Measuring Gastric pH in Tube-fed Children With Neurologic Impairments and Gastroesophageal Disease.

OBJECTIVES: The aim of the study was to determine the extent of agreement between pH paper and handheld pH meter with a laboratory pH meter for gastric pH measurement in children with neurologic impairments and gastrostomy tubes who have gastroesophageal reflux disease (GERD). METHODS: In this prospective observational study, gastric contents were aspirated from gastric or nasogastric tubes and the pH measured using 3 techniques: pH paper, handheld pH meter, and laboratory pH meter (the gold standard). Agreement between techniques was assessed with intraclass correlation coefficient (ICC), Bland-Altman analysis, and kappa statistic. RESULTS: Among 43 patients contributing 67 gastric samples, the ICC was 0.75 (95% confidence interval [CI]: 0.69-0.97) between the handheld and laboratory meters, 0.69 (95% CI: 0.63--0.94) between the pH paper and laboratory meter and 0.69 (95% CI: 0.63-0.94) between the handheld meter and paper. The Bland-Altman analysis between the handheld and lab meters showed a mean difference of -0.03 pH units (limits of agreement: -0.52 to 0.47 pH units) and 0.17 pH units (limits of agreement: -0.99 to 1.33 pH units) between the paper and lab meter. The kappa coefficients for a pH ≥4 were 1.0 (95% CI: 1.0--1.0) between the handheld and lab meters and 0.9 (95% CI: 0.77--1.0) between the paper and lab meter. CONCLUSIONS: The findings suggest that both point-of-care tests, the pH meter and pH paper, correlate well with the gold standard for testing pH with a laboratory pH meter, indicating usefulness in point-of-care testing for monitoring gastric pH in tube-fed children with neurologic impairments and GERD.

Robotic-assisted coronary artery bypass surgery: an 18-year single-centre experience.

BACKGROUND: Minimally invasive robot-assisted direct coronary artery bypass (RADCAB) has emerged as a feasible minimally invasive surgical technique for revascularization that might offer several potential advantages over conventional approaches. We present our 18-year experience in RADCAB. METHODS: Between February 1998 and February 2016, 605 patients underwent RADCAB. Patients underwent post-procedural selective graft patency assessment using cardiac catheterization. RESULTS: The mortality rate was 0.3%. The rate of conversion to sternotomy for any cause was reduced from 16.0% of the first 200 cases to 6.9% of the last 405 patients. The patency rate of the LITA-to-LAD anastomosis was 97.4%. Surgical re-exploration for bleeding occurred in 1.8% of patients, and the transfusion rate was 9.2%. Average ICU stay was 1.2 ± 1.4 days, and average hospital stay was 4.8 ± 2.9 days. CONCLUSIONS: Robot-assisted coronary artery bypass grafting is safe, feasible and it seems to represent an effective alternative to traditional coronary artery bypass grafting in selected patients.

Embolized Stems Recover Overnight in Zea mays: The Role of Soil Water, Root Pressure, and Nighttime Transpiration.

It is not currently well-understood how much xylem conductance is lost in maize plants during the day, if conductance is recovered during the night, or what soil water conditions are required for recovery to take place. To answer these questions we designed a greenhouse experiment whereby two genetically dissimilar maize genotypes were subjected to a level of water stress commonly experienced in the field (Ψxylem ∼-2 MPa). We then measured the loss of stem-specific conductivity associated with this level of stress, as well as the overnight recovery following three re-watering treatments: Ψsoil ∼ 0 MPa, Ψsoil ∼-0.40 MPa, and Ψsoil ∼-1.70 MPa. Mid-day leaf water potentials of -1.98 MPa resulted in stem-specific conductivity (KS) values that were 31.5% of maximal (i.e., 68% loss). Returning soils to field capacity (Ψsoil ∼ 0 MPa) overnight allowed for the significant recovery of KS (76% of maximal), whereas partial watering (Ψsoil ∼-0.40 MPa) resulted KS values that were 51.7% of maximal values, whereas not watering resulted in no recovery (35.4% of maximal; Ψsoil ∼-1.7 MPa). Recovery of KS was facilitated by the generation of root pressure and low rates of nighttime transpiration.

Mechanisms for Complex Chromosomal Insertions.

