Effect of a yoghurt drink containing Lactobacillus strains on bacterial vaginosis in women – a double-blind, randomised, controlled clinical pilot trial

2018 ◽  
Vol 9 (1) ◽  
pp. 35-50 ◽  
Author(s):  
C. Laue ◽  
E. Papazova ◽  
A. Liesegang ◽  
A. Pannenbeckers ◽  
P. Arendarski ◽  
...  
Keyword(s):  
Bacterial Vaginosis ◽  
Pilot Trial ◽  
Group Versus ◽  
Lactobacillus Delbrueckii ◽  
Control Group ◽  
Fisher Exact Test ◽  
Intervention Period ◽  
Double Blind ◽  
Increased Risk ◽  
Amsel Criteria

Bacterial vaginosis (BV) is characterised by a depletion of lactobacilli in favour of an overgrowth of anaerobic bacteria. It is associated with increased risk for urogenital infections and abortion. In this study we assessed the effect of a yoghurt drink containing Lactobacillus strains on BV. The strains had been isolated from healthy pregnant women and selected for acidification capacity, production of H2O2, glycogen utilisation, bile salt tolerance and inhibition of pathogens. Using Amsel criteria BV was diagnosed in 36 women aged ≥18 years with stable menstrual cycle or menopause. They were treated with oral metronidazole for 7 days (2×500 mg/d). Starting with the treatment, women consumed twice daily either verum or placebo during 4 weeks. Verum was 125 g yoghurt containing (besides Lactobacillus delbrueckii ssp. bulgaricus and Streptococcus thermophilus) living strains Lactobacillus crispatus LbV 88 (DSM 22566), Lactobacillus gasseri LbV 150N (DSM 22583), Lactobacillus jensenii LbV 116 (DSM 22567) and Lactobacillus rhamnosus LbV96 (DSM 22560), each 1×107 cfu/ml; placebo was 125 g chemically acidified milk. After 4 weeks of intervention 0 of 17 had BV in the verum group versus 6 of 17 in the s.a. control (0.018 in Fisher Exact test). Amsel score decreased during the intervention period by 4.0 (median) (4.0; 3.0) (25th; 75th percentile) in the verum group compared to 2.0 (4.0; 0.0) in the control group (P=0.038 in Mann-Whitney test). Discharge and odour (Amsel criteria 2+3) also decreased by 2.0 (2.0; 1.0) in the verum compared to 1.0 (2.0; 0.0) in the control group (P=0.01) and differed after 4 weeks intervention between the groups 0.0 (0.0; 0.0) versus 1.0 (0.0; 2.0) (P=0.001). Nugent score decreased during the intervention period by 5.5 (7.0;2.3) in the verum compared to 3.0 (6.0;0.5) in the control group (P=0.158). Additional intake of yoghurt containing these probiotic strains improved the recovery rate and symptoms of BV and tended to improve the vaginal microbial pattern.

Toxicity in a double-blind, placebo-controlled pilot trial with D-penicillamine and metacycline in secondary progressive multiple sclerosis

1998 ◽  
Vol 4 (2) ◽  
pp. 74-78 ◽  
Author(s):  
B Dubois ◽  
M B D'Hooghe ◽  
K De Lepeleire ◽  
P Ketelaer ◽  
G Opdenakker ◽  
...  
Keyword(s):  
Multiple Sclerosis ◽  
Pilot Trial ◽  
Progressive Multiple Sclerosis ◽  
Secondary Progressive Multiple Sclerosis ◽  
Tissue Type ◽  
Control Group ◽  
Double Blind ◽  
Gelatinase B ◽  
Double Blind Placebo ◽  
Secondary Progressive

