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Jolanta Skalska-Sadowska, Małgorzata Dawidowska, Bronisława Szarzyńska-Zawadzka, Małgorzata Jarmuż-Szymczak, Joanna Czerwińska-Rybak, Ludomiła Machowska, Katarzyna Derwich
We report a pediatric case of acute T-lymphoblastic leukemia (T-ALL) with NOTCH1(wt) , FBXW7(wt) , STIL/TAL1, and PTEN (exons 2, 3, 4, 5) monoallelic deletions, biallelic CDKN2A/B deletion, and a minor t(8;14)(q24;q11)-positive subclone. Undetectable by a flow cytometric minimal residual disease assay, the t(8;14)(q24;q11) subclone expanded as detected by fluorescence in situ hybridization from 5% at diagnosis to 26% before consolidation and 100% at relapse bearing a monoallelic deletion (exons 2, 3) with a new frameshift mutation of PTEN and the same set of remaining molecular alterations...
October 19, 2016: Pediatric Blood & Cancer
Suma Babu, Erik P Pioro, Jianbo Li, Yuebing Li
INTRODUCTION: We compared the yield of limb and thoracic paraspinal muscles for revealing lower motor neuron (LMN) dysfunction on electromyography (EMG) in amyotrophic lateral sclerosis (ALS). METHODS: A retrospective review of 354 patients with clinically definite or probable ALS was performed. Seventeen limb muscles and thoracic paraspinal muscles were evaluated for the presence of both active and chronic denervation. RESULTS: Distal limb muscles showed the highest electrodiagnostic sensitivities of LMN dysfunction in ALS regardless of onset region and diagnostic certainty at the time of diagnosis...
October 19, 2016: Muscle & Nerve
Robson Azevedo Dutra, Adriana Cartafina Perez Boscollo
Background: The anorectal anomalies consist in a complex group of birth defects. Laparoscopic-assisted anorectoplasty improved visualization of the rectal fistula and the ability to place the pull-through segment within the elevator muscle complex with minimal dissection. There is no consensus on how the fistula should be managed. Aim: To evaluate the laparoscopic-assisted anorectoplasty and the treatment of the rectal urinary fistula by a bipolar sealing device...
July 2016: Arquivos Brasileiros de Cirurgia Digestiva: ABCD, Brazilian Archives of Digestive Surgery
Joel E Abbott, Roger L Sur
The aim of this paper was to evaluate the current technology and designs of flexible ureterorenoscopes. We will review contemporary fiberoptic and digital ureteroscopes, including a discussion on ureteroscope damage and repair, and lastly present the projected future of flexible ureterorenoscopy. Ureterorenoscopy has evolved dramatically over the past several decades, which has led to landscape reshaping of stone disease treatment and upper tract pathology. Advancements in tip control, miniaturization of scopes, introduction of a digital chip on the tip, disposable devices to augment surgery, surgical experience/familiarity and most recently single use scopes are all independent factors that have increased flexible ureterorenoscopy adoption and success...
October 19, 2016: Minerva Urologica e Nefrologica, the Italian Journal of Urology and Nephrology
Pierre-Olivier Barale, Paolo Mora, Marie-Hélène Errera, Raphaëlle Ores, Michel Pâques, José-Alain Sahel
PURPOSE: We discuss a modified surgical procedure for the treatment of macular folds complicating retinal reattachment surgery. METHODS: To facilitate the completion of the macular redetachment and the subsequent unrolling of the fold, we propose the subretinal injection, in addition to the conventional balanced salt solution, of filtered air as an original approach. In the presence of a subretinal air bubble, the action of gravity on the perfluorocarbon liquid in the vitreous cavity combined with an active globe manipulation proved to be very effective for flattening the central retina...
October 18, 2016: Retinal Cases & Brief Reports
Anand Kaul, Sunil Manjila, Jonathan P Miller
: Isadore Max Tarlov (1905-1977) is primarily remembered for his 1938 description of the eponymous perineural "Tarlov cyst." However, during his long career as a neurosurgeon and researcher, he was responsible for many other observations and inventions that influenced the development of neurosurgery in the 20th century. While studying at Johns Hopkins Medical School he was acquainted with Walter Dandy, and he became the first resident to study under Wilder Penfield at the newly formed Montreal Neurological Institute...
November 2016: Neurosurgery
Vivian E Strong, Sepideh Gholami, Manish A Shah, Laura H Tang, Yelena Y Janjigian, Mark Schattner, Luke V Selby, Sam S Yoon, Erin Salo-Mullen, Zsofia K Stadler, David Kelsen, Murray F Brennan, Daniel G Coit
OBJECTIVE: The aim of this study was to describe postoperative outcomes of total gastrectomy at our institution for patients with hereditary diffuse gastric cancer (HDGC). BACKGROUND: HDGC, which is mainly caused by germline mutations in the E-cadherin gene (CDH1), renders a lifetime risk of gastric cancer of up to 70%, prompting a recommendation for prophylactic total gastrectomy. METHODS: A prospective gastric cancer database identified 41 patients with CDH1 mutation who underwent total gastrectomy during 2005 to 2015...
