agreement in experts’ response to questions regarding content validity. All of the reliability values were higher than 0.85. No significant difference was observed between boys and girls (P=0.77), but there was a significant difference between the two age groups (P<0.001). There was a significant correlation between this test and phonetic test of the Persian version of diagnostic articulation and phonology (r=0.62, P=0.002). Conclusion: The Persian story for the assessment of speech sound production is a reliable and valid instrument that can be used to evaluate the articulation of Persian children.
https://ijms.sums.ac.ir/article_44956_4d13a16e890d1d0350c455961a709bda.pdf
2019-07-01
299
306
10.30476/ijms.2019.44956
children
Assessment
Test
Persian
Articulation
Akram
Ahmadi
slp347@gmail.com
1
Department of Speech and Language Pathology, School of Rehabilitation Sciences, Iran University of Medical Sciences, Tehran, Iran
AUTHOR
Mohammad
Kamali
kamali.mo@iums.ac.ir
2
Department of Basic Sciences in Rehabilitation, School of Rehabilitation Sciences, Iran University of Medical Sciences, Tehran, Iran
LEAD_AUTHOR
Reyhane
Mohamadi
3
Department of Speech and Language Pathology, School of Rehabilitation Sciences, Iran University of Medical Sciences, Tehran, Iran
AUTHOR
Talieh
Zarifian
ta.zarifian@uswr.ac.ir
4
Department of Speech Therapy, University of Social Welfare and Rehabilitation Sciences, Tehran, Ira
AUTHOR
Abbas
Ebadi
newjalilian@gmail.com
5
Behavioral Sciences Research Center, Nursing Faculty, Baqiyatallah University of Medical Sciences, Tehran, Iran
AUTHOR
Mehdi
Dastjerdi Kazemi
dastjerdikazemi@gmail.com
6
Department of Psychology and Education of Exceptional Children, Allameh Tabataba’i University, Tehran, Iran
AUTHOR
Leila
Ghasisin
ghasisin@rehab.mui.ac.ir
7
Communication Disorders Research Center, Isfahan University of Medical Sciences, Isfahan, Iran
AUTHOR
ORIGINAL_ARTICLE
Validity and Reliability of Form C of the Multidimensional Health Locus of Control Scale in Pregnant Women
Background: The health locus of control (HLC) can indirectly determine the health status. The current study aimed to assess the validity and reliability of Form C of the Multidimensional Health Locus of Control (MHLC-C) scale in pregnant women.Methods: 554 pregnant women participated in this cross-sectional study conducted in 2017; they referred to community health centers affiliated with Mashhad and Gonabad Medical Sciences Universities. Multi-stage random sampling was done. In this study, first, the questionnaire was translated into Farsi; then, face validity and construct validity were done through exploratory factor analysis, and concurrent criterion validity was also examined. Moreover, the reliability was assessed through internal consistency and stability methods.Results: The results of the exploratory factor analysis showed that the MHLC-C scale consisted of four subscales, i.e. Chance, Internal, Other People, and Doctors, which accounted for 51.18% of variance. The results of the reliability analysis showed an acceptable internal consistency for the scale (Cronbach’s alpha coefficient for subscales from 0.62 to 0.90). Also, the test-retest results showed good stability for all subscales other than Doctors (P<0.05). The concurrent validity of Forms B and C of MHLC scale showed a positive and significant correlation between subscales.Conclusion: The results of this study showed that the MHLC-C scale had acceptable validity and reliability in pregnant women and is suggested as an applicable criterion for assessing individuals control beliefs with any medical or health-related condition in Iran.
