Background: This study investigated the association of angiotensin–converting enzyme (ACE I/D) and aldosterone synthase (CYP11B2-344C/T) gene polymorphisms in the renin–angiotensin–aldosterone system (RAAS) with atrial fibrillation (AF) in the Tunisian population. Materials and Methods: The study population included 120 patients with AF and 123 age-matched controls. Genotyping of the I/D polymorphism in the ACE gene and the -344C/T polymorphism in the CYP11B2 gene was performed by polymerase chain reaction (PCR) and PCR-RFLP methods, respectively. Results: The genotype distribution of the ACE I/D and CYP11B2-344C/T polymorphisms was significantly different between AF patients and control participants ( p < 0.01 and p < 0.006 respectively). In addition, ACE I/D increased the risk of AF significantly by 3.41-fold for the DD genotype (OR = 3.41; 95% CI [1.39–8.34]; p < 0.007), and after adjusting for confounding factors (age, diabetes, hypertension, and dyslipidemia), the risk was higher (OR = 5.71; 95% CI [1.48–21.98]; p < 0.01). Likewise, the CYP11B2-344C/T polymorphism increased the incidence of AF for the TT genotype (OR = 3.66; 95% CI [1.62–8.27]; p < 0.002) and the CT genotype (OR = 2.68; 95% CI [1.22–5.86]; p < 0.01). After adjusting for confounding factors (age, diabetes, hypertension and dyslipidemia), the risk remained higher for the TT genotype (OR = 3.58; 95% CI [1.08–11.77]; p < 0.03). Furthermore, the haplotype–based association of the ACE I/D and CYP11B2-344C/T polymorphisms showed that the D-T haplotype increased the risk for AF. Conclusion: Our study suggests a significant association of the ACE (I/D) and CYP11B2-344C/T polymorphisms with AF in the Tunisian population.
Rett syndrome, a rare disorder caused by MECP2 mutation, causes severe developmental impairment in afflicted girls. We performed two literature reviews in June 2018 to assess Rett syndrome clinical trials (MEDLINE/Embase/ClinicalTrials.gov/Cochrane Library) and the economic burden of care (Medline/Embase/Cochrane Library/Database of Abstracts of Reviews and Effects). The economic burden search yielded 133 articles; intervention type/costs were extracted from 9, representing 4 studies. Enteral feeding/assisted walking increased the risk of respiratory-related hospital admissions, while length-of-stay was lower in younger patients. Mean recovery-stay after scoliosis-correcting surgery was 18.2/12.3 days in each of two studies. Care integration improved outcomes and reduced costs. The clinical trials search yielded 652 articles; efficacy/safety were extracted from 28, representing 20 studies (15 randomized controlled trials, 5 single-arm; N=8–82; follow-up 1–26 months). Nineteen focused on pharmacological symptom treatment; 1 examined environmental enrichment effects; most common primary endpoints: Rett syndrome Gross Motor Scale, Clinical Severity Score, Motor and Behavioral Assessment, and the Anxiety Depression and Mood Scale. Naltrexone, trofinetide, and mecasermin demonstrated clinical benefits, but most treat- ments yielded no significant improvement. Clinical practice guidelines and treatment patterns data were limited. There is demand for treatments targeting the underlying cause, such as gene therapy. Previously presented after 08/2019.jloukes879@avexis.com158
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