scholarly journals Analysis of Polymorphism rs1042522 in TP53 Gene in the Mothers of Twins and of Singletons: A Population-Based Study in Rio Grande do Sul, Brazil

2017 ◽  
Vol 20 (2) ◽  
pp. 132-136 ◽  
Author(s):  
Ana C. Mardini ◽  
Fernanda S. Pereira ◽  
Lavínia Schuler-Faccini ◽  
Ursula Matte

Although the birth of twins has always attracted attention, there are no known genetic or environmental factors that can determine the birth of monozygotic (MZ) twins. And even for dizygotic (DZ) twins, genetic influences are not completely understood. A previous study from our group has shown that the C allele of polymorphism rs1042522 in the TP53 gene was more frequent in the mothers of twins than in the mothers of singletons in a small village in South Brazil. In order to clarify whether this was an isolated factor, we performed a population-based, observational case-control study. Samples were selected from a state-funded program of paternity investigation. Samples were considered cases when two of the children had the same date of birth, whereas controls were those samples in which at least two children were born in different dates. The first subsequent sample fulfilling control criteria was included after each case. From 2007 to 2013, 32,661 records were searched and 283 (0.9%) twins were found (119 MZ and 164 DZ). Genotypic and allele frequencies were not different between mothers of twins or mothers of singletons. However, mothers of MZ twins showed a higher frequency of GG genotype and lower frequency of the C allele when compared to mothers of DZ twins. Also, the proportion of MZ twins (42%) was higher than usually reported (30%). Finally, the proportion of twins found in this study seems to be more realistic, as this sample was allegedly not from users of assisted reproduction techniques.

2020 ◽  
pp. 096914132095344
Author(s):  
Alejandra Castanon ◽  
Shama Sheikh ◽  
Philippa Pearmain ◽  
Peter Sasieni

Background English cervical screening programme guidelines changed between 2009 and 2012. We explore the impact on the age and intervals at which women receive a cytology test. Methods Eligible women were controls from a population-based case–control study in England. Tests taken between 1980 and 2017 were extracted from the call/recall database. Using the Kaplan–Meier estimator by birth cohort and age at (or time since) last test, we explore proportions tested since or prior to a given age, years since previous test, and interval following a negative test. Results Screening histories from 46,037 women were included. Proportion tested by age 26 has increased from 55% among birth cohorts 1978–1979 to 67% among those born 1990–1991, despite more recent cohorts only having received one invitation (instead of two) prior to age 26. The proportion of women tested at aged 28 with a test three years earlier increased by 20% (from 36% in 1997–2006 to 56% in 2012–2017) whereas the proportion tested at ages 23–27 without a prior test increased from 34% to 80%. The age at last test prior to exiting the programme has decreased: among those born 1928–1931 86% had a test aged 60–65, but only 71% of those born 1947–1951. Conclusion Clear programme guidance alongside quality assurance has improved the cervical screening programme by standardising the age and intervals at which women are screened.


Blood ◽  
2013 ◽  
Vol 122 (18) ◽  
pp. 3210-3219 ◽  
Author(s):  
Maria Carolina Pintao ◽  
Daniel D. Ribeiro ◽  
Irene D. Bezemer ◽  
Andrea A. Garcia ◽  
Marieke C. H. de Visser ◽  
...  

Key PointsLow free protein S and low total protein S levels could not identify subjects at risk for venous thrombosis in a population-based study. Protein S testing and subsequent testing on PROS1 mutations should not be considered in unselected patients with venous thrombosis.


2020 ◽  
pp. jrheum.201025
Author(s):  
Javier Narváez ◽  
Judit Lluch ◽  
Alejandro Ruiz-Majoral ◽  
Miguel Angel Sánchez-Corral ◽  
Eduard Claver ◽  
...  