Chromosomal insertions are genomic rearrangements with a chromosome segment inserted into a non-homologous chromosome or a non-adjacent locus on the same chromosome or the other homologue, constituting ~2% of nonrecurrent copy-number gains. Little is known about the molecular mechanisms of their formation. We identified 16 individuals with complex insertions among 56,000 individuals tested at Baylor Genetics using clinical array comparative genomic hybridization (aCGH) and fluorescence in situ hybridization (FISH). Custom high-density aCGH was performed on 10 individuals with available DNA, and breakpoint junctions were fine-mapped at nucleotide resolution by long-range PCR and DNA sequencing in 6 individuals to glean insights into potential mechanisms of formation. We observed microhomologies and templated insertions at the breakpoint junctions, resembling the breakpoint junction signatures found in complex genomic rearrangements generated by replication-based mechanism(s) with iterative template switches. In addition, we analyzed 5 families with apparently balanced insertion in one parent detected by FISH analysis and found that 3 parents had additional small copy-number variants (CNVs) at one or both sides of the inserting fragments as well as at the inserted sites. We propose that replicative repair can result in interchromosomal complex insertions generated through chromothripsis-like chromoanasynthesis involving two or three chromosomes, and cause a significant fraction of apparently balanced insertions harboring small flanking CNVs.

Electrocardiographic Pad for Efficient Cardiac MR Gating.

PURPOSE: To assess feasibility and reliability of electrocardiographic (ECG)-gated cardiac magnetic resonance (MR) imaging with a simplified reusable electrode design that does not touch the skin. MATERIALS AND METHODS: In this institutional review board-approved, HIPAA-compliant study, a silicon positioner held four ECG leads and detected ECG signals without requiring shaving, adhesive, or removal of the gown. The patient lies down on the device and the patient's weight ensures good lead contact against patient's gown; electrode gel that soaks through the gown provides electrical contact with the skin. It was tested at 1.5 T on 12 volunteers and 52 patients by using double inversion recovery, steady-state, fast gradient-echo time course perfusion, and delayed inversion recovery sequences. Paired Student t test was used to assess the significance of differences in durations to apply and remove ECG pad and standard leads. Image quality was assessed and rated on a four-point scale by two readers. The ECG signal quality obtained from pad and leads was rated on a five-point scale. Ventricular septal sharpness and signal-to-noise ratio were measured on images generated by ECG gating from pads and standard leads. RESULTS: Application and removal duration was 444 seconds with standard leads compared with 296 seconds with the ECG pad, and mean difference in setup time was 148 seconds (P = .005). Ventricular septal sharpness (1/slope) was 165 for ECG pad and 152 for standard leads (P = .3). Septal signal-to-noise ratio on images generated by cardiac gating with ECG pad was 38 ± 12 (standard deviation) compared with 39 ± 14 for standard leads (P = .7). The qualitative image quality score for ECG pad (3.9 ± 0.19) was comparable to ECG leads (3.8 ± 0.45; P = .47). The mean ECG signal qualitative scores were also comparable (pad vs leads, 4.9 ± 0.43 vs 4.9 ± 0.14, respectively; P = .9). Volunteers preferred the ECG pad and reported that it was comfortable and convenient. ECG pad was successful in 50 of 52 (96%) patients. Two patients, including one with large pleural effusions and another with ventricular tachycardia, were not successfully gated. CONCLUSION: This simplified approach to ECG gating is faster to set up and more convenient and comfortable for patients.

Patch based reconstruction of undersampled data (PROUD) for high signal-to-noise ratio and high frame rate contrast enhanced liver imaging.

