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https://www.readbyqxmd.com/read/29672880/enamel-renal-syndrome-case-report
#1
Luiz Henrique Soares Torres, Sérgio Lins de-Azevedo-Vaz, Danielle Resende Camisasca Barroso, Daniela Nascimento Silva, Tânia Regina Grão Velloso, Liliana Aparecida Pimenta de Barros
AIMS: to describe a case in which dental changes were observed and investigation proceeded to consider Enamel-Renal-Syndrome (ERS), a rare disorder that associates amelogenesis imperfecta with nephrocalcinosis. CASE REPORT: an 11-year-old male patient upon intraoral examination revealed generalized gingival hyperplasia, a few teeth were absent clinically and the remaining ones were yellowish-brown in color. The enamel alterations were suggesting of amelogenesis imperfecta...
April 19, 2018: Special Care in Dentistry
https://www.readbyqxmd.com/read/29671248/executive-function-and-quality-of-life-in-individuals-with-marfan-syndrome
#2
Ileana Ratiu, Thomas B Virden, Hope Baylow, Melissa Flint, Mitra Esfandiarei
PURPOSE: Marfan syndrome (MFS) is a connective tissue disorder that affects skeletal, ocular, pulmonary, cardiovascular, and central nervous systems. Psychological and physiologic symptoms may lead to diminished quality of life (QoL) in individuals with MFS compared with healthy individuals. Currently, there is little evidence regarding the impact of MFS on executive function and QoL. This study examined perceptions of executive function and QoL among persons with MFS. METHOD: A total of 318 participants with MFS completed surveys assessing perceptions of executive function abilities and QoL...
April 18, 2018: Quality of Life Research
https://www.readbyqxmd.com/read/29667129/elevation-of-mmp-9-levels-promotes-epileptogenesis-after-traumatic-brain-injury
#3
Barbara Pijet, Marzena Stefaniuk, Agnieszka Kostrzewska-Ksiezyk, Photini-Effie Tsilibary, Athina Tzinia, Leszek Kaczmarek
Posttraumatic epilepsy (PTE) is a recurrent seizure disorder that often develops secondary to traumatic brain injury (TBI) that is caused by an external mechanical force. Recent evidence shows that the brain extracellular matrix plays a major role in the remodeling of neuronal connections after injury. One of the proteases that is presumably responsible for this process is matrix metalloproteinase-9 (MMP-9). The levels of MMP-9 are elevated in rodent brain tissue and human blood samples after TBI. However, no studies have described the influence of MMP-9 on the development of PTE...
April 17, 2018: Molecular Neurobiology
https://www.readbyqxmd.com/read/29665811/recombinant-mouse-periostin-ameliorates-coronal-sutures-fusion-in-twist1-mice
#4
Shanshan Bai, Dong Li, Liang Xu, Huichuan Duan, Jie Yuan, Min Wei
BACKGROUND: Saethre-Chotzen syndrome is an autosomal dominantly inherited disorder caused by mutations in the twist family basic helix-loop-helix transcription factor 1 (TWIST1) gene. Surgical procedures are frequently required to reduce morphological and functional defects in patients with Saethre-Chotzen syndrome. Therefore, the development of noninvasive procedures to treat Saethre-Chotzen syndrome is critical. We identified that periostin, which is an extracellular matrix protein that plays an important role in both bone and connective tissues, is downregulated in craniosynostosis patients...
April 17, 2018: Journal of Translational Medicine
https://www.readbyqxmd.com/read/29664231/oxidative-stress-in-the-pathogenesis-of-systemic-scleroderma-an-overview
#5
REVIEW
Rosa Vona, Antonello Giovannetti, Lucrezia Gambardella, Walter Malorni, Donatella Pietraforte, Elisabetta Straface
Systemic sclerosis (SSc) is a rare disorder of the connective tissue characterized by fibrosis of the skin, skeletal muscles and visceral organs. Additional manifestations include activation of the immune system and vascular injury. SSc causes disability and death as the result of end-stage organ failure. Two clinical subsets of the SSc are accepted: limited cutaneous SSc (lc-SSc) and diffuse cutaneous SSc (dc-SSc). At present, the aetiology and pathogenesis of SSc remain obscure, and consequently, disease outcome is unpredictable...
