Meyer Children Research Articles

Development, implementation, and evaluation of a 3D‐printed high‐fidelity pediatric mannequin with expected hard‐to‐intubate airway

AbstractClinical simulation is fundamental for the healthcare staff to learn and enhance their procedural skills without causing harm to the patients. Despite its importance, in literature appears a deficiency of pediatric pathological mannequins, especially those simulating difficult airway management due to the obstruction of the passage of tubes, fiberscopes, or catheters. Given the importance of simulating complex scenarios in the medical staff's training, the authors decided to realize a modular high‐fidelity pathological mannequin with nasal access using reverse engineering and additive manufacturing techniques within T3Ddy, a joint laboratory between Meyer Children's Hospital of Florence and the Department of Industrial Engineering of the University of Florence. The mannequin is developed from diagnostic images of a significant 30‐month‐old polymalformative patient also affected by Pierre‐Robin syndrome modifying the tracheobronchial tree to reproduce an abnormal status. Rigid parts and silicone cast molds are manufactured using 3D‐printed ABS/ASA while platinum‐cure‐silicones are used for the soft ones. Meyer's anesthesiologists collaborated to the realization providing feedback during design and production. The device is evaluated with a 5‐point Likert scale questionnaire and results in a useful tool for the training of procedural skills related to difficult intubation as its realism, anatomical geometry, and tactic feedback are positively evaluated.

Impact of respiratory syncytial virus on older children: Exploring the potential for preventive strategies beyond the age of 2 years

ObjectiveRespiratory syncytial virus (RSV) causes significant lower respiratory tract infections (LRTIs) in infants and young children. Current prevention targets those under 2 years. This study aims to evaluate RSV patterns and severity in children older than 2 years and to explore the potential extension of preventive strategies to this demographic group. MethodsAn observational retrospective study at Meyer Children’s Hospital (from October 2019 to March 2023) analyzed data from patients between 28 days and 18 years of age with RSV infection. Severity indicators and patient characteristics were compared between two age groups: under 2 years and 2 years and above. Results584 infants and young children were hospitalized due to RSV infection. Epidemic seasons saw a rise in hospitalizations among children older than 2 years. Older children had higher comorbidity (41% versus 9% p=0.000) and prematurity (26% versus 14% p = 0.001) rates than those under 2 years. ConclusionThe study highlights the increased risk of severe RSV LRTIs in children older than 2 years and with prematurity or comorbidities, overlooked by current preventive measures. Prospective studies and cost-effectiveness analyses are needed to determine the necessity of targeted immunization for older children with specific risk factors, aiming to reduce RSV-related morbidity and mortality.

OTHR-05. ROLES OF GEMCITABINE-OXALIPLATIN (GEMOX) ADD-ON THERAPY IN INFANT-TYPE BRAIN TUMORS: A SINGLE CENTER EXPERIENCE

Abstract BACKGROUND Combined gemcitabine and oxaliplatin (GemOx) was evaluated in recurrent pediatric solid tumors, showing safety but limited activity. In neuro-oncological infant patients, chemotherapy intensified to high doses (HDC) represents the cornerstone, avoiding radiotherapy toxicities. We describe the roles of GemOx towards autologous transplantation in infant-type brain tumors. METHODS From May 2017 to January 2024, at the Meyer Children’s Hospital IRCCS in Florence, six children (median age 19 months, sex equally distributed, three high-grade gliomas, a metastatic medulloblastoma MM, a pineoblastoma, a choroid plexus carcinoma CPC) completed GemOx after induction chemotherapy delivered according to Italian program for malignant brain tumors under 3 years. GemOx was administered to achieve clinical and neuroradiological permissiveness to HDC and to raise the possibility of second look neurosurgery. RESULTS Gemcitabine 1000 mg/m2 and Oxaliplatin 100 mg/m2 were given every 14-28 days for 1-6 cycles. At re-assessment, maximum every four cycles, disease control was optimal (five stable diseases and one partial response according to RECIST criteria). After GemOx, one patient was also subjected to further neurosurgery. The treatment was overall well tolerated, except for Common Terminology Criteria for Adverse Events (CTCAE) grade 4 platelet toxicity in two patients (one of whom also developed hydrocephalus CTCAE 3 and hyponatremia CTCAE 4 during treatment). All patients were safely exposed to HDC (1-2 courses). MM and CPC patients progressed respectively 4 ad 19 months after the end of GemOx. The latter underwent second look neurosurgery, and a radiotherapy course was delivered to both, considering the achievement of permissive age. To date all patients are alive. CONCLUSIONS In brain infant-type malignant tumors strategies are limited due to the extremely vulnerable age. GemOx treatment should be considered a reasonable and safe option waiting for intensified treatment, especially in radiotherapy delaying programs, and it should result incisive in the therapeutic or palliative choice.

