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Connective tissue disease

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https://www.readbyqxmd.com/read/29346445/transcriptome-analysis-of-skin-fibroblasts-with-dominant-negative-col3a1-mutations-provides-molecular-insights-into-the-etiopathology-of-vascular-ehlers-danlos-syndrome
#1
Nicola Chiarelli, Giulia Carini, Nicoletta Zoppi, Marco Ritelli, Marina Colombi
Vascular Ehlers-Danlos syndrome (vEDS) is a dominantly inherited connective tissue disorder caused by mutations in the COL3A1 gene that encodes type III collagen (COLLIII), which is the major expressed collagen in blood vessels and hollow organs. The majority of disease-causing variants in COL3A1 are glycine substitutions and in-frame splice mutations in the triple helix domain that through a dominant negative effect are associated with the severe clinical spectrum potentially lethal of vEDS, characterized by fragility of soft connective tissues with arterial and organ ruptures...
2018: PloS One
https://www.readbyqxmd.com/read/29344854/laser-microdissection-workflow-for-isolating-nucleic-acids-from-fixed-and-frozen-tissue-samples
#2
Yelena G Golubeva, Andrew C Warner
Laser Capture Microdissection has earned a permanent place among modern techniques connecting histology and molecular biology. Laser Capture Microdissection has become an invaluable tool in medical research as a means for collection of specific cell populations isolated from their environment. Such genomic sample enrichment dramatically increases the sensitivity and precision of downstream molecular assays used for biomarker discovery, monitoring disease onset and progression, and in the development of personalized medicine...
2018: Methods in Molecular Biology
https://www.readbyqxmd.com/read/29342499/efficacy-and-safety-of-cyclophosphamide-treatment-in-severe-juvenile-dermatomyositis-shown-by-marginal-structural-modelling
#3
Claire T Deakin, Raquel Campanilho-Marques, Stefania Simou, Elena Moraitis, Lucy R Wedderburn, Eleanor Pullenayegum, Clarissa A Pilkington
OBJECTIVE: In patients with severe or refractory juvenile dermatomyositis (JDM), second-line treatments may be required. Cyclophosphamide (CYC) is used to treat some connective tissue diseases, but evidence of efficacy in JDM is limited. This study aimed to describe clinical improvement in JDM patients treated with CYC and model efficacy of CYC compared to patients not treated with CYC. METHODS: Clinical data on skin, global and muscle disease were analyzed from patients recruited to the Juvenile Dermatomyositis Cohort and Biomarker Study...
January 17, 2018: Arthritis & Rheumatology
https://www.readbyqxmd.com/read/29341947/spontaneous-direct-carotid-cavernous-fistula-in-an-elderly-patient
#4
Stanimir S Sirakov, Borislav D Kitov, Kristina S Sirakova, Ivo I Kehayov
We describe the case of an 83-year-old woman with left-sided ophthalmoplegia. She had no family history of connective tissue disease. The computed tomography study found a dilated left cavernous sinus. The conventional cerebral panangiography confirmed the diagnosis - a direct carotid-cavernous fistula (CCF), with no evidence of ruptured aneurysm. The woman underwent endovascular treatment with coiling of the cavernous sinus in combination with application of the Onyx embolic agent in the fistula. During the first 48 hours after the embolization the local pain, exophthalmos and conjunctival injection of the left eye were significantly ameliorated...
December 20, 2017: Folia Medica
https://www.readbyqxmd.com/read/29341890/periodontal-diseases-and-adverse-pregnancy-outcomes-is-there-a-role-for-vitamin-d
#5
REVIEW
Anne Marie Uwitonze, Peace Uwambaye, Moses Isyagi, Chrispinus H Mumena, Alice Hudder, Afrozul Haq, Kamrun Nessa, Mohammed S Razzaque
Studies have shown a relationship between maternal periodontal diseases (PDs) and premature delivery. PDs are commonly encountered oral diseases which cause progressive damage to the periodontal ligament and alveolar bones, leading to loss of teeth and oral disabilities. PDs also adversely affect general health by worsening cardiovascular and metabolic diseases. Moreover, maternal PDs are thought to be related to increasing the frequency of preterm-birth with low birth weight (PBLBW) new-borns. Prematurity and immaturity are the leading causes of prenatal and infant mortality and is a major public health problem around the world...
