Read by QxMD icon Read


D Kabzińska, H Mierzewska, J Senderek, A Kochański
The Warburg micro syndrome (WARBM) is a genetically heterogeneous syndrome linked to at least 4 loci. At the clinical level, WARBM is characterized by microcephaly, microphthalmia, microcornea, congenital cataracts, corpus callosum hypoplasia, severe mental retardation, and hypogonadism. In some families additional clinical features have been reported. The presence of uncommon clinical features (peripheral neuropathy, cardiomyopathy) may result in misdirected molecular diagnostics. Using the next generation sequencing approach (NGS), we were able to diagnose WARBM1 syndrome by detection of a new mutation within the RAB3GAP1 gene...
2016: Folia Neuropathologica
Motoko Tanaka, Kazuki Yoshida, Shingo Fukuma, Kazuko Ito, Kazutaka Matsushita, Masafumi Fukagawa, Shunichi Fukuhara, Tadao Akizawa
OBJECTIVES: Anemia is an important prognostic factor in hemodialysis patients. It has been reported that parathyroidectomy ameliorates anemia and reduces the requirement of postoperative erythropoiesis-stimulating agents. The objective of this study was to assess the effect of cinacalcet, which is considered as a pharmacological parathyroidectomy, on anemia in hemodialysis patients. METHODS: We used data from a prospective cohort of Japanese hemodialysis patients with secondary hyperparathyroidism; the criteria were: intact parathyroid hormone concentrations ≥ 180 pg/mL or use of an intravenous or oral vitamin D receptor activator...
2016: PloS One
Alessia Pedoto, Dawn P Desiderio, David Amar, Robert J Downey
BACKGROUND: Spray cryotherapy (SCT) of airway lesions is used to effectively palliate respiratory symptoms related to airway obstruction, but significant intraoperative hemodynamic complications have been noted. We reviewed the experience at a single institution using SCT for the treatment of obstructive airway tumors. METHODS: A retrospective review of a single institution experience with intraoperative and postoperative hemodynamic complications associated with SCT was performed...
November 2016: Anesthesia and Analgesia
Bobby A Tajudeen, Zachary D Taylor, James Garritano, Harrison Cheng, Aidan Pearigen, Adria J Sherman, Fernando Palma-Diaz, Pratik Mishra, Siddharth Bhargava, Julianna Pesce, Irene Kim, Christine Sebastian, Ali Razfar, Asael Papour, Oscar Stafsudd, Warren Grundfest, Maie St John
BACKGROUND: Head and neck squamous cell carcinomas (HNSCCs) are debilitating diseases for which a patient's prognosis depends heavily on complete tumor resection. Currently, the surgeon's fingers determine the location of tissue margins. This study evaluated the diagnostic utility of a novel imaging modality, dynamic optical contrast imaging (DOCI), in the detection of HNSCC. This system generates contrast by illuminating the tissue with pulsed light and detecting variations in endogenous fluorophore lifetimes...
October 20, 2016: Cancer
Margaret M Fleming, Anna I Holbrook, Mary S Newell
OBJECTIVE: The purpose of this article is to delineate the potential techniques for percutaneous ablation of breast cancer, discuss the advantages and disadvantages of each technique, and provide results from recent studies on these technologies. The techniques discussed are cryotherapy, laser irradiation, microwave irradiation, radiofrequency ablation, high-intensity focused ultrasound ablation, and irreversible electroporation. CONCLUSION: Although percutaneous ablation techniques have some promising potential for less-invasive treatment of breast cancer, larger multicenter trials are needed to confirm their efficacy, especially in comparison with the reference standard of lumpectomy...
October 20, 2016: AJR. American Journal of Roentgenology
Anton S Becker, Katharina Martini, Kai Higashigaito, Roman Guggenberger, Gustav Andreisek, Thomas Frauenfelder
OBJECTIVE: The purpose of this study was to quantitatively and qualitatively determine the impact of radiation dose reduction on the image noise and quality of tomosynthesis studies of the wrist. MATERIALS AND METHODS: Imaging of six cadaver wrists was performed with tomosynthesis in anteroposterior position at a tube voltage of 60 kV and tube current of 80 mA and subsequently at 60 or 50 kV with different tube currents of 80, 40, or 32 mA. Dose-area products (DAP) were obtained from the electronically logged protocol...
October 20, 2016: AJR. American Journal of Roentgenology
Nirod Kumar Sarangi, K G Ayappa, Sandhya S Visweswariah, Jaydeep Kumar Basu
Cell membranes are believed to be highly complex dynamical systems having compositional heterogeneity involving several types of lipids and proteins as the major constituents. This dynamical and compositional heterogeneity is suggested to be critical to the maintenance of active functionality and response to chemical, mechanical, electrical and thermal stresses. However, delineating the various factors responsible for the spatio-temporal response of actual cell membranes to stresses can be quite challenging...
