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David Smith, High Cheek, Brenda Denson, Christopher M Pruitt
OBJECTIVE: Intranasal (IN) midazolam is a commonly prescribed medication for pediatric sedation and anxiolysis. One of its most frequently-encountered adverse effects is discomfort with administration. While it has been proposed that premedicating with lidocaine reduces this undesirable consequence, this combination has not been thoroughly researched. The objective of our study was to assess whether topical lidocaine lessens the discomfort associated with IN midazolam administration. METHODS: This was a double-blinded, randomized, placebo-controlled trial performed in an urban, academic pediatric emergency department...
October 14, 2016: Academic Emergency Medicine: Official Journal of the Society for Academic Emergency Medicine
Frieda Silva, Ralph J Martin, Jannette Figueroa, Fernando Rincón, Diego Román
OBJECTIVE: Evaluate the variability of stimulated serum thyroglobulin (Tg) levels in post-thyroidectomy patients with well-differentiated thyroid cancer (WDTC) and determine the frequency of undetectable Tg in patients with evidence of functional thyroid tissue after a 131-I whole-body scan (WBS). METHODS: A retrospective record review of patients with WDTC referred to our clinic from 1990 to 2010. Demographic data, histology, staging, imaging studies, stimulated Tg values, and the presence if applicable of Tg antibodies (TgAb) were documented...
September 2016: Puerto Rico Health Sciences Journal
Elham Abbas, Devin M Cox, Teri Smith, Merlin G Butler
We report a 14-year-old adolescent girl with selective mutism (SM) and a 7q11.23 microduplication detected by chromosomal microarray (CMA) analysis and reviewed the literature from 18 published clinical reports. Our patient had specific phobias, SM, extreme anxiety, obesity, cutis marmorata, and a round appearing face with a short neck and over folded ears. We reviewed the published clinical, cognitive, behavioral, and cytogenetic findings grouped by speech and language delay, growth and development, craniofacial, clinical, and behavior and cognitive features due to the 7q11...
September 2016: Journal of Pediatric Genetics
Bernt Popp, Regina Trollmann, Christian Büttner, Almuth Caliebe, Christian T Thiel, Ulrike Hüffmeier, André Reis, Christiane Zweier
Williams-Beuren syndrome (WBS) is a relatively common, clinically recognizable microdeletion syndrome. In most cases the typical heterozygous deletion of 1.5 Mb on chromosome 7q11.23 spanning about 26 genes can be identified. Also some larger or smaller atypical deletions have been reported and associated with additional or atypical phenotypic aspects. We report on an individual with typical WBS due to the common deletion and with refractory infantile spasms. Using trio-exome sequencing, we identified a de novo truncating variant c...
October 2016: European Journal of Medical Genetics
J Isherwood, D Bilku, M S Metcalfe, A R Dennison, G Garcea
INTRODUCTION: Despite increasingly mixed communities in large cities, there remains a paucity of absolute and comparative data concerning the treatment, access and survival of British Asians with pancreatic cancer. METHODS: A prospective database of 1038 patients with a diagnosis of pancreatic cancer from 2003 to 2012 was analysed. Asian/Asian British was defined as patients identifying themselves as originating from India, Bangladesh or Pakistan. RESULTS: No significant difference was observed in gender split for both Asian/Asian British and White British (AAB and WB)...
September 6, 2016: World Journal of Surgery
Sampat Sindhar, Michael Lugo, Mark D Levin, Joshua R Danback, Benjamin D Brink, Eric Yu, Dennis J Dietzen, Amy L Clark, Carolyn A Purgert, Jessica L Waxler, Robert W Elder, Barbara R Pober, Beth A Kozel
OBJECTIVE: To evaluate the timing, trajectory, and implications of hypercalcemia in Williams-Beuren syndrome (WBS) through a multicenter retrospective study. STUDY DESIGN: Data on plasma calcium levels from 232 subjects with WBS aged 0-67.1 years were compared with that in controls and also with available normative data. Association testing was used to identify relevant comorbidities. RESULTS: On average, individuals with WBS had higher plasma calcium levels than controls, but 86...
August 26, 2016: Journal of Pediatrics
Min Jhi Kim, Jandee Lee, Seul Gi Lee, Jung Bum Choi, Tae Hyung Kim, Eun Jeong Ban, Cho Rok Lee, Sang-Wook Kang, Jong Ju Jeong, Kee-Hyun Nam, Young Suk Jo, Woong Youn Chung
BACKGROUND: Robotic modified radical neck dissection (MRND) using a gasless transaxillary approach has been reported to be a safe and meticulous technique in patients with papillary thyroid carcinoma (PTC) and lateral neck node metastasis (N1b). Few studies, however, have attempted to assess the long-term oncologic outcomes of robotic MRND in these patients. This study aimed to compare perioperative and 5-year oncologic outcomes of robotic MRND with conventional open procedures in patients with N1b PTC...
