A reference haplotype panel for genome-wide imputation of short tandem repeats.

Short tandem repeats (STRs) are involved in dozens of Mendelian disorders and have been implicated in complex traits. However, genotyping arrays used in genome-wide association studies focus on single nucleotide polymorphisms (SNPs) and do not readily allow identification of STR associations. We leverage next-generation sequencing (NGS) from 479 families to create a SNP + STR reference haplotype panel. Our panel enables imputing STR genotypes into SNP array data when NGS is not available for directly genotyping STRs. Imputed genotypes achieve mean concordance of 97% with observed genotypes in an external dataset compared to 71% expected under a naive model. Performance varies widely across STRs, with near perfect concordance at bi-allelic STRs vs. 70% at highly polymorphic repeats. Imputation increases power over individual SNPs to detect STR associations with gene expression. Imputing STRs into existing SNP datasets will enable the first large-scale STR association studies across a range of complex traits

Docetaxel Enhances the Expression of STING Protein in PC3 Cells, and cGAMP Attenuates this Effect

Background: The stimulator of interferon genes (STING) agonist (cGAMP) kills the cancer cells through the activation of the innate immune system. PC3 cells are high in BTK and low in STING. In this study, the effect of adding STING agonist, cGAMP, to docetaxel investigated. Materials and Methods: PC3 cells were treated with docetaxel, cGAMP, and a combination of the docetaxel and cGAMP. Cell toxicity was evaluated by MTT assay, and changes of STING, IRF3, BTK, and DDX41 genes’ expression were quantified by the real-time PCR. STING protein was also detected by Western blotting. Results: The IC50 of docetaxel was 31.1 nM, and cGAMP did not change it significantly but decreased docetaxel toxicity about 30%. Docetaxel increased IRF3, BTK, and DDX41 gene expression significantly, and STING protein about 5 folds. By adding cGAMP to docetaxel STING, IRF3, and BTK, expression decreased several folds. Conclusion: In this in vitro study, cGAMP potentiated docetaxel’s effects and alleviated it

The Diagnostic Value of Anthropometric Characteristics of Ilium for Sex Estimation Using Pelvic Radiographs

Background: Sex estimation is an essential part of forensic identification. This study was conducted on the Iranian people to determine pelvic bones anthropometric characteristics.Methods: Radiography of 180 pelvic bones (90 males and 90 females) was studied. We measured the height of ilium, inter-acetabular distance, acetabular diameter, the greatest breadth of the pelvis, breadth of pelvic inlet, and the presence of the beaklike bony extension in both sexes.Results: We found a significant difference between men and women regarding their mean height of ilium, acetabular diameter, inter-acetabular distance, breadth of the pelvic inlet in all studied X-rays. The highest accuracy for sex estimation was related to the height of ilium (77%). The prevalence of the beaklike bony extension was 43% in the studied population, 70% in males and 18% in females.Conclusion: When human skeletal remains containing pelvic bones are available, standard radiographic images along with other findings can be helpful in predicting the sex.                                                     

Can primary optimal cytoreduction be predicted in advanced epithelial ovarian cancer preoperatively?

<p>Abstract</p> <p>Introduction</p> <p>Prediction of optimal cytoreduction in patients with advanced epithelial ovarian caner preoperatively.</p> <p>Methods</p> <p>Patients with advanced epithelial ovarian cancer who underwent surgery for the first time from Jan. to June 2008 at gynecologic oncology ward of TUMS (Tehran University of Medical Sciences) were eligible for this study. The possibility of predicting primary optimal cytoreduction considering multiple variables was evaluated. Variables were peritoneal carcinomatosis, serum CA125, ascites, pleural effusion, physical status and imaging findings.</p> <p>Univariate comparisons of patients underwent suboptimal cytoreduction carried out using Fisher's exact test for each of the potential predictors. The wilcoxon rank sum test was used to compare variables between patients with optimal versus suboptimal cytoreduction.</p> <p>Results</p> <p>41 patients met study inclusion criteria. Statistically significant association was noted between peritoneal carcinomatosis and suboptimal cytoreduction. There were no statistically significant differences between physical status, pleural effusion, imaging findings, serum CA125 and ascites of individuals with optimal cytoreduction compared to those with suboptimal cytoreduction.</p> <p>Conclusions</p> <p>Because of small populations in our study the results are not reproducible in alternate populations. Only the patient who is most unlikely to undergo optimal cytoreduction should be offered neoadjuvant chemotherapy, unless her medical condition renders her unsuitable for primary surgery.</p

