المؤلفون: Iris Scala, Lucia Brodosi, Valentina Rovelli, Davide Noto, Alberto Burlina

المصدر: Molecular Genetics and Metabolism Reports, Vol 39, Iss , Pp 101065- (2024)

مصطلحات موضوعية: Adverse events, Enzymatic therapy, Enzyme replacement therapy, Pegvaliase, PEGylated phenylalanine ammonia-lyase, Phenylketonuria, Medicine (General), R5-920, Biology (General), QH301-705.5

الوصف: Objective: Phenylketonuria (PKU) is a metabolic disorder necessitating lifelong management to prevent severe neurological impairments. This paper synthesises clinical practices from Italian specialist centres to delineate a unified approach for administering pegvaliase, a novel enzyme replacement therapy for PKU. Methods: Virtual meetings convened in September 2022, gathering a steering committee (SC) of experts from five Italian centres specialising in PKU. The SC reviewed, and discussed clinical practices, and formulated recommendations for pegvaliase treatment. Results: The SC outlined a comprehensive treatment roadmap for PKU management with pegvaliase, emphasising the importance of multidisciplinary care teams, patient selection, pre-treatment evaluation, and education. Recommendations include initial hospital-based pegvaliase administration, regular monitoring of phenylalanine and tyrosine levels, dietary adjustments, and management of adverse events. A consensus was reached on the need for a digital database to manage treatment plans and enhance communication between healthcare professionals and patients. Conclusion: The expert panel's consensus highlights the complexity of PKU management and the necessity for a coordinated, patient-centred approach. The recommendations aim to standardise care across Italian centres and provide a framework for integrating pegvaliase therapy into clinical practice, potentially informing international guidelines. Further research is warranted to evaluate the long-term impact of these practices on patient outcomes and quality of life.

وصف الملف: electronic resource

العلاقة: http://www.sciencedirect.com/science/article/pii/S2214426924000181Test; https://doaj.org/toc/2214-4269Test

الوصول الحر: https://doaj.org/article/ac06090c3ff041458e4eadafae1b51d7Test

المؤلفون: Lucia Brodosi, Michele Stecchi, Francesca Marchignoli, Elisabetta Lucia, Lucia Magnani, Valeria Guarneri, Maria Letizia Petroni, Giulio Marchesini, Loris Pironi

المصدر: Eating and Weight Disorders, Vol 28, Iss 1, Pp 1-9 (2023)

مصطلحات موضوعية: Binge eating disorder, Metabolic dysfunction-associated steatotic liver disease, Metabolic syndrome, FibroScan, Obesity, Overweight, Nutritional diseases. Deficiency diseases, RC620-627

الوصف: Abstract Purpose Very few data exist on the association between metabolic dysfunction-associated steatotic liver disease (MASLD) and eating disorders. The study aimed to evaluate the presence of binge eating disorder (BED), in MASLD subjects. Methods Demographic, clinical investigation, anthropometric measurements and laboratory were collected in 129 patients with MASLD (34.1% males; age, 53.7 years; BMI, 34.4 kg/m2) addressed by general practitioners to a hospital-based unit of metabolic disorders. The risk of binge eating was tested by the binge eating scale (BES); values in the range 17–26 were considered “possible” BED, values > 26 were considered “probable” BED. Hepatic steatosis and fibrosis were tested by surrogate biomarkers and imaging (transient elastography). Calorie intake and lifestyle were self-assessed by questionnaires. Results Possible BED was present in 17.8% of cases, probable BED in another 7.6%, and were neither associated with gender, obesity class, diabetes, features of metabolic syndrome, nor with presence and severity of hepatic steatosis and fibrosis. Also steatosis grade by CAP and fibrosis stage by liver stiffness did not correlate with BES. However, an association was present between the daily caloric intake and “possible” BED (odds ratio, 1.14; 95% confidence interval, 1.05–1.24; “probable” BED, 1.21; 1.07–1.37), after adjustment for confounders. Conclusion Binge eating, as scored by BES, is present in a significant proportion of MASLD cases screened for metabolic disorders in a specialized center. It may impact behavioral treatment, reducing the chance of weight loss without systematic psychological support. Level of Evidence: Level III, cohort analytic study

