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Connective tissue diseases

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https://www.readbyqxmd.com/read/28319545/systemic-lupus-erythematosus-is-associated-with-increased-adverse-postoperative-renal-outcomes-and-mortality-a-historical-cohort-study-using-administrative-health-data
#1
Rovnat Babazade, Huseyin Oguz Yilmaz, Steve M Leung, Nicole M Zimmerman, Alparslan Turan
BACKGROUND: Systemic lupus erythematosus (SLE) is a common autoimmune connective tissue disease that mainly harms kidneys, heart, lungs, and nervous system. Effects of surgical stimulus and anesthesia combined with SLE-related pathologies may increase morbidity and mortality. Therefore, we aimed to evaluate the association between SLE (versus none) and postoperative renal, cardiac, and in-hospital mortality complications among patients undergoing major surgeries. METHODS: We obtained censuses of 2009 to 2011 inpatient hospital discharges across 7 states and conducted a retrospective cohort study by using International Classification of Diseases and Injuries, Version 9, diagnosis codes, procedure codes, and present-on-admission indicators...
April 2017: Anesthesia and Analgesia
https://www.readbyqxmd.com/read/28318055/menkes-disease-mimicking-child-abuse
#2
Rebecca J Droms, Jillian F Rork, Riley McLean, Madelena Martin, Leah Belazarian, Karen Wiss
Althouygh Menkes disease has well-recognized neurologic, developmental, and cutaneous features, the initial presentation may resemble child abuse. We describe a 5-month-old boy with multiple fractures indicative of nonaccidental trauma who was ultimately diagnosed with Menkes disease. Copper deficiency leads to connective tissue abnormalities and may result in subdural hematomas, wormian bones, cervical spine defects, rib fractures, and spurring of the long bone metaphyses. Several of these findings, including fractures and subdural hematomas, may be misinterpreted as child abuse...
March 20, 2017: Pediatric Dermatology
https://www.readbyqxmd.com/read/28304197/endovascular-treatment-of-a-dural-arteriovenous-fistula-in-a-patient-with-loeys-dietz-syndrome-a-case-report
#3
Rie Aoki, Kittipong Srivatanakul, Takahiro Osada, Kazuko Hotta, Takatoshi Sorimachi, Mitsunori Matsumae, Hiroko Morisaki
Background Loeys-Dietz syndrome (LDS) is a recently recognized autosomal dominant connective tissue disease. The manifestations of LDS include vascular tortuosity, scoliosis, craniosynostosis, aneurysm and aortic dissections. Clinical presentation A 35-year-old woman treated with Stanford type B aortic dissection and breast cancer was referred to us for Borden type II dural arteriovenous fistula (dAVF) draining to the vein of Galen, involving the midline of tentorium cerebelli. The dAVF was treated successfully by combined transarterial and transvenous embolization...
April 2017: Interventional Neuroradiology
https://www.readbyqxmd.com/read/28303968/sex-differences-in-dna-methylation-of-the-cord-blood-are-related-to-sex-bias-psychiatric-diseases
#4
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/28302177/cepip-context-dependent-epigenomic-weighting-for-prioritization-of-regulatory-variants-and-disease-associated-genes
#5
Mulin Jun Li, Miaoxin Li, Zipeng Liu, Bin Yan, Zhicheng Pan, Dandan Huang, Qian Liang, Dingge Ying, Feng Xu, Hongcheng Yao, Panwen Wang, Jean-Pierre A Kocher, Zhengyuan Xia, Pak Chung Sham, Jun S Liu, Junwen Wang
It remains challenging to predict regulatory variants in particular tissues or cell types due to highly context-specific gene regulation. By connecting large-scale epigenomic profiles to expression quantitative trait loci (eQTLs) in a wide range of human tissues/cell types, we identify critical chromatin features that predict variant regulatory potential. We present cepip, a joint likelihood framework, for estimating a variant's regulatory probability in a context-dependent manner. Our method exhibits significant GWAS signal enrichment and is superior to existing cell type-specific methods...
March 16, 2017: Genome Biology
https://www.readbyqxmd.com/read/28302021/cytokines-induced-during-influenza-virus-infection
#6
Tatiana Betáková, Anna Kostrabova, Veronika Lachova, Lucia Turianova
Influenza A virus is one of the major human pathogens. The influenza infection can pass out without any subclinical symptoms or infestation can appear in upper respiratory tract as well as in lower respiratory tract where it can result in lethal outcome. Both innate and adaptive immune responses are activated shortly after infection providing protection against infection. Many activities of the cells of innate and adaptive immunity are coordinated by cytokines. However, inordinate or disbalanced immune response may result in overproduction of cytokines as well as chemokines what can lead to severe inflammation, including excessive recruitment of neutrophils and mononuclear cells at the site of infection...
