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https://www.readbyqxmd.com/read/27911810/in-vivo-bioluminescence-imaging-reveals-copper-deficiency-in-a-murine-model-of-nonalcoholic-fatty-liver-disease
#1
Marie C Heffern, Hyo Min Park, Ho Yu Au-Yeung, Genevieve C Van de Bittner, Cheri M Ackerman, Andreas Stahl, Christopher J Chang
Copper is a required metal nutrient for life, but global or local alterations in its homeostasis are linked to diseases spanning genetic and metabolic disorders to cancer and neurodegeneration. Technologies that enable longitudinal in vivo monitoring of dynamic copper pools can help meet the need to study the complex interplay between copper status, health, and disease in the same living organism over time. Here, we present the synthesis, characterization, and in vivo imaging applications of Copper-Caged Luciferin-1 (CCL-1), a bioluminescent reporter for tissue-specific copper visualization in living animals...
November 29, 2016: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/27911244/neurosurgical-management-in-lateral-meningocele-syndrome-case-report
#2
Erik C Brown, Kunal Gupta, Christina Sayama
Lateral meningocele syndrome (LMS) is a rare genetic connective tissue disorder. It is associated with morphological changes similar to those of other connective tissue disorders, with the unique distinction of multiple, often bilateral and large, lateral meningoceles herniating through the spinal foramina. In some cases, these lateral meningoceles can cause pain and discomfort due to their presence within retroperitoneal tissues or cause direct compression of the spinal nerve root exiting the foramen; in some cases compression may also involve motor weakness...
December 2, 2016: Journal of Neurosurgery. Pediatrics
https://www.readbyqxmd.com/read/27905201/the-symptom-matrix-using-a-formalism-based-approach-to-address-complex-syndromes-systematically
#3
Jennifer D Skillen
Complex rheumatological syndromes such as Systemic lupus erythematosus, Sjogren's Syndrome and many connective tissue disorders can be a challenge to classify and diagnose, due to their wide-ranging signs and symptoms, not all of which will necessarily be present in all patients. This can result in difficulties for the clinician, patient and researcher if signs and symptoms are either overlooked or are incorrectly included in the nosology or classification of diseases. This article presents a formalism-based approach to describing syndromes...
December 1, 2016: Musculoskeletal Care
https://www.readbyqxmd.com/read/27895669/myeloproliferative-disease-an-unusual-cause-of-raynaud-s-phenomenon-and-digital-ischaemia
#4
Celia Beynon, Gwenan Huws, Tom Lawson
We describe a 59-year-old female who presented with ischaemic digits, preceded by a 6-month history of Raynaud's phenomenon affecting her fingers and toes. There were no clinical or laboratory features of primary vasculitis or connective tissue disease, Doppler imaging was normal, and bloods were unremarkable aside from a platelet count of 786 × 109/L (150-400) and white cells of 16 × 109/L (4-11). In view of the thrombocytosis a JAK2 mutation assay was requested which confirmed a JAK2 V617F mutation, suggesting essential thrombocytosis (ET) as the cause...
2016: Case Reports in Medicine
https://www.readbyqxmd.com/read/27894387/-effect-of-hydrocinnamoyl-l-valyl-pyrrolidine-on-healing-quality-of-deep-partial-thickness-scald-wound-in-mice
#5
M L Yang, Y H Li, Q Tan, J T Li, L L Que
Objective: To observe the effect of Toll interleukin-1 recptor homology/BB-loop mimetic hydrocinnamoyl-L-valyl pyrrolidine (AS-1) on the healing quality of deep partial-thickness scald wound in mice. Methods: Forty-two adult C57BL/6 mice were divided into sham injury group (SI), scald group (S), early AS-1 treatment group (EAT), early dimethyl sulfoxide (DMSO) control group (EDC), late AS-1 treatment group (LAT), late DMSO control group (LDC) according to the random number table, with 7 mice in each group. Mice in group SI were sham injured without other treatment...
