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1.
BMC Infect Dis ; 23(1): 338, 2023 May 20.
Artigo em Inglês | MEDLINE | ID: mdl-37210495

RESUMO

BACKGROUND: Bacterial meningitis caused by non-typhoid Salmonella can be a fatal condition which is more common in low and middle-income countries. CASE PRESENTATION: We report the case of a Salmonella meningitis in a Belgian six-month old male infant. The first clinical examination was reassuring, but after a few hours, his general state deteriorated. A blood test and a lumbar puncture were therefore performed. The cerebrospinal fluid analysis was compatible with a bacterial meningitis which was later identified by the NRC (National Reference Center) as Salmonella enterica serovar Durban. CONCLUSIONS: In this paper, we present the clinical presentation, genomic typing, and probable sources of infection for an unusually rare serovar of Salmonella. Through an extended genomic analysis, we established its relationship to historical cases with links to Guinea.


Assuntos
Meningites Bacterianas , Infecções por Salmonella , Lactente , Masculino , Humanos , África do Sul , Infecções por Salmonella/diagnóstico , Infecções por Salmonella/tratamento farmacológico , Infecções por Salmonella/microbiologia , Meningites Bacterianas/diagnóstico , Meningites Bacterianas/microbiologia , Salmonella , Genômica
2.
Pediatr Blood Cancer ; 68(6): e28944, 2021 06.
Artigo em Inglês | MEDLINE | ID: mdl-33773013

RESUMO

BACKGROUND: Children treated for acute lymphoblastic leukemia (ALL) are at high risk of invasive pneumococcal disease (IPD). We assessed immunity to S. pneumoniae among children after ALL treatment, and the impact of pneumococcal immunization during and after chemotherapy. METHODS: We performed an observational retrospective study of children treated for ALL at a single center. All children were fully immunized with three routine doses of pneumococcal conjugate vaccine (PCV) prior to ALL diagnosis. Children from Group 1 received a 13-valent PCV (PCV13) dose during the maintenance phase as well as a PCV13 booster after completing chemotherapy, while Group 2 only received the postchemotherapy dose. Serologic testing was performed after chemotherapy and again after the postchemotherapy dose. A serotype-specific antibody level ≥0.35 µg/ml was considered protective, and patients with protective levels for ≥70% of serotypes in the PCV7 vaccine were defined as seroprotected. RESULTS: A total of 71 children (median age 46 months, range 12-160) were included. At the end of chemotherapy, 53.1% of children in Group 1 (17/32) and 25.6% in Group 2 (10/39) were seroprotected (p = .018). After the postchemotherapy booster, seroprotection rates increased to 96.9% in Group 1 (31/32) and 100% in Group 2. CONCLUSIONS: Rates of pneumococcal seroprotection among children with ALL are low following chemotherapy, despite prior routine immunization. A PCV booster during chemotherapy may shorten the period of susceptibility to IPD in some children. However, irrespective of a booster during chemotherapy, a PCV dose postchemotherapy appears sufficient to confer high rates of seroprotection against IPD.


Assuntos
Infecções Pneumocócicas , Leucemia-Linfoma Linfoblástico de Células Precursoras , Criança , Vacina Pneumocócica Conjugada Heptavalente , Humanos , Lactente , Infecções Pneumocócicas/prevenção & controle , Vacinas Pneumocócicas , Leucemia-Linfoma Linfoblástico de Células Precursoras/tratamento farmacológico , Estudos Retrospectivos , Streptococcus pneumoniae , Vacinação , Vacinas Conjugadas
3.
Eur J Med Genet ; 63(1): 103620, 2020 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-30716475

RESUMO

Cornelia de Lange syndrome is a rare autosomal dominant or X-linked developmental disorder characterized by characteristic facial dysmorphism, intellectual disability, growth retardation, upper limb and multiorgan anomalies. Causative mutations have been identified in five genes coding for the cohesion complex structure components or regulatory elements. Among them, RAD21 is associated with a milder phenotype. Very few RAD21 intragenic mutations have been identified so far. Thus, any new patient is a valuable tool to delineate the associated phenotype. We discuss a new patient with RAD21 confirmed molecular diagnosis and compare his clinical features to those of previously described patients carrying different RAD21 intragenic mutations.


Assuntos
Proteínas de Ciclo Celular/genética , Proteínas de Ligação a DNA/genética , Síndrome de Cornélia de Lange/genética , Deficiências do Desenvolvimento/genética , Deficiência Intelectual/genética , Criança , Síndrome de Cornélia de Lange/patologia , Deficiências do Desenvolvimento/patologia , Humanos , Deficiência Intelectual/patologia , Masculino , Mutação/genética , Fenótipo
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