Managing incidental findings and disclosure of results in a paediatric research cohort – the LIFE Child Study cohort

AbstractTo assess the frequency of incidental findings (IFs) in the population-based “Leipzig Research Centre for Civilization Diseases (LIFE) Child Study” within 1 year.From July 2011 to June 2012, 969 children participated in the study. The IFs were analysed with respect to age, gender, type of examination and clinical action taken.The IFs were detected in 63 participants (6.5%), including five children who presented with two IFs simultaneously. Eleven children received a new, hence previously unknown, clinical diagnosis. Alternatively, 18 IFs could not be confirmed or were of a transient and self-limiting condition. The frequency of IFs varied widely depending on the type of examination, but did not differ by gender.Although IFs were common events, there was no finding with a profound clinical impact on the subject’s life. Our current IF management protocol may be useful in creating management plans for other cohort studies.

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Folate and Cobalamin Serum Levels in Healthy Children and Adolescents and Their Association with Age, Sex, BMI and Socioeconomic Status

Nutrients ◽

10.3390/nu13020546 ◽

2021 ◽

Vol 13 (2) ◽

pp. 546

Author(s):

Paulina Kreusler ◽

Mandy Vogel ◽

Anja Willenberg ◽

Ronny Baber ◽

Yvonne Dietz ◽

...

Keyword(s):

Socioeconomic Status ◽

Children And Adolescents ◽

Serum Levels ◽

Population Based ◽

Research Centre ◽

Healthy Children ◽

Serum Samples ◽

Lms Method ◽

Healthy Participants ◽

Age And Sex

This study proposes age- and sex-specific percentiles for serum cobalamin and folate, and analyzes the effects of sex, age, body mass index (BMI), and socioeconomic status (SES) on cobalamin and folate concentrations in healthy children and adolescents. In total, 4478 serum samples provided by healthy participants (2 months–18.0 years) in the LIFE (Leipzig Research Centre for Civilization Diseases) Child population-based cohort study between 2011 and 2015 were analyzed by electrochemiluminescence immunoassay (ECLIA). Continuous age-and sex-related percentiles (2.5th, 10th, 50th, 90th, 97.5th) were estimated, applying Cole’s LMS method. In both sexes, folate concentrations decreased continuously with age, whereas cobalamin concentration peaked between three and seven years of age and declined thereafter. Female sex was associated with higher concentrations of both vitamins in 13- to 18-year-olds and with higher folate levels in one- to five-year-olds. BMI was inversely correlated with concentrations of both vitamins, whilst SES positively affected folate but not cobalamin concentrations. To conclude, in the assessment of cobalamin and folate status, the age- and sex-dependent dynamic of the respective serum concentrations must be considered. While BMI is a determinant of both vitamin concentrations, SES is only associated with folate concentrations.

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Alternative lengthening of telomeres in childhood neuroblastoma from genome to proteome

Nature Communications ◽

10.1038/s41467-021-21247-8 ◽

2021 ◽

Vol 12 (1) ◽

Cited By ~ 1

Author(s):

Sabine A. Hartlieb ◽

Lina Sieverling ◽

Michal Nadler-Holly ◽

Matthias Ziehm ◽

Umut H. Toprak ◽

...

Keyword(s):

High Frequency ◽

Clinical Course ◽

Population Based ◽

Telomeric Repeat ◽

Telomere Maintenance ◽

Study Cohort ◽

Alternative Lengthening Of Telomeres ◽

Course Of Disease ◽

Low Protein ◽

Alternative Lengthening

AbstractTelomere maintenance by telomerase activation or alternative lengthening of telomeres (ALT) is a major determinant of poor outcome in neuroblastoma. Here, we screen for ALT in primary and relapsed neuroblastomas (n = 760) and characterize its features using multi-omics profiling. ALT-positive tumors are molecularly distinct from other neuroblastoma subtypes and enriched in a population-based clinical sequencing study cohort for relapsed cases. They display reduced ATRX/DAXX complex abundance, due to either ATRX mutations (55%) or low protein expression. The heterochromatic histone mark H3K9me3 recognized by ATRX is enriched at the telomeres of ALT-positive tumors. Notably, we find a high frequency of telomeric repeat loci with a neuroblastoma ALT-specific hotspot on chr1q42.2 and loss of the adjacent chromosomal segment forming a neo-telomere. ALT-positive neuroblastomas proliferate slowly, which is reflected by a protracted clinical course of disease. Nevertheless, children with an ALT-positive neuroblastoma have dismal outcome.