March 16, 2017: Current Pharmaceutical Design
https://www.readbyqxmd.com/read/28300889/elastoma-clinical-and-histopathological-aspects-of-a-rare-disease
#7
Marina Gagheggi Maciel, Milvia Maria Simões E Silva Enokihara, Maria Bandeira de Melo Paiva Seize, Aline Pantano Marcassi, Christiane Affonso De Donato Piazza, Silmara da Costa Pereira Cestari
Elastoma is a connective tissue nevus characterized by changes in elastic fibers. It can be congenital or acquired, and is usually diagnosed before puberty. Associated with osteopoikilosis, it is known as Buschke-Ollendorff syndrome. Histopathology with specific staining for elastic fibers is critical for a diagnostic conclusion. This report describes the case of a 7-year-old male patient with lesions diagnosed as elastoma, with absence of bone changes in the radiological imaging. This study aims to report the clinical presentation and histological examination of such unusual disease...
September 2016: Anais Brasileiros de Dermatologia
https://www.readbyqxmd.com/read/28300859/the-use-of-rituximab-in-the-management-of-refractory-dermatomyositis
#8
Ifedayo O Kuye, Gideon P Smith
There is growing adoption of rituximab in the treatment of dermatomyositis patients whose disease is refractory to steroids. However, the effects have not been extensively studied. This is a retrospective study of 25 patients with dermatomyositis who were treated with rituximab. Data from January 2000 to July 2014 was obtained from a clinical data repository, which yielded results from two tertiary centers in the United States. We analyzed information on muscle weakness, skin disease, enzyme levels, and immunosuppressive medication use before and after treatment with rituximab...
February 1, 2017: Journal of Drugs in Dermatology: JDD
https://www.readbyqxmd.com/read/28300644/the-connective-tissue-phenotype-of-glaucomatous-cupping-in-the-monkey-eye-clinical-and-research-implications
#9
REVIEW
Hongli Yang, Juan Reynaud, Howard Lockwood, Galen Williams, Christy Hardin, Luke Reyes, Cheri Stowell, Stuart K Gardiner, Claude F Burgoyne
In a series of previous publications we have proposed a framework for conceptualizing the optic nerve head (ONH) as a biomechanical structure. That framework proposes important roles for intraocular pressure (IOP), IOP-related stress and strain, cerebrospinal fluid pressure (CSFp), systemic and ocular determinants of blood flow, inflammation, auto-immunity, genetics, and other non-IOP related risk factors in the physiology of ONH aging and the pathophysiology of glaucomatous damage to the ONH. The present report summarizes 20 years of technique development and study results pertinent to the characterization of ONH connective tissue deformation and remodeling in the unilateral monkey experimental glaucoma (EG) model...
March 12, 2017: Progress in Retinal and Eye Research
https://www.readbyqxmd.com/read/28300570/idiopathic-interstitial-pneumonia-associated-with-autoantibodies-a-large-case-series-followed-over-one-year
#10
Bridget F Collins, Charles F Spiekerman, Megan A Shaw, Lawrence A Ho, Jennifer Hayes, Carolyn A Spada, Caroline M Stamato, Ganesh Raghu
BACKGROUND: Some patients with autoimmune characteristics and idiopathic interstitial pneumonia (IIP), particularly usual interstitial pneumonia (UIP), do not fit neatly into the category of connective tissue disease associated interstitial lung disease (CTD-ILD), idiopathic pulmonary fibrosis (IPF) or recently proposed yet to be validated criteria for interstitial pneumonia with autoimmune features (IPAF). Outcomes of these patients are unknown. METHODS: Retrospective single center study; ANOVA analyses compared differences in mean change in forced vital capacity (FVC) and diffusion capacity (DLCO) over 1-year among 124 well defined patients (20 AI-ILD [positive autoantibodies with or without symptoms of CTD], 15 IPAF, 36 CTD-ILD, 53 "Lone-IPF" [patients with IPF without any autoantibodies]) RESULTS: 75% of patients with AI-ILD, 33% IPAF, and 33% CTD-ILD had UIP...
March 11, 2017: Chest
https://www.readbyqxmd.com/read/28299654/roles-of-runx-genes-in-nervous-system-development
#11
Jae Woong Wang, Stefano Stifani
Runt-related (Runx) transcription factors play essential roles during development and adult tissue homeostasis and are responsible for several human diseases. They regulate a variety of biological mechanisms in numerous cell lineages. Recent years have seen significant progress in our understanding of the functions performed by Runx proteins in the developing and postnatal mammalian nervous system. In both central and peripheral nervous systems, Runx1 and Runx3 display remarkably specific expression in mostly non-overlapping groups of postmitotic neurons...