The serine proteinase tissue-type plasminogen activator (t-PA) and the metalloproteinase gelatinase B (MMP-9) have recently been demonstrated in MS lesions. Both enzymes are interconnected in an enzyme cascade which contributes to destruction of the blood brain barrier and demyelination and both enzymes are inhibited by D-penicillamine. Metacycline was shown in in vitro experiments to inhibit gelatinase B. The combination of peroral D-penicillamine plus metacycline was evaluated in a double-blind placebo-controlled way in two groups of 10 patients suffering from secondary progressive multiple sclerosis. The major objectives of this pilot trial were to examine the safety of this combination and the possibility of blinding, while the effect on disease progression was considered as a secondary endpoint. Over a follow-up period of 1 year and in this selected patient group, there was no significant improvement in the Expanded Disability Status Scale score (EDSS) as compared with that of the placebo-control group. Toxicity was too high to consider additional trials with this combination of metalloproteinase inhibitors. Although peroral treatment is by most MS patients acknowledged as a major improvement in treatment compliance, one has to await the development of more selective and efficaceous protease inhibitors than those used in the combination therapy described here.

Relationship between Genetic Polymorphism of CYP1A1 at Codon 462 (Ile462Val) in Colorectal Cancer

2008 ◽  
Vol 23 (1) ◽  
pp. 18-23 ◽  
Author(s):  
P.V. Pereira Serafim ◽  
I.D. Cotrim Guerreiro da Silva ◽  
N. Manoukian Forones
Keyword(s):  
Colorectal Cancer ◽  
Group Versus ◽  
Positive Association ◽  
Control Group ◽  
Case Group ◽  
Wild Type ◽  
Cancer Group ◽  
Increased Risk ◽  
Colorectal Cancer Patients ◽  
Alcohol Users

Aims and background The enzyme cytochrome P450 plays an important role in the metabolization and detoxification of various compounds. CYP1A1 is a polymorphic enzyme and some of its alleles have been correlated with an increased risk of developing various types of cancer. The aim of this study was to investigate the incidence of the polymorphism A→G (Ile462Val, exon 7) in colorectal cancer patients and the correlation of this polymorphism with others risk factors. Patients and methods 114 Brazilian patients with colorectal cancer were matched by age and sex to 114 healthy individuals. DNA was extracted from peripheral blood and the genotypes of the polymorphisms were assessed by PCR-restriction fragment length polymorphism. Results In the case group 64 subjects were male, 53 were alcohol users and 68 were smokers. In the control group 61 were male, 67 were alcohol users and 53 smokers. There were 14 subjects with wild-type homozygous A/A, 97 with heterozygous A/G, and 3 with homozygous mutated G/G in the cancer group versus 81 subjects with wild-type homozygous A/A and 33 with heterozygous A/G in the control group. The presence of the G allele (OR 5.14, 95%CI 3.15–10.80) was associated with an increased risk of colorectal cancer (p=0.001). The prevalence of smokers was higher in the cancer group (p=0.047, OR 1.71, 95%CI 1.03–3.11). Conclusion These results suggest a positive association between the A→G polymorphism and the risk of colorectal cancer. In addition, smoking was also a colorectal cancer risk. We did not find any correlation between this polymorphism and sex, grade of differentiation, stage, or evolution of the disease.

P328Is there evidence of a rebound increase in platelet aggregation following withdrawal of Aspirin or Ticagrelor in patients who have previously undergone PCI and coronary stenting?

2019 ◽  
Vol 40 (Supplement_1) ◽  
Author(s):  
B W Hennigan ◽  
R Good ◽  
C Adamson ◽  
L Martin ◽  
L Anderson ◽  
...  
Keyword(s):  
Platelet Aggregation ◽  
Rebound Effect ◽  
Group Versus ◽  
Coronary Stenting ◽  
Control Group ◽  
Monotherapy Group ◽  
Coronary Syndrome ◽  
Increased Risk ◽  
Rebound Increase ◽  
Induced Aggregation

