Plos One
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Case Reports
Genome sequencing of idiopathic pulmonary fibrosis in conjunction with a medical school human anatomy course.
Even in cases where there is no obvious family history of disease, genome sequencing may contribute to clinical diagnosis and management. Clinical application of the genome has not yet become routine, however, in part because physicians are still learning how best to utilize such information. As an educational research exercise performed in conjunction with our medical school human anatomy course, we explored the potential utility of determining the whole genome sequence of a patient who had died following a clinical diagnosis of idiopathic pulmonary fibrosis (IPF). ⋯ We did not identify additional predicted functional variants in a region of linkage disequilibrium (LD) adjacent to MUC5B, nor did we discover other likely risk-contributing variants elsewhere in the genome. Whole genome sequencing thus corroborates the association of rs35705950 with MUC5B dysregulation and interstitial lung disease. This novel exercise additionally served a unique mission in bridging clinical and basic science education.
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Decline in oxygen uptake efficiency (OUE), especially during exercise, is found in patients with chronic heart failure. In this study we aimed to test the validity and usefulness of OUE in evaluating gas exchange abnormality of patients with idiopathic pulmonary arterial hypertension (IPAH). ⋯ In patients with IPAH, OUES and OUEP are both significantly lower than the healthy subjects. OUEP is a better physiological parameter than OUES in evaluating the gas exchange abnormality of patients with IPAH.
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There is a real need for quantifiable neuro-imaging biomarkers in concussion. Here we outline a brain BOLD-MRI CO2 stress test to assess the condition. ⋯ Quantifiable alterations in regional cerebrovascular responsiveness are present in concussion patients during provocative CO2 challenge and BOLD MRI and not in healthy controls. Future longitudinal studies must aim to clarify the relationship between CO2 responsiveness and individual patient symptoms and outcomes.
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Accurate and robust brain extraction is a critical step in most neuroimaging analysis pipelines. In particular, for the large-scale multi-site neuroimaging studies involving a significant number of subjects with diverse age and diagnostic groups, accurate and robust extraction of the brain automatically and consistently is highly desirable. In this paper, we introduce population-specific probability maps to guide the brain extraction of diverse subject groups, including both healthy and diseased adult human populations, both developing and aging human populations, as well as non-human primates. ⋯ The results demonstrate that our method consistently yields the best overall results across almost the entire human life span, with only a single set of parameters. To demonstrate its capability to work on non-human primates, the proposed method is further evaluated using a rhesus macaque dataset with 20 subjects. Quantitative comparisons with popularly used state-of-the-art methods, including BET, Two-pass BET, BET-B, BSE, HWA, ROBEX and AFNI, demonstrate that the proposed method performs favorably with superior performance on all testing datasets, indicating its robustness and effectiveness.
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The anterior approach for multilevel CSM has been developed and obtained favorable outcomes. However, the operation difficulty, invasiveness and operative risks increase when multi-level involved. This study was to assess surgical parameters, complications, clinical and radiological outcomes in the treatment of 2-, 3- and 4-level CSM. ⋯ As the number of involved levels increased, surgical results become worse in terms of operative time, blood loss, NDI score, cervical ROM and complication rates postoperatively. An appropriate surgical procedure for multilevel CSM should be chosen according to comprehensive clinical evaluation before operation, thus reducing fusion and decompression levels if possible.