High rate of autonomic neuropathy in Cornelia de Lange Syndrome.

BACKGROUND: Cornelia de Lange Syndrome (CdLS) is a rare congenital disorder characterized by typical facial features, growth failure, limb abnormalities, and gastroesophageal dysfunction that may be caused by mutations in several genes that disrupt gene regulation early in development. Symptoms in individuals with CdLS suggest that the peripheral nervous system (PNS) is involved, yet there is little direct evidence. METHOD: Somatic nervous system was evaluated by conventional motor and sensory nerve conduction studies and autonomic nervous system by heart rate variability, sympathetic skin response and sudomotor testing. CdLS Clinical Score and genetic studies were also obtained. RESULTS: Sympathetic skin response and sudomotor test were pathological in 35% and 34% of the individuals with CdLS, respectively. Nevertheless, normal values in large fiber nerve function studies. CONCLUSIONS: Autonomic nervous system (ANS) dysfunction is found in many individuals with Cornelia de Lange Syndrome, and could be related to premature aging.

Chronic respiratory failure in patients with chronic obstructive pulmonary disease under home noninvasive ventilation: Real-life study.

BACKGROUND: Home noninvasive ventilation (NIV) has been increasingly used in stable chronic obstructive pulmonary disease (COPD) with chronic hypercapnic respiratory failure (CHRF). However its effectiveness remains debatable. AIM: To describe a follow-up of COPD patients under home NIV. METHODS: Retrospective descriptive study based on a prospective 3-year database that included COPD patients under home NIV between August 2011 and July 2014. RESULTS: Within the 334 patients initially screened, 109 (32.6%) had COPD with a mean±SD post-bronchodilator FEV1 of 38.6±14.9% predicted; age of 65.6±9.6 years. The mean±SD duration of ventilation was 63.4±51.1 months. Heterogeneous comorbidities that can contribute to CHRF were not excluded: obstructive sleep apnea and obesity were the most prevalent. Sixty-two (56.9%) patients started NIV during admission with acute respiratory failure. During follow-up there was a significant increase in mean inspiratory positive airway pressure (IPAP) and respiratory rate (19.5±4.4 vs. 23.6±5.3cmH2O and 10.7±5.2 vs. 15.2±1.4 breaths/min, respectively, p<0.0001), with a significant improvement in hypercapnia (PaCO2: 52.9±7.7 vs. 49.5±7.5mmHg, p<0.0001), with 93.3% of patients compliant to NIV. Admissions and days spent in hospital for respiratory illness significantly decreased after institution of NIV (respectively, 1.2±1.1 vs. 0.7±1.8 and 15.0±16.8 vs. 8.8±19.4, p<0.001). At final evaluation, patients with severe hypercapnia (n=47; PaCO2 ≥50mmHg) performing NIV at higher pressures (n=30; IPAP ≥25cmH2O) were more compliant (10.1±3.3 vs. 6.1±3.6h/day). Three-year mortality was 24.8% (27 of 109 patients). CONCLUSIONS: This is a real-life retrospective study in COPD patients with CHRF which results suggest benefit from home NIV. For most, NIV was effective and tolerable even at high pressures.