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1.
Ital J Pediatr ; 50(1): 129, 2024 Jul 27.
Artigo em Inglês | MEDLINE | ID: mdl-39061072

RESUMO

BACKGROUND: Studies have indicated an association between cesarean section (CS), especially elective CS, and an increased risk of celiac disease (CD), but the conclusions of other studies are contradictory. The primary aim of this study (CD-deliver-IT) was to evaluate the rate of CS in a large population of CD patients throughout Italy.  METHODS: This national multicenter retrospective study was conducted between December 2020 and November 2021. The coordinating center was the Pediatric Gastroenterology and Liver Unit of Policlinico Umberto I, Sapienza, University of Rome, Lazio, Italy. Eleven other referral centers for CD have participated to the study. Each center has collected data on mode of delivery and perinatal period of all CD patients referring to the center in the last 40 years. RESULTS: Out of 3,259 CD patients recruited in different Italian regions, data on the mode of delivery were obtained from 3,234. One thousand nine hundred forty-one (1,941) patients (60%) were born vaginally and 1,293 (40%) by CS (8.3% emergency CS, 30.1% planned CS, 1.5% undefined CS). A statistically significant difference was found comparing median age at time of CD diagnosis of patients who were born by emergency CS (4 years, CI 95% 3.40-4.59), planned CS (7 years, CI 95% 6.02-7.97) and vaginal delivery (6 years, CI 95% 5.62-6.37) (log rank p < 0.0001). CONCLUSIONS: This is the first Italian multicenter study aiming at evaluating the rate of CS in a large population of CD patients through Italy. The CS rate found in our CD patients is higher than rates reported in the general population over the last 40 years and emergency CS seems to be associated with an earlier onset of CD compared to vaginal delivery or elective CS in our large nationwide retrospective cohort. This suggests a potential role of the mode of delivery on the risk of developing CD and on its age of onset, but it is more likely that it works in concert with other perinatal factors. Further prospective studies on other perinatal factors potentially influencing gut microbiota are awaited in order to address heavy conflicting evidence reaming in this research field.


Assuntos
Doença Celíaca , Cesárea , Parto Obstétrico , Humanos , Itália/epidemiologia , Doença Celíaca/epidemiologia , Estudos Retrospectivos , Feminino , Parto Obstétrico/estatística & dados numéricos , Cesárea/estatística & dados numéricos , Gravidez , Prevalência , Masculino , Pré-Escolar , Criança , Adulto
2.
Front Pediatr ; 12: 1379162, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38567182

RESUMO

Introduction: Eosinophilic esophagitis (EoE) is a chronic, immune-mediated inflammation of the esophagus, characterized by symptoms related to esophageal dysfunction, resulting from severe eosinophilic infiltration of the esophageal mucosa. It is common in atopic subjects and food antigens have been identified as the most common triggers. However, a seasonal variation in EoE prevalence, correlated with air pollen levels, is reported, suggesting that also aeroallergens may play a role. Little is known about the interplay between EoE and concomitant atopy treatment for aeroallergens. Case presentation: We describe the case of an 11-year-old boy who presented dysphagia, vomiting, drooling, and chest pain while eating meat, developed 15 months after receiving sublingual immunotherapy (SLIT) for Alternaria (SUBLIVAC®). He underwent esophagogastroduodenoscopy (EGD) revealing severe eosinophilic predominant inflammation (100 eos/HPF), consistent with the diagnosis of EoE, not improving at the EGDs performed after both omeprazole and topical corticosteroids treatment, despite symptom improvement. Afterward, immunotherapy was switched from sublingual to injective form. At the EGD performed 1 month later, macroscopic examination of the esophageal mucosa was normal and eosinophilic infiltration was significantly decreased (5-10 eos/HPF). Conclusions: SLIT may induce EoE by chronic antigenic exposure of oral mucosa in patients with a robust allergic susceptibility: while attenuating the IgE-mediated immune reactions, the progressive contact with the causative allergen might induce a chronic stimulation of the immune system with the consequent activation of tissue eosinophils. Our data suggest monitoring patients receiving SLIT for EoE symptoms and to discontinue SLIT on their earlier appearance, possibly as a first-line treatment.

