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https://www.readbyqxmd.com/read/28316886/identification-of-dysregulated-genes-in-rheumatoid-arthritis-based-on-bioinformatics-analysis
#1
Ruihu Hao, Haiwei Du, Lin Guo, Fengde Tian, Ning An, Tiejun Yang, Changcheng Wang, Bo Wang, Zihao Zhou
BACKGROUND: Rheumatoid arthritis (RA) is a chronic auto-inflammatory disorder of joints. The present study aimed to identify the key genes in RA for better understanding the underlying mechanisms of RA. METHODS: The integrated analysis of expression profiling was conducted to identify differentially expressed genes (DEGs) in RA. Moreover, functional annotation, protein-protein interaction (PPI) network and transcription factor (TF) regulatory network construction were applied for exploring the potential biological roles of DEGs in RA...
2017: PeerJ
https://www.readbyqxmd.com/read/28315471/a-mild-form-of-stickler-syndrome-type-ii-caused-by-mosaicism-of-col11a1
#2
Kathrine F Lauritsen, Dorte L Lildballe, Paul J Coucke, Rikke Monrad, Dorte A Larsen, Pernille A Gregersen
Stickler syndrome, a clinically as well as molecularly heterogeneous connective tissue disorder, is predominantly inherited in an autosomal dominant manner and is considered complete penetrant. Previously, mosaicism in Stickler syndrome has been reported in only a few cases. We describe a child with Stickler syndrome due to a novel splice site mutation in COL11A1. Initially, Sanger sequencing of both parents showed normal test results for the mutation. Due to mild phenotypic traits, the father was tested again using a more sensitive method (NGS), and was found to have low-grade mosaicism in various tissue samples (range 7-22% of the DNA)...
March 14, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28314643/acute-ascending-aortic-dissection-after-mdma-ecstasy-use-a-case-report
#3
Satoko Kanahara, Mostafa El-Refai, Nasser Lakkis, Rashed Tabbaa
Acute aortic dissection is rare among young patients in the absence of connective tissue disorders. One of the risk factors associated with aortic dissection among young patients is amphetamine use. We report a case of a 37-year-old female with a past medical history of hypertension presenting with syncope and altered mental status who was found to have an acute DeBakey Type I aortic dissection after ingestion of 3,4-methylenedioxymethamphetamine (MDMA), commonly known as ecstasy. This is the second case in the literature describing aortic dissection in relation to MDMA use...
November 15, 2016: Hellenic Journal of Cardiology: HJC, Hellēnikē Kardiologikē Epitheōrēsē
https://www.readbyqxmd.com/read/28306229/the-2017-international-classification-of-the-ehlers-danlos-syndromes
#4
Fransiska Malfait, Clair Francomano, Peter Byers, John Belmont, Britta Berglund, James Black, Lara Bloom, Jessica M Bowen, Angela F Brady, Nigel P Burrows, Marco Castori, Helen Cohen, Marina Colombi, Serwet Demirdas, Julie De Backer, Anne De Paepe, Sylvie Fournel-Gigleux, Michael Frank, Neeti Ghali, Cecilia Giunta, Rodney Grahame, Alan Hakim, Xavier Jeunemaitre, Diana Johnson, Birgit Juul-Kristensen, Ines Kapferer-Seebacher, Hanadi Kazkaz, Tomoki Kosho, Mark E Lavallee, Howard Levy, Roberto Mendoza-Londono, Melanie Pepin, F Michael Pope, Eyal Reinstein, Leema Robert, Marianne Rohrbach, Lynn Sanders, Glenda J Sobey, Tim Van Damme, Anthony Vandersteen, Caroline van Mourik, Nicol Voermans, Nigel Wheeldon, Johannes Zschocke, Brad Tinkle
The Ehlers-Danlos syndromes (EDS) are a clinically and genetically heterogeneous group of heritable connective tissue disorders (HCTDs) characterized by joint hypermobility, skin hyperextensibility, and tissue fragility. Over the past two decades, the Villefranche Nosology, which delineated six subtypes, has been widely used as the standard for clinical diagnosis of EDS. For most of these subtypes, mutations had been identified in collagen-encoding genes, or in genes encoding collagen-modifying enzymes. Since its publication in 1998, a whole spectrum of novel EDS subtypes has been described, and mutations have been identified in an array of novel genes...
