126 research outputs found

    The CYP17 MSP AI (T-34C) and CYP19A1 (Trp39Arg) variants in polycystic ovary syndrome: A case-control study

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    Background: Polycystic ovary syndrome (PCOS) is a common and chronic disorder of endocrine glands where genetic factors play a major role in the susceptibility to the disease. The cytochrome (CYP) 17 enzyme is essential for androgens biosynthesis. Also, the CYP19 enzyme converts the androgens to the aromatic estrogens.Objective: We aimed to investigate the association of CYP 17 MSP AI (T-34C) and CYP 19A1 (Trp39Arg) variants with the pathogenesis of PCOS in a population from Western Iran with Kurdish ethnic background.Materials and Methods: The present case-control study consisted of 50 patients with PCOS and 109 controls. The CYP17 T-34C and CYP19A1 (Trp39Arg) polymorphisms were identified by polymerase chain reaction-restriction fragment length polymorphism. The serum lipid and lipoprotein profile were detected by the Bionic Diagnostic Kits. Estradiol, dehydroepiandrosterone (DHEA), and sex hormone-binding globulin (SHBG) levels were measured using the chemiluminescent method.Results: The serum levels of estradiol and SHBG in PCOS patients were lower than controls (p < 0.001 and p =0.06, respectively). However, the level of DHEA was higher (p= 0.01) in patients compared to controls. The higher frequency of CYP17 TC genotype in patients (30%) compared to controls (15.6%) was associated with 2.31-fold susceptibility to PCOS (p = 0.038). The frequency of CYP19 TC genotype was 6.4% in controls and10% in patients (p = 0.42).Conclusion: The present study suggests that CYP17 TC genotype could be associated with the risk of PCOS. Also, the study indicated the sex steroid hormones level alteration and the lower level of SHBG in PCOS patients compared to healthy individuals

    Iranian students' attitudes towards the facilitative and debilitative role of code-switching; types and moments of code-switching at EFL classroom

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    Recently, the use of language learners' mother tongue, code-switching, alongside English in EFL classrooms has received considerable attention. The main objectives of this study were to present the results of a qualitative study which investigated the types and functions of code-switching at an intermediate English Proficiency level in EFL classrooms. Moreover, gender preferences were investigated. To this end, 50 hours of four class performances were observed, audio-recorded and analyzed to answer the proposed research questions. The results of this study suggested that teachers applied code-switching more frequently when they tried to give Persian equivalents of English words and expressions. It should be pointed out that the application of intersentential code-switching turned out to be more salient among both teachers and students. Code-switching was more frequent while students were carrying out the assigned tasks. Male students switched when they said humorous remarks while their female classmates switched more frequently when they asked and/or gave L1 equivalents.  Filling in the attitude questionnaire, the majority of students believed that in several cases neither teachers nor students should apply Persian as much as possible, even though it facilitated their interactions

    Sickle Cell Disease and Venous Thromboembolism

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    Hemoglobin S in homozygous state or in combination with one of the structural variants of Hb D-Punjab, Hb O-Arab, Hb C or β-thalassemia mutation results in sickle cell disease (SCD) that is characterized by chronic hemolytic anemia and tissue injury secondary to vasooclusion. A chronic hypercoagulable state in SCD has been established with the increased risk of thromboembolic complications in these patients. The goal of present review is to survey of the literature related to thromboembolic events and genetic risk factors involved in the manifestation of these events in SCD patients with focus on studies from Mediterranean countries. Also, this review covers the pathogenesis of hypercoagulability and alteration in the components of hemostasis system

    Performance evaluation of single stand and hybrid solar water heaters: A comprehensive review

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    In this review, flat plate and concentrate-type solar collectors, integrated collector–storage systems, and solar water heaters combined with photovoltaic–thermal modules, solar-assisted heat pump solar water heaters, and solar water heaters using phase change materials are studied based on their thermal performance, cost, energy, and exergy efficiencies. The maximum water temperature and thermal efficiencies are enlisted to evaluate the thermal performance of the different solar water heaters. It is found that the solar water heaters’ performance is considerably improved by boosting water flow rate and tilt angle, modification of the shape and number of collectors, using wavy diffuse and electrodepositioned reflector coating, application of the corrugated absorber surface and coated absorber, use of turbulent enhancers, using thermal conductive working fluid and nanofluid, the inclusion of the water storage tank, and tank insulation. These items increase the heat transfer area and coefficient, thermal conductivity, the Reynolds and Nusselt numbers, heat transfer rate, and energy and exergy efficiencies. The evacuated tube heaters have a higher temperature compared to the collectors with a plane surface. Their thermal performance increases by using all-glass active circulation and heat pipe integration. The concentrative type of solar water heaters is superior to other solar heaters, particularly in achieving higher water temperatures. Their performance improves by using a rotating mirror concentrator. The integration of the system with energy storage components, phase change materials, or a heat pump provides a satisfactory performance over conventional solar water heaters