3.
BMC Med Educ ; 24(1): 345, 2024 Mar 27.
Artigo em Inglês | MEDLINE | ID: mdl-38539183

RESUMO

BACKGROUND: Diabetic ketoacidosis (DKA) is a frequent manifestation at the onset of type 1 diabetes mellitus in children, possibly associated with a wide range of complications, often as a consequence of wrong or delayed treatment. Due to its complex and risky management, direct exposure to real situations alone is not sufficient to achieve adequate skills in pediatric DKA for residents. Simulation could be a valuable aid, allowing to practice a standardized scenario of a complex real-world situation. We aimed to test the effectiveness of a standardized scenario of pediatric DKA in teaching its recognition and treatment. METHODS: We develop a standardized scenario able to guide step-by-step the learners through the flowchart of DKA management and considering alternative evolutions in the case of possible deviations from guidelines. It was a real-life simulation with the use of a high-fidelity pediatric simulator. It was played by 78 pediatrics 20 and emergency medicine residents. At the end of the simulation, a validated questionnaire was administered to collect feedback from participants regarding the impact of the simulation on learning. All materials to reproduce the DKA scenario are provided. RESULTS: Overall, the scenario was rated as realistic (mean score 4.37 ± 0.68, from 1 to 5) and relevant to professional training (4.72 ± 0.47), useful in increasing confidence in interpreting laboratory tests (3.97 ± 0.65), group organization and communication strategies (3.49 ± 0.94), and managing the treatment of DKA (3.46 ± 0.92). CONCLUSIONS: The use of a standardized scenario of pediatric DKA may be a valid tool to reinforce theoretical knowledge in residents, both in pediatrics and in emergency medicine, and to directly and safely practice pediatric DKA management.


Assuntos
Diabetes Mellitus Tipo 1 , Cetoacidose Diabética , Criança , Humanos , Cetoacidose Diabética/terapia , Cetoacidose Diabética/complicações , Estudos Transversais , Diabetes Mellitus Tipo 1/complicações , Diabetes Mellitus Tipo 1/terapia , Aprendizagem , Simulação por Computador
4.
JAMA Netw Open ; 6(8): e2327272, 2023 08 01.
Artigo em Inglês | MEDLINE | ID: mdl-37535352

RESUMO

Importance: Deviations from international resuscitation guidelines during the management of pediatric cardiac arrest are frequent and affect clinical outcomes. An interactive tablet application (app), PediAppRREST, was developed to reduce guideline deviations during pediatric cardiac arrest. Objective: To assess the effectiveness of PediAppRREST in improving the management of simulated in-hospital pediatric cardiac arrest. Design, Setting, and Participants: This multicenter 3-group simulation-based randomized clinical trial was conducted from September 2020 to December 2021 at 4 Italian university hospitals (Padua, Florence, Rome, Novara). Participants included residents in pediatrics, emergency medicine, and anesthesiology. Analyses were conducted as intention-to-treat. Data were analyzed from January to June 2022. Interventions: Teams were randomized to 1 of 3 study groups: an intervention group that used the PediAppRREST app; a control group that used a paper-based cognitive aid, the Pediatric Advanced Life Support (PALS) pocket card; and a control group that used no cognitive aids. All the teams managed the same standardized simulated scenario of nonshockable pediatric cardiac arrest. Main Outcomes and Measures: The primary outcome was the number of deviations from guidelines, measured by a 15-item checklist based on guideline recommendations. The main secondary outcomes were quality of chest compressions, team clinical performance (measured by the Clinical Performance Tool), and perceived team leader's workload. Study outcomes were assessed via video reviews of the scenarios. Results: Overall 100 teams of 300 participants (mean [SD] age, 29.0 [2.2] years; 195 [65%] female) were analyzed by intention-to-treat, including 32 teams randomized to the PediAppRREST group, 35 teams randomized to the PALS control group, and 33 teams randomized to the null control group. Participant characteristics (210 pediatric residents [70%]; 48 anesthesiology residents [16%]; 42 emergency medicine residents [14%]) were not statistically different among the study groups. The number of deviations from guidelines was significantly lower in the PediAppRREST group than in the control groups (mean difference vs PALS control, -3.0; 95% CI, -4.0 to -1.9; P < .001; mean difference vs null control, -2.6; 95% CI, -3.6 to -1.5; P < .001). Clinical Performance Tool scores were significantly higher in the PediAppRREST group than control groups (mean difference vs PALS control, 1.4; 95% CI, 0.4 to 2.3; P = .002; mean difference vs null control, 1.1; 95% CI, 0.2 to 2.1; P = .01). The other secondary outcomes did not significantly differ among the study groups. Conclusions and Relevance: In this randomized clinical trial, the use of the PediAppRREST app resulted in fewer deviations from guidelines and a better team clinical performance during the management of pediatric cardiac arrest. Trial Registration: ClinicalTrials.gov Identifier: NCT04619498.