Long-term outcome and prognosis of mixed histiocytosis (Erdheim-Chester disease and Langerhans Cell Histiocytosis)

Erdheim-Chester disease (ECD) is a rare histiocytosis that may overlap with Langerhans Cell Histiocytosis (LCH). This "mixed" entity is poorly characterized. We here investigated the clinical phenotype, outcome, and prognostic factors of a large cohort of patients with mixed ECD-LCH. This retrospective study was performed at two referral centers in France and Italy (Pitié-Salpêtrière Hospital, Paris; Meyer Children's Hospital, Florence). We included children and adults with ECD diagnosed in 2000-2022 who had biopsy-proven LCH, available data on clinical presentation, treatment and outcome, and a minimum follow-up of one year. Outcomes included differences in clinical presentation and survival between mixed ECD-LCH and isolated ECD; we also investigated response to treatments and predictors of survival in the mixed cohort. Survival was analyzed using the Kaplan-Maier method and differences in survival with the long-rank test. Cox regression models were used to evaluate the potential impact of age and gender on survival and to identify predictors of non-response and survival. Out of a cohort of 502 ECD patients, 69 (14%) had mixed ECD-LCH. Compared to isolated ECD, mixed ECD-LCH occurred more frequently in females (51 vs. 26%, p<0.001) and in patients with multisystem disease (≥4 sites). Mixed ECD-LCH more frequently involved long bones (91 vs. 79%, p=0.014), central nervous system (51vs. 34%, p=0.007), facial/orbit (52 vs. 38%, p=0.031), lungs (43 vs. 28%, p=0.009), hypothalamic/pituitary axis (51 vs. 26%, p<0.001), skin (61 vs. 29%, p<0.001), and lymph nodes (15 vs. 7%, p=0.028); the BRAFV600E mutation was also more frequent in mixed ECD-LCH (81 vs. 59%, p<0.001). Targeted treatments (BRAF and/or MEK inhibitors) induced response more frequently than conventional therapies (interferon-α, chemotherapy), either as first-line (77 vs. 29%, p<0.001) or as any line (75 vs. 24%, p<0.001). After a median follow-up of 71 months, 24patients (35%) died. Survival probability was comparable between ECD alone and mixed ECD-LCH (log-rank p=0.948). At multivariable analysis, age at diagnosis (HR 1.052, 95% CI 1.008-1.096), associated hematologic conditions (HR 3.030, 95% CI 1.040-8.827), and treatment failure (HR 9.736, 95% CI 2.919-32.481) were associated with an increased risk of death, while lytic bone lesions with a lower risk (HR 0.116, 95% CI 0.031-0.432). Mixed ECD-LCH is a multisystem disease driven by the BRAFV600E mutation and targeted treatments are effective. Age at diagnosis, bone lesion patterns, associated hematologic conditions, and treatment failure are the main predictors of death in mixed ECD-LCH. None.

Epidemiology of respiratory syncytial virus in hospitalized children over a 9-year period and preventive strategy impact.

