Shwachman Diamond Syndrome: an emergency challenge

Shwachman Diamond Syndrome is a rare congenital disorder characterized by pancreatic insufficiency, bone marrow dysfunction and skeletal abnormalities. No specific test is available for a definitive diagnosis for SDS. In the presence of clinical features of SDS, pancreatic insufficiency should be tested for or lipomatosis radiologically demonstrated. New directions might be found in genetic analysis. Sometimes, a life-threatening event may be the first clinical manifestation of the syndrome

Shwachman Diamond Syndrome: an emergency challenge

Shwachman Diamond Syndrome is a rare congenital disorder characterized by pancreatic insufficiency, bone marrow dysfunction and skeletal abnormalities. No specific test is available for a definitive diagnosis for SDS. In the presence of clinical features of SDS, pancreatic insufficiency should be tested for or lipomatosis radiologically demonstrated. New directions might be found in genetic analysis. Sometimes, a life-threatening event may be the first clinical manifestation of the syndrome

Anthracycline-related cardiotoxicity: risk factors and therapeutic options in childhood cancers

Anthracyclines play an important role in chemotherapeutic regimens for a wide spectrum of childhood tumors, but they can cause cytotoxic damage to cardiac cells, especially in combination with radiotherapy. Furthermore, cardiotoxicity increases with the cumulative dose and may lead to congestive heart failure and cardiomyopathy. Other factors, including age, pre-existing cardiac disease, length of follow-up, gender, route of administration, concomitant exposure to some chemotherapeutic drugs, trisomy 21 and black race, play a role in increasing the risk of cardiac dysfunction. The prevention of anthracycline-induced cardiotoxicity is mandatory as children are expected to survive for decades after being cured of their cancer. The purpose of this work is to point out the major risk factors of cardiotoxicity in children and to summarize some strategies to limit or prevent this complication and to treat the development of acute heart failure

Assessment for late developmental hip dysplasia in a cohort of infants with risk factors and normal hip ultrasound

BackgroundDevelopmental dysplasia of the hip (DDH) is a known orthopedic pathology of newborns that, if not diagnosed and treated, can lead to debilitating long-term consequences. Ultrasound has proven to be an effective method for the early diagnosis of this condition. Recently, reports of late DDH in populations at risk (breech presentation) and after negative ultrasound examination have emerged in the literature.AimThe objective of the study was to assess the possible appearance of late DDH in Italian children with risk factors but negative ultrasound screening.Materials and methodsWe selected patients with risk factors for DDH and a negative hip ultrasound from the medical records of children referred to the Hip Ultrasound Clinic (Rome, Italy) from January 2018 to November 2021. To identify possible cases of late DDH, from February 2022 to July 2022, all patients who met the inclusion criteria were submitted to orthopedic follow-up clinical evaluation. In the case of a pathological objective examination, radiography was performed.ResultsFifty-five patients (52.7% female, 52.7% with breech presentation, and 41.8% with a positive family history) met the inclusion criteria. The median age of gait onset was 13 months. The median age of orthopedic follow-up examination was 45 months. Only three patients (5.5%) had a pathological examination, but no x-ray were pathological.ConclusionOur study has not documented cases of late DDH. Considering the small study population and the only clinical follow-up, further studies are needed to clarify the possible late development of this condition

Nerve growth factor improves visual loss in childhood optic gliomas: a randomized, double-blind, phase II clinical trial.

Paediatric optic pathway gliomas are low-grade brain tumours characterized by slow progression and invalidating visual loss. Presently there is no strategy to prevent visual loss in this kind of tumour. This study evaluated the effects of nerve growth factor administration in protecting visual function in patients with optic pathway glioma-related visual impairment. A prospective randomized double-blind phase II clinical trial was conducted in 18 optic pathway glioma patients, aged from 2 to 23 years, with stable disease and severe visual loss. Ten patients were randomly assigned to receive a single 10-day course of 0.5 mg murine nerve growth factor as eye drops, while eight patients received placebo. All patients were evaluated before and after treatment, testing visual acuity, visual field, visual-evoked potentials, optic coherence tomography, electroretinographic photopic negative response, and magnetic resonance imaging. Post-treatment evaluations were repeated at 15, 30, 90, and 180 days Brain magnetic resonance imaging was performed at baseline and at 180 days. Treatment with nerve growth factor led to statistically significant improvements in objective electrophysiological parameters (electroretinographic photopic negative response amplitude at 180 days and visual-evoked potentials at 30 days), which were not observed in placebo-treated patients. Furthermore, in patients in whom visual fields could still be measured, visual field worsening was only observed in placebo-treated cases, while three of four nerve growth factor-treated subjects showed significant visual field enlargement. This corresponded to improved visually guided behaviour, as reported by the patients and/or the caregivers. There was no evidence of side effects related to nerve growth factor treatment. Nerve growth factor eye drop administration appears a safe, easy and effective strategy for the treatment of visual loss associated with optic pathway gliomas

Nerve growth factor improves visual loss in childhood optic gliomas: a randomized, double-blind, phase II clinical trial.

