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Connective tissue disorders

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https://www.readbyqxmd.com/read/29350777/the-pathology-of-lumbosacral-lipomas-macroscopic-and-microscopic-disparity-have-implications-for-embryogenesis-and-mode-of-clinical-deterioration
#1
Victoria Jones, Victoria Wykes, Nicki Cohen, Dominic Thompson, Thomas S Jacques
AIMS: Lumbosacral lipomas (LSL) are congenital disorders of the terminal spinal cord region that have the potential to cause significant spinal cord dysfunction in children. They are of unknown embryogenesis with variable clinical presentation and natural history. It is unclear whether the spinal cord dysfunction reflects a primary developmental dysplasia or whether it occurs secondarily to mechanical traction (spinal cord tethering) with growth. Whilst different anatomical subtypes are recognised and classified according to radiological criteria, these subtypes correlate poorly with clinical prognosis...
January 19, 2018: Histopathology
https://www.readbyqxmd.com/read/29348999/open-repair-of-quadriceps-tendon-with-suture-anchors-and-semitendinosus-tendon-allograft-augmentation
#2
Jorge Chahla, Nicholas N DePhillipo, Mark E Cinque, Nicholas I Kennedy, George F Lebus, Filippo Familiari, Gilbert Moatshe, Robert F LaPrade
Quadriceps tendinopathy in an increasingly recognized diagnosis can lead to quadriceps tendon rupture, especially in the older population. It can be caused by repeated micro trauma or also predisposed by systemic diseases such as diabetes mellitus and connective tissue disorders that can in turn lead to extensor mechanism deficits. Although a trial of conservative treatment is advocated, operative treatment should be performed in cases of persistent pain, extension deficit, or complete rupture of the tendon...
December 2017: Arthroscopy Techniques
https://www.readbyqxmd.com/read/29347981/radiation-induced-pulmonary-gene-expression-changes-are-attenuated-by-the-ctgf-antibody-pamrevlumab
#3
Mark D Sternlicht, Ute Wirkner, Sebastian Bickelhaupt, Ramon Lopez Perez, Alexandra Tietz, Kenneth E Lipson, Todd W Seeley, Peter E Huber
BACKGROUND: Fibrosis is a delayed side effect of radiation therapy (RT). Connective tissue growth factor (CTGF) promotes the development of fibrosis in multiple settings, including pulmonary radiation injury. METHODS: To better understand the cellular interactions involved in RT-induced lung injury and the role of CTGF in these responses, microarray expression profiling was performed on lungs of irradiated and non-irradiated mice, including mice treated with the anti-CTGF antibody pamrevlumab (FG-3019)...
January 18, 2018: Respiratory Research
https://www.readbyqxmd.com/read/29346558/thoraco-abdominal-aortic-aneurysm-rupture-in-a-patient-with-shprintzen-goldberg-syndrome
#4
Naritaka Kimura, Yu Inaba, Kaori Kameyama, Hideyuki Shimizu
Shprintzen-Goldberg syndrome is a rare systemic connective tissue disorder characterized by craniosynostosis, skeletal abnormalities, infantile hypotonia, mild-to-moderate intellectual disability and cardiovascular anomalies. To our knowledge, this is the first report of a Shprintzen-Goldberg syndrome patient who developed a thoraco-abdominal aortic aneurysm. The aneurysm grew rapidly necessitating emergent thoraco-abdominal aortic replacement. The postoperative course was uneventful, and a careful lifetime follow-up was planned...
January 16, 2018: Interactive Cardiovascular and Thoracic Surgery
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
#5
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/29343719/the-significant-role-of-c-abl-kinase-in-barrier-altering-agonists-mediated-cytoskeletal-biomechanics
#6
X Wang, L Wang, J G N Garcia, S M Dudek, G S Shekhawat, V P Dravid
Exploration of human pulmonary artery endothelial cell (EC) as a prototypical biomechanical system has important pathophysiologic relevance because this cell type plays a key role in the development of a wide variety of clinical conditions. The complex hierarchical organization ranging from the molecular scale up to the cellular level has an intimate and intricate relationship to the barrier function between lung tissue and blood. To understand the innate molecule-cell-tissue relationship across varied length-scales, the functional role of c-Abl kinase in the cytoskeletal nano-biomechanics of ECs in response to barrier-altering agonists was investigated using atomic force microscopy...
January 17, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29339239/multiple-melanonychia-striata-as-a-sign-of-connective-tissue-disorders
#7
Tomohiro Edamitsu, Hisashi Uhara, Akane Minagawa, Ryuhei Okuyama
No abstract text is available yet for this article.