Background: Respiratory Syncytial Virus (RSV) is the primary cause of respiratory infections and hospitalizations in young children globally, leading to substantial disease burden and mortality. The aim of the present study was to review and provide updates on how the SARS-CoV-2 pandemic have significantly influenced RSV epidemiology on hospitalized children due to RSV infection. A potential impact of the available preventive strategies on the same population were provided. Methods: All children aged 0-6years hospitalized at Meyer Children's Hospital IRCCS for RSV infection from September 2014 to March 2023 were retrospectively recorded. Seasonal trends before and after SARS-CoV-2 pandemic, age distribution, ICU admission and co-infections, comorbidities and prematurity were retrieved. Predictions on the number of hospitalizations avoided by the deployment of different preventive strategies were provided. Results: A total of 1,262 children with RSV infection were included in the study. The 70% of them had less than 1 year-of-age at the moment of hospitalization and almost 50% less than 3months. In the post-pandemic seasons, a 317% increase in the number of hospitalizations was recorded with a significant increase in older children compared to the pre-pandemic seasons. ICU support was required for 22% of children, the majority of whom were under 3months of age. Almost 16% of hospitalized children were born preterm and only 27% of hospitalized children had prior comorbidities. The rate of comorbidities among RSV hospitalized children increased with age. Nirsevimab prophylaxis could have prevented more than 46% of hospitalizations in this cohort. A preventive strategy addressing also children aged 7months to 6years of age with co-existing comorbidities would increase that rate above 57%. Discussion: The identification of RSV hospitalization-related features is informing the decision-maker for the deployment of the wisest preventive approach on a population scale.

Safety and efficacy of biologic immunosuppressive treatment in juvenile idiopathic arthritis associated with inborn errors of immunity.

This study aims to describe clinical features, therapeutic outcomes, and safety profiles in patients affected by juvenile idiopathic arthritis (JIA) and inborn errors of immunity (IEI) treated with biological Disease-modifying antirheumatic drugs (DMARDs). We enrolled three patients who were followed in the Pediatric Rheumatology Unit at Meyer Children's Hospital in Florence; these patients were affected by JIA, according to ILAR criteria, and IEI, according to the IUIS Phenotypical Classification for Human Inborn Errors of Immunity. Among them, two patients had 22q11.2 deletion syndrome (22q11.2DS) and one patient had X-linked agammaglobulinemia (XLA). Case 1: A 6-year and 2-month-old boy was affected by 22q11.2DS, associated with oligoarticular JIA, at the age of 2 years. He was treated with non-steroidal anti-inflammatory drugs (NSAIDs) and methotrexate, along with oral glucocorticoids but with no benefits. Treatment with etanercept allowed him to achieve remission after 10 months. Case 2: A 6-year and 2-month-old girl was affected by 22q11.2DS, associated with oligoarticular JIA, at the age of 3 years and 11 months. She was treated with NSAIDs, joint injections, and methotrexate but without clinical response. Treatment with Adalimumab allowed her to achieve remission after 6 months. Case 3: A 12-year and 2-month-old boy was affected by XLA, associated with polyarticular JIA, at the age of 9 years and 11 months. He was treated with NSAIDs, methotrexate, joint injections, and oral glucocorticoids with no benefits. He failed to respond to anti-TNF-alpha, tocilizumab, and abatacept. Currently, he is undergoing therapy with sirolimus plus abatacept, which allowed him to achieve remission after 4 months. Results suggest that the use of immunosuppressive biological therapies can control disease activity in these patients. No adverse drug-related reactions were observed during the follow-up.

