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https://www.readbyqxmd.com/read/27906199/microduplication-of-the-arid1a-gene-causes-intellectual-disability-with-recognizable-syndromic-features
#1
Marie Bidart, Michèle El Atifi, Sarra Miladi, John Rendu, Véronique Satre, Pierre F Ray, Caroline Bosson, Françoise Devillard, Daphné Lehalle, Valérie Malan, Jeanne Amiel, Maria Antonietta Mencarelli, Margherita Baldassarri, Alessandra Renieri, Jill Clayton-Smith, Gaëlle Vieville, Julien Thevenon, Florence Amblard, François Berger, Pierre-Simon Jouk, Charles Coutton
PURPOSE: To determine whether duplication of the ARID1A gene is responsible for a new recognizable syndrome. METHODS: We describe four patients with a 1p36.11 microduplication involving ARID1A as identified by array-comparative genomic hybridization . We performed comparative transcriptomic analysis of patient-derived fibroblasts using RNA sequencing and evaluated the impact of ARID1A duplication on the cell cycle using fluorescence-activated cell sorting. Functional relationships between differentially expressed genes were investigated with ingenuity pathway analysis (IPA)...
December 1, 2016: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/27906110/failed-upregulation-of-tfam-protein-and-mitochondrial-dna-in-oxidatively-deficient-fibers-of-chronic-obstructive-pulmonary-disease-locomotor-muscle
#2
Yana Konokhova, Sally Spendiff, R Thomas Jagoe, Sudhakar Aare, Sophia Kapchinsky, Norah J MacMillan, Paul Rozakis, Martin Picard, Mylène Aubertin-Leheudre, Charlotte H Pion, Jean Bourbeau, Russell T Hepple, Tanja Taivassalo
BACKGROUND: Low mitochondrial content and oxidative capacity are well-established features of locomotor muscle dysfunction, a prevalent and debilitating systemic occurrence in patients with chronic obstructive pulmonary disease (COPD). Although the exact cause is not firmly established, physical inactivity and oxidative stress are among the proposed underlying mechanisms. Here, we assess the impact of COPD pathophysiology on mitochondrial DNA (mtDNA) integrity, biogenesis, and cellular oxidative capacity in locomotor muscle of COPD patients and healthy controls...
February 18, 2016: Skeletal Muscle
https://www.readbyqxmd.com/read/27906101/characterization-of-a-dmd-egfp-reporter-mouse-as-a-tool-to-investigate-dystrophin-expression
#3
Mina V Petkova, Susanne Morales-Gonzales, Karima Relizani, Esther Gill, Franziska Seifert, Josefine Radke, Werner Stenzel, Luis Garcia, Helge Amthor, Markus Schuelke
BACKGROUND: Dystrophin is a rod-shaped cytoplasmic protein that provides sarcolemmal stability as a structural link between the cytoskeleton and the extracellular matrix via the dystrophin-associated protein complex (DAPC). Mutations in the dystrophin-encoding DMD gene cause X-linked dystrophinopathies with variable phenotypes, the most severe being Duchenne muscular dystrophy (DMD) characterized by progressive muscle wasting and fibrosis. However, dystrophin deficiency does not only impair the function of skeletal and heart muscle but may also affect other organ systems such as the brain, eye, and gastrointestinal tract...
July 5, 2016: Skeletal Muscle
https://www.readbyqxmd.com/read/27906067/aspartylglycosaminuria-a-review
#4
REVIEW
Maria Arvio, Ilkka Mononen
Aspartylglucosaminuria (AGU), a recessively inherited lysosomal storage disease, is the most common disorder of glycoprotein degradation with a high prevalence in the Finnish population. It is a lifelong condition affecting on the patient's appearance, cognition, adaptive skills, physical growth, personality, body structure, and health. An infantile growth spurt and development of macrocephalia associated to hernias and respiratory infections are the key signs to an early identification of AGU. Progressive intellectual and physical disability is the main symptom leading to death usually before the age of 50 years...
December 1, 2016: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/27906035/extracellular-vesicles-in-the-pathogenesis-of-rheumatoid-arthritis-and-osteoarthritis
#5
REVIEW
Joseph Withrow, Cameron Murphy, Yutao Liu, Monte Hunter, Sadanand Fulzele, Mark W Hamrick
Osteoarthritis (OA) and rheumatoid arthritis (RA) are both debilitating diseases that cause significant morbidity in the US population. Extracellular vesicles (EVs), including exosomes and microvesicles, are now recognized to play important roles in cell-to-cell communication by transporting various proteins, microRNAs (miRNAs), and mRNAs. EV-derived proteins and miRNAs impact cell viability and cell differentiation, and are likely to play a prominent role in the pathophysiology of both OA and RA. Some of the processes by which these membrane-bound vesicles can alter joint tissue include extracellular matrix degradation, cell-to-cell communication, modulation of inflammation, angiogenesis, and antigen presentation...
