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Background: Robson’s Ten Group Classification System [RTGCS] is widely used to evaluate, monitor, and compare cesarean delivery [CD] rates within and between delivery service centers. This study aimed to investigate the causes of CD in Shiraz teaching hospitals using RTGCS. Materials and Methods: A cross-sectional study on 1787 pregnant women who underwent CD in selected teaching hospitals in Shiraz, Iran, was selected via convenience sampling within 3 months. The data collection tool was a demographic, midwifery, and fertility information questionnaire completed through interviews and medical records. Subjects’ classification was performed based on midwifery concepts and parameters described in RTGCS. The Robson's 10-group classification is based on simple obstetrical parameters [parity, previous CS, gestational age, onset of labour, fetal presentation, and number of fetuses]. Data were analyzed using SPSS software and descriptive tests were used to describe the data. Results: Of the 1787 subjects, 455 [25.5%] had planned CS and 1332 [74.5%] had emergency CS. The most common causes of CD were previous CD [58.6%] and fetal distress [27.6%]. Overall, 823 [46.1%] had fetal and placental causes, 1268 [71%] had uterine causes, and 78 [4.4%] had maternal causes Conclusion: The biggest factors that played a role in the CD rate in the present study were termed multipara women with a history of previous CD. The CD rate and the overall size of this group are still increasing, and as a result, women with a history of a previous CD must be motivated more effectively to have a vaginal birth after cesarean delivery [VBAC]

Pregnancy and motherhood are considered as enjoyable and evolutionary events in women's lives. In Iran, a study that measured the spiritual health of pregnant women has been conducted very limited. The aim of this study was to evaluate the mean score of spiritual health in pregnant women referred to hospitals affiliated to Shiraz University of Medical Sciences. This descriptive cross-sectional study was performed in 2016 on 200 pregnant women referring to health centers in Shiraz. Sampling was performed by available sampling method and information was collected by Palutzin and Ellison spiritual health tools and personal and demographic information by self-performed method. Data were analyzed by SPSS software (version 22) and descriptive statistical tests. The mean age was 28.92 with a gestational age of 37-41 weeks. 17 (8.5%) of the sample were less than 20 years old, 28 (14%) were 36-40 years old and 7 (3.5%) were over 40 years old. The mean age of spiritual health was 102.68(14.61) and 63 people (31.5%) had moderate spiritual health. And 137 people (68.5%) had high spiritual health. Most of the mothers participating in this study had high spiritual health. Therefore, more attention to the spiritual and psychological dimensions of pregnant women along with other dimensions of health is recommended.

Background: Abortion is one of the most common side effects of pregnancy, which has had shown a steady or even growing trend over the past few decades despite extensive efforts in prenatal care. Objective: This study aimed to investigate medical interventions for abortions in pregnant women referring to educational and medical centers in Shiraz, Iran, in 2018. Methods: In this cross-sectional study, 437 pregnant women referred to Shiraz Educational and Forensic Medicine Centers were selected. A questionnaire including demographic characteristics, midwifery information and types of medical interventions was completed for each. Data were analyzed by SPSS software using statistical tests. Results: According to the results of the present study, most subjects were aged 31-40 years (202 (46%)), had a high school diploma (183 (41%)), and were housewives (331 (57%)). Most of their gestational age was in the range of 16-20 weeks (184 (41%)). There was also a significant positive relationship observed between maternal age and gestational age (p = 0.01). Misoprostol and cervical Foley were the most used methods in induced abortions with a forensic permit (44.3%), vaginal misoprostol was the most used method in induced abortions with other indications (43.9%), and most spontaneous abortions involved no intervention (41.9%). Conclusion: Considering the importance of the medical abortion method, it is suggested to be considered for patients with different conditions in interventional studies. Also, the correct use of different family planning methods and identification of factors affecting the use of contraceptives are recommended after an abortion. Women’s education and men’s participation should be considered in the prevention of high-risk and unwanted pregnancies.

Background: Sexual dysfunction mainly results from psychological and personal causes. These causes, including self-esteem, have been considered to be the dominant reason for sexual dysfunction. Self-esteem is, in fact, among the basic factors in desirable personality development. Objective: Investigation of the relationship between self-esteem and sexual dysfunction in women at reproductive ages referred to healthcare centers in Shiraz, Iran. Materials and Methods: This epidemiological, analytical, cross-sectional study was conducted on 268 women at reproductive ages referred to healthcare centers in Shiraz in 2014-2015. The study data were collected using a demographic information form, Female Sexual Function Index, and Rosenberg Self-esteem Scale. Results: The results revealed a significant relationship between self-esteem and sexual function (p=0.001), sexual desire (p=0.03), sexual arousal (p=0.01), and lubrication (p=0.026). However, no significant correlation was observed among self-esteem and orgasm (p=0.54), sexual satisfaction (p=0.3), and pain during intercourse (p=0.1). Investigation of the relationship between demographic indicators and self-esteem showed that the spouse's education level had a significant statistical relationship (p = 0.008) with self-esteem, while there was no significant relationship between self-esteem and women's education level, husband's job, income, Body Mass Index (BMI), and age of women. Conclusion: The results indicated that self-esteem was associated with sexual dysfunction. Accordingly, individuals with lower self-esteem showed higher sexual dysfunction.

