ABSTRACT
Inflammation in Cystic Fibrosis is higher than bacterial clearance needs and contributes significantly to the deterioration of lung tissue and vital prognosis. Its physiology remains controversial and is more complex than the cycle infection-obstruction-inflammation previously described with many interactions and potentiating of the responsible different mechanisms (Mechanical factors, cells, protease/anti-protease, oxidative stress, leukotriens...). This perpetual inflammatory spiral is an important therapeutic target due to its crucial prognosis.
Subject(s)
Cystic Fibrosis/complications , Cystic Fibrosis/immunology , Pneumonia/etiology , Pneumonia/immunology , Child , HumansABSTRACT
BACKGROUND: We aimed to evaluate the use of central catheters introduced by a peripheral vein (PICC) in children with CF. METHODS: A descriptive study in patients in whom a PICC (Beckton Dickinson) was inserted. RESULTS: 24 children aged (median (range) 10.2 years (0.3-17.3) undergoing 44 procedures were included. PICC was successfully inserted in 93.2% (41/44) of cases. Total procedure duration was (median (range)) 32.5 (10-105) minutes. The operators encountered few difficulties, median (range) 2 (1-10) (1 (absence) to 10 (maximal)); median (range) 1 (1 to 5) attempt per child). No major side effects or infections were observed. PICC obstruction in 5 (12%) cases was successfully unblocked in 4 cases (urokinase). The catheter was functional throughout the antibiotic course in 40/41 cases. A final Doppler scan (30 cases) showed total permeability of the central veins in all cases. Satisfaction index of the operators and the patients were high: median (range) 9.5 (1-10) and 8.0 (6-10) (scale: 1 (worse) to 10 (best)), respectively. CONCLUSION: PICCs are simple to use, and may be safely inserted in the ward. Such catheters are well tolerated, may increase the well-being of children with CF and prove an effective means by which to deliver IV therapy in this population.
Subject(s)
Anti-Bacterial Agents/administration & dosage , Catheterization, Central Venous/methods , Cystic Fibrosis/complications , Pseudomonas Infections/drug therapy , Pseudomonas aeruginosa/isolation & purification , Adolescent , Catheterization, Peripheral , Child , Child, Preschool , Female , Humans , Infant , Male , Prospective Studies , Pseudomonas Infections/etiology , Pseudomonas Infections/microbiologyABSTRACT
BACKGROUND: Germline mosaicism is now well known to account for recurrence of hereditary human disorders. Facioscapulohumeral muscular dystrophy is an autosomal dominant disorder; its locus has been identified in the telomeric region of chromosome 4 at the q35 band. It appears to have a high rate of mutation. CASE REPORT: A young girl had presented from childhood signs of a severe form of facioscapulohumeral muscular dystrophy, but with no familial history. The diagnosis was ultimately confirmed at the age of 23 years by molecular studies evidencing the deletion. The same abnormality was sparsely found in the child's father who appeared to harbor the mutation as a germline mosaicism with no clinical expression. CONCLUSION: This case illustrates the possibility of severe facioscapulohumeral muscular dystrophy and the dominant transmission of the disorder which may be clinically occult. It underlines the importance of molecular biology and the difficulties of genetic counselling.
