scholarly journals A novel PS4 criterion approach based on symptoms of rare diseases and in-house frequency data in a Bayesian framework

2020 ◽  
Author(s):  
You Kyung Cho ◽  
Dhong-gun Won ◽  
Changwon Keum ◽  
Beom Hee Lee ◽  
Go Hun Seo ◽  
...  
Keyword(s):  
Rare Diseases ◽  
Odds Ratio ◽  
Case Control Study ◽  
Rare Variants ◽  
Bayesian Framework ◽  
The Novel ◽  
Significant Difference ◽  
Novel Method ◽  
Control Study ◽  
Criterion Approach

AbstractThe American College of Medical Genetics (ACMG) and Genomics/Association for Molecular Pathology (AMP) previously reported standardized guidance for the assessment of genetic variants. One of the criteria regarding the prevalence in a case-control study, PS4, is important due to its evidence of pathogenicity. Despite recent studies approaching gene- and disease-specific probands, interpretation of a variant to PS4 still has certain limitations for rare variants. Here, we suggest a generalized method, Bayesian odds ratio (BayesianOR), applicable to PS4 via decomposing a disease to its symptoms and applying a Bayesian framework. Using this approach, we demonstrate reproducibility of the calculation of the original odds ratio from well-studied epilepsy data and verify the applicability to in-house frequencies for various rare diseases. In addition, BayesianOR showed a significant difference in tendency with different ClinVar pathogenicity, using in-house data. Thus, the novel method described here should provide an improved interpretation of sequence variants. Furthermore, we anticipate that it will enhance the diagnosis of patients with rare diseases.

Sensor-Operated Faucets: A Possible Source of Nosocomial Infection?

2002 ◽  
Vol 23 (1) ◽  
pp. 44-46 ◽  
Author(s):  
Ojan Assadian ◽  
Nadja El-Madani ◽  
Edith Seper ◽  
Stefan Mustafa ◽  
Christoph Aspöck ◽  
...  
Keyword(s):  
Pseudomonas Aeruginosa ◽  
Confidence Interval ◽  
Nosocomial Infection ◽  
Odds Ratio ◽  
Case Control Study ◽  
Case Control ◽  
Odds Ratios ◽  
Significant Difference ◽  
Control Study

AbstractRecently, contamination of sensor-operated faucets (SOFs) withPseudomonas aeruginosawas observed. To evaluate odds ratios, we conducted a case–control study in which handle-operated faucets served as controls. No statistically significant difference inP. aeruginosacounts was observed between SOFs and regular faucets in our study (odds ratio, 0.0; 95% confidence interval, 0.0 to 39.0; two-sidedPexact = .99).

scholarly journals Low-frequency and rare coding variants of NUS1 contribute to pathogenesis and phenotype of Parkinson’s disease: a case-control study

2020 ◽  
Author(s):  
Li Jiang ◽  
Jun-pu Mei ◽  
Yu-wen Zhao ◽  
Rui Zhang ◽  
Hong-xu Pan ◽  
...  
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Odds Ratio ◽  
Case Control Study ◽  
Rare Variants ◽  
Late Onset ◽  
Age At Onset ◽  
Low Frequency ◽  
Case Control ◽  
Control Study

Abstract Background NUS1 has recently been identified as a candidate risk gene for Parkinson’s disease (PD), but the contribution of NUS1 rare and low-frequency variants to PD susceptibility and phenotypes is largely unknown. Methods In our case-control study, whole-exome or Sanger sequencing was performed on the subjects (4,779 cases vs. 4,442 controls) to analyze the coding sequence of NUS1 . The associations between variants and phenotypic data were analyzed using sequence kernel association test and regression models. Results A total of 13 variants were identified. Ten of them in 12 patients and one control were rare variants and three were low-frequency variants. Three rare variants (R86L, N144K, D163H) might be pathogenic. We identified a significant burden of rare NUS1 variants in PD (adjusted P=0.016). Two low-frequency variants, rs550854234 and rs539668656, were associated with PD (odds ratio = 0.76, adjusted P = 0.041; odds ratio = 2.80, adjusted P = 0.016; respectively). Analyses stratified by age at onset showed that the same two variants were associated with late-onset PD (odds ratio = 0.66, adjusted P = 0.025; odds ratio = 2.96, adjusted P = 0.025; respectively). The genotype-phenotype associations of these variants showed that patients with PD carrying rare variants, rs550854234 or rs539668656 were significantly associated with earlier onset age, emotional impairment and tremor severity. Conclusions Our study suggests that rare and low-frequency NUS1 variants play an important role in the pathogenesis and phenotype of PD. Moreover, our data will help understand the role of NUS1 plays in the pathogenesis of PD and further the development of personalized treatments for PD.