BACKGROUND: Congenital vertical talus (CVT), also known as “rocker-bottom foot”, is a rare foot deformity associated with a dislocation of the talonavicular joint. Although genetic causes of CVT have been described in single isolated and syndromic families, whole-exome sequencing (WES) of large cohorts have not yet been reported. METHODS: In this study, 62 probands with CVT were evaluated for likely causative single nucleotide variants (SNVs) and copy number variants (CNVs) using WES. Segregation of variants within families was determined by Sanger sequencing. RESULTS: In this cohort, CVT occurred as an isolated anomaly in 75.8% (47/62) and was familial in 19.3% (12/62) of cases. Analysis of WES data led to the identification of likely causative variants in known disease genes in 30.6% (19/62) of all CVT probands. More than one proband had likely causative SNVs in TSHZ1, GDF5, and LMX1B. Only two probands had likely causative CNVs: a chromosome 12q13.13 deletion of the 5’ HOXC gene cluster, and a chromosome 18q22.3q23 deletion involving TSHZ1. Familial CVT was strongly predictive of identifying a molecular diagnosis [75% (9/12) of familial cases compared to 20% (10/50) of non-familial cases (Chi-square test, P-value=0.0002)]. There was no difference in the solved rate based on isolated or syndromic presentation, unilateral or bilateral affectation, or sex. CONCLUSIONS: CVT is genetically heterogeneous and more often caused by SNVs than CNVs. There is a high yield of WES in familial CVT cases (~75%). Additional research is needed to identify the causes of sporadic CVT, which had much lower solved rates.

Background: Menopause is an important physiological phenomenon in women's lives. Women's concern about taking the hormone treatment to ease menopausal symptoms is increasing. Over the past decade, the use of complementary and alternative medicine for the treatment of menopausal problems instead of hormone therapy has increased. Objective: This study aimed to investigate the role of herbal medicine, acupressure, and acupuncture in the menopausal symptoms. Methods: Data source: related articles were searched from internal scientific databases and external databases of “Web of Scopus, Cochrane, PubMed, Science Direct, Ovid, and Google scholar.” Study Eligibility Criteria: The keywords such as menopause, menopausal symptoms, complementary menopausal medicine, acupuncture in menopause, herbal medicine in menopause, and acupuncture in menopause were searched in the studies from 1987 to 2019. Exclusion criteria were inadequate information in the study, lack of access to full-text articles, animal studies, and reports. At the end of the search, 145 articles out of a total of 400 articles were reviewed. Results: In various studies, different herbs such as licorice, valerian, soy, sage, ginseng, etc., were used to improve menopausal symptoms. In addition, acupuncture and acupressure were used to reduce menopausal symptoms. Conclusion: The efficacy and use of complementary and alternative medicine, along with other classical medicine care, can be a new model for improving menopausal symptoms in women. It is recommended that further clinical and review studies be conducted to develop complementary and alternative medicine.

Summary Induced pluripotent stem cells (iPSC) derived from healthy individuals are important controls for disease-modeling studies. Here we apply precision health to create a high-quality resource of control iPSCs. Footprint-free lines were reprogrammed from four volunteers of the Personal Genome Project Canada (PGPC). Multilineage-directed differentiation efficiently produced functional cortical neurons, cardiomyocytes and hepatocytes. Pilot users demonstrated versatility by generating kidney organoids, T lymphocytes, and sensory neurons. A frameshift knockout was introduced into MYBPC3 and these cardiomyocytes exhibited the expected hypertrophic phenotype. Whole-genome sequencing-based annotation of PGPC lines revealed on average 20 coding variants. Importantly, nearly all annotated PGPC and HipSci lines harbored at least one pre-existing or acquired variant with cardiac, neurological, or other disease associations. Overall, PGPC lines were efficiently differentiated by multiple users into cells from six tissues for disease modeling, and variant-preferred healthy control lines were identified for specific disease settings., Graphical Abstract, Highlights • Precision health resource of high-quality control iPSC lines for disease modeling • Versatile differentiation into six functional cell types shown by resource users • CRISPR gene editing reveals expected phenotype of cardiomyopathy model • Variant annotation identified preferred lines for neurologic and cardiac disease, Ellis, Scherer, and colleagues apply precision health to upgrade iPSC quality for disease modeling. The resource provides control lines from four healthy individuals, clinical annotation of whole-genome variants, and identification of variant-preferred lines for neurologic and cardiac disease. Resource users demonstrated versatile differentiation into functional cells from six tissues, and CRISPR-edited cells phenocopied a cardiomyopathy model.