March 2017: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://www.readbyqxmd.com/read/28306225/the-ehlers-danlos-syndromes-rare-types
#5
REVIEW
Angela F Brady, Serwet Demirdas, Sylvie Fournel-Gigleux, Neeti Ghali, Cecilia Giunta, Ines Kapferer-Seebacher, Tomoki Kosho, Roberto Mendoza-Londono, Michael F Pope, Marianne Rohrbach, Tim Van Damme, Anthony Vandersteen, Caroline van Mourik, Nicol Voermans, Johannes Zschocke, Fransiska Malfait
The Ehlers-Danlos syndromes comprise a clinically and genetically heterogeneous group of heritable connective tissue disorders, which are characterized by joint hypermobility, skin hyperextensibility, and tissue friability. In the Villefranche Nosology, six subtypes were recognized: The classical, hypermobile, vascular, kyphoscoliotic, arthrochalasis, and dermatosparaxis subtypes of EDS. Except for the hypermobile subtype, defects had been identified in fibrillar collagens or in collagen-modifying enzymes. Since 1997, a whole spectrum of novel, clinically overlapping, rare EDS-variants have been delineated and genetic defects have been identified in an array of other extracellular matrix genes...
March 2017: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://www.readbyqxmd.com/read/28303968/sex-differences-in-dna-methylation-of-the-cord-blood-are-related-to-sex-bias-psychiatric-diseases
#6
Mariana Maschietto, Laura Caroline Bastos, Ana Carolina Tahira, Elen Pereira Bastos, Veronica Luiza Vale Euclydes, Alexandra Brentani, Günther Fink, Angelica de Baumont, Aloísio Felipe-Silva, Rossana Pulcineli Vieira Francisco, Gisele Gouveia, Sandra Josefina Ferraz Ellero Grisi, Ana Maria Ulhoa Escobar, Carlos Alberto Moreira-Filho, Guilherme Vanoni Polanczyk, Euripedes Constantino Miguel, Helena Brentani
Sex differences in the prevalence of psychiatric disorders are well documented, with exposure to stress during gestation differentially impacting females and males. We explored sex-specific DNA methylation in the cord blood of 39 females and 32 males born at term and with appropriate weight at birth regarding their potential connection to psychiatric outcomes. Mothers were interviewed to gather information about environmental factors (gestational exposure) that could interfere with the methylation profiles in the newborns...
March 17, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28303730/biomechanical-properties-of-the-pelvic-floor-muscles-of-continent-and-incontinent-women-using-an-inverse-finite-element-analysis
#7
M E T Silva, S Brandão, M P L Parente, T Mascarenhas, R M Natal Jorge
Pelvic disorders can be associated with changes in the biomechanical properties in the muscle, ligaments and/or connective tissue form fascia and ligaments. In this sense, the study of their mechanical behavior is important to understand the structure and function of these biological soft tissues. The aim of this study was to establish the biomechanical properties of the pelvic floor muscles of continent and incontinent women, using an inverse finite element analysis (FEA). The numerical models, including the pubovisceral muscle and pelvic bones were built from magnetic resonance (MR) images acquired at rest...
March 17, 2017: Computer Methods in Biomechanics and Biomedical Engineering
https://www.readbyqxmd.com/read/28298841/etiological-profile-of-noncompressive-myelopathies-in-a-tertiary-care-hospital-of-northeast-india
#8
Ashok Kumar Kayal, Munindra Goswami, Marami Das, Lakhshya Jyoti Basumatary, Suvorit Subhas Bhowmick, Baiakmenlang Synmon
BACKGROUND: The discovery of antibodies against aquaporin-4 and evolving concepts of noncompressive myelopathies in the 21(st) century have made a major impact on the etiological profile of these diseases, with few cases turning out to be idiopathic. OBJECTIVE: To find causes of noncompressive myelopathy in a tertiary care hospital of Northeast India. MATERIALS AND METHODS: An observational study was carried out in the Neurology Department of Gauhati Medical College, Guwahati, from September 2013 to February 2016...
January 2017: Annals of Indian Academy of Neurology
https://www.readbyqxmd.com/read/28296287/bio-inspired-nanomedicine-strategies-for-artificial-blood-components
#9
REVIEW
Anirban Sen Gupta
Blood is a fluid connective tissue where living cells are suspended in noncellular liquid matrix. The cellular components of blood render gas exchange (RBCs), immune surveillance (WBCs) and hemostatic responses (platelets), and the noncellular components (salts, proteins, etc.) provide nutrition to various tissues in the body. Dysfunction and deficiencies in these blood components can lead to significant tissue morbidity and mortality. Consequently, transfusion of whole blood or its components is a clinical mainstay in the management of trauma, surgery, myelosuppression, and congenital blood disorders...
