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Jitka Rybová, Ladislav Kuchar, Helena Hulková, Befekadu Asfaw, Robert Dobrovolný, Jakub Sikora, Vladimír Havlícek, Ludovít Škultéty, Jana Ledvinová
Blood group B glycosphingolipids (B-GSLs) are substrates of the lysosomal alpha-galactosidase A (AGAL). Similar to its major substrate - globotriaosylceramide (Gb3Cer) - B-GSLs are not degraded and accumulate in the cells of patients affected by an inherited defect of AGAL activity (Fabry disease - FD).The pancreas is a secretory organ known to have high biosynthesis of blood group GSLs. Herein, we provide a comprehensive overview of the biochemical and structural abnormalities in pancreatic tissue from two male FD patients with blood group B...
March 14, 2018: Glycobiology
Kevin D Martin, Jeffrey Wake, Laura Dawson, J Preston Van Buren
Background: The prevalence of Achilles tendon (AT) pathology is common and can result in disability. Understanding normal AT properties can improve our ability to prevent AT injuries. We examined the cross-sectional area of the AT at multiple levels in an asymptomatic population of Army Rangers. Methods: This is a prospective cohort study composed of 41 voluntarily recruited United States Army Rangers deployed in a combat theater. All subjects were members of the Ranger Regiment participating in more than 20 h of intense bipedal non-sport weekly training with no history of AT pathology...
March 14, 2018: Military Medicine
Vassilis E Papadopoulos, Georgia Nikolopoulou, Ivi Antoniadou, Antonia Karachaliou, Giovanna Arianoglou, Evangelia Emmanouilidou, S Pablo Sardi, Leonidas Stefanis, Kostas Vekrellis
Glucocerebrosidase gene (GBA) mutations are the most common genetic contributor to Parkinson's Disease (PD) and are associated with decreased Glucocerebrosidase (GCase) enzymatic activity in PD. PD patients without GBA mutations also exhibit lower levels of GCase activity in the central nervous system (CNS) suggesting a potential contribution of the enzyme activity in disease pathogenesis, possibly by alteration of lysosomal function. α-synuclein, a protein with a central role in PD pathogenesis, has been shown to be secreted partly in association with exosomes...
March 14, 2018: Human Molecular Genetics
Olivier Barbier, Maelle Racle
Introduction: The current evolution of surgical practices is increasingly trending toward hyper-specialization. For military surgeons, their practice in France does not differ from their civilian counterparts. In contrast, in external operations, they have to deal with specific war injuries in austere conditions. They are also required to take care of local populations. Therefore, specific training is necessary, and the French Military Health Service Academy (Ecole du Val-de-Grâce) Paris has set up a specific training called Advanced Course for Deployment Surgery (ACDS) in 2007...
March 14, 2018: Military Medicine
Hiroyuki Jinnouchi, Renu Virmani, Aloke V Finn
No abstract text is available yet for this article.
March 13, 2018: European Heart Journal
Robert Foerster, B C John Cho, Daniel K Fahim, Peter C Gerszten, John C Flickinger, Inga S Grills, Maha S Jawad, C Ronald Kersh, Daniel Létourneau, Frederick Mantel, Arjun Sahgal, John H Shin, Brian A Winey, Matthias Guckenberger
BACKGROUND: Stereotactic body radiotherapy (SBRT) of the spine provides superior tumor control, but vertebral compression fractures are increased and the pathophysiological process underneath is not well understood. Data on histopathological changes, particularly after salvage SBRT (sSBRT) following conventional irradiation, are scarce. OBJECTIVE: To investigate surgical specimens after sSBRT and primary SBRT (pSBRT) regarding histopathological changes. METHODS: We assessed 704 patients treated with spine SBRT 2006 to 2012...
March 14, 2018: Neurosurgery
Benedikt Hacker, Christoph Schultheiß, Michael Döring, Ursula Kurzik-Dumke
This study provides first insights into the involvement of hNOT/ALG3, the human counterpart of the Drosophila NOT and yeast ALG3 gene, in various putative molecular networks. HNOT/ALG3 encodes two translated transcripts encoding precursor proteins differing in their N-terminus and showing 33% identity with the yeast asparagine-linked glycosylation 3 (ALG3) protein. Experimental evidence for the functional homology of the proteins of fly and man in the N-glycosylation has still to be provided. In this study, using the yeast two-hybrid technique we identify 17 molecular partners of hNOT-1/ALG3-1...
