Prevention of chronic pneumonia in children with severe motor and intellectual disabilities by long-term tobramycin inhalation: Its benefits and limitations.

Aim: To determine the effect of long-term tobramycin (TOB) inhalation therapy on recurrent pneumonia among ventilator-dependent children with profound neurological disabilities.

Methods: TOB inhalation was performed in eight series of trials in seven ventilator-dependent children who had intratracheal Pseudomonas aeruginosa and suffered from recurrent pneumonia. Their age at the initiation of therapy was 68 ± 50 months (mean ± standard deviation), whereas the duration of treatment was 30 ± 22 months.

Progressive cerebral atrophies in three children with COL4A1 mutations.

Background: The collagen type IV alpha 1 chain (COL4A1) gene on 13q34 encodes one chain of collagen. COL4A1 mutations have been identified as the cause of a group of multisystemic conditions in humans, including the brain, eyes, kidneys, muscles, and other organs at any age. Brain imaging shows a wide spectrum of abnormalities, including porencephaly, schizencephaly, polymicrogyria focal cortical dysplasia, periventricular leukoencephalopathy, ventricular dysmorphisms, and multiple brain calcifications.

Identification of sleep hypoventilation in young individuals with Becker muscular dystrophy: A pilot study.

Aim: To report on sleep hypercapnia in Becker muscular dystrophy (BMD) at earlier stages than ever recognized.

Subjects And Methods: This retrospective study examined nocturnal hypercapnia in six young Becker muscular dystrophy (BMD) patients with deletions of one or more exons of DMD gene. Clinical information, consecutive data on forced vital capacity (FVC%), forced expiratory volume in one second (FEV1%), peak expiratory flow (PEF%), peak cough flow (PCF), average PCO in all-night monitoring, and left ventricular ejection fraction (LVEF) were reviewed.