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Connective tissue disorders

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https://www.readbyqxmd.com/read/27931995/descriptive-epidemiology-of-deployment-related-medical-conditions-and-shipboard-training-related-injuries-in-a-chinese-navy-population
#1
R-R Qi, J-Q Wang, L-L Pan, W Zhou, J-L Liu, J-T Ju, Y-L Cai
OBJECTIVES: To investigate the deployment-related medical conditions and shipboard tactical training-related injuries in a Chinese Navy population. STUDY DESIGN: A retrospective study with the Chinese Navy was conducted. METHODS: The medical records of 1543 Navy crewmembers from 2011 to 2015 were collected. The distribution and incidence rate (IR) of different types of medical conditions were provided and compared between the Aden Gulf deployment and nondeployment periods...
December 2016: Public Health
https://www.readbyqxmd.com/read/27931013/the-influence-of-ehlers-danlos-syndrome-hypermobility-type-on-motherhood-a-phenomenological-hermeneutical-study
#2
Stijn De Baets, Marieke Vanhalst, Marieke Coussens, Lies Rombaut, Fransiska Malfait, Geert Van Hove, Patrick Calders, Guy Vanderstraeten, Dominique van de Velde
BACKGROUND: The consequences of the Ehlers-Danlos Syndrome hypermobility type (EDS-HT) affect many aspects of daily life. "Living with limitations" is a central theme in the life of patients affected by this heritable disorder of connective tissue. The aim of the present study was to explore the lived experiences of women with EDS-HT concerning diagnosis, influence on daily life and becoming and being a mother. METHOD: A phenomenological-hermeneutical study, using in-depth interviews...
December 5, 2016: Research in Developmental Disabilities
https://www.readbyqxmd.com/read/27928398/high-myopia-associated-with-triple-x-syndrome
#3
Tomo Nishi, Nahoko Ogata
We report our findings in a 3-year-old girl who was suspected of having triple X syndrome because she was taller than +4.35 standard deviations for her age. She also had high myopia. Optical coherence tomography (OCT) showed that her retinas were thin, the lenses were subluxated, and the axial length was elongated. Our findings indicate that for a female child with tall stature, there should be thorough evaluations for endocrinological disorders, overgrowth syndromes, connective tissue disorders, and genetic disorders...
June 2016: Neuro-ophthalmology
https://www.readbyqxmd.com/read/27927085/increased-vascular-occlusion-in-patients-with-pseudoxanthoma-elasticum
#4
Simon Pingel, Kristin Solveig Pausewang, Sebastian Gorgonius Passon, Anna Katharina Blatzheim, Martin Gliem, Peter Charbel Issa, Doris Hendig, Fritz Horlbeck, Izabela Tuleta, Georg Nickenig, Nadjib Schahab, Dirk Skowasch, Christian Alexander Schaefer
BACKGROUND: Pseudoxanthoma elasticum (PXE) is an autosomal recessive inherited multisystem disorder of the connective tissue caused by a loss-of-function mutation of the ABCC6 gene. It can affect the cardiovascular system, presumably leading to a high prevalence of atherosclerosis. PATIENTS AND METHODS: 46 PXE patients and 18 controls underwent an angiological examination consisting of measurement of ankle-brachial index (ABI), strain-gauge arterial reserve (SGAR), arterial resting perfusion, pulse wave index (PWI), central pulse wave velocity, and ultrasound examination...
December 8, 2016: VASA. Zeitschrift Für Gefässkrankheiten
https://www.readbyqxmd.com/read/27922338/pathophysiology-of-aortic-aneurysm-insights-from-human-genetics-and-mouse-models
#5
Nicole K Wilson, Russell A Gould, Elena Gallo MacFarlane, Mibava Leducq Consortium
Aneurysms are local dilations of an artery that predispose the vessel to sudden rupture. They are often asymptomatic and undiagnosed, resulting in a high mortality rate. The predisposition to develop thoracic aortic aneurysms is often genetically inherited and associated with syndromes affecting connective tissue homeostasis. This review discusses how elucidation of the genetic causes of syndromic forms of thoracic aortic aneurysm has helped identify pathways that contribute to disease progression, including those activated by TGF-β, angiotensin II and Notch ligands...
December 6, 2016: Pharmacogenomics
https://www.readbyqxmd.com/read/27920288/familial-occurrence-and-heritable-connective-tissue-disorders-in-cervical-artery-dissection
#6
(no author information available yet)
No abstract text is available yet for this article.
December 6, 2016: Neurology
https://www.readbyqxmd.com/read/27911810/in-vivo-bioluminescence-imaging-reveals-copper-deficiency-in-a-murine-model-of-nonalcoholic-fatty-liver-disease
#7
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
#8
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
#9
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
#10
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
#11
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
#12
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
#13
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
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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
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