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A novel body circumferences-based estimation of percentage body fat

British Journal Of Nutrition ◽

10.1017/s0007114518000223 ◽

2018 ◽

Vol 119 (6) ◽

pp. 720-725 ◽

Cited By ~ 3

Author(s):

Yair Lahav ◽

Yoram Epstein ◽

Ron Kedem ◽

Haggai Schermann

Keyword(s):

Body Fat ◽

Field Research ◽

Cost Effective ◽

Population Based ◽

Reliable Estimate ◽

Study Cohort ◽

Anthropometric Measures ◽

Percentage Body Fat ◽

Health Club ◽

Body Circumferences

AbstractAnthropometric measures of body composition are often used for rapid and cost-effective estimation of percentage body fat (%BF) in field research, serial measurements and screening. Our aim was to develop a validated estimate of %BF for the general population, based on simple body circumferences measures. The study cohort consisted of two consecutive samples of health club members, designated as ‘development’ (n 476, 61 % men, 39 % women) and ‘validation’ (n 224, 50 % men, 50 % women) groups. All subjects underwent anthropometric measurements as part of their registration to a health club. Dual-energy X-ray absorptiometry (DEXA) scan was used as the ‘gold standard’ estimate of %BF. Linear regressions where used to construct the predictive equation (%BFcal). Bland–Altman statistics, Lin concordance coefficients and percentage of subjects falling within 5 % of %BF estimate by DEXA were used to evaluate accuracy and precision of the equation. The variance inflation factor was used to check multicollinearity. Two distinct equations were developed for men and women: %BFcal (men)=10·1−0·239H+0·8A−0·5N; %BFcal (women)=19·2−0·239H+0·8A−0·5N (H, height; A, abdomen; N, neck, all in cm). Bland–Altman differences were randomly distributed and showed no fixed bias. Lin concordance coefficients of %BFcal were 0·89 in men and 0·86 in women. About 79·5 % of %BF predictions in both sexes were within ±5 % of the DEXA value. The Durnin–Womersley skinfolds equation was less accurate in our study group for prediction of %BF than %BFcal. We conclude that %BFcal offers the advantage of obtaining a reliable estimate of %BF from simple measurements that require no sophisticated tools and only a minimal prior training and experience.

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Adjuvant Hormonotherapy and Cardiovascular Risk in Post-Menopausal Women with Breast Cancer: A Large Population-Based Cohort Study

Cancers ◽

10.3390/cancers13092254 ◽

2021 ◽

Vol 13 (9) ◽

pp. 2254

Author(s):

Matteo Franchi ◽

Roberta Tritto ◽

Luigi Tarantini ◽

Alessandro Navazio ◽

Giovanni Corrao

Keyword(s):

Breast Cancer ◽

Heart Failure ◽

Adjuvant Therapy ◽

Large Population ◽

Positive Association ◽

Population Based ◽

Study Cohort ◽

Increased Risk ◽

Post Menopausal ◽

New Diagnosis

Background: Whether aromatase inhibitors (AIs) increase the risk of cardiovascular (CV) events, compared to tamoxifen, in women with breast cancer is still debated. We evaluated the association between AI and CV outcomes in a large population-based cohort of breast cancer women. Methods: By using healthcare utilization databases of Lombardy (Italy), we identified women ≥50 years, with new diagnosis of breast cancer between 2009 and 2015, who started adjuvant therapy with either AI or tamoxifen. We estimated the association between exposure to AI and CV outcomes (including myocardial infarction, ischemic stroke, heart failure or any CV event) by a Cox proportional hazard model with inverse probability of treatment and censoring weighting. Results: The study cohort included 26,009 women starting treatment with AI and 7937 with tamoxifen. Over a median follow-up of 5.8 years, a positive association was found between AI and heart failure (Hazard Ratio = 1.20, 95% CI: 1.02 to 1.42) and any CV event (1.14, 1.00 to 1.29). The CV risk increased in women with previous CV risk factors, including hypertension, diabetes and dyslipidemia. Conclusions: Adjuvant therapy with AI in breast cancer women aged more than 50 years is associated with increased risk of heart failure and combined CV events.

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A commentary on “Primary tumor removal improves the prognosis in patients with stage IV breast cancer: A population-based study (cohort study)” (Int J Surg 2020; 83: 109–114)

International Journal of Surgery ◽

10.1016/j.ijsu.2021.106029 ◽

2021 ◽

pp. 106029

Author(s):

Jing Gao ◽

Xiaoli Xu

Keyword(s):

Breast Cancer ◽

Cohort Study ◽

Primary Tumor ◽

Stage Iv ◽

Population Based ◽

Study Cohort ◽

Tumor Removal ◽

Population Based Study ◽

Stage Iv Breast Cancer

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Prenatal and postnatal risk factors for infantile pneumonia in a representative birth cohort

Epidemiology and Infection ◽

10.1017/s0950268811001890 ◽

2011 ◽

Vol 140 (7) ◽

pp. 1277-1285 ◽

Cited By ~ 11

Author(s):

C. H. CHEN ◽

H. J. WEN ◽

P. C. CHEN ◽

S. J. LIN ◽

T. L. CHIANG ◽

...

