Prevalence and outcomes of arthritis in pediatric IBD: A multicenter study from the Italian Society of Pediatric Gastroenterology Hepatology and Nutrition.

Background And Aims: The aim of the present study was to assess prevalence and disease outcomes of arthritis in a nationwide cohort of pediatric patients with inflammatory bowel disease (IBD).

Methods: We collected data of pediatric IBD patients experiencing arthritis from the Italian Society of Pediatric Gastroenterology, Hepatology and Nutrition IBD registry. We gathered baseline and one-year follow-up data on concomitant IBD and arthritis diagnosis.

Diagnostic yield of exome sequencing-based copy number variation analysis in Mendelian disorders: a clinical application.

Next-generation sequencing (NGS) coupled with bioinformatic tools has revolutionized the detection of copy number variations (CNVs), which are implicated in the emergence of Mendelian disorders. In this study, we evaluated the diagnostic yield of exome sequencing-based CNV analysis in 449 patients with suspected Mendelian disorders. We aimed to assess the diagnostic yield of this recently utilized method and expand the clinical spectrum of intragenic CNVs.

Implementation of the WHO Standards to assess the quality of paediatric care using health workers as source of data: findings of a multicentre study (CHOICE) in Italy.

Objectives: There is little experience in implementing the WHO Standards for improving the quality of care (QOC) for children. We describe the use of 75 WHO-Standard based Quality Measures to assess paediatric QOC, using health workers (HWs) as data sources.

Design: Cross-sectional study.

Striving for excellence: multicentre quality improvement project to optimize CT KUB technique in renal colic patients.

Objective: To perform audit of imaging practice in different hospitals to assess their adherence to guidelines on optimizing computerized tomography of kidneys, ureter, and bladder (CT KUB) technique in order to reduce unnecessary scan length. To assess improvement in adherence to guidelines after intervention, following education of the technologists.

Material And Methods: There were 12 participant radiology departments in 8 cities of Islamic Republic of Pakistan.

Timing for reconstructive surgery in Hirschsprung disease.

Introduction: Debate exists regarding the ideal timing for surgery in Hirschsprung disease (HSCR) in various groups of age. The aim of this paper was to suggest a possible strategy to determine the optimal timing for reconstructive surgery in patients affected by HSCR.

Evidence Acquisition: A systematic literature search of papers published on PubMed and Embase during the last decade, addressing "Hirschsprung," "preoperative enterocolitis," "preoperative mortality," "complications," and "timing" in all possible combinations, was performed.

Assessing Disparities about Overweight and Obesity in Pakistani Youth Using Local and International Standards for Body Mass Index.

Obesity is currently considered a public health problem in both developed and developing countries. Gender- and age-specific body mass index (BMI) growth standards or references are particularly effective in monitoring the global obesity pandemic. This study aimed to report disparities in age-, gender- and ethnic-specific statistical estimates of overweight and obesity for 2-18 years aged Pakistani children and adolescents using the World Health Organization (WHO), the Center for Disease Control (CDC) 2000 references, the International Obesity Task Force (IOTF) and Pakistani references for BMI.

Skipped Aganglionic Lengthening Transposition (SALT) is highly effective to achieve enteral autonomy in selected patients with intestinal failure secondary to total intestinal aganglionosis.

Background: Intestinal Failure, parenteral nutrition (PN) dependence, and subsequent liver disease are the most challenging and life-threatening complications of short bowel syndrome experienced by patients with total intestinal aganglionosis. Skipped Aganglionic Lengthening Transposition (SALT) showed to be a promising procedure to overcome such problems. We herein report the results of two patients who underwent SALT at the Umberto Bosio Center for Digestive Diseases.

Palmitoylethanolamide and polydatin in pediatric irritable bowel syndrome: A multicentric randomized controlled trial.

Objective: This study aimed to evaluate the efficacy and safety of co-micronized palmitoylethanolamide (PEA)/polydatin (PD) in the treatment of abdominal pain symptoms in pediatric patients with irritable bowel syndrome (IBS).

Methods: This was a multicenter trial conducted at three Italian pediatric gastroenterology centers, employing a double-blind, placebo-controlled, parallel-arm design. Participants were ages 10 to 17 y and met Rome IV criteria for pediatric IBS.

Effect of Minimization of Early Blood Sampling Losses Among Extremely Premature Neonates: A Randomized Clinical Trial.

Objective: To evaluate the effect of blood sampling stewardship on transfusion requirements among infants born extremely preterm.

Study Design: In this single-center, randomized controlled trial (RCT), infants born at <28 weeks of gestation and birth weight of <1000 g were randomized at 24 hours of age to two different blood sampling approaches: restricted sampling (RS) vs conventional sampling (CS). The stewardship intervention in the RS group included targeted reduction in blood sampling volume and frequency and point of care testing methods in the first 6 weeks after birth.

Delayed diagnosis in Hirschsprung disease.

Introduction: Diagnostic delay in Hirschsprung disease is uncommon. Different definitions have been proposed but that of a diagnosis achieved after 12 months of age seems to be the most reliable and resorted to. Some authors reported a worse outcome in case of delay.

