Iron Deficiency and Iron Deficiency Anemia in Children

Iron deficiency anemia is considered the most common and widespread nutritional form of anemia in childhood. Red cells are hypochromic and microcytic with low mean corpuscular volume (MCV), low mean corpuscular hemoglobin (MCH) and low reticulocyte hemoglobin content (CHr). Red blood cell distribution width (RDW) is increased. Serum iron is reduced, transferrin is increased and serum ferritin is decreased. Prematurity, decreased dietary source, malabsorption and blood loss represent the most common causes of iron deficiency. Recommended oral dose of elemental iron is 2–6 mg/kg/day; when normal hemoglobin values are reached, treatment must be generally continued for 3 months in order to replenish iron stores. Rarely intravenous therapy is required. The pediatricians and other health care providers should strive to prevent and eliminate iron deficiency and iron-deficiency anemia

Evaluation of the application of italian national guidelines for prevention and management of dental injuries in developmental age

Background: The objective of this study is to evaluate the application of National guidelines for prevention and clinical management of traumatic dental injuries (NGPCMTDI) in developmental age published by the Italian Ministry of Health. Methods: In the present retrospective and multicenter study, 246 patients who underwent dental injury were selected to assess the management of the traumatic event compiled with the protocol provided by the National guidelines. Each health worker involved completed a form related to the dental injury in order to standardize the collected data. Two reference centers have been identified for data collection. Analyses for comparisons between groups were performed using the X2 test for categorical variables or by Fisher exact test as appropriate. Statistical significance was assumed at p < 0.05. Results: Evaluating the distribution by age we concluded that: 27.24% of the enrolled patients were aged 1-5 years, 51.63% 6-10 years, and 19.92% 11-17 years. The dental injuries occurred in 10.16% of the situations at home, 50.81% at school, 28.86% during recreation, and 9.35% at the gym. The deciduous dentition is involved in 34.96% of the traumas while the permanent dentition is involved in 69.51%. Conclusion: From the present study it emerged that the National guidelines are not uniformly applied

Ring-Opening Polymerization of L-Lactide Catalyzed by Potassium-Based Complexes: Mechanistic Studies

Two non-toxic potassium compounds, 1 and 2, with a commercial oximate ligand have been prepared and fully spectroscopically characterized. Their activity as catalysts for the ring-opening polymerization (ROP) process of LLA has been studied, showing that they are extremely active and able to polymerize the monomer in a few minutes. For derivative 2, the presence of a crown ether in the potassium coordination sphere affects the nuclearity of the compound and consequently its solubility, with both aspects having an influence in the polymerization process. Detailed studies of the polymerization mechanism have been performed, and an unusual anionic mechanism was observed in absence of a co-initiator. Indeed, the monomer deprotonation generates a lactide enolate, which initiates the polymerization propagation. On the contrary, when a 1:1 ratio of cat:BnOH is used, a mixture of mechanisms is observed, the anionic mechanism and the activated monomer one, while from a cat:BnOH ratio of 1:2 and over, only the activated monomer mechanism is observed

Impact of novel coronavirus Disease-19 (COVID-19) pandemic in Italian pediatric emergency departments: a national survey

BACKGROUND: Coronavirus Disease-19 (COVID-19) has rapidly become a pandemic emergency, distressing health systems in each affected country. Preparation strategies for managing this pandemic have been keys to face the COVID-19 surge all over the world and all levels of care.MATERIALS AND METHODS: During the epidemic, the Italian society of pediatric emergency-urgency (SIMEUP) promoted a national survey aiming to evaluate preparedness and response of pediatric emergency departments (PED) critical in ensuring optimal management of COVID-19 cases.RESULTS: Our results suggest that Italian PED have promptly set a proactive approach to the present emergency. 98.9% of the hospitals have defined special pathways and assistive protocols concerning the management of pediatric COVID-19 cases. The highest percentage of application of the measures for preventive and protective for COVID-19 concerned the use of personal protective equipments.CONCLUSIONS: Results show that the following measures for pediatric patients, admitted in PED, have been promptly implemented throughout the whole country: eg. use of protective devices, pre-triage of patients accessing the hospital. Despite COVID-19 being a new threat, we have shown that by developing an easy-to-follow decision algorithm and clear plans for the interventional platform teams, we can ensure optimal health care workers and patients' safety

