Seizure outcomes and safety profiles of surgical options for epilepsy associated to hypothalamic hamartomas. A systematic review and meta-analysis.

Purpose: Several surgical options are available for treating hypothalamic hamartoma-related epilepsy but their respective efficacy and safety profiles are poorly defined.

Methods: A literature search identified English-language articles reporting series of patients (minimum 3 patients with a follow-up ≥12 months) operated on by either microsurgery, endoscopic surgery, radiosurgery, radiofrequency thermocoagulation or laser interstitial thermal therapy for hypothalamic hamartoma-related epilepsy. The unit of analysis was each selected study.

Successful treatment with avacopan (CCX168) in a pediatric patient with C3 glomerulonephritis.

Background: C3 glomerulonephritis (C3GN) is a subtype of C3 glomerulopathy (C3G), characterized by dysregulation of the alternative pathway of complement and by dominant C3 by immunofluorescence on the kidney biopsy. There is no approved treatment for patients with C3G. Immunosuppressive drugs as well as biologics have been used with limited success.

Onabotulinum Toxin A Intradetrusor Injections in Children with Neurogenic Lower Urinary Tract Dysfunction: Long-Term Histological Effects on the Bladder Wall.

Background: In the last twenty-five years, Onabotulinum Toxin A (BTX-A) has gained increasing popularity for neurogenic lower urinary tract dysfunction (NLUTD) treatment. To maintain its efficacy, repeated BTX-A intradetrusor injections are required over time, with unknown effects on the bladder wall in children. The aim of this paper is to report long-term effects on the bladder wall in children treated with BTX-A.

A multicenter retrospective study of calcineurin inhibitors in nephrotic syndrome secondary to podocyte gene variants.

While 44-83% of children with steroid-resistant nephrotic syndrome (SRNS) without a proven genetic cause respond to treatment with a calcineurin inhibitor (CNI), current guidelines recommend against the use of immunosuppression in monogenic SRNS. This is despite existing evidence suggesting that remission with CNI treatment is possible and can improve prognosis in some cases of monogenic SRNS. Herein, our retrospective study assessed response frequency, predictors of response and kidney function outcomes among children with monogenic SRNS treated with a CNI for at least three months.

IPNA clinical practice recommendations for the diagnosis and management of children with steroid-sensitive nephrotic syndrome.

Idiopathic nephrotic syndrome is the most frequent pediatric glomerular disease, affecting from 1.15 to 16.9 per 100,000 children per year globally.

Evaluation of nutritional status through bioimpedance analysis in a group of Cystic Fibrosis patients.

Cystic fibrosis (CF) is the most common genetic disease in Caucasian people. Nutritional status represents an important key in the progression of the pulmonary disease in CF. People with better nutritional status, generally, maintain good levels of physical activity.

Telemonitoring for Cystic fibrosis patients of Bambino Gesù Children's Hospital during COVID-19.

Background: Cystic fibrosis (CF) is the most common autosomal recessive genetic pathology of the Caucasian race and it affects nearly 100,000 people worldwide (many have not been diagnosed) and, in Italy, there are about 6000 patients. In the last few years, telemedicine has proved to be an effective home care tool for patients suffering from chronic pathologies. The advent of the COVID-19 pandemic has caused an increase of communications through mobile devices.

Safety and Effectiveness of Compounded Galenic Cholic Acid for Bile Acid Synthesis Disorder: A Case Report.

Background: Bile acid synthesis disorders are rare congenital diseases that can lead to cirrhosis and end-stage liver disease if left untreated. Cholic acid administration is the only treatment that can prevent patients from fatal outcomes. Since 2013 in Europe, there has been just one formulation of cholic acid: Orphacol®.

Community-Based Rehabilitation Indicators: Validation and Preliminary Evidence for Disability in Italy.

Community-based rehabilitation (CBR) is a multi-sectorial community strategy for guaranteeing that people with disabilities enjoy the same rights and opportunities as all other community members. CBR is organized in a five-component matrix-namely, health, education, social, livelihood, and empowerment. To measure the effectiveness of CBR, the World Health Organization (WHO) has developed standardized indicators.

Membranous nephropathy.

Membranous nephropathy (MN) is a glomerular disease that can occur at all ages. In adults, it is the most frequent cause of nephrotic syndrome. In ~80% of patients, there is no underlying cause of MN (primary MN) and the remaining cases are associated with medications or other diseases such as systemic lupus erythematosus, hepatitis virus infection or malignancies.

A clinical approach to children with C3 glomerulopathy.

C3 glomerulopathy is a relatively new clinical entity that represents a challenge both to diagnose and to treat. As new therapeutic agents that act as complement inhibitors become available, many with an oral formulation, a better understanding of this disease and of the underlying complement dysregulation driving it has become increasingly useful to optimize patient care. Moreover, recent advances in research have clarified the role of complement in other glomerular diseases in which its role was less established, namely in immune-complex membranoproliferative glomerulonephritis (IC-MPGN), ANCA-vasculitis, IgA nephropathy, and idiopathic membranous nephropathy.

