Incidence, risk factors and management of post cesarean section surgical site infection (SSI) in a tertiary hospital in Egypt: a five year retrospective study.

Background: Surgical site infection (SSI) is one of the commonest complications following cesarean section (CS) with a reported incidence of 3-20%. SSI causes massive burdens on both the mother and the health care system. Moreover, it is associated with high maternal morbidity and mortality rate of up to 3%.

Monoallelic KIF1A-related disorders: a multicenter cross sectional study and systematic literature review.

Background: Monoallelic variants in the KIF1A gene are associated with a large set of clinical phenotypes including neurodevelopmental and neurodegenerative disorders, underpinned by a broad spectrum of central and peripheral nervous system involvement.

Methods: In a multicenter study conducted in patients presenting spastic gait or complex neurodevelopmental disorders, we analyzed the clinical, genetic and neuroradiological features of 28 index cases harboring heterozygous variants in KIF1A. We conducted a literature systematic review with the aim to comparing our findings with previously reported KIF1A-related phenotypes.

IL-23/Th17 pathway and IL-17A gene polymorphism in Egyptian children with immune thrombocbytopenic purpura.

Background: Immune thrombocytopenic purpura (ITP) is an acquired complex autoimmune thrombocytopenia. Uncontrolled cellular immune response is one of the key triggers for the loss of immune tolerance in ITP patients. The purpose of this study was to investigate the association of IL-23/Th17, IL-17A and IL-17A rs2275913 gene polymorphism with ITP in Egyptian children.

Sequences of COVID-19 in a child with WAGR syndrome: A case report.

Introduction: and importance: WAGR syndrome is a rare genetic disorder consist of Wilms tumor, Aniridia, Genitourinary abnormalities, and Intellectual disability. During the enduring COVID-19 pandemic, it has become extremely important to document the properties of SARS-CoV-2 and its interactions with other diseases. Herein, we present the first case of Syrian child with WAGR syndrome that has been affected by COVID-19.

ATP7B variant spectrum in a French pediatric Wilson disease cohort.

Background/aim: The spectrum of ATP7B variants varies significantly according to geographic distribution, and there is insufficient data on the variants observed in the French population.

Methods: Clinical data of 113 children included in the French WD national registry were gathered from March 01, 1995 to July 01, 2020. Data included epidemiological, clinical, laboratory, genetics.

A noncoding RNA modulator potentiates phenylalanine metabolism in mice.

The functional role of long noncoding RNAs (lncRNAs) in inherited metabolic disorders, including phenylketonuria (PKU), is unknown. Here, we demonstrate that the mouse lncRNA and human associate with phenylalanine hydroxylase (PAH). -knockout mice exhibited excessive blood phenylalanine (Phe), musty odor, hypopigmentation, growth retardation, and progressive neurological symptoms including seizures, which faithfully models human PKU.

Exposure to low-dose ionising radiation from cardiac catheterisation and risk of cancer: the COCCINELLE study cohort profile.

Purpose: The COCCINELLE study is a nationwide retrospective French cohort set up to evaluate the risk of cancer in patients who undergone cardiac catheterisation (CC) procedures for diagnosis or treatment of congenital heart disease during childhood.

Participants: Children who undergone CC procedures from 1 January 2000 to 31 December 2013, before the age of 16 in one of the 15 paediatric cardiology departments which perform paediatric CC in mainland France were included. The follow-up started at the date of the first recorded CC procedure until the exit date, that is, the date of death, the date of first cancer diagnosis, the date of the 18th birthday or the 31 December 2015, whichever occurred first.

Pediatric Wilson's Disease: Phenotypic, Genetic Characterization and Outcome of 182 Children in France.

Objectives: To describe a cohort of Wilson disease (WD) pediatric cases, and to point out the diagnostic particularities of this age group and the long-term outcome.

Methods: Clinical data of 182 pediatric patients included in the French WD national registry from 01/03/1995 to 01/06/2019 were gathered.

Results: Diagnosis of WD was made at a mean age of 10.

Characterization of pain after tympanoplasty and tympanomastoidectomy and analysis of risk factors. A prospective cohort study.

Purpose: To characterize postoperative pain after tympanoplasty and tympanomastoidectomy and correlate between pain severity and various technical aspects of the surgery.

Methods: We carried out a prospective cohort study of patients undergoing ear surgery in a tertiary referral center between 7/2018 and 7/2019. Patients filled in a pain questionnaire and scored pain intensity on a visual analog scale preoperatively and on postoperative days (POD) 1-4, 21, and 49.

Impact that the COVID-19 pandemic on routine childhood vaccinations and challenges ahead: A narrative review.

Aim: To document the decline in vaccination coverage in the first months of 2020 as an indirect effect of the COVID-19 pandemic.

Methods: We performed a literature review in medical databases. Overall, 143 articles were initially retrieved, out of which 48 were selected and included in the review.

Feeding disorders in children with oesophageal atresia: a cross-sectional study.

Introduction: With advances in surgical and neonatal care, the survival of patients with oesophageal atresia (OA) has improved over time. Whereas a number of OA-related conditions (delayed primary anastomosis, anastomotic stricture and oesophageal dysmotility) may have an impact on feeding development and although children with OA experience several oral aversive events, paediatric feeding disorders (PFD) remain poorly described in this population. The primary aim of our study was to describe PFD in children born with OA, using a standardised scale.

