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Connective tissue disorder

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https://www.readbyqxmd.com/read/28104197/simplified-mitral-valve-repair-in-pediatric-patients-with-connective-tissue-disorders
#1
Luca A Vricella, William A Ravekes, Eloisa Arbustini, Robert D B Jaquiss, Constantine Mavroudis, Harry C Dietz, Marshall L Jacobs, Narutoshi Hibino, Duke E Cameron
BACKGROUND: In pediatric patients with connective tissue disorders (CTDs), early cardiac presentation often involves severe mitral regurgitation (MR) associated with severe bileaflet prolapse and, less frequently, aortic root enlargement. We adopted a simplified repair to address MR and prevent systolic anterior motion (SAM) in this unique group of patients. MATERIALS AND METHODS: Retrospective review of clinical and echocardiographic data of all pediatric patients (age < 18 years) with CTD and MR undergoing simplified repair at 3 institutions (2000-2014)...
February 2017: Journal of Thoracic and Cardiovascular Surgery
https://www.readbyqxmd.com/read/28102862/mutation-spectrum-in-the-abcc6-gene-and-genotype-phenotype-correlations-in-a-french-cohort-with-pseudoxanthoma-elasticum
#2
Anne Legrand, Laurence Cornez, Wafa Samkari, Jean-Michael Mazzella, Annabelle Venisse, Valérie Boccio, Karine Auribault, Boris Keren, Karelle Benistan, Dominique P Germain, Michael Frank, Xavier Jeunemaitre, Juliette Albuisson
PURPOSE: Pseudoxanthoma elasticum (PXE) is an autosomal recessive disorder caused by variants in the ABCC6 gene. Ectopic mineralization of connective tissues leads to skin, eye, and cardiovascular manifestations with considerable phenotypic variability of unknown cause. We aimed to identify genotype-phenotype correlations in PXE. METHODS: A molecular analysis was performed on 458 French PXE probands clinically evaluated using the Phenodex score (PS). Variant topographic analysis and genotype-phenotype correlation analysis were performed according to the number and type of identified variants...
January 19, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28102596/delineation-of-ehlers-danlos-syndrome-phenotype-due-to-the-c-934c-t-p-arg312cys-mutation-in-col1a1-report-on-a-three-generation-family-without-cardiovascular-events-and-literature-review
#3
Marina Colombi, Chiara Dordoni, Marina Venturini, Arianna Zanca, Piergiacomo Calzavara-Pinton, Marco Ritelli
Classical Ehlers-Danlos syndrome (cEDS) is a rare connective tissue disorder primarily characterized by hyperextensible skin, defective wound healing, abnormal scars, easy bruising, and generalized joint hypermobility; arterial dissections are rarely observed. Mutations in COL5A1 and COL5A2 encoding type V collagen account for more than 90% of the patients so far characterized. In addition, cEDS phenotype was reported in a small number of patients carrying the c.934C>T mutation in COL1A1 that results in an uncommon substitution of a non-glycine residue in one Gly-Xaa-Yaa repeat of the pro-α1(I)-chain p...
February 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28099215/prevalence-and-severity-of-depression-and-anxiety-in-patients-with-systemic-sclerosis-an-epidemiologic-survey-and-investigation-of-clinical-correlates
#4
Seyedeh Tahereh Faezi, Pedram Paragomi, Ashraf Shahali, Maryam Akhlaghkhah, Mahmood Akbarian, Maassoomeh Akhlaghi, Masoumeh Kheirandish, Farhad Gharibdoost
BACKGROUND: Systemic sclerosis (SSc) is a chronic multisystem connective tissue disorder with detrimental impact on quality of life. Patients with SSc face emotional distress and frequently meet criteria for a psychiatric disorder. However, the pattern of psychiatric manifestations may vary according to socioethnic background. OBJECTIVES: We investigated the prevalence of depressive and anxiety symptoms and examined their association with sociodemographic and clinical factors in Iranian SSc patients...
