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HPLC-MS/MS method for simultaneous analysis of plasma 2-hydroxybuty-rate and 2-hydroxyisobutyrate: Development and clinical significance

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CLINICA CHIMICA ACTA 2025年 565卷 120023页

作者： Campi, Beatrice Vitelli, Valentina saponaro, federica Zucchi, Riccardo Ferrannini, Ele Saba, Alessandro CNR Inst Clin Physiol Via Giuseppe Moruzzi 1 I-56124 Pisa Italy Univ Pisa Dept Surg Med & Mol Pathol & Crit Care Med Via Savi 10 I-56126 Pisa Italy Univ Pisa Ctr Instrument Sharing Lungarno Pacinotti 43-44 I-56126 Pisa Italy

Recent studies have identified relationships between diabetes mellitus and short-chain fatty acids, including 2hydroxybutyrate (2-HB) and 2-hydroxyisobutyrate (2-HiB);2-HB has been associated to the early stages of insulin resistance, while 2-HiB with the risk and progression of complications of Type 1 diabetes. Their metabolism and pathophysiological role in humans are not fully clarified. The possible association between 2-HB and 2-HiB and diabetes mellitus was investigated with a novel mass spectrometry-based assay, capable of discriminating plasma 2-HiB and 2-HB from their HB isomers. Accuracy and precision (RSD%) were always in the range 99-102% and 0.7-3.5%, respectively. The study involved samples from subjects with normal glucose tolerance (NGT) and Type 2 diabetes (T2D), originally included in a multicenter study investigating mechanisms involved in atherothrombosis. NGT subjects exhibited concentrations of 2-HB and 2-HiB of 61 (36) and 3.1 (1.9) mu mol/L, median (interquartile range), respectively, that were significantly lower than those of the T2D patients, whose values were 74 (4.0) and 3.8 (2.9) mu mol/L, respectively. The pattern of association of these molecules with clinical and metabolic variables is partially different: both compounds were directly related to male sex, BMI, HbA1c, and plasma glucose, 2-HiB also with age, systolic blood pressure, and HDL-cholesterol. Furthermore, they correlate with free fatty acids, glycerol, and triglyceride concentrations, but the latter correlation was negative for 2-HB and positive for 2-HiB. Results confirmed the clinical significance of 2-HB and 2-HiB, in differential association with metabolic features of T2D.

关键词： 2-hydroxybutyrate 2-hydroxyisobutyrate HPLC Mass spectrometry

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Swallowing function in patients with spinal muscular atrophy before and after the introduction of new gene-based therapies: what has changed?

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NEUROLOGICAL SCIENCES 2025年第3期46卷 1137-1149页

作者： Ruggiero, Marta Giannotta, Gabriele Pirani, Greta saponaro, federica Oliva, Maria Carmela Ferrante, Camilla Trabacca, Antonio Assoc La Nostra Famiglia IRCCS E Medea Sci Hosp Ne Unit Severe Disabil Dev Age & Young Adults Dev Neu Brindisi Italy Sci Inst IRCCS E Medea Via Don L Monza 20 I-23842 Bosisio Parini LC Italy

objectiveIndividuals diagnosed with Spinal Muscular Atrophy (SMA), particularly those presenting with the most severe phenotypes, have long contended with significant swallowing dysfunction. The recent emergence of efficacious advanced therapy has fundamentally altered the landscape of SMA management. By encompassing both the pre and post gene-based therapy eras within our analysis, we endeavour to elucidate the potential impact of these novel therapeutic interventions on this *** the established methodology outlined by the Joanna Briggs Institute, a scoping review was conducted. This review encompassed relevant literature published up to March 2024. Two electronic databases were searched, with additional studies identified by reviewing reference lists of pertinent articles. The search strategy employed a combination of keywords including "spinal muscular atrophy", "SMA", "swallowing", "feeding", and "nutrition". Articles were initially screened based on title and abstract, followed by a full-text review of eligible studies published in peer-reviewed English language *** initial database search resulted in 462 articles, from which 23 studies were ultimately selected for analysis. Pre gene-based therapy studies revealed swallowing dysfunction as a prominent feature. Patients frequently reported challenges with chewing, choking on solids and liquids, and abnormal tongue movements during eating. Early dysphagia research relied on subjective measures (questionnaires, scales). objective measures like video fluoroscopic (VFSS) were rare. After gene-based therapies (GBTs), VFSS became the dominant, more objective method. Studies investigating the post-gene therapy era suggest potential clinical benefits, with trends towards improvement or stabilization of swallowing *** gene-based therapy studies revealed widespread swallowing dysfunction in SMA. Conversely, the post-treatment era suggests potential improvement. Futu