Objective To investigate the prevalence, severity and associated clinical factors of mitral and aortic valvular involvement in patients with systemic sclerosis (SSc). Methods This case–control study included 172 patients with SSc and 172 non-SSc adults without known cardiac disease matched by age, gender, and prevalence of cardiovascular risk factors. The screening of mitral and aortic valvular involvement was performed by transthoracic Doppler echocardiogram. The prevalence of aortic stenosis (AS) was also compared with that reported in a population-based study performed in our community during the same period. Results SSc patients showed an almost 5-fold increased prevalence of moderate-to-severe mitroaortic valve dysfunction compared to non-SSc controls (OR: 4.60, 95% CI 1.51–13.98; p=0.003). The most common lesion was mitral regurgitation (MR), which was observed in 5.2% of patients, followed by AS in 3.5%, and aortic regurgitation (AR) in 1.7%. Analyzing the different types of valvular lesion separately, we observed a significantly higher frequency of MR compared to controls (OR:4.69, 95% CI:1.12–22.04; p= 0.032), as well as a higher frequency of AS in the 65-75 (OR: 7.51, 95% CI:1.22–46.23, p=0.01) and 76-85 year-old age groups (OR:3.53, 95% CI:1.03–12.22, p=0.043) when compared to the general population in our community. Conclusion We found an increased prevalence of moderate-to-severe MR and AS in SSc compared to age-matched non-SSc controls with similar cardiovascular comorbidities. While results from this study do not allow to establish a direct causal relationship, they strongly support


Neurology ◽  
1988 ◽  
Vol 38 (3) ◽  
pp. 490-490 ◽  
Author(s):  
N. E. Bharucha ◽  
E. P. Bharucha ◽  
A. E. Bharucha ◽  
A. V. Bhise ◽  
B. S. Schoenberg, MD, DrPH

2016 ◽  
Vol 38 (1) ◽  
pp. 45-52 ◽  
Author(s):  
Jennifer L. Kuntz ◽  
Jennifer M. Baker ◽  
Patricia Kipnis ◽  
Sherian Xu Li ◽  
Vincent Liu ◽  
...  

BACKGROUNDConsiderable efforts have been dedicated to developing strategies to prevent and treat recurrentClostridium difficileinfection (rCDI); however, evidence of the impact of rCDI on patient healthcare utilization and outcomes is limited.OBJECTIVETo compare healthcare utilization and 1-year mortality among adults who had rCDI, nonrecurrent CDI, or no CDI.METHODSWe performed a nested case-control study among adult Kaiser Foundation Health Plan members from September 1, 2001, through December 31, 2013. We identified CDI through the presence of a positive laboratory test result and divided patients into 3 groups: patients with rCDI, defined as CDI in the 14–57 days after initial CDI; patients with nonrecurrent CDI; and patients who never had CDI. We conducted 3 matched comparisons: (1) rCDI vs no CDI; (2) rCDI vs nonrecurrent CDI; (3) nonrecurrent CDI vs no CDI. We followed patients for 1 year and compared healthcare utilization between groups, after matching patients on age, sex, and comorbidity.RESULTSWe found that patients with rCDI consistently have substantially higher levels of healthcare utilization in various settings and greater 1-year mortality risk than both patients who had nonrecurrent CDI and patients who never had CDI.CONCLUSIONSPatients who develop an initial CDI are generally characterized by excess underlying, severe illness and utilization. However, patients with rCDI experience even greater adverse consequences of their disease than patients who do not experience rCDI. Our results further support the need for continued emphasis on identifying and using novel approaches to prevent and treat rCDI.Infect Control Hosp Epidemiol.2016;1–8


2005 ◽  
Vol 173 (4S) ◽  
pp. 146-146
Author(s):  
Eric J. Bergstralh ◽  
Rosebud O. Roberts ◽  
Michael M. Lieber ◽  
Sara A. Farmer ◽  
Jeffrey M. Slezak ◽  
...  

Endoscopy ◽  
2006 ◽  
Vol 37 (12) ◽  
Author(s):  
L Sharp ◽  
LF Masson ◽  
J Little ◽  
NT Brockton ◽  
SC Cotton ◽  
...  

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