Acute Inflammation and Elevated Cardiac Markers in a Two-Month-Old Infant with Severe Acute Respiratory Syndrome Coronavirus 2 Infection Presenting with Cardiac Symptoms

Severe acute respiratory syndrome coronavirus 2 infection in children mainly shows a milder course. In complicated cases, it is unknown whether inflammation is predictive of disease severity, as in adults. Moreover, cardiac involvement is anecdotally described. We report the case of a 2-month-old infant with severe acute respiratory syndrome coronavirus 2 infection presenting with fever, tachycardia and elevated interleukin-6, who was diagnosed with myocarditis and treated with immunoglobulins

Hemorrhage during induction chemotherapy in neuroblastoma: additional risk factors in high-risk patients

Background: Neuroblastoma is the most common solid extracranial tumor in children. Patients affected by neuroblastoma are stratified into low, intermediate, and high risk in terms of event-free and overall survival. Some high-risk patients have an additional risk of acute hemorrhagic complications during induction chemotherapy. Aim: To find easily and rapidly assessed parameters that help clinicians identify those patients affected by high-risk neuroblastoma who have an additional risk of hemorrhagic complications. Methods: The clinical notes of patients diagnosed with high-risk neuroblastoma from January 2013 until February 2021 were retrospectively reviewed. Clinical, demographic and laboratory data, biological characteristics of the tumor, and information about treatment and hospital stay were identified. Results: In the examined period, 44 patients were diagnosed with high-risk neuroblastoma. Four of these patients had hemorrhagic complications within 2–7 days after the initiation of induction chemotherapy; two patients had hemothorax, one patient had hemoperitoneum and one patient had hemothorax and hemoperitoneum. The patient with isolated hemoperitoneum was treated with blood components transfusions, clotting factors and colloids infusions; the three patients with hemothorax underwent thoracostomy tube placement and respiratory support. At initial presentation, patients who suffered from hemorrhagic complications had a higher degree of hypertension (stage 2, p = 0.0003), higher levels of LDH (median 3,745 U/L, p = 0.009) and lower levels of hemoglobin (mean 7.6 gr/dl, p = 0.0007) compared to other high-risk patients. Conclusions: A subgroup of “additional” high-risk patients can be identified within the high-risk neuroblastoma patients based on mean arterial pressure, LDH levels and hemoglobin levels at presentation. Further studies to define cut-off values and optimal management strategies for these patients are needed

Vitamin D and ω-3 Supplementations in Mediterranean Diet During the 1st Year of Overt Type 1 Diabetes: A Cohort Study

Vitamin D and omega 3 fatty acid (\u3c9-3) co-supplementation potentially improves type 1 diabetes (T1D) by attenuating autoimmunity and counteracting inflammation. This cohort study, preliminary to a randomized control trial (RCT), is aimed at evaluating, in a series of T1D children assuming Mediterranean diet and an intake of cholecalciferol of 1000U/day from T1D onset, if \u3c9-3 co-supplementation preserves the residual endogen insulin secretion (REIS). Therefore, the cohort of 22 \u201cnew onsets\u201d of 2017 received \u3c9-3 (eicosapentenoic acid (EPA) plus docosahexaenoic acid (DHA), 60 mg/kg/day), and were compared retrospectively vs. the 37 \u201cprevious onsets\u201d without \u3c9-3 supplementation. Glicosilated hemoglobin (HbA1c%), the daily insulin demand (IU/Kg/day) and IDAA1c, a composite index (calculated as IU/Kg/day 7 4 + HbA1c%), as surrogates of REIS, were evaluated at recruitment (T0) and 12 months later (T12). In the \u3c9-3 supplemented group, dietary intakes were evaluated at T0 and T12. As an outcome, a decreased insulin demand (p < 0.01), particularly as pre-meal boluses (p < 0.01), and IDAA1c (p < 0.05), were found in the \u3c9-3 supplemented group, while HbA1c% was not significantly different. Diet analysis in the \u3c9-3 supplemented group, at T12 vs. T0, highlighted that the intake of arachidonic acid (AA) decreased (p < 0.01). At T0, the AA intake was inversely correlated with HbA1c% (p < 0.05; r;. 0.411). In conclusion, the results suggest that vitamin D plus \u3c9-3 co-supplementation as well as AA reduction in the Mediterranean diet display benefits for T1D children at onset and deserve further investigation

Gastrointestinal Symptoms in Severe COVID-19 Children.