January 13, 2018: Journal of Steroid Biochemistry and Molecular Biology
https://www.readbyqxmd.com/read/29341864/comparison-of-acute-kidney-injury-of-different-aetiology-reveals-in-common-mechanisms-of-tissue-damage
#6
Michael Hultström, Mediha Becirovic-Agic, Sofia Jönsson
Acute kidney injury (AKI) is a syndrome of reduced glomerular filtration rate (GFR) and urine production caused by a number of different diseases. It is associated with renal tissue damage. This tissue damage can cause tubular atrophy and interstitial fibrosis that leads to nephron loss and progression of chronic kidney disease (CKD). This review describes the in-common mechanisms behind tissue damage in AKI caused by different underlying diseases. Comparing six high-quality microarray studies of renal gene expression after AKI in disease models (gram-negative sepsis, gram-positive sepsis, ischemia-reperfusion, malignant hypertension, rhabdomyolysis and cisplatin toxicity) identified 5254 differentially expressed genes in at least one of the AKI models...
December 20, 2017: Physiological Genomics
https://www.readbyqxmd.com/read/29339038/curcumin-inhibits-tgf-%C3%AE-1-induced-connective-tissue-growth-factor-expression-through-the-interruption-of-smad2-signaling-in-human-gingival-fibroblasts
#7
Jung-Tsu Chen, Chen-Ying Wang, Min-Huey Chen
BACKGROUND/PURPOSE: Many fibrotic processes are associated with an increased level of transforming growth factor-β1 (TGF-β1). TGF-β1 can increase synthesis of matrix proteins and enhance secretion of protease inhibitors, resulting in matrix accumulation. Connective tissue growth factor (CTGF) is a downstream profibrotic effector of TGF-β1 and is associated with the fibrosis in several human organs. Curcumin has been applied to reduce matrix accumulation in fibrotic diseases. This study was aimed to evaluate whether curcumin could suppress TGF-β1-induced CTGF expression and its related signaling pathway involving in this inhibitory action in primary human gingival fibroblasts...
January 13, 2018: Journal of the Formosan Medical Association, Taiwan Yi Zhi
https://www.readbyqxmd.com/read/29338156/attenuating-effect-of-long-term-culture-of-umbilical-cord-vein-mesenchymal-stromal-cells-on-pulmonary-fibrosis-in-c57bl-6-mice
#8
Maryam Moradi, Mohammad Ali Rezaee, Mehdi Mohammadi, Mohammad Jafar Rezaie, Ali Jalili, Mohammad Reza Rahmani
In recent studies, mesenchymal stromal cells (MSCs) have been increasingly employed to treat various diseases like pulmonary fibrosis (PF). There are very few MSCs in tissues so in order to obtain their sufficient numbers for therapeutic applications, their in vitro expansion is necessary. The aim of this study was to investigate the effects of long-term culture of the human umbilical cord vein MSCs (hUCV-MSCs) on pulmonary fibrosis in mice. MSCs were first isolated from human umbilical cord vein and cultured up to 18 passages...
December 2017: Iranian Journal of Allergy, Asthma, and Immunology
https://www.readbyqxmd.com/read/29334750/-remission-of-steroid-resistant-stills-disease-treated-with-anakinra-evidenced-by-fdg-pet-ct-examination-case-report
#9
Zdeněk Adam, Jana Skřičková, Milan Krtička, Zdeněk Řehák, Renata Koukalová, Andrea Šprláková, Marta Krejčí, Luděk Pour, Zdenka Adamová, Eva Pourová, Zdeněk Král
After elimination of infectious causes, neoplastic causes and the systemic autoimmune disease of connective tissue, a patient with high fevers over 39 °C was diagnosed with Stills disease. High doses of prednisone led to resolution of symptoms, however after reducing the doses of prednisone to 15 mg, high fevers over 39 °C returned, as well as joint pains. The high doses of prednisone led to decompensation of diabetes mellitus even with 4 daily insulin dosages. Therefore it was proceeded to regular subcutaneous administration of anakinra once a day...
2018: Vnitr̆ní Lékar̆ství
https://www.readbyqxmd.com/read/29332925/pulmonary-artery-pseudoaneurysm-secondary-to-lung-inf-lammation
#10
Shinichirou Ishimoto, Hiroyuki Sakurai, Ryouta Higure, Riken Kawachi, Mie Shimamura
Pulmonary artery aneurysms (PAA) and pseudoaneurysms (PAP) are caused by infections, vasculitis, trauma, pulmonary hypertension, congenital heart disease, and connective tissue disease. Most cases of such aneurysm occur in the trunk or major branches of the pulmonary artery, while the peripheral type is less common. The treatment modalities are medical therapy, surgery, and percutaneous catheter embolization. The mortality rate associated with rupture is approximately 50%. We encountered a case of a 53-year-old man with a pulmonary artery pseudoaneurysm secondary to pneumonia and cavity formation during chemotherapy for acute myeloid leukemia (AML)...