PURPOSE: High spatial-temporal four-dimensional imaging with large volume coverage is necessary to accurately capture and characterize liver lesions. Traditionally, parallel imaging and adapted sampling are used toward this goal, but they typically result in a loss of signal to noise. Furthermore, residual under-sampling artifacts can be temporally varying and complicate the quantitative analysis of contrast enhancement curves needed for pharmacokinetic modeling. We propose to overcome these problems using a novel patch-based regularization approach called Patch-based Reconstruction Of Under-sampled Data (PROUD). THEORY AND METHODS: PROUD produces high frame rate image reconstructions by exploiting the strong similarities in spatial patches between successive time frames to overcome the severe k-space under-sampling. To validate PROUD, a numerical liver perfusion phantom was developed to characterize contrast-to-noise ratio (CNR) performance compared with a previously proposed method, TRACER. A second numerical phantom was constructed to evaluate the temporal footprint and lag of PROUD and TRACER reconstructions. Finally, PROUD and TRACER were evaluated in a cohort of five liver donors. RESULTS: In the CNR phantom, PROUD, compared with TRACER, improved peak CNR by 3.66 times while maintaining or improving temporal fidelity. In vivo, PROUD demonstrated an average increase in CNR of 60% compared with TRACER. CONCLUSION: The results presented in this work demonstrate the feasibility of using a combination of patch based image constraints with temporal regularization to provide high SNR, high temporal frame rate and spatial resolution four dimensional imaging.

Conversion of urodynamic pressures measured simultaneously by air-charged and water-filled catheter systems.

AIMS: The objective of this study was to compare the simultaneous responses of water-filled (WFC) and air-charged (ACC) catheters during simulated urodynamic pressures and develop an algorithm to convert peak pressures measured using an ACC to those measured by a WFC. METHODS: Examples of cough leak point pressure and valsalva leak point pressure data (n = 4) were obtained from the literature, digitized, and modified in amplitude and duration to create a set of simulated data that ranged in amplitude from 15 to 220 cm H2 O (n = 25) and duration from 0.1 to 3.0 sec (n = 25) for each original signal. Simulated pressure signals were recorded simultaneously by WFCs, ACCs, and a reference transducer in a specially designed pressure chamber. Peak pressure and time to peak pressure were calculated for each simulated pressure signal and were used to develop an algorithm to convert peak pressures recorded with ACCs to corresponding peak pressures recorded with WFCs. The algorithm was validated with additional simulated urodynamic pressure signals and additional catheters that had not been utilized to develop the algorithm. RESULTS: ACCs significantly underestimated peak pressures of more rapidly changing pressures, as in coughs, compared to those measured by WFCs. The algorithm corrected 90% of peak pressures measured by ACCs to within 5% of those measured by WFCs when simultaneously exposed to the same pressure signals. CONCLUSIONS: The developed algorithm can be used to convert rapidly changing urodynamic pressures, such as cough leak point pressure, obtained using ACC systems to corresponding values expected from WFC systems.

How accurate is MOLLI T1 mapping in vivo? Validation by spin echo methods.

T1 mapping is a promising quantitative tool for assessing diffuse cardiomyopathies. The purpose of this study is to quantify in vivo accuracy of the Modified Look-Locker Inversion Recovery (MOLLI) cardiac T1 mapping sequence against the spin echo gold standard, which has not been done previously. T1 accuracy of MOLLI was determined by comparing with the gold standard inversion recovery spin echo sequence in the calf muscle, and with a rapid inversion recovery fast spin echo sequence in the heart. T1 values were obtained with both conventional MOLLI fitting and MOLLI fitting with inversion efficiency correction. In the calf (n = 6), conventional MOLLI fitting produced inconsistent T1 values with error ranging from 8.0% at 90° to 17.3% at 30°. Modified MOLLI fitting with inversion efficiency correction improved error to under 7.4% at all flip angles. In the heart (n = 5), modified MOLLI fitting with inversion correction reduced T1 error to 5.5% from 14.0% by conventional MOLLI fitting. This study shows that conventional MOLLI fitting can lead to significant in vivo T1 errors when not accounting for the lower adiabatic inversion efficiency often experienced in vivo.

Direct coronary motion extraction from a 2D fat image navigator for prospectively gated coronary MR angiography.

