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The enhancer RNA, AANCR, regulates APOE expression in astrocytes and microglia.
Nucleic Acids Res
September 2024
Department of Pediatrics, University of Michigan, Ann Arbor, MI 48109, USA.
Article Synopsis
- Enhancers are key regulatory elements in our DNA that can produce enhancer RNAs (eRNAs), and their malfunction can lead to diseases known as enhanceropathies, which need more research to understand specific mechanisms.
- This study focuses on AANCR, a noncoding RNA related to the APOE gene in Alzheimer's Disease, showing that it plays a vital role in regulating APOE expression and influencing inflammation in brain cells called astrocytes.
- By identifying how AANCR is activated and its effects, the research suggests it could be a valuable target for developing treatments for neurodegenerative diseases.
Dermoscopy and Confocal Microscopy Findings of Basal Cell Carcinomas in Xeroderma Pigmentosum Patients.
Indian J Dermatol
June 2024
From the Department of Dermatology, Ege University, Faculty of Medicine, İzmir, Turkey.
Article Synopsis
- Xeroderma pigmentosum (XP) is a rare genetic disorder that significantly increases the risk of skin cancer, particularly basal cell carcinomas (BCCs), yet there is limited research on its dermoscopic and confocal microscopy findings.
- A study analyzed dermoscopic features of 32 BCCs in XP patients, finding that most tumors were pigmented and displayed specific patterns, such as grey-blue globules and various vascular structures.
- Reflectance confocal microscopy (RCM) proved helpful in distinguishing pigmented BCCs from other skin tumors like melanoma, suggesting its utility alongside dermoscopy for early diagnosis in XP patients.
Abiraterone, Olaparib, or Abiraterone + Olaparib in First-Line Metastatic Castration-Resistant Prostate Cancer with DNA Repair Defects (BRCAAway).
Clin Cancer Res
October 2024
Masonic Cancer Center, University of Minnesota, Minneapolis, Minnesota.
Purpose: Deleterious germline/somatic homologous recombination repair mutations (HRRm) are present in ∼25% of patients with metastatic castration-resistant prostate cancer (mCRPC). Preclinically, poly(ADP-ribose) polymerase (PARP) inhibition demonstrated synergism with androgen receptor pathway (ARP)-targeted therapy. This trial evaluated the efficacy of ARP inhibitor versus PARP inhibitor versus their combination as first-line therapy in patients with mCRPC with HRRms.
View Article and Find Full Text PDFRacial variability in immune responses only partially explains differential systemic sclerosis disease severity.
Ann Rheum Dis
October 2024
Division of Rheumatology, The Johns Hopkins University School of Medicine, Baltimore, Maryland, USA
Article Synopsis
- - The study aimed to explore whether differences in autoantibodies among self-identified black and white systemic sclerosis (SSc) patients contributed to racial variations in disease severity, analyzing 803 black and 2,178 white patients.
- - Results indicated that specific autoantibodies were more prevalent in black patients, who also experienced more severe symptoms, particularly in areas like lung, skin, and renal disease, while white patients had more heart and muscle issues.
- - The findings suggest that although autoantibodies play a role in disease outcomes, they only partially explain the racial disparities observed, implying that other factors must also be considered in understanding these differences.
Giant Morpheaform Basal Cell Carcinoma Mimicking Scarring Alopecia: Exception Prone to Neglect.
Dermatopathology (Basel)
June 2024
Dermatologic Clinic, Fondazione IRCCS Policlinico San Matteo, 27100 Pavia, Italy.
A 74-year-old woman in good general health presented with a 5-year history of progressive hair loss over several years, interpreted as female androgenetic alopecia (AGA), and was treated with topical 5% Minoxidil without improvement. The patient's relevant medical history revealed infiltrating, triple-negative apocrine carcinoma of the right breast four years before, treated by quadrantectomy, radiation, lymphadenectomy and chemotherapy, with no recurrence at the last follow-up. On examination, there was an asymptomatic 15 × 15 cm firm and whitish area of scarring alopecia on the central scalp.
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