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.

Clinical phenotypes as predictors of the outcome of skipping around DMD exon 45.

Objective: Exon-skipping therapies aim to convert Duchenne muscular dystrophy (DMD) into less severe Becker muscular dystrophy (BMD) by altering pre-mRNA splicing to restore an open reading frame, allowing translation of an internally deleted and partially functional dystrophin protein. The most common single exon deletion-exon 45 (Δ45)-may theoretically be treated by skipping of either flanking exon (44 or 46). We sought to predict the impact of these by assessing the clinical severity in dystrophinopathy patients.

Comparison of the Miller Laryngoscope and Videolaryngoscope for Tracheal Intubation by Novice Doctors during Neonatal Cardiopulmonary Resuscitation: A Randomized Crossover Simulation Trial.

Objective: Recent guidelines for neonatal cardiopulmonary resuscitation emphasize the importance of adequate ventilation. In cases of failed resuscitation with positive pressure ventilation, tracheal intubation and chest compressions are recommended. The present study compared the utility of the Miller laryngoscope (Mil) and the videolaryngoscope Pentax-AWS Airway Scope (AWS; Hoya, Tokyo, Japan) with an infant or neonatal-sized Intlock (AWS-N; Pentax) during chest compressions on a neonatal manikin.

Comparison of insertion of the modified i-gel airway for oral surgery with the LMA Flexible: a manikin study.

We previously modified the i-gel airway to enable its use in the field of oral and maxillofacial surgery and reported its fabrication methods. In general, the standard i-gel airway is quick to insert and has a high success rate, but the modified i-gel airway has yet to be assessed for these attributes. We, therefore, set out to compare the ease of insertion of the modified i-gel airway with the LMA Flexible to investigate the usefulness of the modified i-gel airway.

Significance of debriefing methods in simulation-based sedation training courses for medical safety improvement in Japan.

Based on the American Society of Anesthesiologists' Practice Guidelines for Sedation and Analgesia by Non-Anesthesiologists (ASA-SED), a sedation training course aimed at improving medical safety was developed by the Japanese Association for Medical Simulation in 2011. This study evaluated the effect of debriefing on participants' perceptions of the essential points of the ASA-SED. A total of 38 novice doctors participated in the sedation training course during the research period.

[Refinement of the simulation-based sedation training course based on sedation and analgesia guidelines for non-anesthesiologists by American Society of Anesthesiologists].

We report the refinement of the simulation-based sedation training course (SEDTC) hosted by the Japanese Association of Medical Simulation, and the drafting and development of an learning goal and instructor course. In basic airway management training, we highlighted the importance of the "call for help" and oxygen supply. In card-based simulation training sessions, we posted a picture detailing recommended amounts of oxygen and the duration of its use.

[Verification of complete blood cell count (CBC) data from heparinized blood gas samples].

Complete blood cell count (CBC) data from heparinized blood gas (H-Gas) samples were verified with primary focus on the platelet count (PLT). When a part of H-Gas sample was taken to a separation tube from the blood collection syringe and CBC of the sample in the separation tube was repeatedly measured (Procedure 1), the PLT from 5 samples relative to that obtained immediately after the separation was gradually reduced to 72.6-94.

Evaluation of chest compression effect on airway management with air-Q, aura-i, i-gel, and Fastrack intubating supraglottic devices by novice physicians: a randomized crossover simulation study.

Purpose: In the 2010 American Heart Association guidelines, supraglottic devices (SGDs) such as the laryngeal mask are proposed as alternatives to tracheal intubation for cardiopulmonary resuscitation. Some SGDs can also serve as a means for tracheal intubation after successful ventilation. The purpose of this study was to evaluate the effect of chest compression on airway management with four intubating SGDs, aura-i (aura-i), air-Q (air-Q), i-gel (i-gel), and Fastrack (Fastrack), during cardiopulmonary resuscitation using a manikin.

Effects of a simulation-based sedation training course on non-anesthesiologists' attitudes toward sedation and analgesia.

The purpose of this study was to conduct a survey of emergency or complication during sedation and change of attitude toward sedation by simulation-based sedation training course (SEDTC) hosted by the Japanese Association of Medical Simulation. We used a questionnaire survey to non-anesthesiologists who participated in the 1st to 13th SEDTCs from 2011 to 2012. Survey contents included emergencies or complications during sedation and impressions of the Sedation and Analgesia guidelines for non-anesthesia doctors developed by the American Society of Anesthesiologists.