January 18, 2017: Journal of Clinical Rheumatology: Practical Reports on Rheumatic & Musculoskeletal Diseases
https://www.readbyqxmd.com/read/28098115/a-novel-fibrillin-1-mutation-in-an-egyptian-marfan-family-a-proband-showing-nephrotic-syndrome-due-to-focal-segmental-glomerulosclerosis
#5
Mohammad Al-Haggar, Ashraf Bakr, Yahya Wahba, Paul J Coucke, Fatma El-Hussini, Mona Hafez, Riham Eid, Abdel-Rahman Eid, Amr Sarhan, Ali Shaltout, Ayman Hammad, Sohier Yahia, Ahmad El-Rifaie, Dina Abdel-Hadi
Marfan syndrome (MFS), the founding member of connective tissue disorder, is an autosomal dominant disease; it is caused by a deficiency of the microfibrillar protein fibrillin-1 (FBN1) and characterized by involvement of three main systems; skeletal, ocular, and cardiovascular. More than one thousand mutations in FBN1 gene on chromosome 15 were found to cause MFS. Nephrotic syndrome (NS) had been described in very few patients with MFS being attributed to membranoproliferative glomerulonephritis secondary to infective endocarditis...
January 2017: Saudi Journal of Kidney Diseases and Transplantation
https://www.readbyqxmd.com/read/28094813/a-methylome-wide-mqtl-analysis-reveals-associations-of-methylation-sites-with-gad1-and-hdac3-snps-and-a-general-psychiatric-risk-score
#6
D M Ciuculete, A E Boström, S Voisin, H Philipps, O E Titova, M Bandstein, L Nikontovic, M J Williams, J Mwinyi, H B Schiöth
Genome-wide association studies have identified a number of single-nucleotide polymorphisms (SNPs) that are associated with psychiatric diseases. Increasing body of evidence suggests a complex connection of SNPs and the transcriptional and epigenetic regulation of gene expression, which is poorly understood. In the current study, we investigated the interplay between genetic risk variants, shifts in methylation and mRNA levels in whole blood from 223 adolescents distinguished by a risk for developing psychiatric disorders...
January 17, 2017: Translational Psychiatry
https://www.readbyqxmd.com/read/28094678/orthotic-treatment-of-positional-brachycephaly-associated-with-osteogenesis-imperfecta
#7
Carolina G Matarazzo, Gerd Schreen, Camilla D do Lago-Rizzardi, Maria Stella Peccin, Fernando Cg Pinto
Osteogenesis imperfecta is an inherited disorder of the connective tissue characterized primarily by fractures with no or small causal antecedents and extremely variable clinical presentation. The disorder requires a global and, therefore, multidisciplinary therapeutic approach that should aim, among other aspects, at the prevention and treatment of deformities resulting from osteogenesis imperfecta. Due to limitations related to bony deformities, it can be difficult to place these infants in a variety of positions that would help remediate skull deformities, so a cranial orthosis becomes the therapy of choice...
January 1, 2017: Prosthetics and Orthotics International
https://www.readbyqxmd.com/read/28093577/epigenetic-research-in-neuropsychiatric-disorders-the-tissue-issue
#8
Kelly M Bakulski, Alycia Halladay, Valerie W Hu, Jonathan Mill, M Daniele Fallin
PURPOSE OF REVIEW: Evidence has linked neuropsychiatric disorders with epigenetic marks as either a biomarker of disease, biomarker of exposure, or mechanism of disease processes. Neuropsychiatric epidemiologic studies using either target brain tissue or surrogate blood tissue each have methodological challenges and distinct advantages. RECENT FINDINGS: Brain tissue studies are challenged by small sample sizes of cases and controls, incomplete phenotyping, post-mortem timing, and cellular heterogeneity, but the use of a primary disease relevant tissue is critical...