Malignant Otitis Externa is Associated with Diabetes: A Population-Based Case-Control Study

2020 ◽  
Vol 129 (6) ◽  
pp. 585-590
Author(s):  
Tzong-Hann Yang ◽  
Sudha Xirasagar ◽  
Yen-Fu Cheng ◽  
Chuan-Song Wu ◽  
Yi-Wei Kao ◽  
...  
Keyword(s):  
Odds Ratio ◽  
Otitis Externa ◽  
Case Control Study ◽  
Population Based ◽  
Case Control ◽  
Research Database ◽  
Significant Difference ◽  
Malignant Otitis Externa ◽  
Diagnosed Diabetes ◽  
Control Study

Objective: Despite studies reporting a possible association between malignant otitis externa (MOE) and diabetes, there are no large-scale population-based empirical studies. This nationwide, population-based case-control study explored the association of MOE occurrence with previously diagnosed diabetes. Methods: Data were retrieved from Taiwan’s National Health Insurance Research Database, 753 patients with MOE (cases) and 2 259 propensity score-matched patients without MOE (controls). Multiple logistic regressions were conducted to examine the association of MOE with previously diagnosed diabetes. Results: In total, 728 (24.2%) out of 3 012 sample patients had diabetes prior to the index date. Chi-square test revealed a significant difference in diabetes prevalence among cases and controls (54.8% vs 13.9%, p < 0.001). Simple logistic regression showed the odds ratio for prior diabetes among cases versus controls was 7.50 (95% CI, 6.22~9.03). The adjusted odds ratio of prior diabetes for cases versus controls was 10.07 (95% CI, 8.15~12.44) after adjusting for patient demographics and medical co-morbidities. Conclusions: This study found an association between MOE and diabetes. One clinical practice implication of our study is that when a patient with diabetes complains of otalgia or otorrhea, and physical examination shows swelling of the ear canal or granulation growth, physicians should consider the possibility of MOE.

scholarly journals A case–control study in France showing that a pro-inflammatory diet is associated with a higher risk of breast cancer

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Mariem Hajji-Louati ◽  
Emilie Cordina-Duverger ◽  
Nasser Laouali ◽  
Francesca-Romana Mancini ◽  
Pascal Guénel
Keyword(s):  
Breast Cancer ◽  
Breast Cancer Risk ◽  
Cancer Risk ◽  
Odds Ratio ◽  
Hormone Receptors ◽  
Case Control Study ◽  
Breast Cancer Subtype ◽  
Case Control ◽  
Tumor Subtype ◽  
Control Study

AbstractDietary regimens promoting inflammatory conditions have been implicated in breast cancer development, but studies on the association between pro-inflammatory diet and breast cancer risk have reported inconsistent results. We investigated the association between the inflammatory potential of diet and breast cancer risk in a case–control study in France including 872 breast cancer cases and 966 population controls. All women completed a food frequency questionnaire that was used to compute a Dietary Inflammatory Index (DII) based on the inflammatory weight of 33 dietary components. The DII ranged from a median of − 3.22 in the lowest quartile (anti-inflammatory) to + 2.96 in the highest quartile (pro-inflammatory). The odds ratio contrasting quartile 4 to quartile 1 was 1.31 (95% CI 1.00, 1.73; p-trend = 0.02). Slightly higher odds ratios were observed in post-menopausal women, particularly those with body mass index > 25 kg/m2 (odds ratio 1.62; 95% CI 0.92, 2.83; p-trend = 0.02), and among ever smokers (odds ratio 1.71; 95% CI 1.11, 2.65; p-trend 0.01). The analyses by breast cancer subtype showed that the DII was associated with breast tumors that expressed either the estrogen (ER) or progesterone (PR) hormone receptors or the Human Epidermal Growth Factor Receptor-2 (HER2), but no association was seen for the triple negative breast tumor subtype. Our results add further evidence that a pro-inflammatory diet is associated with breast cancer risk with possible effect variation according to tumor subtype.

scholarly journals Plasma acylcarnitines and risk of lower-extremity functional impairment in older adults: a nested case–control study

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Francisco Félix Caballero ◽  
Ellen A. Struijk ◽  
Alberto Lana ◽  
Antonio Buño ◽  
Fernando Rodríguez-Artalejo ◽  
...  
Keyword(s):  
Older Adults ◽  
Confidence Interval ◽  
Lower Extremity ◽  
Functional Impairment ◽  
Odds Ratio ◽  
Case Control Study ◽  
Case Control ◽  
Community Dwelling ◽  
Control Study ◽  
Long Chain

