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https://www.readbyqxmd.com/read/28816740/the-value-of-direct-immunofluorescence-on-proteinase-digested-formalin-fixed-paraffin-embedded-skin-biopsies
#1
Aida Valencia-Guerrero, April Deng, Karen Dresser, Gail Bouliane, Kristine M Cornejo
Direct immunofluorescence (DIF) on frozen tissue (DIF-F) is the method of choice for the identification of immune deposits present in skin and other tissues. DIF can also be performed on formalin-fixed paraffin-embedded tissue (DIF-P) after antigen retrieval with proteases and has proven to be of value in renal pathology. However, its utility in skin biopsies has not been fully examined. In this study, we performed DIF-P on 60 skin biopsies that comprised of bullous pemphigoid (n = 18), pemphigoid gestationis (n = 1), pemphigus (n = 7), linear IgA disease (n = 7), vasculitis (n = 20), lupus erythematosus (n = 3), and dermatitis herpetiformis (n = 4) cases...
August 9, 2017: American Journal of Dermatopathology
https://www.readbyqxmd.com/read/28814672/vipar-a-quantitative-approach-to-3d-histopathology-applied-to-lymphatic-malformations
#2
René Hägerling, Dominik Drees, Aaron Scherzinger, Cathrin Dierkes, Silvia Martin-Almedina, Stefan Butz, Kristiana Gordon, Michael Schäfers, Klaus Hinrichs, Pia Ostergaard, Dietmar Vestweber, Tobias Goerge, Sahar Mansour, Xiaoyi Jiang, Peter S Mortimer, Friedemann Kiefer
BACKGROUND: Lack of investigatory and diagnostic tools has been a major contributing factor to the failure to mechanistically understand lymphedema and other lymphatic disorders in order to develop effective drug and surgical therapies. One difficulty has been understanding the true changes in lymph vessel pathology from standard 2D tissue sections. METHODS: VIPAR (volume information-based histopathological analysis by 3D reconstruction and data extraction), a light-sheet microscopy-based approach for the analysis of tissue biopsies, is based on digital reconstruction and visualization of microscopic image stacks...
August 17, 2017: JCI Insight
https://www.readbyqxmd.com/read/28813744/alkaptonuria-a-case-report-with-diagnostic-challenge
#3
Vasantha L Gali, Amy M Kerkvliet, Jacob M Kusmak, Jana K Elwood
Alkaptonuria is a rare autosomal recessive metabolic disorder caused by deficiency of homogentisic acid (HGA) oxidase, the only enzyme capable of catabolizing HGA. Deficiency of this enzyme leads to excess HGA which deposits in the connective tissue. We present a case of a 64-year-old woman who was referred to the dermatology clinic for a full body mole check and skin cancer screening. Clinically she had blue/gray pigmentation of the external ear and sclera. Also she had a domed papule on the left cheek with punctate gray pigmentation which was biopsied...
August 2017: South Dakota Medicine: the Journal of the South Dakota State Medical Association
https://www.readbyqxmd.com/read/28808514/nodular-pulmonary-amyloidosis-with-primary-pulmonary-malt-lymphoma-masquerading-as-metastatic-lung-disease
#4
Sunil Upadhaya, Mohd Baig, Basim Towfiq, Samer Al Hadidi
Nodular pulmonary amyloidosis is a very rare form of localized amyloidosis involving the lung, with very little known about its nature. It is usually associated with indolent B cell lymphoproliferative disorder and also connective tissue disorders. No definite treatment guideline exists. Many patients respond to chemotherapy with low risk of progression and a 'wait and watch' strategy is also considered a valid treatment option. In this report the authors present a case of nodular pulmonary amyloidosis with pulmonary mucosa associated lymphoid tissue (MALT) lymphoma that presented with features of metastatic malignant disease and after definitive diagnosis decided not to undergo treatment...
July 2017: Journal of Community Hospital Internal Medicine Perspectives
https://www.readbyqxmd.com/read/28807865/novel-compound-heterozygous-mutations-identified-by-whole-exome-sequencing-in-a-japanese-patient-with-geroderma-osteodysplastica
#5
Ryojun Takeda, Masaki Takagi, Hiroyuki Shinohara, Hiroshi Futagawa, Satoshi Narumi, Tomonobu Hasegawa, Gen Nishimura, Hiroshi Yoshihashi
Geroderma osteodysplastica (GO) is a subtype of cutis laxa syndrome characterized by congenital wrinkly skin, a prematurely aged face, extremely short stature, and osteoporosis leading to recurrent fractures. GO exhibits an autosomal recessive inheritance pattern and is caused by loss-of-function mutations in GORAB, which encodes a protein important for Golgi-related transport. Using whole exome sequencing, we identified novel compound heterozygous nonsense mutations in the GORAB in a GO patient. The patient was a 14-year-old Japanese boy...