Background: Abortion is an important pregnancy complication with short-term and long-term adverse physical and psychological effects on women. Objectives: The present study aimed to investigate the short-term physical and psychological effects of various types of medical abortion in pregnant women referring to educational and medical centers in Shiraz, Iran. Methods: In this cross-sectional study, among 5176 deliveries by the women referring to Shiraz Educational and Forensic Medicine Centers during a 4-month period, 437 pregnancies ended in abortion and thus were included in this study. A questionnaire was completed for each of the abortions, recording demographic characteristics and midwifery information. As well, the Mississippi Post Traumatic Stress Disorder Scale (M‑PTSD) was filled. Data were analyzed by SPSS software using appropriate statistical tests. Results: The most common physical complications of induced and spontaneous abortion were fever (10.3%) and the need for transfusion of blood products (4.6%). Among the patients who received abortion therapy, 73.1% had moderate stress due to psychological complications. Conclusions: Since the most common complications after abortion are fever, the need for blood transfusion, and bleeding, it is recommended to prepare a protocol to standardize post-abortion care. Most women in both induced and spontaneous abortion groups had moderate levels of stress. Due to the lack of attention to the mental health of the women experiencing abortion, it is necessary for these women to receive adequate supportive counseling, in addition to other medical services, after abortion.

Objective: This study was designed to compare the effect of aromatherapy with Rosa Damascena and Citrus Aurantium blossom on psychological and physical symptoms and social functions of females with premenstrual syndrome. Materials and Methods: This double-blind clinical trial was conducted on 95 students. They were randomly divided into three aromatherapy groups (aromatherapy with 4% concentration of Rosa Damascena and 0.5% concentration of Citrus Aurantium blossom essential oil) and aromatherapy with sweet almond oil (as control group). Premenstrual Symptoms Screening Tool questionnaire (PSST) was completed before and during the first and second month of the intervention. Data were analyzed by SPSS software version 22. Results: After intervention, the scores of mental symptoms decreased in all three groups and this decrease was significant in both Citrus Aurantium (P = 0.004) and Rosa Damascena groups (P = 0.007). The score of physical symptoms was decreased in all three groups but it was significant only in the Rosa Demecensa group (P = 0.042). The reduction of effect of symptoms on social function was observed in two intervention groups which were significant only in Rosa Damascena group (P < 0.001). Conclusion: Essential oils of Rosa Damascena and Citrus Aurantium were both effective in improving the symptoms of premenstrual syndrome but the effect of Rosa Damascena, with regard to improvement of symptoms of premenstrual syndrome was more than that of Citrus Aurantium in all psychological, physical, and social aspects.

Background: During menopause, women undergo biological, social, and psychological changes and are sensitive to stressors, especially anxiety and depression. Decreased estrogen in postmenopausal women causes mood swings, especially depression and anxiety. Objectives: We aimed to determine the effect of the Vitex agnus-castus extract on depression in postmenopausal women referring to a bone density measurement center in Shiraz. Methods: In a randomized controlled tria1, 60 postmenopausal women were randomly divided into an intervention group and a control group. In the intervention group, the research units were assigned to two groups of Vitex agnus-castus tablets and placebo, using random permuted blocks with a block size from one to six for each eligible case. After three months, depression was evaluated by the Edinburg Postnatal Depression Scale (EPDS) in both groups. Then, the results were analyzed using the independent t-test for quantitative variables. The obtained data were analyzed by a statistician using SPSS21. Results: Based on the results, the two groups were homogeneous in terms of the level of education, occupation, and housing, and a significant decrease was observed in the mean depression score in the Agnugolgroup (P < 0.001). Conclusions: Because depression increases during menopause, it is recommended that it should be used as a supplement during menopause.

