Paediatric genomics: diagnosing rare disease in children

CF Wright, DR FitzPatrick, HV Firth - Nature Reviews Genetics, 2018 - nature.com
The majority of rare diseases affect children, most of whom have an underlying genetic
cause for their condition. However, making a molecular diagnosis with current technologies …

Case fatality rates of invasive meningococcal disease by serogroup and age: a systematic review and meta-analysis

B Wang, R Santoreneos, L Giles, HHA Afzali… - Vaccine, 2019 - Elsevier
Introduction Invasive meningococcal disease (IMD) is uncommon but still causes
considerable public health burden due to its high mortality and morbidity. This review aims …

Meningococcal disease and the complement system

LA Lewis, S Ram - Virulence, 2014 - Taylor & Francis
Despite considerable advances in the understanding of the pathogenesis of meningococcal
disease, this infection remains a major cause of morbidity and mortality globally. The role of …

Bloodstream infections

RM Martinez, DM Wolk - Diagnostic Microbiology of the …, 2016 - Wiley Online Library
Bloodstream infections (BSIs) and sepsis rank among the top reasons for human mortality
for hospitalized patients. The full breadth of sepsis syndromes are particularly dangerous to …

Distribution of the type III DNA methyltransferases modA, modB and modD among Neisseria meningitidis genotypes: implications for gene regulation and virulence

A Tan, DMC Hill, OB Harrison, YN Srikhanta… - Scientific Reports, 2016 - nature.com
Neisseria meningitidis is a human-specific bacterium that varies in invasive potential. All
meningococci are carried in the nasopharynx, and most genotypes are very infrequently …

The meta-genome of sepsis: host genetics, pathogens and the acute immune response

JH Boyd, JA Russell, CD Fjell - Journal of Innate Immunity, 2014 - karger.com
Severe infection and the patient response constitute sepsis. Here, we review the meta-
genome (patient genetics, pathogen communities and host response) and its impact upon …

Comparative Genome Sequencing Reveals Within-Host Genetic Changes in Neisseria meningitidis during Invasive Disease

J Klughammer, M Dittrich, J Blom, V Mitesser, U Vogel… - PloS one, 2017 - journals.plos.org
Some members of the physiological human microbiome occasionally cause life-threatening
disease even in immunocompetent individuals. A prime example of such a commensal …

Classification of Neisseria meningitidis genomes with a bag-of-words approach and machine learning

M Podda, S Bonechi, A Palladino, M Scaramuzzino… - Iscience, 2024 - cell.com
Whole genome sequencing of bacteria is important to enable strain classification. Using
entire genomes as an input to machine learning (ML) models would allow rapid …

Structure-function relationships of the Neisserial EptA enzyme responsible for phosphoethanolamine decoration of lipid A: rationale for drug targeting

CM Kahler, KL Nawrocki, A Anandan… - Frontiers in …, 2018 - frontiersin.org
Bacteria cause disease by two general mechanisms: the action of their toxins on host cells
and induction of a pro-inflammatory response that can lead to a deleterious …

[HTML][HTML] Interplay between virulence and variability factors as a potential driver of invasive meningococcal disease

E Siena, M Bodini, D Medini - Computational and structural biotechnology …, 2018 - Elsevier
Neisseria meningitidis (Nm) is frequently found in the upper respiratory tract of the human
population. Despite its prevalence as a commensal organism, Nm can occasionally invade …