December 1, 2016: Arthritis Research & Therapy
https://www.readbyqxmd.com/read/27905294/glucocorticoids-increase-skeletal-muscle-nf-%C3%AE%C2%BAb-inducing-kinase-nik-links-to-muscle-atrophy
#6
Christopher S Fry, Syed Z Nayeem, Edgar L Dillon, Partha S Sarkar, Batbayar Tumurbaatar, Randall J Urban, Traver J Wright, Melinda Sheffield-Moore, Ronald G Tilton, Sanjeev Choudhary
Glucocorticoids (GC) are a frontline therapy for numerous acute and chronic diseases because of their demonstrated efficacy at reducing systemic inflammation. An unintended side effect of GC therapy is the stimulation of skeletal muscle atrophy. Pathophysiological mechanisms responsible for GC-induced skeletal muscle atrophy have been extensively investigated, and the ability to treat patients with GC without unintended muscle atrophy has yet to be realized. We have reported that a single, standard-of-care dose of Methylprednisolone increases in vivo expression of NF-κB-inducing kinase (NIK), an important upstream regulatory kinase controlling NF-κB activation, along with other key muscle catabolic regulators such as Atrogin-1 and MuRF1 that induce skeletal muscle proteolysis...
November 2016: Physiological Reports
https://www.readbyqxmd.com/read/27905186/severe-asthma-current-management-targeted-therapies-and-future-directions-a-roundtable-report
#7
REVIEW
Vanessa M McDonald, Steven Maltby, Helen K Reddel, Gregory G King, Peter A B Wark, Lorraine Smith, John W Upham, Alan L James, Guy B Marks, Peter G Gibson
Asthma is a chronic respiratory disease characterized by respiratory symptoms, airway inflammation, airway obstruction and airway hyper-responsiveness. Asthma is common and directly affects 10% of Australians, 1-5% of adults in Asia and 300 million people worldwide. It is a heterogeneous disorder with many clinical, molecular, biological and pathophysiological phenotypes. Current management strategies successfully treat the majority of patients with asthma who have access to them. However, there is a subset of an estimated 5-10% of patients with asthma who have severe disease and are disproportionately impacted by symptoms, exacerbations and overall illness burden...
November 30, 2016: Respirology: Official Journal of the Asian Pacific Society of Respirology
https://www.readbyqxmd.com/read/27905098/are-neutrophilic-dermatoses-autoinflammatory-disorders
#8
REVIEW
T K Satoh, M Mellett, E Contassot, L E French
Neutrophils constitute essential players in inflammatory responses and are the first line of defence against harmful stimuli. However, dysregulation of neutrophil homeostasis can result in excessive inflammation and subsequent tissue damage. Neutrophilic dermatoses are a spectrum of inflammatory disorders characterized by skin lesions resulting from a neutrophil-rich inflammatory infiltrate in the absence of infection. The exact molecular pathophysiology of neutrophilic dermatoses has long been poorly understood...
November 30, 2016: British Journal of Dermatology
https://www.readbyqxmd.com/read/27905085/erratum-to-treating-the-underlying-pathophysiology-of-primary-sj%C3%A3-gren-syndrome-recent-advances-and-future-prospects
#9
Pilar Brito-Zerón, Soledad Retamozo, Hoda Gheitasi, Manuel Ramos-Casals
No abstract text is available yet for this article.
November 30, 2016: Drugs
https://www.readbyqxmd.com/read/27905012/microbial-proteins-as-novel-industrial-biotechnology-hosts-to-treat-epilepsy
#10
REVIEW
Zareen Amtul, Amal A Aziz
Epilepsy is characterized by the hyperexcitability of various neuronal circuits that results due to the imbalance between glutamate-mediated excitation of voltage-gated cation channels and γ-amino butyric acid (GABA)-mediated inhibition of anion channels leading to aberrant, sporadic oscillations or fluctuations in neuronal electrical activity. Epilepsy with a risk of mortality and around 65 million sufferers of all ages all over the world is limited therapeutically with high rates of adverse reactions, lack of complete seizure control, and over 30% patients with refractory epilepsy...