SummaryInduced Pluripotent Stem Cells (iPSC) derived from healthy individuals are important controls for disease modeling studies. To create a resource of genetically annotated iPSCs, we reprogrammed footprint-free lines from four volunteers in the Personal Genome Project Canada (PGPC). Multilineage directed differentiation efficiently produced functional cortical neurons, cardiomyocytes and hepatocytes. Pilot users further demonstrated line versatility by generating kidney organoids, T-lymphocytes and sensory neurons. A frameshift knockout was introduced into MYBPC3 and these cardiomyocytes exhibited the expected hypertrophic phenotype. Whole genome sequencing (WGS) based annotation of PGPC lines revealed on average 20 coding variants. Importantly, nearly all annotated PGPC and HipSci lines harboured at least one pre-existing or acquired variant with cardiac, neurological or other disease associations. Overall, PGPC lines were efficiently differentiated by multiple users into cell types found in six tissues for disease modeling, and clinical annotation highlighted variant-preferred lines for use as unaffected controls in specific disease settings.

Background Religion is considered as one of the factors influencing one's behavior and cognition and plays an important role in shaping the individual's lifestyle. People with religious beliefs, due to less stress, may have less conflict with others. Objective Comparison of adolescents with high and low religious attitudes in terms of conflict with mother. Methodology This is a cross-sectional, analytic, epidemiological study on girls aged between 15 to 18 years in middle and high schools of Shiraz. The sample size, with a percentage of conflict in a sample of 86 pilots, was 509. Data collection tools included a demographic questionnaire, conflict tactics scale parents (CTSP), and religious attitude questionnaire. Results There was no significant relationship between religious attitude and individuals' reasoning tactics (P = 0.072), and physical aggression tactics (P = 0.83) of the girls with mother conflict resolution. However, there was a significant relationship between religious attitude and verbal aggression tactics (P = 0.83) of adolescents and mothers (P = 0.04(. There was a significant difference between religious attitudes and total the girls with mother conflict resolution scale (P = 0.003). Relationship between religious attitude and individuals' reasoning tactics in conflict resolution (P = 0.072) and physical aggression tactics (P = 0.83) of self and mother was not seen significant relationship. Conclusion The majority of girls (91.2%) had a moderate religious attitude (48.4%) at low levels of conflict. There was a significant relationship between religious attitude and the total score of There was no significant relationship between religious attitude and individuals' reasoning tactics (P = 0.072) and physical aggression tactics (P = 0.83) of the girls with mother conflict resolution conflict.

Contains fulltext : 167787.pdf (Publisher’s version ) (Open Access) The CRISPR/Cas technology enables targeted genome editing and the rapid generation of transgenic animal models for the study of human genetic disorders. Here we describe an autosomal recessive human disease in two unrelated families characterized by a split-foot defect, nail abnormalities of the hands, and hearing loss, due to mutations disrupting the SAM domain of the protein kinase ZAK. ZAK is a member of the MAPKKK family with no known role in limb development. We show that Zak is expressed in the developing limbs and that a CRISPR/Cas-mediated knockout of the two Zak isoforms is embryonically lethal in mice. In contrast, a deletion of the SAM domain induces a complex hindlimb defect associated with down-regulation of Trp63, a known split-hand/split-foot malformation disease gene. Our results identify ZAK as a key player in mammalian limb patterning and demonstrate the rapid utility of CRISPR/Cas genome editing to assign causality to human mutations in the mouse in

Synpolydactyly (SPD) is a rare congenital limb disorder characterized by syndactyly between the third and fourth fingers and an additional digit in the syndactylous web. In most cases SPD is caused by heterozygous mutations in HOXD13 resulting in the expansion of a N-terminal polyalanine tract. If homozygous, the mutation results in severe shortening of all metacarpals and phalanges with a morphological transformation of metacarpals to carpals. Here, we describe a novel homozygous missense mutation in a family with unaffected consanguineous parents and severe brachydactyly and metacarpal-to-carpal transformation in the affected child. We performed whole exome sequencing on the index patient, followed by Sanger sequencing of parents and patient to investigate cosegregation. The DNA-binding ability of the mutant protein was tested with electrophoretic mobility shift assays. We demonstrate that the c.938C>G (p.313T>R) mutation in the DNA-binding domain of HOXD13 prevents binding to DNA in vitro. Our results show to our knowledge for the first time that a missense mutation in HOXD13 underlies severe brachydactyly with metacarpal-to-carpal transformation. The mutation is non-penetrant in heterozygous carriers. In conjunction with the literature we propose the possibility that the metacarpal-to-carpal transformation results from a homozygous loss of functional HOXD13 protein in humans in combination with an accumulation of non-functional HOXD13 that might be able to interact with other transcription factors in the developing limb.

