Publications by authors named "G Del Sindaco"
Article Synopsis
- - X-linked acrogigantism (X-LAG) is a serious genetic condition caused by duplications on chromosome X that affect the GPR101 gene, leading to excessive growth due to misexpression of this gene in the pituitary gland.
- - The researchers used advanced genomic techniques, specifically 4C/HiC-seq, to examine the impact of GPR101 duplications on the functional structure of the genome in families with these duplications, finding that some did not create harmful changes.
- - The study emphasizes the significance of chromatin interactions and boundaries in understanding genetic disorders and demonstrates the utility of 4C/HiC-seq in genetic counseling and clinical decision-making for suspected TADopathies.
Article Synopsis
- Pseudohypoparathyroidism (PHP) is a rare hereditary disorder resulting in hormone resistance, with the study focusing on hypercalcitoninemia in affected patients.
- A retrospective analysis was conducted on 88 children and 43 adults from European endocrinology centers, revealing high rates of hypercalcitoninemia (65.9% in children, 53.5% in adults) with stable calcitonin levels over time and no correlation with parathormone levels.
- The study highlights that hypercalcitoninemia is frequently seen in PHP/iPPSD patients, particularly in specific subtypes, and suggests these patients have a distinctive response to calcium stimulation tests compared to healthy individuals and those with medullary thyroid
Introduction: The dysregulation of cell fate toward osteoprecursor cells associated with most -based disorders may lead to episodic extraskeletal or ectopic bone formation in subcutaneous tissues. The bony lesion distribution suggests the involvement of abnormal differentiation of mesenchymal stem cells (MSCs) and/or more committed precursor cells. Data from transgenic mice support the concept that is a crucial factor in regulating lineage switching between osteoblasts (OBs) and adipocyte fates.
View Article and Find Full Text PDFSpinal cord stimulation (SCS) is a treatment for chronic intractable pain powered by an implantable pulse generator that may be rechargeable or not rechargeable (NR). It is performed in 2 stages (a trialing phase followed by permanent device implantation) and necessitates 2 hospitalizations, which may increase infection risk. This analysis explores the cost impact of improvements in battery longevity and the adoption of 1-step (direct-to-implant [DTI]) SCS implantation.
View Article and Find Full Text PDFRecurrence in acromegaly: two tertiary centers experience and review of the literature.
J Endocrinol Invest
September 2024
Background: Recurrence of acromegaly after successful surgery is a rare event, but no clear data are reported in the literature about its recurrence rates. This study aimed to evaluate the recurrence rate in a series of acromegalic patients treated by transsphenoidal surgery (TSS) with a long follow-up.
Methods: We retrospectively analyzed data from 283 acromegalic patients who underwent TSS at two pituitary units in Milan (Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico and IRCCS Humanitas Research Hospital).