AbstractElevated concentrations of acylcarnitines have been associated with higher risk of obesity, type 2 diabetes and cardiovascular disease. The aim of the present study was to assess the association between L-carnitine and acylcarnitine profiles, and 2-year risk of incident lower-extremity functional impairment (LEFI). This case–control study is nested in the Seniors-ENRICA cohort of community-dwelling older adults, which included 43 incident cases of LEFI and 86 age- and sex- matched controls. LEFI was assessed with the Short Physical Performance Battery. Plasma L-carnitine and 28 acylcarnitine species were measured. After adjusting for potential confounders, medium-chain acylcarnitines levels were associated with 2-year incidence of LEFI [odds ratio per 1-SD increase: 1.69; 95% confidence interval: 1.08, 2.64; p = 0.02]. Similar results were observed for long-chain acylcarnitines [odds ratio per 1-SD increase: 1.70; 95% confidence interval: 1.03, 2.80; p = 0.04]. Stratified analyses showed a stronger association between medium- and long-chain acylcarnitines and incidence of LEFI among those with body mass index and energy intake below the median value. In conclusion, higher plasma concentrations of medium- and long-chain acylcarnitines were associated with higher risk of LEFI. Given the role of these molecules on mitochondrial transport of fatty acids, our results suggest that bioenergetics dysbalance contributes to LEFI.

Risk factors associated with subacromial pain in young athletes: A case control study

2021 ◽  
pp. 1-9
Author(s):  
Zoran Z. Sarcevic ◽  
Andreja P. Tepavcevic
Keyword(s):  
Logistic Regression ◽  
Case Control Study ◽  
Case Control ◽  
Sternoclavicular Joint ◽  
Pectoralis Major ◽  
Young Athletes ◽  
Serratus Anterior ◽  
Significant Difference ◽  
Lower Trapezius ◽  
Control Study

BACKGROUND: Subacromial pain (SAP) is a common complaint of young athletes, independently of the sport engaged. The prevalence of SAP in some sports is up to 50%. OBJECTIVE: The study was aimed to investigate some new factors possibly associated to subacromial pain in young athletes. The factors considered were the grade of tightness of the clavicular portion of the pectoralis major, dysfunction of the sternoclavicular joint, and serratus anterior and lower trapezius strength. METHODS: This case-control study included 82 young athletes 9–15 years, 41 with the symptoms of SAP and 41 controls. All participants self-reported whether they had subacromial pain. In addition, Hawkins–Kennedy Test was performed to all the participants to evaluate the subacromial pressure. Main outcome measures were the grade of tightness of the clavicular portion of the pectoralis major, dysfunction of the sternoclavicular joint, and serratus anterior and lower trapezius strength. The grade of tightness of the clavicular portion of the pectoralis major and the dysfunction of the sternoclavicular joint were measured with an inclinometer. Serratus anterior and lower trapezius strength were measured by a handheld dynamometer with external belt-fixation. The data were analyzed using t-test for independent samples, Mann-Whitney U test, contingency coefficients and a stepwise binary logistic regression. RESULTS: Significant statistical difference was observed in the grade of tightness of the clavicular portion of the pectoralis major and in the variable representing the physiological functioning of the sternoclavicular joint, between the cases and the controls. There was no significant difference in serratus anterior and lower trapezius strength between the cases and the controls. Logistic regression analysis showed that the variable representing the physiological functioning of the sternoclavicular joint and the grade of shortening of the clavicular portion of the pectoralis major were good predictors for presence of SAP. CONCLUSIONS: A strong association was determined between subacromial pain in young athletes, clavicular portion of pectoralis major tightness and the dysfunction of the sternoclavicular joint.

scholarly journals Parental risk factors for congenital diaphragmatic hernia – a large German case-control study

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Felicitas Schulz ◽  
Ekkehart Jenetzky ◽  
Nadine Zwink ◽  
Charlotte Bendixen ◽  
Florian Kipfmueller ◽  
...  
Keyword(s):  
Risk Factors ◽  
Confidence Interval ◽  
Environmental Risk ◽  
Odds Ratio ◽  
Alcohol Intake ◽  
Case Control Study ◽  
Case Control ◽  
Parental Risk Factors ◽  
Healthy Control ◽  
Control Study

Abstract Background Evidence for periconceptional or prenatal environmental risk factors for the development of congenital diaphragmatic hernia (CDH) is still scarce. Here, in a case-control study we investigated potential environmental risk factors in 199 CDH patients compared to 597 healthy control newborns. Methods The following data was collected: time of conception and birth, maternal BMI, parental risk factors such as smoking, alcohol or drug intake, use of hairspray, contact to animals and parental chronic diseases. CDH patients were born between 2001 and 2019, all healthy control newborns were born in 2011. Patients and control newborns were matched in the ratio of three to one. Results Presence of CDH was significantly associated with maternal periconceptional alcohol intake (odds ratio = 1.639, 95% confidence interval 1.101–2.440, p = 0.015) and maternal periconceptional use of hairspray (odds ratio = 2.072, 95% confidence interval 1.330–3.229, p = 0.001). Conclusion Our study suggests an association between CDH and periconceptional maternal alcohol intake and periconceptional maternal use of hairspray. Besides the identification of novel and confirmation of previously described parental risk factors, our study underlines the multifactorial background of isolated CDH.

