ABSTRACT
A study of plasmatic fatty acids was carried out on a group of paediatric patients suffering from cystic fibrosis. These data have been compared with those obtained by others authors. High levels of saturated fatty acids and a reduction of polyunsaturates have been found. The ratio of eicosatrienoic acid to arachidonic acid is high in this group of patients, which indicates a certain lack of essential fatty acids.
Subject(s)
Cystic Fibrosis/blood , Fatty Acids/blood , 8,11,14-Eicosatrienoic Acid/blood , Adolescent , Arachidonic Acid , Arachidonic Acids/blood , Child , Child, Preschool , Cystic Fibrosis/complications , Dietary Fats/metabolism , Female , Humans , Infant , Linoleic Acid , Linoleic Acids/blood , Male , Nutrition Disorders/blood , Nutrition Disorders/etiologyABSTRACT
The authors describe two new cases of Menkes' syndrome, both of which belong to the same family. Clinically, one of them began with a convulsive encephalopathy and the most significant features observed in the other were psychomotor delay and changes in the hair. In both cases, the quantity of copper and ceruloplasmin was very low. A description is given of the clinical, electroencephalographic and radiological findings and a microscopic study of the hair. One of them died at the age of 16 months and the other is at present 2 5/12 years old and demonstrates a serious psychomotor delay. Given the inefficiency of the treatment, genetic counsel and prenatal diagnosis are the only useful alternatives for the control of this phenomenon.
Subject(s)
Brain Diseases, Metabolic/genetics , Menkes Kinky Hair Syndrome/genetics , Carotid Arteries/diagnostic imaging , Child, Preschool , Humans , Infant , Male , Pedigree , UrographyABSTRACT
An analysis is carried out of the findings from the radioisotopic lung scans of 16 children suffering from cystic fibrosis (CF), 10 boys and 6 girls, with an age range of between 3.5 and 14.2 years and an evolution time of between 1.2 and 9.9 years. The radioisotopic lung scan study shows lung perfusion defects in 14 of the 16 children (87%), the pulmonary vertices being more greatly affected, especially in the left lung (81%). We revised current aspects of radioisotopic lung scanning in paediatrics and evaluated the great importance of this test as a means of detecting CF and its evolution.
Subject(s)
Cystic Fibrosis/diagnostic imaging , Lung/diagnostic imaging , Adolescent , Child , Child, Preschool , Female , Humans , Male , Radionuclide Imaging , Technetium Tc 99m Aggregated AlbuminABSTRACT
The authors present a system for the appraisal of the nutritional and inflammatory condition in patients suffering from cystic fibrosis (CF) in the phase of apparent inactivity of pulmonary infection, using a system of indices based on the quantification of some plasmatic proteins. The plasmatic appraisals of 4 visceral proteins (albumin, thyroxine-binding prealbumin, retinol-binding protein and transferrin) and, as well, of 5 proteins of the acute phase (alpha-1-acid glycoprotein, alpha-1-antitrypsin, alpha-2-macroglobulin, haptoglobin and ceruloplasmin) were obtained in a control group of 16 healthy children and in another of 14 children affected by CF. With the proteic plasmatic appraisals of the control group, the knowledge of their biological value and after a statistical-mathematical analysis, the most sensitive, specific and independent proteins were determined for evaluating the nutritional and inflammatory condition, obtaining two simple formulas which were denominated Nutritional-Inflammatory Prognostic Indices (NIPI) A and B (NIPI A = alpha-1-acid glycoprotein + haptoglobin/albumin + prealbumin; NIPI B = haptoglobin/albumin). From the analysis of the results, it can be deduced that the children with CF are affected by an inflammatory process, very probably infectious.
