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Despite being a standard of care for children undergoing stressful procedures, little data exist on parental perception of pediatric sedation.This study aimed to investigate recovery characteristics and parental satisfaction for pediatric sedations performed with four widely used sedative regimens.A prospective observational study was conducted at the Institute for Maternal and Child Health of Trieste, Italy, enrolling children undergoing procedural sedation with one of the following pharmacological regimens: propofol, propofol + midazolam, ketamine + propofol, and dexmedetomidine + midazolam. A questionnaire was used to assess the occurrence of symptoms upon recovery from sedation and the following day, and the caregivers' satisfaction for both the recovery pattern and the overall sedation experience, according to a numerical rating scale (0-10). Answers were collected through a telephone survey. The primary outcome was the difference in the quality of the recovery as perceived by caregivers; the secondary and tertiary outcomes were the perceived quality of the overall sedation experience and the frequency of sedation-related adverse events, respectively.Data from 655 patients, 149 receiving propofol, 245 propofol + midazolam, 134 ketamine + propofol, and 127 dexmedetomidine + midazolam, were analyzed. The level of parents' satisfaction for both the recovery and the sedation experience was overall high and increased with the patients' age in all the pharmacological groups (Spearman's rank correlation, ρ .083, p = .033, and ρ .087, p = .026, respectively), with no statistically significant differences between groups when adjusting for age. The occurrence of irritability, prolonged sleepiness, hyperactivity, unsteadiness, hallucinations, emesis, and respiratory distress at any moment negatively affected parental satisfaction.In this study, caregivers' satisfaction with pediatric sedation was high, regardless of the regimen used. Lower parental satisfaction was associated with younger age, irritability after sedation, prolonged sleepiness, hyperactivity, unsteadiness, hallucinations, emesis, and respiratory distress.

The paper reports the case of a 7-year-old boy who presented with elevated alanine and aspartate transaminases. Further investigations demonstrated elevated creatine kinase (CK), so an underlying metabolic disorder was investigated even in absence of clinical manifestations. Dried blood spot (DBS) screening test for acid α-glucosidase (AAG) enzyme activity was below normal levels and molecular genetic testing for AAG gene demonstrated pathogenic mutations. The diagnosis of late-onset Pompe disease (LOPD) was finally confirmed. Thanks to the early diagnosis, the child would be under close surveillance and would timely commence enzyme replacement therapy (ERT), improving the prognosis of the disease. The diagnostic delay in patients with LOPD is still common, namely between about 5 and 30 years. Clinicians need a high index of suspicion to recognize this condition as it is a rare disease and the heterogeneous clinical presentation can mimic the presentation of other neuromuscular disorders. Diagnostic laboratory tests are quite fast and reliable to detect the enzymatic deficiency and enzyme replacement therapy (ERT) is available and improves long-term outcomes. Thus, it is of absolute importance that clinicians should consider the possibility of LOPD in patients who present with asymptomatic hyperCKemia.

Urinary tract infections (UTIs) are among the most frequent bacterial diseases in infants and children. Physician adherence to recommendations is notoriously often poor, but no data are available on UTIs management in the emergency setting. In this multicenter national study, we investigated the policies regarding UTIs management in children aged 2 months to 3 years in Italian emergency units. Between April and June 2021, directors of the emergency units were invited to answer an online survey on the following items: diagnostic approach to children with fever without an apparent source, therapeutic approach to UTIs, the use of kidney and urinary tract ultrasound, and the criteria for hospitalization. A total of 121 (89%) out of 139 of invited units participated in the study. Overall, units manage children with a suspected or confirmed UTI according to available recommendations for most of the items. However, in almost 80% (n = 94) of units, a sterile perineal bag is used to collect urine for culture. When urine is collected by cathether, heterogeneity exists on the threshold of bacterial load considered for UTI diagnosis. Conclusions: Available recommendations on UTIs in children are followed by Italian emergency units for most of the items. However, the methods to collect urine specimens for culture, one of the crucial steps of the diagnostic work-up, often do not align with current recommendations and CFU thresholds considered for diagnosis largely vary among centers. Efforts should be addressed to validate and implement new child and family friendly urine collection techniques. What is Known:• Several guidelines are published on the management of children with suspected or confirmed urinary tract infection.• No data are available on the management of pediatric urinary tract infections in the emergency setting. What is New:• Almost 80% of the Italian emergency units employ a sterile perineal bag to collect urine for culture.• Diagnostic CFU thresholds largely vary among centers.