关键词： Spinal muscular atrophy Swallowing Swallowing assessment Dysphagia Scoping review

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Rare Causes of Hypercalcemia

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ENDOCRINOLOGY AND METABOLISM CLINICS OF NORTH AMERICA 2021年第4期50卷 769-779页

作者： saponaro, federica Univ Pisa Dept Surg Med & Mol Pathol & Crit Care Med Via Roma 55 I-56126 Pisa Italy

This article discusses rare causes of hypercalcemia. Hypercalcemia can rarely be associated with immobilization, genetic diseases in children such as Williams-Beuren syndrome, Hypophosphatasia, Jansen Metaphyseal Chondrodysplasia (JMC), cosmetic injection, milk-alkali syndrome (MAS), calcium sulfate beads administration, manganese intoxication, postacute kidney failure recovery, and Paget’s disease.

关键词： Rare hypercalcemia Hypercalcemia in children Milk-alkali syndrome Immobilization Williams syndrome

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Epidemiology, pathogenesis of primary hyperparathyroidism: Current data

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ANNALES D ENDOCRINOLOGIE 2015年第2期76卷 113-115页

作者： Marcocci, Claudio saponaro, federica Univ Pisa Dept Clin & Expt Med Pisa Italy Univ Hosp Pisa Endocrine Unit 2 Pisa Italy

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Novel thyroid hormones

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ENDOCRINE 2019年第1期66卷 95-104页

作者： Zucchi, Riccardo Rutigliano, Grazia saponaro, federica Univ Pisa Lab Biochem Dept Pathol Via Roma 55 I-56126 Pisa Italy Scuola Super Sant Anna Pisa Italy

The field of thyroid hormone signaling has grown more complex in recent years. In particular, it has been suggested that some thyroid hormone derivatives, tentatively named "novel thyroid hormones" or "active thyroid hormone metabolites", may act as independent chemical messengers. They include 3,5-diiodothyronine (T2), 3-iodothyronamine (T1AM), and several iodothyroacetic acids, i.e., 3,5,3',5'-thyroacetic acid (TA4), 3,5,3'-thyroacetic acid (TA3), and 3-thyroacetic acid (TA1). We summarize the present knowledge on these compounds, namely their biosynthetic pathways, endogenous levels, molecular targets, and the functional effects elicited in experimental preparations or intact animals after exogenous administration. Their physiological and pathophysiological role is discussed, and potential therapeutic applications are outlined. The requirements needed to qualify these substances as chemical messengers must still be validated, although promising evidence has been collected. At present, the best candidate to the role of independent chemical messenger appears to be T1AM, and its most interesting effects concern metabolism and brain function. The responses elicited in experimental animals have suggested potential therapeutic applications. TA3 has an established role in thyroid hormone resistance syndromes, and is under investigation in Allen-Herndon-Dudley syndrome. Other potential targets are represented by obesity and dyslipidemia (for T2 and T1AM);dementia and degenerative brain disease (for T1AM and TA1);cancer (for T1AM and TA4). Another intriguing and unexplored question is the potential relevance of these metabolites in the clinical picture of hypothyroidism and in the response to replacement therapy.