    Fractionated CO2 Laser in the Treatment of Striae Alba in Darker Skinned Patients - A Prospective Study

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    Introduction: In recent years, the positive effect of fractional CO2 laser on increasing collagen fibers, and consequently its effect on treating striae has been suggested. The present study aims to assess the effectiveness of CO2 fractional laser 10600-nm in the treatment of striae alba.Methods: In this prospective clinical trial, 2 treatment sessions of fractional CO2 laser with 4-week interval was given to 30 patients with striae alba. Cutaneous resonance running time (CRRT) was measured at baseline and at week 4 and 3 months after the last session of laser therapy. The level of improvement was assessed by 2 independent dermatologists and patients after 3 months of follow up.Results: 16.7% of patients had moderate improvement, 63.3% had minimal improvement, and 20% had no improvement. A statistical significant difference was found in median CRRT during the study (P < 0.0001). The median CRRT levels were significantly higher in week 4 and 3 months after the last treatment compared to the baseline (both P < 0.001). Likewise, a significant increase was observed in median CRRT level from week 4 till the end of study (P < 0.001). Evaluation of participant satisfaction revealed that 10% were very satisfied, 10% satisfied, 3.3% slightly satisfied, and 76.7% unsatisfied.Conclusion: Striae alba remain a challenging condition to treat. The treatment of striae alba with CO2 fractional laser results in minimal improvement with mild side effects

    Comparison of Predictor of Desaturation Disorders and Daytime Sleepiness Based On Epworth Sleepiness Scale and STOP-BANG Questionnaires in Mild to Moderate Obstructive Sleep Apnea Patients

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    BACKGROUND: Obstructive sleep apnea (OSA) is characterised by recurrence in upper airway obstruction during sleep. AIM: This study aimed to compare the predictive values of the Epworth Sleepiness Scale (ESS) and STOP-BANG in the desaturation of patients with mild to moderate obstructive apnea based on the apnea-hypopnea index (AHI) scale. METHODS: A group of 79 patients (43 male and 36 female) were selected. The suspected patients were introduced to the sleep clinic, and the ESS and STOP-BANG questionnaires were filled up, then subjected to polysomnography test, and the scores of the disease were also determined based on an apnoea-hypopnoea index (AHI). Finally, the desaturation rate (SO2 < 3% based on the baseline) and desaturation index were determined in patients. Consequently, the finding was compared with the results of the questionnaires. RESULTS: Patients with STOP-BANG score above 3 had significantly higher weight, oxygen desaturation index (ODI) index and average desatu, while peripheral capillary oxygen saturation (SpO2) base and average SpO2 were lower than those with scores below 3 (P < 0.05). However, there was no significant difference between the patients with the ESS questionnaire score above 10 and below 10 (P > 0.05). CONCLUSION: The results of these two questionnaires reflect the unsaturated oxygen index in the blood, and can be considered for the evaluation of the severity of the disease

    “Do the editors-in-chief of Iranian medical journals have a good Knowledge, attitude and practice of plagiarism?”

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    Plagiarism is one of the misconducts which are specifically observed in scientific journals. It is important to prevent and reduce it in scientific communities. The chief editors of journals can play an effective role in this regard. Therefore, this study aims to determine the knowledge, attitude, and the practice (KAP) of the chief editors of scholarly journals in Universities of Iran about plagiarism. The data for this descriptive survey were collected through a researcher-made questionnaire which was developed and validated in three sections of knowledge, attitude, and practice. The statistical population of the study included all the chief editors of scholarly journals in Universities of Medical Sciences in Tehran. The scores of the editors were calculated separately in each section. The data collection procedure was followed either by email or in-person. The collected data were analyzed through SPSS. The chief editors’ score is %88.8 in the section of “knowledge of plagiarism” which represents a high score. The chief editors’ “attitude toward plagiarism” indicates a high level (%61.3), which represents a negative attitude of plagiarism, and their “practice” is also at a mid-level approaching towards high level. In general, the knowledge, attitude, and practice of chief editors about plagiarism are in a better status comparing to similar studies. However, it is expected that the editors in chief achieve a more favorable level in this regard

    Chitotriosidase Activity and Gene Polymorphism in Iranian Patients with Gaucher Disease and Sibling Carriers