October 20, 2016: Physical Chemistry Chemical Physics: PCCP
Martina R Laidemitt, Eva T Zawadzki, Sara V Brant, Martin W Mutuku, Gerald M Mkoji, Eric S Loker
Paramphistomoids are ubiquitous and widespread digeneans that infect a diverse range of definitive hosts, being particularly speciose in ruminants. We collected adult worms from cattle, goats and sheep from slaughterhouses, and cercariae from freshwater snails from ten localities in Central and West Kenya. We sequenced cox1 (690 bp) and internal transcribed region 2 (ITS2) (385 bp) genes from a small piece of 79 different adult worms and stained and mounted the remaining worm bodies for comparisons with available descriptions...
October 20, 2016: Parasitology
Rodolfo Ciuffa, Etienne Caron, Alexander Leitner, Federico Uliana, Matthias Gstaiger, Ruedi Aebersold
NF-κB is a family of ubiquitous dimeric transcription factors that play a role in a myriad of cellular processes, ranging from differentiation to stress response and immunity. In inflammation, activation of NF-κB is mediated by pro-inflammatory cytokines, in particular the prototypic cytokines IL-1β and TNF-α, which trigger the activation of complex signaling cascades. In spite of decades of research, the system level understanding of TNF-α signaling is still incomplete. This is partially due to the limited knowledge at the proteome level...
October 20, 2016: Journal of Proteome Research
Salima El Chehadeh, Renaud Touraine, Fabienne Prieur, Willie Reardon, Thierry Bienvenu, Sandrine Chantot-Bastaraud, Martine Doco-Fenzy, Emilie Landais, Christophe Philippe, Nathalie Marle, Patrick Callier, Anne-Laure Mosca-Boidron, Francine Mugneret, Nathalie Le Meur, Alice Goldenberg, Anne-Marie Guerrot, Pascal Chambon, Véronique Satre, Charles Coutton, Pierre-Simon Jouk, Françoise Devillard, Klaus Dieterich, Alexandra Afenjar, Lydie Burglen, Marie-Laure Moutard, Marie-Claude Addor, Sébastien Lebon, Danielle Martinet, Jean-Luc Alessandri, Bérénice Doray, Marguerite Miguet, Didier Devys, Pascale Saugier-Veber, Séverine Drunat, Bernard Aral, Valérie Kremer, Stéphane Rondeau, Anne-Claude Tabet, Julien Thevenon, Christel Thauvin-Robinet, Nathalie Perreton, Vincent Des Portes, Laurence Faivre
Duplication of the Xq28 region, involving MECP2 (dupMECP2), has been primarily described in males with severe developmental delay, spasticity, epilepsy, stereotyped movements and recurrent infections. Carrier mothers are usually asymptomatic with an extremely skewed X chromosome inactivation (XCI) pattern. We report a series of six novel symptomatic females carrying a de novo interstitial dupMECP2, and review the 14 symptomatic females reported to date, with the aim to further delineate their phenotype and give clues for genetic counselling...
October 19, 2016: Clinical Genetics
Astrid Hagelkruys, Mirjam A Moser, Christian Seiser
Histone deacetylases (HDACs) play crucial roles during mammalian development and for cellular homeostasis. In addition, these enzymes are promising targets for small molecule inhibitors in the treatment of cancer and neurological diseases. Conditional HDAC knock-out mice are excellent tools for defining the functions of individual HDACs in vivo and for identifying the molecular targets of HDAC inhibitors in disease. Here, we describe the generation of tissue-specific HDAC knock-out mice and delineate a strategy for the generation of conditional HDAC knock-in mice...
2017: Methods in Molecular Biology
David Speed, Ken Fowler
The existing literature addressing Religion and Spirituality supports the idea that attending church is positively associated with health outcomes. However, within this literature there has been an impoverished effort to determine whether the Religiously Unaffiliated will report these positive relationships. Using representative data from Ontario (N = 3620), the relationships between Religious/Spiritual variables (Attendance, Prayer/Meditation, and Religiosity) and health outcomes (Happiness, Self-Rated Health, and Satisfaction with Life) were assessed...
October 19, 2016: Journal of Religion and Health
Michael Kongnyuy, Daniel M Halpern, Kaitlin E Kosinski, Aaron E Katz
PURPOSE: We aim to evaluate the current beliefs and practice patterns of urologists in regard to use of cryosurgery for management of PCa. METHODS: An anonymous 13-point survey was designed and sent out to members of the Society of Urologic Oncology (SUO), Endourological Society (ES) and American College of Cryosurgery (ACC). Descriptive statistics and univariate analyses were used to determine variables associated with the use of cryosurgery. RESULTS: Of the 206 responses received [81 (39...