The case of an eleven-year-old girl with acute pelvic abdominal pain due to hematocolpos is presented. Herlyn-Werner-Wunderlich syndrome was finally diagnosed.

We describe the case of a seven-year-old child who, following the incidental finding of hypertransaminasemia in the blood tests performed for a lymphadenopathy, is subjected to other blood tests that show a persistent moderate increase in CPK values, supporting the hypothesis of a muscle disease even in the absence of specific symptoms. The diagnostic path seems to point towards a late-onset metabolic myopathy. The occasional finding of hypertransaminases , associated with the finding of high CPK levels in an asymptomatic or paucisymptomatic child, orients the diagnostic path. Excluding hepatic storage disease or viral infectious disease, the differential diagnosis leads to a complex late-onset myopathy such as Pompe disease, a rare but important diagnosis whose prognosis could be dramatically improved by the enzyme replacement therapy.

Oral ferrous salts are standard treatment for children with iron deficiency anemia (IDA). The objective of our study was to monitor oral iron therapy in children, aged 3 months-12 years, with IDA. We prospectively collected clinical and hematological data of children with IDA, from 15 AIEOP (Associazione Italiana di Ematologia ed. Oncologia Pediatrica) centers. Response was measured by the increase of Hb from baseline. Of the 107 analyzed patients, 18 received ferrous gluconate/sulfate 2 mg/kg (ferrous 2), 7 ferrous gluconate/sulfate 4 mg/kg (ferrous 4), 7 ferric iron salts 2 mg/kg (ferric), 62 bis-glycinate iron 0.45 mg/kg (glycinate), and 13 liposomal iron 0.7-1.4 mg/kg (liposomal). Increase in reticulocytes was evident at 3 days, while Hb increase appeared at 2 weeks. Gain of Hb at 2 and 8 weeks revealed a higher median increase in both ferrous 2 and ferrous 4 groups. Gastro-intestinal side effects were reported in 16% (ferrous 2), 14% (ferrous 4), 6% (glycinate), and 0 (ferric and liposomal) patients. The reticulocyte counts significantly increased after 3 days from the start of oral iron supplementation. Bis-glycinate iron formulation had a good efficacy/safety profile and offers an acceptable alternative to ferrous iron preparations.

BackgroundNo study has described factors associated with COVID-19 diagnosis in children.AimDescribe characteristics and risk factors for COVID-19 diagnosis in children tested in 20 pediatric centers across Italy.MethodsCases aged 0-18 years tested for SARS-CoV-2 between February 23 and May 24 2020 were included. Our primary analysis focused on children tested because of COVID-19 suggestive symptoms.ResultsAmong 2494 children tested for SARS-CoV-2, 2148 (86.1%) had symptoms suggestive of COVID-19. Clinical presentation of SARS-CoV-2 included - beside fever (82.4%) and respiratory signs or symptoms (60.4%) – also gastrointestinal (18.2%), neurological (18.9%), cutaneous (3.8%) and other flu-like presentations (17.8%). In multivariate analysis, factors significantly associated with SARS-CoV-2 were: exposure history (adjusted OR 39.83 95%CI 17.52-90.55 pConclusionRecommendations for SARS-CoV-2 testing in children should be updated based on the evidence of broader clinical features. Exposure history, fever, and anosmia/ageusia are strong risk factors for COVID-19 in children, while other symptoms don’t seem helping discriminating in between the SARS-CoV-2 positive and the negative cases. This study confirm that COVID-19 is a mild disease in the general population of children in Italy. Further studies are needed to understand the risk, clinical spectrum and outcomes of COVID-19 in children with specific preexisting conditions.

Background Very few studies describe factors associated with COVID-19 diagnosis in children. Aim We here describe characteristics and risk factors for COVID-19 diagnosis in children tested in 20 paediatric centres across Italy. Methods We included cases aged 0–18 years tested between 23 February and 24 May 2020. Our primary analysis focused on children tested because of symptoms/signs suggestive of COVID-19. Results Among 2,494 children tested, 2,148 (86.1%) had symptoms suggestive of COVID-19. Clinical presentation of confirmed COVID-19 cases included besides fever (82.4%) and respiratory signs or symptoms (60.4%) also gastrointestinal (18.2%), neurological (18.9%), cutaneous (3.8%) and other unspecific influenza-like presentations (17.8%). In multivariate analysis, factors significantly associated with SARS-CoV-2 positivity were: exposure history (adjusted odds ratio (AOR): 39.83; 95% confidence interval (CI): 17.52–90.55; p Conclusion Recommendations for SARS-CoV-2 testing in children should consider the evidence of broader clinical features. Exposure history, fever and anosmia/ageusia are strong risk factors in children for positive SARS-CoV-2 testing, while other symptoms did not help discriminate positive from negative individuals. This study confirms that COVID-19 was a mild disease in the general paediatric population in Italy. Further studies are needed to understand risk, clinical spectrum and outcomes of COVID-19 in children with pre-existing conditions.