March 15, 2017: Wiley Interdisciplinary Reviews. Nanomedicine and Nanobiotechnology
https://www.readbyqxmd.com/read/28290981/case-report-of-clinical-vignette-osteopetrosis
#10
John B Moore, Thanh D Hoang, Alfred F Shwayhat
INTRODUCTION: Osteopetrosis is a connective tissue disorder resulting from abnormally dense bone predisposing patients to fracture. The clinical pattern of fractures across time and space as well as suggestive radiographic findings usually raises diagnostic suspicion. Multiple genetic mutations resulting in dysfunctional osteoclasts have been implicated in the pathogenesis of osteopetrosis with variable inheritance patterns. In severe cases, usually inherited in an autosomal recessive pattern, the medullary cavity important in the production of normal blood cell progenitors is replaced by defective endochondral bone, leading to pancytopenia and consequential extramedullary hematopoiesis...
March 2017: Military Medicine
https://www.readbyqxmd.com/read/28289001/presentation-of-calcinosis-cutis-universalis-in-mixed-connective-tissue-disorder-an-encounter-during-hip-arthroplasty
#11
Munis Ashraf, Krishnanunni Gopikrishnan, Balaji Umamahesvaran, Senthil Nathan Sambandam
A woman aged 23 years with a diagnosis of mixed connective tissue disorder presented with left groin pain extending over 6 months. Workup revealed avascular necrosis of the femoral head (Grade 3) secondary to systemic lupus erythematosus and chronic steroid intake. An uncemented total hip arthroplasty was considered as the patient was only in the third decade of life. During the preop workup, careful clinical assessment had revealed multiple subcutaneous nodules affecting the extensor musculature limited to the gluteal region, anterior and posterior aspects of the thigh...
March 13, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28288600/complementary-traditional-chinese-medicine-use-in-children-with-cerebral-palsy-a-nationwide-retrospective-cohort-study-in-taiwan
#12
Hou-Hsun Liao, Hung-Rong Yen, Chih-Hsin Muo, Yu-Chen Lee, Mei-Yao Wu, Li-Wei Chou, Mao-Feng Sun, Tung-Ti Chang
BACKGROUND: Complementary traditional Chinese medicine (TCM) has been used to treat patients with cerebral palsy (CP). However, large-scale surveys examining its use in the treatment of CP and associated disorders are lacking. METHODS: We enrolled 11,218 patients ≤ 18 years of age with CP in the Taiwanese National Health Insurance Research Database from 1995 to 2011. Patients were categorized as TCM users (n = 6,997; 62.37%) and non-TCM users (n = 4,221; 37...
March 14, 2017: BMC Complementary and Alternative Medicine
https://www.readbyqxmd.com/read/28287063/fatal-severe-coronary-artery-stenosis-in-williams-syndrome-decision-making-using-late-gadolinium-enhancement-cardiovascular-mri
#13
Inga Voges, Rodney C Franklin, Ricardo Wage, Sonya V Babu-Narayan
Williams syndrome is a well-recognised congenital disorder characterised by cardiovascular, connective tissue, and central nervous system abnormalities. Coronary artery abnormalities are seen in patients with supravalvar aortic stenosis, but end-stage ischaemic heart disease is rare. We report a case of end-stage ischaemic heart disease due to severe coronary arterial stenosis, highlighting how cardiovascular MRI contributed to the management.
March 13, 2017: Cardiology in the Young
https://www.readbyqxmd.com/read/28286774/orthostatic-intolerance-and-postural-orthostatic-tachycardia-syndrome-in-joint-hypermobility-syndrome-ehlers-danlos-syndrome-hypermobility-type-neurovegetative-dysregulation-or-autonomic-failure
#14
Claudia Celletti, Filippo Camerota, Marco Castori, Federica Censi, Laura Gioffrè, Giovanni Calcagnini, Stefano Strano
Background. Joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type (JHS/EDS-HT), is a hereditary connective tissue disorder mainly characterized by generalized joint hypermobility, skin texture abnormalities, and visceral and vascular dysfunctions, also comprising symptoms of autonomic dysfunction. This study aims to further evaluate cardiovascular autonomic involvement in JHS/EDS-HT by a battery of functional tests. Methods. The response to cardiovascular reflex tests comprising deep breathing, Valsalva maneuver, 30/15 ratio, handgrip test, and head-up tilt test was studied in 35 JHS/EDS-HT adults...