PURPOSE: Direct 2D tracking of cardiac motion may provide superior respiratory navigator gating for coronary magnetic resonance angiography compared to conventional liver-diaphragm navigators. However, additional 2D processing for motion extraction is unsuitable for real-time prospective gating. In this work, a 2D fat-selective image navigator, which delineates the epicardial fat surrounding coronary arteries, is developed to directly monitor epicardial fat motion at every heartbeat in real-time for prospective gating. METHODS: The proposed navigator is incorporated into a real-time interactive software that allows rapid setup and efficient motion extraction, and runs on standard clinical hardware without any additional dedicated components for processing. The proposed 2D cardiac fat image navigator was compared with the conventional 1D diaphragm navigator in free-breathing b-SSFP coronary MRAs in 12 healthy volunteers at 1.5T. RESULTS: Real-time motion extraction from 2D cardiac fat navigator images was feasible within 20 ms, enabling successful prospectively gated coronary magnetic resonance angiographies in all subjects. Compared to 1D diaphragmatic navigator, 2D fat image navigator reduced scan time by 38% (P < 0.0005), and significantly improved vessel sharpness, myocardial suppression, and image quality (P < 0.05). CONCLUSION: This demonstrates the feasibility of a 3D SSFP coronary magnetic resonance angiography sequence using a 2D epicardial fat image as a navigator for real-time prospective motion tracking.

Routine cine-CMR for prosthesis-associated mitral regurgitation: a multicenter comparison to echocardiography.

BACKGROUND AND AIM OF THE STUDY: Mitral regurgitation (MR) is an important complication after prosthetic mitral valve (PMV) implantation. Transthoracic echocardiography is widely used to screen for native MR, but can be limited with PMV. Cine-cardiac magnetic resonance (CMR) holds the potential for the non-invasive assessment of regurgitant severity based on MR-induced inter-voxel dephasing. The study aim was to evaluate routine cine-CMR for the visual assessment of PMV-associated MR. METHODS: Routine cine-CMR was performed at nine sites. A uniform protocol was used to grade MR based on jet size in relation to the left atrium (mild < 1/3, moderate 1/3-2/3, severe > 2/3). MR was graded in each long-axis orientation, with overall severity based on cumulative grade. Cine-CMR was also scored for MR density and pulmonary vein systolic flow reversal (PVSFR). Visual interpretation was compared to quantitative analysis in a single-center (derivation) cohort, and to transesophageal echocardiography (TEE) in a multicenter (validation) cohort. RESULTS: The population comprised 85 PMV patients (59% mechanical valves, 41% bioprostheses). Among the derivation cohort (n = 25), quantitative indices paralleled visual scores, with stepwise increases in jet size and density in relation to visually graded MR severity (both p = 0.001). Patients with severe MR had an almost three-fold increase in quantitative jet area (p = 0.002), and a two-fold increase in density (p = 0.04) than did other patients. Among the multicenter cohort, cine-CMR and TEE (Δ =. 2 ± 3 days) demonstrated moderate agreement (κ = 0.44); 64% of discordances differed by ≤ 1 grade (Δ = 1.2 ± 0.5). Using a TEE reference, cine-CMR yielded excellent diagnostic performance for severe MR (sensitivity, negative predictive value = 100%). Patients with visually graded severe MR also had more frequent PVSFR (p < 0.001), denser jets (p < 0.001), and larger left atria (p = 0.01) on cine-CMR. CONCLUSION: Cine-CMR is useful for the assessment of PMV-associated MR, which manifests concordant quantitative and qualitative changes in size and density of inter-voxel dephasing. Visual MR assessment based on jet size provides an accurate non-invasive means of screening for TEE-evidenced severe MR.

Geometry-independent inclusion of basal myocardium yields improved cardiac magnetic resonance agreement with echocardiography and necropsy quantified left-ventricular mass.

OBJECTIVES: Left-ventricular mass (LVM) is widely used to guide clinical decision-making. Cardiac magnetic resonance (CMR) quantifies LVM by planimetry of contiguous short-axis images, an approach dependent on reader-selection of images to be contoured. Established methods have applied different binary cut-offs using circumferential extent of left-ventricular myocardium to define the basal left ventricle (LV), omitting images containing lesser fractions of left-ventricular myocardium. This study tested impact of basal slice variability on LVM quantification. METHODS: CMR was performed in patients and laboratory animals. LVM was quantified with full inclusion of left-ventricular myocardium, and by established methods that use different cut-offs to define the left-ventricular basal-most slice: 50% circumferential myocardium at end diastole alone (ED50), 50% circumferential myocardium throughout both end diastole and end systole (EDS50). RESULTS: One hundred and fifty patients and 10 lab animals were studied. Among patients, fully inclusive LVM (172.6±42.3g) was higher vs. ED50 (167.2±41.8g) and EDS50 (150.6±41.1g; both P<0.001). Methodological differences yielded discrepancies regarding proportion of patients meeting established criteria for left-ventricular hypertrophy and chamber dilation (P<0.05). Fully inclusive LVM yielded smaller differences with echocardiography (Δ=11.0±28.8g) than did ED50 (Δ=16.4±29.1g) and EDS50 (Δ=33.2±28.7g; both P<0.001). Among lab animals, ex-vivo left-ventricular weight (69.8±13.2g) was similar to LVM calculated using fully inclusive (70.1±13.5g, P=0.67) and ED50 (69.4±13.9g; P=0.70) methods, whereas EDS50 differed significantly (67.9±14.9g; P=0.04). CONCLUSION: Established CMR methods that discordantly define the basal-most LV produce significant differences in calculated LVM. Fully inclusive quantification, rather than binary cut-offs that omit basal left-ventricular myocardium, yields smallest CMR discrepancy with echocardiography-measured LVM and non-significant differences with necropsy-measured left-ventricular weight.

