Search

Background: Bone Morphogenetic Proteins and the related Growth and Differentiation Factors (GDFs) are much conserved signaling proteins. GDF5 is pivotal for skeletal development. Several skeletal dysplasia and malformation syndromes are known as a result of mutations in GDF5 . Multiple Synostosis Syndrome2 (SYNS2) is characterized by tarsal-carpal coalition, humeroradial synostosis, brachydactyly, and proximal symphalangism. In this study, we analyzed a large Iranian pedigree affected with a new type of SYNS2 (Farhud Type) in five successive generations., Methods: In this family-based study (1982-2022), Genetic linkage analysis of the pedigree (58affected, 62healthy) excluded the locus on chromosome 17q21-q22 in our previous study. Thus, we focused on 20q11.22 locus and GDF5 gene. Genetic investigations were performed on 16 patients with SYNS2 and 40 healthy individuals., Results: Whole-exome-sequencing results identified a heterozygote missense mutation in exon2 of GDF5 (NG_008076.1:g.9239G>A, NM_000557.2:c.1424G>A, S475N, rs121909347). This mutation was found in all patients but not in the unaffected individuals. This missense mutation is notable because S475 is strictly conserved among different species, and it is located in a highly conserved and active mature domain of GDF5 (phyloP100way=7.64). The corresponding defect in GDF5 may have unknown interaction with normal active 3 rd and 4 th structure of the product. Further bioinformatics study (amino acid multiple alignments) showed that the S475 is a much-conserved residue in many different species., Conclusion: These results introduce a new role of GDF5 in pathogenesis of a SYNS2 (Farhud Type), considered in genetic counseling, prenatal diagnosis, and as a potential target for molecular therapy, if possible., (Copyright© 2024 Farhud et al. Published by Tehran University of Medical Sciences.)

Background: We aimed to investigate two polymorphisms, rs8106922 and rs157580 of TOMM40 in Alzheimer's disease (AD)., Methods: In the present case-control research, we collected blood samples from 117 AD patients and 130 controls from Alzheimer's Hospital, residents of Tehran, Iran during the winter 2020 to autumn 2022. Following extraction of DNA, Genotyping of TOMM40 polymorphisms rs8106922 and rs157580 were examined by sequencing and ARMS/PCR approaches. We compared distributions of genotypes in both patient and healthy groups using the Chi-Square test., Results: Regarding rs157580, a statistically significant difference was observed in the GA genotype frequency between patient and healthy groups, in both univariate and multivariate modes with these results that have come respectively, and it can be regarded as a protection factor P <0.05).. No significant difference was observed in the frequency of A and G alleles between patient and healthy groups. Besides, concerning rs8106922, the AG genotype frequency in research groups in both univariate and multivariate cases, with these results that have come respectively was significantly different ( P =0.003) & ( P =0.009). Regarding GG genotype, a statistically significant difference was observed between the patient and healthy groups in both univariate and multivariate cases, respectively ( P =0.419) & ( P =0.425). Significant differences were observed in the G allele frequency for rs8106922 in the healthy and patient groups ( P =0.007), it can be regarded as a potential protective factor., Conclusion: It is possible to consider the TOMM40 gene as one of the potential genes concerning Alzheimer's disease., (Copyright© 2024 Hajilou et al. Published by Tehran University of Medical Sciences.)

Background: Applying modern educational methods for digital native students seems necessary. Active learning strategies promote students' skills and knowledge. This study was conducted to design and evaluate active learning methods by teaching psychopharmacotherapy to pharmacy students., Methods: This was a quasi-experimental study with three randomized study groups (control, game, and multimedia), using a pre-and post-test design, conducted on 155 students of 5-year pharmacy in 2022 at the Faculty of Pharmacy of Tehran University of Medical Sciences, Iran. Overall, 18 clinical cases were designed for the basic structure of interventions. After teaching psychopharmacotherapy contents through lecturing, the pre-test was held. The next steps were playing the educational game, studying the multimedia case-based learning files, and then completing questionnaires, respectively. Then, a post-test was held., Results: 65.33% of participants were female and 34.66% were male. The pre-test and post-test scores comparison showed no difference in control group ( P =0.409). However, in the serious game and multimedia groups, the average score of pre-test and post-test had a statistically significant difference ( P <0.001, P =0.002 respectively), this difference was higher in the serious game group. Questionnaire evaluation showed substantial differences between game and multimedia groups., Conclusion: The educational interventions were able to improve student's knowledge and skills so they can better help patients and promote public health. In the sections of Confidence, Social Interactions, Fun, Focused attention, Learnability, Relevance, and Perceived Learning, the serious game far outweighed the multimedia case-based learning., (Copyright© Zarif-Yeganeh et al. 2024 Published by Tehran University of Medical Sciences.)

