Publications by authors named "Maria-Luisa Brandi"

Active acromegaly may lead to irreversible complications. Among them, acromegaly osteopathy and fragility (vertebral and hip) fractures have emerged as frequent and precocious events in the natural history of the disease, being correlated with longer disease duration and higher growth hormone (GH) levels, accounting for patients' reported poor quality of life, physical performance and other life-impacting complications. Differently from primary osteoporosis, bone mineral density is not a reliable tool to predict fracture risk in this clinical setting, as patients with active disease frequently have normal or slightly reduced bone mass; whereas bone quality is particularly compromised, as determined by low trabecular bone score (TBS) in patients with active disease as compared to healthy controls or patients with cured/controlled disease.

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  • Atypical parathyroid tumors (aPT) and parathyroid carcinoma (PC) are very rare types of tumors in the parathyroid glands, making up less than 2% of all such tumors.
  • The study looked at patients with aPT and PC to see how they compare in terms of medical features and problems.
  • Both types showed similar symptoms, but PCs had more kidney issues and a higher chance of the disease coming back after surgery, leading to plans for better tracking and study of these tumors in Italy and Europe.
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Unlabelled: We conducted a review of 10 national guidelines from five EU countries to identify similarities or differences in recommendations for the management of patients with osteoporosis. We found general alignment of key recommendations; however, there are notable differences, largely attributed to country-specific approaches to risk assessment and reimbursement conditions.

Introduction: The classification of fracture risk is critical for informing treatment decisions for post-menopausal osteoporosis.

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  • Bone forming agents are important treatments for people with osteoporosis who have a very high risk of getting fractures.
  • Doctors need to identify the right patients who will benefit the most from these treatments, especially those with severe osteoporosis or recent fractures.
  • Using these agents can help strengthen bones and reduce fracture risk, and after treatment, patients should switch to other therapies to keep their bones strong.
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Introduction: Pregnancy and lactation-associated osteoporosis (PLO) is a rare condition characterized by fragility fractures occurring during late pregnancy or lactation, primarily affecting the spine and causing significant morbidity and back pain. PLO can lead to mobility impairment and work incapacity, with recovery taking up to several years. Due to the lack of clinical trials, treatment strategies remain poorly defined, historically focusing on calcium supplements, vitamin D, and weaning from breastfeeding.

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We report a case of a patient with a germline heterozygous truncating variant of gene (c.2172del, p.Tyr724Ter) causing neurodevelopmental disorder with spastic diplegia and visual defects syndrome (NEDSDV) associated with a new clinical feature - severe pediatric-onset osteoporosis and multiple fractures.

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Radiofrequency Echographic Multi Spectrometry (REMS) is a radiation-free, portable technology, which can be used for the assessment and monitoring of osteoporosis at the lumbar spine and femoral neck and may facilitate wider access to axial BMD measurement compared with standard dual-energy x-ray absorptiometry (DXA).There is a growing literature demonstrating a strong correlation between DXA and REMS measures of BMD and further work supporting 5-year prediction of fracture using the REMS Fragility Score, which provides a measure of bone quality (in addition to the quantitative measure of BMD).The non-ionising radiation emitted by REMS allows it to be used in previously underserved populations including pregnant women and children and may facilitate more frequent measurement of BMD.

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  • - Multiple endocrine neoplasia type 1 (MEN1) is a rare genetic syndrome linked to mutations in the MEN1 tumor suppressor gene, primarily showing as primary hyperparathyroidism, neuroendocrine tumors in the pancreas, and pituitary tumors.
  • - Unlike sporadic tumors, MEN1 tumors tend to be diagnosed at a younger age and present in multiple forms, requiring care from a multidisciplinary team that includes various medical specialists.
  • - Diet plays a critical role in managing MEN1, with emphasis on adequate intake of calcium, vitamin D, and other nutrients to prevent complications like osteoporosis and kidney stones, while addressing potential digestive issues following pancreatic surgery through personalized dietary planning.
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Few studies have evaluated the association between circulating levels of 25-hydroxyvitamin D (25(OH)D), 1,25-dihydroxyvitamin D (1,25(OH)D), and the endocrine disruptor bisphenol A (BPA), with risk of cardiovascular (CV) disease in elderly individuals. This was a cross-sectional study in a subgroup of elderly people from the InCHIANTI Biobank in Italy. We examined the association between circulating serum vitamin D metabolites, 1,25(OH)D, 25(OH)D, and the endocrine disrupting agent BPA, with an arbitrary CV risk score and the European Society of Cardiology-based 10-year CV risk (SCORE2/SCORE2-OP) using univariate and multiple regression.

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Unlabelled: An artificial intelligence-based case-finding strategy has been developed to systematically identify individuals with osteoporosis or at varying risk of fragility fracture. This strategy has the potential to close the critical care gap in osteoporosis treatment in primary care, thereby lessening the societal burden imposed by fragility fractures.

Background: Osteoporotic fractures represent a major cause of morbidity and, in older adults, a precursor of disability, loss of independence, poor quality of life and premature death.

