RESUMO
Legionella longbeachae, found in soil and compost-derived products, is a globally underdiagnosed cause of Legionnaires' disease. We conducted a case-control study of L. longbeachae Legionnaires' disease in Canterbury, New Zealand. Case-patients were persons hospitalized with L. longbeachae pneumonia, and controls were persons randomly sampled from the electoral roll for the area served by the participating hospital. Among 31 cases and 172 controls, risk factors for Legionnaires' disease were chronic obstructive pulmonary disease, history of smoking >10 years, and exposure to compost or potting mix. Gardening behaviors associated with L. longbeachae disease included having unwashed hands near the face after exposure to or tipping and troweling compost or potting mix. Mask or glove use was not protective among persons exposed to compost-derived products. Precautions against inhaling compost and attention to hand hygiene might effectively prevent L. longbeachae disease. Long-term smokers and those with chronic obstructive pulmonary disease should be particularly careful.
Assuntos
Legionella longbeachae , Legionelose/epidemiologia , Legionelose/microbiologia , Estudos de Casos e Controles , Comorbidade , Meio Ambiente , Humanos , Nova Zelândia/epidemiologia , Vigilância da População , Fatores de Risco , FumarRESUMO
Growth deficiency, psychomotor delay, and facial dysmorphism was originally described in a male patient in 1989 by Wiedemann et al. and later in 2000 by Steiner et al. Wiedemann-Steiner syndrome (WSS) has since been described only a few times in the literature, with the phenotypic spectrum both expanding and becoming more delineated with each patient reported. We report on the clinical and molecular features of monozygotic twins with a de novo mutation in KMT2A. Single nucleotide polymorphism (SNP) microarray was done on both twins and whole-exome sequencing was done using both parents and one of the affected twins. SNP microarray confirmed that they were monozygotic twins. A de novo heterozygous variant (p. Arg1083*) in the KMT2A gene was identified through whole-exome sequencing, confirming the diagnosis of WSS. In this study, we have identified a de novo mutation in KMT2A associated with psychomotor developmental delay, facial dysmorphism, short stature, hypertrichosis cubiti, and small kidneys. This finding in monozygotic twins gives specificity to the WSS. The description of more cases of WSS is needed for further delineation of this condition. Small kidneys with normal function have not been described in this condition in the medical literature before.
Assuntos
Anormalidades Múltiplas/genética , Contratura/genética , Doenças em Gêmeos/genética , Transtornos do Crescimento/genética , Histona-Lisina N-Metiltransferase/genética , Deficiência Intelectual/genética , Microcefalia/genética , Proteína de Leucina Linfoide-Mieloide/genética , Polimorfismo de Nucleotídeo Único/genética , Gêmeos Monozigóticos/genética , Criança , Exoma/genética , Fácies , Feminino , Predisposição Genética para Doença/genética , Heterozigoto , Humanos , SíndromeRESUMO
BACKGROUND: Vaccines against Haemophilus influenzae type B (Hib), Neisseria meningitidis and Streptococcus pneumoniae have been serially introduced into the New Zealand national immunization schedule since the 1990s. This study aimed to describe long-term trends in the rates of these invasive bacterial infections in children from New Zealand and compare these to recent UK data. METHODS: This population-based observational study used 2 national datasets that collect data about hospital discharges (National Minimum Dataset) and notifiable diseases (Epurv). Annual age-specific and age-standardized hospital admission rates and notification rates were analyzed for all children <15 years of age. RESULTS: Hospital admissions for Hib reduced by 79% during the 2 years after the introduction of the Hib vaccine (5.94-1.24/100,000). Meningococcal disease notifications fell by 75% over 8 years after the introduction of MeNZB vaccine (26.15-2.48/100,000) and have continued to decline. Meningococcal disease rates were lower than in the United Kingdom despite the absence of an ongoing meningococcal vaccination program in New Zealand (8.16 compared with 10.37/100,000 for 2007-2011). There rates of notifications and hospital admissions for pneumococcal disease were discordant, but both reduced substantially after the introduction of pneumococcal conjugate vaccines. Maori children had the highest rates of disease and the greatest reduction in rates after the introduction of both meningococcal and pneumococcal vaccines. CONCLUSIONS: Vaccines have had a substantial impact on the rates of invasive bacterial disease in children from New Zealand because of Hib, pneumococcus and meningococcus. Reductions in rates of disease have been greatest in Maori children, improving longstanding disparities in disease burden.