Disruption of NIPBL/Scc2 in Cornelia de Lange Syndrome provokes cohesin genome-wide redistribution with an impact in the transcriptome.

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.

[Effectiveness and safety of two phototherapy devices for the humanised management of neonatal jaundice].

Introduction: 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.

Network Analysis of Lung Transcriptomics Reveals a Distinct B-Cell Signature in Emphysema.

Rationale: 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.

[Preliminary analysis of the relationship between peripheral arterial disease and other atherosclerosis markers and diabetic nephropathy].

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]).

[Surgical therapeutic strategy in vital risk polytrauma with multiple organ injuries, case report].

The medical interest for trauma pathology is incresing, due to the gravity of the given injuries. The surgical therapeutic strategy used is directly related to the localization and to the type of the trauma. The supplementary lesions and their vital risk also matter.

A clinical follow-up study of magnetically retained overdentures (Dyna-system).

This study reports on 99 magnetic retention units (root caps and minimagnets) were used to stabilise overdentures in 66 patients. Tooth mobility, root caries, periodontal health, denture function, integrity of root caps and minimagnets were evaluated 4-12 years after insertion. The results showed a marked reduction in root mobility (increased stability in 86% of the roots), but extraction of 8% of the roots.

Long-term experience with telescopically retained overdentures (double crown technique).

To evaluate the long term results of telescopically retained overdentures, 92 patients with a total of 106 overdentures on 236 teeth were examined after two to eleven years. Thirty-three teeth were lost during the follow-up period. A higher tooth survival rate of the double-crowned teeth was found under mandibular overdentures (92%) than under maxillary overdentures (86%) after five years.

Is management of anesthesia in achondroplastic dwarfs really a challenge?

Study Objective: To review our eight-year anesthetic experience with achondroplastic patients.

Design: Retrospective study.

Setting: University hospital.

[Is the testing for changes in shape of denture base materials meaningful].

The results obtained in measurements of the dimensional behavior of U-shaped specimens correspond to the dimensional behavior of dentures. Part of the dimensional changes found in U-shaped specimens are not observed to the same extent in dentures, but produce interior tension in the denture. The bigger the dimensional changes in the U-shaped specimen, the bigger the dimensional changes in the denture or the tensions in its interior.