The ZZ domain of dystrophin in DMD: making sense of missense mutations.

Duchenne muscular dystrophy (DMD) is associated with the loss of dystrophin, which plays an important role in myofiber integrity via interactions with β-dystroglycan and other members of the transmembrane dystrophin-associated protein complex. The ZZ domain, a cysteine-rich zinc-finger domain near the dystrophin C-terminus, is implicated in forming a stable interaction between dystrophin and β-dystroglycan, but the mechanism of pathogenesis of ZZ missense mutations has remained unclear because not all such mutations have been shown to alter β-dystroglycan binding in previous experimental systems. We engineered three ZZ mutations (p.

Utility of the Aintree Intubation Catheter in fiberoptic tracheal intubation through the three types of intubating supraglottic airways: a manikin simulation study.

Purpose: The purpose of this study was to examine the utility of the Aintree Intubation Catheter (AIC) with three types of supraglottic airway devices for tracheal intubation (ISGAs) using a manikin.

Methods: Participants were 21 anesthesiologists with more than 2 years of experience in clinical anesthesia. Three types of ISGAs were passed through the glottis: Fastrack-Single Use (FSU; size 4), air-Q (size 3.

[Application of air-Q laryngeal airway and gum elastic bougie in a case of anticipated difficult. Mask ventilation and tracheal intubation in a man with morbid obesity].

A 46-year-old man was diagnosed with descending colon cancer and was planned to undergo left hemicolectomy under general anesthesia. His body mass index was 42.6 and due to his small mouth and jaw, we anticipated difficult mask ventilation and tracheal intubation.

Utility of the Pentax-AWS Airwayscope and Macintosh laryngoscope for airway management during chest compressions in 27° left-lateral tilt: a manikin simulation study of maternal cardiopulmonary resuscitation.

Purpose: American Heart Association (AHA) 2010 cardiopulmonary resuscitation guidelines recommend high-quality chest compressions (minimum interruption, a pace >100 compressions/min, and a depth more than 5 cm). They propose minor changes for pregnant women: manual left deviation of the uterus or a left-lateral incline of 27°-30° to alleviate pressure on the inferior vena cava. We examined the performance of the Pentax-AWS Airwayscope (AWS) and Macintosh laryngoscope (McL) for airway management during chest compressions on a 27° left-lateral tilt (27 LLT) operating table.

Comparison of Pentax-AWS Airwayscope, Airtraq and Miller laryngoscope for tracheal intubation by novice doctors during infant cardiopulmonary resuscitation simulation: a randomized crossover trial.

Recent guidelines for infant cardiopulmonary resuscitation emphasize that all rescuers should minimize interruption of chest compressions, even for endotracheal intubation. We compared the utility of the Pentax-AWS Airway Scope (AWS) with an infant-sized Intlock (AWS-I), Airtraq laryngoscope (ATQ) and Miller laryngoscope during chest compressions on an infant manikin. Twenty-three novice doctors performed tracheal intubation on an infant manikin using the AWS-I, ATQ and Miller laryngoscope, with or without chest compressions.

[A case of awake intubation using the Pentax-AWS airwayscope in a patient with a difficult airway combined with severe hemorrhagic shock].

We report a case of awake intubation in a patient with a difficult airway combined with severe hemorrhagic shock using the Pentax-AWS Airwayscope (AWS). A 65-year-old man experienced severe hemorrhagic shock due to diaphragmatic hernia after extrapleural pneumonectomy and was scheduled for emergent exploratory thoracotomy under general anesthesia. Blood pressure was maintained with dopamine-noradrenaline support, and rapid transfusion.

LTBP4 genotype predicts age of ambulatory loss in Duchenne muscular dystrophy.

Objective: Duchenne muscular dystrophy (DMD) displays a clinical range that is not fully explained by the primary DMD mutations. Ltbp4, encoding latent transforming growth factor-β binding protein 4, was previously discovered in a genome-wide scan as a modifier of murine muscular dystrophy. We sought to determine whether LTBP4 genotype influenced DMD severity in a large patient cohort.

[Use of the air-Q laryngeal airway and tube exchanger in a case of difficult tracheal extubation after maxillectomy].

A 79-year-old man was diagnosed with maxillary cancer and underwent total maxillectomy under general anesthesia. The oropharyngeal airway was needed for efficient mask ventilation during anesthesia induction. The maxilla was totally resected and reconstructed with skin from a femoral flap.