Assuntos
Anestesiologia , Parada Cardíaca , Humanos , Criança , Feminino , Adulto , Masculino , Parada Cardíaca/terapia , Ressuscitação , Biometria
5.
Nutrients ; 15(11)2023 May 24.
Artigo em Inglês | MEDLINE | ID: mdl-37299417

RESUMO

Lifelong adherence to a gluten-free diet (GFD) is the cornerstone of management of celiac disease (CD), but adhering to a GFD can be hard. Although several factors are positively associated with adherence of pediatric CD patients to a GFD, it is unknown whether these are influenced by variability caused by the specific tool used to assess adherence to a GFD. Here, we aimed to evaluate how individual patient characteristics and dietary counselling by a trained dietitian influence adherence to a GFD in children with CD, as assessed by two validated questionnaires: the Biagi questionnaire and the Leffler short questionnaire adapted for pediatric patients. Some 139 children and adolescents were recruited in a cross-sectional, multicenter study. Concordance between the two questionnaires in defining adherence was fair (weighted Cohen's kappa coefficient 0.39, 95%CI 0.19-0.60). Upon regression analysis, having a cohabiting family member with CD, being of Italian origin, and receiving specialized dietary counselling during follow-up were found to positively influence stricter adherence to a GFD for children with CD. Neither questionnaire detected a significant relationship between adherence to a GFD and the presence of symptoms after gluten ingestion. This study provides important new data on the factors influencing GFD adherence in the pediatric population, and highlights the importance of dietician input and overcoming language and cultural barriers when educating patients.


Assuntos
Doença Celíaca , Adolescente , Humanos , Criança , Dieta Livre de Glúten , Estudos Transversais , Cooperação do Paciente , Glutens
6.
Ital J Pediatr ; 49(1): 40, 2023 Mar 29.
Artigo em Inglês | MEDLINE | ID: mdl-36978101

RESUMO

Rates of antibiotic-resistant bacteria have increased worldwide over recent years, but the Italian Institute of Health reported a disruption to this trend in 2021 compared with 2020. Children are often recipients of unnecessary antibiotic prescriptions, especially for respiratory tract infections (RTIs). During the initial phase of the COVID-19 pandemic, common RTIs substantially decreased, so it is conceivable that antibiotic prescriptions also reduced during this time. To test this hypothesis, we retrospectively collected data on all visits to a pediatric primary care clinic in Northern Italy from February 20, 2020 to June 2, 2020 and compared data with the same period in 2019. We evaluated the antibiotic prescription rate according to the diagnosis at discharge. While the total number of visits significantly decreased (1335 in 2020 vs. 4899 in 2019), there was only a slight reduction in the antibiotic prescription rate (1039 in 2019, 21.2%, vs. 272 in 2020, 20.4%). However, this corresponded to a 73.8% decrease in the total number of antibiotic prescriptions, with antibiotics for RTI accounting for 69% of the total reduction. It is possible that, at the larger scale, reduced antibiotic prescription in pediatrics during the COVID-19 pandemic resulted in a slight reduction in antimicrobial resistance.


Assuntos
COVID-19 , Infecções Respiratórias , Criança , Humanos , Antibacterianos/uso terapêutico , Prescrições de Medicamentos , Estudos Retrospectivos , Pandemias , COVID-19/epidemiologia , Farmacorresistência Bacteriana , Itália/epidemiologia , Infecções Respiratórias/tratamento farmacológico , Infecções Respiratórias/epidemiologia , Infecções Respiratórias/diagnóstico , Alta do Paciente , Padrões de Prática Médica
7.
Viruses ; 15(2)2023 01 19.
Artigo em Inglês | MEDLINE | ID: mdl-36851494

