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https://www.readbyqxmd.com/read/28343767/neural-cell-adhesion-molecule-expression-in-dilated-cardiomyopathy-is-associated-with-intramyocardial-inflammation-and-hypertrophy
#1
Karsten Ostermann, Heinz-Peter Schultheiss, Michel Noutsias
Chronic intramyocardial inflammation (inflammatory cardiomyopathy/DCMi) is linked to the pathogenesis of dilated cardiomyopathy (DCM). Neural cell adhesion molecule (NCAM) is involved in orchestrating cardiac muscle morphogenesis, but is down-regulated after embryogenesis. We investigated NCAM expression in adult DCM hearts, its possible association with DCMi-parameters, and with cardiomyocyte hypertrophy (CMH). Endomyocardial biopsies (EMBs) from DCM patients (n=85; n=37 females; age: 48±19years; LVEF <40%) and controls from non-cardiac deaths were immunostained for DCMi markers and for NCAM expression, and quantified by digital image analysis (DIA)...
March 18, 2017: International Journal of Cardiology
https://www.readbyqxmd.com/read/28342361/giant-leiomyosarcoma-of-the-rectum-with-lymph-node-metastasis-a-case-report-and-review-of-the-literature
#2
Hiroyuki Anzai, Hiroaki Nozawa, Junichiro Tanaka, Koji Yasuda, Kensuke Otani, Takeshi Nishikawa, Toshiaki Tanaka, Tomomichi Kiyomatsu, Keisuke Hata, Kazushige Kawai, Tetsuo Ushiku, Soichiro Ishihara, Toshimi Takano, Masashi Fukayama, Toshiaki Watanabe
INTRODUCTION: Leiomyosarcoma of the gastrointestinal tract is very rare, with a reported frequency of less than 0.1% of all malignancies of the colorectum. It is important to diagnose leiomyosarcoma definitively by immunohistochemical profiling of smooth muscle actin, desmin, and CD34. True leiomyosarcoma of the colorectum diagnosed by immunnohistochemical profiling is extremely rare that only 13 reports have been published in reviews of resected gastrointestinal mesenchymal tumors after 1998...
March 8, 2017: International Journal of Surgery Case Reports
https://www.readbyqxmd.com/read/28342060/glycogen-rich-clear-cell-squamous-cell-carcinoma-originating-in-the-oral-cavity
#3
Zaid H Khoury, Amr Bugshan, Joshua E Lubek, John C Papadimitriou, John R Basile, Rania H Younis
Clear cell squamous cell carcinoma (CCSCC) is a rare histological subtype of squamous cell carcinoma (SCC) that was originally described in the skin. Here, we report a case of a 66-year-old female patient who presented with a fungating ulcerative mass of the left lateral tongue extending anteriorly to the floor of the mouth, and posteriorly to the left retromolar fossa and the oropharynx. The patient had a history of SCC of the left posterior tongue that was treated with partial glossectomy and adjuvant radiotherapy...
March 24, 2017: Head and Neck Pathology
https://www.readbyqxmd.com/read/28341561/duvoglustat-hcl-increases-systemic-and-tissue-exposure-of-active-acid-%C3%AE-glucosidase-in-pompe-patients-co-administered-with-alglucosidase-%C3%AE
#4
Priya Kishnani, Mark Tarnopolsky, Mark Roberts, Kumarswamy Sivakumar, Majed Dasouki, Mazen M Dimachkie, Erika Finanger, Ozlem Goker-Alpan, Karl A Guter, Tahseen Mozaffar, Muhammad Ali Pervaiz, Pascal Laforet, Todd Levine, Matthews Adera, Richard Lazauskas, Sheela Sitaraman, Richie Khanna, Elfrida Benjamin, Jessie Feng, John J Flanagan, Jay Barth, Carrolee Barlow, David J Lockhart, Kenneth J Valenzano, Pol Boudes, Franklin K Johnson, Barry Byrne
Duvoglustat HCl (AT2220, 1-deoxynojirimycin) is an investigational pharmacological chaperone for the treatment of acid α-glucosidase (GAA) deficiency, which leads to the lysosomal storage disorder Pompe disease, which is characterized by progressive accumulation of lysosomal glycogen primarily in heart and skeletal muscles. The current standard of care is enzyme replacement therapy with recombinant human GAA (alglucosidase alfa [AA], Genzyme). Based on preclinical data, oral co-administration of duvoglustat HCl with AA increases exposure of active levels in plasma and skeletal muscles, leading to greater substrate reduction in muscle...