Congenital lung malformations: a nationwide survey on management aspects by the Italian Society of Pediatric Surgery.

Introduction: Over the years, congenital lung malformations (CLM) management remains a controversial topic in pediatric thoracic surgery. The Italian Society of Pediatric Surgery performed a national survey to study the current management variability among centers, trying to define national guidelines and a standardized approach of children with congenital lung malformations.

Methods: Following a National Society approval, an electronic survey including 35 items on post-natal management was designed, focusing on surgical, anesthesiology, radiology and pneumology aspects.

Multimodal evoked potentials are useful for the diagnosis of pediatric acute disseminated encephalomyelitis.

Background: The application of evoked potentials (EPs) to the diagnosis of acute disseminated encephalomyelitis (ADEM ) has not been investigated in detail. The aim of this study, therefore, was to analyze the value of multimodal EPs in the early diagnosis of pediatric ADEM.

Methods: This was a retrospective study in which we enrolled pediatric ADEM patients and controls (Cs) from neurology units between 2017 and 2021.

Chronic intestinal pseudo-obstruction: associations with gut microbiota and genes expression of intestinal serotonergic pathway.

Background: Pediatric chronic intestinal pseudo-obstruction (PIPO) is a rare disease characterized by symptoms and radiological signs suggestive of intestinal obstruction, in the absence of lumen-occluding lesions. It results from an extremely severe impairment of propulsive motility. The intestinal endocrine system (IES) jointly with the enteric nervous system (ENS) regulates secreto-motor functions via different hormones and bioactive messengers/neurotransmitters.

A Structured Training for Trans Anal Irrigation in Pediatric Patients Improves Outcomes and Reduce Failures: Results of an Interventional Multicenter Prospective Study.

Background: Continence issues due to organic causes including previous colorectal surgery or neurological issues might benefit from Transanal irrigation (TAI) that proved to be highly effective but with a number of limitations including a relatively high discontinuation rates. Our study was aimed at evaluating the efficacy of an advanced protocol tailored to each patient to prevent dropout and increase satisfaction, independence, and quality of life.

Materials And Methods: This was a prospective, interventional, multicenter, nonrandomized study involving children aged 4-18 years with bowel dysfunction unresponsive to conventional treatments who required TAI.

From Pediatric to Adult Brain Cancer: Exploring Histone H3 Mutations in Australian Brain Cancer Patients.

Genetic histone variants have been implicated in cancer development and progression. Mutations affecting the histone 3 (H3) family, H3.1 (encoded by and ) and H3.

Intestinal fungal profile in healthy Saudi children.

Background And Study Aim: Fungi have a well-established role in medicine. Herein, we describe the fungal profile and abundance in the gut of healthy Saudi children.

Patients And Methods: Fecal samples from a random sample of 20 school-age Saudi children were collected, stored at -80 °C, and dispatched to the laboratory in the USA where fungal DNAs were isolated and shotgun metagenomic sequencing was performed.

Retinoblastoma in Asia: Clinical Presentation and Treatment Outcomes in 2112 Patients from 33 Countries.

Purpose: To describe the clinical presentation and treatment outcomes of children who received a diagnosis of retinoblastoma in 2017 throughout Asia.

Design: Multinational, prospective study including treatment-naïve patients in Asia who received a diagnosis of retinoblastoma in 2017 and were followed up thereafter.

Participants: A total of 2112 patients (2797 eyes) from 96 retinoblastoma treatment centers in 33 Asian countries.

Identification of genetic variants associated with a wide spectrum of phenotypes clinically diagnosed as Sanfilippo and Morquio syndromes using whole genome sequencing.

Mucopolysaccharidoses (MPSs) are inherited lysosomal storage disorders (LSDs). MPSs are caused by excessive accumulation of mucopolysaccharides due to missing or deficiency of enzymes required for the degradation of specific macromolecules. MPS I-IV, MPS VI, MPS VII, and MPS IX are sub-types of mucopolysaccharidoses.

Evaluation of sympathetic skin response for early diagnosis and follow-up of diabetic peripheral neuropathy in children.

Background: The morbidity of type 1 diabetes mellitus (T1DM) in children is increasing and diabetic peripheral neuropathy (DPN) is one of the main microvascular complications of T1DM. The aim of this study was to explore sympathetic skin response (SSR) characteristics in children with T1DM and analyze the value of early diagnosis and follow-up in T1DM complicated with DPN.

Methods: Our prospective study enrolling 85 participants diagnosed with T1DM and 30 healthy controls (HCs) in the Children's Hospital of Hebei Province from 2017 to 2020.

High morbidity and mortality in children with untreated congenital deficiency of leptin or its receptor.

The long-term clinical outcomes of severe obesity due to leptin signaling deficiency are unknown. We carry out a retrospective cross-sectional investigation of a large cohort of children with leptin (LEP), LEP receptor (LEPR), or melanocortin 4 receptor (MC4R) deficiency (n = 145) to evaluate the progression of the disease. The affected individuals undergo physical, clinical, and metabolic evaluations.