DICER1 Syndrome and Cancer Predisposition: From a Rare Pediatric Tumor to Lifetime Risk.

DICER1 syndrome is a rare genetic condition predisposing to hereditary cancer and caused by variants in the gene. The risk to present a neoplasm before the age of 10 years is 5.3 and 31.

Prospective phase II study of children affected by bilateral intraocular retinoblastoma with macular involvement of both eyes or in the only preserved eye. Macular tumor control, eye preservation rate, and visual outcome.

Background: Conservative treatments of intraocular retinoblastoma often consist of chemotherapy and focal treatments. The protocols vary and currently may combine two or three drugs, with different number of cycles, associated to the ocular treatments. In case of macular/paramacular involvement, tumor location and retinal scars induced by focal treatments often have a major negative impact on final visual outcome.

Craniosynostosis-microphthalmia syndrome belongs to the spectrum of BCOR-related disorders.

Craniosynostosis-microphthalmia linked to BCOR haploinsufficiency.

Delineation of MidXq28-duplication syndrome distal to MECP2 and proximal to RAB39B genes.

Two distinct genomic disorders have been linked to Xq28-gains, namely Xq28-duplications including MECP2 and Int22h1/Int22h2-mediated duplications involving RAB39B. Here, we describe six unrelated patients, five males and one female, with Xq28-gains distal to MECP2 and proximal to the Int22h1/Int22h2 low copy repeats. Comparison with patients carrying overlapping duplications in the literature defined the MidXq28-duplication syndrome featuring intellectual disability, language impairment, structural brain malformations, microcephaly, seizures and minor craniofacial features.

Telemedicine Home Program in Patients with Cystic Fibrosis: Results after 10 Years.

Objectives: We studied the effect of Telehomecare (THC) in a group of cystic fibrosis (CF) patients.

Materials And Methods: Forced Expiratory Volume in the first second (FEV1) was monitored at home, with the aim of an early recognition of the relapses of pulmonary infections. FEV1 was monitored for 4.

Mediastinal Germ Cell Tumors in Pediatric Patients: A Report From the Italian Association of Pediatric Hematology and Oncology.

Background: Primary mediastinal germ cell tumors (GCTs) are rare in children and still represent a challenge for both adult and pediatric oncologists because of their worse outcome compared to their gonadal counterpart.

Procedure: Prospectively collected data concerning patients enrolled in the Italian Association of Pediatric Haematology and Oncology study on malignant GCTs (AIEOP TCGM 2004) protocol for the treatment of GCTs were analyzed. Patients with malignant mediastinal primary GCTs were included in this study.

Intracellular distribution of glutathionylated proteins in cultured dermal fibroblasts by immunofluorescence.

S-glutathionylation is a mechanism of signal transduction by which cells respond effectively and reversibly to redox inputs. The glutathionylation regulates most cellular pathways. It is involved in oxidative cellular response to insult by modulating the transcription factor Nrf2 and inducing the expression of antioxidant genes (ARE); it contributes to cell survival through nuclear translocation of NFkB and activation of survival genes, and to cell death by modulating the activity of caspase 3.

A dedicated protocol and environment for central venous catheter removal in pediatric patients affected by onco-hematological diseases.

Purpose: The removal of long-term central venous catheters (CVCs) is not performed according to evidence-based guidelines, thus conveying the message that it is a procedure of secondary importance. Our study aims at comparing the experience at Bambino Gesù Pediatric Hospital before and after the implementation of a dedicated protocol and the identification of a specific area to perform such a procedure under the so-called nonoperating room anesthesia (NORA).

Methods: Starting on January 1, 2010, an appropriate protocol regarding long-term CVC removal was applied.

Nonalcoholic fatty liver disease in children.

Purpose Of Review: The intent of this review is to provide a concise overview of all recent acquisitions in terms of therapies and early noninvasive diagnostic approaches for nonalcoholic fatty liver disease (NAFLD) in children.

Recent Findings: NAFLD is increasingly being diagnosed in children. If undiscovered and if certain risks are present (i.

The pediatric NAFLD fibrosis index: a predictor of liver fibrosis in children with non-alcoholic fatty liver disease.

Background: Liver fibrosis is a stage of non-alcoholic fatty liver disease (NAFLD) which is responsible for liver-related morbidity and mortality in adults. Accordingly, the search for non-invasive markers of liver fibrosis has been the subject of intensive efforts in adults with NAFLD. Here, we developed a simple algorithm for the prediction of liver fibrosis in children with NAFLD followed at a tertiary care center.

Low dose remifentanyl infusion for analgesia and sedation in ventilated newborns.

Aim: The aim of this study was to evaluate the analgesic effects of remifentanyl on mechanically ventilated newborns.

Methods: Eighteen newborns, mechanically ventilated, were submitted to continuous infusion of R. A pain scale was used to evaluate comfort during mechanical ventilation.