A5046390960- Childhood Cancer Survivors' Quality of Life
- BRCA gene mutations in cancer
- Vector-borne infectious diseases
- Mosquito-borne diseases and control
- Acute Lymphoblastic Leukemia research
- Reproductive Biology and Fertility
- Viral Infections and Vectors
- Family Support in Illness
- Acute Myeloid Leukemia Research
- DNA Repair Mechanisms
- Cancer Risks and Factors
- Nutrition, Genetics, and Disease
- Zoonotic diseases and public health
- Ovarian cancer diagnosis and treatment
- COVID-19 epidemiological studies
- Imbalanced Data Classification Techniques
- Medical Coding and Health Information
- Salmonella and Campylobacter epidemiology
- Genomics and Chromatin Dynamics
- Health disparities and outcomes
- Clostridium difficile and Clostridium perfringens research
- Hematopoietic Stem Cell Transplantation
- Statistical Methods in Clinical Trials
- Hepatitis C virus research
- Statistical Methods and Bayesian Inference
St. Jude Children's Research Hospital
2017-2024
University of Tennessee Health Science Center
2018
Memorial Sloan Kettering Cancer Center
2018
Juno Therapeutics (Germany)
2018
Pfizer (United Kingdom)
2018
Gilead Sciences (Germany)
2018
Medtronic (United States)
2018
Cytokinetics (United States)
2018
Incyte (United States)
2018
Alpine Immune Sciences (United States)
2018
Efficient and reliable surveillance notification systems are vital for monitoring public health disease outbreaks. However, most affected by a degree of underestimation (UE) therefore uncertainty surrounds the 'true' incidence affecting morbidity mortality rates. Surveillance fail to capture cases at two distinct levels pyramid: from community since not all seek healthcare (under-ascertainment), healthcare-level, representing failure adequately report symptomatic that have sought medical...
Long-term follow-up data on premature ovarian insufficiency (POI) in childhood cancer survivors are limited. To describe the prevalence of POI, its risk factors, and associated long-term adverse health outcomes. Cross-sectional. The St. Jude Lifetime Cohort Study, an established cohort a tertiary care center. Nine hundred twenty-one participants (median age, 31.7 years) were evaluated at median 24.0 years after diagnosis. POI was defined by persistent amenorrhea combined with...
Purpose Childhood cancer survivors are at increased risk of subsequent neoplasms (SNs), but the germline genetic contribution is largely unknown. We assessed pathogenic/likely pathogenic (P/LP) mutations in predisposition genes to their SN risk. Patients and Methods Whole-genome sequencing (30-fold) was performed on samples from childhood who were ≥ 5 years since initial diagnosis participants St Jude Lifetime Cohort Study, a retrospective hospital-based study with prospective clinical...
The recent outbreak of Q fever in the Netherlands between 2007 and 2009 is largest recorded outbreak. Exposure to Coxiella burnetii may cause but size population exposed during remained uncertain as little known infectivity this pathogen. quantification infectiousness corresponding response necessary for assessing risk population. A human challenge study was published 1950s quantified dose C. relative units. Data from a concurrent guinea pig were combined with which pigs challenged similar...
In 2009, the European Centre for Disease Prevention and Control initiated 'Burden of Communicable Diseases in Europe (BCoDE)' project to generate evidence-based comparable burden-of-disease estimates infectious diseases Europe. The metric used was Disability-Adjusted Life Year (DALY), composed years life lost due premature death (YLL) disability (YLD). To better represent diseases, a pathogen-based approach linking incident cases sequelae through outcome trees. Health outcomes were included...
Incremental value (IncV) evaluates the performance change between an existing risk model and a new model. Different IncV metrics do not always agree with each other. For example, compared prescribed-dose model, ovarian-dose for predicting acute ovarian failure has slightly lower area under receiver operating characteristic curve (AUC) but increases precision-recall (AP) by 48%. This phenomenon of disagreement is uncommon, can create confusion when assessing whether added information improves...
SUMMARY Setting priorities in the field of infectious diseases requires evidence-based and robust baseline estimates disease burden. Therefore, European Centre for Disease Prevention Control initiated Burden Communicable Diseases Europe (BCoDE) project. The project uses an incidence- pathogen-based approach to measure impact both acute illness sequelae expressed disability-adjusted life years (DALYs). This study presents first burden four pathogens Germany. number reported incident cases...
Individuals with monogenic disorders can experience variable phenotypes that are influenced by genetic variation. To investigate this in sickle cell disease (SCD), we performed whole-genome sequencing (WGS) of 722 individuals hemoglobin HbSS or HbSβ0-thalassemia from Baylor College Medicine and the St. Jude Children's Research Hospital Sickle Cell Clinical Intervention Program (SCCRIP) longitudinal cohort study. We developed pipelines to identify variants modulate polymerization red blood...
Childhood cancer survivors are at increased risk of therapy-related premature menopause (PM), with a cumulative incidence 8.0%, but the contribution genetic factors is unknown. Genome-wide association analyses were conducted to identify single nucleotide polymorphisms (SNPs) associated clinically diagnosed PM (menopause < 40 years) among 799 female childhood participating in St. Jude Lifetime Cohort Study (SJLIFE). Analyses adjusted for cyclophosphamide equivalent dose alkylating agents and...