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    How to Cite This Article: Mozafari H, Taghikhani M, Khatami Sh, Alaei MR, Vaisi-Raygani A, Rahimi Z. Chitotriosidase Activity and Gene Polymorphism in Iranian Patients with Gaucher Disease and Sibling Carriers. Iran J Child Neurol. Autumn 2016; 10(4):62-70.AbstractObjectiveChitotriosidase (CT) activity is a useful biomarker for diagnosis and monitoring of Gaucher disease (GD). Its application is limited by some variants in the CT gene. Two main polymorphisms are 24 bp duplication and G102S led to reduce CT activity. The aim of this study was to determine these variants influencing on plasma CT activity. Materials & MethodsBlood samples were collected from 33 patients with GD, 15 sibling carriers and 105 healthy individuals serving as controls. CT activity was measured using 4-methylumbelliferyl-β-D-N,N′,N″triacetylchitotrioside substrate in plasma samples. The CT genotypes of 24 bp duplication and G102S variants were determined using PCR and PCR-RFLP. ResultsUntreated GD patients had a significantly higher CT activity compared to treated patients (P = 0.021). In addition, chitotriosidase activity in carriers was higher rather than controls. Allele frequencies of 24 bp duplication in GD patients, sibling carriers and controls were 0.21, 0.266 and 0.29 and for G102S were 0.318, 0.366 and 0.219, respectively. Different G102S genotypes had not significant effect on CT activity. Chitotriosidase activity has a positive correlation with age in normal group, carriers, and negative correlation with hemoglobin in GD patients. Using cut-off level of 80.75 nmol/ml/h, sensitivity and specificity of CT activity were 93.9% and 100%, respectively. ConclusionChitotriosidase activity is a suitable biomarker for diagnosis and monitoring of GD. Determination of 24 bp duplication is helpful for more accurate monitoring the GD patient’s therapy. However, it seems that, specifying of the G102S polymorphism is not required for Iranian GD patients. References1. Bennett LL, Mohan D. Gaucher disease and its treatment  options. Ann Pharmacother 2013;47(9):1182-93.2. Shrestha B, Devgan A, Sharma M. Gaucher’s disease: rare presentation of a rare disease. J Child Neurol 2013;28(10):1296-8.3. Kanneganti M, Kamba A, Mizoguchi E. Role of chitotriosidase (chitinase 1) under normal and disease conditions. J Epithel Biol Pharmacol 2012;5:1-9.4. Adly AA, Ismail EA, Ibraheem TM. Macrophagederived soluble CD163 level in young patients with Gaucher disease: relation to phenotypes, disease severity and complications. Int Immunopharmacol 2015;24(2):416-22.5. Irún P, Alfonso P, Aznarez S, Giraldo P, Pocovi M.Chitotriosidase variants in patients with Gaucher disease.  Implications for diagnosis and therapeutic monitoring. Clin Biochem 2013;46(18):1804-7.6. Grace ME, Balwani M, Nazarenko I, Prakash- Cheng A, Desnick RJ. Type 1 Gaucher disease: null and hypomorphic novel chitotriosidase mutationsimplications for diagnosis and therapeutic monitoring. Hum Mutat 2007;28(9):866-73.7. Woo KH, Lee BH, Heo SH, Kim JM, Kim GH, Kim YM, et al. Allele frequency of a 24 bp duplication in exon 10 of the CHIT1 gene in the general Korean population and in Korean patients with Gaucher disease. J Hum Genet 2014;59(5):276-9.8. Wajner A, Michelin K, Burin MG, Pires RF, Pereira ML, Giugliani R, et al. Comparison between the biochemical properties of plasma chitotriosidase from normal individuals and from patients with Gaucher disease, GM1-gangliosidosis, Krabbe disease and heterozygotes for Gaucher disease. Clin Biochem 2007;40(5-6):365-9.9. Rosén C, Andersson CH, Andreasson U, Molinuevo JL, Bjerke M, Rami L, et al. Increased Levels of Chitotriosidase and YKL-40 in Cerebrospinal Fluid from Patients with Alzheimer’s Disease. Dement Geriatr Cogn Dis Extra 2014;31;4(2):297-304.10. Malaguarnera L. Chitotriosidase: the yin and yang. Cell Mol Life Sci 2006;63(24):3018-29.11. Pagliardini V, Pagliardini S, Corrado L, Lucenti A, Panigati L, Bersano E, et al. Chitotriosidase and lysosomal enzymes as potential biomarkers of disease progression in myotrophic lateral sclerosis: A survey clinic-based study. J Neurol Sci 2015;15;348(1-2):245-50.12. Fusetti F, von Moeller H, Houston D, Rozeboom HJ, Dijkstra BW, Boot RG, et al. Structure of human chitotriosidase. Implications for specific inhibitor design and function of mammalian chitinase-like lectins. J Biol Chem 2002;277:25537–25544.13. Sista RS, Wang T, Wu N, Graham C, Eckhardt A, Bali D, et al. Rapid assays for Gaucher and Hurler diseases in dried blood spots using digital microfluidics. Mol Genet Metab 2013;109(2): 218–220.14. Hollak CE, van Weely S, van Oers MH, Aerts