Holoprosencephaly, a complicated brain abnormality arising from incomplete prosencephalon cleavage, affects both the forebrain and the face. Holoprosencephaly Type 11, with variable expression or partial penetrance, is caused by CDON pathogenic variants associated with the disrupted Sonic Hedgehog ( SHH )-pathway. Herein, we aimed to describe a family with genetic nose problems. After counselling and drawing pedigree in Farhud's Genetic Clinic, Tehran, Iran in 2021, DNA extraction of a proband and a few members of his family (patient and control) was conducted. Whole exome sequencing was utilized for detecting the gene and its variant in the proband with a nose deformity. The results were confirmed with Sanger sequencing. This variant was checked in other members by Sanger sequencing. Analysis of the Exome data showed a heterozygous splicing variant in the CDON gene (NM&#95;016952; c.3276+1G>T) in the proband who had a nose deformity and then the results were confirmed with Sanger sequencing. Such a variant was observed in Proband's brother with a nose deformity and was not observed in Proband's cousin with no abnormal phenotype. Recent investigations, in an Iranian family, with a heterozygous splicing CDON mutation as a human candidate gene are discussed for the first time in relation to the likely pathogenesis of facial deformities, particularly nose deformity, in Holoprosencephaly., (Copyright© 2024 Farhud et al. Published by Tehran University of Medical Sciences.)

Background: Medullary Thyroid Cancer (MTC) is a very aggressive type of thyroid carcinoma. Mutation in RET proto-oncogene is demonstrated in MTC development. We aimed to knock-out of RET -oncogene using CRISPR/Cas9 genome editing method in MTC cell-lines., Methods: This research was conducted in Shahid Beheshti University of Medical Sciences, Tehran, Iran during 2019-2020. Four different sgRNAs were designed to target exons one, two, and four of RET -oncogene in TT and MZ-CRC-1 cell-lines using bioinformatics tools, then the CRISPR/Cas9 constructs was made. About 72-hours after cell transfection, T7EI method and DNA sequencing were used to confirm the knock-out of RET- oncogene. Expression of RET , Calcitonin genes and RET protein were evaluated by Real-time PCR and ELISA, respectively., Results: The results of T7E1, and DNA sequencing of transfected cells confirmed RET gene knock-out by CRISPR/Cas9. There was a significant decrease in RET gene expression and RET protein in transfected TT and MZ cells compared to controls. The rate of cell apoptosis in transfected cells was significantly increased. Calcitonin gene expression was also significantly reduced in transfected cells. p-RET, p-PI3K, p-AKT, p-MEK, p-ERK protein levels were significantly reduced in TT and MZ transfected cells., Conclusion: For the first time, knock-out of RET gene was performed and confirmed using CRISPR/Cas9. Inhibition of this gene leads to inhibition of the tyrosine kinase RET signal transduction pathway. Therefore, it can be one of the most effective and specific therapeutic goals in the field of Personalized Medicine in the treatment of diseases caused by over activity of RET molecular pathway., Competing Interests: Conflict of interest The authors declare that there is no conflict of interests., (Copyright © 2022 Zarif-Yeganeh et al. Published by Tehran University of Medical Sciences.)