Hearing loss (HL) is a common sensory disorder in humans with high genetic heterogeneity. To date, over 145 loci have been identified to cause nonsyndromic deafness. Furthermore, there are countless families unsuitable for the conventional linkage analysis. In the present study, we used a custom capture panel (MiamiOtoGenes) to target sequence 180 deafness-associated genes in 5 GJB2 negative deaf probands with autosomal recessive nonsyndromic HL from Iran. In these 5 families, we detected one reported and six novel mutations in 5 different deafness autosomal recessive (DFNB) genes (TRIOBP, LHFPL5, CDH23, PCDH15, and MYO7A). The custom capture panel in our study provided an efficient and comprehensive diagnosis for known deafness genes in small families.

Background: Dysmenorrhea is one of the most common gynecological problems. This study aimed to determine the relationship between age at menarche and painful menstruation among female students of Shiraz schools. Methods: This cross sectional study was conducted on 2000 female students. For data collection, a researcher-made questionnaire was applied. Data were analyzed using statistical tests in SPSS version 21. Results: About 69.3% of the participants had experienced at least 1 episode of menstrual bleeding. Among postmenarcheal subjects, 77.7% had dysmenorrhea, while 22.3% did not. There was no significant relationship between age at menarche and dysmenorrhea (P = 0.15). However, there was a significant relationship between the onset of dysmenorrhea and postmenarche years (P < 0.001). Conclusions: Although two-thirds of students suffered from primary dysmenorrhea, no significant relationship was found with age at menarche. Therefore, the high prevalence of dysmenorrhea among students calls for proper counseling and management.

Objective The present research aimed to study the relationship between body mass index and menstrual disorders at different ages of menarche and sex hormones. Methods In this cross-sectional study, 2000 girls aged between 9 and 18 in all levels were selected through cluster sampling in Shiraz. Data were collected using demographic characteristics, menstrual disorders, body mass index and hormones' measure questionnaires. To analyze the data, we used SPSS 16 and Chi-square test. Results A total of 1024 (51.2%) out of 2000 subjects had normal BMI and the smallest group belonged to 26 subjects (1.3%) with BMI ≤ 30. There is a significant relationship between body mass index, menstrual cycle length (p = 0.006), spotting (p = 0.005), passing clots (p = 0.001) and menstrual bleeding (p = 0.04), and this relationship is insignificant between body mass index and duration of bleeding (p = 0.95), amenorrhea (p = 0.03), dysmenorrhea (p = 0.26) and menstrual regularity (p = 0.95). Investigating the relationship between body mass index and some of sex hormones shows that there is no significant relationship among BMI and TSH (p = 0.94), FSH (p = 0.21), LH (p = 0.21), Prolactin (p = 0.97), Testosterone (p = 0.66), and DHEAS (p = 0.94). Conclusions A significant relationship among BMI and menstrual cycle length, spotting, passing clots and menstrual bleeding, and was insignificant with sex hormones.

Background Age of menarche is a sign of the beginning of the ability to reproduce and is usually a turning point for the development and maturity and puberty. Regulatory factors in the onset of menarche age are not well understood, but in developed countries, it is thought that about half of the variations in the onset age of menarche is associated with genetic factors. Objectives To determine the association between menarche age, birth weight and the mother and older sister’s age of menarche; the subjects of this study were Shirazifemaleprimary, middle and high schools students in 2014 - 2015. Methods This is a cross-sectional study, which was done on 2000 girls aged 9 - 18 years. In the first stage, sampling of schools in 4 regions was randomly assigned to clusters. Then, the students in each school were selected purposively. The questionnaires filled in by the participants contained demographic items, menarche age, and birth weight. Data were analyzed through SPSS (version16), using Chi-square test and ANOVA. Results The majority of the subjects (n: 1294, 64.7%) had normal menarche age (11 - 14 years old).There was no relationship between menarche age and birth weight (P: 0.67).However, it was significantly associated with the students’ mother and older sister’s age of menarche (P: 0.001). Conclusions According to the findings, menarche age was within the normal range (11 - 14 years) in the majority of the subjects. There was a significant positive association between menarche age in both mothers and girls. In other words; girls reach menarche age earlier than their mothers. Thus, and mother and older sister’s menarche age can be a proper criterion to predictit in girls.

