Impact of COVID-19 pandemic on pediatric endoscopy: A multicenter study on behalf of the SIGENP Endoscopy Working Group.

Background: Aim of the present report was to investigate the repercussions of COVID-19 pandemic on the procedural volumes and on the main indications of pediatric digestive endoscopy in Italy.

Methods: An online survey was distributed at the beginning of December 2020 to Italian digestive endoscopy centers. Data were collected comparing two selected time intervals: the first from 1st of February 2019 to 30th June 2019 and the second from 1st February 2020 to 30th June 2020.

A Novel NUP98/RARG Gene Fusion in Pediatric Acute Myeloid Leukemia Resembling Acute Promyelocytic Leukemia.

Here, we introduced the first case of acute myeloid leukemia (AML) with RARG-NUP98 in a pediatric patient. The young male presented with structural and functional abnormalities similar to hypergranular acute promyelocytic leukemia, but was resistant to all transretinoic acids and arsenic trioxide. Till date, only 12 adult AML cases involving RARG rearrangement have been reported.

WHO standards-based tools to measure service providers' and service users' views on the quality of hospital child care: development and validation in Italy.

Objectives: Evidence showed that, even in high-income countries, children and adolescents may not receive high quality of care (QOC). We describe the development and initial validation, in Italy, of two WHO standards-based questionnaires to conduct an assessment of QOC for children and young adolescents at inpatient level, based on the provider and user perspectives.

Design: Multiphase, mixed-methods study.

Crossed pulmonary arteries and DiGeorge syndrome: case reports and literature review.

DiGeorge syndrome has heterogeneous clinical presentation, and for this reason, its diagnosis can be challenging and may be missed. Since CHDs are very common in this patients, they can be considered pillars of clinical diagnosis of the syndrome. Therefore, accurate echocardiography is needed to detect even minor cardiac anomalies, as some specific malformation like crossed pulmonary arteries can be associated with 22q11 syndrome.

Urological Impact of Epididymo-orchitis in Patients with Anorectal Malformation: An ARM-Net Consortium Study.

Introduction:  To investigate the current experience of the ARM-Net Consortium in the management of epididymo-orchitis (EO) in patients with anorectal malformations (ARMs), and to identify specific risk factors and the need for urological care involvement.

Materials And Methods:  We retrospectively collected data of EO in patients with ARM between 2015 and 2019. Data on urological aspects, ARM type, surgical approach, associated anomalies, diagnosis, and treatment of EO were collected and analyzed.

Clinico-radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency.

Developmental and epileptic encephalopathy 35 (DEE 35) is a severe neurological condition caused by biallelic variants in ITPA, encoding inosine triphosphate pyrophosphatase, an essential enzyme in purine metabolism. We delineate the genotypic and phenotypic spectrum of DEE 35, analyzing possible predictors for adverse clinical outcomes. We investigated a cohort of 28 new patients and reviewed previously described cases, providing a comprehensive characterization of 40 subjects.

Very early onset inflammatory bowel disease: Spectrum of clinical presentation, diagnostic tools and outcome in children.

Objective: To explore the spectrum of presentation, underlying monogenetic defects and outcome in very early onset inflammatory bowel disease (VEO-IBD).

Method: The prospective, observational study was conducted at the Children's Hospital, Lahore, Pakistan, from January 2017 to December 2018, and comprised children developing features of inflammatory bowel disease aged <6 years. Data included demography, clinical presentation, diagnostic tools and outcome.

Idiopathic Granulomatous Mastitis: A Rare Confrontation.

Idiopathic granulomatous mastitis is a benign chronic inflammatory condition of the breast, the etiology of which has not been identified yet; it mimics two common breast disorders: breast carcinoma and tuberculous mastitis. Hence, this clinical entity poses difficulties in the diagnostic work-up. As clinical presentation and imaging findings often simulate other infectious and neoplastic etiologies, an accurate and early diagnosis is crucial to prevent misdiagnosis.

European Pediatric Surgeons' Association Survey on the Management of Primary Spontaneous Pneumothorax in Children.

Aim:  To evaluate the practice patterns of the European Pediatric Surgeons' Association (EUPSA) members regarding the management of primary spontaneous pneumothorax (PSP) in children.

Methods:  An online survey was distributed to all members of EUPSA.

Results:  In total, 131 members from 44 countries participated in the survey.

Minimally Invasive Partial Spleen Resection Preserving the Lower Pole in Children: A Technical Report on Feasibility and Safety.

Laparoscopic partial splenectomy is a surgical option for removing part of the spleen with a pathological mass in a way that ensures preservation of the spleen's physiological functions. We aimed to evaluate the efficacy and feasibility of this procedure, performed while preserving the blood supply from the left gastroepiploic artery, in children. Following institutional review board approval, this retrospective study was conducted on patients who, between January 2015 and December 2019, underwent laparoscopic partial splenectomy with preservation of blood supply from the left gastroepiploic vessels.

Phenotypic spectrum and genetics of PAX2-related disorder in the Chinese cohort.