March 21, 2017: Molecular Therapy: the Journal of the American Society of Gene Therapy
https://www.readbyqxmd.com/read/28341495/a-phase-2-study-of-tmx-101-intravesical-imiquimod-for-the-treatment-of-carcinoma-in-situ-bladder-cancer
#5
Nicholas M Donin, Karim Chamie, Andrew T Lenis, Allan J Pantuck, Madhu Reddy, Dana Kivlin, Johanna Holldack, Rafaella Pozzi, Gil Hakim, Lawrence I Karsh, Donald L Lamm, Laurence H Belkoff, Arie S Belldegrun, Stuart Holden, Neal Shore
PURPOSE: Imiquimod is a toll-like receptor agonist with proven antitumor activity as a topical treatment for skin cancer. TMX-101 (Vesimune) is a novel liquid formulation of imiquimod optimized for intravesical delivery. The agent demonstrated safety as an intravesical treatment for non-muscle-invasive bladder cancer in a phase 1 clinical trial. We report the results of a phase 2 prospective multicenter clinical trial assessing the safety and activity of TMX-101. MATERIALS AND METHODS: Patients with non-muscle-invasive bladder cancer containing carcinoma in situ were eligible for inclusion...
February 2017: Urologic Oncology
https://www.readbyqxmd.com/read/28340105/morin-stain-detects-aluminum-containing-macrophages-in-macrophagic-myofasciitis-and-vaccination-granuloma-with-high-sensitivity-and-specificity
#6
Rati Chkheidze, Dennis K Burns, Charles L White, Diana Castro, Julie Fuller, Chunyu Cai
Macrophagic myofasciitis (MMF) is an inflammatory condition associated with the intramuscular (i.m.) injection of aluminum adjuvant-containing vaccines. It is clinically characterized by myalgia, weakness, and chronic fatigue and histologically by aggregates of cohesive macrophages with abundant basophilic, periodic acid-Schiff (PAS)-positive, diastase-resistant granules that percolate through the peri- and endomysium without eliciting substantial myofiber damage. The definitive diagnosis of MMF requires demonstration of aluminum within these macrophages...
March 15, 2017: Journal of Neuropathology and Experimental Neurology
https://www.readbyqxmd.com/read/28339163/next-generation-sequencing-of-urine-specimens-a-novel-platform-for-genomic-analysis-in-patients-with-non-muscle-invasive-urothelial-carcinoma-treated-with-bacille-calmette-gu%C3%A3-rin
#7
Sasinya N Scott, Irina Ostrovnaya, Caroline M Lin, Nancy Bouvier, Bernard H Bochner, Gopakumar Iyer, David Solit, Michael F Berger, Oscar Lin
BACKGROUND: Biopsies from patients with high-risk (HR) non-muscle-invasive urothelial carcinoma (NMIUC), especially flat urothelial carcinoma in situ, frequently contain scant diagnostic material or denuded mucosa only, and this precludes further extensive genomic analysis. This study evaluated the use of next-generation sequencing (NGS) analysis of urine cytology material from patients with HR NMIUC in an attempt to identify genetic alterations that might correlate with clinical features and responses to bacille Calmette-Guérin (BCG) treatment...
