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Riccardo Lubrano, MD, Francesca Soscia, MD, Marco Elli, MD, Flavia Ventriglia, MD, Claudia Raggi, MD, Elisabetta Travasso, MD, Simona Scateni, MD, Valeria Di Maio, MD, Paolo Versacci, MD, Raffaele Masciangelo, [...], OBJECTIVE. We investigated whether the combination of an angiotensin-converting enzyme inhibitor and an angiotensin II type 1 receptor antagonist offers better control of proteinuria and cardiovascular parameters without causing adverse side effects. METHODS. We enrolled 10 children (mean age: 12.3 ± 4.06 years) with proteinuria resulting from chronic renal diseases of various causes. The study consisted of 2 phases, 3 months each, for an overall 6-month observation time. During phase 1 (3 months), each child was assigned randomly to treatment with either an angiotensin-converting enzyme inhibitor or an angiotensin II type 1 receptor antagonist alone. During phase 2, each child was advanced to combination therapy with the addition of an angiotensin II type 1 receptor antagonist or an angiotensin-converting enzyme inhibitor, respectively. Renal function tests, echocardiography, and 24-hour ambulatory blood pressure monitoring were performed at the beginning of the study (time 0), at 3 months (time 1), and at 6 months (time 2). RESULTS. At time 2, proteinuria (change: -80.21 ± 10.75%), interventricular septum index (change: -13.63 ± 18.64%), posterior wall of the left ventricle index (change: -30.71 ± 20.32%), and left ventricular mass index (change: -28.33 ± 24.44%) were reduced significantly, compared with time 0 and time 1. No untoward side effects were detected during the study. CONCLUSIONS. In the short term, the combination of angiotensin-converting enzyme inhibitors and angiotensin II type 1 receptor antagonists for children with proteinuria of renal origin reduced proteinuria significantly, compared with baseline or either drug alone. Furthermore, echocardiographic studies gave evidence of reduction of left ventricular hypertrophy. Additional studies are needed to evaluate long-term results. KEYWORDS. chronic kidney disease, proteinuria, left ventricular hypertrophy, angiotensin-converting enzyme inhibitors, angiotensin II receptor antagonist.

The 4q deletion syndrome defines a disorder, which may involve patients affected by either the deletion of the interstitial region from the centromere to 4q31 or by the deletion of the terminal region from 4q31 to 4qter. Here, we describe clinical phenotypes of two unrelated children of the same age followed at the same time, with case 1 presenting with 4q interstitial and case 2 with terminal 4q deletion, and compare them each other and with those reported in the literature. Both children showed complex, heterogeneous clinical manifestations, including craniofacial features, pre-postnatal growth failure, speech and developmental delay. In case 2, thyroid and cholesterol dysfunction were also found. Analyzing these data, clinical differences between interstitial and terminal 4q deletions are scanty and no significant phenotype differences were found between the 4q regions deleted as observed in the comparison of the two children and the related cases of the literature. The term 4q deletion syndrome - inclusive for both the interstitial and terminal 4q regions deleted - seems to be appropriate. To note, the dysfunction of cholesterol metabolism and thyroid presented by case 2 may be clinically worthwhile, whether confirmed by other observations. [ABSTRACT FROM AUTHOR]

