scholarly journals The Effect of Experience Extension on The Activity of Calculating Fetal Movement Third Trimester of Primiparaous

2019 ◽  
Vol 9 (2) ◽  
pp. 142-147
Author(s):  
I Gusti Ayu Putu Sri Wahyuni ◽  
Fitra Arsy Nur Cory'ah
Keyword(s):  
Fetal Movement ◽  
Control Group ◽  
Third Trimester ◽  
Exact Test ◽  
Whitney Test ◽  
Fisher's Exact Test ◽  
Mann Whitney Test ◽  
The World ◽  
Fisher’S Exact Test ◽  
Fetal Motion

Based on research by the World Health Organization (WHO), around the world there are 10,000,000 infant deaths per year in Indonesia, among ASEAN countries, is the country with the highest perinatal mortality rate, meaning that the ability to provide health services still requires improvements that are comprehensive and of higher quality. Integrated ANC  services are also related to effective counseling activities in an effort to improve maternal knowledge about pregnancy care, especially the activity of calculating gesture). The purpose of this study is to determine the effect of experimental counseling fetal motion in third-trimester primigravida. The design in this study was pregnant post nonequivalent control group test. The study was conducted in Meninting Community Health Center, West Lombok Regency. The population of this study was the third trimester of pregnant women, namely 80 people. The sample of this study was 34 people. Test statistics using the Mann Whitney test and Fisher's Exact Test with confidence levels specified α = 0.05 and 95% confidence intervals. The results of the study with the Mann Whitney test P = 0,000 means that there is a significant difference between knowledge about calculating fetal motion in the case group compared to the control group and the Fisher's Exact Test P = 0,000 shows there is an influence of experimental counseling on the activity of calculating fetal movement. The recommendations of this study are to examine the effectiveness of calculating fetal motion for fetal distress.

scholarly journals Διερεύνηση του ρόλου των κατασταλτικών αυτοαντισωμάτων έναντι του υποδοχέα της θυρεοτρόπου ορμόνης ως αίτιου αποβολών στις εγκύους με θυρεοειδική αυτοανοσία

2013 ◽  
Author(s):  
Κωνσταντίνος Τουλής
Keyword(s):  
P Value ◽  
Exact Test ◽  
Whitney Test ◽  
Fisher's Exact Test ◽  
Mann Whitney Test ◽  
Fisher’S Exact Test