关键词： Thyroid hormones Thyronamines Thyroacetic acids Deiodinases

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Non-surgical management of primary hyperparathyroidism

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BEST PRACTICE & RESEARCH CLINICAL ENDOCRINOLOGY & METABOLISM 2018年第6期32卷 821-835页

作者： Cetani, Filomena saponaro, federica Marcocci, Claudio Univ Pisa Dept Clin & Expt Med Via Paradisa 2 I-56124 Pisa Italy

The purpose of this chapter is to discuss the options available for patients with primary hyperparathyrodism (PHPT) not undergoing parathyroidectomy (PTx). Adequate hydration should be recommended in all patients. Calcium intake should not be restricted and vitamin D deficiency should be corrected aiming at a serum concentration of 25OHD of >20 ng/mL or even higher (>30 ng/mL according to some opinion leaders). Pharmacologic therapy is not an alternative to PTx and could be considered in patients who meet the surgical criteria but unwilling to undergo PTx, as well as in patients with an increased risk of surgery or failed surgery. Targeted therapy includes antiresorptive drugs for skeletal protection and cinacalcet for lowering serum calcium. Combined therapy can be an option when appropriate. Pregnant women should be treated conservatively (hydration) and surgery, if needed, performed in the second trimester of pregnancy. Severe hypercalcemia is a life-threatening condition and requires immediate intensive treatment. (C) 2018 Elsevier Ltd. All rights reserved.

关键词： hypercalcemia parathyroid cancer vitamin D antiresorptive drugs cinacalcet pregnancy

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Tissue thyroid hormones and thyronamines

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HEART FAILURE REVIEWS 2016年第4期21卷 373-390页

作者： Accorroni, Alice saponaro, federica Zucchi, Riccardo Scuola Super Sant Anna Pisa Italy Univ Pisa Dept Pathol Biochem Lab Via Roma 55 I-56126 Pisa Italy

It has been known for a long time that changes in cardiac function are a major component of the clinical presentation of thyroid disease. Increased heart rate and hyperdynamic circulation are hallmarks of hyperthyroidism, while bradycardia and decreased contractility characterize hypothyroidism. Recent findings have provided novel insights in the physiology and pathophysiology of heart regulation by thyroid hormones. In this review, we summarize the present knowledge on thyroxine (T-4) transport and metabolism and on the biochemical pathways leading to genomic and non-genomic effects produced by 3,5,3'-triiodothyronine (T-3) and by its active metabolites, particularly 3,5-diiodothyronine (T-2) and 3-iodothyronamine (T(1)AM). On this basis, specific issues of special interest for cardiology are discussed, namely (1) relevance of the regulation of proteins involved in the control of calcium homeostasis and in pacemaker cell activity, due to non-genomic as well as to classical genomic effects;(2) stimulation of fatty acid oxidation by T-2 and T(1)AM, the latter also causing a negative inotropic and chronotropic action at micromolar concentrations;(3) induction of D3 deiodinase in heart failure, potentially causing selective cardiac hypothyroidism, whose clinical implications are still controversial;and (4) cardioprotective effect of T(1)AM, possibly occurring at physiological concentrations, and relevance of T-3 and of thyroid hormone receptor alpha(1) in post-infarction repair.

关键词： Thyroid hormone 3,5-Diiodothyronine 3-Iodothyronamine Heart failure Ischemia

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Development of an algorithm to predict serum vitamin D levels using a simple questionnaire based on sunlight exposure

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ENDOCRINE 2017年第1期55卷 94-101页

作者： Vignali, Edda Macchia, Enrico Cetani, Filomena Reggiardo, Giorgio Cianferotti, Luisella saponaro, federica Marcocci, Claudio Univ Hosp Pisa Endocrine Unit 2 Pisa Italy Univ Pisa Dept Clin & Expt Med Pisa Italy Medi Serv Biostat Unit Genoa Italy Univ Florence Dept Surg & Translat Med Metab Bone Dis Unit Florence Italy