Abstract Introduction In patients treated with coronary stents previous studies have demonstrated an increased risk of acute coronary syndrome in after discontinuation of clopidogrel. In this study, we recruited patients already randomised in the GLOBAL LEADERS study allocated to discontinue aspirin treatment, while remaining on ticagrelor, 1 month after coronary stenting (Ticag MonoRx group) and a control group discontinuing ticagrelor at 6–12 months while remaining on aspirin (ASA MonoRx group). Both groups underwent platelet studies at day 0, prior to discontinuation of aspirin or ticagrelor and then on day 2, 7 and 14 day post cessation with multiple electrode aggregometry. Purpose This study was designed to look for evidence of a rebound increase in platelet aggregation in response to collagen after withdrawal of either aspirin or ticagrelor in patients who have been treated with both drugs after PCI with DES implantation. We needed a sample size of 26 patients in each group for 90% power to detect a mean change in platelet aggregation of 100 AU/min with an alpha of 0.05. The primary outcome measure was change in platelet aggregation in response to collagen between baseline and day 2, day 7 and day 14 following cessation of DAPT. A rebound effect was defined as a >10% increase in collagen induced platelet aggregation on either day 2 or day 7 compared to day 14 post discontinuation of either aspirin or ticagrelor. Methods Patients provided written informed consent and underwent MEA using arachidonic acid (AA), adenosine diphosphate (ADP), thrombin receptor activator peptide (TRAP) and collagen in prespecified concentrations timed at 30 mins post phlebotomy. Results were calculated from the area under the curve and expressed as as whole number aggregation units (AU). Inbuilt QC analysis was used to determine the need for repeat assays. Results Collagen induced platelet aggregation was similar in both groups at day 0 (37 AU vs 34 AU; p=0.687) and at day 2 (55 AU vs 40 AU; p=0.12). By day 7, patients on ticagrelor monotherapy had higher collagen induced platelet aggregation (78 AU vs 37 AU; p=0.0001) and this difference was maintained at 14 days (80 AU vs 43 AU; p=0.0001). In patients, assigned to ticagrelor monotherapy after 1 month of DAPT, AA induced platelet aggregation progressively increased from day 0 to day 14. In the patients discontinuing ticagrelor and continuing on aspirin monotherapy, ADP induced platelet aggregation increased from day 0 to day 14. Rebound was seen in 6/17 (35%) patients in the ticagrelor monotherapy group versus 8/17 (47%) patients in the aspirin monotherapy group (p=0.728) with a mean peak of 21 AU (SD 6) and 10 AU (SD 6) respectively above baseline readings, p=0.003. There was no difference in TRAP induced aggregation at any time point. Figure 1 Conclusions Ticagrelor monotherapy was associated with higher collagen induced platelet aggregation than aspirin monotherapy at both 7 and 14 days post cessation of DAPT. Acknowledgement/Funding British Heart Foundation Project Grant PG/14/97/31263, AstraZeneca UK Limited

scholarly journals Role of probiotics in lower reproductive tract infection in women of age group 18 to 45 years

2017 ◽  
Vol 6 (2) ◽  
pp. 671
Author(s):  
Rukshana Shamshu ◽  
Jayasree Vaman ◽  
Nirmala C.
Keyword(s):  
Bacterial Vaginosis ◽  
Lactobacillus Reuteri ◽  
Lactobacillus Rhamnosus ◽  
Vulvovaginal Candidiasis ◽  
Controlled Study ◽  
Control Group ◽  
P Value ◽  
Double Blind ◽  
Reproductive Tract Infection ◽  
Conventional Antibiotics

Background: This study has been designed to assess the effectiveness of the probiotic strains having Lactobacillus rhamnosus GR-1 and Lactobacillus reuteri RC-14 in the management of lower genital infections (bacterial vaginosis and candidiasis) as an integral therapy with antibiotics.Methods: Double blind, randomized placebo controlled study in women between 18-45 years attending Sree Avittom Thirunal Hospital (SATH), Government Medical College, Thiruvananthapuram, India with symptoms of bacterial vaginosis and vulvovaginal candidiasis. Women giving consent were given probiotics along with conventional antibiotics and were followed up over a period of two months. Outcome is measured as percentage of women showing a score of less than 4 at the end of thirty days of treatment, and sixty days of treatment in the test and control group in the case of bacterial vaginosis and no discharge and absence of hyphae and pseudohyphae in wet smear and gram stain in case of candidiasis.Results: Out of 42 women studied, 32 had bacterial vaginosis and 10 had vulvovaginal candidiasis. 81.3% women with BV had a normal vaginal picture after sixty days of treatment as compared to placebo which was only 31.3%. The p value is 0.004 which is significant. In the treatment of VC, the percentage of women cured was the same in both probiotic and placebo group.Conclusions: In the treatment of bacterial vaginosis, addition of probiotics to the conventional antibiotics can improve the cure rate of bacterial vaginosis and reduce the rate of recurrences. In the treatment of vulvovaginal candidiasis, addition of probiotics to the conventional antifungal did not have a significant improvement.