November 20, 2016: Zhonghua Shao Shang za Zhi, Zhonghua Shaoshang Zazhi, Chinese Journal of Burns
https://www.readbyqxmd.com/read/27893734/an-ipsc-derived-vascular-model-of-marfan-syndrome-identifies-key-mediators-of-smooth-muscle-cell-death
#6
Alessandra Granata, Felipe Serrano, William George Bernard, Madeline McNamara, Lucinda Low, Priya Sastry, Sanjay Sinha
Marfan syndrome (MFS) is a heritable connective tissue disorder caused by mutations in FBN1, which encodes the extracellular matrix protein fibrillin-1. To investigate the pathogenesis of aortic aneurysms in MFS, we generated a vascular model derived from human induced pluripotent stem cells (MFS-hiPSCs). Our MFS-hiPSC-derived smooth muscle cells (SMCs) recapitulated the pathology seen in Marfan aortas, including defects in fibrillin-1 accumulation, extracellular matrix degradation, transforming growth factor-β (TGF-β) signaling, contraction and apoptosis; abnormalities were corrected by CRISPR-based editing of the FBN1 mutation...
November 28, 2016: Nature Genetics
https://www.readbyqxmd.com/read/27889928/elucidating-the-role-of-cyclooxygenase-2-in-the-pathogenesis-of-oral-lichen-planus-an-immunohistochemical-study-with-supportive-histochemical-analysis
#7
Pratyush Singh, Jasleen Grover, Aditi Amit Byatnal, Vasudeva Guddattu, Raghu Radhakrishnan, Monica Charlotte Solomon
OBJECTIVE: Oral lichen planus (OLP) is a chronic, inflammatory disorder that affects the oral mucous membrane. During an inflammatory response, several chemokines and cytokines are released by the cells of the immune system. Activation of MMPs, along with mast cell-derived chymase and tryptase, degrades the basement membrane structural proteins, resulting in basement membrane breaks. AIM: To investigate the association between the COX-2 expressions, presence of intact or degranulating mast cells within the connective tissue and the extent of basement membrane discontinuity in OLP cases...
November 7, 2016: Journal of Oral Pathology & Medicine
https://www.readbyqxmd.com/read/27885708/oldest-medical-description-of-osteogenesis-imperfecta-17th-century-france
#8
Philippe Charlier, Antonio Perciaccante, Raffaella Bianucci
Osteogenesis imperfecta (OI), also known as Lobstein's syndrome or Vrolik's syndrome, comprises a heterogeneous group of rare genetic connective tissue disorders. It is characterized by increased bone fragility, low bone mass, and susceptibility to bone fractures of variable severity. Originally named "osteomalacia congenita," the condition was first medically described in a family by Ekman in 1778. Here, we report a 17th century medical account from France, which predates Eckman's doctoral dissertation by about a century...
November 7, 2016: Clinical Anatomy
https://www.readbyqxmd.com/read/27878658/role-of-matricellular-proteins-in-disorders-of-the-central-nervous-system
#9
A R Jayakumar, A Apeksha, M D Norenberg
Matricellular proteins (MCPs) are actively expressed non-structural proteins present in the extracellular matrix, which rapidly turnover and possess regulatory roles, as well as mediate cell-cell interactions. MCPs characteristically contain binding sites for other extracellular proteins, cell surface receptors, growth factors, cytokines and proteases, that provide structural support for surrounding cells. MCPs are present in most organs, including brain, and play a major role in cell-cell interactions and tissue repair...
November 23, 2016: Neurochemical Research
https://www.readbyqxmd.com/read/27875630/eosinophilic-fasciitis-with-subjacent-myositis
#10
Julia B Whitlock, Elliot L Dimberg, Duygu Selcen, Devon I Rubin
Introduction Eosinophilic fasciitis (EF) is a rare disorder that can present with muscle symptoms that mimic other neuromuscular diseases. Methods We report a 43-year-old woman with chronic muscle aches, tightness, and stiffness with hypertrophied, well-defined muscles despite physical inactivity, and thickened skin with reduced elasticity and discoloration. Results Except for mild peripheral eosinophilia, laboratory studies, including blood count, electrolytes, paraneoplastic panel, muscle enzymes, thyroid function, and serum protein electrophoresis were normal...