Objective Crohn9s disease (CD) is an intractable inflammatory bowel disease (IBD) of unknown cause. Recent meta-analysis of the genome-wide association studies (GWAS) and Immunochip data identified 163 susceptibility loci to IBD in Caucasians, however there are limited studies in other populations. Methods We performed a GWAS and two validation studies in the Korean population comprising a total of 2311 patients with CD and 2442 controls. Results We confirmed four previously reported loci: TNFSF15 , IL23R , the major histocompatibility complex region, and the RNASET2-FGFR1OP-CCR6 region. We identified three new susceptibility loci at genome-wide significance: rs6856616 at 4p14 (OR=1.43, combined p=3.60×10 −14 ), rs11195128 at 10q25 (OR=1.42, combined p=1.55×10 −10 ) and rs11235667 at 11q13 (OR=1.46, combined p=7.15×10 −9 ), implicating ATG16L2 and/or FCHSD2 as novel susceptibility genes for CD. Further analysis of the 11q13 locus revealed a non-synonymous single nucleotide polymorphism (SNP) (R220W/rs11235604) in the evolutionarily conserved region of ATG16L2 with stronger association (OR=1.61, combined p=2.44×10 −12 ) than rs11235667, suggesting ATG16L2 as a novel susceptibility gene for CD and rs11235604 to be a potential causal variant of the association. Two of the three SNPs (rs6856616 (p=0.00024) and rs11195128 (p=5.32×10 −5 )) showed consistent patterns of association in the International IBD Genetics Consortium dataset. Together, the novel and replicated loci accounted for 5.31% of the total genetic variance for CD risk in Koreans. Conclusions Our study provides new biological insight to CD and supports the complementary value of genetic studies in different populations.

article i nfo Objective: A recent genome wide association study in the Chinese population has implicated rs6903956 within the ADTRP gene on chromosome 6p24.1 as a novel susceptibility locus for coronary artery disease (CAD). In this study, we evaluated the association of rs6903956 with CAD in the different ethnic groups of Singaporean population comprising Chinese, Malays and Asian Indians. Design and methods: The genotypes of the rs6903956 SNP were determined in 645 CAD patients and 755 control group Singaporean subjects by using the polymerase chain reaction restriction fragment length polymorphism method (PCR-RFLP). We then tested the association of this SNP with CAD and lipid profiles. Results: The risk allele A of rs6903956 was associated significantly only in the Chinese with an odds ratio (OR) of 2.03 (95% CI 1.04-3.96, P=0.037) when analyzed by each ethnic group separately. In a meta-analysis with pooled subjects from all three ethnic groups, rs6903956 showed highly significant association with CAD both before (observed P=1.39e�04; OR=1.66; 95% CI 1.28-2.15) and after adjustment (P=4.63e�03; OR=1.86; 95% CI 1.21-2.87) for conventional risk factors of age, gender, BMI, smoking status and ethnicity. No significant association was observed between rs6903956 genotypes and lipid profiles in Chinese, Malays and Indians, suggesting that the association of this SNP with CAD is not mediated through plasma lipids. Conclusion: The SNP rs6903956 within the ADTRP gene on chromosome 6p24.1 is significantly associated with CAD in different ethnic groups of the Singaporean population.

Background: Menarche age is an indicator of a girl’s puberty besides the clinical assessment of detecting deviations. This study aimed to search the pattern of menarche age (normal, early and late) and its relationship with some demographic characteristics in girls and their parents. Methods: This cross-sectional study was done on girls aged between 9 and 18 years old in Shiraz city. About 2000 students were selected through cluster sampling. Data collection was done by applying a demographic information form. Finally, the data were analyzed using SPSS software. Results: About 1386 students (69.3%) had the history of menarche (at least once). The mean age of menarche was 12.26±1.11 years in Shiraz. The menarche age of the girls ranged from 9 years (as the least) to 15 (as the maximum). The prevalence of late menarche was 1.1%. In addition, no early menarche was reported. There was no relationship between menarche age and economic status, birth order and number of children, but a significant relationship was found between the parents’ education, house status, and the lifestyle of parents. Conclusion: The mean menarche age has been decreasing in cities. Therefore, it seems necessary for the families to be aware about the influence of time, trend and affecting factors on menarche; this helps them to make good decisions when educating their teenagers.

Aim: The aim of this study was to assess the degree of sexual dysfunction among infertile women and its correlation with age, duration of marriage and etiology of infertility in women. Methods: 300 infertile women who were referred to IVF center for management of their infertility problem involved in this study after inform consent. They are asked to fill a questionnaire contained three part of demographic, infertility and sexual function items. Distribution of sexual dysfunction and its relationship to infertility and marriage duration were analyzed through Chi-square taest. Results: The most common sexual dysfunction was orgasm disorder (83.76%) and the rate of sexual desire disorder, dyspareunia and vaginismus were 80.7%, 67.7% and 76.7% respectively. More than of 50% of cases mentioned decreased frequency of coitus after diagnosis of infertility. Vaginismus and dyspaereunia were more common in 20-24 years age group. Conclusion: According to the high rate of sexual dysfunction in this study and almost the same rate in other studies, it is the time that gynecologists should pay more attention to this important issue and encourage the patients to have an evaluation by a psychiatrist or psychologist