Background: Calcium is a necessary mineral for life to keep the body and bones healthy. Various factors including hormones, diet, age, and gender affect serum calcium status. The aim of this sturdy was to assess the serum calcium level (SCL) of Tehran population, which has about 10 million multi-Ethnic populations and represents from the whole country., Methods: In this retrospective study, the measured SCL of 105,128 individuals referred to different laboratories of Tehran, Iran were evaluated and its relationship with the age, gender, seasons, and different years during 2009-2018, were analyzed., Results: After excluding outliers, 91,257samples remained, which 61162 (58.64%) and 30,095 (41.36%) were female and male, respectively. The mean SCL was 9.36 (9.35, 9.37) mg/dl (95%CI). The highest and lowest SCLs were 3.1 and 18.2mg/dl, respectively. From the total study population, 74127 (81.23%) had normal SCLs, 14110 (15.46%) had hypocalcemia, and 3020 (3.31%) had hypercalcemia. SCLs were normal in 83.6% of men and 79.66% of women. Women had a significantly higher frequency of hypocalcemia compared to men (17.2% vs. 12.83%, p<0.0001)., Conclusion: Normal and abnormal SCLs were significantly different in age groups and in both genders. It means that gender and age affect SCLs. Every year of increasing age, reduces the chance of hypercalcemia by 40%, significantly. Age seems to affect hypercalcemia more than hypocalcemia. Age in men increases the risk of hypocalcemia, and reduces the risk of hypocalcemia in women. Therefore, it is recommended to encourage dietary calcium intake among premenopausal women and older men., Competing Interests: Conflict of interest The authors declare that they have no conflict of interest, (Copyright © 2022 Farhud et al. Published by Tehran University of Medical Sciences.)

Background: Epigenetic alterations such as DNA methylation are known as the main cause of different types of cancers through inactivation of tumor suppressor genes, especially thyroid cancer. Identification of novel and effective markers are important in diagnosis and prevention of thyroid cancer. In the present study, the expression and methylation of Solute carrier family 5 member 8 ( SLC5A8 ) in Papillary Thyroid Carcinoma (PTC) in comparison to multinodular goiter (MNG) have been studied., Methods: Overall, 41 patients with PTC and 36 patients affected by MNG were recruited from four hospitals in Tehran and Qazvin, Iran in 2018. Thyroid tissues were obtained during thyroidectomy. RNA and DNA were extracted from thyroid tissues. Quantitative RT-PCR assay was performed for determining the mRNA level of SLC5A8 while Methylation-Sensitive High-Resolution Methylation was applied for assessing the methylation status., Results: Methylation status of three regions composed of 52 CpG islands in the promoter of SLC5A8 gene was studied by HRM assay. SLC5A8 level in PTC tissues was significantly downregulated in average 0.4 fold in comparison with MNG tissues ( P =0.05). The aberrant methylation of SLC5A8 (b) region was remarkably different in PTC and MNG cases. The promoter methylation of SLC5A8 (c) was significantly related to BRAF mutations and vascular invasion in PTC patients., Conclusion: The aberrant promoter hyper methylation of SLC5A8 was related to aggressive PTC. Therefore, there is some evidence to support the hypothesis that SLC5A8 could be a paly important role in the development of PTC., Competing Interests: Conflict of interest The authors declare that there is no conflict of interest., (Copyright © 2022 Sheikholeslami et al. Published by Tehran University of Medical Sciences.)

Background: The tumor suppressor genes play a critical role in cellular and molecular mechanisms such as cell cycle processes, cell differentiation and apoptosis. Aberrant DNA methylation of tumor suppressor genes and subsequent gene expression changes have shown to be involved in the initiation and progression of various malignancies including thyroid malignancies. In this review, we investigated what is known about the impact of promoter hypermethylation on the key tumor suppressor genes known to be involved in cell growth and/or apoptosis of thyroid cancer., Methods: The most important databases were searched for research articles until June 2020 to identify reported tumor suppressor genes that are modulated by methylation modulation changes in thyroid carcinoma. Following the inclusion and exclusion criteria, 26 studies were reviewed using the full text to meet the inclusion and exclusion criteria., Results: The tumor suppressor genes reviewed here are suggestive biomarkers and potential targetable drugs. Inactivation of RASSF1A , DAPK1 , SLCFA8 , and TSHR through aberrant epigenetic methylation could activate BRAF/MEK/ERK kinase pathways with potential clinical implications in thyroid cancer patients. RARβ2 and RUNX3 could suppress cell cycle and induce apoptosis in malignant cells. TIMP3 and PTEN could prevent angiogenesis and invasion through PIP3 pathway and arrest VEFG activity., Conclusion: The methylation status of key genes in various types of thyroid malignancies could be used in early diagnosis as well as differentiation of malignant and benign thyroid. This is valuable in drug repurposing and discovering alternative treatments or preventions in thyroid cancer., Competing Interests: Conflict of interest The authors declare that there is no conflict of interest., (Copyright © 2021 Sheikhleslami et al. Published by Tehran University of Medical Sciences.)

