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Infant With Beckwith-Wiedemann Requiring Transplant for Hepatic Mesenchymal Hamartoma.
Pediatr Transplant
February 2025
Thomas Jefferson University Hospital, Philadelphia, Pennsylvania, USA.
Background: Liver transplantation for unresectable, benign hepatic lesions is rare. Hepatic mesenchymal hamartomas (HMH) are benign, cystic tumors that arise mostly in pediatric populations and can cause compressive symptoms. HMH is rarely associated with placental mesenchymal dysplasia (PMD) and Beckwith-Wiedemann syndrome (BWS).
View Article and Find Full Text PDFPlacental Mesenchymal Dysplasia with Unique Chromosomal Abnormality and Unusual Histopathology: A Case Report and Literature Review.
Fetal Pediatr Pathol
November 2024
Perinatal Pathology, The Warren Alpert Medical School of Brown University, Providence, Rhode Island, USA.
Placental mesenchymal dysplasia (PMD), rare vascular and connective tissue placental anomaly can be associated with fetal intrauterine growth restriction (IUGR), stillbirth, Beckwith-Wiedemann syndrome (BWS), some chromosomal abnormalities, or phenotypically and genetically normal fetuses [1]. We reviewed a PMD case from our institution characterized by a previously undescribed chromosomal abnormality along with an unreported histopathologic finding.
View Article and Find Full Text PDFHiding in Plain Sight: Radiologic and Pathologic Findings Can Identify Beckwith-Wiedemann Syndrome in Patients With Wilms Tumor.
J Pediatr Hematol Oncol
November 2024
Department of Pathology and Laboratory Medicine, Division of Anatomic Pathology, University of Miami Miller School of Medicine, Miami, FL.
Most pediatric specialists, including hematologists/oncologists, surgeons, radiologists, and pathologists, are familiar with the diagnosis and management of Wilms tumor (WT). However, it may be challenging to identify the underlying conditions causing cancer predisposition, which can change the management for the patient and potentially their entire family. In this paper, we present 3 cases of clinically suspected WT associated with Beckwith-Wiedemann syndrome (BWS).
View Article and Find Full Text PDFBridging the Gaps: Multidisciplinary and Dental Strategies for Beckwith-Wiedemann Syndrome Management.
Int J Clin Pediatr Dent
June 2024
Department of Oral Medicine and Radiology, Mahatma Gandhi Dental College and Hospital, Jaipur, Rajasthan, India.
Article Synopsis
- - Beckwith-Wiedemann syndrome (BWS) is a genetic disorder caused by disrupted genomic imprinting, leading to issues with fetal growth, typically diagnosed in newborns or young children with features like large size, enlarged tongue, and abdominal defects.
- - A case study discusses a 2-year-old girl with BWS, highlighting her struggles with a large tongue and swallowing, while also covering the various impacts of the syndrome on systemic health and oral health.
- - Early diagnosis of BWS is crucial for preventing complications, and dentists play a key role by advising on oral care and collaborating with other health professionals to manage related issues, ensuring a better quality of life for affected individuals.
Low-level mosaic GCK mutations in children with diazoxide-unresponsive congenital hyperinsulinism.
J Clin Endocrinol Metab
October 2024
Division of Endocrinology and Diabetes, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
Article Synopsis
- - The study investigates children with congenital hyperinsulinism (HI) who do not respond to diazoxide and lack detectable mutations in their blood, focusing on potential hidden genetic changes in pancreatic tissue.
- - Through next-generation sequencing on pancreatic specimens from 10 children, four unique GCK mutations were found at low levels, indicating that these mutations may be responsible for their HI, despite not being detectable in their blood samples.
- - The findings suggest that post-zygotic somatic mutations in the GCK gene contribute to certain cases of non-focal diazoxide-unresponsive hyperinsulinism, shedding light on the complexity of genetic causes in this condition.
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