March 14, 2018: Human Molecular Genetics
Miriam Fritz, Benjamin Berger, Mathias Schemmerer, Dominique Endres, Jürgen J Wenzel, Oliver Stich, Marcus Panning
There is growing evidence that hepatitis E virus (HEV) infection can present with extrahepatic manifestations including neurological disorders. Among these, neuralgic amyotrophy (NA) has been reported to occur in some industrialized countries. We investigated 35 patients with NA and a control group for markers of HEV infection. Acute HEV infection was found in NA patients only and was associated with an inflammatory response in the central nervous system. Shedding of HEV RNA into the cerebrospinal fluid and intrathecal production of anti-HEV IgM occurred in one patient suggesting that HEV is neurotropic...
March 14, 2018: Journal of Infectious Diseases
K Blouhos, K A Boulas, A Paraskeva, I Kariotis, N Barettas, A Hatzigeorgiadis
INTRODUCTION: Secondary pancreatic tumors are uncommon and account for 2-5% of pancreatic cancer. Tumors characterized most commonly with pancreatic involvement are lymphoma, renal cell and lung carcinomas. PRESENTATION OF CASE: A 76-year-old female patient with obstructive jaundice as the primary symptom and inguinal lymphadenopathy is presented. Imaging revealed a bulky solitary solid pancreatic head mass along with paraaortic and mesenteric lymphadenopathy. The absence of a previous history of malignancy and the presence of a dominant pancreatic mass along with distal lymphadenopathy confined differential diagnosis to advanced secondary pancreatic lymphoma, which is the most common secondary pancreatic tumor, and locally advanced/metastatic pancreatic adenocarcinoma...
March 7, 2018: International Journal of Surgery Case Reports
Jesse M Charlton, Natasha M Krowchuk, Gillian L Hatfield, Jordan A Guenette, Michael A Hunt
BACKGROUND: Gait modification is a treatment approach often used for a variety of neuromuscular and musculoskeletal pathologies. Gait modification is commonly applied to a single limb, as is done with foot rotation (FR) in people with knee osteoarthritis (KOA). However, the extent to which gait changes observed in the trained limb are also exhibited in the untrained, contralateral limb during a training session is unknown. RESEARCH QUESTION: The purpose of this study was to examine the within-limb FR differences across four unilateral FR modifications compared to natural walking...
March 6, 2018: Gait & Posture
Richard Teke Ngomba, Gilles van Luijtelaar
Metabotropic glutamate (mGlu) receptors are expressed in key regions of the cortex and the thalamus and are known to regulate spike and wave discharges (SWDs), the electroclinical hallmarks of absence seizures. Recent preclinical studies have highlighted the therapeutic potential of selective group I and III mGlu receptor subtype allosteric modulators, which can suppress pathological SWDs. Of particular interest are positive allosteric modulators (PAMs) for mGlu5 receptors, as they currently show the most promise as novel anti-absence epilepsy drugs...
March 13, 2018: Current Opinion in Pharmacology
Evgenii Tcyganov, Jerome Mastio, Eric Chen, Dmitry I Gabrilovich
In recent years, myeloid-derived suppressor cells (MDSC) have emerged as one of the major inhibitors of immune effector cell function in cancer. MDSC represent a heterogeneous population of largely immature myeloid cells that are characterized by a pathological state of activation and display potent immune suppressive activity. Two major subsets of MDSC have been identified: monocytic (M-MDSC) and polymorphonuclear (PMN-MDSC). PMN-MSDC share phenotypic and morphologic features with neutrophils, whereas M-MDSC are similar to monocytes and are characterized by high plasticity...
March 13, 2018: Current Opinion in Immunology
Dong-Keon Lee, Ji-Hee Kim, Joohwan Kim, Seunghwan Choi, MinSik Park, Wonjin Park, Suji Kim, Kyu-Sun Lee, Taesam Kim, Jiwon Jung, Yoon Kyung Choi, Kwon-Soo Ha, Moo-Ho Won, Timothy R Billiar, Young-Guen Kwon, Young-Myeong Kim
Regulated in development and DNA damage responses (REDD)-1, an inhibitor of mammalian target of rapamycin (mTOR), is induced by various cell stressors, including LPS, a major player in the pathogenesis of endotoxemic shock. However, the pathologic role of REDD-1 in endotoxemia is largely unknown. We found that LPS increased REDD-1 expression, nuclear transcription factor-κB (NF-κB) activation, and inflammation and that these responses were suppressed by REDD-1 knockdown and in REDD-1+/- macrophages. REDD-1 overexpression stimulated NF-κB-dependent inflammation without additional LPS stimulation...