scholarly journals Association between Chronic Acetaminophen Exposure and Allergic Rhinitis in a Rat Model

2015 ◽  
Vol 6 (3) ◽  
pp. ar.2015.6.0131 ◽  
Author(s):  
Nadieska Caballero ◽  
Kevin C. Welch ◽  
Patrick S. Carpenter ◽  
Swati Mehrotra ◽  
Tom F. O'Connell ◽  
...  
Keyword(s):  
Allergic Rhinitis ◽  
Mast Cells ◽  
Rat Model ◽  
Group Versus ◽  
Inferior Turbinate ◽  
Control Group ◽  
Sprague Dawley ◽  
Sprague Dawley Rats ◽  
Increased Risk ◽  
Hematoxylin And Eosin

Background Several population studies demonstrated an increased risk of allergic rhinitis in patients exposed to acetaminophen. However, no histologic studies have been conducted to assess the relationship between acetaminophen exposure and allergic rhinitis. Objective In this study, we investigated the association between chronic acetaminophen exposure and the development of allergic rhinitis in a rat model. Methods Ten female Sprague-Dawley rats were randomly assigned to either a control (n = 5) or an acetaminophen group (n = 5). The acetaminophen group received 200 mg/kg/day of acetaminophen suspended in yogurt via oral gavage for 120 days. The control group received only the yogurt vehicle. Allergic behavioral responses, including nose rub, eye rub, ear scratching, and neck and/or face scratching, were quantified. The rats were killed, and the noses were harvested. The portion of the nose, including the nasal septum and the inferior turbinates, was embedded in paraffin, sectioned, and stained with hematoxylin and eosin to quantify the inflammatory infiltrate. Results The average number of allergic responses per animal was 13.2 in the acetaminophen group versus 6.2 in the control group (p = 0.032). All the rats in the acetaminophen group (100%) had mast cells infiltrating the lamina propria of the inferior turbinate, whereas mast cells were detected in only 40% of the animals in the control group. The average number of mast cells per animal in the acetaminophen group was 134 versus 21 in the control group (p = 0.048). Conclusions Our study was the first to demonstrate a histologic association between chronic exposure to acetaminophen and rhinitis. Further research to elucidate the mechanism that underlies these findings is necessary.

Intramuscular versus ultrasound-guided intratenosynovial glucocorticoid injection for tenosynovitis in patients with rheumatoid arthritis: a randomised, double-blind, controlled study

2016 ◽  
Vol 76 (4) ◽  
pp. 666-672 ◽  
Author(s):  
Mads Ammitzbøll-Danielsen ◽  
Mikkel Østergaard ◽  
Viktoria Fana ◽  
Daniel Glinatsi ◽  
Uffe Møller Døhn ◽  
...  
Keyword(s):  
Rheumatoid Arthritis ◽  
Isotonic Saline ◽  
Group Versus ◽  
Controlled Study ◽  
Fisher Exact Test ◽  
Double Blind ◽  
Exact Test ◽  
Patient Reported ◽  
Registration Number