September 2016: Current Behavioral Neuroscience Reports
https://www.readbyqxmd.com/read/28092273/in-vivo-testing-of-extracorporeal-membrane-ventilators-ila-activve%C3%A2-vs-prototype-i-lung%C3%A2
#9
Sabine Kischkel, Stefan Bergt, Beate Brock, Johan von Grönheim, Anne Herbst, Marc-Jonas Epping, Georg Matheis, Esther Novosel, Joerg Schneider, Philipp Warnke, Andreas Podbielski, Jan P Roesner, Peter I Lelkes, Brigitte Vollmar
A side-by-side comparison of the decarboxylation efficacy of two pump-driven veno-venous extracorporeal lung assist devices, i.e. a first prototype of the new miniaturized ambulatory extracorporeal membrane ventilator, I-lung® versus the commercial system iLA-activve® over a period of 72 hours in a large animal model.Fifteen German Landrace pigs were anesthetized and underwent mechanical hypoventilation to induce severe hypercapnia. Decarboxylation was accomplished by either the I-lung® or the iLA-activve® via a double lumen catheter in the jugular vein...
January 4, 2017: ASAIO Journal: a Peer-reviewed Journal of the American Society for Artificial Internal Organs
https://www.readbyqxmd.com/read/28088248/the-spectrum-of-rheumatic-in-patient-diagnoses-at-a-pediatric-hospital-in-kenya
#10
Angela Migowa, Inés Colmegna, Carol Hitchon, Eugene Were, Evelyn Ng'ang'a, Thomas Ngwiri, John Wachira, Sasha Bernatsky, Rosie Scuccimarri
BACKGROUND: Pediatric rheumatic diseases are chronic illnesses that can cause considerable disease burden to children and their families. There is limited epidemiologic data on these diseases in East Africa. The aim of this study was to assess the spectrum of pediatric rheumatic diagnoses in an in-patient setting and determine the accuracy of ICD-10 codes in identifying these conditions. METHODS: Medical records from Gertrude's Children's Hospital in Kenya were reviewed for patients diagnosed with "diseases of the musculoskeletal system and connective tissue" as per ICD-10 diagnostic codes assigned at discharge between January and December 2011...
January 14, 2017: Pediatric Rheumatology Online Journal
https://www.readbyqxmd.com/read/28087714/dlg5-connects-cell-polarity-and-hippo-signaling-protein-networks-by-linking-par-1-with-mst1-2
#11
Julian Kwan, Anna Sczaniecka, Emad Heidary Arash, Liem Nguyen, Chia-Chun Chen, Srdjana Ratkovic, Olga Klezovitch, Liliana Attisano, Helen McNeill, Andrew Emili, Valeri Vasioukhin
Disruption of apical-basal polarity is implicated in developmental disorders and cancer; however, the mechanisms connecting cell polarity proteins with intracellular signaling pathways are largely unknown. We determined previously that membrane-associated guanylate kinase (MAGUK) protein discs large homolog 5 (DLG5) functions in cell polarity and regulates cellular proliferation and differentiation via undefined mechanisms. We report here that DLG5 functions as an evolutionarily conserved scaffold and negative regulator of Hippo signaling, which controls organ size through the modulation of cell proliferation and differentiation...
December 15, 2016: Genes & Development
https://www.readbyqxmd.com/read/28078876/comparative-molecular-analysis-of-bacterial-species-associated-with-periodontal-disease
#12
V De Iuliis, S Ursi, L M Di Tommaso, M Caruso, A Marino, S D Ercole, S Caputi, B Sinjari, F Festa, M Macri, S Martinotti, G Vitullo, E Toniato
Periodontal disease is an inflammatory disorder affecting the supporting teeth structures, including gingiva, periodontal ligament and alveolar bone, causing loss of connective tissue, reabsorption of alveolar bone and formation of periodontal pockets. The aim of this study is to find a correlation between bacterial growth and periodontal disease. Fifty-seven patients aged between 21 and 65 years, median age 46 years, were enrolled. According to gingival pocket depth, ranging from 3 to 7 mm, patients were divided into two groups: the first (30 patients, 53%) with deep pockets ³ 5 mm and the second (27 patients, 47%) less than 5 mm...