August 11, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28807406/longitudinal-changes-in-segmental-aortic-stiffness-determined-by-cardiac-magnetic-resonance-in-children-and-young-adults-with-connective-tissue-disorders-the-marfan-loeys-dietz-and-ehlers-danlos-syndromes-and-nonspecific-connective-tissue-disorders
#6
Anthony Merlocco, Ronald V Lacro, Kimberlee Gauvreau, Nicole Rabideau, Michael N Singh, Ashwin Prakash
Aortic stiffness measured by cardiac magnetic resonance (CMR) in connective tissue disorder (CTD) patients has been previously shown to be abnormal and to be associated with adverse aortic outcomes. The rate of increase in aortic stiffness with normal aging has been previously described. However, longitudinal changes in aortic stiffness have not been characterized in CTD patients. We examined longitudinal changes in CMR-derived aortic stiffness in children and young adults with CTDs. A retrospective analysis of 50 children and young adults (median age, 20 years; range, 0...
July 14, 2017: American Journal of Cardiology
https://www.readbyqxmd.com/read/28802090/assessment-of-the-dynamics-of-human-glymphatic-system-by-near-infrared-spectroscopy-nirs
#7
Teemu Myllylä, Markus Harju, Vesa Korhonen, Alexander Bykov, Vesa Kiviniemi, Igor Meglinski
Fluctuations in brain water content has attracted increasing interest, particularly as regards studies of the glymphatic system, which is connected with the complex organisation of dural lymphatic vessels, responsible for cleaning tissue. Disturbances of glymphatic circulation are associated with several brain disorders, including dementia. This paper introduces an approach to non-invasive measurement of water dynamics in the human brain utilizing near-infrared spectroscopy (NIRS). We demonstrate the possibility to sense dynamic variations of water content between the skull and grey matter, for instance, in the subarachnoid space...
August 12, 2017: Journal of Biophotonics
https://www.readbyqxmd.com/read/28799316/mirror-aneurysm-with-right-frontal-ich-in-a-patient-with-osteogenesis-imperfecta
#8
Vijay Sardana, Sumit Kamble, Sunil K Sharma, Dilip Maheshwari, Bharat Bhushan
Osteogenesis imperfecta (OI) is a heterogeneous group of inherited disorders that occur owing to the abnormalities in type 1 collagen, and is characterized by increased bone fragility and other extraskeletal manifestations. OI may be associated with vascular complications such as aortic and cervical artery dissection, carotid cavernous fistula, and coronary artery aneurysms but unlike other connective tissue diseases, the cerebrovascular system is less frequently involved. We report rare case of 50 year female patient who was diagnosed with OI following right frontal haemorrhage secondary to a ruptured middle cerebral artery mirror aneurysm...
August 2017: Journal of the Association of Physicians of India
https://www.readbyqxmd.com/read/28791261/rationale-of-combination-therapy-with-antioxidants-in-medical-management-of-peyronie-s-disease-results-of-clinical-application
#9
Gianni Paulis, Andrea Paulis, Gennaro Romano, Davide Barletta, Andrea Fabiani
Peyronie's disease (PD) is a connective tissue disorder involving the tunica albuginea of the corpora cavernosa of the penis. We have published several studies describing a "combined therapy" for PD patients, but the present study aims to clearly demonstrate how the association between various antioxidants in PD treatment can significantly increase the likelihood of therapeutic success. We used the following substances: silymarin, ginkgo biloba, vitamin E, bilberry, topical diclofenac sodium, and pentoxifylline (PTX)...
2017: Research and Reports in Urology
https://www.readbyqxmd.com/read/28790540/the-effect-of-adolescent-idiopathic-scoliosis-on-the-occurrence-of-varicose-veins-on-lower-extremities
#10
Goran Talic, Luka Talic, Djurdjica Stevanovic-Papica, Tatjana Nozica-Radulovic, Snjezana Novakovic-Bursac
INTRODUCTION: Scoliosis is a complex three-dimensional spine deformity with the frontal plane deflexion (side-shift) of the series of vertebra from the midline and with torque deformity of vertebra, ribs, and the entire trunk towards the apex of curve. Chronic venous diseases present a group of pathological conditions caused by the increased venous pressure. The venous pressure may be increased due to genetics, ligament laxity, general obesity, injuries, and changes in biomechanics of spine and lower extremities, etc...