Background: Although children with special health care needs (CSHCN) represent a minority of the population, they go through more hospitalizations, more admissions to the Emergency Department (ED), and receive a major number of medical prescriptions, in comparison to general pediatric population. Objectives of the study were to determine the reasons for admission to the ED in Italian CSHCN, and to describe the association between patient's demographic data, clinical history, and health services requirements. Methods: Ad hoc web site was created to collect retrospective data of 3479 visits of CSHCN to the ED in 58 Italian Hospitals. Results: Seventy-two percent of patients admitted to ED were affected by a previously defined medical condition. Most of the ED admissions were children with syndromic conditions (54%). 44.2% of the ED admissions were registered during the night-time and/or at the weekends. The hospitalization rate was of 45.6% among patients admitted to the ED. The most common reason for admission to the ED was the presence of respiratory symptoms (26.6%), followed by gastrointestinal problems (21.3%) and neurological disorders (18.2%). 51.4% of the access were classified as 'urgent', with a red/yellow triage code. Considering the type of ED, 61.9% of the visits were conducted at the Pediatric EDs (PedEDs), 33.5% at the Functional EDs (FunEDs) and 4.6% at the Dedicated EDs (DedEDs). Patients with more complex clinical presentation were more likely to be evaluated at the PedEDs. CSHCN underwent to a higher number of medical procedures at the PedEDs, more in comparison to other EDs. Children with medical devices were directed to a PedED quite exclusively when in need for medical attention. Subjects under multiple anti-epileptic drug therapy attended to PedEDs or FunEDs generally. Patients affected by metabolic diseases were more likely to look for medical attention at FunEDs. Syndromic patients mostly required medical attention at the DedEDs. Conclusions: Access of CSHCN to an ED is not infrequent. For this reason, it is fundamental for pediatricians working in any kind of ED to increase their general knowledge about CHSCN and to gain expertise in the management of such patients and their related medical complexity. [ABSTRACT FROM AUTHOR]

Background: Recently, the development of advanced, noninvasive methods has allowed the study of respiratory function even in uncooperative infants. To date, there is still little data on the application of this technique in infants with suspected airway obstruction. The aims of our study were: - To evaluate the role of respiratory function testing (PFR) in the diagnosis and follow-up of infants with stridor - To evaluate the differences between patients with inspiratory stridor and expiratory stridor. - To evaluate the concordance between PFR and endoscopy. Methods: We enrolled infants aged < 1 year with a diagnosis of inspiratory and/or expiratory chronic stridor and a group of healthy controls. For each patient we performed PFR at diagnosis (T0) and for cases at follow-up, at 3 months (T1), 6 months (T2), 12 months (T3). At T0, all patients were classified according to a clinical score, and at follow-up, stature-ponderal growth was assessed. When clinically indicated, patients underwent bronchoscopy. Results: We enrolled 48 cases (42 diagnosed with inspiratory stridor and 6 expiratory stridor) and 26 healthy controls. At T0, patients with stridor had increased inspiratory time (p < 0.0001) and expiratory time (p < 0.001) than healthy controls and abnormal curve morphology depending on the type of stridor. At T0, patients with expiratory stridor had a reduced Peak expiratory flow (p < 0.023) and a longer expiratory time (p < 0.004) than patients with inspiratory stridor. We showed an excellent concordance between PFR and endoscopic examination (k = 0.885, p < 0.0001). At follow-up, we showed a progressive increase of the respiratory parameters in line with the growth. Conclusions: PFR could help improve the management of these patients through rapid and noninvasive diagnosis, careful monitoring, and early detection of those most at risk. [ABSTRACT FROM AUTHOR]

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. [ABSTRACT FROM AUTHOR]

Coronavirus disease 2019 (COVID-19) has been chiefly linked with substantial respiratory complications. However, emerging studies have brought attention to the occurrence of severe muscle inflammation (myositis) related to COVID-19, potentially leading to multi-organ failure and increased mortality. Myositis is generally characterized by heightened serum creatine kinase (CK) levels. Acute myositis is characterized by an infiltration of viruses into calf muscle fibers, which may cause a subsequent inflammatory response leading to calf muscle pain. Symptomatic and supportive management, along with explanation and reassurance, is all that is required in managing this condition. While the association between myositis and severe outcomes has been recognized in adults, it remains less understood in the pediatric population. The current retrospective study, conducted at Policlinico San Marco University Hospital in Catania, aimed to analyze clinical and laboratory factors associated with myositis in pediatric patients with SARS-CoV-2 infection. Between January 2022 and January 2023, ten pediatric patients diagnosed with myositis and SARS-CoV-2 infection were evaluated. The study highlighted clinical manifestations such as fever, calf muscle pain, and abnormal gait. Lab results showed elevated CK levels among other findings. All patients underwent treatment, with the majority recovering without complications. A notable correlation was observed between CK levels, blood urea nitrogen (BUN), and the urea/creatinine ratio (UCR). The study also discusses potential pathophysiological mechanisms behind SARS-CoV-2's impact on skeletal muscles, emphasizing an indirect inflammatory response. Our findings underscore that while myositis in children with SARS-CoV-2 infection appears to follow a benign and self-limiting trajectory, it is crucial to monitor specific markers for early intervention and management. Further research is warranted to elucidate the underlying mechanisms and improve clinical outcomes. [ABSTRACT FROM AUTHOR]

