[The use of polymerase chain reaction in the diagnosis of invasive meningococcal disease]. / La reacción en cadena de la polimerasa en el diagnóstico de la enfermedad meningocócica invasiva.

INTRODUCTION AND OBJECTIVES AND AIMS: Invasive meningococcal disease (IMD) remains a serious public health problem. Although culture is the gold standard, previous antibiotic therapy reduces its sensibility. The aim of this study is the epidemiological analysis of IMD in our area, to assess the usefulness of polymerase chain reaction (PCR) to increase its diagnostic accuracy,and to show the association of antibiotic administration with the negative result of the culture. PATIENTS AND METHODS: A retrospective study was conducted on all children younger than 16 years with microbiologically (positive culture and/or PCR) confirmed IMD, admitted to our hospital between 2004-2012. RESULTS: Seventy-five patients were included, of whom 52% had sepsis, 30.7% meningitis, and 17.3% with both of them. PCR was positive in all samples, whereas a positive was seen 50.7% of the cultures. Previously administered antibiotic was documented in 40 patients (53.3%), and 40% of them were confirmed by PCR only. CONCLUSIONS: PCR was the only test providing evidence for IMD diagnosis and serogroup determination in almost 39% of cases.

Skeletal aspects of Gaucher disease: a review.

In Gaucher disease, a genetic deficiency in the activity of the lysosomal enzyme beta-glucocerebrosidase (acid beta-glucosidase) causes monocytes and macrophages to store excessive amounts of glucocerebroside in lysosomes. The resulting distended cells are called Gaucher cells, and the pathology associated with this condition stems from the accumulation of Gaucher cells in organ systems. The skeletal manifestations are probably the most disabling aspect of the disease. Patients commonly experience bone pain, some suffer bone crises, and up to 20% have impaired mobility. Radiological findings include Erlenmeyer flask deformity, osteopenia, osteosclerosis, osteonecrosis, fractures and bone marrow infiltration. Findings from the Gaucher Registry show that nearly all patients with Gaucher disease have radiological evidence of skeletal involvement, and the majority have a history of serious skeletal complications. Skeletal involvement follows three basic processes: focal disease (irreversible lesions such as osteonecrosis and osteosclerosis), local disease (reversible abnormalities adjacent to heavily involved marrow such as cortical thinning and long bone deformity) and generalized osteopenia. Infarctions are involved in some of the skeletal manifestations, but the mechanisms causing high rates of bone turnover and failure of remodelling are not known. The availability of a beta-glucocerebrosidase-deficient mouse model of Gaucher disease with long-term survival should help elucidate the skeletal pathology in Gaucher disease and may ultimately lead to improved management of skeletal complications.

Response of Gaucher bone disease to enzyme replacement therapy.

In Gaucher disease, enzyme replacement therapy usually reduces liver and spleen volumes and improves haematological abnormalities within 1 year. In contrast, skeletal manifestations of Gaucher disease are thought to respond more slowly. For example, decreased bone marrow glycolipid infiltration and increased bone mineral density have been reported to take up to 3-4 years of treatment. In this report, we present recent studies using T1- and T2-weighted MRI and quantitative chemical shift imaging that demonstrate decreases in abnormal glucocerebroside infiltration and increases in normal fat content of bone marrow within the first year of treatment. There was no obvious relationship between age, gender, splenectomy status or genotype and the response of bone marrow to therapy. Although the dose of enzyme replacement therapy may be related to bone marrow response, no significant relationship was demonstrated in this report. Long-term enzyme replacement therapy induces continued degradation of Gaucher cell deposits, reconversion of fat marrow and increased bone mineral density. This treatment is also associated with improved or non-progressive bone symptoms and functional status in most adult patients, and it prevents the new occurrence of bone pain and bone crisis in nearly all patients. The development of more sensitive, quantitative imaging methods will help to evaluate disease severity better and to assess the response to therapy.

[Spinal pseudoarthrosis in ankylosing spondylitis]. / Pseudoartrosis vertebral en la espondilitis anquilosante.

Spinal pseudoarthrosis is an uncommon complication in patients with advanced ankylosing spondylitis which consists in destruction of the discovertebral junction. Two cases of spinal pseudoarthrosis at the thoracolumbar level after a spontaneous fall are reported. Because of the neural arch involvement and the spinal cord compression a stabilization was required. Different imaging techniques are complementaries in the study of this entity, conventional radiographs and computed tomography may depicte bone abnormalities, but magnetic resonance allows a correct evaluation of spinal cord and soft tissue involvement.

[Incidence of central line-associated bloodstream infection in an intensive care unit]. / Incidencia de bacteriemia asociada a catéter venoso central en una unidad de cuidados intensivos.

BACKGROUND: Central line-associated bloodstream infection (CLABSI) is one of the most common nosocomial infections. The incidence is higher in paediatric patients than in adults, especially in those admitted to Intensive Care Units (ICU). CLABSI-related morbidity makes it a major health problem; therefore it is necessary to develop prevention strategies against it. PATIENTS AND METHODS: An intervention study in a paediatric ICU (PICU) was performed, in order to assess the impact of the introduction of the program «Bacteraemia zero¼ in December 2007. This program aims to prevent CLABSI. Demographic data and variables related to hospitalisation and infection were collected from January to December 2007 (before the intervention) and from January to December 2008 (after the intervention), and were compared. In the first period, 497 patients were studied, and 495 in the second. RESULTS: A reduction of 30.4% in the incidence of CLABSI (P=0.49) in the second year was observed (5.5 to 3.8 episodes per 1000 catheter-days). The CVC use ratio was 0.59 and 0.64, respectively. The most frequently isolated organism was coagulase-negative Staphylococcus spp. CONCLUSIONS: The implementation of a «no bacteraemia¼ program, involving all staff in the PICU as well as the professionals in infection control, reduces the incidence of CLABSI.