Publications by authors named "Francesca Giusti"

Article Synopsis
  • 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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Article Synopsis
  • - 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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Article Synopsis
  • * 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: Osteoporosis in males is largely under-diagnosed and under-treated, with most of the diagnosis confirmed only after an osteoporotic fracture. Therefore, there is an urgent need for highly accurate and precise technologies capable of identifying osteoporosis earlier, thereby avoiding complications from fragility fractures.

Aims: This study aimed to evaluate the diagnostic accuracy and precision of the non-ionizing technology Radiofrequency Echographic Multi Spectrometry (REMS) for the diagnosis of osteoporosis in a male population in comparison with conventional Dual-energy X-ray Absorptiometry (DXA).

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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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Article Synopsis
  • Hypophosphatasia (HPP) is a rare metabolic disorder caused by low activity of the alkaline phosphatase enzyme, linked to mutations in the ALPL gene, and can present in various forms from severe neonatal cases to mild adult manifestations.
  • Diagnosing HPP in adults is challenging due to mild and non-specific symptoms, leading to underdiagnosis or misdiagnosis, especially among clinicians unfamiliar with the condition.
  • The HPP International Working Group analyzed existing studies to identify effective diagnostic criteria, ultimately proposing four major and five minor criteria for diagnosing HPP in adults, advocating for a combined approach in diagnosis.
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Pancreatic neuroendocrine neoplasms (PNENs) affect over 80% of patients with multiple endocrine neoplasia type 1 (MEN1). Surgery is usually the therapy of choice, but the real immediate and long-term therapeutic benefit of a partial extensive pancreatic resection remains controversial. We analyzed, in 43 PNEN MEN1 patients who underwent 19 pancreaticoduodenectomies (PD), 19 distal pancreatectomies (DP), and 5 minimal pancreatectomies, the prevalence of surgery-derived early complications and post-operative pancreatic sequelae, and the PNEN relapse-free survival time after surgery, comparing major (PD+DP) and minimal pancreatic surgeries.

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Due to its essential role in calcium and phosphate homeostasis, the secosteroid hormone calcitriol has received growing attention over the last few years. Calcitriol, like other steroid hormones, may function through both genomic and non-genomic mechanisms. In the traditional function, the interaction between the biologically active form of vitamin D and the vitamin D receptor (VDR) affects the transcription of thousands of genes by binding to repeated sequences present in their promoter region, named vitamin D-responsive elements (VDREs).

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Placing quantum materials into optical cavities provides a unique platform for controlling quantum cooperative properties of matter, by both weak and strong light-matter coupling. Here we report experimental evidence of reversible cavity control of a metal-to-insulator phase transition in a correlated solid-state material. We embed the charge density wave material 1T-TaS into cryogenic tunable terahertz cavities and show that a switch between conductive and insulating behaviours, associated with a large change in the sample temperature, is obtained by mechanically tuning the distance between the cavity mirrors and their alignment.

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In organic bulk heterojunction materials, charge delocalization has been proposed to play a vital role in the generation of free carriers by effectively reducing the Coulomb attraction via an interfacial charge transfer exciton (CTX). Pump-push-probe (PPP) experiments produced evidence that the excess energy given by a push pulse enhances delocalization, thereby increasing photocurrent. However, previous studies have employed near-infrared push pulses in the range ∼0.

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Vitamin D deficiency is a constantly growing health problem worldwide. Adults affected with hypovitaminosis D could experience negative consequences on their musculoskeletal system and extra-skeletal health. In fact, an optimal vitamin D status is essential to ensure the correct bone, calcium, and phosphate homeostasis.

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Parathyroid carcinoma (PC) is an extremely rare malignant tumor of the parathyroid glands, accounting for less than 1% of primary hyperparathyroidism, commonly characterized by severe and unmanageable hypercalcemia, aggressive behavior, high metastatic potential, and poor prognosis. PC manifests prevalently as a sporadic tumor and only occasionally it is part of congenital syndromic and non-syndromic endocrine diseases. Molecular pathogenesis of this form of parathyroid tumor is not fully elucidated and it appears to be caused by multiple genetic and epigenetic drivers, differing among affected patients and not yet clearly stated in distinguishing PC from the benign parathyroid adenoma (PA).

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Osteoporosis is characterized by the alteration of bone homeostasis due to an imbalance between osteoclastic bone resorption and osteoblastic bone formation. Estrogen deficiency causes bone loss and postmenopausal osteoporosis, the pathogenesis of which also involves oxidative stress, inflammatory processes, and the dysregulation of the expression of microRNAs (miRNAs) that control gene expression at post-transcriptional levels. Oxidative stress, due to an increase in reactive oxygen species (ROS), proinflammatory mediators and altered levels of miRNAs enhance osteoclastogenesis and reduce osteoblastogenesis through mechanisms involving the activation of MAPK and transcription factors.

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Objective: Atypical femur fractures (AFFs) are rare fragility fractures originating at the lateral cortex of the femur, affecting the subtrochanteric or diaphyseal area of thebone with a transverse morphology. Occurrence of AFF is specifically associated with a small number of rare monogenic congenital metabolic bone disorders, such as hypophosphatasia, and with long-term treatment with antiresorptiondrugs. The exact pathogenesis of these fractures remains poorly understood and, except for cases of diagnosed HPP or other AFF-causing bone diseases, it is not possible to assess which patients are at higher riskof developing AFFs as a consequence of anti-resorption therapy.

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Hematopoietic stem cell transplantation (HSCT) is an established therapeutic strategy for the treatment of malignant (leukemia and lymphoma) and non-malignant (thalassemia, anemia, and immunodeficiency) hematopoietic diseases. Thanks to the improvement in patient care and the development of more tolerable conditioning treatments, which has extended the applicability of therapy to the elderly, a growing number of patients have successfully benefited from HSCT therapy and, more importantly, HSCT transplant-related mortality has consistently reduced in recent years. However, concomitantly to long term patient survival, a growing incidence of late HSCT-related sequelae has been reported, being variably associated with negative effects on quality of life of patients and having a non-negligible impact on healthcare systems.

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Unlabelled: Wnt signaling and its bone tissue-specific inhibitor sclerostin are key regulators of bone homeostasis. The therapeutic potential of anti-sclerostin antibodies (Scl-Abs), for bone mass recovery and fragility fracture prevention in low bone mass phenotypes, has been supported by animal studies. The Scl-Ab romosozumab is currently used for osteoporosis treatment.

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The competition between the electron-hole Coulomb attraction and the 3D dielectric screening dictates the optical properties of layered semiconductors. In low-dimensional materials, the equilibrium dielectric environment can be significantly altered by the ultrafast excitation of photo-carriers, leading to renormalized band gap and exciton binding energies. Recently, black phosphorus emerged as a 2D material with strongly layer-dependent electronic properties.

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Context: Measurement of circulating microRNAs (miRNAs) as potential biomarkers of fragility fracture risk has recently become a subject of investigation.

Objective: Measure by next-generation sequencing (NGS), global miRNA expression in serum samples of osteoporotic subjects vs individuals with normal bone mineral density (BMD).

Design: Samples were collected from patients with different bone phenotypes and/or fragility fractures who did not receive any antiresorptive and/or bone-forming drug at the time of blood collection.

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