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81.
NA Hanchard DR Murdock PL Magoulas M Bainbridge D Muzny YQ Wu M Wang AL McGuire JR Lupski RA Gibbs CW Brown 《Clinical genetics》2013,83(5):457-461
The advent of whole‐exome next‐generation sequencing (WES) has been pivotal for the molecular characterization of Mendelian disease; however, the clinical applicability of WES has remained relatively unexplored. We describe our exploration of WES as a diagnostic tool in a 3½‐year old female patient with a 2‐year history of episodic muscle weakness and paroxysmal dystonia who presented following a previous extensive but unrevealing diagnostic work‐up. WES was performed on the proband and her two parents. Parental exome data was used to filter potential de novo genomic events in the proband and suspected variants were confirmed using di‐deoxy sequencing. WES revealed a de novo non‐synonymous mutation in exon 21 of the calcium channel gene CACNA1S that has been previously reported in a single patient as a rare cause of atypical hypokalemic periodic paralysis. This was unexpected, as the proband's original differential diagnosis had included hypokalemic periodic paralysis, but clinical and laboratory features were equivocal, and standard clinical molecular testing for hypokalemic periodic paralysis and related disorders was negative. This report highlights the potential diagnostic utility of WES in clinical practice, with implications for the approach to similar diagnostic dilemmas in the future. 相似文献
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Mitzi M. Gonzales Takashi Tarumi Sonya Kaur Nantinee Nualnim Bennett A. Fallow Martha Pyron Hirofumi Tanaka Andreana P. Haley 《Brain topography》2013,26(1):126-134
Engagement in regular aerobic exercise is associated with cognitive benefits, but information on the mechanisms governing these changes in humans is limited. The goal of the current study was to compare neurometabolite concentrations relating to cellular metabolism, structure, and viability in endurance-trained and sedentary middle-aged adults. Twenty-eight endurance-trained and 27 sedentary adults, aged 40–65 years, underwent general health assessment, cardiorespiratory fitness measurement, neuropsychological testing, and proton magnetic resonance spectroscopy (1H MRS). 1H MRS was used to examine N-acetyl-aspartate (NAA), creatine (Cr), myo-inositol (mI), choline (Cho), and glutamate (Glu) concentrations in frontal and occipitoparietal grey matter. Group differences in concentrations of NAA, Cho, mI, and Glu, calculated as ratios over Cr, were explored using ANOVA. There were no significant differences in global cognitive function, memory, and executive function performance between the groups. In comparison to sedentary adults, the endurance-trained group displayed significantly higher NAA/Cr in the frontal grey matter (F(1, 53) = 5.367, p = 0.024) and higher Cho/Cr in the occipitoparietal grey matter (F(1, 53) = 5.138, p = 0.028). Within our middle-aged sample, endurance-trained adults demonstrated higher levels of NAA/Cr in the frontal grey matter and higher Cho/Cr in the occipitoparietal grey matter. Higher levels of NAA may indicate greater neuronal integrity and higher cerebral metabolic efficiency in association with cardiorespiratory fitness, whereas increased Cho may represent increased phospholipid levels secondary to neural plasticity. 相似文献
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Kathylin M. Hester Omid B. Rahimi Constance L. Fry Haley L. Nation 《Journal of anatomy》2021,239(4):782-787
The purpose of this study is to investigate the applicability of the current surgical guideline stating that the main facial foramina that transmit cutaneous nerves to the face (supraorbital notch/foramen, infraorbital foramen, and mental foramen) are equidistant from the midline in European and Hispanic populations. Previous studies suggest this surgical guideline is not applicable for all ethnicities; however, to our knowledge, no data have been published regarding the accuracy of this guideline pertaining to the Hispanic population. An experimental study was performed on 67 cadavers donated to the Human Anatomy Program at UT Health San Antonio. The supraorbital, infraorbital, and mental foramina were dissected and midline structures including the crista galli, internasal suture, anterior nasal spine, and mandibular symphysis were identified. The distance from each foramen to midline was recorded using a digital caliper. For all cadavers/ethnicities studied, the supraorbital, infraorbital, and mental foramina were 25.32 mm, 29.57 mm, and 25.55 mm to the midline, respectively. Thus, the infraorbital foramen is located significantly more lateral compared to the supraorbital (p < 0.0001) and mental foramina (p < 0.0001). After dividing the sample based on ethnicity, this relationship was also true for the European sample and tended to be true for the Hispanic sample. Significant anatomical variations exist in the current surgical guideline stating that the supraorbital foramen, infraorbital foramen, and mental foramen are equidistant from the midline. Clinicians may need to adjust their methodology during surgical procedures of the face in order to optimize patient care. 相似文献
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Rubins Daniel J Meng Xiangjun McQuade Paul Klimas Michael Getty Krista Lin Shu-An Connolly Brett M. O’Malley Stacey S. Haley Hyking Purcell Mona Gantert Liza Holahan Marie Lindgren Joel Eklund Pär Ekblad Caroline Frejd Fredrik Y. Hostetler Eric D. González Trotter Dinko E. Evelhoch Jeffrey L. 《Molecular imaging and biology》2021,23(2):241-249
Molecular Imaging and Biology - In vivo imaging of programmed death ligand 1 (PD-L1) during immunotherapy could potentially monitor changing PD-L1 expression and PD-L1 expression heterogeneity... 相似文献
87.
Interactions of a Photo-Affinity ATP Analog with Cation-Stimulated Adenosine Triphosphatases of Human Red Cell Membranes 总被引:10,自引:9,他引:10
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Boyd E. Haley Joseph F. Hoffman 《Proceedings of the National Academy of Sciences of the United States of America》1974,71(9):3367-3371
To identify and isolate ATP binding and hydrolyzing sites of human red cell membranes we have synthesized a photo-activated ATP analog, 8-azido adenosine triphosphate (N3ATP). In the absence of ultraviolet light it is a substrate for both the Mg-ATPase and the ouabain-sensitive, Na,K-ATPase. Hydrolysis of N3ATP is prevented by increasing concentrations of ATP. Photolysis of N3ATP with red cell membranes results in covalent incorporation and irreversible inhibition of both ATPase activities. Also, only three protein components of the red cell membranes are labeled. This labeling is completely abolished by appropriate concentrations of ATP. 相似文献
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