A systematic review of the association between history of sexually transmitted infections and subsequent condom use in adolescents.

Sexually transmitted infections (STIs) are common among adolescents. According to the Health Belief Model, cues to action influence preventive behaviors. Cues to action can include health experiences such as being diagnosed with an STI. The impact of a history of STIs on subsequent condom use among adolescents remains largely unexamined, despite high rates of recurrence and their health impacts. This project aimed to systematically review the literature on the association between curable STIs and subsequent condom use among adolescents. The systematic review, reported following PRISMA guidelines, was conducted using the Joanna Briggs Institute method. Eligible studies, in the form of cohort studies, case-control studies, or cross-sectional studies, targeted adolescents aged 10 to 24, with or without a history of curable STIs; the outcome was subsequent condom use. MEDLINE (Ovid), Embase (Elsevier), and Web of Science were searched from January 2012 to December 2022 with the assistance of an information specialist. Two reviewers independently selected articles and extracted data. Risk of bias analysis was performed using ROBINS-E. The review explores results, with tables, based on population characteristics, exposure, and outcome, and addresses the influence of gender, ethnicity, and age. Of 3088 articles identified, seven studies were retained. Almost all the studies focused on African-American, Nigerian, or Rwandan adolescents, and several included only girls. Among girls, a history of STI increased subsequent condom use in combination with other contraceptive methods (n = 4). Among boys and older adolescents of both genders, a history of STI was associated with a decrease in condom use (n = 3). No study distinguished between different STIs. While all the studies (n = 7) presented a high risk of bias, six did not present a threat to conclusion validity. All the studies indicated that a history of STI could influence subsequent protective behaviors, possibly by acting as a cue to action, as posited by the Health Belief Model. This information enhances our understanding of factors leading to the adoption of preventive health measures among adolescents and could apply to other infectious experiences.Registration The protocol is registered in PROSPERO (CRD42023397443).

Assessment of burden and segregation profiles of CNVs in patients with epilepsy.

OBJECTIVE: Microdeletions are associated with different forms of epilepsy but show incomplete penetrance, which is not well understood. We aimed to assess whether unmasked variants or double CNVs could explain incomplete penetrance. METHODS: We analyzed copy number variants (CNVs) in 603 patients with four different subgroups of epilepsy and 945 controls. CNVs were called from genotypes and validated on whole-genome (WGS) or whole-exome sequences (WES). CNV burden difference between patients and controls was obtained by fitting a logistic regression. CNV burden was assessed for small and large (>1 Mb) deletions and duplications and for deletions overlapping different gene sets. RESULTS: Large deletions were enriched in genetic generalized epilepsies (GGE) compared to controls. We also found enrichment of deletions in epilepsy genes and hotspots for GGE. We did not find truncating or functional variants that could have been unmasked by the deletions. We observed a double CNV hit in two patients. One patient also carried a de novo deletion in the 22q11.2 hotspot. INTERPRETATION: We could corroborate previous findings of an enrichment of large microdeletions and deletions in epilepsy genes in GGE. We could also replicate that microdeletions show incomplete penetrance. However, we could not validate the hypothesis of unmasked variants nor the hypothesis of double CNVs to explain the incomplete penetrance. We found a de novo CNV on 22q11.2 that could be of interest. We also observed GGE families carrying a deletion on 15q13.3 hotspot that could be investigated in the Quebec founder population.

Polygenic risk scores of several subtypes of epilepsies in a founder population.

OBJECTIVE: Polygenic risk scores (PRSs) are used to quantify the cumulative effects of a number of genetic variants, which may individually have a very small effect on susceptibility to a disease; we used PRSs to better understand the genetic contribution to common epilepsy and its subtypes. METHODS: We first replicated previous single associations using 373 unrelated patients. We then calculated PRSs in the same French Canadian patients with epilepsy divided into 7 epilepsy subtypes and population-based controls. We fitted a logistic mixed model to calculate the variance explained by the PRS using pseudo-R2 statistics. RESULTS: We show that the PRS explains more of the variance in idiopathic generalized epilepsy than in patients with nonacquired focal epilepsy. We also demonstrate that the variance explained is different within each epilepsy subtype. CONCLUSIONS: Globally, we support the notion that PRSs provide a reliable measure to rightfully estimate the contribution of genetic factors to the pathophysiologic mechanism of epilepsies, but further studies are needed on PRSs before they can be used clinically.