A5083426065- Congenital Diaphragmatic Hernia Studies
- Neonatal Respiratory Health Research
- Neuroendocrine Tumor Research Advances
- Tracheal and airway disorders
- Congenital Anomalies and Fetal Surgery
- Testicular diseases and treatments
- Chronic Obstructive Pulmonary Disease (COPD) Research
- Medical Imaging and Pathology Studies
- BRCA gene mutations in cancer
- Urinary and Genital Oncology Studies
- Neonatal Health and Biochemistry
- Blood disorders and treatments
- DNA Repair Mechanisms
- Head and Neck Surgical Oncology
- Soft tissue tumor case studies
- Metastasis and carcinoma case studies
- Family and Patient Care in Intensive Care Units
- Caveolin-1 and cellular processes
- Library Science and Information Systems
- Publishing and Scholarly Communication
- Ocular Disorders and Treatments
- Interpreting and Communication in Healthcare
- Genomics and Rare Diseases
- Congenital Heart Disease Studies
- Race, Genetics, and Society
Westat (United States)
2008-2024
University of Washington
2024
St. Christopher's Hospital for Children
2022
Drexel University
2022
United States Public Health Service Commissioned Officers Association
2020
National Center on Birth Defects and Developmental Disabilities
2019
National Cancer Institute
2016
Children's National
1996
George Washington University
1996
Summary Fanconi anaemia (FA), dyskeratosis congenita (DC), Diamond‐Blackfan (DBA), and Shwachman‐Diamond syndrome (SDS) comprise major inherited bone marrow failure syndromes (IBMFS). Adverse events include severe (BMF), myelodysplastic (MDS), acute myeloid leukaemia (AML), solid tumours (ST). The natural history of FA is well characterised; hazard rates in the other have not yet been quantified. An open cohort was established at National Cancer Institute (NCI) 2002. Patients enrolled prior...
Abstract Context: The risk of thyroid cancer and multinodular goiter (MNG) in DICER1 syndrome, a rare tumor-predisposition disorder, is unknown. Objective: To quantify the MNG individuals with syndrome. Design: Family-based cohort study. Setting: National Institutes Health (NIH) Clinical Center (CC). Participants: Cancer Institute syndrome included 145 germline mutation 135 family controls from 48 families. Interventions: Each individual completed detailed medical history questionnaire. A...
Purpose DICER1 syndrome is an autosomal-dominant, pleiotropic tumor-predisposition disorder caused by pathogenic germline variants in DICER1. We sought to quantify risk, hazard rates, and the probability of neoplasm incidence accounting for competing risks (“cumulative incidence”) neoplasms (benign malignant) standardized ratios malignant tumors individuals with variation. Patients Methods combined data from three large cohorts patients who carry variation To reduce ascertainment bias, we...
<h3>Importance</h3> Genetic disorders are historically defined through phenotype-first approaches. However, risk estimates derived from phenotype-linked ascertainment may overestimate severity and penetrance. Pathogenic variants in<i>DICER1</i>are associated with increased risks of rare common neoplasms thyroid disease in adults children. This study explored how effectively a genome-first approach could characterize the clinical traits germline<i>DICER1</i>putative loss-of-function (pLOF) an...
Background Pleuropulmonary blastoma (PPB), the hallmark tumour associated with DICER1 -related predisposition, is characterised by an age-related progression from a cystic lesion (type I) to high-grade sarcoma mixed and solid features II) or purely III). Not all PPBs progress; type Ir (regressed), hypothesised represent regressed non-progressed I PPB, air-filled, lacking primitive sarcomatous component. This study aims evaluate prevalence of lung cysts detected CT scan in adolescents adults...
Given the repetitive structure of crystalline ice, it is unsurprising that highly active ice-binding proteins, often with beta-roll structures, also have repeating motifs. Here, we introduce a de novo designed family twistless alpha-helical repeat (iTHR) proteins. Each iTHR protein comprises two planar layers parallel alpha-helices connected by loops-a structural topology not seen in native The helices feature an ordered array TXXXAXXXAXX motifs, spaced to match pyramidal {201} and secondary...
DICER1-related tumor predisposition increases risk for a spectrum of benign and malignant tumors. In 2018, the International Pleuropulmonary Blastoma (PPB)/DICER1 Registry published guidelines testing- imaging-based surveillance individuals with known or suspected germline DICER1 pathogenic likely (P/LP) variant. One goals is to continue refine these as additional data become available.
Germline pathogenic variants in
Inherited bone marrow failure syndromes (IBMFS) including Fanconi anemia, dyskeratosis congenita, Diamond-Blackfan and Shwachman-Diamond syndrome are rare genetic disorders characterized by hematologic complications increased risk of cancer. Patients their families likely experience obstacles in obtaining sufficient health information given disorders' rarity. To investigate this possibility, we examined information-seeking behaviors levels general disorder-specific knowledge among 315...
Pseudosymmetric hetero-oligomers with three or more unique subunits overall structural (but not sequence) symmetry play key roles in biology, and systematic approaches for generating such proteins de novo would provide new routes to controlling cell signaling designing complex protein materials. However, the design of distinct chains nearly identical structures is a challenging unsolved problem because it requires accurate multiple protein-protein interfaces simultaneously. Here, we describe...
Abstract Purpose It was our aim to determine baseline levels of testicular cancer and genetics knowledge among members families with Familial Testicular Cancer (FTC). Methods This is a sub‐study an ongoing National Institute (NCI) multidisciplinary, etiologically‐focused, cross‐sectional study FTC. We evaluated 258 male female participants including (TC) survivors, blood relatives spouses assess factors associated Genetic Knowledge Scale (GKS) (TCKS). Results were generally low, genetic...
DICER1 syndrome is a rare paediatric autosomal dominant inherited disorder predisposing to various benign and malignant tumours. It caused by germline pathogenic variant in , the second hit for tumour development usually missense hotspot ribonuclease IIIb domain. While variants account about 60% of ovarian Sertoli-Leydig cell tumours, no -related testicular stromal tumours have been described. Here we report first two cases children carrying variant: case Sertoli Leydig diagnosed at 2 12...
Nasal chondromesenchymal hamartomas are benign, rare nasal tumors associated with DICER1 pathogenic germline variation. They can be locally destructive and recurrent if not completely resected.In this single-center, case-control study, otorhinolaryngology evaluations review of systems questionnaires DICER1-carriers controls enrolled in the Natural History Study at National Cancer Institute were collected. Review these medical records analyzed to determine experienced different sinonasal...
Abstract Pathogenic germline variation in the microRNA processing gene DICER1 gives rise to an autosomal dominant, tumor‐predisposition disorder. Conditional deletion of Dicer1 murine dental epithelium shows that it controls tooth patterning, size, number, and shape. The human phenotype people with pathogenic is unknown. ‐carriers (n = 57) family 55) were evaluated at NIH Clinical Center clinic as part a comprehensive medical evaluation. Digital panoramic radiographs, bite‐wing oral...