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Degenerative diseases

Maurizio Battaglia Parodi, Alessandro Arrigo, Robert E MacLaren, Emanuela Aragona, Lisa Toto, Rodolfo Mastropasqua, Maria Pia Manitto, Francesco Bandello
PURPOSE: Choroideremia is a rare degenerative retinal disease that causes incurable blindness. It occurs as a result of the deficiency of the X-linked CHM gene, which encodes the Rab escort protein 1 (REP1). Gene therapy has been developed to treat CHM using adeno-associated viral vectors and is currently undergoing clinical trials. Expression of the CHM gene is ubiquitous throughout the retina, and it is therefore important to identify which retinal layers are affected in the disease process...
March 14, 2018: Retina
Amit Shivajirao Waghmare, Shivaji Sandu Pandit, Dayanand M Suryawanshi
AIM AND OBJECTIVE: 4H-pyran is one of the most well-known groups of synthetic heterocyclic compounds and it has attracted considerable attention of chemists in recent years because of their extensive range of biological and pharmaceutical activities. These compounds are used as antibacterial, anticancer agents, anti-coagulants, spasmolytics and anti-anaphylactic. 4H-pyran derivatives are utilized in cosmetics, pigments, biodegradable agrochemicals as well as photoactive materials. In addition, 4H-pyrans are also helpful as cognitive enhancers for the treatment of neuro degenerative diseases, including Alzheimer's disease, as well as for the treatment of schizophrenia and myoclonus...
March 14, 2018: Combinatorial Chemistry & High Throughput Screening
Jack Zigler, Nicole Ferko, Chris Cameron, Leena Patel
AIM: To compare the efficacy and safety of total disc replacement, lumbar fusion, and conservative care in the treatment of single-level lumbar degenerative disc disease (DDD). MATERIALS & METHODS: A network meta-analysis was conducted to determine the relative impact of lumbar DDD therapies on Oswestry Disability Index (ODI) success, back pain score, patient satisfaction, employment status, and reoperation. Odds ratios or mean differences and 95% credible intervals were reported...
March 2018: Journal of Comparative Effectiveness Research
Rehan M Hussain, Ninel Z Gregori, Thomas A Ciulla, Byron L Lam
Pharmacotherapy with visual cycle modulators (VCMs) is under investigation for retinitis pigmentosa (RP), Leber congenital amaurosis (LCA), Stargardt macular dystrophy (SMD) and nonexudative age-related macular degeneration (AMD), all blinding diseases that lack effective treatment options. Areas covered: The authors review investigational VCMs, including oral retinoids, 9-cis-retinyl-acetate (zuretinol) and 9-cis-β-carotene, which restore 11-cis-retinal levels in RP and LCA caused by LRAT and RPE65 gene mutations, and may improve visual acuity and visual fields...
March 15, 2018: Expert Opinion on Pharmacotherapy
Thomas George Back, Kai N Sands, Tyler A Tuck
Selenium compounds play an important role in redox homeostasis in living organisms. One of their major functions is to suppress the harmful effects of hydrogen peroxide, hydroperoxides and downstream reactive oxygen species that lead to oxidative stress, which has in turn been implicated in many diseases and degenerative conditions. The glutathione peroxidase (GPx) family of selenoenzymes plays a key protective role by catalyzing the reduction of peroxides with glutathione. Considerable effort has been expended toward the discovery of small-molecule selenium compounds that mimic GPx...
March 14, 2018: Chemistry: a European Journal
Sara Guerri, Daniele Mercatelli, Maria Pilar Aparisi Gómez, Alessandro Napoli, Giuseppe Battista, Giuseppe Guglielmi, Alberto Bazzocchi
Bone and muscle are two deeply interconnected organs and a strong relationship between them exists in their development and maintenance. The peak of both bone and muscle mass is achieved in early adulthood, followed by a progressive decline after the age of 40. The increase in life expectancy in developed countries resulted in an increase of degenerative diseases affecting the musculoskeletal system. Osteoporosis and sarcopenia represent a major cause of morbidity and mortality in the elderly population and are associated with a significant increase in healthcare costs...
February 2018: Quantitative Imaging in Medicine and Surgery
Nader Nassiri, Farhad Assarzadegan, Mansoor Shahriari, Hamid Norouzi, Sara Kavousnezhad, Nariman Nassiri, Kourosh Sheibani
Introduction: Neurotrophic keratitis is a rare degenerative corneal disease caused by an impairment of trigeminal corneal innervation, leading to a decrease or absence of corneal sensation. Here, we present a case of neurotrophic keratopathy caused by B12 deficiency in a 34 years old man who had a progressive decrease in visual acuity and corneal involvement since 3 months before being referred to our ophthalmology clinic. Result and Discussion: Based on our clinical findings and with the diagnosis of B12 deficiency we started B12 treatment for the patient...