August 29, 2016: Surgical Endoscopy
Eric M Wise, William R McIvor, Michael P Mangione
STUDY OBJECTIVE: The goals of this study were to assess students' usage data of Web-based simulation (WBS), to determine if it can fill gaps in clinical experience-based medical education, and to determine students' perceived value of this kind of simulation during a clinical clerkship. DESIGN: Observational/prospective cohort. SETTING: Medical school affiliated with a large academic hospital. SUBJECTS: A total od 138 medical students...
September 2016: Journal of Clinical Anesthesia
I R Hussein, A Magbooli, E Huwait, A Chaudhary, R Bader, M Gari, F Ashgan, M Alquaiti, A Abuzenadah, M AlQahtani
BACKGROUND: Williams-Beuren Syndrome (WBS) is a rare neurodevelopmental disorder characterized by dysmorphic features, cardiovascular defects, cognitive deficits and developmental delay. WBS is caused by a segmental aneuploidy of chromosome 7 due to heterozygous deletion of contiguous genes at the long arm of chromosome 7q11.23. We aimed to apply array-CGH technique for the detection of copy number variants in suspected WBS patients and to determine the size of the deleted segment at chromosome 7q11...
2016: Molecular Cytogenetics
A Kukulska, J Krajewska, Z Kołosza, E Paliczka-Cies Lik, Z Puch, E Gubała, A Król, M Kalemba, A Kropin Ska, B Jarząb
INTRODUCTION: Available methods, including serum thyroglobulin (Tg) measurement and whole-body scan (WBS) performed after radioiodine administration, allow for a precise diagnostics in differentiated thyroid cancer (DTC). However, some asymptomatic patients demonstrate negative WBS despite a high Tg serum concentration. In these subjects, fluorodeoxyglucose-positron emission tomography (FDG-PET) should be considered. The primary aim of our study was to evaluate a diagnostic value of FDG-PET in asymptomatic hyperthyroglobulinemia...
November 2016: European Journal of Endocrinology
Gisela Pereira, Raúl Maneyro
This study describes the reproductive microhabitat of Melanophryniscus montevidensis and its use in two water bodies (WBs) in Barra de la Laguna de Rocha, Uruguay. Monthly field trips were performed between March 2012 and February 2013. Variables related to the WBs and vegetation, as well as parameters linked to the usage the amphibians make of the site (e.g: distance to the border of the pond, water depth and the vegetation use) were recorded. The behavior shown by the individuals during the breeding activity was recorded...
August 2016: Zoological Science
Cristina Borralleras, Susana Mato, Thierry Amédée, Carlos Matute, Christophe Mulle, Luis A Pérez-Jurado, Victoria Campuzano
Mice heterozygous for a complete deletion (CD) equivalent to the most common deletion found in individuals with Williams-Beuren syndrome (WBS) recapitulate relevant features of the neurocognitive phenotype, such as hypersociability, along with some neuroanatomical alterations in specific brain areas. However, the pathophysiological mechanisms underlying these phenotypes still remain largely unknown. We have studied the synaptic function and cognition in CD mice using hippocampal slices and a behavioral test sensitive to hippocampal function...
2016: Molecular Brain
Rafał Czepczyński, Maria Gryczyńska, Marek Ruchała
BACKGROUND: In majority of cases of differentiated thyroid carcinoma (DTC), the ablative radioiodine treatment shows high efficacy. In a small number of patients, mechanism of selective iodine uptake by the DTC cells is insufficient and alternative methods of diagnosis and treatment are needed. As demonstrated in vitro, DTC cells show expression of somatostatin recep-tors. Radiolabeled somatostatin analogs are widely used in the diagnosis of neuroendocrine tumors. The aim of the study was to evaluate the utility of peptide receptor scintigraphy with the use of 99mTc-EDDA/HYNIC-TOC in the diagnosis of DTC in patients with elevated thyroglobulin concentrations (Tg), negative WBS and no effect of the consecutive radioiodine therapies...
2016: Nuclear Medicine Review. Central & Eastern Europe
Jiao Li, Juan Du, Huayu Fu, Jin Wang, Zhou Yu
OBJECTIVE: To apply single nucleotide polymorphism array (SNP-array) for the diagnosis of Williams-Beuren syndrome (WBS) in a patient. METHODS: Chromosome G-banding and SNP-array were used to analyze a girl featuring mental retardation. RESULTS: The karyotypes of the child and her parents were all normal, but SNP-array showed a 1.9 Mb deletion at 7q11.23 in the patient. The same deletion was not found in her parents. CONCLUSION: The mental retardation and special facies of the girl were probably due to the 7q11...