How to become a teacher in the hospital: acquiring knowledge and skills through experience

ABSTRACT A hospital-based school is offered to hospitalised children with the aim of promoting school continuity and preventing disengagement from school; children have the chance to attend a hospital-based school with hospital teachers during long recoveries. The aim of this study is to obtain an in-depth understanding of hospital teaching: which training hospital teachers receive before teaching the hospitalised children and how they work with children in a hospital-based school (i.e. didactical methodologies, student’s knowledge evaluation, etc.)? Twenty hospital teachers (N = 2, males; N = 18, females) from the Meyer Children’s Hospital in Florence took part in an ad hoc semi-structured interview. The thematic analysis through QCAmap highlighted the following aspects: training of hospital teachers is various; no teacher had previously taught in a hospital or had taken part in specific trainings about hospital settings before becoming a hospital teacher; not only didactic but also medical skills are needed; a hospital context requires extremely flexible and personalised teaching and hospital teachers think that the connection with the class group is an important opportunity for the hospitalised child. In the future, it will be necessary to adequately train hospital teachers to carry out this delicate work with the hospitalised children.

Extrapulmonary and Drug-Resistant Childhood Tuberculosis: Unveiling the Disease to Adopt the Optimal Treatment Strategy.

Paediatric tuberculosis (TB) is a substantial threat among infectious diseases, particularly considering the high risk of extrapulmonary tuberculosis (EPTB), severe forms of the disease, and the spreading of drug-resistant strains. Describing the characteristics of children with EPTB and those with drug-resistant tuberculosis (DR-TB) and analysing the role of second-line drugs could facilitate the management of these cases. This retrospective study was conducted on 271 children diagnosed with active TB disease (44 EPTB cases, 9 DR-TB cases), originating from diverse geographic areas, who were referred to the infectious disease unit at Meyer Children's Hospital, Florence, Italy, from 2006 to 2022. In most patients, the management of therapies was complicated by the impossibility to obtain drug susceptibility testing (DST) results, which improved over the years: 17/154 (11.04%) children had DST results between 2006 and 2013, and 50/117 (42.73%, p < 0.001) between 2014 and 2022. Second-line drugs were not exclusively administered to DR-TB cases, but also to EPTB cases (20/44, 45.45%). Drugs were generally well tolerated; adverse events occurred in 13 children (13/271, 4.80%) and were generally mild and reversable. Therapies were successful in 267 children (98.52%) considered cured, while 4 (1.48%) presented sequelae. Both univariate and multivariate logistic regression analyses were conducted to investigate factors associated with EPTB, DR-TB, and second-line drugs administration. Originating from Asia emerged as a risk factor associated with both EPTB and DR-TB (p = 0.013 and p = 0.045, respectively). The introduction of GeneXpert tests has significantly improved TB diagnosis and the obtaining of DST results. The administration of second-line therapies should be limited primarily to DR-TB cases, but it is possible that these drugs may also be beneficial in selected EPTB cases.

P04.03.B VENOUS THROMBOEMBOLISM AND OTHER VASCULAR COMPLICATIONS IN PAEDIATRIC PATIENTS FOLLOWING CRANIOPHARYNGIOMA SURGERY: A SINGLE-CENTER, RETROSPECTIVE STUDY

