553 research outputs found
Treatment responses to antiangiogenetic therapy and chemotherapy in nonsecreting paraganglioma (PGL4) of urinary bladder with SDHB mutation: a case report
Paraganglioma (PGL) is a rare neuroendocrine tumor. Currently, the malignancy is defined as the presence of metastatic spread at presentation or during follow-up. Several gene mutations are listed in the pathogenesis of PGL, among which succinate dehydrogenase (SDHX), particularly the SDHB isoform, is the main gene involved in malignancy. A 55-year-old male without evidence of catecholamine secretion had surgery for PGL of the urinary bladder. After 1 year, he showed a relapse of disease and demonstrated malignant PGL without evidence of catecholamine secretion with a germline heterozygous mutation of succinate dehydrogenase B (SDHB). After failure of a second surgery for relapse, he started medical treatment with sunitinib daily but discontinued due to serious side effects. Cyclophosphamide, vincristine, and dacarbazine (CVD) chemotherapeutic regimen stopped the disease progression for 7 months.
Conclusion: Malignant PGL is a very rare tumor, and SDHB mutations must be always considered in molecular diagnosis because they represent a critical event in the progression of the oncological disease. Currently, there are few therapeutic protocols, and it is often difficult, as this case demonstrates, to decide on a treatment option according to a reasoned set of choices.
Abbreviations: CVD = cyclophosphamide, vincristine and dacarbazine, HIF-1a = hypoxia inducible factor 1 alpha, PGL = paraganglioma, SDH = succinate dehydrogenase, VEGF = vasoendothelial growth factor
Coupling of Josephson flux-flow oscillators to an external RC load
We investigate by numerical simulations the behavior of the power dissipated
in a resistive load capacitively coupled to a Josephson flux flow oscillator
and compare the results to those obtained for a d.c. coupled purely resistive
load. Assuming realistic values for the parameters R and C, both in the high-
and in the low-Tc case the power is large enough to allow the operation of such
a device in applications.Comment: uuencoded, gzipped tar archive containing 11 pages of REVTeX text + 4
PostScript figures. To appear in Supercond. Sci. Techno
Predictive factors of malignancy in pediatric patients with thyroid nodules and performance of the Italian classification (SIAPEC 2014) in the outcome of the cytological FNA categories
A data mining approach for classification of orthostatic and essential tremor based on MRI‐derived brain volume and cortical thickness
[Abstract] Objective - Orthostatic tremor (OT) is an extremely rare, misdiagnosed, and underdiagnosed disorder affecting adults in midlife. There is debate as to whether it is a different condition or a variant of essential tremor (ET), or even, if both conditions coexist. Our objective was to use data mining classification methods, using magnetic resonance imaging (MRI)‐derived brain volume and cortical thickness data, to identify morphometric measures that help to discriminate OT patients from those with ET. Methods - MRI‐derived brain volume and cortical thickness were obtained from 14 OT patients and 15 age‐, sex‐, and education‐matched ET patients. Feature selection and machine learning methods were subsequently applied. Results - Four MRI features alone distinguished the two, OT from ET, with 100% diagnostic accuracy. More specifically, left thalamus proper volume (normalized by the total intracranial volume), right superior parietal volume, right superior parietal thickness, and right inferior parietal roughness (i.e., the standard deviation of cortical thickness) were shown to play a key role in OT and ET characterization. Finally, the left caudal anterior cingulate thickness and the left caudal middle frontal roughness allowed us to separate with 100% diagnostic accuracy subgroups of OT patients (primary and those with mild parkinsonian signs). Conclusions - A data mining approach applied to MRI‐derived brain volume and cortical thickness data may differentiate between these two types of tremor with an accuracy of 100%. Our results suggest that OT and ET are distinct conditions.National Institutes of Health (United States); #R01, NS39422National Institutes of Health (United States), #R01, NS094607National Institutes of Health (United States); #R01, NS085136National Institutes of Health (United States); #R01, NS073872National Institutes of Health (United States); #R01, NS085136National Institutes of Health (United States); #R01, NS088257European Commission; ICT‐2011‐287739Ministerio de Economía y Competitividad; RTC‐2015‐3967‐1Agencia Española de Investigación de la Salud; FIS PI12/01602Agencia Española de Investigación de la Salud; FIS PI16/00451Madrid Robotics Digital Innovation Hub; S2018/NMT‐433
Diffusion tensor imaging in orthostatic tremor: a tract‐based spatial statistics study
[Abstract]
Objective
The pathogenesis of orthostatic tremor (OT) is unknown. We investigated OT‐related white matter changes and their correlations with scores from a neuropsychological testing battery.