FERALGINE™ a New Oral iron Compound

Management of iron deficiency (ID) and iron deficiency anemia (IDA) is primarily focused to remove, when possible, the underlying cause of ID; subsequently its treatment is primary focused on iron stores repletion. Ferrous sulphate (FS) remains the mainstay of treatment and it is recommended as the first-line treatment of ID and IDA in children as in adults by all guidelines of scientific societies. However the effectiveness of FS is largely compromised by increased adverse effects, poor compliance and discontinuation of treatment. A new oral iron source named FERALGINE™ (FBC-A) has been recently developed. This new molecule is a patented co-processed one-to-one ratio compound between Ferrous Bysglicinate Chelate (FBC) and Sodium Alginate (AA), obtained by using a spray drying technology. The data presented in this short review highlight the efficacy and safety of the treatment with FBC-A and support its use in adult patients with IDA. Furthermore the present review also provides preliminary evidence to suggest FBC-A as first-line treatment for ID/IDA in patients with celiac disease (CD) or inflammatory bowel diseases (IBD)

RarERN Path: a methodology towards the optimisation of patients’ care pathways in rare and complex diseases developed within the European Reference Networks

Background: In 2017, the European Commission has launched the European Reference Networks (ERNs), virtual networks involving healthcare providers across Europe. The aim of the ERNs is to tackle complex and rare diseases and conditions that require highly specialized treatment and a concentration of knowledge and resources. The ERN on rare and complex connective tissue and musculoskeletal diseases (ERN ReCONNET) is one of the 24 ERNs approved that aims to improve the management of Rare and Complex Connective Tissue and Musculoskeletal Diseases. Objective: The RarERN Path methodology aims to create a single reference organisational model for patients’ care pathways which, if applied in different contexts, helps to ensure an improved, cost-effective and patient-centred equal care to rare and complex diseases. Methods: Starting from existing standard methods for the creation and elaboration of patients’ care pathways, a specific methodology was created in order to take advantage of the distinctive and peculiar characteristics of the ERNs. Specifically, the development of the RarERN Path methodology involved different stakeholders: health economists, clinicians and researchers expert in rare and complex diseases, communication experts, experts in patients’ involvement and narrative medicine and policy-makers. Results: The RarERN Path methodology foresees six consecutive phases, each with different and specific aims. Specifically, the six phases are represented by: Phase 1—mapping of existing patients’ care pathways and patients’ stories; Phase 2—design of an optimised common patients’ care pathway; Phase 3—consensus on an optimised common patients’ care pathway; Phase 4—key performance indicators definition; Phase 5—refinement; Phase 6—pilot phase (optional). Conclusion: The application of RarERN Path to the different disease-specific and geographical contexts would help to ensure an improved, cost-effective and patient-centred equal care to rare and complex diseases across Europe as well as a possible tangible action towards the integration of ERNs into the different European healthcare systems

Genetic variants associated with gastrointestinal symptoms in Fabry disease.

Gastrointestinal symptoms (GIS) are often among the earliest presenting events in Fabry disease (FD), an X-linked lysosomal disorder caused by the deficiency of α-galactosidase A. Despite recent advances in clinical and molecular characterization of FD, the pathophysiology of the GIS is still poorly understood. To shed light either on differential clinical presentation or on intervariability of GIS in FD, we genotyped 1936 genetic markers across 231 genes that encode for drug-metabolizing enzymes and drug transport proteins in 49 FD patients, using the DMET Plus platform. All nine single nucleotide polymorphisms (SNPs) mapped within four genes showed statistically significant differences in genotype frequencies between FD patients who experienced GIS and patients without GIS: ABCB11 (odd ratio (OR) = 18.07, P = 0,0019; OR = 8.21, P = 0,0083; OR=8.21, P = 0,0083; OR = 8.21, P = 0,0083),SLCO1B1 (OR = 9.23, P = 0,0065; OR = 5.08, P = 0,0289; OR = 8.21, P = 0,0083), NR1I3 (OR = 5.40, P = 0,0191) and ABCC5 (OR = 14.44, P = 0,0060). This is the first study that investigates the relationships between genetic heterogeneity in drug absorption, distribution, metabolism and excretion (ADME) related genes and GIS in FD. Our findings provide a novel genetic variant framework which warrants further investigation for precision medicine in FD