Flip angle profile correction for T1 and T2 quantification with look-locker inversion recovery 2D steady-state free precession imaging.

Fast methods using balanced steady-state free precession have been developed to reduce the scan time of T1 and T2 mapping. However, flip angle (FA) profiles created by the short radiofrequency pulses used in steady-state free precession deviate substantially from the ideal rectangular profile, causing T1 and T2 mapping errors. The purpose of this study was to develop a FA profile correction for T1 and T2 mapping with Look-Locker 2D inversion recovery steady-state free precession and to validate this method using 2D spin echo as a reference standard. Phantom studies showed consistent improvement in T1 and T2 accuracy using profile correction at multiple FAs. Over six human calves, profile correction provided muscle T1 estimates with mean error ranging from excellent (-0.6%) at repetition time/FA = 18 ms/60° to acceptable (6.8%) at repetition time/FA = 4.9 ms/30°, while muscle T2 estimates were less accurate with mean errors of 31.2% and 47.9%, respectively.

T2 prep three-dimensional spiral imaging with efficient whole brain coverage for myelin water quantification at 1.5 tesla.

Quantitative assessment of myelination is important for characterizing tissue damage and evaluating response to therapy in white matter diseases such as multiple sclerosis. Conventional multicomponent T(2) relaxometry based on the two-dimensional (2D) multiecho spin echo sequence is a promising method to measure myelin water fraction, but its clinical utility is impeded by the prohibitively long data acquisition and limited brain coverage. The objective of this study was to develop a signal-to-noise ratio efficient 3D T(2) prep spiral gradient echo (3D SPIRAL) sequence for full brain T(2) relaxometry and to validate this sequence using 3D multiecho spin echo as reference standard in healthy brains at 1.5 T. 3D SPIRAL was found to provide similar myelin water fraction in six selected white and gray matter areas using region-of-interest signal averaging analysis (N = 7, P > 0.05). While 3D multiecho spin echo only provided partial brain coverage, 3D SPIRAL enabled whole brain coverage with a fivefold higher acquisition speed per imaging slice and similar signal-to-noise ratio efficiency. Both 3D sequences provided superior signal-to-noise ratio efficiency when compared to the conventional 2D multiecho spin echo approach.

PTCH1 duplication in a family with microcephaly and mild developmental delay.

With the exception of the X chromosome, genomic deletions appear to be more prevalent than duplications. Because of a lack of accurate diagnostic methods, submicroscopic duplications have been under-ascertained for a long period. The development of array CGH has enabled the detection of chromosomal microduplications with nearly the same sensitivity as deletions, leading to the discovery of previously unrecognized syndromes. Using a clinical targeted oligonucleotide array (CMA-V6.3 OLIGO), we identified an approximately 360-kb duplication in 9q22.32 in a 21-month-old boy with developmental delay, failure to thrive, and microcephaly. The same duplication was identified in the patient's mother who is also microcephalic and mildly delayed. We have sequenced the chromosomal breakpoints and determined the duplication as tandem in orientation and 363 599 bp in size. The duplicated segment harbors the entire PTCH1 gene. Deletions or loss-of-function mutations of PTCH1 result in basal cell nevus syndrome (Gorlin syndrome), whereas gain-of-function mutations were proposed to lead to holoprosencephaly 7. We propose that patients with microcephaly or holoprosencephaly of unknown origin should also be screened for PTCH1 duplication.