Abstract BACKGROUND Craniopharyngioma (CP), although slow growing and histologically benign, carries considerable morbidity, particularly in the postoperative period: hypothalamus-pituitary dysfunction and electrolyte disorders represent common complications. Moreover, in these patients, the increased risk of deep venous thrombosis (DVT) and the possible development of fusiform intracranial aneurysms are well known. However, data are still poor, especially in the pediatric population. The aim of our study was to describe the occurrence and timing of DVT and other vascular alterations in neurosurgical operated CP patients and to evaluate the role of predisposing factors in the development of post-surgical and late vascular events. MATERIAL AND METHODS This was a single-center, retrospective study. We investigated 19 patients (11 males, 8 females, mean age 10.47±4.29) diagnosed with CP, who had been subjected to neurosurgery between December 2016 and August 2022 in Meyer Children’s Hospital IRCCS in Florence. Demographic and clinical characteristics and surgical data were recorded for each participant. RESULTS Five patients (26.3%, 3 females, 2 males, median age 15 years) presented vascular events, all during sodium imbalance. Calcium at lower limits was detected in four of them. Three DVT (two with associated pulmonary embolism, including one female patient’s death) developed after surgery, more frequently at 7-10 days (two patients were central catheter carriers, one obese patient showed hypercholesterolemia and hypertriglyceridemia). In a patient in hyponatraemic state a vascular parietal alteration compatible with pseudoaneurysm was described soon after neurosurgery, requiring vascular stenting and prolonged intensive care. Superficial vein thrombophlebitis was a late complication in an overweight female patient on estrogenic replacement therapy. CONCLUSION Patients with CP undergoing neurosurgical brain tumor resection are at a higher risk of developing DVT and vascular alterations, thus careful follow-up should be done in these patients. In our study, we found that the phase of transition from central diabetes insipidus (CDI) to syndrome of inappropriate antidiuretic hormone secretion (SIADH) is probably a significative time for developing this complication; so, we recommend careful monitoring of symptoms suggestive of vascular events in CP operated patients. However, we suggest the execution of a deep vein ultrasound examination in the post-neurosurgical two-four weeks for an early diagnosis of this problem for reducing the risk of severe complications.

Autologous Ear Reconstruction and 3D Printing, an Innovative Hybrid Surgical-engineering Reconstructive Approach for Custom-made Ear Models: Our Experience

Background: Microtia is a congenital anomaly of the ear. We present an innovative technique using a 3D personalized framework that could simplify and standardize the sculpting phase, thanks to reverse engineering and additive manufacturing techniques. Methods: Three-dimensional models were realized by T3Ddy, a joint laboratory between the department of industrial engineering and Meyer Children’s Hospital. Data were obtained retrospectively and included patient demographics, primary diagnosis, side of the affected ear, microtia classification, surgical time, length of hospitalization, type of skin approach and framework, complications, aesthetic results, and level of satisfaction using specific questionnaires. Data are reported as median and IQR. Results: A total of 17 children (female gender: four) underwent auricular reconstruction surgery with autologous cartilage in our center, between 2019 and 2022. Median age at surgery was 14 years [interquartile range (IQR), 13–17], and the median hospitalization length was 5 days (IQR, 3–5). Median surgical time was 420 minutes (IQR, 406–452). Complications occurred in four patients out of 19 procedures, with a complication rate of 21%. Aesthetic results were satisfactory in all cases. Conclusions: The three-dimensional models allow for an intuitive and precise approach. Having developed specific models for each component of the framework, we aimed to improve the aesthetic result and simplify the surgical intervention, guaranteeing a standardized yet personalized experience for each patient. The interprofessional partnership is fundamental to achieving this result.

Mycophenolate mofetil as induction and long-term maintenance therapy in childhood cerebral vasculitis: a case series.