2017: BioMed Research International
https://www.readbyqxmd.com/read/28286188/endovascular-repair-of-internal-mammary-artery-aneurysms-in-two-sisters-with-smad3-mutation
#15
Daiva Nevidomskyte, Sherene Shalhub, Gabriel S Aldea, Peter H Byers, Ulrike Schwarze, Mitzi L Murray, Benjamin Starnes
True aneurysms of the internal mammary artery are rare and have been described in association with vasculitis or connective tissue disorders. Herein we describe two cases of familial internal mammary artery aneurysms in two sisters with SMAD3 mutation. The older sister presented at the age of 54 with an incidental diagnosis of a multilobed right internal mammary artery aneurysm (IMA) and the younger sister presented several years earlier with a ruptured left IMA aneurysm at the age of 49. Both sisters had Debakey type I aortic dissections prior to the IMA aneurysm presentation...
March 7, 2017: Annals of Vascular Surgery
https://www.readbyqxmd.com/read/28271171/histological-and-ultrastructural-characterization-of-alkaptonuric-tissues
#16
Lia Millucci, Giulia Bernardini, Adriano Spreafico, Maurizio Orlandini, Daniela Braconi, Marcella Laschi, Michela Geminiani, Pietro Lupetti, Giovanna Giorgetti, Cecilia Viti, Bruno Frediani, Barbara Marzocchi, Annalisa Santucci
Alkaptonuria (AKU) is a hereditary disorder that results from altered structure and function of homogentisate 1,2 dioxygenase (HGD). This enzyme, predominantly produced by liver and kidney, is responsible for the breakdown of homogentisic acid (HGA), an intermediate in the tyrosine degradation pathway. A deficient HGD activity causes HGA levels to rise systemically. The disease is clinically characterized by homogentisic aciduria, bluish-black discoloration of connective tissues (ochronosis) and joint arthropathy...
March 7, 2017: Calcified Tissue International
https://www.readbyqxmd.com/read/28261938/mast-cell-disorders-in-ehlers-danlos-syndrome
#17
REVIEW
Suranjith L Seneviratne, Anne Maitland, Lawrence Afrin
Well known for their role in allergic disorders, mast cells (MCs) play a key role in homeostatic mechanisms and surveillance, recognizing and responding to different pathogens, and tissue injury, with an array of chemical mediators. After being recruited to connective tissues, resident MCs progenitors undergo further differentiation, under the influence of signals from surrounding microenvironment. It is the differential tissue homing and local maturation factors which result in a diverse population of resident MC phenotypes...
March 6, 2017: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://www.readbyqxmd.com/read/28258219/resolving-the-cofactor-binding-site-in-the-proline-biosynthetic-enzyme-human-pyrroline-5-carboxylate-reductase-1
#18
Emily M Christensen, Sagar M Patel, David A Korasick, Ashley C Campbell, Kurt L Krause, Donald F Becker, John J Tanner
Pyrroline-5-carboxylate reductase (PYCR) is the final enzyme in proline biosynthesis, catalyzing the NAD(P)H-dependent reduction of Δ1-pyrroline-5-carboxylate (P5C) to proline. Mutations in the PYCR1 gene alter mitochondrial function and cause the connective tissue disorder cutis laxa. Furthermore, PYCR1 is overexpressed in multiple cancers, and the PYCR1 knockout suppresses tumorigenic growth, suggesting PYCR1 is a potential cancer target. However, inhibitor development has been stymied by limited mechanistic details for the enzyme, particularly in light of a previous crystallographic study that placed the cofactor binding site in the C-terminal domain rather than the anticipated Rossmann fold of the N-terminal domain...
March 3, 2017: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/28252349/a-late-presentation-of-loeys-dietz-syndrome-associated-with-an-aortic-root-aneurysm
#19
A Harky, M Garner, N Roberts
Loeys-Dietz syndrome (LDS) is characterised by a mutation in the transforming growth factor beta receptor, and is strongly associated with aortic aneurysms and rupture. Most cases of LDS present in the second decade of life, with the average life expectancy being 37 years. We report a case of suspected LDS (owing to significant family history of the disorder) that presented in the seventh decade of life. Our patient had aortic root dilation and was initially believed to have Marfan syndrome. However, subsequent tests were negative...
March 2017: Annals of the Royal College of Surgeons of England
https://www.readbyqxmd.com/read/28246187/tgf-%C3%AE-family-signaling-in-connective-tissue-and-skeletal-diseases
#20
Elena Gallo MacFarlane, Julia Haupt, Harry C Dietz, Eileen M Shore
The transforming growth factor β (TGF-β) family of signaling molecules, which includes TGF-βs, activins, inhibins, and numerous bone morphogenetic proteins (BMPs) and growth and differentiation factors (GDFs), has important functions in all cells and tissues, including soft connective tissues and the skeleton. Specific TGF-β family members play different roles in these tissues, and their activities are often balanced with those of other TGF-β family members and by interactions with other signaling pathways...
February 28, 2017: Cold Spring Harbor Perspectives in Biology
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