Physical activity provides many benefits in patients with congenital bleeding disorders. Patients with hemophilia are encouraged to participate in exercise and sports, especially those patients receiving prophylaxis. Several publications and guidelines have explored this issue in hemophilia patients, evaluating in particular the impact of physical activity on patients' well-being and quality of life. The other rare congenital bleeding disorders are less studied; they are heterogeneous in terms of clinical bleeding phenotype, incidence of hemarthrosis, and arthropathy. Furthermore, prophylaxis in these patients is less common than in hemophilia patients, which must be considered when choosing the type of physical and sporting activity. In this review, the authors have analyzed the literature focusing their attention on those rare coagulation disorders that may be complicated by arthropathy and the role of exercise and sports in this context.

Introduction Asplenic patients are at high risk of potentially fatal invasive infections, such as sepsis, meningitis, and pneumonia. It has been shown that infection from influenza viruses can precede or increase the risk of bacterial infection and of serious complications of the underlying disease. International and national guidelines recommend annual influenza vaccination in asplenic subjects. Following the Covid-19 pandemic, the major government and medical-scientific institutions in the US and in Europe have been planning how to contain infection during the 2020-2021 influenza season. Extending influenza vaccination is the safest and most effective way to reduce the circulation of influenza virus and to promote the correct diagnosis and management of suspected cases of SARS-CoV-2. Influenza vaccination also reduces complications associated with the underlying disease and visits to Emergency Units. Our study aims to evaluate influenza vaccination in a large population of asplenic patients and explore the main causes for non-vaccination to identify critical areas for improvement in the vaccination programme in these at-risk patients for the 2020-2021 influenza season. Methods The Italian Network of Asplenia (INA) is made up of 88 doctors working in 50 clinical centers in 27 cities and 16 of the 20 regions of Italy. It aims to build a large, prospective cohort of asplenic patients throughout Italy through which to study the interaction between asplenia and its associated underlying conditions, collecting precise, accurate data also in cases of rarer diseases. The study also aims to improve the quality of healthcare for this at-risk population. The number of patients enrolled in the Network who had had at least one dose of influenza vaccine at the time of diagnosis of asplenia was retrieved from the INA database. All participating centers were asked to answer a questionnaire to report the main obstacles for influenza vaccination. Results At 1st August 2020, 1,670 patients had been enrolled in the INA (783 females; 887 males). All underlying causes of asplenia are shown in Table 1. Only 466 (28%) patients had had at least one influenza vaccination, while 1,204 (72%) had never been vaccinated since diagnosis of asplenia. Thirty-five (70%) of the 50 centers answered the questionnaire. Main causes of non-vaccination were physicians' ambivalence concerning vaccination and patients' inadequate awareness or logistical problems. Conclusions These data show very low seasonal influenza vaccination cover even though asplenic patients are considered at-risk of complications associated with infection from influenza viruses. Since the 2020-2021 influenza season could see influenza viruses in circulation with SARS-CoV-2, influenza vaccination must be expanded as widely as possible, in particular to subjects of all ages at high risk. These results reveal important areas of concern in the management of asplenic patients and the need to improve the quality of information to physicians and patients alike. The INA co-ordinating center will launch a campaign to provide information and organize ad hoc meetings to widen influenza vaccination coverage in asplenic patients and reduce the pressure on the national health service during the next influenza season. Disclosures Forni: Novartis: Membership on an entity's Board of Directors or advisory committees. Colombatti:Addmedica: Membership on an entity's Board of Directors or advisory committees; Global Blood Therapeutics: Membership on an entity's Board of Directors or advisory committees; Novartis: Consultancy, Membership on an entity's Board of Directors or advisory committees. Giona:Sanofi Genzyme: Research Funding, Speakers Bureau; Takeda: Speakers Bureau; Novartis: Research Funding. Ferrero:Janssen: Consultancy, Honoraria, Membership on an entity's Board of Directors or advisory committees, Speakers Bureau; EUSA Pharma: Honoraria, Membership on an entity's Board of Directors or advisory committees, Speakers Bureau; Gilead: Research Funding, Speakers Bureau; Servier: Speakers Bureau. Perrotta:Novartis: Consultancy, Research Funding, Speakers Bureau. Casale:Novartis: Membership on an entity's Board of Directors or advisory committees.

