Case Report: Cerebrovascular Events Associated With Bacterial and SARS-CoV-2 Infections in an Adolescent.

Neurologic manifestations associated with Covid-19 are increasingly reported, especially stroke and acute cerebrovascular events. Beyond cardiovascular risk factors associated with age, some young adults without medical or cardiovascular history had stroke as a presenting feature of Covid-19. Suggested stroke mechanisms in this setting are inflammatory storm, subsequent hypercoagulability, and vasculitis.

Efficacy of medical treatments for vernal keratoconjunctivitis: A systematic review and meta-analysis.

Background: Vernal keratoconjunctivitis (VKC) is a severe type of allergic conjunctivitis for which treatment strategies are still under debate.

Objectives: This study sought to conduct a systematic review and meta-analysis to evaluate the efficacy of medical treatments for VKC.

Methods: The PubMed, Cochrane Library, Embase, and ScienceDirect databases were searched to assess the efficacy of treatments for VKC.

Simulation Game Versus Multiple Choice Questionnaire to Assess the Clinical Competence of Medical Students: Prospective Sequential Trial.

Background: The use of simulation games (SG) to assess the clinical competence of medical students has been poorly studied.

Objective: The objective of this study was to assess whether an SG better reflects the clinical competence of medical students than a multiple choice questionnaire (MCQ).

Methods: Fifth-year medical students in Paris (France) were included and individually evaluated on a case of pediatric asthma exacerbation using three successive modalities: high-fidelity simulation (HFS), considered the gold standard for the evaluation of clinical competence, the SG Effic'Asthme, and an MCQ designed for the study.

Recent developments in the management of congenital cataract.

Congenital cataract is a rare eye disease, one of the leading treatable causes of low vision in children worldwide. Hereditary cataracts can be divided in syndromic and non-syndromic cataracts. Early diagnosis in congenital cataracts is key to reach good visual function.

Intravenous pulses of methylprednisolone for infants with severe bronchopulmonary dysplasia and respiratory support after 3 months of age.

Introduction: There are few published data on the efficacy of systemic corticosteroids in preterm infants with very severe forms of bronchopulmonary dysplasia (BPD), requiring respiratory support after 3 months of age. The aim of this study was to report the use of pulses of methylprednisolone in this population and its consequences on the level of respiratory support.

Methods: This retrospective monocentre study included infants over 3 months of age with severe BPD who received at least one pulse of methylprednisolone (300 mg/m /day intravenous [IV] over 3 days).

Heterogeneity in defining fetal corpus callosal pathology: systematic review.

Objective: Fetal anomalies of the corpus callosum (CC) have been reported in the prenatal imaging literature since 1985, and, especially when isolated, pose challenges for both the patient and fetal medicine specialist. The purpose of this study was to review systematically the literature on prenatally diagnosed abnormalities of the CC, focusing on the terminology used to describe abnormalities other than complete agenesis of the CC, and to assess the heterogeneity of the nomenclature and definitions used.

Methods: This study was conducted in accordance with the PRISMA statement for reporting systematic reviews.

ERNICA guidelines for the management of rectosigmoid Hirschsprung's disease.

Background: Hirschsprung's disease (HSCR) is a serious congenital bowel disorder with a prevalence of 1/5000. Currently, there is a lack of systematically developed guidelines to assist clinical decision-making regarding diagnostics and management.

Aims: This guideline aims to cover the diagnostics and management of rectosigmoid HSCR up to adulthood.

Efficacy and tolerability of the investigational topical cream SD-101 (6% allantoin) in patients with epidermolysis bullosa: a phase 3, randomized, double-blind, vehicle-controlled trial (ESSENCE study).

Background: Epidermolysis bullosa (EB) is a rare genetic disorder that manifests as blistering and/or skin erosion. There is no approved treatment for EB; current standard of care consists of wound and pain management. SD-101 6% is a topical cream containing 6% allantoin that was developed for treating skin lesions in patients with EB.

Management of COVID-19-Positive Pediatric Patients Undergoing Minimally Invasive Surgical Procedures: Systematic Review and Recommendations of the Board of European Society of Pediatric Endoscopic Surgeons.

Hospital response to the COVID-19 outbreak has involved the cancellation of elective, deferrable surgeries throughout Europe in order to ensure capacity for emergent surgery and a selection of elective but non-deferrable surgeries. The purpose of this document is to propose technical strategies to assist the pediatric surgeons to minimize the potential aerosolization of viral particles in COVID-19 patients undergoing urgent or emergent surgical treatment using laparoscopic approaches, based on the currently available literature. The situation and recommendations are subject to change with emerging information.

Loss of Function of RIMS2 Causes a Syndromic Congenital Cone-Rod Synaptic Disease with Neurodevelopmental and Pancreatic Involvement.