X-linked hypophosphatemia is a genetic condition that leads to fibroblast-growth-factor 23 (FGF23) increase, causing phosphate renal wasting. Since 2018, burosumab, an anti-FGF23 antibody, has been used for this disease with different dosage in children and adults. We report the case of burosumab administration every 2 weeks, as usually done in children. We retrospectively evaluated parathormone (PTH), alkaline phosphatase, serum phosphate, tubular reabsorption of phosphate (TRP), and 25OH vitamin D every 2 weeks in a 29-year-old man with nephrocalcinosis and tertiary hyperparathyroidism who did not respond to standard treatment with burosumab nor to maximum dosage and was treated with burosumab 90 mg every 2 weeks. His serum phosphate and TRP increased with this regimen compared with 4 weeks frequency (respectively 1.74 ± 0.26 mg/dL vs. 2.3 ± 0.19 mg/dL [p 0.0004] and 71.3% ± 4.8% vs. 83.9% ± 7.9% [p 0.01]) with decrease in PTH (183 ± 24.7 pg/mL vs. 109 ± 12.2 pg/mL [p 0.04]). Burosumab may be a good choice in adult patients with X-linked hypophosphatemia; new data are needed regarding the increase in dosage and/or frequency of administration as usually done in children, to achieve disease control. [ABSTRACT FROM AUTHOR]

Point-of-care thoracic ultrasound at the patient's bedside has increased significantly recently, especially in pediatric settings. Its low cost, rapidity, simplicity, and repeatability make it a practical examination to guide diagnosis and treatment choices, especially in pediatric emergency departments. The fields of application of this innovative imaging method are many and include primarily the study of lungs but also that of the heart, diaphragm, and vessels. This manuscript aims to describe the most important evidence for using thoracic ultrasound in the pediatric emergency setting. [ABSTRACT FROM AUTHOR]

FIRES is defined as a disorder that requires a prior febrile infection starting between 2 weeks and 24 h before the onset of the refractory status epilepticus with or without fever at the onset of status epilepticus. The patients, previously normal, present in the acute phase recurrent seizures and status epilepticus followed by a severe course with usually persistent seizures and residual cognitive impairment. Boundary with "new onset refractory status epilepticus (NORSE) has not clearly established. Pathogenetic hypothesis includes inflammatory or autoimmune mechanism with a possible genetic predisposition for an immune response dysfunction. Various types of treatment have been proposed for the treatment of the acute phase of the disorder to block the rapid seizures evolution to status epilepticus and to treat status epilepticus itself. Prognosis is usually severe both for control of the seizures and for cognitive involvement. FIRES is an uncommon but severe disorder which must be carefully considered in the differential diagnosis with other epileptic encephalopathy. [ABSTRACT FROM AUTHOR]

Objective: To evaluate growth, glomerular and tubular function, renal damage, scars in children affected by primary VUR.Methods: We retrospectively evaluated the clinical records of our Unit from January 2006 to September 2020. For each patient we evaluated growth, laboratoristic and scintigraphic glomerular and tubular function, renal damage and collective system urodynamics at baseline and at the last visit.Results: We enrolled 41 patients affected by primary VUR and treated with continuous antibiotic prophylaxis. Glomerular function and urodynamics did not change over time. EFNa directly correlated with weight (r 0.44 P .004) and TRP inversely correlated with severity of reflux (r -0.32, P .04). Female sex was associated to nephrolithiasis (OR 17.0, P .02) and proteinuria (at T0 OR 5.8 P .03 at T1 OR 5.8, P .03). Daily proteinuria increased with age (r 0.66, P <.0001 at T0 and r 0.44 P .004 at T1) while protein-to-creatinine ratio decreased. Renal scars at T0 inversely correlated with glomerular and tubular function at T1 but they did not correlate with severity or laterality of reflux.Conclusion: Even if renal function remains stable through years, it is critical to identify the subjects with significant congenital renal damage. [ABSTRACT FROM AUTHOR]

