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ZIC1 is a context-dependent medulloblastoma driver in the rhombic lip.
Nat Genet
January 2025
Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Ontario, Canada.
Transcription factors are frequent cancer driver genes, exhibiting noted specificity based on the precise cell of origin. We demonstrate that ZIC1 exhibits loss-of-function (LOF) somatic events in group 4 (G4) medulloblastoma through recurrent point mutations, subchromosomal deletions and mono-allelic epigenetic repression (60% of G4 medulloblastoma). In contrast, highly similar SHH medulloblastoma exhibits distinct and diametrically opposed gain-of-function mutations and copy number gains (20% of SHH medulloblastoma).
View Article and Find Full Text PDFDiverse Colonisation and Disease Associations of the Human Commensal Malassezia: Our Body's Secret Tenant.
Mycoses
January 2025
Cell Biology and Molecular Genetics, Yenepoya Research Centre, Yenepoya (Deemed to Be University), Mangalore, India.
A niche in the context of microorganisms defines the specific ecological role or habitat inhabited by microbial species within an ecosystem. For the human commensal Malassezia, the skin surface is considered its primary niche, where it adapts to the skin environment by utilising lipids as its main carbon and energy source. However pathogenic characteristics of Malassezia include the production of allergens, immune modulation and excessive lipid utilisation, which result in several diseases such as pityriasis versicolor, seborrheic dermatitis, Malassezia folliculitis and atopic dermatitis.
View Article and Find Full Text PDFPalinopsia associated with the CDK4/6 inhibitor ribociclib during the first-line treatment of metastatic breast cancer: two case reports.
Front Oncol
December 2024
Hospital del Mar, Parc de Salut Mar, Barcelona, Spain.
The most frequently used standard treatment for hormone receptor (HR)-positive, human epidermal growth factor receptor 2 (HER2)-negative metastatic breast cancer patients consists of a CDK4/6 inhibitor (abemaciclib, ribociclib, or palbociclib) combined with endocrine therapy. Despite CDK4/6 inhibitors being part of routine care in the last few years, new adverse events continue to be reported. Here, we report two cases of palinopsia, a rare neurological visual disturbance that refers to the persistence or recurrence of a visual image after the removal of visual stimuli in patients treated with ribociclib and letrozole.
View Article and Find Full Text PDFEfficacy and safety of wet cupping in the treatment of neurodermatitis: a systematic review and meta-analysis.
Front Med (Lausanne)
December 2024
School of Acupuncture-Moxibustion and Tuina, Chengdu University of Traditional Chinese Medicine, Chengdu, China.
Background: Neurodermatitis is a chronic skin condition characterized by intense itching and skin thickening due to neurological dysfunction. Its persistent nature poses a challenge to effective treatment, significantly impacting patients' quality of life. Wet cupping therapy is increasingly being used in clinics to manage neurodermatitis, so it is imperative to assess the evidence regarding its effectiveness and safety.
View Article and Find Full Text PDFBaricitinib Treatment in RNU7-1-Associated Aicardi-Goutières Syndrome in a South African Child: A Case Report.
Am J Med Genet A
January 2025
Department of Paediatrics and Child Health, University of Cape Town, Cape Town, South Africa.
Aicardi-Goutières syndrome (AGS) is a rare monogenic type I interferonopathy. Janus kinase (JAK) inhibition has emerged as a potential treatment for AGS. RNU7-1 is one of the most recently discovered genes for AGS, and the clinical effects of JAK inhibition in these patients have not been reported.
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