Σκοπός Με βάση περιπτώσεις μοριακού μιμητισμού μεταξύ των γλυκοπρωτεϊνών και των υποδοχέων τους, διατυπώσαμε την υπόθεση ότι αυτοαντισώματα έναντι του υποδοχέα της θυρεοτροπίνης (TSH-Rab) κατασταλτικού τύπου (blocking) πιθανά να έχουν δραστικότητα αποκλειστή επί του υποδοχέα της ανθρώπινης χοριακής γοναδοτροπίνης (LH/hCG-R) στο ωχρό σωμάτιο, το τελικό βιολογικό αποτέλεσμα της οποίας θα ήταν η απώλεια κύησης κατά το πρώτο τρίμηνο. Ο σκοπός της μελέτης ήταν η κλινική διερεύνηση της παραπάνω υπόθεσης και συγκεκριμένα η διερεύνηση της παρουσίας και εκτίμηση των συγκεντρώσεων bTSH-Rab στις γυναίκες με θυρεοειδίτιδα Hashimoto και ιστορικό καθ’ έξιν αποβολών (ασθενείς) και η σύγκριση τους με γυναίκες με θυρεοειδίτιδα Hashimoto και φυσιολογικό αναπαραγωγικό ιστορικό (μάρτυρες). Ασθενείς και Μέθοδοι Συνολικά επιλέχθηκαν 86 γυναίκες (46 ασθενείς και 46 μάρτυρες με ηλικιακή εξομοίωση) από εξωτερικά ιατρεία και κλινικές του Νομού Θεσσαλονίκης στο πλαίσιο αναδρομικής μελέτης τύπου ασθενών-μαρτύρων. Για τη συμπερίληψη στην ομάδα των ασθενών, η γυναίκα έπρεπε να είχε ηλικία μικρότερη των 35 ετών στην τελευταία αποβολή και κάτω των 50 ετών κατά την επιλογή, χωρίς να εντοπίζονταν από το ιστορικό, την κλινική εξέταση και τον κατά περίπτωση παρακλινικό έλεγχο, δευτεροπαθείς αιτίες καθ’ έξιν αποβολών. Σε υπο-ομάδα των ασθενών (n=15) πραγματοποιήθηκε ορμονολογική εκτίμηση υποφυσιακής λειτουργίας, διακολπικό υπερηχογράφημα πυέλου, καρυότυπο, ανίχνευση μεταλλάξεων του παράγοντα V, μέτρηση επιπέδων ομοκυστεΐνης, αυτοαντισωμάτων έναντι της διπλής έλικας του DNA, αντιπηκτικού του λύκου, β2-γλυκοπρωτείνης και αντικαρδιολιπινικών αντισωμάτων. Η στατιστική ανάλυση πραγματοποιήθηκε με το λογισμικό Stata 10.0 Αποτελέσματα Δεν ανιχνεύθηκε σημαντική διαφορά στον επιπολασμό (Fisher’s exact test, p-value = 1.00) ή στους τίτλους TSH-Rab μεταξύ των ασθενών και των μαρτύρων (Mann-Whitney test, p = 0.59). Οι αναλύσεις ευαισθησίας με βάση τους ορισμούς των καθ’ έξιν αποβολών, των αυτόματων αποβολών, της θυρεοειδίτιδας Hashimoto και της θετικότητας των TSH-Rab δεν τροποποίησαν την κατεύθυνση των ευρημάτων. Η απουσία συσχέτισης μεταξύ TSH-Rab και αναπαραγωγικού ιστορικού επιβεβαιώθηκε σε μονομεταβλητό μοντέλο λογαριθμικής παλινδρόμησης [OR = 1.00, 95% CI = 0.19-5.25], είτε όταν χρησιμοποιήθηκε ο τίτλος των TSH-Rab (OR = 0.77, 95% CI = 0.29 - 2.08). Η παρουσία των TSH-Rab δεν προέβλεψε με στατιστικώς σημαντικό τρόπο τον αριθμό των αυτόματων αποβολών στις ασθενείς (Coef = -0.4, 95% CI = -1.15 - 0.34, p = 0.285) και απουσία συσχέτισης επιβεβαιώθηκε όταν χρησιμοποιήθηκε ο τίτλος τους (Coef = -.0.53, 95% CI = -1.08 - 0.10, p = 0.054). Τα παραπάνω ευρήματα παρέμειναν ανθεκτικά στην ιεραρχική στάθμιση με την ηλικία και το ΒΜΙ κατά την τελευταία κύηση ή αποβολή σε πολυμεταβλητά μοντέλα παλινδρόμησης. Συμπεράσματα Στην παρούσα μελέτη, δεν προέκυψαν ενδείξεις ότι τα TSH-Rab έχουν σημαντικό ρόλο στην παθογένεια των αυτόματων αποβολών και δεν μπορεί να υποστηριχθεί η κλινική και ερευνητική χρησιμότητα της ανίχνευσής τους στις γυναίκες με θυρεοειδίτιδα Hashimoto και ιστορικό καθ’ έξιν αποβολών.

scholarly journals Detection of AZF microdeletions and reproductive hormonal profile analysis of infertile sudanese men pursuing assisted reproductive approaches

BMC Urology ◽  
2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Hassan Osman Alhassan Elsaid ◽  
Tarteel Gadkareim ◽  
Tagwa Abobakr ◽  
Eiman Mubarak ◽  
Mehad A. Abdelrhem ◽  
...  
Keyword(s):  
Y Chromosome ◽  
Klinefelter Syndrome ◽  
Semen Analysis ◽  
Control Group ◽  
Male Factor ◽  
Exact Test ◽  
Fisher's Exact Test ◽  
Infertile Men ◽  
Significant Difference ◽  
Fisher’S Exact Test