October 2016: Journal of Biological Regulators and Homeostatic Agents
https://www.readbyqxmd.com/read/28077779/embryonic-exposure-to-tcdd-impacts-osteogenesis-of-the-axial-skeleton-in-japanese-medaka-oryzias-latipes
#13
AtLee T D Watson, Antonio Planchart, Carolyn J Mattingly, Christoph Winkler, David M Reif, Seth W Kullman
Recent studies from mammalian, fish, and in vitro models have identified bone and cartilage development as sensitive targets for dioxins and other aryl hydrocarbon receptor ligands. In this study, we assess how embryonic 2,3,7,8-tetrachlorochlorodibenzo-p-dioxin (TCDD) exposure impacts axial osteogenesis in Japanese medaka (Oryzias latipes), a vertebrate model of human bone development. Embryos from inbred wild-type Orange-red Hd-dR and 3 transgenic medaka lines (twist:EGFP, osx/sp7:mCherry, col10a1:nlGFP) were exposed to 0...
November 15, 2016: Toxicological Sciences: An Official Journal of the Society of Toxicology
https://www.readbyqxmd.com/read/28073822/obstructive-sleep-apnoea-and-quality-of-life-in-ehlers-danlos-syndrome-a-parallel-cohort-study
#14
Thomas Gaisl, Cecilia Giunta, Daniel J Bratton, Kate Sutherland, Christian Schlatzer, Noriane Sievi, Daniel Franzen, Peter A Cistulli, Marianne Rohrbach, Malcolm Kohler
BACKGROUND: Patients with the connective tissue disorder Ehlers-Danlos syndrome (EDS) often suffer from fatigue, excessive daytime sleepiness and impaired quality of life. Obstructive sleep apnoea (OSA) may be an underlying cause for these symptoms but its prevalence in this population is unclear. METHODS: In this prospective parallel-cohort study, we included 100 adult patients with EDS (46% hypermobile-type, 35% classical-type and 19% other), which were one-to-one matched to 100 healthy adult controls according to sex, age, weight and height...
January 10, 2017: Thorax
https://www.readbyqxmd.com/read/28073797/physical-and-cultural-determinants-of-postpartum-pelvic-floor-support-and-symptoms-following-vaginal-delivery-a-protocol-for-a-mixed-methods-prospective-cohort-study
#15
Ingrid E Nygaard, Erin Clark, Lauren Clark, Marlene J Egger, Robert Hitchcock, Yvonne Hsu, Peggy Norton, Ana Sanchez-Birkhead, Janet Shaw, Xiaoming Sheng, Michael Varner
INTRODUCTION: Pelvic floor disorders (PFDs), including pelvic organ prolapse (POP), stress and urgency urinary incontinence, and faecal incontinence, are common and arise from loss of pelvic support. Although severe disease often does not occur until women become older, pregnancy and childbirth are major risk factors for PFDs, especially POP. We understand little about modifiable factors that impact pelvic floor function recovery after vaginal birth. This National Institutes of Health (NIH)-funded Program Project, 'Bridging physical and cultural determinants of postpartum pelvic floor support and symptoms following vaginal delivery', uses mixed-methods research to study the influences of intra-abdominal pressure, physical activity, body habitus and muscle fitness on pelvic floor support and symptoms as well as the cultural context in which women experience those changes...