March 16, 2018: FASEB Journal: Official Publication of the Federation of American Societies for Experimental Biology
Emanuel Rivera-Rosado, David Beaton-Comulada, Eric Hernandez-Ortiz, Pablo V Marrero-Ortiz
Fibrous dysplasia is a benign developmental disorder of bone in which fibrous connective tissue containing abnormal bone with irregular trabeculae replaces normal cancellous bone. It may affect 1 (monostotic) or multiple bones (polyostotic). Polyostotic disease is the less common of the 2, occurring in only 20 to 25% of fibrous dysplasia patients and tending to affect those who are younger than 10 years of age; patients having this form tend to experience bone enlargement beyond normal skeletal maturation, which can cause pain, progressive damage, and increased risk of pathological fracture...
March 2018: Puerto Rico Health Sciences Journal
Juan M Marqués-Lespier, Marievelisse Soto-Salgado, María González-Pons, Vanessa Méndez, Katerina Freyre, Carlos Beltrán, Luis R Pericchi, Marcia Cruz-Correa
OBJECTIVE: Colorectal cancer (CRC) is a leading causes of cancer death among men and women. The purpose of this study was to determine the prevalence of oligopolyposis (≥20 synchronous colorectal adenomas) and its associated clinicopathological characteristics in Hispanics with incident CRC. METHODS: Pathology reports from individuals diagnosed with CRC (2007 to 2011) were obtained from the PR Central Cancer Registry. Colorectal polyp burden was calculated using pathology reports and the data was normalized to colon segment size...
2018: Puerto Rico Health Sciences Journal
Shannon N Rhoads, Zachary T Monahan, Debra S Yee, Frank P Shewmaker
Subcellular mislocalization and aggregation of the human FUS protein occurs in neurons of patients with subtypes of amyotrophic lateral sclerosis and frontotemporal dementia. FUS is one of several RNA-binding proteins that can functionally self-associate into distinct liquid-phase droplet structures. It is postulated that aberrant interactions within the dense phase-separated state can potentiate FUS's transition into solid prion-like aggregates that cause disease. FUS is post-translationally modified at numerous positions, which affect both its localization and aggregation propensity...
March 16, 2018: International Journal of Molecular Sciences
Elisa Fiume, Jacopo Barberi, Enrica Verné, Francesco Baino
Nowadays, bioactive glasses (BGs) are mainly used to improve and support the healing process of osseous defects deriving from traumatic events, tumor removal, congenital pathologies, implant revisions, or infections. In the past, several approaches have been proposed in the replacement of extensive bone defects, each one with its own advantages and drawbacks. As a result, the need for synthetic bone grafts is still a remarkable clinical challenge since more than 1 million bone-graft surgical operations are annually performed worldwide...
March 16, 2018: Journal of Functional Biomaterials
Renata Gruszka, Magdalena Zakrzewska
The fundamental function of ribonucleic acids is to transfer genetic information from DNA to protein during translation process, however, this is not the only way connecting active RNA sequences with essential biological processes. Up until now, many RNA subclasses of different size, structure, and biological function were identified. Among them, there are non-coding single-stranded microRNAs (miRNAs). This subclass comprises RNAs of 19-25 nucleotides in length that modulate the activity of well-defined coding RNAs and play a crucial role in many physiological and pathological processes...
March 16, 2018: International Journal of Molecular Sciences
Robert Beaulieu, Kaden Andre, Ronald Mancini
PURPOSE: To determine if frontalis muscle contraction can be induced by manipulating visual and eyelid proprioceptive inputs through simulating visual deprivation and ptosis. METHODS: Volunteers without prior eyelid or forehead pathologic study were recruited for this nonrandomized, prospective study. Baseline and study phase brow positions were documented. The first phase was to simulate visual deprivation and the second to simulate ptosis. The dominant eye was used for each phase...
March 14, 2018: Ophthalmic Plastic and Reconstructive Surgery
Laura Tarancon-Diez, Rebeca S De Pablo-Bernal, José Luis Jiménez, Ana I Álvarez-Ríos, Miguel Genebat, Isaac Rosado-Sánchez, María-Ángeles Muñoz-Fernández, Ezequiel Ruiz-Mateos, Manuel Leal
OBJECTIVE: Cardiovascular diseases (CVDs) are one of the main causes of morbimortality in HIV-infected patients on suppressive antiretroviral therapy. The objective of this work was to evaluate the role of single nucleotide polymorphisms (SNPs) in lipopolysaccharide (LPS) Toll-like receptor 4 (TLR4) and CVDs occurrence in HIV-infected patients. Additionally, the functional consequences of carrying these SNPs were analyzed. METHODS: The association of TLR4 SNPs, Asp299Gly/Thr399Ile with CVDs occurrence was analyzed using multivariate logistic regression models...
March 15, 2018: AIDS
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