Citations

Purpose To describe a model‐based reconstruction strategy for single‐shot echo planar imaging (EPI) that intrinsically accounts for k‐space nonuniformity, Nyquist ghosting, and geometric distortions during rather than before or after image reconstruction. Methods Ramp sampling and inhomogeneous B0 field‐induced distortion cause the EPI samples to lie on a non‐Cartesian grid, thus requiring the nonuniform fast Fourier transform. Additionally, a 2D Nyquist ghost phase correction without the need for extra navigator acquisition is included in the proposed reconstruction. Coil compression is also incorporated to reduce the computational load. The proposed method is applied to phantom and human brain MRI data. Results The results demonstrate that Nyquist ghosting and geometric distortions are reduced by the proposed reconstruction. The proposed 2D phase correction is superior to a conventional 1D correction. The reductions of both artifacts lead to improved temporal signal‐to‐noise ratio (tSNR). The virtual coil results suggest that the processing time can be reduced by up to 75%, with a mean tSNR loss of only 3.2% when using 8‐virtual instead of 32‐physical coils for twofold undersampled data. Conclusion The proposed reconstruction improves the quality (ghosting, geometry, and tSNR) of EPI without requiring calibration data for Nyquist ghost correction. Magn Reson Med 78:2250–2264, 2017. © 2017 International Society for Magnetic Resonance in Medicine.

Abstract Introduction Genetic loci for Alzheimer's disease (AD) have been identified in whites of European ancestry, but the genetic architecture of AD among other populations is less understood. Methods We conducted a transethnic genome‐wide association study (GWAS) for late‐onset AD in Stage 1 sample including whites of European Ancestry, African‐Americans, Japanese, and Israeli‐Arabs assembled by the Alzheimer's Disease Genetics Consortium. Suggestive results from Stage 1 from novel loci were followed up using summarized results in the International Genomics Alzheimer's Project GWAS dataset. Results Genome‐wide significant (GWS) associations in single‐nucleotide polymorphism (SNP)–based tests ( P < 5 × 10 −8 ) were identified for SNPs in PFDN1/HBEGF , USP6NL/ECHDC3 , and BZRAP1‐AS1 and for the interaction of the (apolipoprotein E) APOE ε4 allele with NFIC SNP. We also obtained GWS evidence ( P < 2.7 × 10 −6 ) for gene‐based association in the total sample with a novel locus, TPBG ( P = 1.8 × 10 −6 ). Discussion Our findings highlight the value of transethnic studies for identifying novel AD susceptibility loci.

Abstract SUMMARY The clinical, histologic, and immunofluorescent findings in 86 cases of pyoderma gangrenosum seen at the Mayo Clinic between 1970 and 1983 were reviewed. Males and females were affected in equal numbers. The most frequent site of lesions was the leg. Sixty-seven patients (78 per cent) had associated systemic disease, with arthritis and inflammatory bowel disease being commonest. Cutaneous histopathologic changes varied with the site of biopsy. Lymphocytic vasculitis was predominant in the zone of erythema peripheral to the area of ulceration, while neutrophilic infiltrate and abscess formation were more prominent centrally. In most cases studied, direct immunofluorescence showed immunoglobulins and complement deposited in and around superficial and deep dermal vessels.

Abstract The syndrome of primary biliary cirrhosis and limited scleroderma (the CREST syndrome) is described in 22 patients. The syndrome is expanded to include a serologic marker - the anticentromere antibody - and keratoconjunctivitis sicca. The acronym ‘PACK’ (primary biliary cirrhosis, anticentromere antibody, CREST syndrome, and keratoconjunctivitis sicca) with ‘syndrome’ is suggested to facilitate recall of the various components of this entity.

The majority of cerebellopontine angle tumors are acoustic neurinomas; however, 10% to 15% are meningiomas. Meningiomas are benign lesions that must be removed but may require surgical approaches different from those used for acoustic neurinomas. To determine if meningiomas could be distinguished from acoustic neurinomas clinically, findings in 20 patients who underwent removal of a meningioma were compared to those in 131 patients who had an acoustic neurinoma removed during the same period. We found that in patients with meningiomas the tumors frequently are large at presentation, the otologic symptoms and audiometric findings are less dramatic, and roentgenograms of the skull and tomograms of the petrous apex rarely show erosion of the internal auditory canal. Computerized tomography is the most useful method for differentiating a meningioma from a neurinoma: when a meningioma is present the characteristic finding is a broad‐based mass aligned with the petrous ridge, not centered over the internal auditory canal.

Peak oxygen uptake (peak V ˙ O 2 ) measured by clinical exercise testing is the benchmark for aerobic fitness. Aerobic fitness, estimated from maximal treadmill exercise, is a predictor of mortality in adults. Peak V ˙ O 2 was shown to predict longevity in patients aged 7–35 years with cystic fibrosis over 25 years ago. A surge of exercise studies in young adults with congenital heart disease over the past decade has revealed significant prognostic information. Three years ago, the first clinical trial in children with pulmonary arterial hypertension used peak V ˙ O 2 as an endpoint that likewise delivered clinically relevant data. Cardiopulmonary exercise testing provides clinicians with biomarkers and clinical outcomes, and researchers with novel insights into fundamental biological mechanisms reflecting an integrated physiological response hidden at rest. Momentum from these pioneering observations in multiple disease states should impel clinicians to employ similar methods in other patient populations; e.g., sickle cell disease. Advances in pediatric exercise science will elucidate new pathways that may identify novel biomarkers. Our initial aim of this essay is to highlight the clinical relevance of exercise testing to determine peak V ˙ O 2 , and thereby convince clinicians of its merit, stimulating future clinical investigators to broaden the application of exercise testing in pediatrics.