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Connective tissue diseases

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https://www.readbyqxmd.com/read/29224258/progressive-osseous-heteroplasia-in-a-chinese-infant-and-a-novel-mutation-in-the-gnas-gene
#1
Shi-De Zhang, Zhuang-Li Xie, Ke-Qing Zhang, Karina Nht, Jing-Jun Zhao
Progressive osseous heteroplasia(POH,OMIM 166350) is a rare inherited disease that begins with skin ossification and proceeds into the deeper connective tissues. Most cases of POH are caused by heterozygous inactivating mutations of GNAS gene. Herein, we report a new sporadic case of atypical POH and its underlying genetic basis. This article is protected by copyright. All rights reserved.
December 10, 2017: Journal of the European Academy of Dermatology and Venereology: JEADV
https://www.readbyqxmd.com/read/29223166/protein-poly-adp-ribosyl-ation-system-changes-in-development-and-aging-as-well-as-due-to-restriction-of-cell-proliferation
#2
REVIEW
G A Shilovsky, S I Shram, G V Morgunova, A N Khokhlov
It is well known that the number of dividing cells in an organism decreases with age. The average rate of cell division in tissues and organs of a mature organism sharply decreases, which is probably a trigger for accumulation of damage leading to disturbance of genome integrity. This can be a cause for the development of many age-related diseases and appearance of phenotypic and physiological signs of aging. In this connection, the protein poly(ADP-ribosyl)ation system, which is activated in response to appearance of various DNA damage, attracts great interest...
November 2017: Biochemistry. Biokhimii︠a︡
https://www.readbyqxmd.com/read/29222007/current-concepts-in-pathogenesis-diagnosis-and-management-of-smoking-related-interstitial-lung-diseases
#3
REVIEW
Anupam Kumar, Sujith V Cherian, Robert Vassallo, Eunhee S Yi, Jay H Ryu
Tobacco exposure results in various changes to the airways and lung parenchyma. While emphysema represents the more common injury pattern, in some individuals, cigarette smoke injures alveolar epithelial and other lung cells resulting in diffuse infiltrates and parenchymal fibrosis. Smoking can trigger interstitial injury patterns mediated via recruitment and inappropriate persistence of myeloid and other immune cells including eosinophils. As our understanding of the role of cigarette smoke constituents in triggering lung injury continues to evolve, so does our recognition of the spectrum of smoking-related interstitial lung changes...
December 5, 2017: Chest
https://www.readbyqxmd.com/read/29221812/role-of-immune-cells-in-crystal-induced-kidney-fibrosis
#4
REVIEW
Ermanila Dhana, Isis Ludwig-Portugall, Christian Kurts
Chronic kidney diseases can lead to kidney fibrosis, which can be considered a futile attempt of tissue healing to replaces functional kidney tissue with connective tissue, basically forming a scar. Chronic inflammation is a frequent cause of kidney fibrosis. Classical as well as recently discovered immune cell subsets and their molecular mediators have been intensively investigated for their contribution to kidney fibrosis and their potential as therapeutic targets. Here we review the current knowledge about the role of immune cells in crystal-induced renal fibrosis...
December 5, 2017: Matrix Biology: Journal of the International Society for Matrix Biology
https://www.readbyqxmd.com/read/29221579/biomarkers-in-connective-tissue-diseases
#5
REVIEW
Neelakshi R Jog, Judith A James
Autoimmune connective tissue diseases are clinically variable, making biomarkers desirable for assessing future disease risk, supporting early and accurate diagnosis, monitoring disease activity and progression, selecting therapeutics, and assessing treatment response. Because of their correlations with specific clinical characteristics and often with disease progression, autoantibodies and other soluble mediators are considered potential biomarkers. Additional biomarkers might reflect downstream pathologic processes or appear because of ongoing inflammation and damage...
December 2017: Journal of Allergy and Clinical Immunology
https://www.readbyqxmd.com/read/29220303/locally-aggressive-connective-tissue-tumors
#6
Mrinal M Gounder, David M Thomas, William D Tap
In this review, we highlight the complexities of the natural history, biology, and clinical management of three intermediate connective tissue tumors: desmoid tumor (DT) or aggressive fibromatosis, tenosynovial giant cell tumor (TGCT) or diffuse-type pigmented villonodular synovitis (dtPVNS), and giant cell tumor of bone (GCTB). Intermediate histologies include tumors of both soft tissue and bone origin and are locally aggressive and rarely metastatic. Some common aspects to these tumors are that they can be locally infiltrative and/or impinge on critical organs, which leads to disfigurement, pain, loss of function and mobility, neurovascular compromise, and occasionally life-threatening consequences, such as mesenteric, bowel, ureteral, and/or bladder obstruction...