ObjectiveThe aim of this study was to compare the efficacy of intramuscular versus ultrasound (US)-guided intratenosynovial glucocorticoid injection in providing disease control after 2, 4 and 12 weeks in patients with rheumatoid arthritis(RA) with tenosynovitis.MethodsFifty patients with RA and tenosynovitis were randomised into two double-blind groups: (A) ‘intramuscular group’, receiving intramuscular injection of betamethasone and US-guided intratenosynovial isotonic saline injection and (B) ‘intratenosynovial group’ receiving saline intramuscularly and US-guided intratenosynovial betamethasone injection. All patients were in stable disease-modifying anti-rheumatic drug treatment prior to and during the study. Patients were excluded, and considered non-responders, if any treatments were altered during the follow-up period. ‘US tenosynovitis remission’, defined as US tenosynovitis grey-scale score ≤1 and colour Doppler score=0, was assessed at week 4 (primary outcome), and weeks 2 and 12, using non-responder imputation for missing data.ResultsUS tenosynovitis remission at week 4 was achieved in 25% (6/24) in the ‘intramuscular group’ versus 64% (16/25) in the ‘intratenosynovial group’, that is, a difference of −39 percentage point (pp) (CI −65pp to −13pp), Fisher exact test p=0.001. Corresponding values for the ‘intramuscular group’ versus the ‘intratenosynovial group’ at 2 and 12 weeks were 21% (5/24) versus 48% (13/25), that is, a difference of −27pp (CI −53pp to −2pp), p=0.072 and 8% (2/24) versus 44% (11/25), that is, difference of −36pp (−58pp to −13pp), p=0.003. Most US, clinical and patient-reported scores improved more in the ‘intratenosynovial group’ at all follow-up visits.ConclusionsIn this randomised double-blind clinical trial, patients with RA and tenosynovitis responded significantly better to US-guided intratenosynovial glucocorticoid injection than to intramuscular glucocorticoid injection, both at 4 and 12 weeks follow-up.Trial registration numberEudraCT nr: 2013-003486-34.

scholarly journals Polymorphisms in Phase I (CYP450) Genes CYP1A1 (rs4646421), CYP1B1 (rs1056836), CYP19A1 (rs749292) and CYP2C8 (rs1058930) and Their Relation to Risk of Breast Cancer: A Case-Control Study in Mazandaran Province in North of Iran

2019 ◽  
Vol 7 (15) ◽  
pp. 2488-2496 ◽  
Author(s):  
Golpar Golmohammadzadeh ◽  
Abbas Mohammadpour ◽  
Nematollah Ahangar ◽  
Mohammad Shokrzadeh
Keyword(s):  
Breast Cancer ◽  
Case Control Study ◽  
Control Group ◽  
Fisher Exact Test ◽  
Mazandaran Province ◽  
Chi Square ◽  
Exact Test ◽  
Cyp1b1 Gene ◽  
Increased Risk ◽  
Control Study

BACKGROUND: The second leading cause of cancer-related death in women is breast cancer. Xenobiotic Metabolizing Enzymes (XMEs) contribute to the detoxification of numerous cancer therapy-induced products. In the metabolism of xenobiotic, cytochrome P450s or monooxygenases perform an important function by catalysing the hydroxylation reaction. In this study, the susceptibility and genetic polymorphisms of CYP450 isoenzymes was investigated that may have an etiological role in breast cancer. AIM: The main purpose of this study was to evaluate the association of CYP1A1 (rs4646421), CYP1B1 (rs1056836), CYP2C8 (rs1058930), and CYP19A1 (rs749292) polymorphisms with the risk of breast cancer in Mazandaran province. MATERIAL AND METHODS: This cross-sectional case-control study were recruited 72 patients and 51 healthy individuals and was performed between March 2018 to May 2018 in the Oncology Department at Imam Hospital in Sari city, Iran. Peripheral blood samples were collected in EDTA tube, and DNA extraction was performed using the salting-out method and WizPrep extraction kits. Breast cancer patients with known clinicopathological characters and healthy women as control group were genotyped for genes polymorphisms by PCR-RFLP technique, using restriction enzymes. Chi-square, Fisher exact test and Logistic regression model, were applied for statistical analysis. RESULTS: The results of the experiments showed that there was a significant relationship between two groups and the age of the patients is significantly higher than the control group (p = 0.044). According to the chi-square and Fisher exact test, education, pregnancy, menopause status and oppose were significant between the two groups. Based on using a logistic regression model in two normalized and age-adjusted models to finding relationship between the genotypes of each gene and breast cancer risk, it was determined that in the CYP2C8 genotype, those who have the CG allele have a 7.74 degree increased risk of breast cancer (CI = 95% 0.95-62.5) and in the CYP19A1 gene, individuals with GA genotype, increased risk of breast cancer (CI = %95 1.52-27.21), about the CYP1B1 gene, people with two genotypes of CG + GG had higher risk of breast cancer (CI = %95 1.19-5.71) and allele G has decreased risk of breast cancer in this gene (P = 0.0271), also allele G in CYP2C8 gene had the protective effect (P = 0.02). In the age-adjusted model, for the CYP2C8 gene, GG genotype increased risk of breast cancer (CI = %95 1.11-75.84) as well as, the CG + GG genotype in CYP1B1 gene (CI = %95 1.31-6.57). CONCLUSION: Our results confirm the association between CYP2C8 (rs1058930), CYP19A1 (rs749292) and CYP1B1 (rs1056836) gene polymorphisms and increased risk of breast cancer in women in Mazandaran province.