October 19, 2016: International Urology and Nephrology
Christine Buff, Leonie Brinkmann, Paula Neumeister, Katharina Feldker, Carina Heitmann, Bettina Gathmann, Tanja Andor, Thomas Straube
BACKGROUND: Despite considerable effort, the neurobiological underpinnings of hyper-responsive threat processing specific to patients suffering from generalized anxiety disorder (GAD) remain poorly understood. The current functional magnetic resonance imaging (fMRI) study aims to delineate GAD-specific brain activity during immediate threat processing by comparing GAD patients to healthy controls (HC), to social anxiety disorder (SAD) and to panic disorder (PD) patients. METHOD: Brain activation and functional connectivity patterns to threat vs...
2016: NeuroImage: Clinical
Yasheng Chen, Rajat Dhar, Laura Heitsch, Andria Ford, Israel Fernandez-Cadenas, Caty Carrera, Joan Montaner, Weili Lin, Dinggang Shen, Hongyu An, Jin-Moo Lee
Although cerebral edema is a major cause of death and deterioration following hemispheric stroke, there remains no validated biomarker that captures the full spectrum of this critical complication. We recently demonstrated that reduction in intracranial cerebrospinal fluid (CSF) volume (∆ CSF) on serial computed tomography (CT) scans provides an accurate measure of cerebral edema severity, which may aid in early triaging of stroke patients for craniectomy. However, application of such a volumetric approach would be too cumbersome to perform manually on serial scans in a real-world setting...
2016: NeuroImage: Clinical
Leontine E Becking, Christiaan A de Leeuw, Bram Knegt, Diede L Maas, Nicole J de Voogd, Abdunnur, Iwan Suyatna, Katja T C A Peijnenburg
Marine lakes, with populations in landlocked seawater and clearly delineated contours, have the potential to provide a unique model to study early stages of evolution in coastal marine taxa. Here we ask whether populations of the mussel Brachidontes from marine lakes in Berau, East Kalimantan (Indonesia) are isolated from each other and from the coastal mangrove systems. We analyzed sequence data of one mitochondrial marker (Cytochrome Oxidase I (COI)), and two nuclear markers (18S and 28S). In addition, we examined shell shape using a geometric morphometric approach...
2016: PeerJ
Shigeru Shibata, Kenichi Ishizawa, Shunya Uchida
The kidney has a central role in long-term control of blood pressure, and decreased kidney function is a common but difficult-to-treat cause of hypertension. Conversely, elevated blood pressure contributes to the progression of chronic kidney disease. Steroid hormone aldosterone and its receptor mineralocorticoid receptor (MR) contribute to hypertension by increasing renal salt reabsorption and promote kidney dysfunction through direct effects on renal parenchymal cells. Accumulating data indicate that various mechanisms affect aldosterone-MR signaling...
October 20, 2016: Hypertension Research: Official Journal of the Japanese Society of Hypertension
Sayantan Maji, Pankaj Chaudhary, Irina Akopova, Phung M Nguyen, Richard J Hare, Ignacy Gryczynski, Jamboor K Vishwanatha
: Tumor-derived exosomes are emerging mediators of tumorigenesis and tissue-specific metastasis. Proteomic profiling has identified Annexin A2 as one of the most highly expressed proteins in exosomes; however, studies focused on the biological role of exosomal-AnnexinA2 (exo-AnxA2) are still lacking. In this study, mechanistic insight was sought regarding exo-AnxA2 and its function in angiogenesis and breast cancer metastasis. Multiple in vitro and in vivo techniques were used to study the role of exo-AnxA2 in angiogenesis...
October 19, 2016: Molecular Cancer Research: MCR
András Füredi, Szilárd Tóth, Kornélia Szebényi, Veronika F S Pape, Dóra Türk, Nóra Kucsma, László Cervenák, József Tóvári, Gergely Szakács
Despite significant progress, resistance to chemotherapy is still the main reason why cancer remains a deadly disease. An attractive strategy is to target the collateral sensitivity of otherwise multidrug resistant (MDR) cancer. In this study our aim was to catalogue various compounds that were reported to elicit increased toxicity in P-glycoprotein (Pgp) overexpressing MDR cells. We show that the activity of most of the serendipitously identified compounds reported to target MDR cells is in fact cell-line specific, and is not influenced significantly by the function of Pgp...
October 19, 2016: Molecular Cancer Therapeutics
Tilman Schubert, Yijing Wu, Kevin M Johnson, Oliver Wieben, Jane Maksimovic, Charles Mistretta, Patrick Turski
OBJECTIVES: Time-of-arrival (TOA) maps can be derived from high-resolution 4-dimensional (4D) contrast-enhanced magnetic resonance angiography (MRA) data sets to provide a quantitative description of contrast material arrival time in each voxel. This information can further be processed to create a compressed time evolution curve that virtually shortens the contrast bolus (virtual bolus [VB]). The purpose of this project was to determine whether TOA-enhanced 4D MRA and/or VB imaging improve the display of contrast kinetics in patients with vascular disease...
November 2016: Investigative Radiology
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"