RESUMO

The restrictive measures adopted worldwide against SARS-CoV-2 produced a drastic reduction in respiratory pathogens, including RSV, but a dramatic rebound was thereafter reported. In this multicenter retrospective observational study in 15 Pediatric Emergency Departments, all children <3 years old with RSV infection admitted between 1 September and 31 December 2021 were included and compared to those admitted in the same period of 2020 and 2019. The primary aim was to evaluate RSV epidemiology during and after the COVID-19 pandemic peak. The secondary aims were to evaluate the clinical features of children with RSV infection. Overall, 1015 children were enrolled: 100 in 2019, 3 in 2020 and 912 in 2021. In 2019, the peak was recorded in December, and in 2021, it was recorded in November. Comparing 2019 to 2021, in 2021 the median age was significantly higher and the age group 2-3 years was more affected. Admissions were significantly higher in 2021 than in 2020 and 2019, and the per-year hospitalization rate was lower in 2021 (84% vs. 93% in 2019), while the duration of admissions was similar. No difference was found in severity between 2019-2020-2021. In conclusion, after the COVID-19 pandemic, an increase in RSV cases in 2021 exceeding the median seasonal peak was detected, with the involvement of older children, while no difference was found in severity.


Assuntos
COVID-19 , Infecções por Vírus Respiratório Sincicial , Criança , Humanos , Adolescente , Pré-Escolar , COVID-19/epidemiologia , SARS-CoV-2 , Pandemias , Infecções por Vírus Respiratório Sincicial/epidemiologia , Serviço Hospitalar de Emergência
8.
Children (Basel) ; 10(1)2023 Jan 06.
Artigo em Inglês | MEDLINE | ID: mdl-36670668

RESUMO

BACKGROUND: Subclinical hypothyroidism (SH) management in neonatal age opens important questions. We aimed to describe the evolution over time of subclinical hypothyroidism diagnosed in the first three months of life in a population of full-term neonates. METHODS: A single-center longitudinal retrospective cohort study in a tertiary care center was conducted. We recruited 32 subjects with SH diagnosed within the first three months of life. We collected clinical, biochemical, and ultrasound data for every subject at the first examination and every six months until four years of age. RESULTS: A total of 43.8% of subjects showed stimulating thyroid hormone (TSH) levels over the limit of 10 mUI/L and underwent treatment (Group 1). Eleven subjects started therapy at the first visit, while three subjects started it after a period of observation; 15.6% (Group 2A) showed a trend of TSH decrease and were finally discharged from the follow-up, while 40.6% (Group 2B) showed a TSH level slightly increased, changeless over time. CONCLUSIONS: We demonstrated that more than half of newborns with hyperthyrotropinemia did not require substitutive therapy showing a positive trend toward normalization or a remaining slight increase compared to normal levels. Moreover, our study suggests the need for a follow-up over time to check the TSH levels course.

9.
Minerva Pediatr (Torino) ; 75(3): 347-353, 2023 06.
Artigo em Inglês | MEDLINE | ID: mdl-30961339

RESUMO

BACKGROUND: Neurally adjusted ventilatory assist (NAVA) is a respiratory support triggered by the electrical activity of the diaphragm (EAdi). Only few studies evaluated NAVA short-term efficacy and safety in newborns. Aim of this study was to assess efficacy and safety of NAVA in a cohort of newborns and to analyze ventilation parameters helpful to guide weaning. METHODS: Thirty-four newborns with respiratory failure were ventilated with synchronized intermittent mandatory ventilation plus pressure-regulated volume control plus pressure support (SIMV(PRVC)+PS) for 12 hours and switched to NAVA until extubation. Ventilator and vital parameters, oxygen saturation (SpO2)/fraction of inspired oxygen (FiO2) ratio (S/F), arterialized capillary blood gases (aCBG), and sedatives dose were recorded. The occurrence of reintubation within the first 72 hours, pneumothorax and mortality were evaluated. RESULTS: After 6 hours of NAVA, a significant reduction of FiO2 (0.25 versus 0.32), and peak inspiratory pressure (13 versus 18 mmHg), and a significant increase of S/F (383 versus 316) were found, compared to SIMV(PRVC)+PS. Other ventilation, vital and aCBG parameters were similar in both ventilation modes. During NAVA a significant reduction of sedation was shown. All subjects were successfully extubated guided by EAdi peak during weaning. No reintubation, pneumothorax, or death were recorded. CONCLUSIONS: NAVA can be effectively and safely used in neonates. The EAdi peak could be a reliable index to guide the physicians during weaning and extubation.