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1590-1262Test

الوصول الحر: https://doaj.org/article/3f70fef7612e4c08a5e1966f5b176eb0Test

المؤلفون: Lucia Brodosi, Michele Stecchi, Dorina Mita, Francesca Marchignoli, Valeria Guarneri, Giulio Agnelli, Valentino Osti, Federica Perazza, Federica Sacilotto, Andrea Pession, Loris Pironi

المصدر: Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-7 (2023)

مصطلحات موضوعية: COVID-19, SARS-CoV-2, Vaccination, Inherited metabolic diseases, Hereditary metabolic disorders, Medicine

الوصف: Abstract Background The Covid pandemic seems to have had several detrimental effects on managing patients affected by inherited metabolic diseases (IMD), although published data about the impact of COVID-19 on patients suffering from IMD are very scarce. The scope of our work was to evaluate adherence to the vaccination plan, the side effects experienced by our adult IMD patients, and the symptoms of the SARS-CoV-2 infection. Results Sixty-seven patients agreed to respond to a phone interview. The mean age was 36.5 (± 11.6 SD). Regarding the vaccination campaign, fifty-five patients (82%) joined it, of whom ten had received two doses and the remaining forty-five, three. Forty-two patients (76%) reported adverse events following vaccination, the most frequent being local reaction, fever, and asthenia, which lasted an average of two days and resolved without sequelae. Regarding SARS-CoV-2 infection, twenty-seven out of sixty-seven patients (40%) tested positive for the virus; seven of them were not vaccinated at the time of infection; on the other hand, twenty had already had at least two doses. Regarding the prevalence of long-Covid, as many as 12 patients (44%) reported symptoms that persisted after the nasopharyngeal swab tested negative and lasted an average of 81 (± 74 SD) days. There were no statistically significant differences in BMI of patients who contracted the infection and patients who did not (25.15 vs. 25.20, p = .861), between those who had adverse reactions to the vaccine and those who did not (24.40 vs. 25.75, p = .223), between those who had long-Covid and those who did not (25.9 vs. 27.7, p = .183). No relation was observed between metabolic inherited disease, SARS-CoV-2 infection symptoms and adverse vaccine reactions. Conclusions The data indicate that IMD patients adhered to the vaccination campaign comparably to the general Italian population. Adverse events to the vaccine were negligible. SARS-CoV-2 infection, which occurred in most cases after receiving at least two doses of the vaccine, did not cause serious symptoms and never required hospitalisation. A non-negligible share of patients suffered from long-Covid symptoms.

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1750-1172Test

الوصول الحر: https://doaj.org/article/2af369cd51594312a7107c85d05cf9bfTest

المؤلفون: Marta Nugnes, Maurizio Baldassarre, Danilo Ribichini, Daniele Tedesco, Irene Capelli, Daniele Vetrano, Francesca Marchignoli, Lucia Brodosi, Enrico Pompili, Maria Letizia Petroni, Gaetano La Manna, Giulio Marchesini, Marina Naldi, Manuela Bartolini

المصدر: International Journal of Molecular Sciences, Vol 25, Iss 6, p 3168 (2024)

مصطلحات موضوعية: diabetic kidney disease, effective albumin, reduced albumin, structural alterations, oxidative damage, high-resolution mass spectrometry, Biology (General), QH301-705.5, Chemistry, QD1-999

