NEUROD1 mutation in an Italian patient with maturity onset diabetes of the young 6: a case report

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

Alopecia universalis after discontinuation of pegylated interferon and ribavirin combination therapy for hepatitis C: a case report

Abstract 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

Undiagnosed Phenylketonuria Can Exist Everywhere: Results From an International Survey

peer reviewedMany countries do not have a newborn screening (NBS) program, and immigrants from such countries are at risk for late diagnosis of phenylketonuria (PKU). In this international survey, 52 of 259 patients (20%) with late diagnosed PKU were immigrants, and 145 of the 259 (55%) were born before NBS or in a location without NBS. © 2021 The Author

Lifestyle Intervention in NAFLD: Long-Term Diabetes Incidence in Subjects Treated by Web- and Group-Based Programs

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

Risk of binge eating disorder in patients with metabolic dysfunction-associated steatotic liver disease

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/m(2)) 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

Capitolo 14 "Epatiti Virali Croniche", Volume IX "Malattie del Fegato, delle Vie Biliari e del Pancreas", Trattato di Medicina Interna, fondato da Paolo Larizza

Manifestazioni cliniche, dati di laboratorio, caratteristiche istologiche delle epatiti croniche HBV, HDV e HCV relate. Storia naturale, diagnosi e terapia

Considerations when prescribing pharmacotherapy for metabolic associated fatty liver disease

No abstract availabl

Capitolo 14 "Epatiti Virali Croniche", Volume IX "Malattie del Fegato, delle Vie Biliari e del Pancreas", Trattato di Medicina Interna, fondato da Paolo Larizza

Manifestazioni cliniche, dati di laboratorio, caratteristiche istologiche delle epatiti croniche HBV, HDV e HCV relate. Storia naturale, diagnosi e terapia

Bone marrow derived stem cells for the treatment of end-stage liver disease

End-stage disease due to liver cirrhosis is an important cause of death worldwide. Cirrhosis results from progressive, extensive fibrosis and impaired hepatocyte regeneration. The only curative treatment is liver transplantation, but due to the several limitations of this procedure, the interest in alternative therapeutic strategies is increasing. In particular, the potential of bone marrow stem cell (BMSC) therapy in cirrhosis has been explored in different trials. In this article, we evaluate the results of 18 prospective clinical trials, and we provide a descriptive overview of recent advances in the research on hepatic regenerative medicine. The main message from the currently available data in the literature is that BMSC therapy is extremely promising in the context of liver cirrhosis. However, its application should be further explored in randomized, controlled trials with large cohorts and long follow-ups