Assuntos
Suporte Ventilatório Interativo , Pneumotórax , Humanos , Recém-Nascido , Estudos Prospectivos , Respiração , Oxigênio
10.
J Ren Nutr ; 33(1): 17-28, 2023 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-35870690

RESUMO

BACKGROUND: The "HDF-Heart-Height" study showed that haemodiafiltration (HDF) is associated with improved growth compared to conventional haemodialysis (HD). We report a post-hoc analysis of this study assessing the effect of extracorporeal dialysis therapies on nutritional indices. METHODS: 107 children were included in the baseline cross-sectional analysis, of whom 79 (43 HD, 36 HDF) completed the 12-month follow-up. Height (Ht), optimal 'dry' weight (Wt), and body mass index (BMI) standard deviations scores (SDS), waist-to-hip ratio, des-acyl ghrelin (DAG), adiponectin, leptin, insulin-like growth factor-1 (IGF-1)-SDS and insulin were measured. RESULTS: The levels of nutritional indices were comparable between HDF and HD patients at baseline and 12-month. On univariable analyses Wt-SDS positively correlated with leptin and IGF-1-SDS, and negatively with DAG, while Ht-SDS of the overall cohort positively correlated with IGF1-SDS and inversely with DAG and adiponectin. On multivariable analyses, higher 12-month Ht-SDS was inversely associated with baseline DAG (beta = -0.13 per 500 higher; 95%CI -0.22, -0.04; P = .004). Higher Wt-SDS at 12-month was positively associated with HDF modality (beta = 0.47 vs HD; 95%CI 0.12-0.83; P = .01) and inversely with baseline DAG (beta = -0.18 per 500 higher; 95%CI -0.32, -0.05; P = .006). Growth Hormone (GH) treated patients receiving HDF had higher annualized increase in Ht SDS compared to those on HD. CONCLUSIONS: In children on HD and HDF both Wt- and Ht-SDS independently correlated with lower baseline levels of the anorexygenic hormone DAG. HDF may attenuate the resistance to GH, but further studies are required to examine the mechanisms linking HDF to improved growth.


Assuntos
Hemodiafiltração , Falência Renal Crônica , Humanos , Criança , Hemodiafiltração/efeitos adversos , Fator de Crescimento Insulin-Like I , Leptina , Estudos Transversais , Adiponectina , Diálise Renal/efeitos adversos , Peso Corporal , Falência Renal Crônica/terapia , Falência Renal Crônica/etiologia
12.
Ital J Pediatr ; 48(1): 100, 2022 Jun 16.
Artigo em Inglês | MEDLINE | ID: mdl-35710390

RESUMO

In our third-level Neonatal Unit in Northern Italy, we recorded a high rate of neonatal hyperbilirubinemia requiring phototherapy in March-November 2020, during the first phase of COVID-19 pandemic, compared to the previous year (198/1348, 14.2%, vs 141/1432, 9.8%, p = 0.0004). Supposing it could be the result of neonatal polycythemia, we evaluated capillary hematocrit (Hct) and the rate of hyperbilirubinemia in all newborns ≥36 weeks gestational age born in December 2020. Out of 73 neonates, 37 had Hct ≥65% (50.7%). However, as capillary blood samples may overestimate Hct by 5-15%, even downsizing all values by 15%, Hct was still ≥65% in 9/73 neonates (12.3%), much higher than 0.4-5% prevalence of polycythemia reported in healthy newborns. All those newborns were singleton and healthy, with no clinical signs of hyperviscosity and no underlying factors predisposing to polycythemia. Out of 73 newborns, 13 (17.8%) developed hyperbilirubinemia requiring phototherapy. Their mean Hct value was 66.3 ± 8.2%. Since hyperbilirubinemia is common in the offspring of women with SARS-CoV-2 infection and we recorded increased rates of neonatal hyperbilirubinemia in the first phase of COVID-19 pandemic, it could be hypothesized that even asymptomatic Sars-CoV2 infection during pregnancy might cause placental vascular malperfusion, eliciting polycythemia in the fetus as a compensatory response, that could be the link between COVID-19 in the mothers and hyperbilirubinemia in the newborns.