As a major zoonotic pathogen, characterization of the infectivity and pathogenicity Coxiella burnetii is essential to understand Q-fever epidemiology. We want extend recently published human dose response model based on experimental challenge young adult males include other age groups both genders. Additionally, we can estimate spatial distribution exposure observed outbreak data. Dose assessment challenge, extended by including data, using location cases as proxy for exposure. This allows...
To estimate the absolute number of adult survivors childhood cancer in U.S. population who carry a pathogenic or likely variant predisposition gene.Using Surveillance, Epidemiology, and End Results (SEER) Program, we estimated on December 31, 2016 for each diagnosis, multiplied this by proportion carriers pathogenic/likely variants St. Jude Lifetime Cohort (SJLIFE) study, projected resulting onto U.S.Based genome sequence data, 11.8% 2450 SJLIFE participants one 156 genes. Given information,...
Female childhood cancer survivors (CCSs) carry a risk of therapy-related gonadal dysfunction. Alkylating agents (AA) are well-established factors, yet inter-individual variability in ovarian function is observed. Polymorphisms CYP450 enzymes may explain this AA-induced damage. We aimed to evaluate associations between previously identified genetic polymorphisms and AA-related among adult CCSs.Anti-Müllerian hormone (AMH) levels served as proxy for discovery cohort female CCSs, from the...
In 2009, the European Centre for Disease Prevention and Control initiated 'Burden of Communicable Diseases in Europe (BCoDE)' project to generate evidence-based comparable burden-of-disease estimates infectious diseases Europe.The metric used was Disability-Adjusted Life Year (DALY), composed years life lost due premature death (YLL) disability (YLD).To better represent diseases, a pathogen-based approach linking incident cases sequelae through outcome trees.Health outcomes were included if...
SUMMARY In 2009 two notable outbreaks, Q fever and the novel influenza A(H1N1)pdm09, occurred in The Netherlands. Using a composite health measure, disability-adjusted life years (DALYs), outbreaks were quantified compared. DALYs calculated using standardized methodology incorporating age- sex-stratified data disease progression model; lost due to disability of computed by outcome. Nationally, A(H1N1)pdm09 caused more (24 484) than (5797). However, was 8·28 times severe [497 DALYs/1000...
We develop a novel approach to study an outbreak of Q fever in 2009 the Netherlands by combining human dose-response model with geostatistics prediction relate probability infection and associated illness effective dose Coxiella burnetii. The spatial distribution 220 notified cases at-risk population are translated into smooth field dose. Based on these symptomatic cases, predicts median 611 asymptomatic infections (95% range: 410, 1,084) for reported population; 2.78 1.86, 4.93) each case....
<h3>Objective</h3> To discover new variants associated with low ovarian reserve after gonadotoxic treatment among adult female childhood cancer survivors using a genome-wide association study approach. <h3>Design</h3> Genome-wide study. <h3>Setting</h3> Not applicable. <h3>Patients</h3> A discovery cohort of from the pan-European PanCareLIFE (n = 743; median age: 25.8 years), excluding those who received bilateral irradiation, oophorectomy, central nervous system or total body stem cell...
Abstract Childhood cancer survivors are at increased risk of subsequent neoplasms (SN), largely considered to be therapy-related. Studies predisposition genes (CPGs) and SN among long-term lacking. We characterized germline mutations in CPGs childhood determine their contribution risk. Whole genome (30x) exome (100x) sequencing was performed for 2988 5+ year (1629 leukemia/lymphoma, 332 CNS, 1027 other solid tumors, 53% male, median follow-up 28 [range 6-55] years). Survivors underwent a...
10502 Background: CCS are at increased risk of therapy-related PM but contribution genetic factors is unknown. Methods: Using Affymetrix 6.0 SNP array, treatment exposures [cumulative alkylating agents (AA), ovarian radiotherapy (RT) dose] and clinically-assessed status (menopause < 40 years), a genome-wide association analysis was conducted using logistic regression in SJLIFE. A cluster most statistically significant SNPs on chr4 further examined, stratifying by RT AA. Replication...
(Abstracted from J Clin Endocrinol Metab 2017;102:2242–2250) Survivors of childhood cancer are at an increased risk premature ovarian insufficiency (POI) because the vulnerability ovaries to pelvic radiotherapy, alkylating agent chemotherapy, and other gonadotoxic treatment modalities. Although POI can occur early, during, or immediately following completion, it more commonly develops in years completion but prior age 40 years.
Summary The Netherlands underwent a large Q fever outbreak between 2007 and 2009. In this paper, we study spatial temporal Coxiella burnetii exposure trends during as well validate outcomes against other published studies provide evidence to support hypotheses on the causes of outbreak. To achieve this, develop framework using dose–response model translate acute case incidence into estimates. More specifically, incorporate geostatistical that accounts for correlation estimates from human...