Background: Due to the increasing prevalence of infertility, the number of referrals to infertility treatment centers has also increased. Nowadays, assisted reproductive technology (ART), including in vitro fertilization (IVF), is a treatment for infertility or genetic problems. Considering the possible consequences of this method among women undergoing in vitro fertilization (IVF) and kids conceived by IVF, extensive research has been conducted in this regard., Methods: Overall, 100 articles were entered into the study, and relevant articles were searched and extracted from PubMed, Springer, and Google Scholar databases. In IVF procedure, medications such as Clomiphene citrate and gonadotropins are used to stimulate and mature follicles and thus increase ovulation., Results: There are conflicting opinions on this issue. Some findings report a slight increase in cancer risk for hormone-sensitive cancers including breast cancer. The long-term use of IVF medications can increase estrogen hormones and cause excessive expression of genes, resulting in an increased risk of breast cancer, which is one of the most frequent cancers among women., Conclusion: There are some risks to be aware of, which followed the hypothesis that long IVF treatment process may lead to breast cancer among IVF candidates. Furthermore, the risk of breast cancer may be increased in those women with a positive family history and related inherited genes. Therefore, women candidates for IVF should be informed of the probable implications of the reproductive therapy techniques., Competing Interests: Conflict of interest The authors declare that they have no conflict of interest., (Copyright © 2021 Farhud et al. Published by Tehran University of Medical Sciences.)

Background: Medullary thyroid cancer (MTC) accounts for 5%-10% of all thyroid cancers, but causes 13% of all thyroid cancer related deaths. MicroRNAs (miRs) have key functions in the development and progression of MTC. Altered expression of some miRs has been reported in many human cancers, including Thyroid cancer. Therefore, we aimed to analyze the expression of miR-154, miR-183 and miR-127 in MTC tumor tissues., Methods: In this case-control study, 15 MTC Formalin-fixed, paraffin-embedded (FFPE) tissue samples and 15 adjacent normal thyroid FFPE tissues, as a control group, were collected from Taleghani, and Loghman Hakim Hospitals, Tehran, Iran since 2005 till 2015. After RNA extraction and cDNA synthesis, the expression of miR-127, miR-154 and miR-183 was measured by quantitative Real-Time Polymerase Chain Reaction (qRT-PCR)., Results: Our data showed a significant increase in the expression of miR-127 in MTC samples in comparison with the control group ( P <0.05). Although miR-154 and miR-183 expression levels had increase expression in MTC tumors, this change was not statistically significant., Conclusion: The miR-127 could be considered as a prognostic, diagnostic and therapeutic marker for the management of MTC, and it is proposed for further investigation to fully establish the role of this miRNA in MTC., Competing Interests: Conflict of interest The authors declare that there is no conflict of interests., (Copyright © 2021 Rahmani Samani et al. Published by Tehran University of Medical Sciences.)

Over the last few years, the development of genome editing has revolutionized research on the human genome. Recent advances in developing programmable nucleases, such as meganucleases, ZFNs, TALENs and Clustered Regularly Interspaced Short Palindromic Repeats (CRISPR)/Cas, has greatly expedited the progress of gene editing from concept to clinical practice. The CRISPR has advantages over other nuclease-based genome editing tools due to its high accuracy, efficiency, and strong specificity. Eight years after CRISPR application for human genome edition by Emmanuelle Charpentier and Jennifer A. Doudna, the 2020 Nobel Prize in Chemistry has been jointly given to them for development of CRISPR-Cas9 gene editing, allows scientists to precisely cut and edit of DNA., Competing Interests: Conflict of interest The authors declare that there is no conflict of interests., (Copyright © 2020 Farhud et al. Published by Tehran University of Medical Sciences.)

