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Unusual Presentation of Beckwith-Wiedemann Syndrome in an Extremely Low Birth Weight Infant.
Cureus
June 2024
Department of Pediatrics, Bahrain Defense Force Hospital, Royal Medical Services, Riffa, BHR.
Beckwith-Wiedemann syndrome (BWS) is a genetic disorder that affects fetal growth in which those afflicted present with features pertaining to that, such as macrosomia, macroglossia, hemihypertrophy, and abdominal wall defects. This case reports the presentation of an infant diagnosed with BWS who was born with an extremely low birth weight of 980 grams, in contrast to the typical presentation of overgrowth and macrosomia. As a result, reaching a diagnosis of BWS was delayed until the patient reached eight months of age, when other clinical features of BWS, such as hemihypertrophy, became apparent on follow-up visits.
View Article and Find Full Text PDFCongenital Tooth Agenesis and Risk of Early-Onset Cancer.
JAMA Netw Open
March 2024
Department of Clinical Medicine, Aarhus University, Aarhus, Denmark.
Importance: There is some evidence that tooth agenesis (congenital absence of 1 or more teeth) is associated with cancer risk, especially carcinomas of the colon and ovaries, but results of previous studies are conflicting, and associations have not yet been evaluated in a population-based setting.
Objective: To examine the association between tooth agenesis and specific cancer types before 40 years of age.
Design, Setting, And Participants: This population-based cohort study used linking data from nationwide registries in Denmark to assess all Danish live-born singletons born from January 1, 1977, to December 31, 2018, and followed up for up to 40 years.
A Long-Term Survivor of Trisomy 18.
Cureus
January 2024
Radiation Oncology, University of California Los Angeles, Los Angeles, USA.
Article Synopsis
- - The report discusses a rare case of a two-and-a-half-year-old girl with Trisomy 18, a condition usually resulting in a very short lifespan for infants, highlighting her survival and progress due to specialized medical care.
- - Despite facing serious health challenges like congenital heart defects and hepatoblastoma, she received successful treatments, including surgeries and chemotherapy.
- - This case illustrates the potential for modern medical advancements and a collaborative healthcare approach to improve outcomes and quality of life for those with Trisomy 18, challenging the typical negative outlook associated with the condition.
Retreatment with Cisplatin May Provide a Survival Advantage for Children with Relapsed/Refractory Hepatoblastoma: An Institutional Experience.
Cancers (Basel)
August 2023
Division of Pediatric Hematology/Oncology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA.
Background: Hepatoblastoma (HB) is the most common liver malignancy in children. There is no standard of care for management of relapsed/refractory HB (rrHB) and reports in the literature are limited.
Objective: To describe presenting features, biology, treatment strategies, and outcomes for pediatric patients with relapsed/refractory hepatoblastoma.
Associations between birth defects with neural crest cell origins and pediatric embryonal tumors.
Cancer
November 2023
Department of Epidemiology, Gillings School of Global Public Health, The University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA.
Background: There are few assessments evaluating associations between birth defects with neural crest cell developmental origins (BDNCOs) and embryonal tumors, which are characterized by undifferentiated cells having a molecular profile similar to neural crest cells. The effect of BDNCOs on embryonal tumors was estimated to explore potential shared etiologic pathways and genetic origins.
Methods: With the use of a multistate, registry-linkage cohort study, BDNCO-embryonal tumor associations were evaluated by generating hazard ratios (HRs) and 95% confidence intervals (CIs) with Cox regression models.
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