December 8, 2017: Journal of Clinical Oncology: Official Journal of the American Society of Clinical Oncology
https://www.readbyqxmd.com/read/29219182/the-emerging-role-of-hippo-signaling-pathway-in-regulating-osteoclast-formation
#7
REVIEW
Wanlei Yang, Weiqi Han, An Qin, Ziyi Wang, Jiake Xu, Yu Qian
A delicate balance between osteoblastic bone formation and osteoclastic bone resorption is crucial for bone homeostasis. This process is regulated by the Hippo signaling pathway including key regulatory molecules RASSF2, NF2, MST1/2, SAV1, LATS1/2, MOB1, YAP and TAZ. It is well established that the Hippo signaling pathway plays an important part in regulating osteoblast differentiation, but its role in osteoclast formation and activation remains poorly understood. In this review, we discuss the emerging role of Hippo-signaling pathway in osteoclast formation and bone homeostasis...
December 8, 2017: Journal of Cellular Physiology
https://www.readbyqxmd.com/read/29218289/craniofacial-fibrous-dysplasia-of-zygomaticomaxillary-complex
#8
Kumar Nilesh, Prashant Punde, M I Parkar
Fibrous dysplasia is a benign bone disease first described by Lichtenstein in 1938. It is characterized by progressive replacement of normal bone with fibro-osseous connective tissue. When the disease involves craniofacial skeleton, it results in significant disfigurement and other functional problems. This paper reports a case of large craniofacial fibrous dysplasia involving zygomaticomaxillary complex in a 24-year old male patient. Clinical presentation and imaging characteristics of the pathology is discussed in detail...
September 2017: World Journal of Plastic Surgery
https://www.readbyqxmd.com/read/29212896/the-novel-desmin-mutation-p-glu401asp-impairs-filament-formation-disrupts-cell-membrane-integrity-and-causes-severe-arrhythmogenic-left-ventricular-cardiomyopathy-dysplasia
#9
Francisco José Bermúdez-Jiménez, Víctor Carriel, Andreas Brodehl, Miguel Alaminos, Antonio Campos, Ilona Schirmer, Hendrik Milting, Beatriz Álvarez Abril, Miguel Álvarez, Silvia López-Fernández, Diego García-Giustiniani, Lorenzo Monserrat, Luis Tercedor, Juan Jiménez-Jáimez
Background -Desmin (DES) mutations cause severe skeletal and cardiac muscle disease with heterogeneous phenotypes. Recently, DES mutations were described in patients with inherited arrhythmogenic right ventricular cardiomyopathy/dysplasia (iARVC/D), although their cellular and molecular pathomechanisms are not precisely known. Our aim is to describe clinically and functionally the novel DES-p.Glu401Asp mutation as a cause of inherited left ventricular arrhythmogenic cardiomyopathy/dysplasia (iLVAC/D). Methods -We identified the novel DES mutation p...
December 6, 2017: Circulation
https://www.readbyqxmd.com/read/29209813/fsp1-specific-smad2-knockout-in-renal-tubular-endothelial-and-interstitial-cells-reduces-fibrosis-and-epithelial-to-mesenchymal-transition-in-murine-stz-induced-diabetic-nephropathy
#10
Ivonne Loeffler, Marita Liebisch, Stefanie Allert, Elke Kunisch, Raimund W Kinne, Gunter Wolf
Extracellular matrix deposition during tubulointerstitial fibrosis (TIF), a central pathological process in patients with diabetic nephropathy (DN), is driven by locally activated, disease-relevant myofibroblasts. Myofibroblasts can arise from various cellular sources, e.g., tubular epithelial cells via a process named epithelial-to-mesenchymal transition (EMT). Transforming growth factor beta 1 (TGF-β1) and its downstream Smad signaling play a critical role in both TIF and EMT. Whereas Smad3 is one central mediator, the role of the other prominently expressed variant, Smad2, is not completely understood...
December 6, 2017: Cell and Tissue Research
https://www.readbyqxmd.com/read/29209506/border-terriers-under-primary-veterinary-care-in-england-demography-and-disorders
#11
Dan G O'Neill, Elisabeth C Darwent, David B Church, Dave C Brodbelt
Background: The Border Terrier is a working terrier type that is generally considered to be a relatively healthy and hardy breed. This study aimed to characterise the demography and common disorders of Border Terriers receiving veterinary care in England using de-identified electronic patient record data within the VetCompass™ Programme. Results: Annual birth proportion for Border Terriers showed a decreasing trend from 1.46% in 2005 to 0.78% in 2014. The median adult bodyweight for males (10...