Diketo acid inhibitors of nsp13 of SARS-CoV-2 block viral replication

For RNA viruses, RNA helicases have long been recognized to play critical roles during virus replication cycles, facilitating proper folding and replication of viral RNAs, therefore representing an ideal target for drug discovery. SARS-CoV-2 helicase, the non-structural protein 13 (nsp13) is a highly conserved protein among all known coronaviruses, and, at the moment, is one of the most explored viral targets to identify new possible antiviral agents. In the present study, we present six diketo acids (DKAs) as nsp13 inhibitors able to block both SARS-CoV-2 nsp13 enzymatic functions. Among them four compounds were able to inhibit viral replication in the low micromolar range, being active also on other human coronaviruses such as HCoV229E and MERS CoV. The experimental investigation of the binding mode revealed ATP-non-competitive kinetics of inhibition, not affected by substrate-displacement effect, suggesting an allosteric binding mode that was further supported by molecular modelling calculations predicting the binding into an allosteric conserved site located in the RecA2 domain

Validation of PARADISE 24 and Development of PARADISE-EDEN 36 in Patients with Dementia

Dementia was one of the conditions focused on in an EU (European Union) project called “PARADISE” (Psychosocial fActors Relevant to brAin DISorders in Europe) that later produced a measure called PARADISE 24, developed within the biopsychosocial model proposed in the International Classification of Functioning Disability and Health (ICF). The aims of this study are to validate PARADISE 24 on a wider sample of patients with mild to moderate dementia to expand PARADISE 24 by defining a more specific scale for dementia, by adding 18 questions specifically selected for dementia, which eventually should be reduced to 12. We enrolled 123 persons with dementia, recruited between July 2017 and July 2019 in home care and long-term care facilities, in Italy, and 80 participants were recruited in Warsaw between January and July 2012 as part of a previous cross-sectional study. The interviews with the patient and/or family were conducted by health professionals alone or as a team by using the Paradise data collection protocol. The psychometric analysis with the Rasch analysis has shown that PARADISE 24 and the selection of 18 additional condition-specific items can be expected to have good measurement properties to assess the functional state in persons with dementia

Large cryptic genomic rearrangements with apparently normal karyotypes detected by array-CGH.

Background: Conventional karyotyping (550 bands resolution) is able to identify chromosomal aberrations >5-10 Mb, which represent a known cause of intellectual disability/developmental delay (ID/DD) and/or multiple congenital anomalies (MCA). Array-Comparative Genomic Hybridization (array-CGH) has increased the diagnostic yield of 15-20%. Results: In a cohort of 700 ID/DD cases with or without MCA, including 15 prenatal diagnoses, we identified a subgroup of seven patients with a normal karyotype and a large complex rearrangement detected by array-CGH (at least 6, and up to 18 Mb). FISH analysis could be performed on six cases and showed that rearrangements were translocation derivatives, indistinguishable from a normal karyotype as they involved a similar band pattern and size. Five were inherited from a parent with a balanced translocation, whereas two were apparently de novo. Genes spanning the rearrangements could be associated with some phenotypic features in three cases (case 3: DOCK8; case 4: GATA3, AKR1C4; case 6: AS/PWS deletion, CHRNA7), and in two, likely disease genes were present (case 5: NR2F2, TP63, IGF1R; case 7: CDON). Three of our cases were prenatal diagnoses with an apparently normal karyotype. Conclusions: Large complex rearrangements of up to 18 Mb, involving chromosomal regions with similar size and band appearance may be overlooked by conventional karyotyping. Array-CGH allows a precise chromosomal diagnosis and recurrence risk definition, further confirming this analysis as a first tier approach to clarify molecular bases of ID/DD and/or MCA. In prenatal tests, array-CGH is confirmed as an important tool to avoid false negative results due to karyotype intrinsic limit of detection