2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/28298841/etiological-profile-of-noncompressive-myelopathies-in-a-tertiary-care-hospital-of-northeast-india
#12
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/28297158/unclassifiable-interstitial-lung-diseases-clinical-characteristics-and-survival
#13
Charlotte Hyldgaard, Elisabeth Bendstrup, Athol U Wells, Ole Hilberg
BACKGROUND AND OBJECTIVE: Unclassifiable disease in chronic interstitial lung disease (ILD) is a common and challenging problem but has been insufficiently studied. The 2013 update of the international multidisciplinary classification of the idiopathic interstitial pneumonias presented a classification based on observed disease behaviour with the purpose of providing guidance to clinicians in the management of these patients. The aim of this study was to apply the new disease behaviour classification (DBC) and the previously validated ILD-gender age physiology (GAP) score to a cohort of unclassifiable ILD patients and to assess the prognostic value of these two composite approaches...
April 2017: Respirology: Official Journal of the Asian Pacific Society of Respirology
https://www.readbyqxmd.com/read/28295701/the-impact-of-binding-of-macrocyclic-metal-complexes-on-amyloid-fibrillization-of-insulin-and-lysozyme
#14
Vladyslava Kovalska, Svitlana Chernii, Vsevolod Cherepanov, Mykhaylo Losytskyy, Victor Chernii, Oleg Varzatskii, Anton Naumovets, Sergiy Yarmoluk
Amyloid fibrils are insoluble protein aggregates whose accumulation in cells and tissues is connected with a range of pathological diseases. We studied the impact of 2 metal complexes (axially coordinated Hf phthalocyanine and iron (II) clathrochelate) on aggregation of insulin and lysozyme. For both proteins, the host-guest interaction with these compounds changes the kinetics of fibrillization and affects the morphology of final aggregates. The Hf phthalocyanine is a very efficient inhibitor of insulin fibrillization; in its presence, only very low amounts of fibrils with the diameters of 0...
March 14, 2017: Journal of Molecular Recognition: JMR
https://www.readbyqxmd.com/read/28293664/the-expression-of-b7-h3-molecule-in-periodontal-disease
#15
Saumya John, Arun Kurumathur, Avaneendra Talwar, Keerthana Kumar, Teenu Abraham, Ananthi Alagiri, Gnanasagar Walaja, Jasmine Clements
STATEMENT OF THE PROBLEM: T cells have been shown to play a role in the etiopathogenesis of periodontal disease. B7-H3, a costimulatory molecule, is found to be associated with regulation of T cell function in some tumoral tissues, as well as autoimmune and inflammatory diseases. PURPOSE: The aim of this study was to investigate the expression of B7-H3 molecule in healthy and diseased gingival tissue samples. MATERIALS AND METHOD: Gingival samples were taken from 2 groups (A and B) representing periodontal health and periodontal disease, respectively...
March 2017: Journal of Dentistry
https://www.readbyqxmd.com/read/28288997/carotid-artery-dissection-a-rare-complication-of-eagle-syndrome
#16
Rogin Subedi, Ryan Dean, Stamatis Baronos, Amit Dhamoon
Carotid artery dissection is a significant cause of ischaemic stroke in all age groups and accounts for a large percentage of strokes in young patients. Carotid dissection can be caused by trauma, underlying connective tissue disease, hypertension, mechanical injury or can be spontaneous. We present an exceedingly rare case of carotid dissection caused by an elongated styloid process, causing direct mechanical damage to the carotid artery.
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
#17
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
#18
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
#19
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/28286166/joint-hypermobility-syndrome-recognizing-a-commonly-overlooked-cause-of-chronic-pain
#20
REVIEW
Bharat Kumar, Petar Lenert
Joint hypermobility syndrome, also known as Benign Hypermobility Syndrome, is a connective tissue disease characterized by joint instability, chronic pain, and minor skin changes. It shares many clinical features of Ehlers-Danlos Syndrome, Hypermobility Type, enough so that many authorities consider them as one disease process. Approximately 3% of the general population is believed to have joint hypermobility syndrome, but despite this high prevalence, due to lack of awareness, heterogeneity of clinical presentation, and reliance on physical examination for diagnosis, it is largely overlooked by primary care physicians as well as by specialists...
March 9, 2017: American Journal of Medicine
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