https://ijms.sums.ac.ir/article_44957_b9a806b0e5c686cdde5ab1939dc44cf5.pdf
2019-07-01
307
314
10.30476/ijms.2019.44957
Validity
reliability
Internal-external control
Pregnancy
Marjan
Mirzania
m.mirzania2025@gmail.com
1
Department of Health Education and Promotion, School of Health, Social Development and Health Promotion Research Center, Gonabad University of Medical Sciences, Gonabad, Iran
AUTHOR
Abdoljavad
Khajavi
abjkhajavi@yahoo.com
2
Department of Social Medicine, School of Medicine, Gonabad University of Medical Sciences, Gonabad, Iran
AUTHOR
Mahdi
Moshki
drmoshki@gmail.com
3
Department of Health Education and Promotion, School of Health; Social Development and Health Promotion Research Center, Gonabad University of Medical Sciences, Gonabad, Iran
LEAD_AUTHOR
ORIGINAL_ARTICLE
Combination Effect of Caffeine and Caffeic Acid Treatment on the Oxidant Status of Ectopic Endometrial Cells Separated from Patients with Endometriosis
Background: Endometriosis is a common gynecological disease in which oxidative stress is a potential factor. Caffeine and caffeic acid are present in various foods and beverages with anti-oxidant, anti-inflammatory, and anti-carcinogenic properties. In this study, we aimed to investigate the ameliorative effects of caffeine, caffeic acid, and caffeine+caffeic acid treatments on oxidative stress in ectopic endometrial cells taken from patients and eutopic ones from women without endometriosis.Methods: In this experimental study, eutopic and ectopic endometrial cells were obtained from biopsies of women free of disease (n=10) and patients with endometriosis (n=10) who referred to Shiraz reference hospitals (2017-2018). Both eutopic and ectopic endometrial cells were divided into four groups: Treated with caffeine, with caffeic acid, with caffeine+caffeic acid, and the control. Also, antioxidant enzyme activities and the levels of glutathione (GSH) and malondialdehyde (MDA) were determined in each group. The data were analyzed using independent sample t test and one-way ANOVA followed by Tukey post-hoc test.Results: Caffeic acid, but not caffeine treatment demonstrated a decrease in MDA level (P<0.001) as well as an increase in GSH level (P<0.001) and antioxidant enzyme activities in ectopic endometrial cells. Also, the treatment of the cells with caffeine+caffeic acid caused similar effects as those ectopic cells treated with caffeic acid. Conclusion: According to the findings of the present study, caffeic acid reduced oxidative stress which may alleviate the complications associated with endometriosis. However, more investigations are needed for evaluating the efficiency and safety of caffeic acid.
https://ijms.sums.ac.ir/article_44970_5f7345db6a766bd197e82f1b10faa0dd.pdf
2019-07-01
315
324
10.30476/ijms.2019.44970
Endometriosis
Oxidative stress
Caffeine
Caffeic acid
Navid
Jamali
jamali_navid@yahoo.com
1
Biochemistry Department, School of Medicine, Shiraz University of Medical Sciences, Shiraz, Iran; and Student Research Committee, Shiraz University of Medical Sciences, Shiraz, Iran
AUTHOR
Zohreh
Mostafavi-Pour
zmostafavi@sums.ac.ir
2
Biochemistry Department, School of Medicine, Shiraz University of Medical Sciences, Shiraz, Iran; and Maternal-Fetal Medicine Research Center, Shiraz University of Medical Sciences, Shiraz, Iran
LEAD_AUTHOR
Fatemeh
Zal
fatemehzal@yahoo.com
3
Biochemistry Department, School of Medicine, Shiraz University of Medical Sciences, Shiraz, Iran; and Infertility Research Center, Shiraz University of Medical Sciences, Shiraz, Iran
AUTHOR
Maryam
Kasraeian
maryamkasraeian@gmail.com
4
Maternal-Fetal Medicine Research
Center, Shiraz University of Medical
Sciences, Shiraz, Iran; and Department of OB/GYN, School of
Medicine, Shiraz University of Medical
Sciences, Shiraz, Iran
AUTHOR
Tahereh
Poordast
ta.poordast@yahoo.com
5
Infertility Research Center, Shiraz University of Medical Sciences, Shiraz, Iran; and Department of OB/GYN, School of Medicine, Shiraz University of Medical Sciences, Shiraz, Iran
AUTHOR
Fatemeh
Ramezani
f_ramazani61@yahoo.com
6
Biochemistry Department, School of Medicine, Shiraz University of Medical Sciences, Shiraz, Iran; and Department of Molecular Medicine, Faculty of Advanced Medical Sciences, Tabriz University of Medical Sciences, Tabriz, Iran
AUTHOR
Razieh
Zare
razieh.zare@yahoo.com
7
Biochemistry Department, School of Medicine, Shiraz University of Medical Sciences, Shiraz, Iran
AUTHOR
ORIGINAL_ARTICLE
Negative Regulation of Semaphorin-3A Expression in Peripheral Blood Mononuclear Cells Using MicroRNA-497-5p
Background: Semaphorin-3A (Sema3A), as a secreted semaphorin, is an immune modulator molecule participating in the pathogenesis of autoimmune diseases. MicroRNAs (miRNAs) modulate the target-gene expression at the post-transcriptional level. It has been proposed that miRNAs may be crucial to the modulation of the function of semaphorins. Previous findings have proven that miR-497-5p is upregulated and Sema3A is downregulated in some autoimmune disorders. Thus, we aimed to examine the presence of any correlation between Sema3A and miR-497-5p in peripheral blood mononuclear cells (PBMCs). Methods: PBMCs were cultured and transfected with miR-497-5p mimic using the X-tremeGENE™ reagent. The expression level of Sema3A was assessed after 48 hours in supernatants and cells via the enzyme-linked immunosorbent assay and quantitative real-time polymerase chain reaction, respectively. Cell viability was evaluated using the methylthiazol tetrazolium assay. All the experiments were done in triplicate, and the statistical analyses were performed with SPSS, version 20. P values equal to or less than 0.05 were considered significant.Results: We observed downregulation of the Sema3A gene (P=0.0001) and its secretion (P=0.032) in the PBMCs through miR-497-5p transfection. Moreover, transfection with miR-497-5p mimic and downregulation of Sema3A did not affect the viability of the PBMCs (P=0.061).Conclusion: Based on the obtained results, we suggest that miR-497-5p has a high suppressive effect on Sema3A expression and both Sema3A and miR-497-5p can be considered critical targets for further studies on future therapeutic attempts for the treatment of autoimmune diseases such as multiple sclerosis and rheumatoid arthritis.