October 17, 2016: Annals of Surgery
Nese Karadag, Kerem Tolan, Emine Samdanci, Ayse Selimoglu, Nusret Akpolat, Sezai Yilmaz
OBJECTIVES: Wilson disease is a rare genetic disease with clinical and histopathologic differential diagnostic challenges. In this study, we evaluated the histopathologic findings of explanted livers in Wilson disease, with special emphasis on copper histochemistry. MATERIALS AND METHODS: Our study group was recruited by reviewing archived histopathology reports and the liver transplant clinic patient records retrospectively for patients who had liver transplant for Wilson disease between January 2010 and June 2015, at Turgut Ozal Medical Center...
October 14, 2016: Experimental and Clinical Transplantation
T V Lisovskaya, G B Mal'gina, T A Perepletina, M A Chistyakov, I V Dan'kova, O A Melkozerova
AIM: The purpose of the study was to investigate the morphological features of endometrium in patients with viral hepatitis type C. MATERIALS AND METHODS: A morphological survey was conducted involving endometrium sections stained with hematoxylin and eosin and Van Gieson's picrofuchsin collected from 140 women of reproductive age, among them 70 patients were diagnosed with chronic hepatitis type C (CHC) infection with minimal (40 patients) and moderate activity (30 patients), and 70 women suffered from endometrial proliferative diseases without viral hepatitis (comparison group)...
October 2016: Gynecological Endocrinology
M Frascaria, M Casinelli, S Mauro, M M D'Amario, R Gatto, G Marzo
BACKGROUND: Optimal integration and long-term stability of oral rehabilitations require correct diagnostic approach, appropriate pre-prosthetic treatments and accurate therapeutic protocols. Technology provides devices to optimise therapeutic results, according to biologic constraints and aesthetic parameters. CASE REPORT: The present report describes a multidisciplinary management in a young patient affected by lateral incisor agenesis, including pre-prosthetic orthodontic treatment and restorative and implant-supported prosthetic rehabilitation...
September 2016: European Journal of Paediatric Dentistry: Official Journal of European Academy of Paediatric Dentistry
Aaron J Celestian, Caleb J Chappell, Melinda J Rucks, Pauline Norris
The ion exchange of yttrium, one of the five most critical rare-earth elements as outlined by the U.S. Department of Energy, into ETS-4 is a dynamic, multistep ion exchange process. The ion exchange process was followed using in situ time-resolved Raman spectroscopy, and the crystal structures of the pre-exchange and post-exchange forms were determined by single-crystal X-ray diffraction. In situ Raman spectroscopy is an ideal tool for this type of study, as it measures the spectral changes that are a result of molecular geometry changes at fast time intervals, even where symmetry and unit volume changes are minimally detected by X-ray diffraction...
October 19, 2016: Inorganic Chemistry
Grace Yim, Wenliang Wang, Maulik N Thaker, Stephanie Tan, Gerard D Wright
Modification of natural product backbones is a proven strategy for the development of clinically useful antibiotics. Such modifications have traditionally been achieved through medicinal chemistry strategies or via in vitro enzymatic activities. In an orthogonal approach, engineering of biosynthetic pathways using synthetic biology techniques can generate chemical diversity. Here we report the use of a minimal teicoplanin class glycopeptide antibiotic (GPA) scaffold expressed in a production-optimized Streptomyces coelicolor strain to expand GPA chemical diversity...
September 9, 2016: ACS Infectious Diseases
Scott J Hughes, Leanne Barnard, Katayoun Mottaghi, Wolfram Tempel, Tetyana Antoshchenko, Bum Soo Hong, Abdellah Allali-Hassani, David Smil, Masoud Vedadi, Erick Strauss, Hee-Won Park
The potent antistaphylococcal activity of N-substituted pantothenamides (PanAms) has been shown to at least partially be due to the inhibition of Staphylococcus aureus's atypical type II pantothenate kinase (SaPanKII), the first enzyme of coenzyme A biosynthesis. This mechanism of action follows from SaPanKII having a binding mode for PanAms that is distinct from those of other PanKs. To dissect the molecular interactions responsible for PanAm inhibitory activity, we conducted a mini SAR study in tandem with the cocrystallization of SaPanKII with two classic PanAms (N5-Pan and N7-Pan), culminating in the synthesis and characterization of two new PanAms, N-Pip-PanAm and MeO-N5-PanAm...