Abstract Background Male factor is the major contributor in roughly half of infertility cases. Genetic factors account for 10–15% of male infertility. Microdeletions of azoospermia factors (AZF) on the Yq region are the second most frequent spermatogenesis disorder among infertile men after Klinefelter syndrome. We detected in our previous study a frequency of 37.5% AZF microdeletions which investigated mainly the AZFb and AZFc. We attempted in this study for the first time to evaluate the frequencies of all AZF sub-regions microdeletions and to analyze reproductive hormonal profiles in idiopathic cases of azoospermic and oligozoospermic men from Sudan. Methods A group of 51 medically fit infertile men were subjected to semen analysis. Four couples have participated in this study as a control group. Semen analysis was performed according to WHO criteria by professionals at Elsir Abu-Elhassan Fertility Centre where samples have been collected. We detected 12 STSs markers of Y chromosome AZF microdeletions using a multiplex polymerase chain reaction. Analysis of reproductive hormone levels including Follicle Stimulating, Luteinizing, and Prolactin hormones was performed using ELISA. Comparisons between outcome groups were performed using Student’s t-test Chi-square test or Fisher’s exact test. Results AZF microdeletion was identified in 16 out of 25 Azoospermic and 14 out of 26 of the Oligozoospermic. Microdeletion in the AZFa region was the most frequent among the 30 patients (N = 11) followed by AZFc, AZFd (N = 4 for each) and AZFb (N = 3). Among the Oligozoospermic participants, the most frequent deletions detected were in the AZFa region (N = 10 out of 14) and was significantly associated with Oligozoospermic phenotype, Fisher's Exact Test (2-sided) p = 0.009. Among the Azoospermic patients, the deletion of the AZFc region was the most frequent (N = 9 out of 16) and was significantly associated with Azoospermia phenotype Fisher's Exact Test p = 0.026. There was a significant difference in Y chromosome microdeletion frequency between the two groups. The hormonal analysis showed that the mean levels of PRL, LH, and FSH in Azoospermic patients were slightly higher than those in oligozoospermic. A weak negative correlation between prolactin higher level and Azoospermic patients was detected. (AZFa r = 0.665 and 0.602, p = 0.000 and 0.0004, AZFb r = 0.636 and 0.409, p = 0.000 and 0.025, and AZFd r = 0.398 and 0.442, p = 0.029 and 0.015). The correlation was positive for AZFa and negative for AZFb and AZFd. Conclusions We concluded in this study that the incidences of microdeletions of the Y chromosome confined to AZF a, b, c and d regions is 58.8% in infertile subjects with 31.4% were Azoospermic and 27.5% were Oligozoospermic. This might provide a piece of evidence that these specified regions of the Y chromosome are essential for controlling spermatogenesis. These findings will be useful for genetic counseling within infertility clinics in Sudan and to adopt appropriate methods for assisted reproduction.

Prevalence of Listeria spp. on the Hands of Food Workers

1993 ◽  
Vol 56 (6) ◽  
pp. 525-527 ◽  
Author(s):  
K. G. KERR ◽  
D. BIRKENHEAD ◽  
K. SEALE ◽  
J. MAJOR ◽  
P. M. HAWKEY
Keyword(s):  
Listeria Monocytogenes ◽  
Food Production ◽  
Hand Washing ◽  
Control Group ◽  
Clerical Workers ◽  
Exact Test ◽  
Fisher's Exact Test ◽  
Plate Technique ◽  
Fisher’S Exact Test ◽  
Food Workers

The prevalence of carriage of Listeria spp. on the hands of food workers was investigated using a whole-hand impression plate technique. Ninety-nine workers engaged in food production and retailing were studied, with 75 clerical workers acting as control. Twelve (12%) of food workers carried Listeria spp., and 7 (7%) carried Listeria monocytogenes. None of the control group was positive for Listeria spp. Where the level of carriage was low (<20 CFU) hand washing eliminated the organisms, but hand washing was not successful if larger numbers of bacteria were present. In two instances hand washing appeared to have <u>caused</u> contamination of subjects' hands. Food workers are significantly more likely to carry Listeria spp. than clerical workers (P < 0.015 Fisher's exact test) and frequent hand washing represents an important element of hygiene which may interrupt transmission of these organisms.

