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Connective tissue disorder

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https://www.readbyqxmd.com/read/29452267/git2-a-keystone-in-ageing-and-age-related-disease
#1
REVIEW
Jaana van Gastel, Jan Boddaert, Areta Jushaj, Richard T Premont, Louis M Luttrell, Jonathan Janssens, Bronwen Martin, Stuart Maudsley
Since its discovery, G protein-coupled receptor kinase-interacting protein 2, GIT2, and its family member, GIT1, have received considerable interest concerning their potential key roles in regulating multiple inter-connected physiological and pathophysiological processes. GIT2 was first identified as a multifunctional protein that is recruited to G protein-coupled receptors (GPCRs) during the process of receptor internalization. Recent findings have demonstrated that perhaps one of the most important effects of GIT2 in physiology concerns its role in controlling multiple aspects of the complex ageing process...
February 13, 2018: Ageing Research Reviews
https://www.readbyqxmd.com/read/29450629/congenital-cervical-kyphosis-in-an-infant-with-ehlers-danlos-syndrome
#2
Andrew J Kobets, Daniel Komlos, John K Houten
BACKGROUND: Ehler-Danlos syndome (EDS) refers to a group of heritable connective tissue disorders; rare manifestations of which are cervical kyphosis and clinical myelopathy. Surgical treatment is described for the deformity in the thoracolumbar spine in adolescents but not for infantile cervical spine. Internal fixation for deformity correction in the infantile cervical spine is challenging due to the diminutive size of the bony anatomy and the lack of spinal instrumentation specifically designed for young children...
February 15, 2018: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/29447658/primary-anetoderma-with-undifferentiated-connective-tissue-disease
#3
Lana X Tong, Jenna Beasley, Shane Meehan, Evan Rieder, Miriam Pomeranz, Kristen Lo Sicco, Alisa Femia, Randie Kim, Andrew G Franks
Anetoderma is a rare benign elastolytic disorder that is characterized by focal loss of elastin fibers on histopathology and is often recalcitrant to treatment. We present a case of a patient with a 20-year history of pruritic and painful hyperpigmented atrophic papules clustered on the neck, axillae, inframammary folds, and right medial thigh. Although the histopathologyof her axillary lesions was consistent with anetoderma, her clinical presentation is unusual given the extent of involvement, reported pain and pruritus, and sharp demarcation of the distribution...
December 15, 2017: Dermatology Online Journal
https://www.readbyqxmd.com/read/29446032/attention-deficit-hyperactivity-disorder-joint-hypermobility-related-disorders-and-pain-expanding-body-mind-connections-to-the-developmental-age
#4
REVIEW
Carolina Baeza-Velasco, Lorenzo Sinibaldi, Marco Castori
Attention-deficit/hyperactivity disorder (ADHD) and generalized joint hypermobility (JH) are two separated conditions, assessed, and managed by different specialists without overlapping interests. Recently, some researchers highlighted an unexpected association between these two clinical entities. This happens in a scenario of increasing awareness on the protean detrimental effects that congenital anomalies of the connective tissue may have on human health and development. To review pertinent literature to identify possible connections between ADHD and GJH, special emphasis was put on musculoskeletal pain and syndromic presentations of GJH, particularly the hypermobile Ehlers-Danlos syndrome...
February 14, 2018: Attention Deficit and Hyperactivity Disorders
https://www.readbyqxmd.com/read/29442321/zic-genes-in-teleosts-their-roles-in-dorsoventral-patterning-in-the-somite
#5
Kota Abe, Toru Kawanishi, Hiroyuki Takeda
The medaka contains seven zic genes, two of which, zic1 and zic4, have been studied extensively. The analyses are mainly based on the double anal fin (Da) mutant, which was isolated from the wild. Da is an enhancer mutant of zic1/zic4, and the expression of zic1/zic4 is specifically lost in the dorsal half of the somites, which leads to a mirror-image duplication of the ventral half across the lateral midline from larva to adult. The studies of medaka Da give us important insights into the function of zic1/zic4 in mesodermal tissues and also the mechanism of dorsoventral patterning in the vertebrate trunk region occurring during late development, which is a long-standing mystery in developmental biology...