March 24, 2017: Cancer
https://www.readbyqxmd.com/read/28337443/urethral-reconstruction-using-mesothelial-cell-seeded-autogenous-granulation-tissue-tube-an-experimental-study-in-male-rabbits
#8
Shiwei Jiang, Zhonghua Xu, Yuanyuan Zhao, Lei Yan, Zunlin Zhou, Gangli Gu
Objective. This study was to evaluate the utility of the compound graft for tubularized urethroplasty by seeding mesothelial cells onto autogenous granulation tissue. Methods. Silastic tubes were implanted subcutaneously in 18 male rabbits, of which nine underwent omentum biopsies simultaneously for in vitro expansion of mesothelial cells. The granulation tissue covering the tubes was harvested 2 weeks after operation. Mesothelial cells were seeded onto and cocultured with the tissue for 7 days. A pendulous urethral segment of 1...
2017: BioMed Research International
https://www.readbyqxmd.com/read/28333917/a-clinical-utility-study-of-exome-sequencing-versus-conventional-genetic-testing-in-pediatric-neurology
#9
Lisenka E L M Vissers, Kirsten J M van Nimwegen, Jolanda H Schieving, Erik-Jan Kamsteeg, Tjitske Kleefstra, Helger G Yntema, Rolph Pfundt, Gert Jan van der Wilt, Lotte Krabbenborg, Han G Brunner, Simone van der Burg, Janneke Grutters, Joris A Veltman, Michèl A A P Willemsen
PURPOSE: Implementation of novel genetic diagnostic tests is generally driven by technological advances because they promise shorter turnaround times and/or higher diagnostic yields. Other aspects, including impact on clinical management or cost-effectiveness, are often not assessed in detail prior to implementation. METHODS: We studied the clinical utility of whole-exome sequencing (WES) in complex pediatric neurology in terms of diagnostic yield and costs. We analyzed 150 patients (and their parents) presenting with complex neurological disorders of suspected genetic origin...
March 23, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28332767/bcap31-associated-encephalopathy-and-complex-movement-disorder-mimicking-mitochondrial-encephalopathy
#10
Saleh Albanyan, Amal Al Teneiji, Nasim Monfared, Saadet Mercimek-Mahmutoglu
BCAP31, encoded by BCAP31, is involved in the export of transmembrane proteins from the endoplasmic reticulum. Pathogenic variants in BCAP31 results in global developmental delay, dystonia, deafness and dysmorphic features in males, called deafness, dystonia, and cerebral hypomyelination (DDCH) syndrome. We report a new patient with BCAP3-associated encephalopathy, DDCH syndrome, sensorineural hearing loss, generalized dystonia, and choreoathetosis. This 3.5-year-old boy had microcephaly and failure to thrive within the first 3 months of life...
March 23, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28331805/prevotella-osteomyelitis-after-dental-capping-procedure
#11
Alexander Williams, Thomas Kerkering
We present a 49 year old man who presented to the emergency department with severe lower back pain of 5 days duration. One week prior he had been diagnosed with a right psoas muscle abscess and was discharged with a 28 day course of moxifloxacin after the preliminary culture from the psoas grew an anaerobic organism. MRI of the lumbar spine showed marrow edema in the L2 body, occupying most of the anterior two thirds of the body, with cortical erosion at the anteroinferior aspect of L1. Blood cultures were negative and bone biopsy of L2 showed neutrophilic invasion and reactive changes...
2017: IDCases
https://www.readbyqxmd.com/read/28331757/inflammatory-myofibroblastic-tumor-of-the-breast-coexisting-with-pseudoangiomatous-stromal-hyperplasia
#12
Canan Kelten Talu, Yasemin Çakır, Ezgi Hacıhasanoğlu, Cem Leblebici, Şefika Aksoy, Mehmet Ali Nazlı
Inflammatory myofibroblastic tumors (IMTs) are uncommon breast lesions that consist of spindle cells accompanied by plasma cell-rich inflammatory infiltration, which may mimic breast cancer clinico-radiologically. A woman aged 38 years with a breast mass was referred to our general surgery clinic. The physical examination revealed a mass with irregular borders in the upper outer quadrant of the left breast. In mammography, the lesion was 15 mm in diameter with a spheric form and high density. Ultrasonographically, the mass was solid, heterogeneous, and hypoechoic with posterior enhancement...