Methods
Diffusion tensor imaging measures were compared between 14 OT patients and 14 age‐ and education‐matched healthy controls, using whole‐brain tract‐based spatial statistics analysis. Correlations between altered diffusion metrics and cognitive performance in OT group were assessed.
Results
In all cognitive domains (attention, executive function, visuospatial ability, verbal memory, visual memory, and language), OT patients’ cognitive performance was significantly worse than that of healthy controls. OT patients demonstrated altered diffusivity metrics not only in the posterior lobe of the cerebellum (left cerebellar lobule VI) and in its efferent cerebellar fibers (left superior cerebellar peduncle), but also in medial lemniscus bilaterally (pontine tegmentum), anterior limb of the internal capsule bilaterally, right posterior limb of the internal capsule, left anterior corona radiata, right insula, and the splenium of corpus callosum. No relationship was found between diffusion measures and disease duration in OT patients. Diffusion white matter changes, mainly those located in right anterior limb of the internal capsule, were correlated with poor performance on tests of executive function, visuospatial ability, verbal memory, and visual memory in OT patients.
Interpretation
White matter changes were preferentially located in the cerebellum, its efferent pathways, as well as in the pontine tegmentum and key components of the frontal–thalamic–cerebellar circuit. Further work needs to be done to understand the evolution of these white matter changes and their functional consequences.National Institutes of Health; R01 NS39422National Institutes of Health; R01 NS094607National Institutes of Health; R01 NS085136National Institutes of Health; R01 NS073872National Institutes of Health; R01 NS088257European Commission. Grant Number: ICT‐2011‐287739Ministerio de Ecnomía y Competitividad; RTC‐2015‐3967‐1Spanish Health Research Agency; FIS PI12/01602Spanish Health Research Agency; FIS PI16/00451Ministerio de Ecnomía y Competitividad; DPI‐2015‐68664‐C4‐1‐
GH replacement therapy and second neoplasms in adult survivors of childhood cancer: a retrospective study from a single institution.
Tourette syndrome and neuropsychological performance
Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/65659/1/j.1600-0447.1991.tb03131.x.pd
Serum thyrotropin concentration in children with isolated thyroid nodules.
OBJECTIVE: To investigate the correlation between serum thyroid-stimulating hormone (TSH) concentration and nodule nature in pediatric patients with thyroid nodules, with the aim of identifying a marker able to differentiate benign and malignant nodules.
STUDY DESIGN: This was a retrospective analysis of serum TSH concentrations in a multicentric case series of 125 pediatric patients with benign and malignant thyroid nodules.
RESULTS: Of the 125 patients, 99 had benign thyroid nodules and 26 had differentiated thyroid cancer (24 papillary and 2 follicular). Final diagnosis was based on surgery in 57 cases and on a benign cytology plus clinical follow-up in 68 cases. Serum TSH concentration was significantly higher in patients with thyroid cancer compared with those with benign nodules (3.23 ± 1.59 mU/L vs 1.64 ± 0.99 mU/L; P < .001). Binary logistic regression analysis revealed that serum TSH was the sole predictor of malignancy (P < .001). Dividing the patient cohort into 5 groups based on serum TSH quintiles (TSH cutoffs 0.40, 1.00, 1.50, 1.80, and 2.80 mU/L), we observed that cancer prevalence increased in parallel with serum TSH (P < .001), with respective rates of 0%, 4%, 16%, 32%, and 52% in the 5 quintile groups.
CONCLUSION: Because cases with malignant nodules are most likely seen in the upper normal serum TSH range (ie, >2.8 mU/L), serum TSH concentration can serve as a predictor of thyroid cancer in pediatric patients with thyroid nodules and can inform the decision of when to submit patients to further investigation by cytology
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