January 12, 2018: Journal of the American Academy of Dermatology
https://www.readbyqxmd.com/read/29329993/pulmonary-arterial-hypertension-in-four-patients-treated-by-leflunomide
#8
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/29329790/plant-derived-mpges-1-inhibitors-or-suppressors-a-new-emerging-trend-in-the-search-for-small-molecules-to-combat-inflammation
#9
REVIEW
Haroon Khan, Kannan R R Rengasamy, Aini Pervaiz, Seyed Mohammad Nabavi, Atanas G Atanasov, Mohammad A Kamal
Inflammation comprises the reaction of the body to injury, in which a series of changes of the terminal vascular bed, blood, and connective tissue tends to eliminate the injurious agent and to repair the damaged tissue. It is a complex process, which involves the release of diverse regulatory mediators. The current anti-inflammatory agents are challenged by multiple side effects and thus, new effective therapies are highly needed. The aim of this review is to summarize the described microsomal prostaglandin E synthase-1 (mPGES-1) inhibitors or transcriptional suppressors from medicinal plants, which could be an ideal approach in the management of inflammatory disorders, but need further clinical trials in order to be ultimately validated...
December 23, 2017: European Journal of Medicinal Chemistry
https://www.readbyqxmd.com/read/29329516/bilateral-giant-retinal-tears-in-osteogenesis-imperfecta
#10
Paolo Scollo, Martin Paul Snead, Allan James Richards, Rebecca Pollitt, Catherine DeVile
BACKGROUND: Osteogenesis imperfecta (OI) is a rare primarily autosomal dominant condition in which the connective tissues of bones, ligaments and sclerae do not form properly. Typically, mutations in COL1A1 and COL1A2 genes lead to the defective formation or quantity of type I collagen, the principle matrix in these tissues. Molecular genetic studies have now elucidated multiple genetic subtypes of the disorder but little literature exists on the risk of retinal tears and detachments in OI...
January 12, 2018: BMC Medical Genetics
https://www.readbyqxmd.com/read/29328753/a-critical-analysis-of-the-perioperative-management-of-patients-with-ehlers-danlos-type-iv-vascular-syndrome
#11
Justyna Martin
This article discusses the perioperative care needs of patients with Ehlers Danlos type IV (vascular) syndrome. Ehlers Danlos syndrome (EDS) is a heritable group of connective tissue disorders characterised by varying degrees of tissue, blood vessel and internal organ fragility as well as skin and joint hypermobility (De Paepe and Malfait 2012).
September 2017: Journal of Perioperative Practice
https://www.readbyqxmd.com/read/29328039/influence-of-metabolic-syndrome-on-condition-of-microcirculatory-bed-of-oral-cavity
#12
O Denga, T Pyndus, V Gargin, S Schneider
Metabolic syndrome (MS) can be characterized as the clustering of combination of impaired glucose regulation, metabolic disorders accompanied by abdominal obesity, hyperglycemia, high blood pressure and dyslipidemia. Detection of changes in microcirculatory bed (MCB) of oral cavity in metabolic syndrome could be important for completion of gap for developing of adequate therapeutical measure for prevention of pathological periodontal disorder that was the purpose of our study. We performed experimental investigation with modulation of MS (on white male rats 1...
December 2017: Georgian Medical News
https://www.readbyqxmd.com/read/29327616/nintedanib-for-the-treatment-of-idiopathic-pulmonary-fibrosis
#13
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
#14
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/29324934/stem-cells-therapy-the-future-in-the-management-of-systemic-sclerosis-a-case-report
#15
Jung In Song, Silvanie Volz, Maria Eirini Liodaki, Peter Mailänder, Konstantinos Kalousis
OBJECTIVE: Systemic sclerosis (SSc) is a connective tissue disorder of unknown etiology, with heterogeneous clinical manifestations and chronic and often progressive course. The diffuse cutaneous form of SSc (dcSSc) is characterized by thickening of the skin (scleroderma) and distinctive involvement of multiple internal organs. Patients with limited cutaneous SSc (lcSSc) generally have long-standing Raynaud's phenomenon before other manifestations of SSc appear. Over the last decade the Interest of adipose-derived cell therapy in regenerative medicine has increased continuously...
September 2017: Hellenic Journal of Nuclear Medicine
https://www.readbyqxmd.com/read/29323665/arterial-tortuosity-syndrome-40-new-families-and-literature-review
#16
Aude Beyens, Juliette Albuisson, Annekatrien Boel, Mazen Al-Essa, Waheed Al-Manea, Damien Bonnet, Ozlem Bostan, Odile Boute, Tiffany Busa, Nathalie Canham, Ergun Cil, Paul J Coucke, Margot A Cousin, Majed Dasouki, Julie De Backer, Anne De Paepe, Sofie De Schepper, Deepthi De Silva, Koenraad Devriendt, Inge De Wandele, David R Deyle, Harry Dietz, Sophie Dupuis-Girod, Eudice Fontenot, Björn Fischer-Zirnsak, Alper Gezdirici, Jamal Ghoumid, Fabienne Giuliano, Neus Baena Diéz, Mohammed Z Haider, Joshua S Hardin, Xavier Jeunemaitre, Eric W Klee, Uwe Kornak, Manuel F Landecho, Anne Legrand, Bart Loeys, Stanislas Lyonnet, Helen Michael, Pamela Moceri, Shehla Mohammed, Laura Muiño-Mosquera, Sheela Nampoothiri, Karin Pichler, Katrina Prescott, Anna Rajeb, Maria Ramos-Arroyo, Massimiliano Rossi, Mustafa Salih, Mohammed Z Seidahmed, Elise Schaefer, Elisabeth Steichen-Gersdorf, Sehime Temel, Fahrettin Uysal, Marine Vanhomwegen, Lut Van Laer, Lionel Van Maldergem, David Warner, Andy Willaert, Tom R Collins, Andrea Taylor, Elaine C Davis, Yuri Zarate, Bert Callewaert
PurposeWe delineate the clinical spectrum and describe the histology in arterial tortuosity syndrome (ATS), a rare connective tissue disorder characterized by tortuosity of the large and medium-sized arteries, caused by mutations in SLC2A10.MethodsWe retrospectively characterized 40 novel ATS families (50 patients) and reviewed the 52 previously reported patients. We performed histology and electron microscopy (EM) on skin and vascular biopsies and evaluated TGF-β signaling with immunohistochemistry for pSMAD2 and CTGF...
