Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6002376 | PMC |
| http://dx.doi.org/10.1038/s41408-018-0090-7 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Life-threatening Lymphatic Malformation With Somatic Activating NRAS Mutation Successfully Treated With Trametinib: A Case Study.
J Pediatr Hematol Oncol
January 2025
Cook Children's Medical Center, Fort Worth, TX.
Kaposiform lymphangiomatosis (KLA) is a rare and aggressive subtype of complex lymphatic anomalies (CLA), characterized by abnormal lymphatic proliferation leading to distinct clinical manifestations. Despite the complexity of this condition, there is no established standard therapy, and treatment options such as sclerotherapy, laser therapy, and surgery remain variably effective and are limited to symptom management rather than curative. Sirolimus, an mTOR pathway inhibitor, has shown promise as a primary therapy, particularly in patients without a driver mutation.
View Article and Find Full Text PDFALG8-CDG: Advances in Molecular and Prenatal Phenotyping Facilitate Prenatal Diagnosis and Genetic Counseling.
QJM
January 2025
Medical Genetic Center, Guangdong Women and Children Hospital, Guangzhou, Guangdong, 510010, China.
Background: ALG8-congenital disorder of glycosylation (ALG8-CDG) is a rare inherited metabolic disorder leading to severe multisystem manifestations, with no reported prenatal patients to date.
Methods: We describe two fetuses from a single family with ALG8-CDG presenting with prenatal hydrops, undergoing comprehensive prenatal ultrasound, umbilical cord blood biochemistry, autopsy, placental pathology, and genetic testing.
Results: Prenatal ultrasound revealed fetal hydrops, skeletal anomalies, cardiac developmental abnormalities, cataracts, echogenic kidneys and bowel, oligohydramnios, choroid plexus cysts, and intrauterine growth restriction.
Genetic variations and clinical significance in young-onset nasopharyngeal cancer: Analysis of EBV interaction with cellular receptor variants and viral glycoproteins.
Heliyon
January 2025
Faculty of Medicine, University of Surabaya, Surabaya, 60292, Indonesia.
Nasopharyngeal cancer (NPC), although rare in young individuals worldwide, is significantly influenced by the Epstein-Barr virus (EBV). Considering EBV's widespread prevalence, understanding its role in NPC's future occurrence, disease progression, clinical symptoms, metastatic tendencies, and prognosis is crucial. In this study, we extensively analyzed two young patients with NPC, who displayed distinct clinical features.
View Article and Find Full Text PDFDurable disease regression with copanlisib treatment in PI3K-mutated metastasizing ameloblastoma: A case report.
Rare Tumors
January 2025
Department of Medicine, Northwestern University Feinberg School of Medicine, Chicago, USA.
Ameloblastoma is a rare tumor arising from odontogenic cells that is benign, yet locally aggressive. Metastasizing ameloblastoma (METAM) is an ultra-rare ameloblastoma variant in which both primary and secondary tumors have histological features of benign ameloblastoma. This is a case report of a patient who presented with a jaw mass and subsequent lung metastases, later diagnosed as METAM.
View Article and Find Full Text PDFAtypical Presentation of Andersen-Tawil Syndrome: Heart Failure with Reduced Ejection without Periodic Paralysis or Dysmorphic Features.
Eur J Case Rep Intern Med
December 2024
Internal Medicine, Holy Family Hospital, Rawalpindi, Pakistan.
Background: Andersen-Tawil syndrome (ATS) is a rare autosomal dominant disorder caused by variants in the gene. It is associated with periodic paralysis, dysmorphic features and cardiac arrhythmias. The syndrome exhibits incomplete penetrance, leading to a broad spectrum of clinical manifestations, making diagnosis challenging.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!