Sun exposure is the main determinant of vitamin D production. The aim of this study was to develop an algorithm to assess individual vitamin D status, independently of serum 25(OHD) measurement, using a simple questionnaire, mostly relying upon sunlight exposure, which might help select subjects requiring serum 25(OHD) measurement. Six hundred and twenty adult subjects living in a mountain village in Southern Italy, located at 954 m above the sea level and at a latitude of 40 degrees 50'11 '' 76N, were asked to fill the questionnaire in two different periods of the year: August 2010 and March 2011. Seven predictors were considered: month of investigation, age, sex, BMI, average daily sunlight exposure, beach holidays in the past 12 months, and frequency of going outdoors. The statistical model assumes four classes of serum 25(OHD) concentrations: <= 10, 10-19.9, 20-29.9, and >= 30 ng/ml. The algorithm was developed using a two-step procedure. In Step 1, the linear regression equation was defined in 385 randomly selected subjects. In Step 2, the predictive ability of the regression model was tested in the remaining 235 subjects. Seasonality, daily sunlight exposure and beach holidays in the past 12 months accounted for 27.9, 13.5, and 6.4 % of the explained variance in predicting vitamin D status, respectively. The algorithm performed extremely well: 212 of 235 (90.2 %) subjects were assigned to the correct vitamin D status. In conclusion, our pilot study demonstrates that an algorithm to estimate the vitamin D status can be developed using a simple questionnaire based on sunlight exposure.

关键词： Statistical model Predictors 7-Dehydrocholesterol Hypovitaminosis D Seasonality

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Gestione clinica del paziente con ipocalcemia

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L'Endocrinologo 2021年第1期22卷 68-70页

作者： saponaro, federica Dipartimento di Patologia Chirurgica Medica Molecolare e dell’Area Critica Università di Pisa Pisa Italia

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Aryl Hydrocarbon Receptor Interacting Protein (AIP) Mutations Occur Rarely in Sporadic Parathyroid Adenomas

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JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM 2013年第7期98卷 2800-2810页

作者： Pardi, Elena Marcocci, Claudio Borsari, Simona saponaro, federica Torregrossa, Liborio Tancredi, Mariella Raspini, Benedetta Basolo, Fulvio Cetani, Filomena Univ Pisa Dept Clin & Expt Med I-56124 Pisa Italy Univ Pisa Dept Surg Med & Mol Pathol & Crit Area I-56124 Pisa Italy Univ Pisa Dept Translat Res & New Technol Med & Surg I-56124 Pisa Italy

Context: The molecular pathogenesis of primary hyperparathyroidism is still largely unknown. The aryl hydrocarbon receptor interacting protein (AIP) gene has a major role in the pathogenesis of familial isolated pituitary adenoma. Objective: We evaluated the involvement of the AIP gene in sporadic parathyroid adenomas. Patients and Design: We performed direct sequencing and multiplex ligation-dependent probe amplification analyses of the AIP gene in a large analyses of the AIP gene in a large. Loss of heterozygosity (LOH) at the AIP locus was studied, and aryl hydrocarbon receptor interacting protein immunostaining was also performed. In addition, alterations in the MEN1 gene were studied. Results: A somatic AIP mutation, substitution of arginine with glutamine at codon 304 (R304Q), was identified in 2 of 132 tumors. The mutation was germline in both cases despite the nonfamilial presentation. Heterozygous AIP large deletions were detected in 29 cases including 1 of the 2 mutated tumors, confirming a biallelic inactivation of the AIP gene. The AIP-mutated tumor with LOH showed decreased AIP immunostaining compared with normal parathyroid. LOH at the MEN1 locus, which often shared LOH at the AIP locus, was found in one third of tumors. Somatic MEN1 mutations were found in the 1 of the 2 AIP-mutated tumors and in 22 parathyroid adenomas. In addition, multiplex ligation-dependent probe amplification analysis revealed 1 large deletion of the MEN1 gene in 1 patient. Conclusions: The AIP gene is rarely involved in parathyroid adenomas, but the germline nature of the mutations suggests that it might predispose to primary hyperparathyroidism. MEN1 gene alterations occur in a substantial proportion of sporadic parathyroid adenomas.

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