Paediatric optic pathway gliomas are low-grade brain tumours characterized by slow progression and invalidating visual loss. Presently there is no strategy to prevent visual loss in this kind of tumour. This study evaluated the effects of nerve growth factor administration in protecting visual function in patients with optic pathway glioma-related visual impairment. A prospective randomized double-blind phase II clinical trial was conducted in 18 optic pathway glioma patients, aged from 2 to 23 years, with stable disease and severe visual loss. Ten patients were randomly assigned to receive a single 10-day course of 0.5 mg murine nerve growth factor as eye drops, while eight patients received placebo. All patients were evaluated before and after treatment, testing visual acuity, visual field, visual-evoked potentials, optic coherence tomography, electroretinographic photopic negative response, and magnetic resonance imaging. Post-treatment evaluations were repeated at 15, 30, 90, and 180 days Brain magnetic resonance imaging was performed at baseline and at 180 days. Treatment with nerve growth factor led to statistically significant improvements in objective electrophysiological parameters (electroretinographic photopic negative response amplitude at 180 days and visual-evoked potentials at 30 days), which were not observed in placebo-treated patients. Furthermore, in patients in whom visual fields could still be measured, visual field worsening was only observed in placebo-treated cases, while three of four nerve growth factor-treated subjects showed significant visual field enlargement. This corresponded to improved visually guided behaviour, as reported by the patients and/or the caregivers. There was no evidence of side effects related to nerve growth factor treatment. Nerve growth factor eye drop administration appears a safe, easy and effective strategy for the treatment of visual loss associated with optic pathway gliomas

Short Therapy in a Septic Arthritis of the Neonatal Hip

Septic arthritis (SA) is a serious joint infection associated with significant morbidity that can cause permanent damage with articular cartilage destruction, osteonecrosis and lifelong deformities if not diagnosed and treated promptly. In neonates, because of the paucity of signs and symptoms, SA is difficult to diagnose. The treatment for SA in children is empirical antibiotic for weeks, initially intravenously, and surgical (arthrotomy) in particular for the hip and shoulder because of the high risk of sequelae in these joints. Actually, there isn’t a consensus about the duration of antibiotic treatment, because of the lack of powered studies, and a variable period from 2 weeks to 4 months has been suggested in the literature. Data in the neonatal population are very limited. We describe a case of neonatal hip arthritis with a good outcome treated with a short antibiotic course of 2 weeks

Extragonadal yolk sac tumor outside of the midline of the body: a case report of a child with a yolk sac tumor of the pontocerebellar angle

Yolk sac tumor is a rare germ cell neoplasm occurring mainly in the gonads. Extragonadal yolk sac tumor is a very rare malignancy; its main distribution is along the midline of the body at three principal sites: mediastinum, central nervous system and retroperitoneum. Most yolk sac tumors are diagnosed between seven months and three years of age. We report a case of primary yolk sac tumor in a 13-month-old child. The tumor was located in the pontocerebellar angle, an atypical location that may not have suggested a yolk sac tumor as first diagnosis. We want to highlight the importance of performing tumor marker measurements during the first year of life, also for tumors located away from the midline

Comparison between Short Therapy and Standard Therapy in Pediatric Patients Hospitalized with Urinary Tract Infection: A Single Center Retrospective Analysis

Introduction: There is marked heterogeneity in clinicians’ choice of antibiotic duration for pediatric urinary tract infections (UTIs). Most patients with bacterial UTIs still receive between 7 and 10 days of antibiotics. Prolonged antibiotic exposure drives the emergence of resistance and increases the occurrence of adverse effects. There is increasing evidence that shorter antibiotic regimens may be equally effective compared with longer ones. However, studies evaluating shorter therapies in children hospitalized with urinary tract infections have not yet been performed. Methods: We performed a retrospective study comparing children hospitalized with UTIs treated with a short antibiotic (<7 days) or standard antibiotic treatment. The primary aim of our study was to assess the efficacy of a shorter antibiotic therapy for children with UTIs, compared with an historical group of children treated with a standard 7–14 days course. Results: 112 patients, 46 of which were females (41.1%) with a median age 6 months were enrolled. A total of 33 patients (29.5%) underwent a short therapy. All patients were successfully discharged from the acute episode, independently from antibiotic duration. Short therapy was associated with a lower risk of urinary tract relapse (22 relapses (95.6%) in the standard group, 1 (4.4%) in the short group; OR 0.081; 95%CI 0.01–0.63). Conclusions: Short antibiotic therapy was equivalent to standard duration therapy for the cure of UTIs in hospitalized children and was also associated with a lower rate of recurrences. This study provides the basis for a larger prospective randomized study to address the role of short antibiotic therapies in children with UTIs requiring hospitalizatio

2021/22 and 2022/23 Post-Pandemic Bronchiolitis Seasons in Two Major Italian Cities: A Prospective Study

Objectives: Bronchiolitis remains a major cause of morbidity and mortality in children under 24 months. During the first year of the pandemic, non-pharmacological interventions resulted in a significant reduction of bronchiolitis cases. Early in 2021, a rebound of bronchiolitis was reported with a description of out-of-season outbreaks. In this study, we prospectively evaluated the impact of bronchiolitis in two Italian University centers located in different geographical areas, aiming to compare two post-pandemic bronchiolitis seasons (2021/22 and 2022/23) in terms of severity, outcomes, microbiology and temporal distribution. Methods: This was a bicentric prospective observational cohort study. All consecutive children under 24 months of age assessed in the participating institutions during the specified seasons and receiving a clinical diagnosis of bronchiolitis were included. Results: A total of 900 patients were enrolled. Patients in the second season were globally younger and had comorbidities less often. Temporal distribution changed between the two seasons. Of the patients, 56% were tested for RSV; 60% of these was positive. Patients with RSV were globally younger (3.5 months vs. 4.9, p Conclusions: The 2022/23 post-COVID bronchiolitis was mostly similar to that of 2021/22, and was in line with pre-pandemic expectations