Citations

Abstract Summary: Mate pair library sequencing is an effective and economical method for detecting genomic structural variants and chromosomal abnormalities. Unfortunately, the mapping and alignment of mate-pair read pairs to a reference genome is a challenging and time-consuming process for most next-generation sequencing alignment programs. Large insert sizes, introduction of library preparation protocol artifacts (biotin junction reads, paired-end read contamination, chimeras, etc.) and presence of structural variant breakpoints within reads increase mapping and alignment complexity. We describe an algorithm that is up to 20 times faster and 25% more accurate than popular next-generation sequencing alignment programs when processing mate pair sequencing. Availability: http://bioinformaticstools.mayo.edu/research/bima/ Contact: vasm@mayo.edu or vasmatzis.george@mayo.edu Supplementary Information: Supplementary data are available at Bioinformatics online.

AbstractPurposeTo identify patient concomitant injury and surgical characteristics associated with 6‐month excellent functional and isokinetic testing results following anterior cruciate ligament (ACL) reconstruction.MethodsPatients that underwent ACL reconstruction by a single surgeon had isokinetic and functional testing performed with excellent 6‐month outcome defined as greater than 85 % in isokinetic strength and 90 % in functional tests (excellent 6‐month group vs. delayed 6‐month group). Patient concomitant injury and surgical factors were then analysed in univariate and multivariate statistical models to assess which characteristics predicted the excellent 6‐month group.ResultsThe 224 patients included 93 males and 131 females, with median age of 22 (range 12–59) years, body mass index (BMI) of 25.4 (range 17–44), and median Tegner activity score of 6 (range 2–10). Fifty‐two patients (23 %) were included in the excellent 6‐month group, while 172 patients (77 %) were in the delayed 6‐month group. In univariate analysis, favourable factors with the excellent 6‐month outcome group were younger age (24 vs. 27; p = 0.01), lower BMI (24.5 vs. 26.2; p = 0.03), and minimal articular cartilage damage (71 vs. 56 %; p = 0.048). In multivariate analysis, a negative effect was observed for patients older than 30 years that had ACL reconstruction with autograft (p = 0.0004).ConclusionFactors significantly associated with excellent 6‐month functional and isokinetic test results following ACL reconstruction included younger age, lower BMI, and minimal cartilage degeneration. The use of allograft was associated with improved functional and strength testing after ACL reconstruction in patients over 30 years of age.Level of evidencePrognostic/therapeutic study, Level III.

ObjectivesWe set to measure the interatrial pressure gradient during simulated obstructive sleep apnea (OSA).BackgroundOSA occurs when a sleeping patient attempts to inhale against an obstructed airway. How this event affects the interatrial pressure gradient has not been defined. We hypothesized that simulated OSA in a conscious subject (Mueller maneuver [MM], inspiration against obstruction) would promote increased right‐to‐left pressure gradient, and then the substrate for right‐to‐left atrial shunting.MethodsSelected patients underwent simultaneous measurement of airway and atrial pressures (both left and right atrium [LA, RA]) using high‐fidelity micromanometry at rest, during MM, and during VM, during right heart catheterization.ResultsTen patients (age 55 ± 11 years, two women) were successfully studied. During the onset of MM, RA pressure transiently but consistently exceeded LA pressure in response to the steep decline in intrathoracic pressure (maximum RA‐LA pressure gradient increased from 0.1 ± 1.4 mm Hg at baseline to 7.0 ± 4.3 mm Hg during MM, P < 0.001). The maximum right‐to‐left atrial pressure gradient during Mueller maneuver was higher than that achieved during the Valsalva maneuver release (P < 0.007).ConclusionsThe onset of MM increased right‐to‐left pressure gradient across the atrial septum, likely as a result of greater blood return to the RA from extrathoracic veins. The RA‐LA pressure gradient achieved during MM was greater than that observed during VM. These findings delineate the hemodynamic substrate for right to left shunting during OSA. © 2014 Wiley Periodicals, Inc.

ABSTRACTA 75-year-old man was diagnosed with probableCampylobacter jejuniprosthetic knee infection after a diarrheal illness. Joint aspirate and operative cultures were negative, but PCR of prosthesis sonicate fluid was positive, as was stool culture. Nineteen additional cases ofCampylobacterprosthetic joint infection reported in the literature are reviewed.

A 17-year-old male was transferred to the pediatric intensive care unit for evaluation of acute liver failure. He was recently released from an alcohol treatment center with acute onset of chest pain. Cardiac workup was negative but he was found to have abnormal coagulation studies and elevated liver transaminases. Other evaluations included a normal toxicology screen and negative acetaminophen level. Autoimmune and infectious workups were normal providing no identifiable cause of his acute liver failure. He initially denied any ingestions or illicit drug use but on further query he admitted taking niacin in an attempt to obscure the results of an upcoming drug test. Niacin has been touted on the Internet as an aid to help pass urine drug tests though there is no evidence to support this practice. Niacin toxicity has been associated with serious multisystem organ failure and fulminant hepatic failure requiring liver transplantation. Pediatric providers should be aware of the risks associated with niacin toxicity and other experimental medical therapies that may be described on the Internet or other nonreputable sources.