Assuntos
COVID-19 , Doenças Hematológicas , Hiperbilirrubinemia Neonatal , Doenças do Recém-Nascido , Policitemia , COVID-19/epidemiologia , Feminino , Humanos , Hiperbilirrubinemia Neonatal/epidemiologia , Hiperbilirrubinemia Neonatal/terapia , Recém-Nascido , Doenças do Recém-Nascido/diagnóstico , Pandemias , Placenta , Policitemia/epidemiologia , Gravidez , RNA Viral , SARS-CoV-2
13.
Eur J Pediatr ; 181(1): 83-90, 2022 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-34196792

RESUMO

The measurement of sodium intake may be important for the management of hypertension. Dietary surveys and 24-h urinary collection are often unreliable and/or impractical. We hypothesized that urinary sodium excretion can be accurately estimated through multiple spot urine samples from different days. All enrolled subjects were children of the coauthors of the study. Fifty-two 24-h urinary collections (4 per subject) for measuring sodium excretion and the 297 related urinary samples (1 per voiding) were collected for calculating the urinary sodium/urinary creatinine ratio in 13 children. The mean of 4 measured sodium excretions served as the individual "gold standard". Twenty-four urinary collections were used to generate the equation predicting the mean measured sodium excretion from the mean of 4 urinary sodium/urinary creatinine [= 0.016 × urinary sodium (mmol/L) / urinary creatinine (mmol/L) ratio + 3.3)]; the remaining 28 urinary collections and 153 urinary samples were used for the external validation. All subjects underwent an additional validation procedure involving 12 urinary samples randomly collected on different days 6 months apart. The performance of sodium excretion calculated from a total of over 22,000 possible means of 4 out of all the available urinary samples, randomly taken on different days, was analyzed as to precision (by means of the coefficient of variation) and as to accuracy (by means of the P30). The coefficients of variations of measured vs. calculated sodium excretion were 25.3% vs. 25.8%, and the P30 of calculated sodium excretion was 100%. The excellent performance of calculated sodium excretion was confirmed both by external validation and by samples collected 6 months apart with mean P30s, all between 86 and 100%.Conclusion: In the described experimental conditions, urinary sodium excretion was estimated with equal precision and more accurately (and practically) by the mean of 4 urinary sodium/urinary creatinine ratios from random samples from different days than by a single urinary collection. In real life, with several errors systematically affecting urinary collection, the superiority of calculated sodium excretion is likely to be even greater. What is Known: • The measurement of sodium intake with the current standards of care (dietary survey or 24-h urinary collection) is laborious and can be inaccurate. What is New: • The study provides evidence that sodium intake can be estimated equally precisely, more accurately and more practically with the urinary sodium-to-urinary creatinine ratio from 4 urine samples taken on different days than with a single urinary collection.


Assuntos
Hipertensão , Sódio na Dieta , Criança , Creatinina , Dieta , Humanos , Sódio , Urinálise , Coleta de Urina
14.
Mol Genet Genomic Med ; 10(1): e1793, 2022 01.
Artigo em Inglês | MEDLINE | ID: mdl-34811950

RESUMO

BACKGROUND: SHOX enhancer CNVs, affecting one or more of the seven recognized evolutionary conserved non-coding elements (CNEs) represent one of the most frequent cause of SHOX-haploinsufficiency. During the diagnostic workflow deletions/duplications have been identified downstream SHOX not including any of the these CNEs. METHODS: Fine tiling aCGH and breakpoint PCR were used to characterize the critical interval and to search for novel alterations in a cohort of selected patients. RESULTS: Screening of 252 controls provided evidence that duplications in this area represent likely benign variants whereas none of the deletions were detected. These findings suggested that other alterations relevant for SHOX-haploinsufficiency might be missed by the standard diagnostic methods. To identify such undisclosed elements, the aCGH was used to reanalyze 52 unresolved cases with clinical features strongly suggestive of SHOX-haploinsufficiency. This analysis followed by the screening of 210 patients detected two partially overlapping small deletions of ~12 and ~8 kb in four unrelated individuals, approximately 15 kb downstream SHOX, that were absent in 720 normal stature individuals. CONCLUSION: Our results strengthen the hypothesis that alterations of yet unidentified cis-regulatory elements residing outside those investigated through conventional methods, might explain the phenotype in ISS/LWD patients thus enlarging the spectrum of variants contributing to SHOX-haploinsufficiency.