scholarly journals Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes

2021 ◽  
Vol 12 (1) ◽  
Author(s):  
Julia K. Goodrich ◽  
Moriel Singer-Berk ◽  
Rachel Son ◽  
Abigail Sveden ◽  
Jordan Wood ◽  
...  
Keyword(s):  
Case Control Study ◽  
Rare Variants ◽  
Standard Of Care ◽  
Polygenic Scores ◽  
Monogenic Diseases ◽  
Metabolic Conditions ◽  
The Uk ◽  
Control Study ◽  
Polygenic Variation

AbstractHundreds of thousands of genetic variants have been reported to cause severe monogenic diseases, but the probability that a variant carrier develops the disease (termed penetrance) is unknown for virtually all of them. Additionally, the clinical utility of common polygenetic variation remains uncertain. Using exome sequencing from 77,184 adult individuals (38,618 multi-ancestral individuals from a type 2 diabetes case-control study and 38,566 participants from the UK Biobank, for whom genotype array data were also available), we apply clinical standard-of-care gene variant curation for eight monogenic metabolic conditions. Rare variants causing monogenic diabetes and dyslipidemias display effect sizes significantly larger than the top 1% of the corresponding polygenic scores. Nevertheless, penetrance estimates for monogenic variant carriers average 60% or lower for most conditions. We assess epidemiologic and genetic factors contributing to risk prediction in monogenic variant carriers, demonstrating that inclusion of polygenic variation significantly improves biomarker estimation for two monogenic dyslipidemias.

scholarly journals Associations between Red Blood Cell and Platelet Transfusions and Retinopathy of Prematurity

Neonatology ◽  
2020 ◽  
pp. 1-7
Author(s):  
Tobias Hengartner ◽  
Mark Adams ◽  
Riccardo E. Pfister ◽  
Diane Snyers ◽  
Jane McDougall ◽  
...  
Keyword(s):  
Retinopathy Of Prematurity ◽  
Odds Ratio ◽  
Case Control Study ◽  
Case Control ◽  
Control Group ◽  
Case Group ◽  
Same Sex ◽  
Live Births ◽  
Adjusted Logistic Regression ◽  
Control Study

<b><i>Aim:</i></b> The aim of this study is to examine possible associations between the transfusion of RBC or platelets (PLTs) and the development of retinopathy of prematurity (ROP) in infants. <b><i>Methods:</i></b> This retrospective, national, case-control study included all live births in Switzerland between 2013 and 2018. We investigated preterm infants at a gestational age of &#x3c;28 weeks, who developed higher stage ROP (≥stage 2, <i>n</i> = 178). Each case infant was matched to another of the same sex who did not develop ROP (<i>n</i> = 178, control group). <b><i>Results:</i></b> When compared with the control group, we observed higher numbers of RBC transfusions per infant and higher percentages of infants receiving PLT transfusions in the case group. An adjusted logistic regression analysis revealed that both RBC (odds ratio [OR] 1.081, 95% confidence interval [CI] 1.020–1.146) and PLT transfusions (OR = 2.502, 95% CI 1.566–3.998) numbers were associated with ROP development. <b><i>Conclusions:</i></b> Multiple RBC and PLT transfusions are associated with higher stage ROP development. Prospective studies are required to determine their potential as risk factors.

Risk Factors for Measles Vaccine Failure Among Immunized Students

PEDIATRICS ◽  
1985 ◽  
Vol 76 (4) ◽  
pp. 518-523
Author(s):  
Harry F. Hull ◽  
Jean M. Montes ◽  
Patricia C. Hays ◽  
Robert L. Lucero
Keyword(s):  
Risk Factors ◽  
School System ◽  
Odds Ratio ◽  
Case Control Study ◽  
Case Control ◽  
Measles Vaccine ◽  
Vaccine Failure ◽  
Control Study

An outbreak of measles occurred in a municipal school system which had reported 98% of students immunized against measles. A case-control study was conducted to determine reasons for vaccine failure Vaccine failure was associated with immunizations that could not be documented in the provider's records. Among children with provider-documented immunization, vaccine failure was associated with vaccination at 12 to 14 months of age with an odds ratio of 4.73. Among children vaccinated at 15 months or older, vaccine failure was not associated with time elapsed since vaccination. Studies should be conducted to determine whether unreliable immunization records are a more widespread problem. Further consideration should be given to routine revaccination of children previously vaccinated at 12 to 14 months of age.

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