Tunneled central venous catheters (CVCs) play an increasing role as vascular access for chronic hemodialysis (HD) in children, but limited data exist about the optimal CVC choice. We analyzed the outcome, efficacy, and complications of tunneled CVCs, placed in our unit in the last 3 years. Nineteen 10 F Split-Cath CVCs (two separate catheters fused along their length) were placed in 10 children, median age 9.
View Article and Find Full Text PDFBackground: Spinal muscular atrophy with respiratory distress type 1 (SMARD1) is a rare autosomal recessive neuromuscular disease of unknown prevalence characterized by degeneration of anterior horn alpha-motoneurons and manifesting in the first 6months of life as life-threatening irreversible diaphragmatic paralysis associated with progressive symmetrical muscular weakness (distal lower limbs mainly involved), muscle atrophy, and peripheral sensory neuropathy.
Setting: Pediatric intensive care unit of tertiary care hospital.
Patients: We present two new cases of SMARD1 and report two new mutations in the gene IGHMBP2 which encodes immunoglobulin mu-binding protein 2 on chromosome 11q13.