Background: Hearing loss (HL) is one of the most common heterogeneous congenital disabilities worldwide. Gap junction protein β-3 ( GJB3 ) gene encodes Connexin31 protein (Cx31). The hereditary type of hearing impairment in this gene are known to cause both autosomal recessive and autosomal dominant form. In addition, GJB3 mutations have been involved in sensorineural deafness, erythrokeratodermia variabilis (EKV), and neuropathy diseases. We aimed to investigate GJB3 mutations in people suffering from HL among three different ethnicities of Iranian population (Baloch, Kurd, and Turkmen)., Methods: In this descriptive study, 50 GJB2 -negative non-syndromic hearing loss (NSHL) Iranian individuals from 3 ethnic groups of Baloch (n=17), Kurd (n =15) and Turkmen (n=18) were enrolled. DNA extractions, PCR, and mutation detection was carried out for the two large deletions of the GJB6 , del (GJB6 -D13S1830,) and del ( GJB6 -D13S1854) followed by direct DNA sequencing method for the GJB3 ., Results: DNA sequencing of GJB3 was shown a missense heterozygous mutation rs199689484 (NM&#95;024009.3) GJB3: c.340G>A (p.Ala114Thr) in a Baloch patient, and a polymorphism rs35983826 (NM&#95;024009.3) GJB3 : c.798C>T (p.Asn266=) in a Turkman patient, in coding region of the GJB3 . We did not detect del (GJB6 -D13S1830) and del (GJB6 -D13S1854) among these three ethnicities in Iran., Conclusion: Deafness is a heterogeneous disorder. Specific genes and mutations contribute to hearing loss that varies from locus to locus as well as from population to population., Competing Interests: Conflict of interest The authors declare that there is no conflict of interest., (Copyright © 2020 Aliazami et al. Published by Tehran University of Medical Sciences.)

Oguchi disease is a rare autosomal recessive form of congenital stationary night blindness (CSNB) characterized by specific features such as golden-brown discoloration of the fundus called Mizuo-Nakamura phenomenon which is distinguishable by fundoscopy, and retinography. Clinical diagnosis is confirmed through genetic test. Two known genes in pathogenesis of Oguchi disease are SAG and GRK1. A 35-year-old Iranian male exhibiting the clinical features of congenital stationary night blindness, was referred to the genetic clinic of Dr. Farhud, Tehran, Iran in 2012 and examined. Ophthalmic examination including slit-lamp biomicroscopy, perimetry and funduscopy was performed. Additionally, the full-field electroretinography and molecular testing for congenital stationary night blindness were performed. Molecular genetic tests, including the analysis of GSK1 and SAG genes exon-intron boundaries were performed for this patient and his family. According to the sequencing results, we did not find any mutation in GSK1 gene. However, a new homozygote mutation at location chr2:233320735, c.517delC, p.P96LfsX28 was identified in exon four of SAG gene. This deletion causes a frame shift mutation, and premature stop codon that results in deletion of about 281 amino acid residues of S-antigen visual arrestin protein (from entire C-terminal). This mutation was also found in patient's parents and one of his sister as heterozygote form. This is the first molecular evidence for SAG gene mutation in an Iranian family affected with Oguchi disease type 1. The identification of the new c.517delC, p.P96LfsX28 mutation in this family with Oguchi disease can confirm the pathogenicity of this variant., Competing Interests: Conflict of interest The authors declare that there is no conflict of interest., (Copyright© Iranian Public Health Association & Tehran University of Medical Sciences.)

Competing Interests: Conflict of interest None declared.

