Publications by authors named "M A Caligo"
Background: Brown tumors are rare bone manifestations of primary hyperparathyroidism (PHPT) that may occur at different sites either as single or multiple lesions and they can easily be mistaken for malignant lesions. Neither bone site nor morphological or functional imaging are useful to drive the differential diagnosis and biopsy is often the only conclusive procedure.
Case Description: We report the case of a 53 years-old man referred to our outpatient clinic for severe symptomatic PHPT complicated by nephrolithiasis and osteoporosis.
Article Synopsis
- This study examines how the TAS2R38 gene, linked to bitter taste perception, affects nasal nitric oxide (nNO) levels and respiratory infections in patients with primary ciliary dyskinesia (PCD).
- Researchers tracked 119 PCD patients over 10 years, comparing different TAS2R38 haplotypes and their correlation with nNO and lung function outcomes.
- Findings indicate that the PAV/PAV haplotype leads to higher nNO levels and better lung function in those with certain PCD mutations, suggesting TAS2R38 may influence the severity of mild PCD and guide future treatment strategies.
, a crucial tumor suppressor gene, has several splicing isoforms, including Δ9-11, Δ11, and Δ11q, which lack exon 11, coding for significant portions of the protein. These isoforms are naturally present in both normal and cancerous cells, exhibiting altered activity compared to the full-length BRCA1. Despite this, the impact on cancer risk of the germline intronic variants promoting the exclusive expression of these Δ11 isoforms remains uncertain.
View Article and Find Full Text PDFBackground: Nineteen genomic regions have been associated with high-grade serous ovarian cancer (HGSOC). We used data from the Ovarian Cancer Association Consortium (OCAC), Consortium of Investigators of Modifiers of (CIMBA), UK Biobank (UKBB), and FinnGen to identify novel HGSOC susceptibility loci and develop polygenic scores (PGS).
Methods: We analyzed >22 million variants for 398,238 women.
Purpose: The screening test to suspect infantile hypercalcemia-1 (HCINF1) is the measure of 25(OH)D/24,25(OH)D ratio at mass spectroscopy (MS). When the ratio is > 80, the gold standard for the diagnosis is genetic analysis. Given its limited availability, MS may not represent a screening test and most cases of HCINF1 remain undiagnosed.
View Article and Find Full Text PDF