January 15, 2018: Annals of Thoracic and Cardiovascular Surgery
https://www.readbyqxmd.com/read/29331653/gallic-acid-attenuates-type-i-diabetic-nephropathy-in-rats
#11
Mayuresh Sudamrao Garud, Yogesh Anant Kulkarni
Literatures suggest that TGF-β1 have a central role in the progression of diabetic nephropathy and its down regulation can improve the disease condition. Oxidative stress, generation of advanced glycation end products and activation of renin angiotensin system are the connecting links between hyperglycemia and TGF-β1 over expression. Gallic acid is a phytochemical having wide range of biological activities. Gallic acid is reported to have antioxidant and advanced glycation inhibitory activity. It has also shown inhibitory effects on angiotensin converting enzyme...
January 10, 2018: Chemico-biological Interactions
https://www.readbyqxmd.com/read/29330836/pathogenesis-of-non-alcoholic-fatty-liver-disease-mediated-by-yap
#12
Ping Chen, Qihui Luo, Chao Huang, Qi Gao, Like Li, Jingfei Chen, Bing Chen, Wentao Liu, Wen Zeng, Zhengli Chen
OBJECTIVE: This study aimed to investigate the mechanism of the interaction between Yes-associated protein (YAP) and transforming growth factor-β (TGF-β)/Smad signaling pathways in the development of non-alcoholic fatty liver disease (NAFLD). METHODS: Serum samples of monkeys with biopsy-proven NAFLD and healthy normal monkeys were used to measure fasting plasma glucose (FPG), low-density lipoprotein (LDL), high-density lipoprotein (HDL), triglyceride (TG) and albumin (ALB) with the BECKMAN CX5 PRO...
January 12, 2018: Hepatology International
https://www.readbyqxmd.com/read/29329993/pulmonary-arterial-hypertension-in-four-patients-treated-by-leflunomide
#13
Valentin Coirier, Alain Lescoat, Céline Chabanne, Maxime Fournet, Guillaume Coiffier, Stéphane Jouneau, Elisabeth Polard, Patrick Jégo
Pulmonary arterial hypertension (PAH) is a rare disorder that can be drug-induced, mostly following treatment by appetite-suppressant drugs. We report four cases of patients who developed PAH following a treatment by leflunomide for rheumatoid arthritis, psoriatic arthritis or undetermined connective tissue disease. All patients described a progressive dyspnea from grade II to IV of NYHA classification; clinical examination found signs of heart failure. PAH was finally diagnosed and confirmed by right heart catheterisation...
January 9, 2018: Joint, Bone, Spine: Revue du Rhumatisme
https://www.readbyqxmd.com/read/29329546/whole-genome-sequencing-of-genotype-vi-newcastle-disease-viruses-from-formalin-fixed-paraffin-embedded-tissues-from-wild-pigeons-reveals-continuous-evolution-and-previously-unrecognized-genetic-diversity-in-the-u-s
#14
Ying He, Tonya L Taylor, Kiril M Dimitrov, Salman L Butt, James B Stanton, Iryna V Goraichuk, Heather Fenton, Rebecca Poulson, Jian Zhang, Corrie C Brown, Hon S Ip, Marcos Isidoro-Ayza, Claudio L Afonso
BACKGROUND: Newcastle disease viruses (NDV) are highly contagious and cause disease in both wild birds and poultry. A pigeon-adapted variant of genotype VI NDV, often termed pigeon paramyxovirus 1, is commonly isolated from columbids in the United States and worldwide. Complete genomic characterization of these genotype VI viruses circulating in wild columbids in the United States is limited, and due to the genetic variability of the virus, failure of rapid diagnostic detection has been reported...
January 12, 2018: Virology Journal
https://www.readbyqxmd.com/read/29329504/expression-of-vitamin-d-receptor-in-the-subsynovial-connective-tissue-in-women-with-carpal-tunnel-syndrome
#15
Kahyun Kim, Hyun Sik Gong, Jihyeung Kim, Goo Hyun Baek
Studies suggest that low vitamin D levels are associated with carpal tunnel syndrome. We aimed to evaluate whether level of vitamin D receptor expression in the endothelial cells of the subsynovial connective tissue is associated with clinical features of carpal tunnel syndrome. We obtained the subsynovial connective tissue from 52 women with carpal tunnel syndrome during surgery and performed immunohistochemical analysis of vitamin D receptors in the endothelial cells of the subsynovial connective tissue. We explored correlation of vitamin D receptor expression with clinical features of carpal tunnel syndrome, such as age, symptom duration, symptom severity and electrophysiological severity...