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Familial adenomatous polyposis (FAP) is a rare disease characterized by the development of adenomatous polyps in the colon and rectum already in adolescence. If left untreated, patients develop colorectal cancer (CRC) with a 100% probability. To date, the gold standard of FAP management is surgery, which is associated with morbidity and mortality.

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  • - X-linked hypophosphatemia (XLH) is a rare disorder caused by high levels of FGF23, leading to phosphate loss and decreased vitamin D production, while burosumab is a treatment that helps restore phosphate levels by inhibiting FGF23.
  • - This post-authorization safety study (PASS) monitors the long-term safety of burosumab in children and adolescents aged 1-17 years, with this first interim analysis focusing on the initial safety outcomes based on registry data.
  • - The analysis involved 67 participants, with 37.3% reporting at least one adverse event, primarily musculoskeletal issues; however, there were no serious adverse events or treatment withdrawals, indicating that the safety profile of
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The 6th International Conference, "Controversies in Vitamin D," was convened to discuss controversial topics, such as vitamin D metabolism, assessment, actions, and supplementation. Novel insights into vitamin D mechanisms of action suggest links with conditions that do not depend only on reduced solar exposure or diet intake and that can be detected with distinctive noncanonical vitamin D metabolites. Optimal 25-hydroxyvitamin D (25(OH)D) levels remain debated.

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Menopause, an extremely delicate phase in a woman's life, is characterized by a drop in estrogen levels. This decrease has been associated with the onset of several diseases, including postmenopausal osteoporosis and sarcopenia, which often coexist in the same person, leading to an increased risk of fractures, morbidity, and mortality. To date, there are no approved pharmacological treatments for sarcopenia, while not all of those approved for postmenopausal osteoporosis are beneficial to muscles.

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Background: Subjects with a fragility fracture have an increased risk of a new fracture and should receive effective strategies to prevent new events. The medium-term to long-term strategy should be scheduled by considering the mechanisms of action in therapy and the estimated fracture risk.

Objective: A systematic review was conducted to evaluate the sequential strategy in patients with or at risk of a fragility fracture in the context of the development of the Italian Guidelines.

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  • * Sarcopenia (muscle loss) and osteoporosis (bone loss) are closely linked, with each condition serving as a predictor for the other, indicating the need for integrated research approaches.
  • * A recent workshop emphasized the importance of muscle characterization in musculoskeletal studies, advocating for more recognition and research on muscle phenotyping in both human and animal models like zebrafish and mice.
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  • * Most cases occur sporadically, but about 10% are linked to inherited conditions like multiple endocrine neoplasia type 1 (MEN1), neurofibromatosis type 1 (NF1), and tuberous sclerosis complex (TSC), resulting from mutations in tumor-suppressor genes.
  • * The text reviews the main epidemiological and clinical features of these tumors, particularly in relation to genetic syndromes.
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Background: Throughout the pregnancy, there is a substantial transfer of calcium from the maternal skeleton to the fetus, which leads to a transient net reduction of the maternal bone mineral density.

Aims: To assess longitudinally the changes in the bone mineral density at the femoral neck between the first and third trimester of pregnancy in a cohort of healthy participants using Radiofrequency Echographic Multi Spectrometry (REMS) technology.

Methods: Prospective, cohort study conducted at the University hospital of Parma, Italy between July 2022 and February 2023.

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There is no universally accepted definition for rare diseases: in Europe a disease is considered to be rare when affecting fewer than 1 in 2000 people. European Reference Networks (ERNs) have been the concrete response to address the unmet needs of rare disease patients and many pan-European issues in the field, reducing inequities, and significantly increasing accessibility to high-quality healthcare across Europe. ERNs are virtual networks, involving centres and patient representatives with the general scope to facilitate discussion on complex cases requiring highly specialised competences and trained expertise.

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Serum phosphate concentration is regulated by renal phosphate reabsorption and mediated by sodium-phosphate cotransporters. Germline mutations in genes encoding these cotransporters have been associated with clinical phenotypes, variably characterized by hyperphosphaturia, hypophosphatemia, recurrent kidney stones, skeletal demineralization, and early onset osteoporosis. We reported a 33-year-old male patient presenting a history of recurrent nephrolithiasis and early onset osteopenia in the lumbar spine and femur.

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Introduction: Paget's disease of bone (PDB) frequently presents at an advanced stage with irreversible skeletal damage. Clinical outcomes might be improved by earlier diagnosis and prophylactic treatment.

Methods: We randomised 222 individuals at increased risk of PDB because of pathogenic variants to receive 5 mg zoledronic acid (ZA) or placebo.

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  • * Different antidiabetic medications may have varying effects on bone health, with metformin and GLP-1 receptor agonists potentially reducing fracture risk, while insulin and thiazolidinediones might increase it.
  • * There is currently a lack of clinical guidelines that consider fracture risk when prescribing antidiabetic drugs, indicating a need for a more personalized approach to diabetes management, especially for patients with kidney issues.
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