Pericentric inversions are among the most frequent chromosomal rearrangements with a frequency of 1-2�20There is no phenotypic effect in the majority of pericentric inversion heterozygote carriers, when it is a balanced rearrangement. However, miscarriages, infertility and/or chromosomally unbalanced offspring can be observed in carriers of a pericentric inversion. This is a case of pericentric inversion of one chromosome 21: inv (21) (p12; q22) in repeated pregnancy loss. A couple was referred for cytogenetic examination due to idiopathic miscarriages. The proband proved to be a carrier of chromosomal inversion and her partner’s karyotype was found to be normal. The karyotype of the proband is 46, xx, inv (21) (p12; q22). This abnormal karyotype is reported as a probable reason of miscarriage in the investigated couple. The risk of further miscarriages and the risk of a progeny with abnormal karyotype are rather high. Therefore, amniocenthesis for finding the chromosomal abnormality as a prenatal diagnosis are proposed for the patient if future pregnancy does not lead to miscarriage.

Background A growing number of non-coding regulatory mutations are being identified in congenital disease. Very recently also some exons of protein coding genes have been identified to act as tissue specific enhancer elements and were therefore termed exonic enhancers or “eExons”. Methods We screened a cohort of 134 unrelated families with split-hand/split-foot malformation (SHFM) with high resolution array CGH for CNVs with regulatory potential. Results In three families with an autosomal dominant non-syndromic SHFM phenotype we detected microdeletions encompassing the exonic enhancer (eExons) 15 and 17 of DYNC1I1. In a fourth family, who had hearing loss in addition to SHFM, we found a larger deletion of 510 kb including the eExons of DYNC1I1 and, in addition, the human brain enhancer hs1642. Exons 15 and 17 of DYNC1I1 are known to act as tissue specific limb enhancers of DLX5/6, two genes that have been shown to be associated with SHFM in mice. In our cohort of 134 unrelated families with SHFM, deletions of the eExons of DYNC1I1 account for approximately 3% of the cases, while 17p13.3 duplications were identified in 13% of the families, 10q24 duplications in 12%, and TP63 mutations were detected in 4%. Conclusions We reduce the minimal critical region for SHFM1 to 78 kb. Hearing loss, however, appears to be associated with deletions of a more telomeric region encompassing the brain enhancer element hs1642. Thus, SHFM1 as well as hearing loss at the same locus are caused by deletion of regulatory elements. Deletions of the exons with regulatory potential of DYNC1I1 are an example of the emerging role of exonic enhancer elements and their implications in congenital malformation syndromes.

Background Hyperlipidaemia is a major risk factor for coronary artery disease (CAD) and cholesteryl ester transfer protein (CETP) gene polymorphisms are known to be associated with lipid profiles. Methods In this study, we investigated the association of two polymorphisms in the CETP, Taq1B (rs708272) and -629C > A (rs1800775), with CAD and lipid levels HDL-C in 662 CAD + cases and 927 controls from the Singapore population comprising Chinese, Malays and Indians. Results TaqB2 frequency was significantly lowest in the Malays (0.43) followed by Chinese (0.47) and highest in the Indians (0.56) in the controls. The B2 allele frequency was significantly lower in the Chinese CAD + cases compared to the controls (p = 0.002). The absence of the B2 allele was associated with CAD with an OR 2.0 (95% CI 1.2 to 3.4) after adjustment for the confounding effects of age, smoking, BMI, gender, hypertension, dyslipidemia and diabetes mellitus. The B2 allele was significantly associated with higher plasma HDL-C levels in the Chinese men after adjusting for confounders. Associations with plasma apoA1 levels were significant only in the Chinese men for Taq1B and -629C > A. In addition, the Taq1B polymorphism was only associated with plasma Apo B and Lp(a) in the Malay men. Significant associations were only found in non-smoking subjects with BMI th percentile. In this study, the LD coefficients between the Taq1B and -629C > A polymorphisms seemed to be weak. Conclusion The absence the Taq1B2 allele was associated with CAD in the Chinese population only and the minor allele of the Taq1B polymorphism of the CETP gene was significantly associated with higher plasma HDL-C levels in Chinese men.