Quercetin supplementation in non-alcoholic fatty liver disease

2020 ◽  
Vol 50 (6) ◽  
pp. 1279-1293
Author(s):  
Mahboobe Hosseinikia ◽  
Farhad Oubari ◽  
Roghaye Hosseinkia ◽  
Zibaneh Tabeshfar ◽  
Mohammad Gharib Salehi ◽  
...  
Keyword(s):  
Liver Disease ◽  
Fatty Liver ◽  
Fatty Liver Disease ◽  
Liver Enzymes ◽  
Group Versus ◽  
Control Group ◽  
Double Blind ◽  
Alcoholic Fatty Liver ◽  
Content Type ◽  
Alcoholic Fatty Liver Disease

Purpose Non-alcoholic fatty liver disease (NAFLD) is the most common liver disease which has become a public health concern, whose growing prevalence has been reported as around 33.9% in Iran. As oxidative stress plays a crucial role in the pathogenesis of NAFLD, antioxidant compounds such as quercetin could ameliorate the side effect of oxidative stress. The aim of the current study was to assess the effect of quercetin on lipid profile, liver enzymes and inflammatory indices in NAFLD patients. Design/methodology/approach In a randomized, double-blind, placebo-controlled trial conducted as a pilot study, 90 patients with NAFLD were supplemented with either a quercetin or a placebo capsule twice daily (500 mg) for 12 weeks. Both groups were advised to follow an energy-balanced diet with physical activity recommendations. Blood sample was obtained for laboratory parameters at baseline and the end of week 12. Findings At the end of the follow-up, quercetin group had significantly greater reduction in anthropometric parameters, cholesterol (−15 ± (−41, 0.00) in Q group versus −1± (−8, 2) in control group, p = 0.004), TG (−56.7 ± 22.7) in Q group versus −13.4 ± 27.7 in control group, p = 0.04), and tumor necrosis factor-α (TNF-α) (−49.5 ± (−99, 21) in Q group versus −5 ± (−21, 0.30) in the control group, p < 0.0001) compared to the control group. However, changes in fatty liver grade, liver enzymes, as well as high density lipoprotein-cholesterol and high-sensitivity C-reactive protein were not significantly different between the two groups. Originality/value To the best of the authors’ knowledge, this was the first study which assessed the effect of quercetin supplementation on liver enzymes, lipid profile and inflammatory indices of NAFLD patients as a double-blind placebo-controlled pilot study.

scholarly journals Adjuvant Effect of Orally Applied Preparations Containing Non-Digestible Polysaccharides on Influenza Vaccination in Healthy Seniors: A Double-Blind, Randomised, Controlled Pilot Trial

Nutrients ◽  
2021 ◽  
Vol 13 (8) ◽  
pp. 2683
Author(s):  
Christiane Laue ◽  
Yala Stevens ◽  
Monique van Erp ◽  
Ekaterina Papazova ◽  
Edlyn Soeth ◽  
...  
Keyword(s):  
Immune Response ◽  
Influenza A ◽  
Pilot Trial ◽  
Haemagglutination Inhibition ◽  
Fisher Exact Test ◽  
Adjuvant Effect ◽  
Seroprotection Rate ◽  
Double Blind ◽  
Influenza A H1n1 ◽  
Randomised Controlled