November 22, 2016: Muscle & Nerve
https://www.readbyqxmd.com/read/27868174/-acromegaly-recognition-of-a-rare-disease-in-psychiatric-practice
#11
A J de Kort, D Postulart, G A A M Wetzer, S H P P Roerink
Acromegaly is a rare disease which is caused by a tumour in the anterior lobe of the pituitary gland. The tumour stimulates excessive production of the growth hormone. As a result, all the organs and tissues in the body are induced to grow. This growth is responsible for a wide range of symptoms, some of which can be neuro-psychiatric.<br/> AIM: To promote the early detection of acromegaly so that treatment can be started as soon as possible and further damage can be prevented.<br/> METHOD: We searched PubMed for articles relating to quality of life and cognitive, psychological and psychiatric symptoms and personality changes associated with acromegaly...
2016: Tijdschrift Voor Psychiatrie
https://www.readbyqxmd.com/read/27866790/mitral-repair-in-children-with-connective-tissue-disorders-on%C3%A2-the-edge-over-the-edge-or-edge-to-edge
#12
EDITORIAL
Edward Buratto, Xin Tao Ye, Igor E Konstantinov
No abstract text is available yet for this article.
October 26, 2016: Journal of Thoracic and Cardiovascular Surgery
https://www.readbyqxmd.com/read/27863509/profibrotic-mediators-in-tendon-disease-a-systematic-review
#13
Wataru Morita, Sarah Jane Bothwell Snelling, Stephanie Georgina Dakin, Andrew Jonathan Carr
BACKGROUND: Tendon disease is characterized by the development of fibrosis. Transforming growth factor beta (TGF-β), bone morphogenic proteins (BMPs) and connective tissue growth factor (CTGF) are key mediators in the pathogenesis of fibrotic disorders. The aim of this systematic review was to investigate the evidence for the expression of TGF-β, BMPs and CTGF along tendon disease progression and the response of tendon cells to these growth factors accordingly. METHOD: We conducted a systematic screen of the scientific literature using the Medline database...
November 18, 2016: Arthritis Research & Therapy
https://www.readbyqxmd.com/read/27863377/variable-patterns-of-ectopic-mineralization-in-enpp1asj-2j-mice-a-model-for-generalized-arterial-calcification-of-infancy
#14
Sarah Y Siu, Nathaniel A Dyment, David W Rowe, John P Sundberg, Jouni Uitto, Qiaoli Li
Generalized arterial calcification of infancy (GACI) is an autosomal recessive disorder characterized by early onset of extensive mineralization of the cardiovascular system. The classical forms of GACI are caused by mutations in the ENPP1 gene, encoding a membrane-bound pyrophosphatase/phosphodiesterase that hydrolyzes ATP to AMP and inorganic pyrophosphate. The asj-2J mouse harboring a spontaneous mutation in the Enpp1 gene has been characterized as a model for GACI. These mutant mice develop ectopic mineralization in skin and vascular connective tissues as well as in cartilage and collagen-rich tendons and ligaments...
November 14, 2016: Oncotarget
https://www.readbyqxmd.com/read/27860332/ezetimibe-use-costs-and-adverse-events-in-australia
#15
Samantha A Hollingworth, Remo Ostino, Michael C David, Jennifer H Martin, Susan E Tett
AIM: To analyse the subsidised use and reported adverse events of ezetimibe, used to lower cholesterol, in Australia over the 11 years following its inclusion on the Pharmaceutical Benefits Scheme (PBS) in 2004. METHODS: Pharmacoepidemiological analysis of dispensed prescriptions from Medicare Australia. Adverse event data were obtained from the Therapeutic Goods Administration. Use was measured by the defined daily dose (DDD) per 1,000 population per day for each calendar year...