December 1, 2016: Molecular Neurobiology
https://www.readbyqxmd.com/read/27904997/pleiotrophin-the-angiogenic-and-mitogenic-growth-factor-levels-in-serum-and-synovial-fluid-in-rheumatoid-arthritis-and-osteoarthritis-and-correlation-with-clinical-laboratory-and-radiological-indices
#11
S M H Fadda, I H Bassyouni, R H Khalifa, N Y Elsaid
BACKGROUND: Few studies have reported a possible involvement of pleiotrophin (PTN) in the pathophysiology of osteoarthritis (OA) and very little is known about its role in rheumatoid arthritis (RA). This study is to measure PTN in the sera and synovial fluids in RA and OA and to assess its relation to activity, functional class and radiological staging. SUBJECTS AND METHODS: Serum and synovial fluid samples were collected from 35 RA patients and 40 knee OA patients and serum samples were withdrawn from 20 healthy controls...
November 30, 2016: Zeitschrift Für Rheumatologie
https://www.readbyqxmd.com/read/27904960/active-and-passive-involvement-of-claudins-in-the-pathophysiology-of-intestinal-inflammatory-diseases
#12
REVIEW
Christian Barmeyer, Michael Fromm, Jörg-Dieter Schulzke
Intestinal inflammatory diseases, four of which are discussed here, are associated with alterations of claudins. In ulcerative colitis, diarrhea and antigen entry into the mucosa occurs. Claudin-2 is upregulated but data on other claudins are still limited or vary (e.g., claudin-1 and -4). Apart from that, tight junction changes contribute to diarrhea via a leak flux mechanism, while protection against antigen entry disappears behind epithelial gross lesions (erosions) and apoptotic foci. Crohn's disease is additionally characterized by a claudin-5 and claudin-8 reduction which plays an active role in antigen uptake already before gross lesions appear...
November 30, 2016: Pflügers Archiv: European Journal of Physiology
https://www.readbyqxmd.com/read/27904865/giant-true-brachial-artery-aneurysm-after-hemodialysis-fistula-closure-in-a-renal-transplant-patient
#13
Doriana Ferrara, Michele Di Filippo, Flavia Spalla, Anna Maria Giribono, Emanuela Viviani, Annamaria Santagata, Umberto Bracale, Michele Santangelo, Luca Del Guercio, Umberto Marcello Bracale
The usual manifestation of brachial artery aneurysms is the incidental finding of a swelling of the arm, combined with paresthesia or pain in some cases. The etiology is often traumatic or secondary to drug abuse. Pathophysiology of brachial artery dilation in these cases is not completely clear. We herein describe a case of a 61-year-old male presenting with a giant, painful, pulsatile mass on his left arm. He was submitted to a cadaveric kidney transplant in 2005. He had a functioning arteriovenous fistula (AVF) on his right arm, and a spontaneously thrombosed radiocephalic AVF on his left arm...
September 2016: Case Reports in Nephrology and Dialysis
https://www.readbyqxmd.com/read/27904821/auditory-brainstem-response-and-late-latency-response-in-individuals-with-tinnitus-having-normal-hearing
#14
Sreeraj Konadath, Puttabasappa Manjula
Tinnitus is a commonly encountered complaint in routine audiology practice. The pathophysiology and exact generation site of tinnitus is not precisely established. Auditory brainstem response (ABR) and late latency response (LLR) findings in individuals with tinnitus show mixed results in the literature. Majority of studies have focused on individuals having tinnitus with peripheral hearing loss. The present study explores ABR and LLR characteristics among tinnitus patients with normal audiometric presentation; with no direct indication of any cochlear lesion...
November 2016: Intractable & Rare Diseases Research
https://www.readbyqxmd.com/read/27904475/transforming-growth-factor-beta-1-a-cytokine-with-regenerative-functions
#15
REVIEW
Wale Sulaiman, Doan H Nguyen
We review the biology and role of transforming growth factor beta 1 (TGF-β1) in peripheral nerve injury and regeneration, as it relates to injuries to large nerve trunks (i.e., sciatic nerve, brachial plexus), which often leads to suboptimal functional recovery. Experimental studies have suggested that the reason for the lack of functional recovery resides in the lack of sufficient mature axons reaching their targets, which is a result of the loss of the growth-supportive environment provided by the Schwann cells in the distal stump of injured nerves...