2018: Open Ophthalmology Journal
Yingqian Peng, Edouard Baulier, Yifeng Ke, Alejandra Young, Novruz B Ahmedli, Steven D Schwartz, Debora B Farber
Extracellular vesicles (EVs) released by virtually every cell of all organisms are involved in processes of intercellular communication through the delivery of their functional mRNAs, proteins and bioactive lipids. We previously demonstrated that mouse embryonic stem cell-released EVs (mESEVs) are able to transfer their content to different target retinal cells, inducing morphological and biochemical changes in them. The main objective of this paper is to characterize EVs derived from human embryonic stem cells (hESEVs) and investigate the effects that they have on cultured retinal glial, progenitor Müller cells, which are known to give rise to retinal neurons under specific conditions...
2018: PloS One
Cordula Netzer, Pascal Distel, Uwe Wolfram, Hans Deyhle, Gregory F Jost, Stefan Schären, Jeroen Geurts
Facet joint osteoarthritis is a prominent feature of degenerative spine disorders, highly prevalent in ageing populations, and considered a major cause for chronic lower back pain. Since there is no targeted pharmacological therapy, clinical management of disease includes analgesic or surgical treatment. The specific cellular, molecular, and structural changes underpinning facet joint osteoarthritis remain largely elusive. The aim of this study was to determine osteoarthritis-related structural alterations in cortical and trabecular subchondral bone compartments...
March 14, 2018: International Journal of Molecular Sciences
Elizabeth Delve, Justin Parreno, Vivian Co, Po-Han Wu, Jasmine Chong, Matteo Di Scipio, Rita A Kandel
Osteoarthritis (OA) is a degenerative disease that initially manifests as loss of the superficial zone (SZ) of articular cartilage. SZ chondrocytes (SZC) differ in morphology from other chondrocytes as they are elongated and oriented parallel to the tissue surface. Proteoglycan 4 (PRG4) and tenascin C (TNC) are molecules expressed by SZC, which have been shown to be chondroprotective. Identification of the signalling pathway(s) regulating expression of SZ molecules may lead to a therapeutic target that can be used to delay or prevent the onset of OA...
March 14, 2018: Journal of Orthopaedic Research: Official Publication of the Orthopaedic Research Society
Dominique J Griffon, Ayman A Mostafa, Laurent Blond, David J Schaeffer
OBJECTIVE: To characterize radioulnar incongruence (RUI) in large dogs with medial coronoid disease (MCD) and determine the agreement between radiography, computed tomography (CT), and arthroscopy. STUDY DESIGN: Prospective observational case series. ANIMALS: Twenty-four large-breed dogs under 3 years of age with confirmed MCD. METHODS: MCD and incongruence were evaluated by radiographs and CT. RUI was measured along the ulnar commissure, mid-body, and apex of the medial coronoid process (MCP) by CT and arthroscopy...
March 13, 2018: Veterinary Surgery: VS
Elizabeth Regina Carvalho, Roberto Andrés Navarrete Ampuero, Giovana Laís Ruviaro Tuleski, Aparecido Antonio Camacho, Marlos Gonçalves Sousa
Ventricular arrhythmias (VA) are a recognized concern in dogs with degenerative mitral valve disease (DMVD). The coupling interval (CI) and the prematurity index (PI) have been shown to accurately differentiate between benign and malignant VA in people, where ventricular arrhythmias are known to be associated with an increased risk of development of signs of heart failure or sudden death. In this study, we characterized ventricular arrhythmias in dogs with symptomatic and asymptomatic DMVD. Seventy dogs with naturally-occurring DMVD and ventricular arrhythmias were retrospectively studied...
March 13, 2018: Veterinary Research Communications
Andrew T Koogler, Michael Kushelev
A 76-year-old male presented for reverse total shoulder arthroplasty (TSA) in the beach chair position. A preoperative interscalene nerve catheter was placed under direct ultrasound-guidance utilizing a posterior in-plane approach. On POD 2, the catheter was removed. Three weeks postoperatively, the patient reported worsening dyspnea with a subsequent chest X-ray demonstrating an elevated right hemidiaphragm. Pulmonary function testing revealed worsening deficit from presurgical values consistent with phrenic nerve palsy...
