Approccio diagnostico-terapeutico della Sindrome di McCune-Albright

n/

Case Report: Role of Ketone Monitoring in Diabetic Ketoacidosis With Acute Kidney Injury: Better Safe Than Sorry

BACKGROUND: Type 1 Diabetes (T1D) is a well-known endocrinological disease in children and adolescents that is characterized by immune-mediated destruction of pancreatic β-cells, leading to partial or total insulin deficiency, with an onset that can be subtle (polydipsia, polyuria, weight loss) or abrupt (Diabetic Keto-Acidosis, hereafter DKA, or, although rarely, Hyperosmolar Hyperglycemic State, hereafter HHS). Severe DKA risk at the onset of T1D has recently significantly increased during the SARS-CoV-2 pandemic with life-threatening complications often due to its management. DKA is marked by low pH (7.3) and bicarbonates (>15 mmol/L) with no or very low ketone bodies. Despite this, ketone monitoring is not universally available, and DKA diagnosis is mainly based on pH and bicarbonates. A proper diagnosis of the right form with main elements (pH, bicarbonates, ketones) is essential to begin the right treatment and to identify organ damage (such as acute kidney injury). CASE PRESENTATIONS: In this series, we describe 3 case reports in which the onset of T1D was abrupt with severe acidosis (pH < 7.1) in the absence of both DKA and HHS. In a further evaluation, all 3 patients showed acute kidney injury, which caused low bicarbonates and severe acidosis without increasing ketone bodies. CONCLUSION: Even if it is not routinely recommended, a proper treatment that included bicarbonates was then started, with a good response in terms of clinical and laboratory values. With this case series, we would like to encourage emergency physicians to monitor ketones, which are diriment for a proper diagnosis and treatment of DKA

Evaluation of the efficacy of EU-TIRADS and ACR-TIRADS in risk stratification of pediatric patients with thyroid nodules

BACKGROUND: Pediatric thyroid nodules have a lower prevalence but a higher rate of malignancy (ROM) than those in adults. Ultrasound features suspected of malignancy lead to fine needle aspiration biopsy (FNAB) and subsequent cytological determination, upon which management is decided. Based on the characteristics of ultrasound, to standardize clinician decisions and avoid unnecessary FNAB, the European Thyroid Association and the American Radiology College have established guidelines for Thyroid Imaging, Reporting and Data System (EU-TIRADS and ACR-TIRADS) for ROM stratification of thyroid nodules. The aim of this study is to evaluate the diagnostic performance of ACR-TIRADS and EU-TIRADS in pediatric age. MATERIALS AND METHODS: Subjects younger than 18 years of age with thyroid nodules greater than 0.5 cm observed in the 2000-2020 period were included. RESULTS: Data from 200 subjects were collected. The overall ROM was 13%, rising to 26% if nodules with a diameter >1 cm were considered. Patients with a malignant nodule were more likely to have a higher EU-TIRADS score (p=0.03). Missed cancer diagnoses were 26.9%. Using the EU-TIRADS system, 40% of FNABs could have been avoided, while this scoring system would have resulted in FNAB being performed in 12% of cases where the assessment of ultrasound features would not recommend FNAB. Sensitivity, specificity, positive predictive value (PPV) and negative predictive value (NPV) were 73.1%, 57.1%, 73.1%, and 50%, respectively. Even considering the ACR-TIRADS, a higher score correlated with a higher ROM (p<0.001). This system missed 6 diagnoses of cancer (23.1%). Using the ACR-TIRADS system, 45.3% of FNABs could have been avoided, while FNAB should have been performed in 12% of cases where it was not recommended by ultrasound characteristics. Sensitivity, specificity, PPV and NPV were 76.9%, 50%, 76.9%, and 42.9%, respectively. CONCLUSION: The present study confirms the correspondence of the EU-TIRADS and ACR-TIRADS categories with respect to malignancy but indicates not entirely satisfactory performance compared to FNAB alone. However, the use of the two TIRADS systems should be encouraged in multicentre studies to increase their performance and establish paediatric-specific points in the scoring criteria

Comparative study of gene expression by cDNA microarray in human colorectal cancer tissues and normal mucosa

The causative molecular pathways underlying the pathogenesis of colorectal cancer (CRC) need to be better characterized. The purpose of our study was to better understand the genetic mechanism of oncogenesis for human colorectal cancer and to identify new potential tumor markers of use in clinical practice. We used cDNA microarrays to compare gene expression profiles of colorectal biopsies from 25 CRC patients and 13 normal mucosa from adjacent non-cancerous tissues. Findings were validated by real-time PCR; in addition, western blotting and immunochemistry analysis were carried out as further confirmation of differential expression at a protein level. Comparing cancerous tissues with normal colonic mucosa we identified 584 known genes differentially expressed to a significant degree (p<0.001). Many of the transcripts that were more abundant in tumors than in non-neoplastic tissues appear to reflect important events for colon carcinogenesis. For example, a significant number of these genes serve as apoptotic inhibitors (e.g. BFAR, BIRC1, BIRC6). Furthermore, we observed the simultaneous up-regulation of HLA-E and the down-regulation of beta2-microglobulin; these genes strongly support a potential tumor escape strategy from immune surveillance in colon cancer tissues. Our study provides new gene candidates in the pathogenesis of human CRC disease. From our results we hypothesize that CRC cells escape immune surveillance through a specific gene expression alteration; moreover, over-expression of several survival genes seems to confer a more anti-apoptotic phenotype. These genes are involved in pathways not previously implicated in CRC pathogenesis and they may provide new targets for therapy.Fil: Bianchini, Michele. Fundación P/la Invest.y Prevención del Cancer. Centro de Investigaciones Oncologicas; ArgentinaFil: Levy, Estrella Mariel. Fundación P/la Invest.y Prevención del Cancer. Centro de Investigaciones Oncologicas; Argentina. Universidad de Buenos Aires; ArgentinaFil: Zucchini, Cinzia. Università di Bologna; ItaliaFil: Pinski, Victor. Universidad de Buenos Aires; ArgentinaFil: Macagno, Carlo. Universidad de Buenos Aires; ArgentinaFil: De Sanctis, Paola. Università di Bologna; ItaliaFil: Valvassori, Luisa. Università di Bologna; ItaliaFil: Carinci, Paolo. Università di Bologna; ItaliaFil: Mordoh, Jose. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. Instituto de Investigaciones Bioquímicas de Buenos Aires. Fundación Instituto Leloir. Instituto de Investigaciones Bioquímicas de Buenos Aires; Argentina. Fundación P/la Invest.y Prevención del Cancer. Centro de Investigaciones Oncologicas; Argentin