November 17, 2016: Cardiovascular Therapeutics
https://www.readbyqxmd.com/read/27859306/multiple-giant-coronary-artery-aneurysms-a-rare-cause-of-sudden-cardiac-death
#16
Martin Janík, Petr Hejna, Michaela Ublová, Ivo Šteiner
Multiple giant aneurysms involving the coronary arteries are uncommon and rarely reported. In the presented case, a 63-year-old man with poorly controlled hypertension died suddenly. Gross autopsy examination showed multiple giant thrombus-filled coronary artery aneurysms, atherosclerotic coronary artery disease, and cardiomegaly. Histological sections of the coronary aneurysms showed atherosclerotic changes with both organized and fresh thrombus. Giant coronary aneurysm is defined as a segmental enlargement of a coronary artery with a diameter exceeding 20 mm or more...
November 11, 2016: Journal of Forensic Sciences
https://www.readbyqxmd.com/read/27857524/assessment-of-the-relationship-between-periodontal-disease-and-cardiovascular-disorders-a-questionnaire-based-study
#17
Anca Ionel, Ondine Lucaciu, Cosmina Bondor, Minodora Moga, Aranka Ilea, Claudia Feurdean, Dan Buhăţel, Lucia Hurubeanu, Radu Septimiu Câmpian
BACKGROUND AND AIMS: Periodontitis is an inflammatory disease, characterized by the loss of connective tissue and alveolar bone. There is an increasing evidence that periodontitis is associated with a number of chronic diseases. The aim of this study was to analyze the correlation between periodontitis and certain systemic diseases by identifying their risk factors in a population from North-West Romania. METHODS: A questionnaire-based study was conducted on participants ≥45 years of age in 4 dentistry or family medicine practices from the Cluj and Bihor counties, Romania, over a time frame spanning two months...
2016: Clujul Medical (1957)
https://www.readbyqxmd.com/read/27855040/claims-based-diagnostic-patterns-of-patients-evaluated-for-lyme-disease-and-given-extended-antibiotic-therapy
#18
Yi-Ju Tseng, Alfred DeMaria, Donald A Goldmann, Kenneth D Mandl
BACKGROUND: A Lyme disease (LD) diagnosis can be far from straightforward, particularly if erythema migrans does not develop or is not noticed. Extended courses of antibiotics for LD are not recommended, but their use is increasing. We sought to elucidate the patient patterns toward a diagnosis of LD, hypothesizing that a subset of patients ultimately receiving extended courses antibiotics may be symptomatic for an extended period before the first LD diagnosis. METHODS: Claims submitted to a nationwide U...
November 17, 2016: Vector Borne and Zoonotic Diseases
https://www.readbyqxmd.com/read/27854110/association-between-carotid-artery-tortuosity-and-carotid-dissection-a-case-control-study
#19
Sarasa T Kim, Waleed Brinjikji, Vance T Lehman, Carrie M Carr, Patrick H Luetmer, Charlotte H Rydberg
BACKGROUND: Carotid artery dissections have long been associated with compromise of the structural integrity of the arterial wall from heritable connective-tissue disorders, hypertension, and trauma. However, an association between spontaneous internal carotid artery dissection and tortuous or redundant carotid anatomy has not been fully explored. METHODS: Patients with CTA confirmed spontaneous cervical internal carotid artery dissections were compared to a group of age and sex matched controls who also received CTA of the neck...
November 17, 2016: Journal of Neurosurgical Sciences
https://www.readbyqxmd.com/read/27851781/characterization-of-a-novel-dermal-fibrosis-model-induced-by-areca-nut-extract-that-mimics-oral-submucous-fibrosis
#20
Min-Hsuan Chiang, Ping-Ho Chen, Yuk-Kwan Chen, Chia-Hsin Chen, Mei-Ling Ho, Yan-Hsiung Wang
Oral submucous fibrosis (OSF) is an oral potentially malignant disorder and areca quid chewing is the main etiological factor. However, the molecular mechanism underlying OSF remains unclear, partly due to the lack of an appropriate animal model. The present study aimed to establish and characterize an animal model of areca nut extract (ANE)-induced skin fibrosis that mimics OSF. Mice were divided into 4 groups: the control group; the bleomycin group; and the ANE10 and ANE20 groups, which received 10mg/ml and 20mg/ml subcutaneous (SC) injection of ANE, respectively...
2016: PloS One
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