Keyword(s):

Risk Factors ◽

Family Environment ◽

Large Population ◽

Multivariate Logistic Regression Analysis ◽

Antibiotic Use ◽

Population Based ◽

Study Cohort ◽

Mortality And Morbidity ◽

Smoking During Pregnancy ◽

Maternal Overweight

SUMMARYPneumonia is an important cause of mortality and morbidity in infants. However, information of risk factors for pneumonia in children aged <6 months is limited. This study aimed to evaluate the risk factors and their contribution to infantile pneumonia in a large population-based survey. Of 24 200 randomly sampled main caregivers invited, 21 248 (87·8%) participated in this study. A structured questionnaire was used to interview the main caregivers. Information regarding whether hospitalization was required, family environment, and medical history were obtained. The prevalence of pneumonia was 0·62% in our study cohort. Multivariate logistic regression analysis showed that preterm birth, congenital cardiopulmonary disease, antibiotic use during pregnancy, maternal overweight, daily prenatal exposure to environmental tobacco smoke, maternal smoking during pregnancy, and visible mould on walls at home are risk factors associated with infantile pneumonia. Further study is warranted to investigate the causality and mechanisms of these novel factors.

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Letter by Meinel et al. regarding article, “Incidental findings on 3 T neuroimaging: cross‑sectional observations from the population‑based Rhineland Study”

Neuroradiology ◽

10.1007/s00234-022-02893-1 ◽

2022 ◽

Author(s):

Thomas Raphael Meinel ◽

Laurent Roten ◽

Joanna Wardlaw ◽

Urs Fischer

Keyword(s):

Incidental Findings ◽

Population Based ◽

Cross Sectional

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Huntington’s Disease in Israel: A Population-based Study Using 20 Years of Routinely-Collected Healthcare Data

Journal of Huntington s Disease ◽

10.3233/jhd-210500 ◽

2021 ◽

pp. 1-9

Author(s):

Natalie Gavrielov-Yusim ◽

Yael Barer ◽

Michael Martinec ◽

Athanasios Siadimas ◽

Spyros Roumpanis ◽

...

Keyword(s):

Huntington's Disease ◽

Huntington’S Disease ◽

Healthcare Utilization ◽

Behavioral Problems ◽

Clinical Manifestations ◽

Population Based ◽

Emergency Department Visits ◽

Study Cohort ◽

Population Based Study ◽

Healthcare Data

Background: Huntington’s disease (HD) is a rare, genetic, neurodegenerative disease. Obtaining population-level data on epidemiology and disease management is challenging. Objective: To investigate the epidemiology, clinical manifestations, treatment, and healthcare utilization of patients with HD in Israel. Methods: Retrospective population-based cohort study, including 20 years of routinely collected data from Maccabi Healthcare Services, an insurer and healthcare provider for one-quarter of the Israeli population. Results: The study cohort included 109 adult patients (aged ≥18 years) diagnosed with HD, with mean age of 49.9 years and 56%females. The most common HD-related conditions were anxiety (40%), behavioral problems (34%), sleep disorders (21%), and falls (13%). Annual incidence rates for HD ranged from 0.17 to 1.34 per 100,000 from 2000 to 2018; the 2018 crude prevalence in adults was 4.36 per 100,000. Median survival from diagnosis was approximately 12 years (95%CI: 10.4–15.3). The most frequent symptomatic treatments were antidepressants (69%), antipsychotics (63%), and tetrabenazine (63%), the only drug approved for the treatment of HD chorea in Israel during the examined period. Patterns of healthcare utilization changed as disease duration increased, reflected by increased frequency of emergency department visits and home visits. Conclusion: This retrospective population-based study provides insights into the prevalence, incidence, clinical profile, survival, and resource utilization of patients with HD in ethnically diverse Israel. The findings in this study are generally consistent with the international literature and demonstrate the value of routinely collected healthcare data as a complementary resource in HD research.

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Familial Aggregation of Psoriasis and Co-Aggregation of Autoimmune Diseases in Affected Families

Journal of Clinical Medicine ◽

10.3390/jcm8010115 ◽

2019 ◽

Vol 8 (1) ◽

pp. 115 ◽

Cited By ~ 5

Author(s):

Yu-Huei Huang ◽

Chang-Fu Kuo ◽

Lu-Hsiang Huang ◽

Mei-Yun Hsieh

Keyword(s):

Autoimmune Diseases ◽

Genetic Factors ◽

Familial Aggregation ◽

Population Based ◽

Study Cohort ◽

Genetic Contribution ◽

Degree Relative ◽

Nationwide Study ◽

Relative Risks ◽

History Of

Psoriasis is considered to result from the interaction of genetic factors and environmental exposure. The evidence for familial aggregation in psoriasis has been reported but population-based studies related to the magnitude of genetic contribution to psoriasis are rare. This study aimed to evaluate the relative risks of psoriasis in individuals with affected relatives and to calculate the proportion of genetic, shared, and non-shared environmental factors contributing to psoriasis. The study cohort included 69,828 patients diagnosed with psoriasis enrolled in National health Insurance in 2010. The adjusted relative risks (RR) for individuals with an affected first-degree relative and affected second-degree relative were 5.50 (95% CI (Confidence Interval), 5.19–5.82) and 2.54 (95% CI, 2.08–3.12) respectively. For those who have affected first-degree relatives, their RR was 1.45 (95% CI, 1.17–1.79) for Sjogren’s syndrome and 1.94 (95% CI, 1.15–3.27) for systemic sclerosis. This nationwide study ascertains that family history of psoriasis is a risk factor for psoriasis. Individuals with relatives affected by psoriasis have higher risks of developing some autoimmune diseases.

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