RESUMEN
INTRODUCTION: Although very uncommon, severe injury and death can occur during scuba diving. One of the main causes of scuba diving fatalities is pulmonary barotrauma due to significant changes in ambient pressure. Pathology of the lung parenchyma, such as cystic lesions, might increase the risk of pulmonary barotrauma. AREAS COVERED: Birt-Hogg-Dubé syndrome (BHD), caused by pathogenic variants in the FLCN gene, is characterized by skin fibrofolliculomas, an increased risk of renal cell carcinoma, multiple lung cysts and spontaneous pneumothorax. Given the pulmonary involvement, in some countries patients with BHD are generally recommended to avoid scuba diving, although evidence-based guidelines are lacking. We aim to provide recommendations on scuba diving for patients with BHD, based on a survey of literature on pulmonary cysts and pulmonary barotrauma in scuba diving. EXPERT OPINION: In our opinion, although the absolute risks are likely to be low, caution is warranted. Given the relative paucity of literature and the potential fatal outcome, patients with BHD with a strong desire for scuba diving should be informed of the potential risks in a personal assessment. If available a diving physician should be consulted, and a low radiation dose chest computed tomography (CT)-scan to assess pulmonary lesions could be considered.
Asunto(s)
Barotrauma , Síndrome de Birt-Hogg-Dubé , Quistes , Buceo , Enfermedades Pulmonares , Lesión Pulmonar , Neumotórax , Humanos , Síndrome de Birt-Hogg-Dubé/diagnóstico , Síndrome de Birt-Hogg-Dubé/genética , Síndrome de Birt-Hogg-Dubé/complicaciones , Buceo/efectos adversos , Proteínas Supresoras de Tumor/genética , Neumotórax/genética , Enfermedades Pulmonares/etiología , Quistes/genética , Quistes/patología , Barotrauma/diagnóstico , Barotrauma/complicacionesRESUMEN
Pancreatic lipase catalyses the hydrolysis of emulsified triglycerides to form a transparent solution of monoglycerides and fatty acids. Levels of serum pancreatic lipase were measured in neonates known to have cystic fibrosis and compared with levels in control infants. During the first weeks of life infants with cystic fibrosis had raised serum pancreatic lipase values in parallel with raised serum trypsin values. A simple and specific turbidimetric dried blood spot assay for serum pancreatic lipase was used as a screening test fo cystic fibrosis in the neonate.
Asunto(s)
Fibrosis Quística/epidemiología , Lipasa/sangre , Tamizaje Masivo , Fibrosis Quística/sangre , Fibrosis Quística/enzimología , Humanos , Lactante , Recién Nacido , Páncreas/enzimología , Tripsina/sangreRESUMEN
A quantitative chromatographic method for determining triglycerides in serum is described. The serum is applied directly to a thin-layer plate and after partition with one developing solvent the fractions are charred with 10% sulphuric acid. Charring takes 20 minutes. The concentration of triglycerides is measured against a triolein standard, which in itself is corrected for having too many double bonds by scanning the charring of the triglyceride fraction with a "flying spot"-scanner or a slitscanner. The results are compared with other methods of determination.