Alu-Mediated Duplication and Deletion of Exon 11 Are Frequent Mechanisms of Inactivation, Predisposing Individuals to Hereditary Breast-Ovarian Cancer Syndrome.

Background/objective: Large genomic rearrangements of gene, particularly deletions and duplications, have been linked to hereditary breast-ovarian cancer. Our research specifically focuses on delineating the intronic breakpoints associated with rearrangements of exon 11, which is crucial for understanding the mechanisms underlying these genomic changes in patients with hereditary breast and ovarian syndrome.

Methods: By using next-generation sequencing, we identified one duplication and three deletions of exon 11, confirmed by Multiplex Ligation-Dependent Probe Amplification analysis.

Schwann cell C5aR1 co-opts inflammasome NLRP1 to sustain pain in a mouse model of endometriosis.

Over 60% of women with endometriosis experience abdominopelvic pain and broader pain manifestations, including chronic back pain, fibromyalgia, chronic fatigue, vulvodynia, and migraine. Although the imbalance of proinflammatory mediators, including the complement component C5a, is associated with endometriosis-related pain, the mechanisms causing widespread pain and the C5a role remain unclear. Female mice and women with endometriosis exhibit increased plasma C5a levels and pain.

Typical NF2 and LTZR1 mutations are retained in an immortalized human schwann cell model of schwannomatosis.

Human SCs play a primary role in SWN, a rare genetic disorder in which patients develop multiple schwannomas. So that, their isolation and immortalization could represent an irreplaceable tool to investigate the disease etiopathology. Although few clones of tumoural SCs have been obtained, unfortunately they present genetic, morphological and biological characteristics that do not fully represent the original cells.

Endothelial Mechanistic Target of Rapamycin Activation with Different Strains of : Possible Role in Rickettsial Pathogenesis.

is an obligate intracellular pathogen that primarily targets endothelial cells (ECs), leading to vascular inflammation and dysfunction. Mechanistic target of rapamycin (mTOR) regulates several cellular processes that directly affect host immune responses to bacterial pathogens. Here, we infected ECs with two strains, avirulent (Iowa) and highly virulent Sheila Smith (SS) to identify differences in the kinetics and/or intensity of mTOR activation to establish a correlation between mTOR response and bacterial virulence.

Disease control of acromegaly does not prevent excess mortality in the long term: results of a nationwide survey in Italy.

Objective: This study aimed to assess the long-term outcome of patients with acromegaly.

Design: This is a multicenter, retrospective, observational study which extends the mean observation period of a previously reported cohort of Italian patients with acromegaly to 15 years of follow-up.

Methods: Only patients from the centers that provided information on the life status of at least 95% of their original cohorts were included.