JM. Marked elevation of plasma chitotriosidase activity. A novel hallmark of Gaucher disease. J Clin Invest 1994;93(3):1288–1292.15. Old JM, Higgs DR. Gene analysis. In: Weatherall DJ, editor. Methods in hematology. The thalassemias. Vol. 6. London: Churchill Livingstone; 1983. pp.74 – 101.16. Sinha S, Singh J, Jindal SK, Birbian N, Singla N. Association of 24 bp duplication of human CHIT1 gene with asthma in a heterozygous population of north India: a case-control study. Lung 2014;192(5):685-91.17. Manno N, Sherratt S, Boaretto F, Coico FM, Camus CE, Campos CJ, et al. High prevalence of chitotriosidase  deficiency in Peruvian Amerindians exposed to chitinbearing food and enteroparasites. Carbohydr Polym 2014;26;113:607-14.18. Adelino TE, Martins GG, Gomes AA, Torres AA, Silva DA, Xavier VD, et al. Biochemical and Molecular Chitotriosidase Profiles in Patients with Gaucher Disease Type 1 in Minas Gerais, Brazil: New Mutation in CHIT1 Gene. JIMD Rep 2013;9:85-91.19. van Dussen L, Hendriks EJ, Groener JE, Boot RG, Hollak CE, Aerts JM. Value of plasma chitotriosidase to assess non-neuronopathic Gaucher disease severity and progression in the era of enzyme replacement therapy. J Inherit Metab Dis 2014;37(6):991-1001.20. Weinreb NJ, Aggio MC, Andersson HC, Andria G, Charrow J, Clarke JT, et al. Gaucher disease type 1: revised recommendations on evaluations and monitoring for adult patients. Semin Hematol 2004;41:15–22.21. Czartoryska B, Tylki-Szymańska A, Górska D. Serum chitotriosidase activity in Gaucher patients on enzyme replacement therapy (ERT). Clin Biochem 1998;3(5):417-20.22. Arndt S1, Hobbs A, Sinclaire I, Lane AB. Chitotriosidase deficiency: a mutation update in an african population. JIMD Rep 2013;10:11-6.23. Lee P, Waalen J, Crain K, Smargon A, Beutler E. Human chitotriosidase polymorphisms G354R and A442V associated with reduced enzyme activity. Blood Cells Mol Dis 2007;39(3):353-60.24. Chien YH, Chen JH, Hwu WL. Plasma chitotriosidase activity and malaria. Clin Chim Acta 2005 ;353(1-2):215 25. Bussink AP, Verhoek M, Vreede J, Ghauharalivan der Vlugt K, Donker-Koopman WE, Sprenger RR, et al. Common G102S polymorphism in chitotriosidase differentially affects activity towards 4-methylumbelliferyl substrates. FEBS J 2009;276(19):5678-88.26. Aerts JM, Kallemeijn WW, Wegdam W, Joao Ferraz M, van Breemen MJ, Dekker N, et al. Biomarkers in the diagnosis of lysosomal storage disorders: proteins, lipids, and inhibodies. J Inherit Metab Dis 2011;34(3):605-19.27. Giraldo P, Cenarro A, Alfonso P, Pérez-Calvo JI, Rubio- Félix D, Giralt M, et al. Chitotriosidase genotype and plasma activity in patients type 1 Gaucher’s disease and their relatives (carriers and non carriers). Haematologica 2001;86(9):977-84.28. Pocovi M, Cenarro A, Civeira F, Torralba MA, Perez- Calvo JI, Mozas P, et al. Beta-glucocerebrosidase gene locus as a link for Gaucher’s disease and familial hypoalpha- lipoproteinaemia. Lancet 1998;351(9120):1919-23.29. Fluiter K, van der Westhuijzen DR, van Berkel TJ. 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    Effectiveness of an operating room master of science program based on Kirkpatrick’s model

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    Background: Evaluation is one of the most critical issues in the training process. Kirkpatrick’s model is one method in educational evaluation that can accurately evaluate programs. This study aimed to evaluate the effectiveness of an operating room master of scienc (MS) program om based on Kirkpatrick’s model. Methods: This descriptive, cross-sectional study was conducted using convenience sampling with 46 students and graduates from the operating room MS degree at the Shiraz University of Medical Sciences in the academic year 2020-2021. A valid and reliable questionnaire with 47 items in three levels of reaction, learning, and performance was used to evaluate the opinions of graduates and students. The survey was sent to their email addresses and returned to the researcher after completion. Results: Kirkpatrick’s evaluation model showed that the overall evaluation of the operating room program was 70.97±9.32, which can be considered a moderate level. Students’ satisfaction with the program was moderate (68.00±14.97); their learning (84.54±15.69) and performance (84.30±9.28) were evaluated to be at a reasonable level. Conclusion: Considering the average effectiveness of the whole program, it is suggested that the educational managers of the operating room department plan and attempt to increase their indicators by considering the weaknesses and strengths of the program
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