October 2016: J Breast Health (2013)
https://www.readbyqxmd.com/read/28330812/molecular-evidence-for-differential-long-term-outcomes-of-early-life-severe-acute-malnutrition
#13
Allan Sheppard, Sherry Ngo, Xiaoling Li, Michael Boyne, Debbie Thompson, Anthony Pleasants, Peter Gluckman, Terrence Forrester
BACKGROUND: Severe acute malnutrition (SAM) in infants may present as one of two distinct syndromic forms: non-edematous (marasmus), with severe wasting and no nutritional edema; or edematous (kwashiorkor) with moderately severe wasting. These differences may be related to developmental changes prior to the exposure to SAM and phenotypic changes appear to persist into adulthood with differences between the two groups. We examined whether the different response to SAM and subsequent trajectories may be explained by developmentally-induced epigenetic differences...
March 8, 2017: EBioMedicine
https://www.readbyqxmd.com/read/28330496/calcium-dysregulation-functional-calpainopathy-and-endoplasmic-reticulum-stress-in-sporadic-inclusion-body-myositis
#14
David R Amici, Iago Pinal-Fernandez, Davi A G Mázala, Thomas E Lloyd, Andrea M Corse, Lisa Christopher-Stine, Andrew L Mammen, Eva R Chin
Sporadic inclusion body myositis (IBM) is the most common primary myopathy in the elderly, but its pathoetiology is still unclear. Perturbed myocellular calcium (Ca(2+)) homeostasis can exacerbate many of the factors proposed to mediate muscle degeneration in IBM, such as mitochondrial dysfunction, protein aggregation, and endoplasmic reticulum stress. Ca(2+) dysregulation may plausibly be initiated in IBM by immune-mediated membrane damage and/or abnormally accumulating proteins, but no studies to date have investigated Ca(2+) regulation in IBM patients...
March 22, 2017: Acta Neuropathologica Communications
https://www.readbyqxmd.com/read/28329045/extensive-type-ii-muscle-fiber-atrophy-in-elderly-female-hip-fracture-patients
#15
Irene Fleur Kramer, Tim Snijders, Joey S J Smeets, Marika Leenders, Janneau van Kranenburg, Marcel den Hoed, Lex B Verdijk, Martijn Poeze, Luc J C van Loon
Background: Sarcopenia, or the loss of muscle mass and strength, is known to increase the risk for falls and (hip) fractures in older people. The objective of this study was to assess the skeletal muscle fiber characteristics in elderly female hip fracture patients. Method: Percutaneous needle biopsies were collected from the vastus lateralis muscle in 15 healthy young women (20 ± 0.4 years), 15 healthy elderly women (79 ± 1.7 years), and 15 elderly women with a fall-related hip fracture (82 ± 1...
January 20, 2017: Journals of Gerontology. Series A, Biological Sciences and Medical Sciences
https://www.readbyqxmd.com/read/28324887/association-between-hypoxic-volume-and-underlying-hypoxia-induced-gene-expression-in-oropharyngeal-squamous-cell-carcinoma
#16
Yae-Eun Suh, Katherine Lawler, Rhonda Henley-Smith, Lucy Pike, Russell Leek, Sally Barrington, Edward W Odell, Tony Ng, Francesco Pezzella, Teresa Guerrero-Urbano, Mahvash Tavassoli
BACKGROUND: Hypoxia imaging is a promising tool for targeted therapy but the links between imaging features and underlying molecular characteristics of the tumour have not been investigated. The aim of this study was to compare hypoxia biomarkers and gene expression in oropharyngeal squamous cell carcinoma (OPSCC) diagnostic biopsies with hypoxia imaged with (64)Cu-ATSM PET/CT. METHODS: (64)Cu-ATSM imaging, molecular and clinical data were obtained for 15 patients...