April 2017: Medical Archives
https://www.readbyqxmd.com/read/28782880/adaptive-changes-of-telocytes-in-the-urinary-bladder-of-patients-affected-by-neurogenic-detrusor-overactivity
#11
Chiara Traini, Maria-Simonetta Fausssone-Pellegrini, Daniele Guasti, Giulio Del Popolo, Jacopo Frizzi, Sergio Serni, Maria-Giuliana Vannucchi
Urinary bladder activity involves central and autonomic nervous systems and bladder wall. Studies on the pathogenesis of voiding disorders such as the neurogenic detrusor overactivity (NDO) due to suprasacral spinal cord lesions have emphasized the importance of an abnormal handling of the afferent signals from urothelium and lamina propria (LP). In the LP (and detrusor), three types of telocytes (TC) are present and form a 3D-network. TC are stromal cells able to form the scaffold that contains and organizes the connective components, to serve as guide for tissue (re)-modelling, to produce trophic and/or regulatory molecules, to share privileged contacts with the immune cells...
August 7, 2017: Journal of Cellular and Molecular Medicine
https://www.readbyqxmd.com/read/28782645/marfan-syndrome-a-connective-tissue-disease-at-the-crossroads-of-mechanotransduction-tgf%C3%AE-signaling-and-cell-stemness
#12
REVIEW
Francesco Ramirez, Cristina Caescu, Elisabeth Wondimu, Josephine Galatioto
Mutations in fibrillin-1 cause Marfan syndrome (MFS), the most common heritable disorder of connective tissue. Fibrillin-1 assemblies (microfibrils and elastic fibers) represent a unique dual-function component of the architectural matrix. The first role is structural for they endow tissues with tensile strength and elasticity, transmit forces across them and demarcate functionally discrete areas within them. The second role is instructive in that these macroaggregates modulate a large variety of sub-cellular processes by interacting with mechanosensors, and integrin and syndecan receptors, and by modulating the bioavailability of local TGFβ signals...
August 4, 2017: Matrix Biology: Journal of the International Society for Matrix Biology
https://www.readbyqxmd.com/read/28782090/purified-umbilical-cord-derived-mesenchymal-stem-cell-treatment-in-a-case-of-systemic-lupus-erythematosus
#13
Christopher D Phillips, Pornpatcharin Wongsaisri, Thein Htut, Terry Grossman
INTRODUCTION: Systemic lupus erythematosus (SLE) is a multiple organ system autoimmune disorder for which there is no known cure. METHODS: We report a case of a young adult lady with SLE and Sjogren's with diagnostic and clinical resolution following purified umbilical cord derived mesenchymal stem cell (MSC) and globulin component protein macrophage activating factor (GcMAF) therapy in a combined multidisciplinary integrative medicine protocol. RESULTS: Our patient had complete reversal of all clinical and laboratory markers...
December 2017: Clinical and Translational Medicine
https://www.readbyqxmd.com/read/28781834/ehlers-danlos-hypermobility-type-in-an-adult-with-chronic-pain-and-fatigue-a-case-study
#14
Sarah Cohen, Fred Markham
Ehlers-Danlos syndrome hypermobility type (EDS-HT) is an underdiagnosed genetic connective tissue disorder that causes joint hypermobility and widespread pain. We present a patient with the chief complaint of shoulder pain, a long history of widespread joint pain, and associated comorbidities. EDS-HT provided a unifying diagnosis and direction for management.
August 2017: Clinical Case Reports
https://www.readbyqxmd.com/read/28779943/integration-of-naturopathic-medicine-into-acute-inpatient-care-an-approach-for-patient-centred-medicine-under-diagnosis-related-groups
#15
Tobias Romeyke, Elisabeth Nöhammer, Hans Christoph Scheuer, Harald Stummer
BACKGROUND: The integration of naturopathic methods into acute inpatient care has been the subject of very few scientific studies. Patient expectations of the service received in hospital are increasing, and the integration of naturopathy into clinical practice can serve as Unique Selling Proposition. MATERIALS AND METHODS: The present study was conducted over a period of two years. In total, over 1700 patients were included in the study. The setting is an acute hospital specialising in a multimodal, patient-centred approach to treatment...