2017: Canine Genetics and Epidemiology
https://www.readbyqxmd.com/read/29208852/extremely-high-serum-ferritin-an-instrumental-marker-of-masquerading-adult-onset-still-s-disease-with-hemophagocytic-syndrome
#12
Shun Yamashita, Naoko E Furukawa, Tomoyo Matsunaga, Yuka Hirakawa, Masaki Tago, Shu-Ichi Yamashita
BACKGROUND Adult-onset Still's disease (AOSD) is a rare multi-systemic inflammatory disorder of unknown etiology characterized by spiking fever, characteristic rash, and arthritis. It often associates with high serum ferritin levels. CASE REPORT An 88-year-old woman had fever of over 39°C without response to extended-spectrum antibiotics for 6 days. She had non-specific erythema with infiltration on her trunk. She had leukocytosis with neutrophilia of 80%, mild hepatic dysfunction, normal level of rheumatoid factor and antinuclear antibody, thrombocytopenia, elevated d-dimer and soluble interleukin2 receptor, extremely high serum ferritin (78 662 ng/mL), and splenomegaly...
December 6, 2017: American Journal of Case Reports
https://www.readbyqxmd.com/read/29207307/systemic-sclerosis-clinical-manifestations-anesthetic-and-orthopedic-considerations-in-a-patient
#13
Obada Hasan, Muneeba Jessar, Muhammad Ashar, Shahryar Noordin, Tashfeen Ahmad
INTRODUCTION: Systemic sclerosis is a rare and progressive multisystem autoimmune disorder that is characterized pathologically by vascular abnormalities, connective tissue sclerosis and atrophy of skin and various internal organs (e.g., alimentary tract, lungs, heart, kidney, CNS), and autoantibodies. With an unknown etiology, Scleroderma is a complex polygenetic disease. A recent Genome Wide Association Study (GWAS) confirmed a strong association with the Major Histocompatibility Complex (MHC) and autoimmunity...
December 2, 2017: International Journal of Surgery Case Reports
https://www.readbyqxmd.com/read/29206104/science-forum-the-human-cell-atlas
#14
Aviv Regev, Sarah A Teichmann, Eric S Lander, Ido Amit, Christophe Benoist, Ewan Birney, Bernd Bodenmiller, Peter J Campbell, Piero Carninci, Menna Clatworthy, Hans Clevers, Bart Deplancke, Ian Dunham, James Eberwine, Roland Eils, Wolfgang Enard, Andrew Farmer, Lars Fugger, Berthold Göttgens, Nir Hacohen, Muzlifah Haniffa, Martin Hemberg, Seung K Kim, Paul Klenerman, Arnold Kriegstein, Ed Lein, Sten Linnarsson, Emma Lundberg, Joakim Lundeberg, Partha Majumder, John C Marioni, Miriam Merad, Musa Mhlanga, Martijn Nawijn, Mihai Netea, Garry Nolan, Dana Pe'er, Anthony Phillipakis, Chris P Ponting, Stephen R Quake, Wolf Reik, Orit Rozenblatt-Rosen, Joshua R Sanes, Rahul Satija, Ton N Schumacher, Alex K Shalek, Ehud Shapiro, Padmanee Sharma, Jay W Shin, Oliver Stegle, Michael R Stratton, Michael J T Stubbington, Fabian J Theis, Matthias Uhlen, Alexander van Oudenaarden, Allon Wagner, Fiona M Watt, Jonathan S Weissman, Barbara J Wold, Ramnik J Xavier, Nir Yosef
The recent advent of methods for high-throughput single-cell molecular profiling has catalyzed a growing sense in the scientific community that the time is ripe to complete the 150-year-old effort to identify all cell types in the human body. The Human Cell Atlas Project is an international collaborative effort that aims to define all human cell types in terms of distinctive molecular profiles (such as gene expression profiles) and to connect this information with classical cellular descriptions (such as location and morphology)...
December 5, 2017: ELife
https://www.readbyqxmd.com/read/29203757/variant-of-myocardial-infarction-course-in-the-patient-with-left-ventricular-non-compaction
#15
Natalia Y Osovska, Oleksandr I Datsyuk, Natalia V Kuzminova, Yevhen V Shaprynskyi, Hennadii V Bevz, Yaroslav M Pashynskyy, Oleksandr D Bondarchuk, Olena V Sergiichuk, Yaroslav V Karyi, Galina M Mazur
Non-compacted left ventricle in adults is a rare occurrence, though it is diagnosed even more rarely. As a rule in patients with non-compacted left ventricle (LVNC) other pathologic condition is diagnosed, notably hypertrophic or dilated cardiomyopathy. The majority of LVNC cases are diagnosed in early infancy but currently there are asymptomatic cases detected by means of echocardiographic examination. Real prevalence of LVNC is unknown. According to many authors LVNC occurs in 9.2-9.5% of children with diagnosed cardiomyopathies...