scholarly journals Skeletal Anomalies and Normal Variants in Patients with Palatally Displaced Canines

2009 ◽  
Vol 79 (4) ◽  
pp. 727-732 ◽  
Author(s):  
Rosalia Leonardi ◽  
Ersilia Barbato ◽  
Maurizio Vichi ◽  
Mario Caltabiano
Keyword(s):  
Null Hypothesis ◽  
Control Group ◽  
Posterior Arch ◽  
Normal Variants ◽  
Chi Square ◽  
Exact Test ◽  
Skeletal Anomalies ◽  
Fisher's Exact Test ◽  
Ponticulus Posticus ◽  
Fisher’S Exact Test

Abstract Objective: To test the null hypothesis that there is no increased prevalence of skeletal anomalies and/or normal variants as evidenced by the cephalometric radiographs of patients with palatally displaced canines (PDC). Materials and Methods: The treatment records of 38 white subjects between 14 and 20 years old with PDC were collected and evaluated retrospectively. Inclusion criteria for the study required that the case records include good-quality panoramic radiographs and lateral cephalometric radiographs with the first four cervical vertebrae clearly visible. The anomalies recorded for each case included sella bridge, atlanto-occipital ligament calcification or ponticulus posticus, and posterior arch atlas deficiency. A control group consisted of 70 consecutively treated subjects who had no other dental anomalies and whose maxillary canines had erupted normally. Fisher's exact test and Pearson's chi-square test were used to determine possible statistically significant differences in the incidence of skeletal anomalies and/or normal variants between the group of patients with PDC and the control group. Results: The prevalence of skull anomalies and normal variants seen in cephalometric radiographs was increased in patients with PDC. Because of the presence of ponticulus posticus (Pearson's chi-square, P < .050; Fisher's exact test, P < .052), sella bridge (Pearson's chi-square, P < .042; Fisher's exact test, P < .042), and posterior arch deficiency (Pearson's chi-square, P < .047; Fisher's exact test, P < .039), statistically significant differences were observed between subjects with PDC and the control group. Conclusions: The null hypothesis was rejected. There is an increased prevalence of skull skeletal anomalies and/or normal variants in patients with PDC.

scholarly journals Increased Incidence of Perforated Appendicitis in Children During COVID-19 Pandemic in a Bavarian Multi-Center Study

2021 ◽  
Vol 9 ◽  
Author(s):  
Frank-Mattias Schäfer ◽  
Johannes Meyer ◽  
Stephan Kellnar ◽  
Jakob Warmbrunn ◽  
Tobias Schuster ◽  
...  
Keyword(s):  
Open Surgery ◽  
Perforated Appendicitis ◽  
Control Group ◽  
Delayed Presentation ◽  
Perforation Rate ◽  
Exact Test ◽  
Fisher's Exact Test ◽  
Fisher’S Exact Test ◽  
Multi Center Study ◽  
Center Study

Introduction: Since early 2020 the COVID-19 pandemic and statutory preventive reorganization of treatment capacities with cancellation of elective surgery as well as curfew regulations led to vastly decreased utilization of primary health care.Materials and Methods: To assess whether there are negative effects on pediatric acute care in Bavaria during the spring 2020 lockdown a state-wide retrospective multi-center study was performed to analyze the rate of perforated appendicitis during lockdown. Children who have been operated on during the corresponding period in 2018/19 served as control group.Results: Overall, 514 patients (292 boys, 222 girls) were included (2020: 176 patients; 2019: 181 patients; 2018: 157 patients). Median age was 11.2 years. Four hundred thirty-nine patients (85.4%) underwent laparoscopic surgery, 69 (13.4%) open surgery and 1.2% underwent conversion from laparoscopic to open surgery. In 2020 a perforation rate of 27.8% (49/176 patients) was found, in 2018–2019 perforation rate was 20.7% (70/338 patients, p = 0.0359, Cochran-Mantel-Haenszel-Test). Subgroup analysis showed that in younger patients (≤ 11.2 years), in 2020 perforation rate was significantly higher with 37.6% (32/85 patients), while 22.2% (39/176) in 2018/2019 (p = 0.014, Fisher's exact test).In boys perforation rate was significantly higher in 2020 with 35.0% (35/100 patients) compared to 21.4% in 2018–2019 (p = 0.0165, Fisher's exact test).Conclusion: During the period of curfew regulations in Bavaria the rate of perforated appendicitis in childhood increased significantly, especially in younger children and boys. Potentially this has to be attributed to delayed presentation to pediatric surgery care. Because of potential long-term sequelae of perforated appendicitis these adverse effects during curfew have to be taken into account for future political decision making to ensure reasonable patient care and avoid collateral damage in near-future or on-going pandemic situations.