August 2017: Complementary Therapies in Clinical Practice
https://www.readbyqxmd.com/read/28777699/multidetector-ct-for-evaluation-of-the-extrapleural-space
#16
Mario G Santamarina, Ignacio Beddings, Guillermo V Lermanda Holmgren, Hector Opazo Sanchez, Mariano M Volpacchio
The extrapleural space (EPS) is an anatomic space at the periphery of the chest that can be involved in a number of disease processes. This space lies between the inner surface of the ribs and the parietal pleura and contains adipose tissue, loose connective tissue, lymph nodes, vessels, endothoracic fascia, and the innermost intercostal muscle. It is often overlooked on cross-sectional imaging studies and almost invariably overlooked on conventional radiographic studies. At conventional radiography, the EPS occasionally can be seen when there is extrapleural fat proliferation, which might be confused with pleural thickening or pleural effusion...
August 4, 2017: Radiographics: a Review Publication of the Radiological Society of North America, Inc
https://www.readbyqxmd.com/read/28777275/gait-deviations-in-children-with-osteogenesis-imperfecta-type-i
#17
Christina R Garman, Adam Graf, Joseph Krzak, Angela Caudill, Peter Smith, Gerald Harris
BACKGROUND: Osteogenesis imperfecta (OI) is a congenital connective tissue disorder often characterized by orthopaedic complications that impact normal gait. As such, mobility is of particular interest in the OI population as it is associated with multiple aspects of participation and quality of life. The purpose of the current study was to identify and describe common gait deviations in a large sample of individuals with type I OI and speculate the etiology with a goal of improving function...
August 2, 2017: Journal of Pediatric Orthopedics
https://www.readbyqxmd.com/read/28771243/b3gat3-related-disorder-with-craniosynostosis-and-bone-fragility-due-to-a-unique-mutation
#18
Kevin Yauy, Frederic Tran Mau-Them, Marjolaine Willems, Christine Coubes, Patricia Blanchet, Christian Herlin, Ikram Taleb Arrada, Elodie Sanchez, Jean-Michel Faure, Marie-Pascale Le Gac, Olivier Prodhomme, Anne Boland, Vincent Meyer, Jean-Baptiste Rivière, Yannis Duffourd, Jean-François Deleuze, Thomas Guignard, Guillaume Captier, Mouna Barat-Houari, David Genevieve
PurposeBased on prenatal suspicion of the combination of radioulnar or radiohumeral synostosis and a peculiar shape of the skull suggestive of craniosynostosis, we report on six patients from four unrelated consanguineous families in whom Antley-Bixler syndrome was suspected during the prenatal period without mutation in genes known to be associated with the syndrome.MethodsMolecular diagnosis involved whole-exome and gene-panel sequencing. RESULTS: All sequenced patients showed a unique homozygous mutation of c...
August 3, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28769872/intracranial-arterial-dolichoectasia
#19
REVIEW
Victor J Del Brutto, Jorge G Ortiz, José Biller
An increased diameter (ectasis) and/or long and tortuous course (dolichosis) of at least one cerebral artery define intracranial arterial dolichoectasia (IADE). IADE could be detected incidentally or may give rise to an array of neurological complications including ischemic stroke, intracranial hemorrhage, or compression of surrounding neural structures. The basilar artery is preferentially affected and has been studied in more detail, mainly due to the presence of accepted diagnostic criteria proposed by Smoker and colleagues in 1986 (1)...
2017: Frontiers in Neurology
https://www.readbyqxmd.com/read/28768908/nonmyocyte-erk1-2-signaling-contributes-to-load-induced-cardiomyopathy-in-marfan-mice
#20
Rosanne Rouf, Elena Gallo MacFarlane, Eiki Takimoto, Rahul Chaudhary, Varun Nagpal, Peter P Rainer, Julia G Bindman, Elizabeth E Gerber, Djahida Bedja, Christopher Schiefer, Karen L Miller, Guangshuo Zhu, Loretha Myers, Nuria Amat-Alarcon, Dong I Lee, Norimichi Koitabashi, Daniel P Judge, David A Kass, Harry C Dietz
Among children with the most severe presentation of Marfan syndrome (MFS), an inherited disorder of connective tissue caused by a deficiency of extracellular fibrillin-1, heart failure is the leading cause of death. Here, we show that, while MFS mice (Fbn1C1039G/+ mice) typically have normal cardiac function, pressure overload (PO) induces an acute and severe dilated cardiomyopathy in association with fibrosis and myocyte enlargement. Failing MFS hearts show high expression of TGF-β ligands, with increased TGF-β signaling in both nonmyocytes and myocytes; pathologic ERK activation is restricted to the nonmyocyte compartment...
August 3, 2017: JCI Insight
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