https://ijms.sums.ac.ir/article_44955_601b26541cf1caf899f855ce6d2e051c.pdf
2019-07-01
325
333
10.30476/ijms.2019.44955
autoimmune disease
MicroRNAs
Mononuclear phagocyte system
Semaphorin-3A
Shima
Shapoori
shimashapoori@yahoo.com
1
Department of Immunology, Faculty of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran
AUTHOR
Mazdak
Ganjalikhani-Hakemi
mghakemi@yahoo.com
2
Department of Immunology, Faculty of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran
LEAD_AUTHOR
Mahsa
Rezaeepoor
mahsa_rezaeepoor@yahoo.com
3
Department of Immunology, Faculty of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran
AUTHOR
Fereshteh
Alsahebfosoul
alsahebfosoul@med.mui.ac.ir
4
Department of Immunology, Faculty of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran
AUTHOR
Sharifeh
Khosravi
sharifeh.khosravi@yahoo.com
5
Department of Genetics, Faculty of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran
AUTHOR
Masoud
Etemadifar
etemadifar@med.mui.ac.ir
6
Multiple Sclerosis and Neuroimmunology Research Center, Isfahan University of Medical Sciences, Isfahan, Iran
AUTHOR
Marjan
Mansourian
jmansourian@gmail.com
7
Department of Biostatistics and Epidemiology, Faculty of Health,
Isfahan University of Medical Sciences, Isfahan, Iran
AUTHOR
ORIGINAL_ARTICLE
Conditioned Medium from Cultured Colorectal Cancer Cells Affects Peripheral Blood Mononuclear Cells Inflammatory Phenotype in Vitro
Background: Colorectal cancer (CRC) is the third most common cancer worldwide. Studies have indicated that immune cells and soluble factors play a key role in maintaining the balance between tumor-promoting inflammation and anti-tumor immunity. It has been shown that secreted cytokines from CRC cell lines could affect peripheral blood mononuclear cells (PBMCs), monocytes, and macrophages phenotypes. Macrophage infiltration has been associated with good prognosis in some cancers, but with poor prognosis in others. The present study aimed to evaluate the effect of conditioned media from CRC cells (Caco-2) on immune responses produced by PBMCs. Methods: The present study was performed at the Gastroenterology and Liver Diseases Research Institute, Shahid Beheshti University of Medical Sciences (Tehran, Iran) in 2017. Human monocytes were isolated from PBMCs by Ficoll gradient media. The co-culture of monocytes and Caco-2 conditioned media was carried out. RNA extraction and cDNA synthesis of monocytes were performed after 96 hours. Gene expression of pro- and anti-inflammatory cytokines was evaluated by real-time PCR. Statistical analysis was performed using the SPSS software (version 21.0) with the independent sample t test. P
https://ijms.sums.ac.ir/article_44959_b39b0e2e29be42c6342e73469b47b85a.pdf
2019-07-01
334
341
10.30476/ijms.2019.44959
Monocytes
macrophages
Cytokines
Colorectal neoplasms
Caco-2 cells
Bahareh
Mohebbi
bahareh.mohebbi.14@gmail.com
1
Department of Genetics, Tehran Medical Sciences Branch, Islamic Azad University, Tehran, Iran; and Basic and Molecular Epidemiology of Gastrointestinal Disorders Research Center, Research Institute for Gastroenterology and Liver Diseases, Shahid Beheshti University of Medical Sciences, Tehran, Iran
AUTHOR
Kaveh
Ashtibaghaei
kaveh.baghaie@gmail.com
2
Basic and Molecular Epidemiology of Gastrointestinal Disorders Research Center, Research Institute for Gastroenterology and Liver Diseases, Shahid Beheshti University of Medical Sciences, Tehran, Iran
LEAD_AUTHOR
Mehrdad
Hashemi
mhashemi@iautmu.ac.ir
3
Department of Genetics, Tehran Medical Sciences Branch, Islamic Azad University, Tehran, Iran
AUTHOR
Mahmoud
Hashemi
hashemim931@gmail.com
4
Department of Immunology, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran
AUTHOR
Hamid
Asadzadeh Aghdaei
asadzadehaghdaei@gmail.com
5
Department of Genetics, Tehran Medical Sciences Branch, Islamic Azad University, Tehran, Iran
AUTHOR
Mohammad Reza
Zali
rezazali449@gmail.com
6
Gastroenterology and Liver Diseases Research Center, Research Institute for Gastroenterology and Liver Diseases, Shahid Beheshti University of Medical Sciences, Tehran, Iran
AUTHOR
ORIGINAL_ARTICLE
A Rare Presentation of Multiple Myeloma: A Case Report of Hepatic Amyloidosis
The clinically reported case of liver involvement with multiple myeloma (MM) is rare. Amyloidosis, defined as a tissue deposition of clonal light-chain fibrils, has been reported in 10-15% of the MM patients. We described a rare MM patient with the primal presentation of fulminant hepatic failure and biliary system involvement due to amyloidosis. Our patient had the primal symptoms of hyperbilirubinemia, ascites, hepatosplenomegaly, and anemia. Chemotherapy with a standard regimen containing bortezomib, thalidomide, and dexamethasone was implemented and led to a dramatic response. Liver involvement due to light chain amyloidosis can be the first drastic presentation of MM. It is important to consider infiltrative disorders, like MM and amyloidosis, when patients present non-specific symptoms and impaired liver function tests. Proper and timely diagnosis can directly affect the prognosis of patients. The optimal approach in the standard management of similar cases is still a matter of debate.