April 17, 2018: Journal of Cellular and Molecular Medicine
https://www.readbyqxmd.com/read/29644033/a-case-of-dupuytren-s-disease-managed-with-viable-cryopreserved-placental-membrane-adjunct-to-open-palmar-fasciectomy
#6
Christopher M Dress, Elisabet K Tassis
Dupuytren's disease (DD) is a rare connective tissue disorder resulting in progressive fibrosis and thickening of the palmar fascia, and contracture of the fingers due to excessive collagen deposition. Staged surgical interventions are reserved for severe cases, yet worsening of fibrosis and contracture of fingers post-surgery, has been reported to have a recurrence rate as high as 85%. Here, the authors report on use of viable cryopreserved placental membrane (vCPM) allograft as an adjunct to open fasciectomy...
March 2018: Journal of Surgical Case Reports
https://www.readbyqxmd.com/read/29627521/epidermolysis-bullosa-molecular-pathology-of-connective-tissue-components-in-the-cutaneous-basement-membrane-zone
#7
REVIEW
Cristina Has, Alexander Nyström, Amir Hossain Saeidian, Leena Bruckner-Tuderman, Jouni Uitto
Epidermolysis bullosa (EB), a group of heritable skin fragility disorders, is characterized by blistering, erosions and chronic ulcers in the skin and mucous membranes. In some forms, the blistering phenotype is associated with extensive mutilating scarring and development of aggressive squamous cell carcinomas. The skin findings can be associated with extracutaneous manifestations in the ocular as well as gastrointestinal and vesico-urinary tracts. The phenotypic heterogeneity reflects the presence of mutations in as many as 20 different genes expressed in the cutaneous basement membrane zone, and the types and combinations of the mutations and their consequences at the mRNA and protein levels contribute to the spectrum of severity encountered in different subtypes of EB...
April 5, 2018: Matrix Biology: Journal of the International Society for Matrix Biology
https://www.readbyqxmd.com/read/29625183/extracellular-matrix-the-driving-force-of-mammalian-diseases
#8
REVIEW
Renato V Iozzo, Maria A Gubbiotti
Like the major theme of a Mozart concerto, the immense and pervasive extracellular matrix drives each movement and ultimately closes the symphony, embracing a unique role as the fundamental mediator for most, if not all, ensuing intracellular events. As such, it comes as no surprise that the mechanism of just about every known disease can be traced back to some part of the matrix, typically in the form of an abnormal amount or activity level of a particular matrix component. These defects considerably affect downstream signaling axes leading to overt cellular dysfunction, organ failure, and death...
April 3, 2018: Matrix Biology: Journal of the International Society for Matrix Biology
https://www.readbyqxmd.com/read/29623400/biomechanical-properties-of-the-patellar-tendon-in-children-with-heritable-connective-tissue-disorders
#9
Jacob K Jensen, Rie H Nygaard, Rene B Svensson, Hanne D Hove, S Peter Magnusson, Michael Kjær, Christian Couppé
PURPOSE: Hereditary connective tissue disorders (HCTDs), such as classic Ehlers-Danlos syndrome (cEDS) and Marfan syndrome (MS) share overlapping features like hypermobility and tissue fragility. In clinical practice it remains a challenge to distinguish children and adolescents with HCTD from healthy children. The purpose of this study was to investigate the biomechanical properties of the patellar tendon and joint laxity (Beighton score) in children with HCTDs (n = 7) compared to healthy controls (n = 14)...
April 5, 2018: European Journal of Applied Physiology
https://www.readbyqxmd.com/read/29618070/congenital-dermal-sinus-and-limited-dorsal-myeloschisis-spectrum-disorders-of-incomplete-dysjuction-between-cutaneous-and-neural-ectoderms
#10
Ji Yeoun Lee, Sung-Hye Park, Sangjoon Chong, Ji Hoon Phi, Seung-Ki Kim, Byung-Kyu Cho, Kyu-Chang Wang
BACKGROUND: The existence of tethering tracts in spinal dysraphism, other than congenital dermal sinus (CDS), has been recognized and has been summated into an integrated concept of limited dorsal myeloschisis (LDM). OBJECTIVE: To elucidate the underlying embryology of LDM in relation to CDS by focusing on the pathological features of special cases of tethering tracts. METHODS: Out of 389 spinal dysraphism patients who were operated on from 2010 to 2016, 5 patients who had tethering tracts composed of both CDS and LDM (or "probable LDM" if only fibrous tissue was found) were identified...