2018: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/29441713/human-expression-patterns-qualitative-and-quantitative-analysis-of-thrombospondin-1-under-physiological-and-pathological-conditions
#6
REVIEW
Chen Zhao, Jeffrey S Isenberg, Aleksander S Popel
Thrombospondin-1 (TSP-1), a matricellular protein and one of the first endogenous anti-angiogenic molecules identified, has long been considered a potent modulator of human diseases. While the therapeutic effect of TSP-1 to suppress cancer was investigated in both research and clinical settings, the mechanisms of how TSP-1 is regulated in cancer remain elusive, and the scientific answers to the question of whether TSP-1 expressions can be utilized as diagnostic or prognostic marker for patients with cancer are largely inconsistent...
February 14, 2018: Journal of Cellular and Molecular Medicine
https://www.readbyqxmd.com/read/29441298/acquired-cutis-laxa-associated-with-light-and-heavy-chain-deposition-disease
#7
Reena A Majithia, Leni George, Meera Thomas, N A Fouzia
Acquired cutis laxa (ACL) is a rare connective tissue disorder characterized by pendulous and coarsely wrinkled skin. There have been few cases of its association to monoclonal immunoglobulin deposition disease (MIDD), which constitutes the light chain (LCDD), heavy chain (HCDD), and light and heavy chain (LHCDD) deposition disease. MIDD predominantly involves the kidney. Skin is the next common organ to be affected by HCDD, which presents as ACL. We report the case of a 40-year-old male who presented with ACL associated with LHCDD...
January 2018: Indian Dermatology Online Journal
https://www.readbyqxmd.com/read/29441167/is-this-a-worrisome-red-eye-episcleritis-in-the-primary-care-setting
#8
Amr Salama, Arwa Elsheikh, Richard Alweis
Episcleritis is the inflammation of the thin, loose, highly vascular connective tissue layer that lies between the conjunctiva and sclera. Incidence is less than 1/1000. It is more common in women and those between 40 and 50 years of age. Most cases are idiopathic. It is classified into simple and nodular. Most attacks resolve within 1-3 months. The nodular type tends to be more recurrent and painful. It presents with acute onset of redness, lacrimation, and photophobia. The diagnosis of is essentially clinical, and eye pain or tenderness should raise the concern for scleritis...
2018: Journal of Community Hospital Internal Medicine Perspectives
https://www.readbyqxmd.com/read/29438595/effects-of-early-alcohol-exposure-on-functional-organization-and-microstructure-of-a-visual-tactile-integrative-circuit
#9
Shiyu Tang, Su Xu, Rao P Gullapalli, Alexandre E Medina
BACKGROUND: Children with fetal alcohol spectrum disorders (FASD) often have deficits associated with multisensory processing. Because ethanol disrupts activity-dependent neuronal plasticity, a process that is essential for refining connections during cortical development, we hypothesize that early alcohol exposure results in alterations in multisensory cortical networks, which could explain the multisensory processing deficits seen in FASD. Here, we use a gyrencephalic animal model to test the prediction that early alcohol exposure alters the functional connectivity and microstructural features of the rostral posterior parietal cortex (PPr), a visual-tactile integrative area...
February 13, 2018: Alcoholism, Clinical and Experimental Research
https://www.readbyqxmd.com/read/29435856/modern-theories-of-pelvic-floor-support-a-topical-review-of-modern-studies-on-structural-and-functional-pelvic-floor-support-from-medical-imaging-computational-modeling-and-electromyographic-perspectives
#10
REVIEW
Yun Peng, Brandi D Miller, Timothy B Boone, Yingchun Zhang
PURPOSE OF REVIEW: Weakened pelvic floor support is believed to be the main cause of various pelvic floor disorders. Modern theories of pelvic floor support stress on the structural and functional integrity of multiple structures and their interplay to maintain normal pelvic floor functions. Connective tissues provide passive pelvic floor support while pelvic floor muscles provide active support through voluntary contraction. Advanced modern medical technologies allow us to comprehensively and thoroughly evaluate the interaction of supporting structures and assess both active and passive support functions...