Background: In-vitro fertilization (IVF) has been very popular since the birth of the first "test-tube" baby. This method is the last hope and the most serious solution for couples with infertility problems. Although childbearing is a concern of many couples, it must always be noted that any method can also have disadvantages. Thus, many studies have been done on the problems encountered by this method., Methods: We searched for relevant articles in Pub Med, Springer, Elsevier, and Google Scholar databases, and studied more than 70 papers. Keywords used included ovarian cancer, in vitro fertilization, gonadotropin hormone, clomiphene citrate, and infertility., Results: Due to the large number of studies, high doses of the ovulation-stimulating drugs and their repeated use in this method can increase the risk of the ovarian hyper stimulation syndrome (OHSS), and ovarian cysts, which can lead to ovarian cancer. Also, an increase in the risk of developing ovarian cancer can be due to the increased duration of treatment for up to 12 months and the high doses of medications that are followed by defecation and failure of this treatment., Conclusion: Due to the increase in the rates of infertility treatments and the incidence of gynecological cancers, especially ovarian cancer, this method need to be used with caution. IVF clients and candidates should be informed about potential future risks. People should be evaluated genetically for their history of ovarian cancer and be more aware of the importance of "Personalized medicine"., Competing Interests: Conflict of interests The authors declare no conflict of interest., (Copyright© Iranian Public Health Association & Tehran University of Medical Sciences.)

Background: Considering the importance of high out-of-pocket (OOP) payment (OOPP), as a marker of health system performance, and affordability of medications in the elderly, this study was conducted to determine these issues., Methods: In this cross-sectional study, prescriptions of patients aged 65 yr or older from 5 university-affiliated pharmacies in Tehran, Iran were evaluated from Jan to Mar 2014. Prescriptions were selected from four insurance organizations. We used the prescriptions data regarding patients' demographics and the prescribers as well as the sales data for OOP. Affordability was calculated by considering the daily salary of an unskilled worker., Results: Totally, 1467 prescriptions were analyzed. Mean age of patients was 73.89(6.66) yr. Mean (SE) of reimbursable and OOPP of the prescriptions were 203820 (10831) and 230252 (10634) IRR (Iranian Rials) respectively (equivalent to 81.6 (4.33) and 92.17 (4.33) US$ respectively). Subspecialists imposed higher expenditures for patients and insurance organizations. Patients referred to the ophthalmologists paid less OOP. Nearly 50% of the total prescription costs was paid as OOP. The mean OOPP was averagely equal to 1.41(0.065) daily salary. These prescriptions were unaffordable for 36.2% of patients., Conclusion: The OOPP was higher than the insurance goal of 30% for outpatients in Iran. More than one-third of elderly patients could not afford their single prescription. Due to the health consequences of the unaffordability of medications, corrective actions are needed by the insurance organizations and the health system., Competing Interests: Conflict of interests The authors declare that they have no competing interests.

Background: Vitamin D is an essential substance for absorption of calcium and phosphorus from intestine so it is vital for muscles and skeletal development. Deficiency of this vitamin is pandemic. The vitamin D status depends on the different factors such as UV exposure, diet, and ecological features of living location, age and gender. The aim of this study was to describe the vitamin D level in different provinces of Iran and to investigate the association between vitamin D status and multiple variables., Methods: We collected the serum 25(OH)D (Vitamin D) level data of 308,005 people referred to different laboratories from 30 provinces of Iran and organized them by each province, year, age, gender, precipitation, latitude and longitude, and humidity over 10 yr (2009-2018). Data were analyzed to find out the correlation between age, gender, longitude and latitude, humidity and sum of precipitation., Results: West Azerbaijan had the highest level of vitamin D with a mean level of 33.24 and a standard deviation of 32.001, and North Khorasan had the lowest level with a mean level of 14.46 and a standard deviation of 8.980 among 30 provinces of Iran. The correlation between all studied variables (age, and gender, latitude and longitude, humidity, the sum of precipitation) was significant ( P <0.001)., Conclusion: The average total vitamin D level in Iran is 25.41 ng/ml, which is within the area of deficiency. Vitamin D is associated with age, and gender, latitude and longitude, humidity, the sum of precipitation. So changes in any of these variables can lead to vitamin D alteration., Competing Interests: Conflict of interest The authors declare that there is no conflict of interests.