Detailed data on clinical presentations and outcomes of children with COVID-19 in Europe are still lacking. In this descriptive study, we report on 130 children with confirmed COVID-19 diagnosed by 28 centers (mostly hospitals), in 10 regions in Italy, during the first months of the pandemic. Among these, 67 (51.5%) had a relative with COVID-19 while 34 (26.2%) had comorbidities, with the most frequent being respiratory, cardiac, or neuromuscular chronic diseases. Overall, 98 (75.4%) had an asymptomatic or mild disease, 11 (8.5%) had moderate disease, 11 (8.5%) had a severe disease, and 9 (6.9%) had a critical presentation with infants below 6 months having significantly increased risk of critical disease severity (OR 5.6, 95% CI 1.3 to 29.1). Seventy-five (57.7%) children were hospitalized, 15 (11.5%) needed some respiratory support, and nine (6.9%) were treated in an intensive care unit. All recovered.Conclusion:This descriptive case series of children with COVID-19, mostly encompassing of cases enrolled at hospital level, suggest that COVID-19 may have a non-negligible rate of severe presentations in selected pediatric populations with a relatively high rates of comorbidities. More studies are needed to further understand the presentation and outcomes of children with COVID-19 in children with special needs. What is Known:• There is limited evidence on the clinical presentation and outcomes of children with COVID-19 in Europe, and almost no evidence on characteristics and risk factors of severe cases. What is New:• Among a case series of 130 children, mostly diagnosed at hospital level, and with a relatively high rate (26.2%) of comorbidities, about three-quarter had an asymptomatic or mild disease.• However, 57.7% were hospitalized, 11.5% needed some respiratory support, and 6.9% were treated in an intensive care unit.

Background: No study has described factors associated with COVID-19 diagnosis in children. Methods: Cases aged 0-18 years tested for SARS-CoV-2 between 23rd February and 24th May 2020 in 20 pediatric centers across Italy were analyzed. Our primary analysis aimed to explore sociodemographic and clinical characteristics and risk factors for SARS-CoV-2 in children tested because of suggestive symptoms. Findings: Among 2494 children tested for SARS-CoV-2, 2148 (86.1%) had symptoms suggestive of COVID-19, the remaining were asymptomatic children tested because of COVID-19 contact or children tested through hospital screenings. Clinical presentation of SARS-CoV-2 included -beside fever (82.4%) and respiratory signs or symptoms (60.4%) - gastrointestinal (18.2%), neurological (18.9%), cutaneous (3.8%) and other flu-like presentations (17.8%). In multivariate analysis, factors significantly associated with SARS-CoV-2 were: exposure history (adjusted OR 39.83 95%CI 17.52-90.55 p

