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排序方式: 共有1531条查询结果,搜索用时 15 毫秒
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Emmi Helle Aldo Córdova-Palomera Tiina Ojala Priyanka Saha Praneetha Potiny Stefan Gustafsson Erik Ingelsson Michael Bamshad Deborah Nickerson Jessica X. Chong University of Washington Center for Mendelian Genomics Euan Ashley James R. Priest 《Genetic epidemiology》2019,43(2):215-226
Loss of function variants in NOTCH1 cause left ventricular outflow tract obstructive defects (LVOTO). However, the risk conferred by rare and noncoding variants in NOTCH1 for LVOTO remains largely uncharacterized. In a cohort of 49 families affected by hypoplastic left heart syndrome, a severe form of LVOTO, we discovered predicted loss of function NOTCH1 variants in 6% of individuals. Rare or low-frequency missense variants were found in 16% of families. To make a quantitative estimate of the genetic risk posed by variants in NOTCH1 for LVOTO, we studied associations of 400 coding and noncoding variants in NOTCH1 in 1,085 cases and 332,788 controls from the UK Biobank. Two rare intronic variants in strong linkage disequilibrium displayed significant association with risk for LVOTO amongst European-ancestry individuals. This result was replicated in an independent analysis of 210 cases and 68,762 controls of non-European and mixed ancestry. In conclusion, carrying rare predicted loss of function variants in NOTCH1 confer significant risk for LVOTO. In addition, the two intronic variants seem to be associated with an increased risk for these defects. Our approach demonstrates the utility of population-based data sets in quantifying the specific risk of individual variants for disease-related phenotypes. 相似文献
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Extensive and Progressing Congenital Dermal Melanocytosis Leading to Diagnosis of GM1 Gangliosidosis 下载免费PDF全文
Priyanka Vedak B.A. Ryan Sells M.D. Aieska De Souza M.D. Ph.D. Mai P. Hoang M.D. Daniela Kroshinsky M.D. M.P.H. 《Pediatric dermatology》2015,32(6):e294-e295
Congenital dermal melanocytosis (CDM) is a birthmark composed of macular blue‐grey hyperpigmentation commonly observed in the lumbosacral region of infants. Generally resolving by childhood, it is traditionally considered a benign condition, but it may be a sign of underlying lysosomal storage disease. We report a case of biopsy‐confirmed CDM in a 2‐month‐old girl of Brazilian descent later diagnosed with infantile GM1 gangliosidosis. 相似文献
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Camryn Harvie Steven J. Weissbart Priyanka Kadam‐Halani Hengyi Rao Lily A. Arya 《Clinical anatomy (New York, N.Y.)》2019,32(1):13-19
Several studies have used a variety of neuroimaging techniques to measure brain activity during the voiding phase of micturition. However, there is a lack of consensus on which regions of the brain are activated during voiding. The aim of this meta‐analysis is to identify the brain regions that are consistently activated during voiding in healthy adults across different studies. We searched the literature for neuroimaging studies that reported brain co‐ordinates that were activated during voiding. We excluded studies that reported co‐ordinates only for bladder filling, during pelvic floor contraction only, and studies that focused on abnormal bladder states such as the neurogenic bladder. We used the activation‐likelihood estimation (ALE) approach to create a statistical map of the brain and identify the brain co‐ordinates that were activated across different studies. We identified nine studies that reported brain activation during the task of voiding in 91 healthy subjects. Together, these studies reported 117 foci for ALE analysis. Our ALE map yielded six clusters of activation in the pons, cerebellum, insula, anterior cingulate cortex (ACC), thalamus, and the inferior frontal gyrus. Regions of the brain involved in executive control (frontal cortex), interoception (ACC, insula), motor control (cerebellum, thalamus), and brainstem (pons) are involved in micturition. This analysis provides insight into the supraspinal control of voiding in healthy adults and provides a framework to understand dysfunctional voiding. Clin. Anat., 2018. © 2018 Wiley Periodicals, Inc. 相似文献
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Savinay Kapur Manisha Jana Lalit Gupta Ashu S. Bhalla Priyanka Naranje Arun K. Gupta 《Current problems in diagnostic radiology》2021,50(1):41-47
ObjectiveTo compare image quality of free-breathing T2-weighted MultiVane-XD (MVXD) sequence (non-Cartesian k-space filling using radial rectangular blades) with conventional MR sequences (short tau inversion recovery [STIR],balanced true field echo [BTFE], T1 in phase fast field echo [T1 FFE], and T1-fat saturated postgadolinium [T1PG]) in MR imaging of chest.Materials and MethodsTwenty-one patients (10 men and 11 women) underwent chest MRI including T2W MVXD, STIR, BTFE (18/21), T1 FFE, T1PG (10/21) sequences at 1.5 T. Two reviewers (A.S.B and M.J. with 20 and 10 years of experience in pulmonary imaging, respectively) evaluated each sequence with respect to overall image quality, image sharpness, definition of mediastinal vessels including the aorta, pulmonary arteries, superior vena cava, intrapulmonary vessels; trachea, main bronchi, intrapulmonary airways; lung-mediastinal interface, pulmonary lesion detection, and artefacts in the upper, middle, and lower third of chest using 5-point scales. No sedation was given. Pairwise comparisons between T2W MVXD and the 4 conventional sequences were made using unpaired student's t test.ResultsMean age of patients was 30.67 years (range: 6-60 years). T2 MVXD showed significantly better overall image quality and sharpness than STIR, T1 FFE, and T1PG (P < 0.01) while it was comparable to BTFE. Mediastinal vessels were significantly better visualized on T2 MVXD as compared to STIR and T1 (P < 0.003). However, BTFE and T1PG were superior to T2 MVXD for visualization of great vessels, SVC, and intrapulmonary vessels (P < 0.01). Visualization of trachea, major bronchi, intrapulmonary airways as well as intrapulmonary lesion detection was significantly better on T2 MVXD images in comparison to any of the other 4 sequences (P < 0.03). Intrapulmonary artifacts were significantly lesser in BTFE images as compared to T2 MVXD (P < 0.01). No significant difference was found between the severity of intrapulmonary artifacts in other MR sequences as compared to T2 MVXD.ConclusionsBy virtue of its better overall image quality, sharpness, superior visualization of mediastinal airways, and lesion detection, T2 MultiVane-XD promises to be a robust addition in the armamentarium of thoracic radiologists. 相似文献