January 1, 2018: Journal of Hand Surgery, European Volume
https://www.readbyqxmd.com/read/29329127/cutis-laxa-acquisita-after-urticarial-vasculitis-in-sle-patients
#16
Kimberly B Golisch, Silvija P Gottesman, Patricia Ferrer, Keliegh S Culpepper
Cutis laxa is a rare connective tissue disease involving damage to dermal elastic fibers creating a clinical appearance of loose, sagging skin. The condition can be either acquired or genetic. Autoimmune diseases, neoplasms, infections, and medications have been proposed as the cause of, or in association with, the acquired form. In nearly 50% of cases, erythematous plaques present before the onset of cutis laxa. Separately, urticarial vasculitis and systemic lupus erythematosus have been linked to cutis laxa acquisita...
January 11, 2018: American Journal of Dermatopathology
https://www.readbyqxmd.com/read/29327616/nintedanib-for-the-treatment-of-idiopathic-pulmonary-fibrosis
#17
Francesco Varone, Giacomo Sgalla, Bruno Iovene, Teresa Bruni, Luca Richeldi
Idiopathic Pulmonary Fibrosis (IPF) is an interstitial lung disease characterized by the progressive loss of pulmonary function, ultimately leading to respiratory failure and death. Two novel compounds, nintedanib and pirfenidone, have shown efficacy in reducing the rate of decline of lung function in IPF patients. The multiple tyrosine kinase inhibitor nintedanib has extensively being studied as a potential angiogenesis inhibitor in clinical against various neoplastic disorders. Afterwards, this compound was successfully tested in IPF...
January 12, 2018: Expert Opinion on Pharmacotherapy
https://www.readbyqxmd.com/read/29326099/interleukin-18-diagnostically-distinguishes-and-pathogenically-promotes-human-and-murine-macrophage-activation-syndrome
#18
Eric S Weiss, Charlotte Girard-Guyonvarc'h, Dirk Holzinger, Adriana A de Jesus, Zeshan Tariq, Jennifer Picarsic, Eduardo J Schiffrin, Dirk Foell, Alexei A Grom, Sandra Ammann, Stephan Ehl, Tomoaki Hoshino, Raphaela Goldbach-Mansky, Cem Gabay, Scott W Canna
Hemophagocytic Lymphohistiocytosis (HLH) and Macrophage Activation Syndrome (MAS) are life-threatening hyperferritinemic systemic inflammatory disorders. Though profound cytotoxic impairment causes familial HLH (fHLH), the mechanisms driving non-fHLH and MAS are largely unknown. MAS occurs in patients with suspected rheumatic disease, but the mechanistic basis for its distinction is unclear. Recently, a syndrome of recurrent MAS with infantile enterocolitis caused by NLRC4 inflammasome hyperactivity highlighted the potential importance of Interleukin (IL)-18...
January 11, 2018: Blood
https://www.readbyqxmd.com/read/29325680/clinico-radio-pathological-characteristics-of-unclassifiable-idiopathic-interstitial-pneumonias
#19
Yasuhiko Nakamura, Keishi Sugino, Masashi Kitani, Akira Hebisawa, Naobumi Tochigi, Sakae Homma
BACKGROUND: The purpose of this study was to clarify the clinico-radio-pathological characteristics and prognostic factors of unclassifiable-idiopathic interstitial pneumonias (U-IIPs) diagnosed by surgical lung biopsy. METHODS: Among 86 patients with interstitial pneumonia who underwent surgical lung biopsy from January 2005 to September 2013, 33 (38.4%; 16 male patients; mean age, 64.4 ± 8.8 years) were diagnosed with U-IIPs. They were subsequently categorized into rapidly progressive (n = 7), slowly progressive (n = 7), and stable (n = 19) groups based on the decrease of the percent predicted forced vital capacity or percent predicted diffusing capacity of the lung carbon monoxide and the occurrence of acute exacerbation...
January 2018: Respiratory Investigation
https://www.readbyqxmd.com/read/29325627/epigenetic-mechanisms-underlying-nervous-system-diseases
#20
Irfan A Qureshi, Mark F Mehler
Epigenetic mechanisms act as control systems for modulating genomic structure and activity in response to evolving profiles of cell-extrinsic, cell-cell, and cell-intrinsic signals. These dynamic processes are responsible for mediating cell- and tissue-specific gene expression and function and gene-gene and gene-environmental interactions. The major epigenetic mechanisms include DNA methylation and hydroxymethylation; histone protein posttranslational modifications, nucleosome remodeling/repositioning, and higher-order chromatin reorganization; noncoding RNA regulation; and RNA editing...
2018: Handbook of Clinical Neurology
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