BioMed research international
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Copy number variants (CNVs) as detected by chromosomal microarray analysis (CMA) significantly contribute to the etiology of neurodevelopmental disorders, such as developmental delay (DD), intellectual disability (ID), and autism spectrum disorder (ASD). This study summarizes the results of 3.5 years of CMA testing by a CLIA-certified clinical testing laboratory 5487 patients with neurodevelopmental conditions were clinically evaluated for rare copy number variants using a 2.8-million probe custom CMA optimized for the detection of CNVs associated with neurodevelopmental disorders. We report an overall detection rate of 29.4% in our neurodevelopmental cohort, which rises to nearly 33% when cases with DD/ID and/or MCA only are considered. ⋯ Additionally, we find that detection rate and pathogenic yield of CMA vary significantly depending on the primary indications for testing, the age of the individuals tested, and the specialty of the ordering doctor. We also report a significant difference between the detection rate on the ultrahigh resolution optimized array in comparison to the array from which it originated. This increase in detection can significantly contribute to the efficient and effective medical management of neurodevelopmental conditions in the clinic.
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Randomized Controlled Trial Clinical Trial
Comparing McGRATH® MAC, C-MAC®, and Macintosh Laryngoscopes Operated by Medical Students: A Randomized, Crossover, Manikin Study.
We hypothesized that the McGRATH MAC would decrease the time of intubation compared to C-MAC for novices. Thirty-nine medical students who had used the Macintosh blade to intubate a manikin fewer than 3 times were recruited. The participants performed sequential intubations on the manikin in two simulated settings that included a normal airway and a difficult airway (tongue edema). ⋯ The McGRATH MAC and C-MAC significantly increased the success rate of intubation, improved the Cormack-Lehane grade, and decreased the difficulty score compared to the Macintosh blade in both airway settings. The majority of participants selected the McGRATH MAC as the most useful device. The McGRATH MAC and C-MAC may offer similar benefits for intubation compared to the Macintosh blade in normal and difficult airway situations.
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Multicenter Study Clinical Trial
The Effect of the Duration of Basic Life Support Training on the Learners' Cardiopulmonary and Automated External Defibrillator Skills.
Background. Basic life support (BLS) training with hands-on practice can improve performance during simulated cardiac arrest, although the optimal duration for BLS training is unknown. This study aimed to assess the effectiveness of various BLS training durations for acquiring cardiopulmonary resuscitation (CPR) and automated external defibrillator (AED) skills. ⋯ Conclusions. Brief BLS training provided a moderate level of skill for performing CPR and using AEDs. However, high-quality skills for CPR required longer and hands-on training, particularly hands-on training with AEDs.
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Acute kidney injury (AKI) is a common complication of hospitalization that is characterized by a sudden loss of renal excretory function and associated with the subsequent development of chronic kidney disease, poor prognosis, and increased mortality. Although the pathophysiology of renal functional impairment in the setting of AKI remains poorly understood, previous studies have identified changes in renal hemodynamics, perfusion, and oxygenation as key factors in the development and progression of AKI. The early assessment of these changes remains a challenge. ⋯ Thus, the purpose of this review is to illustrate the principle, application, and role of the techniques of functional renal MR imaging, including blood oxygen level-dependent imaging, arterial spin labeling, and diffusion-weighted MR imaging, in the management of AKI. The use of gadolinium in MR imaging may exacerbate renal impairment and cause nephrogenic systemic fibrosis. Therefore, dynamic contrast-enhanced MR imaging will not be discussed in this paper.
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Image-guided sensory block and radiofrequency ablation of the nerves innervating the sacro-iliac joint require readily identifiable bony landmarks for accurate needle/electrode placement. Understanding the relative locations of the transverse sacral tubercles along the lateral sacral crest is important for ultrasound guidance, as they demarcate the position of the posterior sacral network (S1-S3 ± L5/S4) innervating the posterior sacro-iliac joint. No studies were found that investigated the spatial relationships of these bony landmarks. ⋯ The mean intertubercular and interforaminal distances decreased from S1 to S4, whereas the distance from the lateral margin of the posterior sacral foramina to the transverse sacral tubercles increased from S1 to S3. The mean intertubercular distance from S1 to S3 was significantly (p < 0.05) larger in males. The interrelationships of the sacral bony landmarks should be taken into consideration when estimating the site and length of an image-guided strip lesion targeting the posterior sacral network.