The Burkholderia contaminans prevalent phenotypes as possible markers of poor clinical outcomes in chronic lung infection of children with cystic fibrosis.

Burkholderia contaminans, a species of the Burkholderia cepacia complex-prevalent in certain Latin-American and European countries-can cause chronic pulmonary infection in persons with cystic fibrosis. Our aim was to gain insights into long-term lung infections with a focus on correlating how bacterial phenotypic traits in the chronic infection impact on patients' clinical outcome. Genotypic characteristics of 85 B.

[Specific antibody deficiency: cases serie].

Specific antibody deficiency is a common antibody immunodeficiency defined as a poor antibody response to pneumococcal polysaccharides antigens present in the 23-valent pneumococcal vaccine, with normal immunoglobulins and normal response to protein antigens. Clinical manifestations include recurrent sinopulmonary infections, severe infections and asthma. The aim of this presentation is to describe clinical manifestations and evolution of a cohort of children with specific antibody deficiency diagnosed and followed in our center between 1998 and 2012.

[Comparing the clinical-functional state in children with cystic fibrosis detected by neonatal screening or by clinical symptoms].

Introduction: Newborn Screening for Cystic Fibrosis (CF) has demonstrated better clinical and functional results in patients diagnosed and treated prematurely.

Objective: To compare clinical and functional state in children with CF detected by newborn screening or by symptoms.

Patients And Methods: Cross-sectional study.

Late-onset hypoventilation without PHOX2B mutation or hypothalamic abnormalities.

Most children with idiopathic central hypoventilation have symptoms at birth or shortly thereafter and have mutations of the PHOX2B gene. Those whose symptoms appear later usually have obesity and hypothalamic abnormalities. We describe a case of a boy who presented at 5 years of age with severe idiopathic central hypoventilation, but no obesity or hypothalamic abnormalities, and who tested negative for mutation of the PHOX2B gene.