February 12, 2018: Current Urology Reports
https://www.readbyqxmd.com/read/29425543/-digital-ischemia-revealing-multiple-myeloma
#11
Z Khammar, M Ouazzani, B Bennani, N Oubelkacem, R Berrady
Digital ulcers generally arise in a context of microangiopathy-related focal ischemia. In women, connective tissue diseases are the main etiology, while in men the cause is often diffuse arterial disease, e.g. Leo-Buerger disease, or emboligenic heart disease. A paraneoplastic origin of digital necrosis due to ischemia is rarely reported. A 75-year-old man presented with cyanosis of the fingertips and toes that had begun one month earlier. The physical examination found pulp ulcers on the fingers and toes of both hands and feet...
February 2018: Journal de Médecine Vasculaire
https://www.readbyqxmd.com/read/29425538/-etiological-profile-of-secondary-raynaud-s-phenomenon-in-an-internal-medicine-department-about-121-patients
#12
T Ben Salem, M Tougorti, S Bziouech, M Lamloum, M Khanfir, I Ben Ghorbel, M H Houman
INTRODUCTION: Raynaud's phenomenon is a reversible episodic vasospastic disorder triggered by cold or emotion. Two types of Raynaud's phenomenon were distinguished: Raynaud's disease and secondary Raynaud's phenomenon. The purpose of this study was to determine the etiologic profile of secondary Raynaud's phenomenon in an internal medicine department. METHODS: A descriptive retrospective study including patients with secondary Raynaud's phenomenon followed in a tertiary internal medicine department between 2000 and 2013...
February 2018: Journal de Médecine Vasculaire
https://www.readbyqxmd.com/read/29419646/lysyl-oxidases-functions-and-disorders
#13
Fernando Rodriguez-Pascual, Tamara Rosell-Garcia
Lysyl oxidases (LOX) are copper-dependent enzymes that oxidize lysyl and hydroxylysyl residues in collagen and elastin, as a first step in the stabilization of these extracellular matrix (ECM) proteins through the formation of covalent cross-linkages, an essential process for connective tissue maturation. Five different LOX enzymes have been identified in mammals, LOX and LOX-like (LOXL) 1 to 4, being genetically different protein products with a high degree of homology in the catalytic carboxy terminal end and a more variable amino terminal pro-region...
February 6, 2018: Journal of Glaucoma
https://www.readbyqxmd.com/read/29418081/cutaneous-disorders-characterized-by-elastolysis-or-loss-of-elastic-tissue
#14
Michael Tronnier
Along with collagen, elastic fibers are integral components of cutaneous connective tissue. A decrease in elastic fibers or loss thereof has been described in a number of clinically distinct skin diseases, both hereditary and acquired. In disorders associated with inflammation, elastophagocytosis is an important histological hallmark. Treatment is generally difficult.
February 2018: Journal der Deutschen Dermatologischen Gesellschaft, Journal of the German Society of Dermatology: JDDG
https://www.readbyqxmd.com/read/29410766/implant-supported-fixed-prostheses-in-a-patient-with-osteogenesis-imperfecta-a-4-year-follow-up
#15
Mario Caicedo-Rubio, Elvira Ferrés-Amat, Eduard Ferrés-Padró
Osteogenesis Imperfecta (OI) is a rare autosomal dominant connective tissue disorder in wich, the bone quality and density is affected. OI includes some metabolic disorders and have a wide range of clinical presentations. In Osteogenesis Imperfecta bone has a very low density and it is a disorder currently treated with bisphosphonates. Quality and quantity of bone is important for establishment of osseointegration in dental implants. There are few reported cases in the literature. This is a case report of a 61 year-old man with grade IV OI, rehabilitated with implant-supported fixed prostheses in the posterior right and left mandible, whithout bone grafts...
December 2017: Journal of Clinical and Experimental Dentistry
https://www.readbyqxmd.com/read/29409971/stem-cells-and-heterotopic-ossification-lessons-from-animal-models
#16
REVIEW
John B Lees-Shepard, David J Goldhamer
Put most simply, heterotopic ossification (HO) is the abnormal formation of bone at extraskeletal sites. HO can be classified into two main subtypes, genetic and acquired. Acquired HO is a common complication of major connective tissue injury, traumatic central nervous system injury, and surgical interventions, where it can cause significant pain and postoperative disability. A particularly devastating form of HO is manifested in the rare genetic disorder, fibrodysplasia ossificans progressiva (FOP), in which progressive heterotopic bone formation occurs throughout life, resulting in painful and disabling cumulative immobility...
