Update to the PRISMA guidelines for network meta-analyses and scoping reviews and development of guidelines for rapid reviews: a scoping review protocol.

Objective: The objective of this scoping review is to develop a list of items for potential inclusion in the Preferred Reporting Items for Systematic reviews and Meta-Analyses (PRISMA) reporting guidelines for network meta-analysis (NMA), scoping reviews (ScRs), and rapid reviews (RRs).

Introduction: The PRISMA extensions for NMA and ScRs were published in 2015 and 2018. However, since then, their methodologies and innovations, including automation, have evolved.

Clinical exome sequencing data from patients with inborn errors of immunity: Cohort level diagnostic yield and the benefit of systematic reanalysis.

While next generation sequencing has expanded the scientific understanding of Inborn Errors of Immunity (IEI), the clinical use and re-use of exome sequencing is still emerging. We revisited clinical exome data from 1300 IEI patients using an updated in silico IEI gene panel. Variants were classified and curated through expert review.

Evidence-based decision-making in the treatment of speech, language, and communication disorders in Down syndrome; a scoping review.

This scoping review examined available scientific evidence according to the PRISMA-ScR guideline on the subject of treatment interventions by speech and language therapists of speech, language, and communication needs in people with Down syndrome. A literature search in PubMed, Embase, Cinahl, Cochrane, and Web of Science yielded 41 studies suitable for inclusion. All studies examined the effect of an intervention in speech, language or communicative behaviour, alone or in combination.

Clinical Symptoms, Laboratory Parameters and Long-Term Follow-up in a National DADA2 Cohort.

Deficiency of adenosine deaminase-2 (DADA2) is an autosomal recessive autoinflammatory disease with an extremely variable disease presentation. This paper provides a comprehensive overview of the Dutch DADA2 cohort. We performed a retrospective cohort study in 29 ADA2-deficient patients from 23 families with a median age at inclusion of 26 years.

Increased rate of respiratory symptoms in children with Down syndrome: a 2-year web-based parent-reported prospective study.

To compare the incidence of respiratory symptoms and short-term consequences between children with Down syndrome and children from the general population, we conducted a prospective parent-reported observational study. Children with Down syndrome (≤ 18 years) were included between March 2012 and June 2014. Caregivers received a baseline questionnaire with follow-up 1-2 years after inclusion.

Management of severe neonatal respiratory distress due to vertical transmission of severe acute respiratory syndrome coronavirus 2: a case report.

Background: Neonates with severe acute respiratory syndrome coronavirus 2 infection are usually asymptomatic or have mild to moderate symptoms. Acute respiratory distress syndrome due to severe acute respiratory syndrome coronavirus 2 with respiratory insufficiency is rare. Therefore, information about the best intensive care strategy for neonates requiring mechanical ventilation is lacking.

Lessons learned from the diagnostic work-up of a patient with the bare lymphocyte syndrome type II.

A patient presented severe combined immunodeficiency (SCID)-like symptoms. The presence of a substantial number of CD4 T-cells in the peripheral blood was not explained by maternal engraftment. Genetic analysis revealed a novel RFXANK mutation, c.

Rotavirus Vaccine Safety and Effectiveness in Infants With High-Risk Medical Conditions.

Objectives: Rotavirus vaccination has 87% to 100% effectiveness against severe rotavirus acute gastroenteritis (AGE) in healthy infants in high-income countries. Little is known whether infants with medical risk conditions (MRCs) are equally protected and if the vaccine is equally well tolerated. We conducted a quasi-experimental prospective multicenter before-after cohort study to assess the vaccine effectiveness (VE) and safety profile of the human rotavirus vaccine (HRV) among MRC infants that required prolonged or frequent postnatal care.

Phenotypic variability including Behçet's disease-like manifestations in DADA2 patients due to a homozygous c.973-2A>G splice site mutation.

Objectives: To describe phenotypic and functional characteristics of patients with the homozygous c.973-2A>G splice site mutation in the adenosine deaminase 2 (ADA2) gene (rs139750129), resulting in deficiency of ADA2 (DADA2).

Methods: We present case synopses of six patients from three unrelated families.

Exome sequencing in routine diagnostics: a generic test for 254 patients with primary immunodeficiencies.

Background: Diagnosis of primary immunodeficiencies (PIDs) is complex and cumbersome yet important for the clinical management of the disease. Exome sequencing may provide a genetic diagnosis in a significant number of patients in a single genetic test.

Methods: In May 2013, we implemented exome sequencing in routine diagnostics for patients suffering from PIDs.