Radical hysterectomy in the elderly

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Association between Social Support and Quality of Life of Postmenopausal Women

Background & aim: With the growing elderly population, addressing the personal and social aspects of menopausal women is vital. Paying attention to their quality of life and solving their physical, mental and social problems can be effective in improving the health of the family and ultimately the society. This study aimed to determine the relationship between social support and quality of life in postmenopausal women.Methods: The present study was a cross-sectional study that was conducted on 158 women. Sampling was stratified with proportional allocation method between February 2019 and August 2019 in Mahshahr health centers. The data collection tools were the demographic profile questionnaire, the Menopause Quality of Life (MENQOL) and the Phillips Social Support Questionnaire. The data were analyzed using SPSS statistical software (version 24). Pearson's, ANOVA, linear regression tests were used to analyse data.Results:  The average score of social support and quality of life was 84.13±10.99 (range 34-112) and 58.30±30.69 (range 110-49), respectively. There was a significant correlation between the quality of life and social support (P=0.0001). In terms of quality of life dimensions, a significant relationship was observed between social support with psychosocial (P=0.001) and physical dimension (P=0.003).Conclusion: According to the significant relationship between social support and quality of life, it seems that providing social support by the family and surrounding people can be effective in improving the quality of life of postmenopausal women

Comparing the Accuracy of Morphometric and Morphological Criteria of Hip Bone in Gender Determination

Background: A primary aim of forensic medicine is gender determination. Although hip is the optimal bone for this purpose, different determining criteria of this bone do not have the same accuracy. This is important in conditions that only parts of hip remain to determine gender. This study aimed to evaluate the accuracy of different hip criteria in gender determination. Methods: This cross-sectional study evaluated a total of 160 paired hips (80 males and 80 females) removed from the bodies for bone transplantation. Morphometric criteria were vertical and horizontal acetabular diameters and superior and inferior pubic ramus widths. Morphological criteria were a greater sciatic notch, obturator foramen, pubic body, preauricular sulcus, acetabular fossa position, and ischial tuberosity. The obtained data were analyzed using Cross Tab, t-test, and logistic regression analysis by SPSS. The significance level was set at P&lt;0.05.Results: There was no significant difference in morphometric and morphological criteria between the studied left and right hip bones (P&gt;0.05). In gender determination, acetabular diameter and greater sciatic notch had the highest accuracy (85%), and obturator foramen (67.5%) and superior and inferior pubic ramus widths (65%) had the lowest accuracy.Conclusion: Hip bone is not always completely available and preserved to determine gender. Moreover, sometimes not all anthropometric criteria of the bone are in favor of one gender. Therefore, investigating the accuracy of different criteria can be very important in interpreting the results. Thus, it has always been emphasized on the use of all available information in gender determination

Collo-Diaphyseal Angle as an Optimal Anthropometric Criterion of Femur in Gender Determination