Summary Background Zoonoses are human infectious diseases caused by pathogens that primarily infect animals. Mediterranean Spotted Fever (MSF) represents one such example, affecting the Mediterranean region, in which household animals can be immune-carriers of infected ticks. Materials and methods We retrospectively analysed the incidence and the clinical and laboratory features of MSF caused by R.Conorii in children admitted to the Paediatric Operative Unit from 1987 to 2010, for persistent fever and generalised macular-popular erythematous lesions. Clinical, immunological and serological parameters of 55 cases of Rickettsia infections observed in children between 2 and 11 years of age were collected. Results We found an increasing incidence of MSF in childhood from 1987 to 2010. Diagnosis of MSF at the moment of hospital admission was done in 16 patients (29.09%). The presence of the typical Tache noire was observed in 16 cases out of 55 patients (29.09% of cases). We noticed a different representation of R. conorii antigens in serological testing over the time period of the study, corresponding to overall higher incidence rates for infection in the latter years. We also observed a higher incidence of infection in those years in which all four antigens were found positive at serum testing with respect to those years in which only two of the four antigens were observed (1987-1990: 0-16%; 2007-2010: 0.46%; P<0.005). Conclusions These changes in R. conorii antigenicity may be the cause of higher pathogenicity in this parasite, perhaps linked to increased immigration along with consequent changes in the epidemiology of infectious diseases in host countries. [ABSTRACT FROM AUTHOR]

Since the outbreak of SARS-CoV-2 among the population has occurred quite recently, there is a lack of evidence on the long-term duration of antibody response, especially in children. It is therefore crucial to clarify this aspect, considering its implications in the development of successful surveillance strategies, therapies, and vaccinations. The aim of this study was to assess the antibody response in a children group after SARS-CoV-2 infection, and to compare it with that of their parents affected by SARS-CoV-2 infection. We enrolled 12 children and their parents, both groups being affected by COVID-19 in April 2020. In the children's group, we collected real-time RT-PCR cycle threshold (Ct) values and gene characterization of first nasal-throat swab at the time of diagnosis (T0); 30 days after the diagnosis (T30), we performed blood tests to detect anti-SARS-CoV-2 IgM and IgG. Finally, 180 days after the diagnosis (T180), we measured anti-SARS-CoV-2 IgG in both children and parents. In children, antibody levels declined significantly at 180 days (T180) after first measurement (T30). There were no significant differences in IgG level related to age, sex, and clinical manifestations. We found a significant correlation between IgG titers at T30 and Ct value of gene N. Children showed a lower level of antibodies against SARS-CoV-2 at T180 compared to their parents. Conclusion: Antibody responses in children waned 180 days after SARS-CoV-2 infection, and at the same time, their parents showed a different antibody response to the virus. These results highlight that serological tests should be used with caution in surveillance strategies among the general population. What is known: • Currently is not known how long antibody response will be maintained or if it protects from reinfection. • Recent reports in adults suggest that antibodies to SARS-CoV-2 declined several months after infection, but data are missing in pediatric age. What is new: • We showed that antibody responses to SARS-CoV-2 wane several months after infection also in children with quantitative differences in antibody levels between children and adults. • In this context, serological tests should be used with caution in surveillance strategies. [ABSTRACT FROM AUTHOR]

Background: Since last year, COVID-19, the disease caused by the novel Sars-Cov-2 virus, has been globally spread to all the world. COVID-19 infection among pregnant women has been described. However, transplacental transmission of Sars-Cov-2 virus from infected mother to the newborn is not yet established. The appropriate management of infants born to mothers with confirmed or suspected COVID-19 and the start of early breastfeeding are being debated. Case presentation: We report a case of the joint management of a healthy neonate with his mother tested positive for Covid-19 before the delivery and throughout neonatal follow-up. The infection transmission from the mother to her baby is not described, even after a long period of contact between them and breastfeeding. Conclusion: It may consider an appropriate practice to keep mother and her newborn infant together in order to facilitate their contact and to encourage breastfeeding, although integration with infection prevention measures is needed. [ABSTRACT FROM AUTHOR]