March 29, 2018: Neurosurgery
https://www.readbyqxmd.com/read/29617906/congenital-dermal-sinus-and-limited-dorsal-myeloschisis-spectrum-disorders-of-incomplete-dysjuction-between-cutaneous-and-neural-ectoderms
#11
Ji Yeoun Lee, Sung-Hye Park, Sangjoon Chong, Ji Hoon Phi, Seung-Ki Kim, Byung-Kyu Cho, Kyu-Chang Wang
BACKGROUND: The existence of tethering tracts in spinal dysraphism, other than congenital dermal sinus (CDS), has been recognized and has been summated into an integrated concept of limited dorsal myeloschisis (LDM). OBJECTIVE: To elucidate the underlying embryology of LDM in relation to CDS by focusing on the pathological features of special cases of tethering tracts. METHODS: Out of 389 spinal dysraphism patients who were operated on from 2010 to 2016, 5 patients who had tethering tracts composed of both CDS and LDM (or "probable LDM" if only fibrous tissue was found) were identified...
March 29, 2018: Neurosurgery
https://www.readbyqxmd.com/read/29616157/erosive-benign-fibro-osseous-lesion-of-the-external-auditory-canal
#12
Ganesh Vihapure, Vivek Dokania, Nimish Thakral
The term fibro-osseous lesion encompasses a spectrum of disorders ranging from inflammatory to neoplastic that microscopically exhibit a connective tissue matrix containing formless trabeculae of compact bone. Characteristically, they are located over healthy bone, from which they are abruptly differentiated. The majority of the lesions arise from the maxillofacial region; the occurrence of a lesion in the external auditory canal (EAC) being extremely rare as is in our case. The lesions present with a range of symptoms ranging from conductive hearing loss, Eustachian tube obstruction to bone erosion that develop due to the mass effect...
February 1, 2018: Curēus
https://www.readbyqxmd.com/read/29614774/the-brain-intestinal-mucosa-appendix-microbiome-brain-loop
#13
Luis Vitetta, Gemma Vitetta, Sean Hall
The brain and the gut are connected from early fetal life. The mother's exposure to microbial molecules is thought to exert in utero developmental effects on the fetus. These effects could importantly underpin the groundwork for subsequent pathophysiological mechanisms for achieving immunological tolerance and metabolic equilibrium post birth, events that continue through to 3-4 years of age. Furthermore, it is understood that the microbiome promotes cues that instruct the neonate's mucosal tissues and skin in the language of molecular and cellular biology...
April 1, 2018: Diseases (Basel)
https://www.readbyqxmd.com/read/29611890/biocompatibility-of-injectable-resilin-based-hydrogels
#14
Linqing Li, Jeanna M Stiadle, Elizabeth E Levendoski, Hang K Lau, Susan L Thibeault, Kristi L Kiick
Vocal folds are connective tissues housed in the larynx, which can be subjected to various injuries and traumatic stimuli that lead to aberrant tissue structural alterations and fibrotic-induced biomechanical stiffening observed in patients with voice disorders. Much effort has been devoted to generate soft biomaterials that are injectable directly to sites of injury. To date, materials applied toward these applications have been largely focused on natural extracellular matrix (ECM)-derived materials such as collagen, fibrin or HA; these approaches have suffered from the fact that materials are not sufficiently robust mechanically nor offer sufficient flexibility to modulate material properties for targeted injection...
April 3, 2018: Journal of Biomedical Materials Research. Part A
https://www.readbyqxmd.com/read/29608126/gender-differences-in-the-prevalence-of-fibromyalgia-and-in-concomitant-medical-and-psychiatric-disorders-a-national-veterans-health-administration-study
#15
Caroline A Arout, Mehmet Sofuoglu, Lori A Bastian, Robert A Rosenheck
BACKGROUND: Fibromyalgia is a poorly understood, chronically disabling pain syndrome. While research has focused on its clinical presentation and treatment, less is known about fibromyalgia's clinical epidemiology in real-world healthcare systems. Gender differences have been difficult to study because relatively few males are diagnosed with fibromyalgia. METHODS: Veterans Health Administration (VHA) patients diagnosed with fibromyalgia nationwide in FY 2012 were compared to Veterans with other pain diagnoses on sociodemographic characteristics, medical and psychiatric diagnoses, health service use, and opioid and psychotropic prescription fills...