Assuntos
Nanismo , Osteocondrodisplasias , Proteína de Homoeobox de Baixa Estatura , Variações do Número de Cópias de DNA , Nanismo/diagnóstico , Nanismo/genética , Transtornos do Crescimento , Haploinsuficiência , Humanos , Osteocondrodisplasias/diagnóstico , Osteocondrodisplasias/genética , Proteína de Homoeobox de Baixa Estatura/genética
15.
Viruses ; 15(1)2022 12 28.
Artigo em Inglês | MEDLINE | ID: mdl-36680121

RESUMO

The choice of the best SARS-CoV-2 detection approach is crucial to predict which children with SARS-CoV-2 are at high risk of spreading the virus in order to manage public health measures and policies. In this prospective observational study of 35 children admitted to the Pediatric Emergency Departments of two tertiary hospitals in Northern Italy who tested positive for SARS-CoV-2 by standard RT-PCR in nasopharyngeal swab (NPS), we evaluated their presenting symptoms according to their salivary viral load (SVL) determined by droplet digital PCR (ddPCR). Despite an overall low concordance between SARS-CoV-2 detected by salivary ddPCR and NPS RT-PCR (54.3%), when only patients with nasopharyngeal symptoms were analyzed, the sensitivity of ddPCR in saliva specimens increased to 71.4%, and over half of these patients had high SVL (>105 copies/mL), which was significantly more frequent than in children without nasopharyngeal symptoms (57.1% vs. 14.3%, OR = 8, CI 95% 1.28−50.03, p = 0.03). All asymptomatic children had low SVL values. Our findings support the hypothesis that children with nasopharyngeal symptoms are at higher risk of spreading SARS-CoV-2 due to their high SVL and, conversely, asymptomatic children are unlikely to spread the virus due to their low SVL, regardless of their NPS positivity.


Assuntos
COVID-19 , SARS-CoV-2 , Humanos , Criança , SARS-CoV-2/genética , COVID-19/diagnóstico , Carga Viral , Reação em Cadeia da Polimerase em Tempo Real , Nasofaringe , Saliva , Manejo de Espécimes
16.
Children (Basel) ; 8(11)2021 Oct 25.
Artigo em Inglês | MEDLINE | ID: mdl-34828676

RESUMO

During the initial phase of the national lockdown, we found that there were sharp decreases in admissions to two pediatric emergency departments (EDs) in northern Italy (Cremona and Novara). Here we present a detailed analysis of these admission patterns and types of admissions over a longer timeframe. ED admissions data were anonymously extracted from the departmental management software. Admissions data from 2019 and 2020 were analyzed and compared separately for each ED and combined. There was a 73.2% decrease in total admissions compared with the same period in 2019. With respect to admission diagnoses, there was a significant (p < 0.001) drop in infectious (-51%), respiratory (-25.5%), and nervous systems diseases (-50%) and injuries and poisoning (-17%) but not endocrine, metabolic, neoplastic, circulatory, or musculoskeletal diseases. White codes (patients with minor injuries for whom ED medical care is not required) significantly decreased by 56.3% (p < 0.001). Even if the COVID-19 pandemic represented an enormous healthcare burden in Italy, especially during the first months of the pandemic (late February to May), the workload of pediatric EDs was significantly reduced, especially for unnecessary accesses (white codes).

17.
Nutrients ; 13(10)2021 Sep 23.
Artigo em Inglês | MEDLINE | ID: mdl-34684332

RESUMO

Breakfast skipping increases with age, and an association with a high risk of being overweight (OW) and of obesity (OB), cardiometabolic risk, and unhealthy diet regimen has been demonstrated in observational studies with children and adults. Short-term intervention trials in adults reported conflicting results. The purpose of this systematic review was to summarize the association of breakfast skipping with body weight, metabolic features, and nutrition quality in the groups of young people that underwent randomized controlled (RCT) or intervention longitudinal trials lasting more than two months. We searched relevant databases (2000-2021) and identified 584 articles, of which 16 were suitable for inclusion. Overall, 50,066 children and adolescents were included. No studies analyzed cardiometabolic features. Interventions were efficacious in reducing breakfast skipping prevalence when multi-level approaches were used. Two longitudinal studies reported a high prevalence of OW/OB in breakfast skippers, whereas RCTs had negligible effects. Ten studies reported a lower-quality dietary intake in breakfast skippers. This review provides insight into the fact that breakfast skipping is a modifiable marker of the risk of OW/OB and unhealthy nutritional habits in children and adolescents. Further long-term multi-level intervention studies are needed to investigate the relationship between breakfast, nutrition quality, chronotypes, and cardiometabolic risk in youths.