Background: A national consensus document on inhaled corticosteroids (ICS) use in childhood, produced by the main Italian pediatric scientific societies, has been recently released. The aim of this study was to gather information on the current pediatricians' ICS prescription habits in Italy for the management of the most common pediatric respiratory diseases, namely allergic rhinitis (AR), asthma, preschool wheezing and laryngitis. Methods: From the 1st October 2018 to the 31st January 2019 a link to an online questionnaire was sent monthly through a newsletter to the members of the Italian Society of Pediatrics. The questionnaire included 18 items on ICS use in the most common pediatric respiratory diseases. Data collection and reporting was based on STROBE Statement Checklist for cross-sectional studies. Results: One thousand-two questionnaires were returned from primary care pediatricians (39.1%), hospital pediatricians (38.7%), private practicers (16.4%), university pediatricians (3.1%) and Pediatrics residents (2.7%). We found a good adherence to the international guidelines on AR, with prevalent use of oral antihistamine (60.6%) in the secretive phenotype and nasal ICS in the obstructive phenotype (64.8%). In asthma exacerbations ICS are not used in 53.4% of cases, but they are used at high dose in 27.9% and at low dose in 18.7% of cases. In intermittent asthma, ICS are not chosen as a daily controller therapy in 54.1% of cases, while they are chosen as a low dose daily therapy in 44.5% of cases (high dose in 1.4%). In children with persistent asthma, ICS are chosen as a daily low dose therapy in 67.4% of cases and as a daily high dose therapy in 31%. In the management of preschool wheezing, when a long-term treatment is needed, ICS are chosen both alone and in association with antileukotrienes in 71.4% of cases. Children affected by recurrent asthma exacerbations and wheezing are closely followed up, in particular by their primary care pediatricians. The preference for certain molecules in the treatment of different respiratory diseases also emerged. Conclusions: Pediatricians' ICS prescription habits in Italy should be improved, especially in the management of asthma. Future surveys on a more numerous sample will be useful to analyze differences in prescription habits on the basis of pediatricians' work settings and geographical distribution. [ABSTRACT FROM AUTHOR]

Aim Febrile seizures (FS) involve 2–5% of the paediatric population, among which Complex FS (CFS) account for one third of accesses for FS in Emergency Departments (EDs). The aim of our study was to define the epidemiology, the clinical, diagnostic and therapeutic approach to FS and CFSs in the Italian EDs. Methods A multicenter prospective observational study was performed between April 2014 and March 2015. Patients between 1 and 60 months of age, randomly accessing to ED for ongoing FS or reported FS at home were included. Demographic features and diagnostic-therapeutic follow-up were recorded. FS were categorized in simple (<10 min), prolonged (10–30 min) and status epilepticus (>30 min). Results The study population consisted of 268 children. Most of the children experienced simple FS (71.65%). Among the 68 (25.37%) patients with complex FS, 11 were 6–12 month-old, accounting for 45.83% of all the infants with FS in the younger age group. No therapy has been administered at home in 76.12% patients; 23.51% of them received endorectal diazepam and only 1 patient received buccal midazolam. At arrival at ED, no therapy was necessary for 70.52% patients; 50.63% received endorectal diazepam and 17.72% an i.v. bolus of midazolam. Blood tests and acid-base balanced were performed respectively in 82.09% of cases. An electroencephalogram at ED was performed in 21.64% of patients. Neuroimagings were done in 3.73% of cases. A neurologic consultation was asked for 36 patients (13.43%). Conclusion this is the first study assessing epidemiologic characteristics of FS in the Italian pediatric population, evidencing a higher prevalence of CFSs in children younger than 12 months of age and opening a new research scenario on the blood brain barrier vulnerability. On a national level, our study showed the need for a diagnostic standardized work-up to improve the cost/benefit ratio on CFS management. [ABSTRACT FROM AUTHOR]