الوصف: Diabetic kidney disease (DKD) is a major cause of morbidity and mortality in individuals with type 2 diabetes mellitus (T2DM). The aim of this study was to investigate whether albumin structural alterations correlate with DKD severity and evaluate whether native and reduced albumin concentrations could complement the diagnosis of DKD. To this end, one hundred and seventeen T2DM patients without (n = 42) and with (n = 75) DKD (DKD I-III upon KDIGO classification) were evaluated; the total albumin concentration (tHA) was quantified by a bromocresol green assay, while structural alterations were profiled via liquid chromatography–high-resolution mass spectrometry (LC-HRMS). The concentrations of native albumin (eHA, effective albumin) and reduced albumin (rHA) were subsequently assessed. The HRMS analyses revealed a reduced relative amount of native albumin in DKD patients along with an increased abundance of altered forms, especially those bearing oxidative modifications. Accordingly, both eHA and rHA values varied during the stages of progressive renal failure, and these alterations were dose-dependently correlated with renal dysfunction. A ROC curve analysis revealed a significantly greater sensitivity and specificity of eHA and rHA than of tHA for diagnosing DKD. Importantly, according to the multivariate logistic regression analysis, the eHA was identified as an independent predictor of DKD.

وصف الملف: electronic resource

العلاقة: https://www.mdpi.com/1422-0067/25/6/3168Test; https://doaj.org/toc/1661-6596Test; https://doaj.org/toc/1422-0067Test

الوصول الحر: https://doaj.org/article/92877081d64248bbad0bb6dfde7c2dfeTest

المؤلفون: Maria Letizia Petroni, Lucia Brodosi, Giulio Marchesini

المصدر: Annals of Hepatology, Vol 28, Iss 1, Pp 100772- (2023)

مصطلحات موضوعية: Cirrhosis, Treatment, Type 2 diabetes, Specialties of internal medicine, RC581-951

وصف الملف: electronic resource

العلاقة: http://www.sciencedirect.com/science/article/pii/S1665268122001144Test; https://doaj.org/toc/1665-2681Test

الوصول الحر: https://doaj.org/article/773eee6947df499e93d07d03fcdb64d7Test

المؤلفون: Lucia Brodosi, Bianca Baracco, Vilma Mantovani, Loris Pironi

المصدر: BMC Endocrine Disorders, Vol 21, Iss 1, Pp 1-7 (2021)

مصطلحات موضوعية: Case report. MODY 6. NEUROD1. Hyperglycaemia. Sulphonylureas. Cardiomyopathy, Diseases of the endocrine glands. Clinical endocrinology, RC648-665

الوصف: Abstract Background Maturity Onset Diabetes of the Young (MODY) is a monogenic, autosomal, dominant disease that results in beta-cells dysfunction with consequent hyperglycaemia. It represents a rare form of diabetes (1–2% of all the cases). Sulphonylureas (SUs) represent the first-line treatment for this form of diabetes mellitus. NEUROD1 is expressed by the nervous and the pancreatic tissues, and it is necessary for the proper development of beta cells. A neurogenic differentiation factor 1 (NEUROD1) gene mutation causes beta-cells dysfunction, inadequate insulin secretion, and hyperglycaemia (MODY 6). Case presentation We have documented a new missense mutation (p.Met114Leu c.340A > C) of the NEUROD1 gene, pathogenetic for diabetes mellitus, in a 48 years-old man affected by diabetes since the age of 25 and treated with insulin basal-bolus therapy. Unfortunately, an attempt to replace rapid insulin with dapagliflozin has failed. However, after the genetic diagnosis of MODY6 and treatment with SUs, he was otherwise able to suspend rapid insulin and close glucose monitoring. Interestingly, our patient had an early onset dilated cardiomyopathy, though no data about cardiac diseases in patients with MODY 6 are available. Conclusions Diagnostic criteria for MODY can overlap with other kinds of diabetes and most cases of genetic diabetes are still misdiagnosed as diabetes type 1 or 2. We encourage to suspect this disease in patients with a strong family history of diabetes, normal BMI, early-onset, and no autoimmunity. The appropriate therapy simplifies disease management and improves the quality of the patient’s life.