January 10, 2017: BMJ Open
https://www.readbyqxmd.com/read/28066892/asbestos-fibres-detected-by-scanning-electron-microscopy-in-the-gallbladder-of-patients-with-malignant-pleural-mesothelioma-mpm
#16
F Grosso, A Croce, N F Trincheri, N Mariani, R Libener, D Degiovanni, C Rinaudo
Gallbladders from patients affected by both malignant pleural mesothelioma (MPM) and important gallbladder disorders were analyzed to verify the presence of asbestos fibres. Histological thin sections were analyzed by optical microscope and variable pressure scanning electron microscopy coupled with energy dispersive spectroscopy, allowing morphological and chemical characterization of each inorganic phase observed. Fibres of chrysotile and crocidolite, minerals regulated as asbestos, were identified. By immunohistochemical analysis, connective tissue was recognized as the incorporation site...
January 9, 2017: Journal of Microscopy
https://www.readbyqxmd.com/read/28065612/vertebral-tortuosity-index-in-patients-with-non-connective-tissue-disorder-related-aneurysm-disease
#17
F Virgilio, B Maurel, M Davis, G Hamilton, T M Mastracci
OBJECTIVE: The vertebral tortuosity index (VTI) predicts increased risk of acute aortic events in patients with known genetic aortopathies. This study describes the VTI in a cohort of patients with non-connective tissue disorder-related large aneurysms. METHODS: Hospital imaging records from July 2012 to March 2016 were interrogated to identify patients with aneurysmal disease who had undergone computed tomographic angiography that included imaging of vertebral arteries...
January 5, 2017: European Journal of Vascular and Endovascular Surgery
https://www.readbyqxmd.com/read/28065444/investigating-patient-narratives-posted-on-internet-and-their-informativeness-level-for-pharmacovigilance-purpose-the-example-of-comments-about-statins
#18
Farid Kheloufi, Anne Default, Olivier Blin, Joelle Micallef
AIM OF THE STUDY: Health-related networks like patient health forums may be considered as potential sources of information to early detect pharmacovigilance issues or complete data on drug safety. However, the clinical and pharmacological relevancy of such a source has not been clearly explored. We aimed to describe the characteristics and the informativeness level of Internet narratives posted by patients and mentioning adverse drug reactions (ADRs) related to statins. METHODS: A retrospective cross-sectional study was conducted on an Internet website dedicated to share experience on medicines...
December 9, 2016: Thérapie
https://www.readbyqxmd.com/read/28063071/interstitial-lung-disease-in-systemic-sclerosis-current-and-future-treatment
#19
REVIEW
Roberto Giacomelli, Vasiliki Liakouli, Onorina Berardicurti, Piero Ruscitti, Paola Di Benedetto, Francesco Carubbi, Giuliana Guggino, Salvatore Di Bartolomeo, Francesco Ciccia, Giovanni Triolo, Paola Cipriani
Systemic sclerosis (SSc) has the highest fatality rate among connective tissue diseases and is characterized by vascular damage, inflammation and fibrosis of the skin and various internal organs. Interstitial lung disease (ILD) frequently complicates SSc and can be a debilitating disorder with a poor prognosis. ILD is the most frequent cause of death in SSc, and the management of SSc-ILD patients is a great challenge. Early detection of pulmonary involvement based on a recent decline of lung function tests and on the extent of lung involvement at high-resolution computed tomography is critical for the best management of these patients...
January 6, 2017: Rheumatology International
https://www.readbyqxmd.com/read/28062601/bleeding-disorders-in-congenital-syndromes
#20
REVIEW
Susmita N Sarangi, Suchitra S Acharya
Pediatricians provide a medical home for children with congenital syndromes who often need complex multidisciplinary care. There are some syndromes associated with thrombocytopenia, inherited platelet disorders, factor deficiencies, connective tissue disorders, and vascular abnormalities, which pose a real risk of bleeding in affected children associated with trauma or surgeries. The risk of bleeding is not often an obvious feature of the syndrome and not well documented in the literature. This makes it especially hard for pediatricians who may care for a handful of children with these rare congenital syndromes in their lifetime...
January 6, 2017: Pediatrics
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