There are growing evidence of clinical manifestations other than acute respiratory syndrome in severe acute respiratory syndrome associated with coronavirus 2-infected children. In our multicenter retrospective analysis, we observed among 127 severe acute respiratory syndrome associated with coronavirus 2 positive children that the presence of gastrointestinal symptoms was more frequently associated with severe and critical phenotype (P = 0.029). Moreover, having gastrointestinal symptoms was more frequently reported in patients who developed cardiac impairment

Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies

Genetics of disease, diagnosis and treatmen

FDG PET/CT Volume-Based Quantitative Data and Survival Analysis in Breast Cancer Patients: A Systematic Review of the Literature

Purpose: The study aims to assess the role of SUVs, MTV, TLG, and other FDG PET metric data in predicting the prognosis of patients with newly diagnosed BC. Materials and methods: A systematic review was conducted by using three different databases: Pub- Med, Web of Science, and EMBASE, in the period between January 2011 and May 2021. Studies on the use of FDG PET in BC patients concerning the utility of metric PET data and survival were retrieved. The following keywords were used in diverse combinations: "breast cancer", "18F-FDG", "FDG", "PET", "PET/CT", "FDG PET", "volumetric parameters", "metabolic tumor volume", "MTV", "total lesion glycolysis", "TLG", "prognosis", "prognostic". No limits were applied. The quality of selected papers was assessed by using specific criteria. Results: Totally 123 articles were retrieved, but only 14 studies were selected. In the selected papers, overall, the number of patients was 1850. Overall survival (OS) was the main outcome in three studies, while both OS and disease-free survival (DFS) were considered in the remainder of most papers. PET/CT was performed in patients with BC before surgery or neoadjuvant chemotherapy in 6 studies and in metastatic BC in 8. At multivariable analyses, diverse PET metrics, such as SUVmax, MTV, and TLG, were correlated to recurrence or OS. However, a large heterogeneity for the proposal cut-off, able to discriminate between poor and good prognosis, was found. Conclusion: PET metrics are helpful for the prognosis stratification in patients with locally advanced or metastatic BC. However, no specific cut-off values for these variables are now available in this setting of patients

The role of PET in supratentorial and infratentorial pediatric brain tumors

Objective: This review aims to provide a summary of the clinical indications and limitations of PET imaging with different radiotracers, including 18F-fluorodeoxyglucose (18F-FDG) and other radiopharmaceuticals, in pediatric neuro-oncology, discussing both supratentorial and infratentorial tumors, based on recent literature (from 2010 to present). Methods: A literature search of the PubMed/MEDLINE database was carried out searching for articles on the use of PET in pediatric brain tumors. The search was updated until December 2020 and limited to original studies published in English after 1 January 2010. Results: 18F-FDG PET continues to be successfully employed in different settings in pediatric neuro-oncology, including diagnosis, grading and delineation of the target for stereotactic biopsy, estimation of prognosis, evaluation of recurrence, treatment planning and assessment of treatment response. Nevertheless, non-18F-FDG tracers, especially amino acid analogues seem to show a better performance in each clinical setting. Conclusions: PET imaging adds important information in the diagnostic work-up of pediatric brain tumors. International or national multicentric studies are encouraged in order to collect larger amount of data

Recent developments and object-oriented approach in FTU database

During the last two years, the experimental database of Frascati Tokamak Upgrade (FTU) has been changed from several points of view, particularly: (i) the data and the analysis codes have been moved from the IBM main frame to Unix platforms making enabling the users to take advantage of the large quantities of commercial and free software available under Unix (Matlab, IDL, ...); (ii) AFS (Andrew File System) has been chosen as the distributed file system making the data available on all the nodes and distributing the workload; (iii) 'One measure/one file' philosophy (vs. the previous 'one pulse/one file') has been adopted increasing the number of files into the database but, at the same time, allowing the most important data to be available just after the plasma discharge. The client-server architecture has been tested using the signal viewer client jScope. Moreover, an object oriented data model (OODM) of FTU experimental data has been tried: a generalized model in tokamak experimental data has been developed with typical concepts such as abstraction, encapsulation, inheritance, and polymorphism. The model has been integrated with data coming from different databases, building an Object Warehouse to extract, with data mining techniques, meaningful trends and patterns from huge amounts of data. (C) 2001 Elsevier Science B.V. All rights reserved

DICER1-associated malignancies mimicking germ cell neoplasms: Report of two cases and review of the literature

DICER1 syndrome is characterized by a unique combination of features and a growing list of associated rare tumors. Traditionally, gonadal or extra-gonadal teratomas have not been considered part of this spectrum, with only rare DICER1-related teratoid neoplasms recently reported. Besides, their methylation profiles remain elusive. We report two DICER1-associated malignancies involving the lumbar spine of a 22-year-old man (case 1) and the pelvic cavity of a 14-year-old girl (case 2). Both tumors exhibited teratoma-like features with a high-grade malignant somatic component, including rhabdomyosarcomatous elements for case 1 and a malignant neuroectodermal neoplasm with features of an embryonal tumor with multilayered rosettes (ETMR) for case 2. Both tumors showed strong SALL4 expression and H3K27me3 loss by immunohistochemistry. Next-generation sequencing studies confirmed biallelic DICER1 mutations with additional pathogenic missense mutations in KRAS (case 1) and CTNNB1 (case 2). The methylation profile of case 1 clustered with DICER1-associated sarcomas, whereas case 2 classified as an ETMR (albeit low raw and calibrated score). In conclusion, we report two DICER1-related malignancies with teratoma-like features, further expanding their morphologic spectrum and highlighting the multipotentiality of their presumed cell of origin. Notably, we describe the first ETMR identified outside the CNS with a documented DICER1 biallelic inactivation. Our findings also highlight the potential role of other molecular alterations such as KRAS and CTNNB1 mutations in defining the phenotype of embryonal and primitive DICER1-associated neoplasms, a notion that deserves further studies