Background: The color of the skin is highly heritable but can be influenced by the environments and endocrine factors. Many other factors, sometimes destructive, are also involved in the formation of skin color, which sometimes affects pigmentation patterns. Vitiligo is an autoimmune hypopigmentation painless disorder with appearance of white patches and psychological effects on patients. It is a disease in which melanocytes of the skin are destroyed in certain areas; therefore depigmentation appears., Methods: We studied more than 60 articles. Several therapeutic methods have been used to return the color of skin in vitiligo. These methods include non-invasive treatment and surgical techniques. Among all these therapies, cell transplantation is an advanced procedure in regenerative medicine. Extraction of melanocytes from normal skin and then their cultivation in the laboratory provides a large number of these cells, the transplanting of which to depigmentation areas stimulates the site to irreversibly produce melanin., Results: The transplantation methods of these cells have been evolved over many years and the methods of producing blister have been changed to the injection of these cells to the target sites., Conclusion: In this review, autologous cultured melanocyte transplantation has been considered to be the most viable, safe, and effective method in the history of vitiligo treatments., Competing Interests: Conflict of interest The authors declare no conflict of interest.

Background: This study was conducted to evaluate the incidence of medication discrepancies and its related factors using medication reconciliation method in patients admitted to the emergency department of Tehran University of Medical Sciences hospitals., Methods: In this cross-sectional study, 200 adult patients with at least one chronic disease that used two regular prescription medications were included in 2015. After 24 h of admission, demographic data and patient's home medications were collected. Medication discrepancies were assessed through comparison of a best possible medication history list with the physician's orders., Results: Out of 200 patients (mean age, 61.5 yr; 86 males, 114 women), 77.5% of patients had one or more medication discrepancies. The most common discrepancies were medication omission (35.49%), change (14.22%) and substitution (10.97%), respectively. The relationship between number of comorbid conditions ( P =0.025), regular home medications ( P =<0.001), high-risk medications ( P =0.032), medications pharmacological classes ( P =<0.001) and medication discrepancies were statistically significant. Cardiovascular drugs compared to other medications classes showed the highest discrepancies (36.2%). Multiple logistic regression showed that the drug groups, including anti-infective for systemic use (OR=8.43; 95%CI 2.5-28.2; P =0.001), Antineoplastic and Immuno-modulator Agents (OR=0.49; 95%CI 0.27-0.87; P =0.016), Blood and Blood-Forming Organs (OR=0.33; 95%CI 0.21-0.52; P <0.001), Muscular-Skeletal System (OR=2.4; 95%CI 1.13-5.1; P =0.022), Nervous-System (OR=2.75; 95%CI 1.7-4.4; P <0.001), Respiratory-System (OR=0.38; 95%CI 0.22-0.67; P =0.001) were associated with the drug discrepancy., Conclusion: A medication discrepancy occurs commonly at hospital emergency department. Understanding the type and frequency of discrepancies with using structured medication reconciliation process can help clinicians to prevent them., Competing Interests: Conflict of Interests The authors declare that there are no conflicts of interest.

The nutrients are able to interact with molecular mechanisms and modulate the physiological functions in the body. The Nutritional Genomics focuses on the interaction between bioactive food components and the genome, which includes Nutrigenetics and Nutrigenomics. The influence of nutrients on f genes expression is called Nutrigenomics, while the heterogeneous response of gene variants to nutrients, dietary components and developing nutraceticals is called Nutrigenetics. Genetic variation is known to affect food tolerances among human subpopulations and may also influence dietary requirements and raising the possibility of individualizing nutritional intake for optimal health and disease prevention on the basis of an individual's genome. Nutrigenomics provides a genetic understanding for how common dietary components affect the balance between health and disease by altering the expression and/or structure of an individual's genetic makeup. Nutrigenetics describes that the genetic profile have impact on the response of body to bioactive food components by influencing their absorption, metabolism, and site of action.In this way, considering different aspects of gene-nutrient interaction and designing appropriate diet for every specific genotype that optimize individual health, diagnosis and nutritional treatment of genome instability, we could prevent and control conversion of healthy phenotype to diseases.