Booklet for Childhood Fever in Out-of-Hours Primary Care: A Cluster-Randomized Controlled Trial.

Purpose: Fever is the most common reason for a child to be taken to a physician, yet the level of unwarranted antibiotic prescribing remains high. We aimed to determine the effect on antibiotic prescribing of providing an illness-focused interactive booklet on fever in children to out-of-hours primary care clinicians.

Methods: We conducted a cluster-randomized controlled trial in 20 out-of-hours general practice centers in the Netherlands.

[Myosotis in children with flu; a rare complication of influenza].

Influenza is a common viral infection, which occurs in yearly endemics during the winter period. Complications are mostly seen amongst the elderly, but may also be seen in previously healthy children; the airways and central nervous system, in particular, may be affected. Another complication of influenza, first described in 1957 and only sporadically discussed, is influenza associated myositis (IAM).

Human perinatal immunity in physiological conditions and during infection.

The intrauterine environment was long considered sterile. However, several infectious threats are already present during fetal life. This review focuses on the postnatal immunological consequences of prenatal exposure to microorganisms and related inflammatory stimuli.

An illness-focused interactive booklet to optimise management and medication for childhood fever and infections in out-of-hours primary care: study protocol for a cluster randomised trial.

Background: Fever is the most common reason for a child to be taken to a general practitioner (GP), especially during out-of-hours care. It is mostly caused by self-limiting infections. However, antibiotic prescription rates remain high, especially during out-of-hours care.

Host immune response to tuberculous meningitis.

Background: Tuberculous meningitis (TBM) is a severe complication of tuberculosis predominantly affecting young children. Early treatment is vital to prevent morbidity and mortality, emphasizing the importance of early diagnosis. The lack of sensitive methods for early diagnosis is the most common cause of delay.

[Extensive joint problems in a child].

A twelve-year-old girl was admitted to the paediatric department with progressive joint problems following a mild trauma. Diagnostic follow-up showed a Staphylococcus aureus infection. Generally, S.

Diagnosis of viral gastroenteritis in children: interpretation of real-time PCR results and relation to clinical symptoms.

Molecular methods such as real-time polymerase chain reaction (PCR) are rapidly replacing traditional tests to detect fecal viral pathogens in childhood diarrhea. This technique has now increased the analytical sensitivity so drastically that positive results are found in asymptomatic children, leading to complex interpretation of real-time PCR results and difficult distinction between asymptomatic shedding and etiological cause of disease. We performed a review of the literature including pediatric studies using real-time PCR and a minimal inclusion period of one year to exclude bias by seasonality.

[Risks and benefits of paracetamol in children with fever].

Worldwide, paracetamol is the most commonly used antipyretic for children and the drug of first choice for reducing fever named in the majority of practice guidelines. However, whether or not it is necessary or desirable to treat fever is questionable. The provision of accurate information on the causes and treatment of fever can decrease the help-seeking behaviour of parents.

Single nucleotide polymorphisms in pathogen recognition receptor genes are associated with susceptibility to meningococcal meningitis in a pediatric cohort.

Bacterial meningitis (BM) is a serious infection of the central nervous system, frequently occurring in childhood and often resulting in hearing loss, learning disabilities, and encephalopathy. Previous studies showed that genetic variation in innate immune response genes affects susceptibility, severity, and outcome of BM. The aim of this study is to describe whether single nucleotide polymorphisms (SNPs) in pathogen recognition gene products are associated with susceptibility to develop BM in single genes analysis as well as SNP combinations.

Polymorphisms in Toll-like receptors 2, 4, and 9 are highly associated with hearing loss in survivors of bacterial meningitis.

Genetic variation in innate immune response genes contributes to inter-individual differences in disease manifestation and degree of complications upon infection. We recently described an association of single nucleotide polymorphisms (SNPs) in TLR9 with susceptibility to meningococcal meningitis (MM). In this study, we investigate the association of SNPs in multiple pathogen recognition and immune response genes with clinical features that determine severity and outcome (especially hearing loss) of childhood MM and pneumococcal meningitis (PM).

Toll-like receptor 9 polymorphisms are associated with severity variables in a cohort of meningococcal meningitis survivors.

Background: Genetic variation in immune response genes is associated with susceptibility and severity of infectious diseases. Toll-like receptor (TLR) 9 polymorphisms are associated with susceptibility to develop meningococcal meningitis (MM). The aim of this study is to compare genotype distributions of two TLR9 polymorphisms between clinical severity variables in MM survivors.