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https://www.readbyqxmd.com/read/29054114/characterization-of-melanosomes-and-melanin-in-japanese-patients-with-hermansky-pudlak-syndrome-types-1-4-6-and-9
#1
Ken Okamura, Yuko Abe, Yuta Araki, Kazumasa Wakamatsu, Mariko Seishima, Takafumi Umetsu, Atsushi Kato, Masakazu Kawaguchi, Masahiro Hayashi, Yutaka Hozumi, Tamio Suzuki
Hermansky-Pudlak syndrome (HPS) is an autosomal recessive disorder characterized by oculocutaneous albinism (OCA), a bleeding tendency and ceroid deposition. Most of the causative genes for HPS encode subunits of the biogenesis of lysosome-related organelles complex (BLOC). In this study, we identified one patient each with HPS4, HPS6 and HPS9 by whole-exome sequencing. Next, we analyzed hair samples from the three patients and representative patients with HPS1 and controls using electron microscopy and chemical methods...
October 20, 2017: Pigment Cell & Melanoma Research
https://www.readbyqxmd.com/read/29051901/fresh-osteochondral-allograft-transplantation-for-spontaneous-osteonecrosis-of-the-knee-a-case-series
#2
Luís E P Tírico, Samuel A Early, Julie C McCauley, William D Bugbee
BACKGROUND: Spontaneous osteonecrosis of the knee (SONK) is a clinical entity identified by acute knee pain usually associated with joint effusion, with radiographic findings of a radiolucent defect on the weightbearing area of the femoral condyle. Conservative treatment is initially undertaken; however, surgical procedures are often necessary. Historically, surgical options have included core decompression, cartilage repair, high tibial osteotomy, or joint arthroplasty. Few studies in the literature have reported the use of fresh osteochondral allograft (OCA) for the treatment of SONK lesions...
October 2017: Orthopaedic Journal of Sports Medicine
https://www.readbyqxmd.com/read/29050284/mutational-analysis-of-a-chinese-family-with-oculocutaneous-albinism-type-2
#3
Xiong Wang, Yaowu Zhu, Na Shen, Jing Peng, Chunyu Wang, Haiyi Liu, Yanjun Lu
Oculocutaneous albinism (OCA) is an autosomal recessive disorder characterized by hypopigmentation of the skin, hair, and eyes accompanied with ophthalmologic abnormalities. Molecular genetic test can confirm the diagnosis of the four subtypes of OCA (OCA1-4). Herein, we report a Chinese family with two patients affected by OCA. Mutations of TYR, OCA2, TYRP1, and SLC45A2 were examined by using PCR-sequencing. Large deletions or duplications of TYR and OCA2 were examined by Multiplex Ligation-dependent Probe Amplification (MLPA) assay...
September 19, 2017: Oncotarget
https://www.readbyqxmd.com/read/29048690/large-fresh-osteochondral-allografts-for-the-hip-growing-the-evidence
#4
Lasun O Oladeji, James L Cook, James P Stannard, Brett D Crist
INTRODUCTION: Articular cartilage lesions of the hip are difficult to effectively treat. Osteochondral allograft (OCA) transplantation in the knee has been associated with long-term success, but OCA for the hip has not been extensively studied. Here, we present the clinical and radiological outcomes from a cohort of 10 patients treated with fresh OCA transplants for large osteochondral defects of the femoral head and/or acetabulum. METHODS: 10 patients who had undergone osteochondral allograft transplantation of the femoral head and/or acetabulum at our institution between 2013 and 2016 were identified from our Institutional Review Board-approved registry...
October 17, 2017: Hip International: the Journal of Clinical and Experimental Research on Hip Pathology and Therapy
https://www.readbyqxmd.com/read/29044980/phenotypic-and-genotypic-profile-of-clinical-and-animal-multi-drug-resistant-salmonella-enterica-isolates-from-mexico
#5
S Aguilar-Montes de Oca, M Talavera-Rojas, E Soriano-Vargas, J Barba-León, J Vázquez-Navarrete, J Acosta-Dibarrat, C Salgado-Miranda
AIMS: The objective of this study was to obtain a phenotypic and genotypic profile of Salmonella enterica including multidrug-resistant isolates from food-producing animals and clinical isolates, as well as their genetic relatedness in two different States of Mexico (Jalisco and State of Mexico). METHODS AND RESULTS: A total of 243 isolates were evaluated in terms of antimicrobial resistance and related genes through a disk diffusion method and PCR respectively; we found sixteen multidrug-resistant isolates, all of them harbouring the blaCMY gene but not qnr genes, these isolates represent less than 10% of the collection...