Background: Hypomagnesaemia is one of the main side effects of cisplatin-based chemotherapy regimens in cancer patients. The aim of the current investigation was to evaluate the effect of oral magnesium oxide (MgO) supplementation on cisplatin-induced hypomagnesemia., Methods: This parallel-randomized controlled, open label trial was conducted in a hospital of Iran University of Medical Sciences in Tehran between December 2009 and May 2011. Participants were 69 adult patients with newly diagnosed non- leukemia neoplasms candidate for starting cisplatin-based chemotherapy. Oral MgO supplement according to cisplatin dose (500 mg MgO per 50 mg/m(2) of cisplatin) as 2-3 divided daily doses was started after completion of each chemotherapy cycle and continued to the next cycle for the intervention group. Patients in the control group did not receive any supplementation. Serum magnesium (Mg) was measured before each chemotherapy cycle. The main outcome was measuring serum Mg change and hypomagnesaemia rate during chemotherapy treatment., Results: Sixty-two participants (31 intervention- 31 controls) enrolled into the study. Serum Mg levels showed significant difference between the two groups (P=0.01). There was a significant decrease in serum Mg of the control group (P=0.001). At the end of follow-up period prevalence of hypomagnesaemia in the intervention group was 10.7% versus 23.1% in the control group., Conclusion: Continuously oral supplementation with MgO according to cisplatin dose (500 mg MgO per 50 mg/m(2) cisplatin) as 2-3 divided daily doses at rest days between chemotherapy cycles reduces the decline in serum Mg levels and also the prevalence of hypomagnesaemia in cancer patients.

Background: Androgen insensitivity syndrome (AIS) or testicular feminization is a partial or complete inability of cell response to androgen. The cause is enzymatic defect in synthesis of testosterone, resulting sexually immature phenotypically female, with primary amenorrhea. There are three categories of AIS, complete, partial and mild, depending on the degree of external genital masculinization. The aim of this study was to find out chromosomal abnormalities, and correlation between AIS and maternal/paternal age, parents' consanguineous marriage, family history and clinical observation, in Iranian AIS patients., Method: This study includes a retrospective data analysis of 72,000 families' medical records in the Genetic Clinic in Tehran, during a 30-yr period (1984-2014). The essential basis for the patients' referral to the clinic by gynecologists was primary amenorrhea. Cytogenetic abnormalities has been confirmed by chromosome G-banding and conventional staining methods., Results: Seventy AIS female patients with 46XY pattern were cytogenetically diagnosed and the frequency of AIS syndrome was estimated about 0.05% (∼70/140000). The results showed no association between AIS and maternal or paternal age nor were the marital pattern of the parents. The clinical findings illustrated that primary amenorrhea had the highest indication for referral of AIS patients for genetic counseling and cytogenetic study., Conclusion: No correlation was observed between AIS and maternal or paternal age or consanguineous marriages. Amenorrhea is the most clinically observed sign of AIS patients.

Background: Medullary thyroid carcinoma (MTC) occurs in both sporadic (75%) and hereditary (25%) forms. The missense mutations of the REarranged during Transfection (RET) proto-oncogene in MTC development have been well demonstrated. The aim of this study was to investigate frequency of G691S/S904S haplotype in MTC patients and their relatives., Methods: In this research 293 participants were studied, including 181 patients (102 female, 79 male) and 112 their relatives (58 female, 54 male). Genomic DNA was extracted from peripheral blood leucocytes using the standard Salting Out/Proteinase K method. Nucleotide change detection was performed using PCR and direct DNA sequencing methods., Results: According to DNA sequencing results, 159 individuals (104 patients, 55 relatives) had both G691S (rs1799939) missense mutation in exon11 and S904S (rs1800863) synonymous mutation in exon 15 of RET proto-oncogene. The allele frequency of G691S/S904S haplotype was 21.15% in patients and 10.75% in their relatives., Conclusion: The obtained data showed the frequency of G691S/S904S RET gene haplotype among Iranian MTC patients and their relatives. The G691S and S904S nucleotide changes were in complete linkage disequilibrium, so the results were grouped together and referred to as G691S/S904S haplotype. Further analysis is need to demonstrate the association between this haplotype and MTC development.

The evolution of human blood groups, without doubt, has a history as old as man himself. There are at least three hypotheses about the emergence and mutation of human blood groups. Global distribution pattern of blood groups depends on various environmental factors, such as disease, climate, altitude, humidity etc. In this survey, the collection of main blood groups ABO and Rh, along with some minor groups, are presented. Several investigations of blood groups from Iran, particularly a large sampling on 291857 individuals from Iran, including the main blood groups ABO and Rh, as well as minor blood groups such as Duffy, Lutheran, Kell, KP, Kidd, and Xg, have been reviewed.