Senior individuals can suffer from immunosenescence and novel strategies to bolster the immune response could contribute to healthy ageing. In this double-blind, randomised, controlled pilot trial, we investigated the ability of non-digestible polysaccharide (NPS) preparations to enhance the immune response in a human vaccination model. In total, 239 subjects (aged 50–79 years) were randomised to consume one of five different NPS (yeast β-glucan (YBG), shiitake β-glucan (SBG), oat β-glucan (OBG), arabinoxylan (AX), bacterial exopolysaccharide (EPS)) or control (CTRL) product daily for five weeks. After two weeks of intervention, subjects were vaccinated with seasonal influenza vaccine. The post-vaccination increases in haemagglutination inhibition antibody titres and seroprotection rate against the influenza strains were non-significantly enhanced in the NPS intervention groups compared to CTRL. Specifically, a trend towards a higher mean log2 fold increase was observed in the AX group (uncorrected p = 0.074) combined with a trend for an increased seroprotection rate, AX group (48.7%) compared to CTRL (25.6%) (uncorrected p = 0.057), for the influenza A H1N1 strain. Subjects consuming AX also had a reduced incidence of common colds compared to CTRL (1 vs. 8; p = 0.029 in Fisher exact test). No adverse effects of NPS consumption were reported. The findings of this pilot study warrant further research to study AX as an oral adjuvant to support vaccine efficacy.

Abstract 15754: The Prevalence of Electronic Health Record-Based Clinical Phenotypes in Patients With Pathogenetic Variants Associated With Arrhythmogenic Right Ventricular Cardiomyopathy

Circulation ◽  
2015 ◽  
Vol 132 (suppl_3) ◽  
Author(s):  
Christopher M Haggerty ◽  
Sarah A Pendergrass ◽  
Marci Barr ◽  
Joseph B Leader ◽  
Dustin N Hartzel ◽  
...  
Keyword(s):  
Right Ventricular ◽  
Arrhythmogenic Right Ventricular Cardiomyopathy ◽  
Group Versus ◽  
Primary Treatment ◽  
Control Group ◽  
Implantable Cardioverter Defibrillators ◽  
Ventricular Cardiomyopathy ◽  
Pathogenic Variants ◽  
Increased Risk ◽  
Electronic Health

Objective Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a rare myocardial disorder. Genetic etiology is ascribed to variants in 8 genes ( PKP2 , DSP , DSC2 , DSG2 , JUP , TMEM43 , TGFβ2 , RYR2 ). We aimed to establish the prevalence and clinical phenotype of individuals with pathogenic variants (PV) in these genes from an unselected cohort. Methods Whole-exome sequences for 31,036 patients in the MyCode™ Biorepository were evaluated for pathogenic or likely pathogenic (P/LP) ARVC variants reported in ClinVar or the ARVC database. Composite ICD-9 data from the electronic health records of PV individuals vs a non-PV control group were analyzed. Results 57 P/LP variants were identified in 240 individuals (0.77%), aged 61 ± 19 years. Characteristics of this PV group versus a non-PV control group are summarized in the table. Zero patients in the PV group had a documented diagnosis of ARVC. Use of implantable cardioverter defibrillators—the primary treatment for ARVC—was rare. Of individuals ≥55 years, 24% with PV had no history of cardiac disease (vs. 22% for non-PV). However, there was a modest increase in the prevalence of cardiac electrical abnormalities (e.g., tachycardia, fibrillation) in PV vs. non-PV. There was also a trend towards increased diagnoses of 'other primary cardiomyopathy'. Conclusions The prevalence of reported pathogenic ARVC variants (0.77%) greatly exceeds the disease prevalence (0.02 - 0.10%). In this cohort of 240 genotype-positive subjects, there was little evidence of overt ARVC disease, suggesting that the positive-predictive value for classic ARVC in individuals with an incidental positive genetic finding is low. The increased risk of certain clinical findings, not specific to ARVC, supports the notion that the spectrum of phenotypes associated with pathogenic variants in these genes is broader than classically described. Targeted “deep phenotyping” is needed to assess subclinical phenotypes in genomically screened populations.

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