March 21, 2017: British Journal of Cancer
https://www.readbyqxmd.com/read/28324340/quantitative-18-f-fluorocholine-positron-emission-tomography-for-prostate-cancer-correlation-between-kinetic-parameters-and-gleason-scoring
#17
Joshua J D Schaefferkoetter, Ziting Wang, Mary C Stephenson, Sharmili Roy, Maurizio Conti, Lars Eriksson, David W Townsend, Thomas Thamboo, Edmund Chiong
BACKGROUND: The use of radiolabeled choline as a positron emission tomography (PET) agent for imaging primary tumors in the prostate has been evaluated extensively over the past two decades. There are, however, conflicting reports of its sensitivity and the relationship between choline PET imaging and disease staging is not fully understood. Moreover, relatively few studies have investigated the correlation between tracer uptake and histological tumor grade. This work quantified (18)F-fluorocholine in tumor and healthy prostate tissue using pharmacokinetic modeling and stratified uptake parameters by histology grade...
December 2017: EJNMMI Research
https://www.readbyqxmd.com/read/28324055/substrate-metabolism-and-insulin-sensitivity-during-fasting-in-obese-human-subjects-impact-of-gh-blockade
#18
Morten Høgild Pedersen, Mads Vandsted Svart, Janne Lebeck, Martin Bidlingmaier, Hans Stødkilde-Jørgensen, Steen Bønløkke Pedersen, Niels Møller, Niels Jessen, Jens O L Jørgensen
Context: Insulin resistance and metabolic inflexibility are features of obesity and are amplified by fasting. GH secretion increases during fasting and GH causes insulin resistance. Objective: To study the metabolic effects of GH blockade during fasting in obese subjects. Subjects and Methods: Nine obese males were studied thrice in a randomized design: 1) After an overnight fast (Control), 2) After 72 h fasting (Fasting) and 3) After 72 h fasting with GH blockade (pegvisomant) (Fasting + GHA)...
January 18, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28323974/phenotypic-spectrum-in-osteogenesis-imperfecta-due-to-mutations-in-tmem38b-unravelling-a-complex-cellular-defect
#19
Emma A Webb, Meena Balasubramanian, Nadja Fratzl-Zelman, Wayne A Cabral, Hannah Titheradge, Atif Alsaedi, Vrinda Saraff, Julie Vogt, Trevor Cole, Susan Stewart, Nicola J Crabtree, Brandi M Sargent, Sonja Gamsjaeger, Eleftherios P Paschalis, Paul Roschger, Klaus Klaushofer, Nick J Shaw, Joan C Marini, Wolfgang Högler
Context: Recessive mutations in TMEM38B cause type XIV osteogenesis imperfecta (OI) by dysregulating intracellular calcium flux. Objectives: Clinical and bone material phenotype description and osteoblast differentiation studies. Design and Setting: Natural history study in paediatric research centres. Patients: Eight patients with type XIV OI. Main Outcome Measures: Clinical examinations included: bone mineral density, radiographs, echocardiography and muscle biopsy...
March 16, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28321925/effects-of-6-months-aerobic-interval-training-on-skeletal-muscle-metabolism-in-middle-aged-metabolic-syndrome-patients
#20
A Guadalupe-Grau, V E Fernández-Elías, J F Ortega, F Dela, J W Helge, R Mora Rodríguez
AIM: Aerobic interval training (AIT) improves the health of metabolic syndrome patients (MetS) more than moderate intensity continuous training. However, AIT has not been shown to reverse all metabolic syndrome risk factors, possibly due to the limited duration of the training programs. PURPOSE: To assess the effects of 6 months of AIT on cardio-metabolic health and muscle metabolism in middle aged MetS. METHODS: Eleven MetS (54.5 ± 0.7 yrs old) underwent 6 month of 3 days a week supervised AIT program on a cycle-ergometer...
March 21, 2017: Scandinavian Journal of Medicine & Science in Sports
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