Assuntos
Peso Corporal , Desjejum , Fatores de Risco Cardiometabólico , Valor Nutritivo , Ensaios Clínicos Controlados Aleatórios como Assunto , Adolescente , Criança , Humanos , Estudos Longitudinais , Viés de Publicação , Risco
18.
BMC Pregnancy Childbirth ; 21(1): 473, 2021 Jul 01.
Artigo em Inglês | MEDLINE | ID: mdl-34210276

RESUMO

BACKGROUND: In response to the COVID-19 pandemic, drastic measures for social distancing have been introduced also in Italy, likely with a substantial impact in delicate conditions like pregnancy and puerperium. The study aimed to investigate the changes in lifestyle, access to health services, and mental wellbeing during the first Italian lockdown in a sample of Italian pregnant women and new mothers. METHODS: We carried out a web-based survey to evaluate how pregnant women and new mothers were coping with the lockdown. We collected data about healthy habits (physical exercise and dietary habits), access to health services (care access, delivery and obstetric care, neonatal care, and breastfeeding), and mental wellbeing (psychological well-being and emotive support). Descriptive analysis was performed for both groups of participants, whereas a Poisson analysis was used to measure the association between some structural variables (age, education, socio-economic data, partner support, contact, free time, previous children, and pregnancy trimester) and anxiety or depression, difficulties in healthy eating and reduction in physical activity after lockdown started. Chi2 and Adjusted Prevalence Ratios were estimated only for pregnant women. RESULTS: We included 739 respondents (response rate 85.8 %), 600 were pregnant (81.2 %), and 139 (18.8 %) had delivered during lockdown (new mothers). We found a high score for anxiety and depression in 62.8 % of pregnant women and 61.9 % of new mothers. During the lockdown, 61.8 % of pregnant women reduced their physical exercise, and 44.3 % reported eating in a healthier way. 94.0 % of new mothers reported to have breastfed their babies during the hospital stay. Regarding the perceived impact of restrictive measures on breastfeeding, no impact was reported by 56.1 % of new mothers, whereas a negative one by 36.7 %. CONCLUSIONS: The high prevalence of anxiety and depressive symptoms in pregnant women and new mothers should be a public health issue. Clinicians might also recommend and encourage "home" physical exercise. On the other hand, about half of the sample improved their approach towards healthy eating and a very high breastfeeding rate was reported soon after birth: these data are an interesting starting point to develop new strategies for public health.


Assuntos
COVID-19/psicologia , Estilo de Vida , Saúde Mental , Mães/psicologia , Parto/psicologia , Gestantes/psicologia , Quarentena , Adulto , Ansiedade/epidemiologia , Aleitamento Materno , Depressão/epidemiologia , Dieta Saudável , Exercício Físico , Feminino , Acessibilidade aos Serviços de Saúde , Humanos , Itália/epidemiologia , Pessoa de Meia-Idade , Gravidez , SARS-CoV-2 , Adulto Jovem
19.
JMIR Pediatr Parent ; 4(3): e24791, 2021 Jul 23.
Artigo em Inglês | MEDLINE | ID: mdl-34081597

RESUMO

BACKGROUND: Since the beginning of the COVID-19 pandemic, a great number of papers have been published in the pediatric field. OBJECTIVE: We aimed to assess research around the globe on COVID-19 in the pediatric field by bibliometric analysis, identifying publication trends and topic dissemination and showing the relevance of publishing authors, institutions, and countries. METHODS: The Scopus database was comprehensively searched for all indexed documents published between January 1, 2020, and June 11, 2020, dealing with COVID-19 in the pediatric population (0-18 years). A machine learning bibliometric methodology was applied to evaluate the total number of papers and citations, journal and publication types, the top productive institutions and countries and their scientific collaboration, and core keywords. RESULTS: A total of 2301 papers were retrieved, with an average of 4.8 citations per article. Of this, 1078 (46.9%) were research articles, 436 (18.9%) were reviews, 363 (15.8%) were letters, 186 (8.1%) were editorials, 7 (0.3%) were conference papers, and 231 (10%) were categorized as others. The studies were published in 969 different journals, headed by The Lancet. The retrieved papers were published by a total of 12,657 authors from 114 countries. The most productive countries were the United States, China, and Italy. The four main clusters of keywords were pathogenesis and clinical characteristics (keyword occurrences: n=2240), public health issues (n=352), mental health (n=82), and therapeutic aspects (n=70). CONCLUSIONS: In the pediatric field, a large number of articles were published within a limited period on COVID-19, testifying to the rush to spread new findings on the topic in a timely manner. The leading authors, countries, and institutions evidently belonged to the most impacted geographical areas. A focus on the pediatric population was often included in general articles, and pediatric research about COVID-19 mainly focused on the clinical features, public health issues, and psychological impact of the disease.

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