The Serum Immunoglobulin E Level: Is There a Relationship With the Clinical Course of the Gianotti-Crosti Syndrome?

Gianotti Crosti syndrome (GCS) is a self-healing condition with a spontaneous resolution in 2-6 weeks but, even if rarely, recurrent episodes have been reported. The aim of this observational study is to investigate serum Immunoglobulin E (IgE) level in children with GCS, evaluating if there is a relationship between IgE level and clinical course of the disease. Children with GCS diagnosed at a tertiary care children's university hospital between June 2018 and November 2019 were prospectively enrolled.

Aorta-to-right ventricle neoshunt closure using an Amplatzer Duct Occluder II device.

We report the case of a 22-year-old female patient with complex congenital heart disease and multiple cardiac surgeries who came to our attention for right heart failure and hemolysis 3 years after aortic valve replacement surgery. She was diagnosed with aorta-to-right ventricle fistula and was efficiently treated with retrograde implantation of an Amplatzer Duct Occluder II device using three-dimensional multimodality fusion imaging.

Associated factors with recurrent wheezing in infants: is there difference between the sexes?

Objective: Identify associated factors for recurrent wheezing (RW) in male and female infants.

Methods: Cross-sectional multicentric study using the standardized questionnaire from the Estudio Internacional sobre Sibilancias en Lactantes (EISL). The questionnaire was applied to parents of 9345 infants aged 12-15 months at the time of immunization/routine visits.

Whole-body MRI in pediatric undefined inflammatory conditions.

Background: Whole-body magnetic resonance imaging (WBMRI) is a multiregional imaging technique suitable for investigating the extent of multisystemic diseases without exposure to radiation, with a high sensitivity to bone alterations. The aim of our study was to evaluate the role of WBMRI in the workup of children with non-specific musculoskeletal features and non-indicative laboratory and instrumental data, who were suspected to have a rheumatologic disease.

Methods: We retrospectively analyzed medical records, including laboratory tests and radiological data of 34 children who had been evaluated due to non-specific musculoskeletal manifestations, for which a WBMRI was prescribed.

Predictors of long-term respiratory insufficiency of exomphalos major.

Introduction: Exomphalos major (EM) is associated with significant morbidity and even mortality with an important risk of long-term pulmonary disease.

Aim: To assess the outcomes of exomphalos in a single tertiary pediatric unit and to identify prognostic factors for patients with respiratory insufficiency who still require ventilatory assistance at six months.

Material And Methods: All infants admitted to our institution over a 10-year period (2005 to 2015) with exomphalos were retrospectively reviewed.

DNA-PK deficiency potentiates cGAS-mediated antiviral innate immunity.

Upon sensing cytosolic DNA, the enzyme cGAS induces innate immune responses that underpin anti-microbial defenses and certain autoimmune diseases. Missense mutations of PRKDC encoding the DNA-dependent protein kinase (DNA-PK) catalytic subunit (DNA-PKcs) are associated with autoimmune diseases, yet how DNA-PK deficiency leads to increased immune responses remains poorly understood. In this study, we report that DNA-PK phosphorylates cGAS and suppresses its enzymatic activity.

Acute viral bronchiolitis as a cause of pediatric acute respiratory distress syndrome.

The Pediatric Acute Lung Injury Consensus Conference (PALICC) published pediatric-specific guidelines for the definition, management, and research in pediatric acute respiratory distress syndrome (PARDS). Acute viral bronchiolitis (AVB) remains one of the leading causes of admission to PICU. Respiratory syncytial virus (RSV) is the most common cause of AVB.

Decreased Human Leukocyte Antigen DR on Circulating Monocytes Expression After Severe Pediatric Trauma: An Exploratory Report.

Objectives: Major trauma in adults induces immune dysfunction, with diminished expression of human leukocyte antigen-DR on circulating monocytes. No pediatric data are available. This study described the kinetics of human leukocyte antigen-DR on circulating monocytes following major pediatric trauma and relationships between human leukocyte antigen-DR on circulating monocytes and outcomes.

Early-onset autoimmunity associated with SOCS1 haploinsufficiency.

Autoimmunity can occur when a checkpoint of self-tolerance fails. The study of familial autoimmune diseases can reveal pathophysiological mechanisms involved in more common autoimmune diseases. Here, by whole-exome/genome sequencing we identify heterozygous, autosomal-dominant, germline loss-of-function mutations in the SOCS1 gene in ten patients from five unrelated families with early onset autoimmune manifestations.

A ten year analysis of maternal deaths in a tertiary hospital using the three delays model.

Background: Reducing maternal mortality ratios (MMRs) remain an important public health issue in Egypt. The three delays model distinguished three phases of delay to be associated with maternal mortality: 1) first phase delay is delay in deciding to seek care; 2) second phase delay is delay in reaching health facilities; and 3) third phase delay is delay in receiving care in health facilities. Increased health services' coverage is thought to be associated with a paradigm shift from first and second phase delays to third phase delay as main factor contributing to MMR.

5% Lidocaine Hydrochloride Cream for Wound Pain Relief: A Multicentre Observational Study.

Background: Lidocaine hydrochloride is frequently used for management of painful wounds. This prospective, multicentre study examined the effects of 5% lidocaine cream on wound pain relief.

Material And Methods: The study included 78 patients with painful wounds treated with 5% Lidocaine cream for two weeks in two Italian Hospitals.