January 30, 2018: Bone
https://www.readbyqxmd.com/read/29407525/numerical-modeling-of-fluid-and-oxygen-exchanges-through-microcirculation-for-the-assessment-of-microcirculation-alterations-caused-by-type-2-diabetes
#17
Yuanliang Tang, Ying He
Type 2 diabetes mellitus (DM2) is frequently accompanied by microcirculation complications, including structural and functional alterations, which may have serious effects on substance exchanges between blood and interstitial tissue and the health of organs. In this paper, we aim to study the influence of microcirculation alterations in DM2 patients on fluid and oxygen exchanges through a model analysis. A fluid flow and oxygen transport model were developed by considering the interplay between blood in capillary network and interstitial tissue...
February 2, 2018: Microvascular Research
https://www.readbyqxmd.com/read/29405382/spontaneous-rupture-of-the-ascending-aorta
#18
Syed Usman Bin Mahmood, Andrew Ulrich, Basmah Safdar, Arnar Geirsson, Abeel A Mangi
BACKGROUND: Nontraumatic, spontaneous rupture of the ascending aorta is rare and the etiology is largely unknown. METHODS: We reviewed seven patients from our institution, with no known aortic disease or hereditary connective tissue disorder that presented with spontaneous ascending aortic rupture from 2012 to 2017. RESULTS: Most patients presented with non-radiating chest pain along with hypertension (71.4%). The mean ascending aortic diameter at rupture was 4...
February 6, 2018: Journal of Cardiac Surgery
https://www.readbyqxmd.com/read/29395482/podocyte-infolding-glomerulopathy-pig-in-a-patient-with-undifferentiated-connective-tissue-disease-a-case%C3%A2-report
#19
Smita Mary Matthai, Anjali Mohapatra, Ashish J Mathew, Sanjeet Roy, Santosh Varughese, Debashish Danda, Veerasamy Tamilarasi
Podocyte infolding glomerulopathy (PIG) is a recently described pathologic entity characterized by diffuse podocyte infolding into the glomerular basement membrane (GBM) associated with ultrastructurally demonstrable microspherular aggregates. The clinical features, significance, and pathogenesis of this condition are still not well delineated because only a few cases have been documented to date, all from Japan. We report a case of PIG associated with undifferentiated connective tissue disease in an Indian woman who presented with nephrotic syndrome while undergoing treatment for an autoimmune disorder...
January 27, 2018: American Journal of Kidney Diseases: the Official Journal of the National Kidney Foundation
https://www.readbyqxmd.com/read/29392890/a-mutation-update-on-the-lds-associated-genes-tgfb2-3-and-smad2-3
#20
Dorien Schepers, Giada Tortora, Hiroko Morisaki, Gretchen MacCarrick, Mark Lindsay, David Liang, Sarju G Mehta, Jennifer Hague, Judith Verhagen, Ingrid van de Laar, Marja Wessels, Yvonne Detisch, Mieke van Haelst, Annette Baas, Klaske Lichtenbelt, Kees Braun, Denise van der Linde, Jolien Roos-Hesselink, George McGillivray, Josephina Meester, Isabelle Maystadt, Paul Coucke, Elie El-Khoury, Sandhya Parkash, Birgitte Diness, Lotte Risom, Ingrid Scurr, Yvonne Hilhorst-Hofstee, Takayuki Morisaki, Julie Richer, Julie Désir, Marlies Kempers, Andrea L Rideout, Gabrielle Horne, Chris Bennett, Elisa Rahikkala, Geert Vandeweyer, Maaike Alaerts, Aline Verstraeten, Hal Dietz, Lut Van Laer, Bart Loeys
The Loeys-Dietz syndrome (LDS) is a connective tissue disorder affecting the cardiovascular, skeletal and ocular system. Most typically, LDS patients present with aortic aneurysms and arterial tortuosity, hypertelorism and bifid/broad uvula or cleft palate. Initially, mutations in transforming growth factor-β (TGF-β) receptors (TGFBR1 and TGFBR2) were described to cause LDS, hereby leading to impaired TGF-β signaling. More recently, TGF-β ligands, TGFB2 and TGFB3, as well as intracellular downstream effectors of the TGF-β pathway, SMAD2 and SMAD3, were shown to be involved in LDS...
February 1, 2018: Human Mutation
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