Journal Article Accepted manuscript Mycophenolate Mofetil as induction and long-term maintenance therapy in childhood cerebral vasculitis: a case series Get access Ilaria Pagnini, Ilaria Pagnini NEUROFARBA Department, Rheumatology Unit, Meyer Children's Hospital IRCCS, University of Florence, Florence, Italy Search for other works by this author on: Oxford Academic PubMed Google Scholar Marzia Mortilla, Marzia Mortilla Meyer Children’s Hospital IRCCS, Florence, ItalyRadiology Search for other works by this author on: Oxford Academic PubMed Google Scholar Diletta Gentile, Diletta Gentile Neuroscience Department, Meyer Children’s Hospital IRCCS, University of Florence, Florence, Italy Search for other works by this author on: Oxford Academic PubMed Google Scholar Ilaria Maccora, Ilaria Maccora NEUROFARBA Department, Rheumatology Unit, Meyer Children's Hospital IRCCS, University of Florence, Florence, Italy Search for other works by this author on: Oxford Academic PubMed Google Scholar Sarah Abu-Rumeileh, Sarah Abu-Rumeileh NEUROFARBA Department, Rheumatology Unit, Meyer Children's Hospital IRCCS, University of Florence, Florence, Italy Search for other works by this author on: Oxford Academic PubMed Google Scholar Nicola Limbucci, Nicola Limbucci Interventional Neurovascular Unit, A.O.U. Careggi, Italy, Florence Search for other works by this author on: Oxford Academic PubMed Google Scholar Gabriele Simonini, Gabriele Simonini NEUROFARBA Department, Rheumatology Unit, Meyer Children's Hospital IRCCS, University of Florence, Florence, Italy Search for other works by this author on: Oxford Academic PubMed Google Scholar Anna Rosati Anna Rosati Neuroscience Department, Meyer Children’s Hospital IRCCS, University of Florence, Florence, Italy Corresponding author. Anna Rosati, MD, PhD, Neuroscience Department, Meyer Children’s Hospital, University of Florence, Viale Pieraccini 24, 50139 Florence, Italy, Email: anna.rosati@meyer.it https://orcid.org/0000-0002-8754-7214 Search for other works by this author on: Oxford Academic PubMed Google Scholar Rheumatology, kead237, https://doi.org/10.1093/rheumatology/kead237 Published: 26 May 2023 Article history Received: 01 February 2023 Revision received: 20 April 2023 Accepted: 10 May 2023 Published: 26 May 2023

The Gold Standard of Pediatric Hemodynamic Monitoring: Not All That Glitters Is Gold.

Pediatric Intensive Care Unit, Meyer Children’s University Hospital, Florence, Italy, Department of Health Sciences, Section of Anesthesiology and Intensive Care, University of Florence, Florence, Italy, zaccaria.[email protected] Department of Cardiac Surgery, Cardiology, Heart and Lung Transplant, Bambino Gesù Children’s Hospital, Rome, Italy Department of Health Sciences, Section of Anesthesiology and Intensive Care, University of Florence, Florence, Italy, Department of Anesthesia and Intensive Care, AOU Careggi, Florence, Italy

Editorial introductions.

Editorial introductions.

Pediatric asthma and development of atopy 2023.

aAllergy Unit, Meyer Children's Hospital IRCCS, Florence bDepartment of Health Sciences, University of Florence, Florence, Italy cDivision of Allergy and Immunology, Boston Children's Hospital, Harvard Medical School, Boston, USA Correspondence to Mattia Giovannini, MD, Allergy Unit, Meyer Children's Hospital IRCCS, Department of Health Sciences, University of Florence, Viale Pieraccini 24, 50139 Florence, Italy. Tel: +39 0555662472; e-mail: [email protected]

Myxoid glioneuronal tumor: Histopathologic, neuroradiologic, and molecular features in a single center series

BackgroundMyxoid glioneuronal tumor (MGT) is a benign glioneuronal neoplasm recently introduced in the World Health Organization (WHO) classification of the central nervous system (CNS) tumors. MGTs are typically located in the septum pellucidum, foramen of Monro or periventricular white matter of the lateral ventricle. They were previously diagnosed as dysembryoplastic neuroepithelial tumors (DNT), showing histological features almost indistinguishable from classical cortical DNT. Despite that, MGTs have been associated with a specific dinucleotide substitution at codon 385 in the platelet-derived growth factor receptor alpha (PDGFRA) gene, replacing a lysine residue with either leucine or isoleucine (p. LysK385Leu/Iso). This genetic variation has never been described in any other CNS tumor. Materials and methodsThirty-one consecutive tumors, previously diagnosed as DNTs at the Meyer Children's Hospital IRCCS between January 2010 and June 2021 were collected for a comprehensive study of their clinical, imaging, pathological features, and molecular profile. ResultsIn six out of the thirty-one tumors we had previously diagnosed as DNTs, we identified the recurrent dinucleotide mutation in the PDGFRA. All six tumors were typically located within the periventricular white matter of the lateral ventricle and in the septum pellucidum. We then renamed these lesions as MGT, according to the latest WHO CNS classification. In all patients we observed an indolent clinical course, without recurrence. ConclusionMGT represent a rare but distinct group of neoplasm with a typical molecular profiling, a characteristic localization, and a relative indolent clinical course.