October 17, 2017: Journal of Applied Microbiology
https://www.readbyqxmd.com/read/29044724/tea-polyphenols-for-the-prevention-of-uvb-induced-skin-cancer
#6
REVIEW
Pooja Sharma, Mary Katherine Montes de Oca, Amena R Alkeswani, Sarah F McClees, Tanushree Das, Craig A Elmets, Farrukh Afaq
Skin cancer is the most common type of cancer with increasing incidence rate and public health burden. Solar Ultraviolet (UV) radiation causes an array of damaging cellular and molecular events that eventually lead to the development of skin cancer. Despite increased awareness about sun protection, the exposure rate remains high with less than 15% of men and 30% of women using sunscreen on a regular basis. Therefore, there is an imperative need for the development of novel preventive approaches. Skin cancer chemoprevention using phytochemicals either as dietary supplements or by topical applications has gained considerable attention due to their low toxicity, availability, and anti-carcinogenic properties...
October 16, 2017: Photodermatology, Photoimmunology & Photomedicine
https://www.readbyqxmd.com/read/29039969/clinical-outcomes-and-failure-rates-of-osteochondral-allograft-transplantation-in-the-knee-a-systematic-review
#7
Filippo Familiari, Mark E Cinque, Jorge Chahla, Jonathan A Godin, Morten Lykke Olesen, Gilbert Moatshe, Robert F LaPrade
BACKGROUND: Cartilage lesions are a significant cause of morbidity and impaired knee function; however, cartilage repair procedures have failed to reproduce native cartilage to date. Thus, osteochondral allograft (OCA) transplantation represents a 1-step procedure to repair large chondral defects without the donor site morbidity of osteochondral autograft transplantation. PURPOSE: To perform a systematic review of clinical outcomes and failure rates after OCA transplantation in the knee at a minimum mean 2 years' follow-up...
October 1, 2017: American Journal of Sports Medicine
https://www.readbyqxmd.com/read/29023915/a-randomized-trial-of-obeticholic-acid-monotherapy-in-patients-with-primary-biliary-cholangitis
#8
Kris V Kowdley, Velimir Luketic, Roger Chapman, Gideon M Hirschfield, Raoul Poupon, Christoph Schramm, Catherine Vincent, Christian Rust, Albert Parés, Andrew Mason, David Shapiro, Luciano Adorini, Cathi Sciacca, Tessa Beecher-Jones, Olaf Böhm, Richard Pencek, David Jones
BACKGROUND: Obeticholic acid (OCA), a potent farnesoid X receptor (FXR) agonist, was studied as monotherapy in an international, randomized, double-blind, placebo-controlled Phase 2 study in patients with primary biliary cholangitis (PBC) who were then reported for up to 6 years. The goals of the study were to assess the benefit of OCA in the absence of UDCA, which is relevant for patients who are intolerant of UDCA and at higher risk of disease progression. METHODS: Patients were randomized and dosed with placebo (n=23), OCA 10-mg (n=20), or OCA 50-mg (n=16) given as monotherapy once daily for 3 months (1 randomized patient withdrew prior to dosing)...
October 10, 2017: Hepatology: Official Journal of the American Association for the Study of Liver Diseases
https://www.readbyqxmd.com/read/29018915/-non-cryoconserving-storage-strategies-for-fresh-osteochondral-allografts
#9
REVIEW
Luisa Marilena Schäck, Jan-Dierk Clausen, Sandra Noack, Afif Harb, Christian Krettek, Claudia Neunaber
BACKGROUND: The clinical outcome of fresh allogeneic osteochondral allografts (OCA) is greatly dependent on the number of viable chondrocytes at the time of implantation. The selection and preparation of a suitable recipient can be very time-consuming and the number of tissue donors is greatly limited; therefore, the preservation of high allograft viability before transplantation is a focal point of current research. OBJECTIVE: The objective of this review is to give an overview of established storage strategies for OCA and to serve as a decision-making aid for German clinics in the choice of a suitable storage strategy...
October 10, 2017: Der Unfallchirurg
https://www.readbyqxmd.com/read/29018889/-oculocutaneous-and-ocular-albinism
#10
REVIEW
A S Kubasch, M Meurer
Albinism can be divided into oculocutaneous albinism (OCA) and ocular albinism (OA). In the differential diagnostics these can be distinguished from rarer syndromes with partial albinism, which are frequently associated with susceptibility to infections and neurological symptoms. The OCA is an autosomal recessive inherited disease of melanin biosynthesis, which leads to complete or partial loss of melanin in the skin, hair follicles and eyes. Of the seven currently known subtypes (OCA 1-7), four are well-characterized (OCA 1-4)...