Serum Tryptase Levels in AML at Diagnosis: A Multicenter Retrospective Study.

Blood ◽  
2006 ◽  
Vol 108 (11) ◽  
pp. 2358-2358 ◽  
Author(s):  
Roberto Cairoli ◽  
Carla B. Ripamonti ◽  
Simonetta Granata ◽  
Alessandro Beghini ◽  
Patrizia Colapietro ◽  
...  
Keyword(s):  
Elevated Serum ◽  
Leukemia Cell ◽  
Total Serum ◽  
Control Group ◽  
Serum Tryptase ◽  
Kit Mutation ◽  
Exact Test ◽  
Fisher's Exact Test ◽  
Mutational Status ◽  
Fisher’S Exact Test

Abstract α and β-tryptase genes cluster on the short arm of human chromosome 16 and encode lineage-associated serine proteases that are abundantly expressed in mast-cells and, in trace amounts, in basophils. Under physiologic conditions no other myeloid cells express tryptases. However, in several myeloid leukemia cell lines and in AML blasts, the level of tryptase is elevated. In an attempt at correlating the levels of tryptase with cytogenetic features and the KIT and FLT3 mutational status, we analyzed serum samples collected at diagnosis from 150 AML and 57 ALL adult patients. The total serum concentration was determined by UniCAP 100 and UniCAP Tryptase Fluorenzyme Immunoassay Kit (Pharmacia-Upjohn, Uppsala, Sweden). The median value of tryptase level in the control group (50 healthy people; mean age 35 y, range 20–50; M/F= 26/24) amounted to less than 5 ng/ml, ranging from 1 to 15 ng/ml. We detected elevated tryptase levels (more than 15 ng/ml) in 66 out of 150 AML-patients (44%) and in 1 out of 57 ALL-patients (1.75%; median value 1.2 ng/ml) (p = < 0.0005, Fisher’s exact test ). In AMLs data showed that elevated tryptase values are significantly bound to patients with t(8;21) (n = 26, p = <0.0001) and inv(16) (n = 17, p = 0.035). Furthermore, we found a strong correlation between tryptase < 15 ng/ml and normal karyotype (n = 58 ; p = <0.0001). By contrast, we didn’t find any correlation between the levels of tryptase and t(15;17) (n = 12, p = 0.227), abnormal chr 5 or 7 (n = 9, p = 0.507), +8 (n = 6, p = 0.229), complex karyotype (n = 9, p = 1.000) or other abnormalities (n = 14, p = 0.778). A mutational screening for KIT (exon 2,8,10,11,and 17) and FLT3 (exon 14,15 and 20) was performed on 67/150 (45%) and 82/150 (55%) patients with AML, respectively. We recorded a significant association between high tryptase levels and the presence of KIT mutation (Fisher’s exact test: p = 0.012). No correlation was found between levels of tryptase and FLT3 mutational status (Fisher’s exact test: p = 0.803).In conclusion, data suggest that elevated serum tryptase levels at diagnosis are frequently associated with Core Binding Factor and with KIT mutated AML’s.

scholarly journals Error-Based Teaching Approach Decreases Vessel Anastomosis Errors: A Pilot Study

2019 ◽  
Vol 04 (02) ◽  
pp. e73-e76
Author(s):  
Eric de Haas ◽  
Jill P. Stone ◽  
William de Haas ◽  
Christiaan H. Schrag
Keyword(s):  
Traditional Education ◽  
Control Group ◽  
P Value ◽  
Live Animal ◽  
Exact Test ◽  
Fisher's Exact Test ◽  
Surgical Residents ◽  
Synthetic Materials ◽  
Fisher’S Exact Test ◽  
To Receive