September 9, 2016: ACS Infectious Diseases
Aijie Cai, Wusheng Guo, Luis Martínez-Rodríguez, Arjan W Kleij
The first general asymmetric synthesis of alfa,alfa-disubstituted allylic amines based on a palladium-catalyzed allylic amination has been developed. The protocol uses highly modular vinyl cyclic carbonates and unactivated aromatic amine nucleophiles as substrates. The catalytic process features minimal waste production, ample scope in reaction partners, high asymmetric induction up to 97% ee and operational simplicity.
October 19, 2016: Journal of the American Chemical Society
Nabita Singh, Kellie Knight, Caroline Wright, Marilyn Baird, Duane Akroyd, Robert D Adams, Michal E Schneider
INTRODUCTION: Evidence demonstrates that health care professionals are more prone to burnout than other professionals due to the emotionally taxing interactions they have with their patients on a daily basis. The aims of this study were to measure occupational burnout levels among sonographers, radiographers and radiologists and to examine predictors of burnout according to demographic characteristics. METHODS: A cross-sectional online survey was administered in 2010 to radiographers, sonographers and radiologists who were members of the following professional bodies: Australian Institute of Radiography, Australian Sonographers Association and The Royal Australian and New Zealand College of Radiologists...
October 18, 2016: Journal of Medical Imaging and Radiation Oncology
Ming Jiang, Hao Wang, Yingjie Li, Haichuan Zhang, Guoxin Zhang, Zhiyi Lu, Xiaoming Sun, Lei Jiang
Constructing a nanostructured electrode with superaerophobic surface property (i.e., superlow adhesion to gas bubbles) has been strikingly highlighted as an advanced technology to minimize the energy loss during various electrochemical gas evolution reactions. Herein, aiming at enhancing the performance of chlorine evolution reaction (ClER), which holds the key for chlor-alkali industry as well as water treatment, a nanostructured RuO2 @TiO2 electrode is demonstrated to overcome the bubble shielding effect, thereby maximizing the working area and offering a robust working condition...
October 18, 2016: Small
Thavasyappan Thambi, V H Giang Phan, Doo Sung Lee
Stimuli-sensitive injectable polymeric hydrogels are one of the promising delivery vehicles for the controlled release of bioactive agents. In aqueous solutions, these polymers are able to switch sol-to-gel transitions in response to various stimuli including pH, temperature, light, enzyme and magnetic field. Therapeutic agents, including chemotherapeutic agents, protein drugs or cells, are easily mixed with the low-viscous polymer solution at room temperature. Therapeutic-agents-containing solutions are readily injected into target sites through syringe or catheter, which could form hydrogel depot and serve as bioactive molecules release carriers...
October 18, 2016: Macromolecular Rapid Communications
Hongdo Do, Daniel Cameron, Ramyar Molania, Bibhusal Thapa, Gareth Rivalland, Paul L Mitchell, Carmel Murone, Thomas John, Anthony Papenfuss, Alexander Dobrovic
Identifying circulating tumour DNA (ctDNA) for monitoring of cancer therapy is dependent on the development of readily designed, sensitive cancer-specific DNA markers. Genomic rearrangements that are present in the vast majority of cancers provide such markers.Tumour DNA isolated from two fresh-frozen lung tumours underwent whole genome sequencing. Genomic rearrangements were detected using a new computational algorithm, GRIDSS. Four genomic rearrangements from each tumour were chosen for further study using rearrangement-specific primers...
2016: Advances in Experimental Medicine and Biology
Stefan Holdenrieder
Liquid profiling is a traditional concept in laboratory diagnostics using patterns of blood-derived biochemical molecules for disease detection and characterization. Beyond protein and cellular parameters, molecular biomarkers at the DNA, RNA and miRNA level have been developed as promising diagnostic tools in metabolic and malignant diseases as new technologies for ultrasensitive profiling of nucleic acids in blood and body fluids became available. In cancer disease, they are successfully applied for the stratification of patients for individually tailored therapies, treatment monitoring and the sensitive detection of minimal residual disease...
2016: Advances in Experimental Medicine and Biology
Anna Prigitano, Caterina Cavanna, Marco Passera, Cristina Ossi, Eugenio Sala, Gianluigi Lombardi, Anna Grancini, Concetta De Luca, Simone Bramati, Marina Gelmi, Milvana Tejada, Romualdo Grande, Claudio Farina, Fabiola Lallitto, Anna Maria Tortorano
PURPOSE: The aim of this study was to monitor recent changes in the epidemiology of candidemia and in the antifungal susceptibility profiles of Candida isolates in one Italian region (Lombardy) in 2014-2015 in comparison with two other studies performed in the same area in 1997-1999 and in 2009. METHODS: A laboratory-based surveillance was conducted in 11 microbiology laboratories. Identification of Candida isolates from 868 episodes and antifungal susceptibility testing (YeastOne) was performed locally...
October 17, 2016: Infection
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