2018: Case Reports in Anesthesiology
Izabela Wróblewska, Iwona Zborowska, Anna Dąbek, Robert Susło, Zuzanna Wróblewska, Jarosław Drobnik
Background: The incidence of chronic diseases increases with age; about 73% of people who are aged ≥60 years suffer from at least 1 chronic disease, and among those older than 70 years, chronic diseases afflict more than >84% of the population. According to epidemiological data, at least 4 chronic disease types coexist in senior citizens, causing their disability. These are mainly cardiovascular diseases; motor system diseases; ophthalmological, auditory, neurological, and mental diseases; and mental impairment...
2018: Clinical Interventions in Aging
Zhi Ruan, Hui Ma, Jing Li, Huiyong Liu, Haoruo Jia, Feng Li
Intervertebral disc degeneration is a complex disease involving genetic and environmental factors and multiple cellular processes. The role and expression of the lncRNA NEAT1 were assessed in intervertebral disc degeneration. NEAT1 expression was assessed in degenerative and control nucleus pulposus using RT-PCR. Western blotting and RT-PCR were also used to investigate p53 and p21 levels in nucleus pulposus tissues. NEAT1 function in degenerative nucleus pulposus cells was assessed with gain- and loss-of-function experiments...
January 1, 2018: Experimental Biology and Medicine
Adriana Hernández, Adriana Beatriz Di Iorio, Jeffrey Lansdale, María Belén Salazar
Sweeteners are found in all types of foods, and their high consumption is associated with chronic degenerative diseases, such as diabetes and obesity, among others. A characterization was carried out of food products with sweeteners from the three biggest supermarkets at a national level; they were identified by the list of ingredients and classified according to caloric or non-caloric intake, and pursuant to their country of origin. A statistical interpretation of results was made using descriptive measures such as the number of times the sweeteners were found in the formulation of the products and how many of them were found in a product at the same time...
March 11, 2018: Nutrients
Santa Mammana, Paolo Fagone, Eugenio Cavalli, Maria Sofia Basile, Maria Cristina Petralia, Ferdinando Nicoletti, Placido Bramanti, Emanuela Mazzon
In physiological conditions, different types of macrophages can be found within the central nervous system (CNS), i.e., microglia, meningeal macrophages, and perivascular (blood-brain barrier) and choroid plexus (blood-cerebrospinal fluid barrier) macrophages. Microglia and tissue-resident macrophages, as well as blood-borne monocytes, have different origins, as the former derive from yolk sac erythromyeloid precursors and the latter from the fetal liver or bone marrow. Accordingly, specific phenotypic patterns characterize each population...
March 13, 2018: International Journal of Molecular Sciences
Chandrakanth Reddy Edamakanti, Jeehaeh Do, Alessandro Didonna, Marco Martina, Puneet Opal
Spinocerebellar ataxia type 1 (SCA1) is an adult-onset neurodegenerative disease caused by a polyglutamine expansion in the protein ATXN1, which is involved in transcriptional regulation. Although symptoms appear relatively late in life, primarily from cerebellar dysfunction, pathogenesis begins early, with brain-wide transcriptional changes detectable as early as a week after birth in SCA1 knock-in mice. Given the importance of this postnatal period for cerebellar development, we asked whether this region might be developmentally altered by mutant ATXN1...
March 13, 2018: Journal of Clinical Investigation
Sahra Gibbon, Waleska Aureliano
Within the context of a globalising agenda for genetic research where 'global health' is increasingly seen as necessarily informed by and having to account for genomics, the focus on rare genetic diseases is becoming prominent. Drawing from ethnographic research carried out separately by both authors in Brazil, this paper examines how an emerging focus on two different arenas of rare genetic disease, cancer genetics and a class of degenerative neurological diseases known as Ataxias, is subject to and a product of the dynamics of inclusion and exclusion as this concerns participation in research and access to health care...
April 2018: Anthropology & Medicine
S D Sprengel, B Klaan, L Kintzele
BACKGROUND: Inflammatory changes of the foot are comparatively rare and can be a challenge for radiologists with respect to the differential diagnosis, especially in cases with pre-existing degenerative changes of the foot skeleton. Comprehensive anamnesis and the use of contrast-enhanced MRI diagnostics are therefore often essential for diagnosis. OBJECTIVES: This review provides a cursory overview of the morphological characteristics of inflammatory changes of the foot and their differential diagnoses with a focus on osteomyelitis, joint infections, rheumatological diseases and tenosynovitis...
March 12, 2018: Der Radiologe
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