Abstract Background Microsurgical anastomosis of vessels is a challenging skill that surgical residents should practice on models before attempting in the clinical setting. These skills are often taught using synthetic materials, animal tissue, or live animal models. With increasing constraints on surgical resident's time, it is important to maximize efficiency of microsurgical training. The purpose of this study is to determine if teaching surgical residents about common vessel anastomosis errors decreases the total number of suture errors during a 4-day training course. Methods Plastic surgery residents (R1–R3) were randomly assigned to receive additional teaching focused on either common microsurgical errors or traditional microsurgical manuals. The residents then performed anastomosis on rat femoral arteries in which the total number of sutures and errors were recorded by staff microsurgeons who were blinded to the intervention. Results Residents who received teaching on common microsurgical errors performed a total of 73 sutures of which 12 were errors. The control group who studied using traditional microsurgical manuals performed a total of 125 sutures of which 38 were errors. There was a statistically significant decrease in the total number of suture errors (Fisher's exact test; p-value = 0.04) and in the number of partial depth bite errors (Fisher's exact test p-value = 0.03). Conclusion Teaching surgical residents about common vessel anastomosis errors decreased the total number of errors when compared with traditional education methods using microsurgery manuals. Partial depth bite errors were also decreased through error-based teaching.

Efektifitas Penggunaan Metode Pembelajaran Simulasi Dengan Latihan Terhadap Keterampilan Pengisian Partograf Pada Mahasiswa Semester II Di Prodi Kebidanan (D-III) Universitas Kadiri Tahun 2015

2017 ◽  
Vol 4 (1) ◽  
pp. 12
Author(s):  
Dessy Lutfiasari ◽  
Mahmudah Mahmudah
Keyword(s):  
Current Method ◽  
Skills Training ◽  
Health Sciences ◽  
Control Group ◽  
Learning Methods ◽  
Control Group Design ◽  
Significance Level ◽  
Whitney Test ◽  
Mann Whitney Test ◽  
Training Simulation

The use of the current method of learning very big influence on the growth and development of students' creativity and interest for all subjects to be taught, especially in the use of partograf. From interviews to the 10 students of IV semester Prodi Midwifery (D-III) Kadiri University is known that 4 (40%) of students said it was understood, 4 (40%) of other students say they are confused and 2 (20%) of them said that he was a student not familiar with partograf. This shows the lack of understanding of students in filling partograph. The research objective is to determine the effectiveness of the use of learning methods for skills training simulation with filling partograph the second semester students in Midwifery (D-III) Kadiri University Faculty of Health Sciences in 2015. The research design used is pre experiment with design Static Group Comparison/Posttest Only Control Group Design. The population studied were all students of the second semester in Midwifery (D-III) Faculty of Health Sciences University of Kadiri numbered 50 students and sampling techniques Federer totaled 32 students. This is a research instrument partograph sheet. Results of the study were analyzed using the Mann Whitney test with a significance level of 0.05 were used.The results showed 7 respondents (46.7%) are adept at using partograf with simulation teaching methods and 6 respondents (40.0%) are adept at using partograph with practice learning methods. Data were analyzed by Mann Whitney test obtained ρ = 0.965; α = 0.05 means that H0 is accepted and H1 rejected. This means there is no difference in the effective use of learning methods for skills training simulation with partograph filling. Based on the results of this study are expected to choose the method of learning as a learning method in charging partograph because both methods equally effective.; Keywords: simulation methods, drilling methods, partograph filling

scholarly journals TERT promoter hotspot mutations and gene amplification in metaplastic breast cancer

2021 ◽  
Vol 7 (1) ◽  
Author(s):  
Edaise M. da Silva ◽  
Pier Selenica ◽  
Mahsa Vahdatinia ◽  
Fresia Pareja ◽  
Arnaud Da Cruz Paula ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Gene Amplification ◽  
Genetic Alterations ◽  
Wild Type ◽  
Histologic Subtype ◽  
Exact Test ◽  
Fisher's Exact Test ◽  
Fisher’S Exact Test ◽  
Hotspot Mutations ◽  
Or Gene