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1472-6823Test

الوصول الحر: https://doaj.org/article/9ca1f2b9ff104e78bd85d95e82552723Test

المؤلفون: Maria Letizia Petroni, Lucia Brodosi, Angelo Armandi, Francesca Marchignoli, Elisabetta Bugianesi, Giulio Marchesini

المصدر: Nutrients, Vol 15, Iss 3, p 792 (2023)

مصطلحات موضوعية: behavior therapy, diabetes incidence, fatty liver, lifestyle intervention, web-based intervention, Nutrition. Foods and food supply, TX341-641

الوصف: Background: Behavioral programs are needed for prevention and treatment of NAFLD and the effectiveness of a web-based intervention (WBI) is similar to a standard group-based intervention (GBI) on liver disease biomarkers. Objective: We aimed to test the long-term effectiveness of both programs on diabetes incidence, a common outcome in NAFLD progression. Methods: 546 NAFLD individuals (212 WBI, 334 GBI) were followed up to 60 months with regular 6- to 12-month hospital visits. The two cohorts differed in several socio-demographic and clinical data. In the course of the years, the average BMI similarly decreased in both cohorts, by 5% or more in 24.4% and by 10% or more in 16.5% of cases available at follow-up. After excluding 183 cases with diabetes at entry, diabetes was newly diagnosed in 48 cases during follow-up (31 (16.6% of cases without diabetes at entry) in the GBI cohort vs. 17 (9.7%) in WBI; p = 0.073). Time to diabetes was similar in the two cohorts (mean, 31 ± 18 months since enrollment). At multivariable regression analysis, incident diabetes was significantly associated with prediabetes (odds ratio (OR) 4.40; 95% confidence interval (CI) 1.97–9.81; p < 0.001), percent weight change (OR 0.57; 95% CI 0.41–0.79; p < 0.001) and higher education (OR 0.49; 95% CI 0.27–0.86; p = 0.014), with no effect of other baseline socio-demographic, behavioral and clinical data, and of the type of intervention. The importance of weight change on incident diabetes were confirmed in a sensitivity analysis limited to individuals who completed the follow-up. Conclusion: In individuals with NAFLD, WBI is as effective as GBI on the pending long-term risk of diabetes, via similar results on weight change.

وصف الملف: electronic resource

العلاقة: https://www.mdpi.com/2072-6643/15/3/792Test; https://doaj.org/toc/2072-6643Test

الوصول الحر: https://doaj.org/article/98639db6c25a48969fde72e08034514eTest

المؤلفون: Maria Letizia Petroni, Lucia Brodosi, Francesca Marchignoli, Anna Simona Sasdelli, Paolo Caraceni, Giulio Marchesini, Federico Ravaioli

المصدر: Nutrients, Vol 13, Iss 8, p 2748 (2021)

مصطلحات موضوعية: behaviour, diet, lifestyle, nutrition supplements, sarcopenia, type 2 diabetes, Nutrition. Foods and food supply, TX341-641

الوصف: Unhealthy behaviours, including diet and physical activity, coupled with genetic predisposition, drive type 2 diabetes (T2D) occurrence and severity; the present review aims to summarise the most recent nutritional approaches in T2D, outlining unmet needs. Guidelines consistently suggest reducing energy intake to counteract the obesity epidemic, frequently resulting in sarcopenic obesity, a condition associated with poorer metabolic control and cardiovascular disease. Various dietary approaches have been proposed with largely similar results, with a preference for the Mediterranean diet and the best practice being the diet that patients feel confident of maintaining in the long term based on individual preferences. Patient adherence is indeed the pivotal factor for weight loss and long-term maintenance, requiring intensive lifestyle intervention. The consumption of nutritional supplements continues to increase even if international societies do not support their systematic use. Inositols and vitamin D supplementation, as well as micronutrients (zinc, chromium, magnesium) and pre/probiotics, result in modest improvement in insulin sensitivity, but their use is not systematically suggested. To reach the desired goals, patients should be actively involved in the collaborative development of a personalised meal plan associated with habitual physical activity, aiming at normal body weight and metabolic control.