2017: Wiadomości Lekarskie: Organ Polskiego Towarzystwa Lekarskiego
https://www.readbyqxmd.com/read/29203039/-vascular-calcification-in-pseudoxanthoma-elasticum-in-children
#16
A Dibi, N Mouane, E El Fahime, R Dafiri, A Bentahila
INTRODUCTION: Vascular calcifications are associated with several diseases that affect vascular connective tissue and skin and cause considerable morbidity and mortality. The prototype of these conditions is pseudoxanthoma elasticum. We report, in this study, 4 pediatric cases of vascular calcifications diagnosed as elastic pseudoxanthoma. OBSERVATIONS: These 4 children were 2-11 years old and presented variable clinical features. Vascular involvement and arterial hypertension was observed in all patients, skin involvement in 2 cases, gastrointestinal involvement in 2 cases, neurological impairment in one case, and cardiac involvement in one case...
December 2017: Journal de Médecine Vasculaire
https://www.readbyqxmd.com/read/29202645/influence-of-specific-comorbidities-on-survival-after-early-stage-breast-cancer
#17
Marianne Ewertz, Lotte Holm Land, Susanne Oksbjerg Dalton, Deirdre Cronin-Fenton, Maj-Britt Jensen
BACKGROUND: While comorbidity indices are useful for describing trends in survival, information on specific comorbidities is needed for the clinician advising the individual breast cancer patient on her treatment. Here we present an analysis of overall survival, breast cancer-specific mortality, and effect of medical adjuvant treatment among breast cancer patients suffering from 12 major comorbidities compared with breast cancer patients without comorbidities. MATERIAL AND METHODS: The study population was identified from the Danish Breast Cancer Cooperative Group and included 59,673 women without prior cancer diagnosed with early-stage breast cancer in Denmark from 1990 to 2008 with an estimated median potential follow-up of 14 years and 10 months...
December 5, 2017: Acta Oncologica
https://www.readbyqxmd.com/read/29202589/interstitial-lung-disease-in-systemic-autoimmune-rheumatic-diseases-a-comprehensive-review
#18
Fabiola Atzeni, Maria Chiara Gerardi, Giuseppe Barilaro, Ignazio Francesco Masala, Maurizio Benucci, Piercarlo Sarzi-Puttini
Interstitial lung diseases (ILDs) are among the most serious complications associated with systemic rheumatic diseases, and lead to significant morbidity and mortality; they may also be the first manifestation of connective tissue diseases (CTDs). The aim of this narrative review is to summarise the data concerning the pathogenesis of CTD/ILD and its distinguishing features in different rheumatic diseseas. Areas covered: The pathogenesis, clinical aspects and treatment of ILD associated with rheumatic systemic diseases and CTDs were reviewed by searching the PubMed, Medline, and Cochrane Library databases for papers published between 1995 and February 2017 using combinations of words or terms...
December 5, 2017: Expert Review of Clinical Immunology
https://www.readbyqxmd.com/read/29201640/connectome-analysis-with-diffusion-mri-in-idiopathic-parkinson-s-disease-evaluation-using-multi-shell-multi-tissue-constrained-spherical-deconvolution
#19
Koji Kamagata, Andrew Zalesky, Taku Hatano, Maria Angelique Di Biase, Omar El Samad, Shinji Saiki, Keigo Shimoji, Kanako K Kumamaru, Kouhei Kamiya, Masaaki Hori, Nobutaka Hattori, Shigeki Aoki, Christos Pantelis
Parkinson's disease (PD) is a progressive neurodegenerative disorder that affects extensive regions of the central nervous system. In this work, we evaluated the structural connectome of patients with PD, as mapped by diffusion-weighted MRI tractography and a multi-shell, multi-tissue (MSMT) constrained spherical deconvolution (CSD) method to increase the precision of tractography at tissue interfaces. The connectome was mapped with probabilistic MSMT-CSD in 21 patients with PD and in 21 age- and gender-matched controls...
2018: NeuroImage: Clinical
https://www.readbyqxmd.com/read/29201156/evidence-based-management-of-raynaud-s-phenomenon
#20
REVIEW
Ariane L Herrick
Raynaud's phenomenon (RP) is relevant to the rheumatologist because it may signify an underlying connective tissue disease and also because it can be very challenging to treat, especially when it has progressed to digital ulceration or critical ischaemia. This review article discusses diagnosis (does this patient have an underlying connective tissue disease?), including the role for nailfold capillaroscopy, and treatment. Management of 'uncomplicated' RP is first described and then treatment of RP complicated by progression to digital ulceration or critical ischaemia, highlighting recent advances (including phosphodiesterase type 5 inhibition, and endothelin 1 receptor antagonism) and the evidence base underpinning these...
December 2017: Therapeutic Advances in Musculoskeletal Disease
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