Long-range genomic regulators of THBS1 and LTBP4 modify disease severity in duchenne muscular dystrophy.

Objective: Duchenne muscular dystrophy (DMD) is a severe X-linked recessive disease caused by loss-of-function dystrophin (DMD) mutations in boys, who typically suffer loss of ambulation by age 12. Previously, we reported that coding variants in latent transforming growth factor beta (TGFβ)-binding protein 4 (LTBP4) were associated with reduced TGFβ signaling and prolonged ambulation (p = 1.0 × 10 ) in DMD patients; this result was subsequently replicated by other groups.

Fine Needle Aspiration of Thyroid Nodules Using the Bethesda System for Reporting Thyroid Cytopathology: An Institutional Experience in a Rural Setting.

Fine needle aspiration (FNA) remains the first-line diagnostic in management of thyroid nodules and reduces unnecessary surgeries. However, it is still challenging since cytological results are not always straightforward. This study aimed to examine the results of thyroid FNA using the Bethesda system for reporting thyroid cytopathology (TBSRTC) to establish the level of accuracy of FNA procedures in a rural practice setting.

The first exon duplication mouse model of Duchenne muscular dystrophy: A tool for therapeutic development.

Exon duplication mutations account for up to 11% of all cases of Duchenne muscular dystrophy (DMD), and a duplication of exon 2 is the most common duplication in patients. For use as a platform for testing of duplication-specific therapies, we developed a mouse model that carries a Dmd exon 2 duplication. By using homologous recombination we duplicated exon 2 within intron 2 at a location consistent with a human duplication hotspot.

Simulation study of nasotracheal and orotracheal fiberoptic intubation with the Aintree Intubation Catheter.

Aim: Fiber-optic tracheal intubation is an essential technique to secure the airway for difficult airway and cervical cord injury victims. However, there is an anxiety about the vocal cord passage of tracheal tubes because of the potential of collision with the surroundings of the vocal cords. This study aimed to examine the utility of the Aintree Intubation Catheter in nasotracheal and orotracheal intubation.

Simulation analysis of three intubating supraglottic devices during infant chest compression.

Current guidelines for pediatric cardiopulmonary resuscitation suggest that supraglottic devices are alternatives for tracheal intubation with minimal interruption of chest compression. We examined the utility of three intubating supraglottic devices, air-Q® (air-Q), Ambu® aura-i (aura-i), and i-gel® (i-gel), utilizing manikin simulation. Twenty-two novice physicians performed securing of airway on an infant manikin with the three devices.