Autoimmune hemolytic anemia (AIHA) is an uncommon disease of childhood caused by the premature destruction of erythrocytes by autoantibodies. In this rare disease both diagnostic criteria and therapeutic approaches are not well standardized. The Red Cell Working Group of the Pediatric Italian Hematogy and Oncology Association (AIEOP) developed specific recommendations to help Physicians for AIHA management. The document is available on the AIEOP website since November 1st 2013. The Italian Pediatric AIHA Group began an observational, retrospective and prospective study in order to monitor the management of children with AIHA diagnosed from 2010 to 2018, and to assess whether the availability of AIEOP recommendations had an impact on the clinical management of such patients in AIEOP Centers. We collected a national cohort of 159 children with AIHA from 21 AIEOP Centers; 48 patients were diagnosed before November 2013 and 111 patients after that date. Gender was 56% males and 44% females; median age at diagnosis was 47 months, with 11.9% under 12 months of age; 8.2% of children were born prematurely and 3.9% showed congenital malformations. 23.2 % of patients had a familiar history of immunological, hematological or oncological diseases. The median hemoglobin level at diagnosis was 6.1 gr/dL. Table 1 reports the distribution of our cases, according to the different type of autoantibodies. The comparison between the retrospective and prospective study did not reveal significative differences in clinical and biological presentation. The cold IgM forms were mainly post infective (38.4%) or primary forms (53.8%), only one patient had a secondary form due to a primitive immunodeficiency. These patients did not develop other diseases during follow up (median follow up: 28,6 months). The preliminary results of treatment and follow up of the 146 patients with warm antibody AIHA revealed the following: The treatment with conventional dose of steroids (median dose 2 mg/Kg, range 0.7- 3.5 mg/Kg) was started in 94.4% of patients, in 53% of cases on the same day of diagnosis. A high number of children used additional treatment: red blood cell transfusions (51.4%), high dose Prednisolone (59.7%), high dose i.v. Immunoglobulin (49.7%) and Plasma Exchange (1.4%). 9.5% of patients, with poor responsive disease, needed alternative drugs during the first four weeks of therapy. Response criteria were so defined: a complete response was defined as the achievement of an Hb concentration greater than or equal to the lower normal limit for age with no signs of haemolysis, i.e. normal reticulocyte count and bilirubine concentration. A partial response was defined as an increase of Hb >2 g/dL without the Hb concentration reaching a normal value for the patient age and no response as an increase of Hb< 2 g/dL and/or dependence on transfusion. A complete response was reached by 62.5%, 79.3%, 85.1% at 3, 4, 6 weeks respectively. 14.9% of patients had either a partial response or a resistant disease at 6 weeks. IgG/IgG+C3d positivity was a negative prognostic factor, as compared to positivity to C3d only, with the need of a second line treatment (prevalently Mabthera or Mycophenolate Mofetil) in 31.7% vs 0, respectively (p 0.009). Currently 6.1% of the patients were lost to follow up, 1.3% died, 55,8% are in Complete Response without events and 21.9% of the patients are still on treatment . At the last follow up, in the whole "cohort" of warm AIHA, 58% have a Primary form, 15.7% an isolated post infective form and 27.7% a Secondary form (56% Evans Syndrome). The management of the patients diagnosed after November 2013 was mostly in agreement with our recommendations, whose comprehensive therapeutic algorithm is reported in table 2, with prolonged steroid tapering in order to extend the treatment for at least 6 months. The most important difference between the retrospective and prospective study was the duration of first line treatment: 6 months or more, for steroid dependence, in 71.6% of patients in the prospective study versus 52.3% of the retrospective (p 0.031) and, more importantly, the percentage of relapsed patients: 8.3% in the prospective study versus 29.8% of the retrospective (p 0.001), these data need a longer follow up (median follow up: 24 months in the prospective study versus 63 in the retrospective) Disclosures Colombatti: Global Blood Therapeutics: Consultancy; Novartis: Consultancy; AddMedica: Consultancy.

We report on a girl affected with tuberous sclerosis, carrying a germline de novo TSC2 mutation, c.4934-4935delTT, leading to a p.F1645CfsX7, who developed a unilateral Wilms tumor (WT). Molecular investigation of the tumor biopsy at diagnosis revealed the loss of the constitutional wild-type TSC2 allele, and loss of heterozygosity for the WT1 gene. Deletion of the WTX gene was also present, but it involved the functionally inactive X chromosome. No mutation affecting the remaining WT1 and WTX alleles, as well as the CTNNB1 gene was found. Pathological examination of the surgical specimen documented the presence of diffuse anaplasia and p53 immunoreactivity. To the best of our knowledge, this is the second report of a patient with tuberous sclerosis who developed a WT, and it represents the first case in which a detailed clinical and molecular description is provided.

Hypoxia-inducible factor 2α (HIF-2α) plays a pivotal role in the balancing of oxygen requirements throughout the body. The protein is a transcription factor that modulates the expression of a wide array of genes and, in turn, controls several key processes including energy metabolism, erythropoiesis and angiogenesis. We describe here the identification of two cases of familial erythrocytosis associated with heterozygous HIF2A missense mutations, namely Ile533Val and Gly537Arg. Ile533Val is a novel mutation and represents the genetic HIF2A change nearest to Pro-531, the primary hydroxyl acceptor residue, so far identified. The Gly537Arg missense mutation has already been described in familial erythrocytosis. However, our patient is the only described case of a de novo HIF2A mutation associated with the development of congenital polycythemia. Functional in vivo studies, based on exogenous expression of hybrid HIF-2α transcription factors, indicated that these genetic alterations lead to the stabilization of HIF-2α protein. All the identified polycythemic subjects with HIF2A mutations show serum erythropoietin in the normal range, independently of the hematocrit values and phlebotomy frequency. The erythroid precursors obtained from the peripheral blood of patients showed an altered phenotype, including an increased rate of growth and a modified expression of some HIF-2α target genes. These results suggest the novel proposal that polycythemia observed in subjects with HIF2A mutations might also be due to primary changes in hematopoietic cells and not only secondary to increased erythropoietin levels. © 2013 Ferrata Storti Foundation.