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Frontal lobe intra-axial schwannoma harboring a CHD7::VGLL3 fusion and heterozygous TSC2 p.F1510del mutation in a young child.
Mol Biol Rep
January 2025
Department of Pathology and Laboratory Medicine, Baylor Scott and White Medical Center, Baylor College of Medicine, Temple, TX, USA.
Background: Brain intraparenchymal schwannoma is a rare clinical entity, generally curable with adequate resection.
Methods And Results: We describe a case in a male patient first presenting at 19 months of age, the youngest reported age for this lesion. It also appears to be the first case connected to a germline TSC2 p.
Acute Promyelocytic Leukemia-like AML: Genetic Perspective and Clinical Implications.
Cancers (Basel)
December 2024
Department of Biomedicine and Prevention, University of Rome Tor Vergata, 00133 Rome, Italy.
Acute promyelocytic leukemia (APL) is a rare type of AML, characterized by the t(15;17) translocation and accounting for 8-15% of cases. The introduction of target therapies, such as all-trans retinoic acid (ATRA) and arsenic trioxide (ATO), radically changed the management of APL, making it the most curable AML subtype. However, a small percentage (estimated to be 2%) of AML presenting with APL-like morphology and/or immunophenotype lacks t(15;17).
View Article and Find Full Text PDFSyphilitic Hepatitis: An Uncommon Manifestation of Secondary Syphilis.
Cureus
November 2024
Department of Medicine, David Geffen School of Medicine, University of California, Los Angeles (UCLA) Health, Los Angeles, USA.
Syphilitic hepatitis is a rare manifestation of a sexually transmitted infection. Given its nonspecific presentation, it is important for clinicians to consider the diagnosis in sexually active patients presenting with elevated liver tests. In this case, a 30-year-old man presented with an itchy rash and was diagnosed with an allergic reaction.
View Article and Find Full Text PDFMethaemoglobinaemia in neonates with acute gastroenteritis: lethal, but curable.
BMJ Case Rep
December 2024
Neonatology, Sri Ramachandra Institute of Higher Education and Research, Chennai, Tamilnadu, India.
Article Synopsis
- Methaemoglobinaemia is a rare condition that can cause cyanosis, often linked to anaesthetic agents, but this case series highlights three instances related to acute gastroenteritis from formula feeds in newborns.
- The infants presented with symptoms of hypoxia, metabolic acidosis, and diarrhea, which can complicate the usual diagnosis, emphasizing the need for awareness of this condition.
- Rapid identification and treatment with methylene blue and fluid therapy were crucial, leading to successful recovery and discharge on exclusive breast feeds.
Oligo-Recurrence in Lung Cancer; The Most Curable State Among Advanced Disease?
Cancers (Basel)
December 2024
Department of Thoracic Surgery, Tokyo Medical University, Tokyo 160-0023, Japan.
Despite the introduction of effective systemic therapies and advancements in precision medicine, recurrence or progression remains common in advanced non-small cell lung cancer (NSCLC). For a subset of patients with more localized metastatic disease-referred to as oligometastases and oligo-recurrence-emerging evidence suggests that a multimodal approach combining systemic therapy with local ablative therapies (LATs) may offer curative potential. Oligo-recurrence is defined by the presence of a limited number of metastases and recurrences in patients with controlled primary lesions.
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