Background: Pathogenic variants of PAX2 cause autosomal-dominant PAX2-related disorder, which includes variable phenotypes ranging from renal coloboma syndrome (RCS), congenital anomalies of the kidney and urinary tract (CAKUT) to nephrosis. Phenotypic variability makes it difficult to define the phenotypic spectrum associated with genotype.

Methods: We collected the phenotypes in patients enrolled in the China national multicenter registry who were diagnosed with pathogenic variant in PAX2 and reviewed all published cases with PAX2-related disorders.

Pathways and microbiome modifications related to surgery and enterocolitis in Hirschsprung disease.

Background: Hirschsprung disease (HSCR) is a congenital anomaly of the enteric nervous system. Abnormal microbiome composition was reported in HSCR patients. In this study, we addressed and analyzed microbiome modifications with relation tosurgery and HSCR associated enterocolitis (HAEC).

Factors associated with quality of life in Italian children and adolescents with IBD.

Improving the quality of life (QoL) is crucial in the management of pediatric inflammatory bowel disease (IBD). We aimed to (1) Validate the IMPACT-III questionnaire in Italian IBD children; (2) explore factors associated to QoL in pediatric IBD. Internal consistency, concurrent validity, discriminant validity and reproducibility of the Italian version of the IMPACT-III questionnaire was measured in IBD children/adolescents in 8 centers.

Developing neck circumference growth reference charts for Pakistani children and adolescents using the lambda-mu-sigma and quantile regression method.

Objective: Neck circumference (NC) is currently used as an embryonic marker of obesity and its associated risks. But its use in clinical evaluations and other epidemiological purposes requires sex and age-specific standardised cut-offs which are still scarce for the Pakistani paediatric population. We therefore developed sex and age-specific growth reference charts for NC for Pakistani children and adolescents aged 2-18 years.

Acceptance of COVID-19 Vaccine in Pakistan: A Nationwide Cross-Sectional Study.

Introduction The coronavirus disease 2019 (COVID-19) vaccine is available across various countries worldwide, with public-private partnerships ensuring all individuals are vaccinated through a phased approach. Irrespective of the geographical spread, several myths pertaining to the COVID-19 vaccine have stemmed, ultimately limiting the national administration of vaccines and rollouts. This study assessed the acceptance of the COVID-19 vaccine among the general public in Pakistan.

Assessment of public intention to get vaccination against COVID-19: Evidence from a developing country.

Objectives: Widespread acceptance of the COVID-19 vaccine will be the next important step in fighting the novel coronavirus disease. Though the Pakistani government has successfully implemented robust policies to overcome the COVID-19 pandemic; however, studies assessing public intention to get COVID-19 vaccination (IGCV) are limited. The aim of this study is to deal with this literature gap and has also expanded the conceptual framework of planned behaviour theory.

Autoimmune thyroid disease in children with diabetes and adolescents: A single center study from south Punjab.

Objective: To evaluate the prevalence of autoimmune thyroid disease in children with diabetes.

Methods: The descriptive cross-sectional study was conducted from January to December 2019 at the Children Hospital and the Institute of Child Health, Multan, Pakistan, and comprised paediatric type 1 diabetes mellitus patients of both genders. Blood samples were obtained for detailed testing of thyroid functions tests.

Generation of an induced pluripotent stem cell line (ZJUi007-A) from a 11-year-old patient of Fabry disease.

PBMCs were collected from a patient with a novel GLA gene mutation (c.140G > A) which contributed to Fabry disease. Subsequently, an induced pluripotent stem cell (iPSC) line was derived using an episomal reprogramming method that transfer the reprogramming plasmids expressing OCT3/4, SOX2, KLF4, LIN28 and L-MYC into the PBMCs.

Intravenous immunoglobulin for corticosteroid-resistant intestinal Henoch-Schönlein purpura: worth a controlled trial against corticosteroids?

Objectives: Henoch-Schönlein purpura (HScP) may present in children with severe, occasionally refractory, gastrointestinal (GI) involvement. The use of corticosteroids (CSs) is commonplace in the management of the disease, but to date no standardized protocol is available and, although rare, resistance to CS therapy may be challenging to clinicians. IVIG has been proposed as an effective alternative to CSs, but to date no controlled trial has been conducted to ascertain their real efficacy.

Post-COVID Neuromyelitis Optica Spectrum Disorder.

After novel coronavirus pandemic that emerged from Wuhan, China in December 2019, several cases of inflammatory and immune-mediated disorders have been reported, thought to be triggered by SARS-CoV-2 infection. Neuromyelitis optica spectrum disorder (NMOSD) is one of the autoimmune demyelinating disorders, which is thought to be triggered by viral infection. Herein, we describe a case of NMOSD in a pediatric patient with a previous SARS-CoV-2 infection, acting as a possible triggering factor.

Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies.

Purpose: We aimed to define a novel autosomal recessive neurodevelopmental disorder, characterize its clinical features, and identify the underlying genetic cause for this condition.

Methods: We performed a detailed clinical characterization of 19 individuals from nine unrelated, consanguineous families with a neurodevelopmental disorder. We used genome/exome sequencing approaches, linkage and cosegregation analyses to identify disease-causing variants, and we performed three-dimensional molecular in silico analysis to predict causality of variants where applicable.