https://ijms.sums.ac.ir/article_44953_42cf3c3a51e545a61c46fd7c32308e6a.pdf
2019-07-01
342
346
10.30476/ijms.2019.44953
Liver failure
Multiple myeloma
Amyloidosis
Hyperbilirubinemia
Alireza
Sadeghi
sadeghi_hem@yahoo.com
1
Department of Internal Medicine, Faculty of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran
AUTHOR
Maliheh
Nejati
malihehnejati@gmail.com
2
Department of Clinical Pharmacy, Isfahan University of Medical Sciences, Isfahan, Iran
AUTHOR
Azadeh
Moghaddas
azadeh_moghaddas@yahoo.com
3
Department of Clinical Pharmacy, Faculty of Pharmacy, Isfahan University of Medical Sciences, Isfahan, Iran
LEAD_AUTHOR
ORIGINAL_ARTICLE
Microduplication of Xp22.31 and MECP2 Pathogenic Variant in a Girl with Rett Syndrome: A Case Report
Rett syndrome (RS) is a neurodevelopmental infantile disease characterized by an early normal psychomotor development followed by a regression in the acquisition of normal developmental stages. In the majority of cases, it leads to a sporadic mutation in the MECP2 gene, which is located on the X chromosome. However, this syndrome has also been associated with microdeletions, gene translocations, and other gene mutations.A 12-year-old female Colombian patient was presented with refractory epilepsy and regression in skill acquisition (especially language with motor and verbal stereotypies, hyperactivity, and autistic spectrum disorder criteria). The patient was born to non-consanguineous parents and had an early normal development until the age of 36 months. Comparative genomic hybridization array-CGH (750K) was performed and Xp22.31 duplication was detected (6866889-8115153) with a size of 1.248 Mb associated with developmental delay, epilepsy, and autistic traits. Given the clinical criteria of RS, MECP2 sequencing was performed which showed a de novo pathogenic variant c.338C>G (p.Pro113Arg).The features of RS include intellectual disability, developmental delay, and autism. These features are associated with copy number variations (CNVs) on the X chromosome (Xp22.31 microduplication). Here we present the first reported case of simultaneous CNV and MECP2 pathogenic mutation in a patient with RS. We propose that both DNA alterations might have a synergistic effect and could lead to variable expressivity of the phenotype.
https://ijms.sums.ac.ir/article_44945_4f890fa69883ee7631610f8b3b7db657.pdf
2019-07-01
347
353
10.30476/ijms.2019.44945
X-linked genetic disease
DNA copy number variations
Autism
Rett syndrome
Exome sequencing
Estephania
Candelo
ecandelo@icesi.edu.co
1
Center for Research on Congenital Anomalies and Rare Diseases (CIACER), Health Sciences Faculty, L Building, Universidad Icesi, Cali, Colombia
AUTHOR
Diana
Ramirez-Montaño
2
Center for Research on Congenital Anomalies and Rare Diseases (CIACER), Health Sciences Faculty, L Building, Universidad Icesi, Cali, Colombia
AUTHOR
Harry
Pachajoa
hmpachajoa@icesi.edu.co
3
Center for Research on Congenital Anomalies and Rare Diseases (CIACER), Health Sciences Faculty, L Building, Universidad Icesi, Cali, Colombia; and Department of Genetics, Fundación Valle del Lili, Cali, Colombia
LEAD_AUTHOR