April 2, 2018: Journal of Women's Health
https://www.readbyqxmd.com/read/29606859/-ppargamma-2-and-adrb3-polymorphisms-in-connective-tissue-diseases-and-lipid-disorders
#16
Bogna Grygiel-Górniak, Iwona Ziółkowska-Suchanek, Elżbieta Kaczmarek, Maria Mosor, Jerzy Nowak, Mariusz Puszczewicz
Background: The aim of the research genetic study was to investigate the association between variants (C1431T and Pro12Ala) of the peroxisome proliferator-activated receptor ( PPARgamma-2 ) gene, Trp64Arg polymorphism of the beta-3-adrenergic receptor gene and lipid profile in Polish population including group of 103 patients with connective tissue disease (CTD) and 103 sex-and age-matched controls in context of statin use. Methods: Anthropometric and biochemical parameters were measured by routine methods, followed by genotyping (TagMan® Genotyping Assays, PCR-restriction fragment length polymorphism analysis)...
2018: Clinical Interventions in Aging
https://www.readbyqxmd.com/read/29601564/-nintedanib-in-the-treatment-of-fibrosing-interstital-lung-diseases
#17
REVIEW
Katarzyna Lewandowska
Nintedanib is an intracellular tyrosine kinase inhibitor approved in a treatment of idiopathic pulmonary fibrosis. It reduces the annual rate of forced vital capacity decline by approximately 50%, that results in slowing of disease progression. The drug also reduces the incidence of acute exacerbations of idiopathic pulmonary fibrosis. The efficacy of nintedanib was the same in different groups of patients, irrespectively to disease status, age, gender and race. The most frequent side effects were gastrointestinal, i...
March 27, 2018: Polski Merkuriusz Lekarski: Organ Polskiego Towarzystwa Lekarskiego
https://www.readbyqxmd.com/read/29599822/novel-phenotype-of-5p13-3-q11-2-duplication-resulting-from-supernumerary-marker-chromosome-5-implications-for-management-and-genetic-counseling
#18
Margaret E Armstrong, David D Weaver, Melissa D Lah, Gail H Vance, Benjamin J Landis, Stephanie M Ware, Benjamin M Helm
Background: Supernumerary marker chromosomes derived from chromosome 5 (SMC5) and 5p13 duplication syndrome are rare disorders, and phenotypic descriptions of patients are necessary to better define genotype-phenotype correlations for accurate, comprehensive genetic counseling. The purpose of this study is to highlight the unique findings of a patient with a 5p13.3-q11.2 duplication arising from a SMC5 and compare and contrast the phenotype with cases in the literature. Case presentation: We report on an adult male with a 22 Mb duplication of chromosome 5p13...
2018: Molecular Cytogenetics
https://www.readbyqxmd.com/read/29593681/intestinal-microbiota-influences-non-intestinal-related-autoimmune-diseases
#19
REVIEW
Maria C Opazo, Elizabeth M Ortega-Rocha, Irenice Coronado-Arrázola, Laura C Bonifaz, Helene Boudin, Michel Neunlist, Susan M Bueno, Alexis M Kalergis, Claudia A Riedel
The human body is colonized by millions of microorganisms named microbiota that interact with our tissues in a cooperative and non-pathogenic manner. These microorganisms are present in the skin, gut, nasal, oral cavities, and genital tract. In fact, it has been described that the microbiota contributes to balancing the immune system to maintain host homeostasis. The gut is a vital organ where microbiota can influence and determine the function of cells of the immune system and contributes to preserve the wellbeing of the individual...
2018: Frontiers in Microbiology
https://www.readbyqxmd.com/read/29593477/novel-nonsense-mutation-in-slc39a13-initially-presenting-as-myopathy-case-report-and-review-of-the-literature
#20
Maja Dusanic, Gabriele Dekomien, Thomas Lücke, Matthias Vorgerd, Joachim Weis, Joerg T Epplen, Cornelia Köhler, Sabine Hoffjan
Myopathies comprise a heterogeneous group of disorders characterized by variable phenotypes. The increasing use of next-generation sequencing allows identification of the causative genes in a much higher percentage of patients with hereditary muscle disorders and also illustrates a considerable degree of overlap with other clinical entities, including connective tissue disorders. Here, we present a 14-year-old German patient who was initially suspected to suffer from myopathy based on his clinical, radiological, and muscle biopsy findings...
February 2018: Molecular Syndromology
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