August 2016: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
Frederik Faden, Lennart Eschen-Lippold, Nico Dissmeyer
Western blot (WB) analysis is the most widely used method to monitor expression of proteins of interest in protein extracts of high complexity derived from diverse experimental setups. WB allows the rapid and specific detection of a target protein, such as non-tagged endogenous proteins as well as protein-epitope tag fusions depending on the availability of specific antibodies. To generate quantitative data from independent samples within one experiment and to allow accurate inter-experimental quantification, a reliable and reproducible method to standardize and normalize WB data is indispensable...
2016: Methods in Molecular Biology
Radovan Gospavic, Peter Knoll, Siroos Mirzaei, Viktor Popov
OBJECTIVES: The objectives of this work was to assess the benefits of the application of Physiologically Based Pharmacokinetic (PBPK) models in patients with different neuroendocrine tumours (NET) who were treated with Lu-177 DOTATATE. The model utilises clinical data on biodistribution of radiolabeled peptides (RLPs) obtained by whole body scintigraphy (WBS) of the patients. METHODS: The blood flow restricted (perfusion rate limited) type of the PBPK model for biodistribution of radiolabeled peptides (RLPs) in individual human organs is based on the multi-compartment approach, which takes into account the main physiological processes in the organism: absorption, distribution, metabolism and excretion (ADME)...
2016: Asia Ocean J Nucl Med Biol
Stefano Stagi, Cristina Manoni, Perla Scalini, Francesco Chiarelli, Alberto Verrotti, Cecilia Cecchi, Elisabetta Lapi, Sabrina Giglio, Silvia Romano, Maurizio de Martino
OBJECTIVE: To evaluate bone mineral status and metabolism in a cohort of patients with Williams-Beuren syndrome (WBS). PATIENTS: Thirty-one children (15 females, 16 males; mean age 9.6±2.74 years) and 10 young adults (6 females, 4 males; mean age 21.4±5.11 years) with WBS were cross-sectionally evaluated and compared with two age-, sex-, and body-size-matched paediatric (155 subjects, 75 females and 80 males; mean age 9.7±2.93 years) and adult (50 subjects, 30 females and 20 males; mean age 22...
July 11, 2016: Hormones: International Journal of Endocrinology and Metabolism
Adam Stangierski, Jaroslaw Kaznowski, Kosma Wolinski, Elzbieta Jodlowska, Piotr Michaliszyn, Katarzyna Kubiak, Rafal Czepczynski, Marek Ruchala
INTRODUCTION: PET/computed tomography (CT) using fluorine-18 fluorodeoxyglucose (F-FDG) has been used in the diagnosis of recurrence and metastases of differentiated thyroid cancer (DTC) in cases of negative whole-body scan (WBS) despite elevated concentrations of stimulated thyroglobulin (Tg). AIM: To assess the utility of PET/CT in the detection of recurrence among patients with DTC with increased Tg levels and negative results of WBS. MATERIALS AND METHODS: PET/CT results were retrospectively analyzed in patients with DTC with increased Tg and negative results of WBS as well as negative cervical ultrasonography and chest radiography...
September 2016: Nuclear Medicine Communications
Emaad Abdel-Kahaar, Mariana Kabakchiev, Bertram Hartmann, Eberhard Wieland, Maria Shipkova
OBJECTIVES: The S6 ribosomal protein (S6RP) is phosphorylated by the mammalian target of rapamycin (mTOR). The objective of this study was to assess the analytical suitability of a commercial kit-based phosphoflow cytometry protocol using whole blood (WBS) to measure the level of phosphorylated S6RP (p-S6RP) in T-cell subsets to study the pharmacodynamic effects of mTOR inhibitors (mTORi). DESIGN AND METHODS: A kit was used for fixation and permeabilization of mitogen-stimulated cells, and p-S6RP was assessed separately in CD3+CD4+ and CD3+CD8+ cells by employing an anti-phospho-Ser235/236 antibody...
June 29, 2016: Clinical Biochemistry
Jie Mao, Duowei Wang, Zhuo Wang, Wei Tian, Xianjing Li, Jingjing Duan, Yun Wang, Hongbao Yang, Linjun You, Yan Cheng, Jinsong Bian, Zhen Chen, Yong Yang
Combretastatin A-1 phosphate (CA1P) is a microtubule polymerization inhibitor that binds to the colchicine-binding site of tubulin. We demonstrated that CA1P has outstanding anti-cancer activity against hepatocellular carcinoma (HCC) in vitro and in vivo. As determined by fluorescence staining and western blots (WBs), CA1P induced reactive oxygen species (ROS) accumulation and apoptosis in HepG2 cells with a down-regulation of Mcl-1. Additional studies indicated that CA1P induced microtubule depolymerization-mediated AKT inactivation, which resulted in GSK-3β activation, Wnt/β-Catenin pathway inhibition, and Mcl-1 down-regulation...
September 28, 2016: Cancer Letters
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