October 10, 2017: Der Hautarzt; Zeitschrift Für Dermatologie, Venerologie, und Verwandte Gebiete
https://www.readbyqxmd.com/read/28994348/from-pathogenesis-to-novel-therapies-in-the-treatment-of-primary-biliary-cholangitis
#11
Vincenzo Ronca, Marco Carbone, Francesca Bernuzzi, Federica Malinverno, Hani S Mousa, M Eric Gershwin, Pietro Invernizzi
Primary biliary cholangitis (PBC) is an immune-mediated liver disease characterized by chronic inflammation of the intrahepatic bile ducts, causing progressive ductopenia, cholestasis and fibrosis, and leading to liver failure. Ursodeoxycholic acid (UDCA) is the first-line therapy for the treatment of PBC patients. This is effective in majority of patients; however, up to 20 percent of patients have an incomplete response to UDCA therapy and have a reduced prognosis as compared to healthy individuals. Obeticholic acid (OCA) has been recently registered as second-line therapy for patients with incomplete response to UDCA, with plans to demonstrate the long-term clinical efficacy...
October 10, 2017: Expert Review of Clinical Immunology
https://www.readbyqxmd.com/read/28987704/the-role-of-colour-doppler-ultrasonography-of-facial-and-occipital-arteries-in-patients-with-giant-cell-arteritis-a-prospective-study
#12
Rok Ješe, Žiga Rotar, Matija Tomšič, Alojzija Hočevar
OBJECTIVE: Colour Doppler Sonography (CDS) in giant cell arteritis (GCA) allows the study of involvement of cranial arteries other than the temporal arteries, which are inconvenient to biopsy, such as the facial (FaA), and occipital (OcA) arteries. We aimed to estimate the frequency of the FaA, and OcA involvement in GCA; and to explore the clinical characteristics of these subgroups of patients. METHODS: From 1 January 2014 to 31 December 2016 we prospectively performed a CDS of the FaA, and OcA in addition to the temporal (TA), and the extracranial supra-aortic arteries in all newly diagnosed patients suspected of having GCA...
October 2017: European Journal of Radiology
https://www.readbyqxmd.com/read/28987596/computational-discovery-and-experimental-verification-of-farnesoid-x-receptor-agonist-auraptene-to-protect-against-cholestatic-liver-injury
#13
Xiaoguang Gao, Ting Fu, Changyuan Wang, Chenqing Ning, Yulong Kong, Zhihao Liu, Huijun Sun, Xiaodong Ma, Kexin Liu, Qiang Meng
Recently obeticholic acid (OCA) which is a farnesoid X receptor (FXR) agonist was approved by FDA to treat cholestatic liver diseases, which provided us a novel therapeutic strategy against cholestasis. Herein, we used a novel computational strategy with two-dimensional virtual screening for FXR agonists. For the first time, we found that auraptene (AUR), a natural product, can activate FXR to exert hepatoprotective effect against cholestatic liver injury in vivo and in vitro. Importantly, AUR was found to significantly decrease the mortality of cholestatic mice...
October 4, 2017: Biochemical Pharmacology
https://www.readbyqxmd.com/read/28979996/impact-of-myopia-on-corneal-biomechanics-in-glaucoma-and-nonglaucoma-patients
#14
Sunee Chansangpetch, Rawiphan Panpruk, Anita Manassakorn, Visanee Tantisevi, Prin Rojanapongpun, Cameron P Hurst, Shan C Lin
Purpose: We evaluated the impact of myopia on corneal biomechanical properties in primary open-angle glaucoma (POAG) and nonglaucoma patients, and the effect of modification of glaucoma on myopic eyes. Methods: This cross-sectional study included 66 POAG eyes (33 myopia, 33 nonmyopia) and 66 normal eyes (33 myopia, 33 nonmyopia). Seven corneal biomechanical parameters were measured by ultra-high-speed Scheimpflug imaging, including corneal deformation amplitude (CDA), inward/outward corneal applanation length (ICA, OCA), inward/outward corneal velocity (ICV, OCV), radius, and peak distance (PD)...
October 1, 2017: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/28976425/condyle-specific-matching-does-not-improve-midterm-clinical-outcomes-of-osteochondral-allograft-transplantation-in-the-knee
#15
Dean Wang, Kristofer J Jones, Claire D Eliasberg, Mollyann D Pais, Scott A Rodeo, Riley J Williams
BACKGROUND: Condyle-specific matching for osteochondral allograft transplantation (OCA) pairs donor and recipient condyles in an attempt to minimize articular incongruity. While the majority of cartilage defects are located on the medial femoral condyle, lateral femoral condyles are more commonly available as a graft source. The purpose of this study was to compare the clinical outcomes of patients treated with non-orthotopic (lateral-to-medial condyle or medial-to-lateral condyle) OCA with those treated with traditional orthotopic (medial-to-medial condyle or lateral-to-lateral condyle) OCA...
