Cornelia de Lange syndrome (CdLS) is a rare disease affecting multiple organs and systems during development. Mutations in the cohesin loader, NIPBL/Scc2, were first described and are the most frequent in clinically diagnosed CdLS patients. The molecular mechanisms driving CdLS phenotypes are not understood.
View Article and Find Full Text PDFIntroduction: Neonatal jaundice is common, especially in premature infants. Compliance with treatment protocols and standard serum bilirubin curves forces the clinician to separate the child from the mother after birth for short phototherapy. The objective of this study is to evaluate the effectiveness and safety of two innovative devices for phototherapy including a LED light mesh: one sleeping bag and one blanket compared to conventional hospital or ambulatory phototherapy.
View Article and Find Full Text PDFRationale: Chronic obstructive pulmonary disease (COPD) is characterized by chronic airflow limitation caused by a combination of airways disease (bronchiolitis) and parenchymal destruction (emphysema), whose relative proportion varies from patient to patient.
Objectives: To explore and contrast the molecular pathogenesis of emphysema and bronchiolitis in COPD.
Methods: We used network analysis of lung transcriptomics (Affymetrix arrays) in 70 former smokers with COPD to compare differential expression and gene coexpression in bronchiolitis and emphysema.
Objectives: To determine lipid serum levels, lipoproteins and other markers related to nephropathy and peripheral arterial disease (PAD) in a type 2 diabetes population stratified according to their level of renal dysfunction.
Methods: A cross-sectional study was conducted on 72 type 2 diabetic patients followed-up in outpatient clinics. Patients were divided into 4 groups according to their estimated glomerular filtration rate (eGFR, mL/min) and albumin/creatinine ratio (ACR, mg/g) (eGFR > 60 and ACR < 30 [n = 23], eGFR > 60 and ACR > 30 [n = 12], eGFR30-60 [n = 23] and eGFR < 30 [n = 14]).