October 2016: Neural Regeneration Research
https://www.readbyqxmd.com/read/27904243/a-systematic-approach-to-patients-with-jaundice
#16
REVIEW
Bilal Gondal, Andrew Aronsohn
Jaundice is a clinical manifestation of disorders of underlying bilirubin metabolism, hepatocellular dysfunction, or biliary obstruction. As clinical presentations of yellowing of eyes or skin can be somewhat nonspecific for the underlying etiology of disease, a stepwise approach to evaluation is necessary for accurate diagnosis and effective treatment plan. In this review, we discuss underlying mechanisms of cholestasis and jaundice as well as laboratory and imaging modalities needed to evaluate a patient presenting with hyperbilirubinemia...
December 2016: Seminars in Interventional Radiology
https://www.readbyqxmd.com/read/27904154/circadian-rhythm-of-blood-pressure-and-the-renin-angiotensin-system-in-the-kidney
#17
REVIEW
Naro Ohashi, Shinsuke Isobe, Sayaka Ishigaki, Hideo Yasuda
Activation of the intrarenal renin-angiotensin system (RAS) has a critical role in the pathophysiology of the circadian rhythm of blood pressure (BP) and renal injury, independent of circulating RAS. Although it is clear that the circulating RAS has a circadian rhythm, reports of a circadian rhythm in tissue-specific RAS are limited. Clinical studies evaluating intrarenal RAS activity by urinary angiotensinogen (AGT) levels have indicated that urinary AGT levels were equally low during both the daytime and nighttime in individuals without chronic kidney disease (CKD) and that urinary AGT levels were higher during the daytime than at nighttime in patients with CKD...
December 1, 2016: Hypertension Research: Official Journal of the Japanese Society of Hypertension
https://www.readbyqxmd.com/read/27904096/development-and-analysis-of-novel-therapeutic-targets-to-improve-pancreatic-%C3%AE-cell-function-in-type-2-diabetes
#18
Yukiko K Kaneko
 Pancreatic β-cell dysfunction is a major feature of type 2 diabetes. Therefore maintenance of β-cell function is essential to preventing the onset and progression of type 2 diabetes. To elucidate the mechanisms underlying the regulation of insulin secretion and β-cell survival, we particularly focused on the roles of gasotransmitters in pancreatic β-cells. Nitric oxide (NO) and hydrogen sulfide (H2S) are recognized as toxic gases. However, they are also vital physiological and pathophysiological mediators in various cell types...
2016: Yakugaku Zasshi: Journal of the Pharmaceutical Society of Japan
https://www.readbyqxmd.com/read/27904041/fatty-acid-%C3%AE-oxidation-plays-a-key-role-in-regulating-cis-palmitoleic-acid-levels-in-the-liver
#19
Kohei Kawabata, Minako Karahashi, Takeshi Sakamoto, Yukiho Tsuji, Tohru Yamazaki, Mari Okazaki, Atsushi Mitsumoto, Naomi Kudo, Yoichi Kawashima
Different monounsaturated fatty acid (MUFA) species have distinct pathophysiological activities. cis-Palmitoleic acid (16:1n-7) was previously reported to improve insulin sensitivity in animal studies. The proportions of hepatic MUFAs are generally considered to reflect changes in the activities of fatty acid modifications (∆9 desaturation and fatty acid elongation). However, hepatic levels of 16:1n-7 are markedly lower than those of oleic acid (18:1n-9). Nevertheless, no convincing explanation has yet been provided for the low level of 16:1n-7...
2016: Biological & Pharmaceutical Bulletin
https://www.readbyqxmd.com/read/27904018/impact-of-plasma-kynurenine-level-on-functional-capacity-and-outcome-in-heart-failure%C3%A3-results-from-studies-investigating-co-morbidities-aggravating-heart-failure-sica-hf
#20
Masaaki Konishi, Nicole Ebner, Jochen Springer, Joerg C Schefold, Wolfram Doehner, Thomas Bernd Dschietzig, Stefan D Anker, Stephan von Haehling
BACKGROUND: Kynurenine is a circulating metabolite from the essential amino acid tryptophan. Accelerated degradation of kynurenine in skeletal muscle has been reported to provide an anti-inflammatory effect. The aim of this study was to investigate the association between blood kynurenine and muscle mass/function in patients with heart failure (HF), in whom diseased muscle mass/function plays a pathophysiological role.Methods and Results:Plasma kynurenine was assessed in 249 patients with HF (67±11 years, 21% women) and in 45 controls from the SICA-HF study...
November 30, 2016: Circulation Journal: Official Journal of the Japanese Circulation Society
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