Background: Gender determination is an important challenge in the identification of skeletal remnants and dismembered bodies. The femur bone is more likely to be preserved during accidents and over time; thus, it is one of the most useful bones in gender determination.Methods: This cross-sectional study was conducted on 54 fresh femur pairs of ˃19-year-old Iranians without anomalies or trauma. We studied the length of the femur, vertical head diameter, bicondylar width, shaft angle with the horizon, and collo-diaphyseal angle in male and female samples. Data were analyzed in SPSS using t-test and Receiver Operating Characteristic curves. P&lt;0.05 was considered as statistically significant.Results: The samples’ mean age was 37 years in males and 41 years in females. The mean values of measurements were not significantly different between the left and right femurs (P&gt;0.05). The vertical head diameter, maximum length, bicondylar width, and the shaft angle were significantly larger in the males, compared to females. The mean degree of collo-diaphyseal angle was significantly wider in females, compared to males (P&lt;0.05). The highest precision of gender differentiation belonged to the collo-diaphyseal angle (96.3%) and the lowest one belonged to the vertical head diameter (77.8%).Conclusion: Based on our findings, even with the existence of only one femur bone, gender determination can be achieved with high precision. Collo-diaphyseal angle would be helpful in gender determination, even with the sole availability of the proximal part of the femur

Nurse-Patient Perception of Stressors in Patients Undergoing Coronary Artery Bypass Surgery at Shahid Madani Teaching Hospital in Tabriz in 2011

Objective: Cardiac surgery due to its-associated stressors has the potential physiological, psychological, emotional, and spiritual consequences. Assessment of stressors needs to nurses and patients understanding these factors that are different from each other. The aim of this study was to determine nurse-patient perception of stressful factors in patients undergoing coronary artery bypass surgery (CABG). Materials and Methods: It was a descriptive comparative study on patients who underwent CABG and were hospitalized at cardiac surgery wards between the third and fifth days after operation and also on nursing caregivers of these patients working in these wards. The Revised Cardiac Surgery Stressor Scale (RCSSS) was used for assessing related stressors after determining its reliability and validity. The data analysis was performed by SPSS and with descriptive statistical methods (frequency, percent, mean ± standard deviation) and inferential statistical analysis was performed. Results: According to overall mean RCSSS score, the perception of stressors in nurses was significantly higher than patients (2.38 ± 0.56 versus 1.65 ± 0.44) and the nurse-patient understanding was different for interpersonal, intrapersonal, and extra-personal stressors. Conclusion: According to the results, nurses can generally assess their patients in terms of interpersonal, intrapersonal, and extra-personal stressors and train them according to the needs of patients. It can help them to personal assessment of the patients and facilitate their adaptation

Comparative proteomic profiling of Leishmania tropica: investigation of a case infected with simultaneous cutaneous and viscerotropic leishmaniasis by 2-dimentional electrophoresis and mass spectrometry

Background: Viscerotropic leishmaniasis caused by Leishmania tropica poses a significant prob­lem in the diagnosis and treatment management. Since differential gene expression is more im­portant in outcome of the infection, we employed proteomic approach to identify potential pro­teins involved in visceralization of L. tropica. Methods: The proteomes profiling of L. tropica isolated from cutaneous and visceral tissues of one host were compared by 2-DE/MS proteomics study. Moreover, the transcript level of some identified proteins was confirmed using real-time RT-PCR. Results: Of the 700 protein spots that were detected reproducibly on each gel, 135 were found to be differentially expressed (P≤ 0.05). Most of responsive proteins in visceral isolate changed in less abundant compared to cutaneous isolate. Among differentially expressed proteins, 56 proteins were confidently identified and classified according to the biological process. The larg­est groups consist of proteins involved in carbohydrate metabolism and protein synthesis. Most of the identified proteins, which implicated in energy metabolism, cell signaling and virulence were down-regulated, whereas some proteins that have a role in protein folding, antioxidant defense and proteolysis were up-regulated in visceral form. Moreover, the transcript level of some identified proteins such as co-chaperon was confirmed using real-time RT-PCR. Conclusion: L. tropica probably uses different mechanisms for survival and multiplication in viscera to establish viscerotropic leishmaniasis. The current study provides some clues into the mechanisms underlying the dissemination of L. tropica