BACKGROUND Recent genome-wide association studies and meta-analyses have identified 47 susceptibility loci for ulcerative colitis (UC) in Caucasian populations. A previous genome-wide association study of UC in a Japanese population suggested marginal sharing of susceptibility loci between Caucasian and Asian populations. We performed a genome-wide association studies to identify UC susceptibility loci in a Korean population and further comparative study. METHODS We analyzed 581,060 autosomal single-nucleotide polymorphisms (SNPs) in 388 individuals with UC and 739 control subjects in the discovery stage. For the validation, 64 suggestive SNPs were analyzed in an additional 417 affected individuals and 732 control subjects. RESULTS Three genetic loci were validated for significant association, and all were previously reported in Caucasians including the major histocompatibility complex region (top SNP, rs9271366; P = 1.03 × 10(-18), odds ratio [OR] = 2.10), 16q24.1 (rs16940186; P = 4.39 × 10(-10), OR = 1.56), and RNF186-OTUD3-PLA2G2E at chromosome arm 1p36.13 (top SNP, rs4654903 in OTUD3; P = 7.43 × 10(-9), OR = 0.64). Although failed to reach genome-wide statistical significance, 2 additional loci previously reported in Caucasians including rs17085007 at chromosome arm 13q12 and JAK2 at chromosome arm 9p24 were significant after Bonferroni correction (P(corrected) = 0.0016 and P(corrected) = 0.0056, respectively). FOS, UBE2L3, the JAK2 gene region, and rs1297265 at chromosome arm 21q21.1 likely play a role in both Crohn's disease and UC. CONCLUSIONS Our data support the biologic significance of the overlapping loci for UC between Caucasian and Korean populations. Our data suggest that genetic associations for UC tend to overlap more extensively among different ethnic groups than those for Crohn's disease, which shows well-established dependence on ethnicity.

Consanguinity has been a long standing social habit among some Iranians. This study is aimed at determining the role of consanguinity on congenital malformations and the correlation of inbreeding coefficient with anomalies.In this cross-sectional study, all the newborns who were born during 9 months period from April to December 2008. (n=1195) at Shahid Sadoughi hospital, Yazd, Iran were studied.From 1195 neonates, 300 (25%) were from consanguineous marriages and 895 (75%) were from non-familial marriages. From 45 cases with anomalies, 34 (2.8%) cases were from familial marriages, while only 11 (0.9%) cases were from non-familial marriages. There was a significant correlation between parental marriages and the prevalence of anomaly (p=0.018).The prevalence of congenital anomalies was mostly observed in consanguineous marriages compared to non consanguineous marriages.

"nAim of this study is to determine the risk of adverse pregnancy outcome by maternal serum alpha-fetoprotein (MSAFP) level. We followed 295 pregnant women from MSAFP screening in the 14th to 22th week of gestation until the end of pregnancy and information on pregnancy outcome have been recorded in questionnaires. Of 295 pregnant women, 270 had term labor and 25 had preterm labor. The frequencies of pregnancy outcomes were as following: 3 (1.01%) stillbirths, 25(8.47%) preterm labor, and 10 (3.4%) preterm rupture of membranous (PROM), 15 (5.1%) pre-eclampsia, 23 (7.8%) oligohydramnious, and 1 (0.33%) miscarriage. The mean of preterm labor was significantly associated with the higher level of MSAFP (P =0.021). The mean was 55.1 ng/cc in preterm labor and 41.1 ng/cc in term labor. Also, second trimester MSAFP levels were higher in women with pre-eclampsia (P

Anti-Mullerian hormone is produced by the granulosa cells of preantral and small antral follicles. The objective of this study was to investigate whether anti-Mullerian hormone and antral follicle count can be useful in predicting the ovarian reserve and pregnancy outcome in assisted reproductive technology cycles.This prospective study included a total of 60 patients attending an assisted reproductive technology program. Patients with an oocyte count ofor=4 were considered good responders (group A); those with4 oocytes were considered as poor responders (group B). On day three of the menstrual cycle, blood sample was taken from each woman for the measurement of serum levels of FSH, LH, E2, and anti-Mullerian hormone. Thereafter, ovarian ultrasound scanning was performed to evaluate the number and size of antral follicles.Parameters such as serum FSH, LH, and E2 levels were not statistically different between the two groups. Meanwhile, the difference between serum anti-Mullerian hormone levels, AFC, HCG day follicle counts, and retrieved oocyte counts were statistically significant in the two groups. The mean+/-SD serum anti-Mullerian hormone level was 34.22+/-13.95 and 12.53+/-9.4 pM/mL in groups A and B, respectively (P=0.002). The number of chemical pregnancies was seven versus three in groups A and B, respectively (P=0.014), whereas the number of clinical pregnancies was six versus two in groups A and B, respectively (P =0.52).It appears that there is an association between the serum level of anti-Mullerian hormone in early follicular phase and ovarian reserve. Furthermore, a higher serum level of anti-Mullerian hormone on day three is associated with chemical pregnancy success.