L’ascolto dei pazienti: l’esperienza dell’ospedale pediatrico Meyer IRCCS

A patient’s right to be heard represents a fundamental principle in the field of medical care, particularly in the case of hospitalized minors, as described in the Convention on the Rights of the Child. In 2018, the Meyer Children’s Hospital introduced a pediatric version of a PREMs survey, however the involvement of young patients was limited. The VoiCEs project, started in 2021, has implemented a new system for collecting opinions on the hospitalization experience which has significantly increased the direct participation of pediatric patients. As it is now set up, the survey gives real meaning to the right to be heard and its results constitute a precious source of information for shaping a hospital that is more welcoming to girls, boys and adolescents.

Haemolytic Uremic Syndrome: A Study Cohort over 10-Year Period in a Paediatric Tertiary Centre Hospital

Background: Haemolytic uremic syndrome (HUS) is a thrombotic microangiopathy characterized by haemolytic anaemia, thrombocytopenia, and acute kidney injury. It represents the most frequent cause of acute kidney failure in paediatric age. HUS includes acquired types, such as post-infectious forms, and inherited types. If not promptly recognized, HUS still has high mortality and morbidity, with disabling long-term sequelae. Methods: Children diagnosed with HUS hospitalized between January 2010 and July 2021 at Meyer Children’s Hospital were retrospectively studied. Results: We selected 33 patients (M:F = 15:18) with a median age of 40 months (range 12–180 months). Twenty-eight cases (84.8%) were classified as acquired HUS: Shiga-like toxin Escherichia coli-related-HUS (STEC-HUS) was diagnosed in 26 patients (78.8%), while other 2 patients had HUS secondary to Streptococcus pneumoniae infections (3%) and hematopoietic stem cell transplantation (3%), each one. Five cases (15.1%) were classified as hereditary HUS: 4 patients (12.1%) presented inherited complement disorders (atypical HUS); 1 patient (3%) was diagnosed with cobalamin C deficiency. Diarrhoea was the most rated symptom (72.7%), mainly in STEC-HUS forms. In hereditary HUS, kidney involvement manifestations prevailed. Hypertension was present in 54.5% of total cases. Hypocomplementemia was present in 48.5% of patients; 30.3% of patients needed hospitalization in paediatric intensive care unit (PICU). Early hypertension and hypocomplementemia resulted to be related to the disease severity for either acute phase or long-term outcome. Leucocytosis, thrombocytopenia, and worsen renal function indices were related to PICU hospitalization. Overall, the outcome was good: long-term complications persisted in 18.2% of cases; 1 patient developed kidney failure; no patient died. Conclusions: HUS is a multifactorial disease mostly affecting children between 3 and 5 years old. Hypertension, leucocytosis, hypocomplementemia, thrombocytopenia, increased renal function indices, and extrarenal manifestations are risk factors for the worst outcome.

Neurological Involvement in Children with COVID-19 and MIS-C: A Retrospective Study Conducted for More than Two Years in a Pediatric Hospital.