October 4, 2017: Journal of Bone and Joint Surgery. American Volume
https://www.readbyqxmd.com/read/28970500/the-fxr-agonist-obeticholic-acid-suppresses-hcc-proliferation-metastasis-role-of-il-6-stat3-signalling-pathway
#16
Yasmeen M Attia, Rasha A Tawfiq, Aya A Ali, Mohamed M Elmazar
The nuclear receptor, farnesoid X receptor (FXR), has been recently considered as a tumor suppressor in HCC. IL-6/Janus kinase 2 (Jak-2)/signal transducer and activator of transcription 3 (STAT3) pathway has been implicated as a key player in many cancer types. This study aimed at investigating the potential effect of the FXR agonist, obeticholic acid (OCA), on HCC and the involvement of IL-6/STAT3 pathway. The potential regulation of STAT3 by its main feedback inhibitor target gene, the suppressor of cytokine signaling 3 (SOCS3), triggered by OCA was also explored...
October 2, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28949776/beneficial-effects-of-bile-acid-receptor-agonists-in-pulmonary-disease-models
#17
Paolo Comeglio, Annamaria Morelli, Luciano Adorini, Mario Maggi, Linda Vignozzi
Bile acids act as steroid hormones, controlling lipid, glucose and energy metabolism, as well as inflammation and fibrosis. Their actions are implemented through activation of nuclear (FXR, VDR, PXR) and membrane G protein-coupled (TGR5, S1PR2) receptors. Areas covered: This review discusses the potential of FXR and TGR5 as therapeutic targets in the treatment of pulmonary disorders linked to metabolism and/or inflammation. Obeticholic acid (OCA) is the most clinically advanced bile acid-derived agonist for FXR-mediated anti-inflammatory and anti-fibrotic effects...
November 2017: Expert Opinion on Investigational Drugs
https://www.readbyqxmd.com/read/28941861/concurrent-intramedullary-spinal-cord-and-multiple-intracranial-tuberculomas-with-tuberculous-optic-neuritis-a-rare-case-report
#18
Lulup Sahoo, Ashok Kumar Mallick, Geeta Mohanty, Kali Prasanna Swain, Soumyadarshan Nayak, Ashwini Kumar Sahu
Tuberculosis (TB) remains a worldwide burden, with a large majority of new active TB cases occurring in underdeveloped and developing countries. Tuberculous meningitis (TBM) is one of the common infections of central nervous system. Other manifestations include intracranial tuberculoma, tubercular brain abscess, spinal tuberculoma, and granulomatous arachnoiditis. Visual impairment in TBM may be due to optic neuritis, optochiasmatic arachnoiditis (OCA), tuberculoma in the chiasmatic region or in the optic pathways, chorioretinitis, secondary to hydrocephalus and increased intracranial pressure, and finally due to ethambutol toxicity...
October 2017: Indian Journal of Tuberculosis
https://www.readbyqxmd.com/read/28937783/validation-of-the-missouri-osteochondral-allograft-preservation-system-for-the-maintenance-of-osteochondral-allograft-quality-during-prolonged-storage
#19
Aaron M Stoker, James P Stannard, Keiichi Kuroki, Chantelle C Bozynski, Ferris M Pfeiffer, James L Cook
BACKGROUND: Fresh osteochondral allografts (OCAs) are limited in availability. The Missouri Osteochondral Allograft Preservation System (MOPS) has been reported to effectively preserve OCAs twice as long as current tissue bank protocols in preclinical studies. HYPOTHESIS: The viable chondrocyte density (VCD) in OCAs preserved for up to 70 days using the MOPS will not be significantly different from day 0, and the VCD in MOPS-preserved OCAs will be significantly higher than for standard tissue bank preservation...
September 1, 2017: American Journal of Sports Medicine
https://www.readbyqxmd.com/read/28936581/exploring-methods-for-comparing-the-real-world-effectiveness-of-treatments-for-osteoporosis-adjusted-direct-comparisons-versus-using-patients-as-their-own-control
#20
Linda Karlsson, Johan Mesterton, Maurille Feudjo Tepie, Michele Intorcia, Jetty Overbeek, Oskar Ström
Using Swedish and Dutch registry data for women initiating bisphosphonates, we evaluated two methods of comparing the real-world effectiveness of osteoporosis treatments that attempt to adjust for differences in patient baseline characteristics. Each method has advantages and disadvantages; both are potential complements to clinical trial analyses. PURPOSE: We evaluated methods of comparing the real-world effectiveness of osteoporosis treatments that attempt to adjust for both observed and unobserved confounding...
September 21, 2017: Archives of Osteoporosis
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