Genotype, phenotype, and karyotype correlation in the XO mouse model of Turner Syndrome.

The murine model for Turner Syndrome is the XO mouse. Unlike their human counterparts, XO mice are typically fertile, and their lack of a second sex chromosome can be transmitted from one generation to the next as an X-linked dominant trait with male lethality. The introduction of an X-linked coat-color marker (tabby) has greatly facilitated the maintenance of this useful mouse strain. XO mice can be produced in large numbers, generation after generation, and rapidly identified on the basis of their sex and coat color. Although this breeding scheme appears to be effective at the phenotype level, its utility has never been conclusively proved at the molecular or cytogenetic levels. Here, we clone and sequence the tabby deletion break point and present a multiplex polymerase chain reaction-based assay for the tabby mutation. By combining the results of this assay with whole-chromosome painting data, we demonstrate that genotype, phenotype, and karyotype all show perfect correlation in the publicly available XO breeding stock. This work lays the foundation for the use of this strain to study Turner Syndrome in particular and the X chromosome in general.

Development and validation of a CGH microarray for clinical cytogenetic diagnosis.

PURPOSE: We developed a microarray for clinical diagnosis of chromosomal disorders using large insert genomic DNA clones as targets for comparative genomic hybridization (CGH). METHODS: The array contains 362 FISH-verified clones that span genomic regions implicated in over 40 known human genomic disorders and representative subtelomeric clones for each of the 41 clinically relevant human chromosome telomeres. Three or four clones from almost all deletion or duplication genomic regions and three or more clones for each subtelomeric region were included. We tested chromosome microarray analysis (CMA) in a masked fashion by examining genomic DNA from 25 patients who were previously ascertained in a genetic clinic and studied by conventional cytogenetics. A novel software package implemented in the R statistical programming language was developed for normalization, visualization, and inference. RESULTS: The CMA results were entirely consistent with previous cytogenetic and FISH findings. For clone by clone analysis, the sensitivity was estimated to be 96.7% and the specificity was 99.1%. Major advantages of this selected human genome array include the following: interrogation of clinically relevant genomic regions, the ability to test for a wide range of duplication and deletion syndromes in a single analysis, the ability to detect duplications that would likely be undetected by metaphase FISH, and ease of confirmation of suspected genomic changes by conventional FISH testing currently available in the cytogenetics laboratory. CONCLUSION: The array is an attractive alternative to telomere FISH and locus-specific FISH, but it does not include uniform coverage across the arms of each chromosome and is not intended to substitute for a standard karyotype. Limitations of CMA include the inability to detect both balanced chromosome changes and low levels of mosaicism.

Partial peroneus longus tendon rupture in professional basketball players: a report of 2 cases.

Partial tears of the peroneal tendons are rare. Partial longitudinal tears of the peroneus longus tendon are even more rare. We report on 2 professional basketball players who had partial peroneus longus tendon tears beneath the cuboid. A literature review and discussion of treatment is included.

The microscopic pathoanatomy of acute anterior shoulder dislocations in a simian model.

PURPOSE: The purpose of this study was to determine the extent of capsular injury that occurs at a microscopic level in association with acute anterior shoulder dislocations. TYPE OF STUDY: The study was an anatomic, cadaveric study using a simian model. The microscopic slide review was blinded regarding the presence or absence of dislocation. METHODS: Three cadaveric monkey shoulder specimens were dissected free of muscle tissue but left undislocated as controls. Eleven cadaveric monkey shoulder specimens were dislocated with an abduction and external rotation force and subsequently evaluated grossly and histologically for the presence and direction of gross and microscopic injury. RESULTS: All dislocated specimens had an associated Bankart lesion. In addition, all dislocated specimens had histologic evidence of capsular microtearing. The tears were in no specific location or direction and were at times located perpendicular to, obliquely to, or between the longitudinal orientation of the fibers. CONCLUSIONS: Based on this model, a Bankart lesion is a common and usual occurrence with acute anterior shoulder dislocations. In these specimens, the Bankart lesion was never an isolated pathology. Microscopic capsular injury was always associated. Additionally, the direction of the capsular injury is highly variable.