This study aimed to evaluate the type and severity of neurological involvement in children with SARS-CoV-2 infection or multisystem inflammatory syndrome in children (MIS-C) and compare these findings between the two groups. Children hospitalized with the diagnosis of COVID-19 or MIS-C at Meyer Children's Hospital between February 2020 and June 2022 were retrospectively studied. One hundred twenty-two patients were enrolled, 95 in the COVID-19 group and 27 in the MIS-C group. In the COVID-19 group, impairment of consciousness was found in 67.4% of patients, headache in 18.9% and about 16.8% of patients experienced seizures. In this group, three patients were diagnosed with arterial ischemic stroke and one patient was diagnosed with Guillain-Barré syndrome (GBS). In the MIS-C group, about 70% of patients experienced consciousness impairment, about 20% behavioral changes, and another 20% mood deflection. Neurological symptoms and signs were highly heterogeneous and could be differentiated in COVID-19 and MIS-C. Consciousness impairment remained the most frequent manifestation in both groups, potentially underlying an encephalopathy. We also highlight the importance of considering psychiatric symptoms in children with COVID-19 and/or MIS-C. Most neurological manifestations were mild in our series; however, severe complications such as ischemic stroke and GBS are worthy of note.

Clinical profile and outcome of cardiomyopathies in infants and children seen at a tertiary centre

IntroductionDue to their rare prevalence and marked heterogeneity, pediatric cardiomyopathies (CMPs) are little known and scarcely reported. We report the etiology, clinical profile and outcome of a consecutive cohort of children diagnosed with CMP and followed at Meyer Children's Hospital over a decade. Patients and methodsWe retrospectively reviewed patients consecutively referred from May 2008 to May 2019 for pediatric onset CMP (<18 years). Heart disease caused by arrhythmic disorders, toxic agents, rheumatic conditions and maternal disease were excluded. ResultsWe enrolled 110 patients (65 males), diagnosed at a median age of 27 [4–134] months; 35% had an infant onset (<1 year of age). A positive family history was more often associated with childhood-onset (38.8%). Hypertrophic cardiomyopathy (HCM; 48 patients) was the most frequent phenotype, followed by dilated cardiomyopathy (DCM; 35 patients). While metabolic and idiopathic etiologies were preponderant in infants, metabolic and sarcomeric diseases were most frequent in the childhood-onset group. Major adverse cardiac events (MACE) occurred in 31.8% of patients, including hospitalization for acute heart failure in 25.5% of patients, most commonly due to DCM. Overall, the most severe outcomes were documented in patients with metabolic diseases. ConclusionsIn a consecutive cohort of pediatric patients with CMP, those with infantile onset and with a metabolic etiology had the worst prognosis. Overall, MACE occurred in 41% of the entire population, most commonly associated with DCM, inborn errors of metabolism and genetic syndromes. Systematic NGS genetic testing was critical for etiological diagnosis and management.

Hearing Outcome and Virologic Characteristics of Children With Congenital Cytomegalovirus Infection in Relation to Antiviral Therapy: A Retrospective Cohort Study.

Congenital cytomegalovirus infection is one of the leading causes of nongenetic sensorineural hearing loss. The aim of our retrospective cohort study was to describe the changes in hearing in relation to antiviral therapy and the trend in viremia and viruria in children with congenital cytomegalovirus infection. In the present study, data were collected from infants treated with valganciclovir for 6 weeks or 6 months or untreated, seen between 2000 and 2021 at the Infectious Diseases Unit, Meyer Children's University Hospital, Florence, Italy. Hearing deterioration was studied using Kaplan-Meier survival curves and risk factors for the outcome "deterioration" with Cox analysis. Ninety-eight children were enrolled. Three children developed late hearing loss (2 children treated with valganciclovir for 6 weeks and 1 untreated). Kaplan-Meier survival curves of children treated for 6 weeks and 6 months overlapped until 36 months of life, after then 2 children of the 6-week group showed a worsening of hearing function (P = 0.609). Cox analysis did not show a significant impact of analyzed variables (group of therapy, viruria and viremia) on the outcome. The resolution of detectable viruria and viremia was significantly faster in the 6-month group (P = 0.011, <0.001, respectively). Our study is the first that reports audiological characteristics at follow-up after 24 months of life in treated and untreated children with congenital cytomegalovirus infection. In our population, 6 months therapy may prevent the development of late hearing loss, although the different regimens did not differ in influencing the progression of congenital deafness.