January 11, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29322374/echocardiographic-assessment-of-regional-right-ventricular-systolic-function-using-two-dimensional-strain-echocardiography-and-evaluation-of-the-predictive-ability-of-longitudinal-2d-strain-imaging-for-pulmonary-arterial-hypertension-in-systemic-sclerosis-patients
#17
Vedat Hekimsoy, Ergun Barıs Kaya, Ali Akdogan, Levent Sahiner, Banu Evranos, Ugur Canpolat, Kudret Aytemir, Necla Özer, Lale Tokgozoglu
Systemic sclerosis (SSc) is a generalized connective tissue disorder, and SSc patients are at risk of developing pulmonary arterial hypertension (PAH). The aims of this study are to evaluate the right ventricular regional systolic function using two-dimensional speckle-tracking echocardiography (2D STE) and to determine the predictive ability of peak longitudinal systolic strain (PLSS) at the RV lateral wall for PAH in SSc patients. 80 SSc patients (mean age 51 ± 12 years) were included in the study. Echocardiography and 2D STE were performed at baseline and after 12 months...
January 10, 2018: International Journal of Cardiovascular Imaging
https://www.readbyqxmd.com/read/29321714/cavum-vergae-liability-and-steroid-treatment-manic-episode-brain-imaging-findings-and-clinical-follow-up-of-a-systemic-lupus-erythematosus-case
#18
Emre Misir, İbrahim Tolga Binbay, Bilge Targitay, Hidayet Ece Arat, Gerçek Can, Köksal Alptekin
Systemic lupus erythematosus (SLE) or Lupus is a chronic and idiopathic autoimmune connective tissue disease that involves several organs and organ systems. SLE may lead to a group of psychiatric manifestations, including delirium, anxiety disorders, cognitive dysfunction, mood disorders, and psychosis, which are caused by organic or non-organic factors. In addition, it is thought that the most common cause of neuropsychiatric lupus is corticosteroid use; central nervous system involvement and inflammatory processes also have an important role in the development of psychiatric manifestations...
December 2017: Noro Psikiyatri Arsivi
https://www.readbyqxmd.com/read/29320330/cardiovascular-manifestations-and-complications-of-loeys-dietz-syndrome-ct-and-mr-imaging-findings
#19
William W Loughborough, Kishore S Minhas, Jonathan C L Rodrigues, Stephen M Lyen, Helen E Burt, Nathan E Manghat, Marcus J Brooks, Graham Stuart, Mark C K Hamilton
Loeys-Dietz syndrome (LDS) is a recently described genetic connective tissue disorder with a wide spectrum of multisystem involvement. LDS is characterized by rapidly progressive aortic and peripheral arterial aneurysmal disease. LDS and the other inherited aortopathies such as Marfan syndrome have overlapping phenotypic features. However, LDS is characterized by a more aggressive vascular course; patient morbidity and mortality occur at an early age, with complications developing at relatively smaller aortic dimensions...
January 2018: Radiographics: a Review Publication of the Radiological Society of North America, Inc
https://www.readbyqxmd.com/read/29320324/spectrum-of-coronary-artery-aneurysms-from-the-radiologic-pathology-archives
#20
Jean Jeudy, Charles S White, Seth J Kligerman, Jonathan L Killam, Allen P Burke, Jacob W Sechrist, Amar B Shah, Rydhwana Hossain, Aletta Ann Frazier
Advances in medical diagnosis reveal that coronary artery aneurysms (CAAs) may develop in several clinical scenarios and manifest variable symptoms, imaging appearances, and outcomes. Aneurysms are pathologically classified into three groups: atherosclerotic, inflammatory, and noninflammatory. The last category is associated with congenital, inherited, and connective tissue disorders. Overlap exists among the groups, because secondary atherosclerotic change may be present in an aneurysm of any cause. Atherosclerosis is the most common cause of CAAs in adults, and inflammation is considered the underlying mechanism...
January 2018: Radiographics: a Review Publication of the Radiological Society of North America, Inc
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