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 …
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
Introduction Invasive meningococcal disease (IMD) is uncommon but still causes
considerable public health burden due to its high mortality and morbidity. This review aims …
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 …
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 …
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
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 …
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 …
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 …
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
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 …
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
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 …
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
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 …
population. Despite its prevalence as a commensal organism, Nm can occasionally invade …