Congenital cone-rod synaptic disorder (CRSD), also known as incomplete congenital stationary night blindness (iCSNB), is a non-progressive inherited retinal disease (IRD) characterized by night blindness, photophobia, and nystagmus, and distinctive electroretinographic features. Here, we report bi-allelic RIMS2 variants in seven CRSD-affected individuals from four unrelated families. Apart from CRSD, neurodevelopmental disease was observed in all affected individuals, and abnormal glucose homeostasis was observed in the eldest affected individual.

Xq28 copy number gain causing moyamoya disease and a novel moyamoya syndrome.

Background: The molecular anomalies causing moyamoya disease (MMD) and moyamoya syndromes (MMS) are unknown in most patients.

Objective: This study aimed to identify de novo candidate copy number variants (CNVs) in patients with moyamoya.

Methods: Rare de novo CNVs screening was performed in 13 moyamoya angiopathy trios using whole exome sequencing (WES) reads depth data and whole genome high density SNP array data.

Topical sirolimus 0.1% for treating cutaneous microcystic lymphatic malformations in children and adults (TOPICAL): protocol for a multicenter phase 2, within-person, randomized, double-blind, vehicle-controlled clinical trial.

Background: Cutaneous microcystic lymphatic malformations (CMLMs) are rare conditions in children and adults. They present as clusters of vesicles full of lymph and blood to various extents, inducing maceration, esthetic impairment, pain, and impaired quality of life. The treatment is challenging.

Recent innovations with drugs in clinical trials for neurotrophic keratitis and refractory corneal ulcers.

: Corneal ulcers normally resolve spontaneously because of the proliferative ability of the corneal epithelium; however, sometimes, epithelial healing is diminished, even when standard treatments are administered. Hence, the treatment of refractory corneal ulcers is challenging and is the subject of ongoing efforts in preclinical and clinical development. Emerging treatment approaches include thymosine β4, CODA001, and topical insulin.

Educational and health outcomes associated with bronchopulmonary dysplasia in 15-year-olds born preterm.

Introduction: To evaluate the consequences of bronchopulmonary dysplasia (BPD) on academic outcomes and healthcare use in adolescents born very preterm.

Methods: This cohort study included 15-year-old adolescents born very preterm (< 32 weeks) between 2011 and 2013, with and without BPD, and controls born full term. Data regarding academic performance, current medical follow-up, and family characteristics were collected.

The pleiotropy associated with de novo variants in CHD4, CNOT3, and SETD5 extends to moyamoya angiopathy.

Purpose: Moyamoya angiopathy (MMA) is a cerebrovascular disease characterized by occlusion of large arteries, which leads to strokes starting in childhood. Twelve altered genes predispose to MMA but the majority of cases of European descent do not have an identified genetic trigger.

Methods: Exome sequencing from 39 trios were analyzed.

Iatrogenic mediastinitis in bronchiolitis: Importance of avoiding pharyngeal aspiration.

An 11-month-old infant was hospitalized for his first episode of severe bronchiolitis, with pneumomediastinum on the chest x-ray performed in the emergency room before hospitalization. After a few days, the occurrence of a feverish torticollis motivated a CT scan, revealing mediastinitis. An iatrogenic perforation was objectified in the posterior wall of the esophagus, probably caused by nasopharyngeal aspiration.

Arterial ischemic stroke in non-neonate children: Diagnostic and therapeutic specificities.

Pediatric arterial ischemic stroke (AIS) is a severe condition, with long-lasting devastating consequences on motor and cognitive abilities, academic and social inclusion, and global life projects. Awareness about initial symptoms, implementation of pediatric stroke code protocols using MRI first and only and adapted management in the acute phase, individually tailored recanalization treatment strategies, and multidisciplinary rehabilitation programs with specific goal-centered actions are the key elements to improve pediatric AIS management and outcomes. The main cause of pediatric AIS is focal cerebral arteriopathy, a condition with unilateral focal stenosis and time-limited course requiring specific management.

CENTRAL RETINAL VEIN OCCLUSION IN OTHERWISE HEALTHY CHILDREN AND ADOLESCENTS: Association With Multigenetic Variants of Thrombophilia.

Purpose: To report cases of central retinal vein occlusion in otherwise healthy children showing combined genetic variants of thrombophilia.

Methods: Ophthalmological, pediatric records and genetic analyses of thrombophilia-associated variants were retrospectively reviewed in four children diagnosed with central retinal vein occlusion. Genetic screening, including Factor XII, platelet glycoprotein (GP) IIIa PlA1/A2 (rs5918), and GPIa/IIa C807T (rs1126643) and G873A (rs1062535) mutations, was performed by PCR amplification and Sanger sequencing of PCR products.