وصف الملف: electronic resource

العلاقة: https://www.mdpi.com/2072-6643/13/8/2748Test; https://doaj.org/toc/2072-6643Test

الوصول الحر: https://doaj.org/article/d309fcf7cf47499c8aea8ce8eef0e525Test

المؤلفون: Lucia Brodosi, Francesca Marchignoli, Maria Letizia Petroni, Giulio Marchesini

المصدر: Annals of Hepatology, Vol 15, Iss 5, Pp 673-681 (2016)

مصطلحات موضوعية: Bile acids, Fatty liver, Gliflozins, GLP-1 agonists, PPARs, Specialties of internal medicine, RC581-951

الوصف: The role of nonalcoholic fatty liver disease, namely nonalcoholic steatohepatitis (NASH), as risk factor for liver- and non-liver-related morbidity and mortality has been extensively reported. In addition to lifestyle changes, capable of removing the metabolic factors driving disease progression, there is an urgent need for drugs able to reduce hepatic necroinflammation without worsening of fibrosis. This goal is considered by regulatory agencies as surrogate marker to define the effectiveness in pharmacological compounds in NASH, and fast-track approval was granted by the Food and Drug Administration in consideration of disease severity and unmet medical needs. Several compounds are in the pipeline of pharmaceutical industries and are being studied in phase II trials, but only a few (obeticholic acid, elafibranor) have started phase III trials. This concise review is intended to offer a systematic analysis of the most promising therapeutic intervention in NASH. In conclusion, there is reasonable expectation that drug may help curb the burden of NASH, and we look forward to obtaining solid data on their long-term safety and effectiveness. However, we should not forget that behavioral interventions remain a mandatory background treatment, able to stop disease progression in compliant overweight/ obese patients, with results that compare favorably with - and add to - the beneficial effects of drug treatment.

وصف الملف: electronic resource

العلاقة: http://www.sciencedirect.com/science/article/pii/S1665268119306283Test; https://doaj.org/toc/1665-2681Test

الوصول الحر: https://doaj.org/article/2045fc57b2604a9d89c5f598e5e37b94Test

المؤلفون: Nesrine Gamal, Lucia Brodosi, Cosimo Misciali, Annalisa Patrizi, Gentiana Vukatana, Nazzarena Malavolta, Mauro Bernardi, Pietro Andreone

المصدر: Annals of Hepatology, Vol 13, Iss 2, Pp 293-296 (2014)

مصطلحات موضوعية: Alopecia, Side-effects, Antiviral therapy, Specialties of internal medicine, RC581-951

الوصف: For the last decade, the combination therapy of pegylated interferon (Peg-IFN) plus ribavirin (RBV) has been considered as the standard of care treatment for chronic hepatitis C virus (HCV) infection. However, it has been associated with an increased incidence of many adverse cutaneous reactions and emergence of autoantibodies or even autoimmune diseases. We report a case of irreversible alopecia universalis (AU) with complete hair loss extended to the whole body, which started after discontinuation of Peg-IFN/RBV combination therapy for chronic HCV infection. In conclusion, this case represents an uncommon presentation of a common disease. Physicians must be aware of the potential adverse reactions of an antiviral therapy containing IFN, which might occur even after the discontinuation, and fully inform the patient at the beginning of his treatment course. We hope that interferon-free regimens will utterly supplant interferon-based therapy for most or all HCV patients avoiding the emergence of autoimmune manifestations.

وصف الملف: electronic resource

العلاقة: http://www.sciencedirect.com/science/article/pii/S1665268119308944Test; https://doaj.org/toc/1665-2681Test

الوصول الحر: https://doaj.org/article/cc83bb74763d4deda99d1241715e5cf4Test