AbstractMetaplastic breast cancers (MBCs) are characterized by complex genomes, which seem to vary according to their histologic subtype. TERT promoter hotspot mutations and gene amplification are rare in common forms of breast cancer, but present in a subset of phyllodes tumors. Here, we sought to determine the frequency of genetic alterations affecting TERT in a cohort of 60 MBCs with distinct predominant metaplastic components (squamous, 23%; spindle, 27%; osseous, 8%; chondroid, 42%), and to compare the repertoire of genetic alterations of MBCs according to the presence of TERT promoter hotspot mutations or gene amplification. Forty-four MBCs were subjected to: whole-exome sequencing (WES; n = 27) or targeted sequencing of 341-468 cancer-related genes (n = 17); 16 MBCs were subjected to Sanger sequencing of the TERT promoter, TP53 and selected exons of PIK3CA, HRAS, and BRAF. TERT promoter hotspot mutations (n = 9) and TERT gene amplification (n = 1) were found in 10 of the 60 MBCs analyzed, respectively. These TERT alterations were less frequently found in MBCs with predominant chondroid differentiation than in other MBC subtypes (p = 0.01, Fisher’s exact test) and were mutually exclusive with TP53 mutations (p < 0.001, CoMEt). In addition, a comparative analysis of the MBCs subjected to WES or targeted cancer gene sequencing (n = 44) revealed that MBCs harboring TERT promoter hotspot mutations or gene amplification (n = 6) more frequently harbored PIK3CA than TERT wild-type MBCs (n = 38; p = 0.001; Fisher’s exact test). In conclusion, TERT somatic genetic alterations are found in a subset of TP53 wild-type MBCs with squamous/spindle differentiation, highlighting the genetic diversity of these cancers.

scholarly journals Association of P10L Polymorphism in Melanopsin Gene with Chronic Insomnia in Mexicans

2021 ◽  
Vol 18 (2) ◽  
pp. 571
Author(s):  
Bianca Ethel Gutiérrez-Amavizca ◽  
Ernesto Prado Montes de Oca ◽  
Jaime Paul Gutiérrez-Amavizca ◽  
Oscar David Castro ◽  
Cesar Heriberto Ruíz-Marquez ◽  
...  
Keyword(s):  
Statistical Power ◽  
Medical Condition ◽  
Severity Index ◽  
Recessive Model ◽  
Chronic Insomnia ◽  
Exact Test ◽  
Fisher's Exact Test ◽  
Increased Risk ◽  
Fisher’S Exact Test ◽  
And Function

The aim of this pilot study was to determine the association of the P10L (rs2675703) polymorphism of the OPN4 gene with chronic insomnia in uncertain etiology in a Mexican population. A case control study was performed including 98 healthy subjects and 29 individuals with chronic insomnia not related to mental disorders, medical condition, medication or substance abuse. Samples were genotyped by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). Genetic analyses showed that the T allele of P10L increased risk to chronic insomnia in a dominant model (p = 1 ×10−4; odds ratio (OR) = 9.37, CI = 8.18–335.66, Kelsey statistical power (KSP) = 99.9%), and in a recessive model (p = 7.5 × 10−5, OR = 9.37, KSP = 99.3%, CI = 2.7–34.29). In the insomnia group, we did not find a correlation between genotypes and chronotype (p = 0.219 Fisher’s exact test), severity of chronic insomnia using ISI score (p = 0.082 Fisher’s exact test) and ESS score (p ˃ 0.999 Fisher’s exact test). However, evening chronotype was correlated to daytime sleepiness severity, individuals with an eveningness chronotype had more severe drowsiness according to their insomnia severity index (ISI) score (p = 0.021 Fisher’s exact test) and Epworth sleepiness scale (ESS) score (p = 0.015 Fisher’s exact test) than the morningness and intermediate chronotype. We demonstrated that the T allele of the P10L polymorphism in the OPN4 gene is associated with chronic insomnia in Mexicans. We suggest the need to conduct larger studies in different ethnic populations to test the probable association and function of P10L and other SNPs in the OPN4 gene and in the onset of chronic insomnia.

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