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https://www.readbyqxmd.com/read/29780721/type-b-aortic-dissection-new-perspectives
#1
REVIEW
Marc A A M Schepens
Background: Stanford type B aortic dissection is one of the aortic catastrophes with a high mortality and morbidity that needs immediate or delayed treatment, either surgically or endovascularly. This comprehensive review article addresses the current status of open, endovascular and hybrid treatment options for type B aortic dissections with the focus on new therapeutic perspectives. Methods: Evaluation of currently available evidence based on randomized and registry data and personal experience...
2018: Journal of Visualized Surgery
https://www.readbyqxmd.com/read/29778910/a-case-of-vascular-ehlers-danlos-syndrome-with-a-cardiomyopathy-and-multi-system-involvement
#2
Nick Si Rui Lan, Michael Fietz, Nicholas Pachter, Vincent Paul, David Playford
Ehlers-Danlos Syndrome comprises a heterogeneous group of heritable connective tissue disorders resulting from various gene mutations. We present an unusual case of vascular Ehlers-Danlos Syndrome with distinctive physical characteristics and a cardiomyopathy with features suggesting isolated left ventricular non-compaction. The cardiac features represent the first report of a cardiomyopathy associated with a mutation in the COL3A1 gene. This case also illustrates the multi-system nature of Ehlers-Danlos Syndrome and the complexity of managing patients with the vascular subtype...
April 24, 2018: Cardiovascular Pathology: the Official Journal of the Society for Cardiovascular Pathology
https://www.readbyqxmd.com/read/29770238/charlson-comorbidity-index-as-a-predictor-of-periodontal-disease-in-elderly-participants
#3
Jae-Hong Lee, Jung-Kyu Choi, Seong-Nyum Jeong, Seong-Ho Choi
Purpose: This study investigated the validity of the Charlson comorbidity index (CCI) as a predictor of periodontal disease (PD) over a 12-year period. Methods: Nationwide representative samples of 149,785 adults aged ≥60 years with PD (International Classification of Disease, 10th revision [ICD-10], K052-K056) were derived from the National Health Insurance Service-Elderly Cohort during 2002-2013. The degree of comorbidity was measured using the CCI (grade 0-6), including 17 diseases weighted on the basis of their association with mortality, and data were analyzed using multivariate Cox proportional-hazards regression in order to investigate the associations of comorbid diseases (CDs) with PD...
April 2018: Journal of Periodontal & Implant Science
https://www.readbyqxmd.com/read/29769017/a-cross-sectional-investigation-of-the-health-needs-of-asylum-seekers-in-a-refugee-clinic-in-germany
#4
Laura F Goodman, Guy W Jensen, Joseph M Galante, Diana L Farmer, Stephanie Taché
BACKGROUND: Over one million asylum seekers were registered in Germany in 2016, most from Syria and Afghanistan. The Refugee Convention guarantees access to healthcare, however delivery mechanisms remain heterogeneous. There is an urgent need for more data describing the health conditions of asylum seekers to guide best practices for healthcare delivery. In this study, we describe the state of health of asylum seekers presenting to a multi-specialty primary care refugee clinic. METHODS: Demographic and medical diagnosis data were extracted from the electronic medical records of patients seen at the ambulatory refugee clinic in Dresden, Germany between 15 September 2015 and 31 December 2016...
May 16, 2018: BMC Family Practice
https://www.readbyqxmd.com/read/29768367/the-phenotypic-heterogeneity-of-patients-with-marfan-related-disorders-and-their-variant-spectrums
#5
Go Hun Seo, Yoon-Myung Kim, Eungu Kang, Gu-Hwan Kim, Eul-Ju Seo, Beom Hee Lee, Jin-Ho Choi, Han-Wook Yoo
Marfan syndrome (MFS) and Loeys-Dietz syndrome (LDS) are the connective tissue disorders characterized by aortic root aneurysm and/or dissection and various additional features. We evaluated the correlation of these mutations with the phenotypes and determined the clinical applicability of the revised Ghent criteria.The mutation spectrum and phenotypic heterogeneities of the 83 and 5 Korean patients with suspected MFS and LDS were investigated as a retrospective manner. In patients with suspected MFS patients, genetic testing was conducted in half of 44 patients who met the revised Ghent criteria clinically and half of 39 patients who did not meet these criteria...
May 2018: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29760619/adamts13-deficiency-and-immunological-abnormalities-in-patients-with-systemic-sclerosis
#6
Zofia Gerlicz-Kowalczuk, Jolanta D Torzecka, Elżbieta Dziankowska-Zaborszczyk, Alicja Ograczyk, Anna M Zalewska-Janowska, Anna Woźnicka, Bożena Dziankowska-Bartkowiak
Introduction: Systemic sclerosis (SSc) is a chronic autoimmune connective tissue disorder characterized by immunological deviations and generalized microvascular damage. Aim: To determine the serum level of the von Willebrand factor cleaving protease (ADAMTS13) in 39 SSc patients and healthy controls. Material and methods: ADAMTS13 serum level was determined in 39 SSc patients and 11 healthy controls. Complete history of the patients was recorded and thorough clinical, rheumatological, and dermatological examinations were performed...
April 2018: Postȩpy Dermatologii i Alergologii
https://www.readbyqxmd.com/read/29760442/cross-ancestry-genome-wide-association-analysis-of-corneal-thickness-strengthens-link-between-complex-and-mendelian-eye-diseases
#7
Adriana I Iglesias, Aniket Mishra, Veronique Vitart, Yelena Bykhovskaya, René Höhn, Henriët Springelkamp, Gabriel Cuellar-Partida, Puya Gharahkhani, Jessica N Cooke Bailey, Colin E Willoughby, Xiaohui Li, Seyhan Yazar, Abhishek Nag, Anthony P Khawaja, Ozren Polašek, David Siscovick, Paul Mitchell, Yih Chung Tham, Jonathan L Haines, Lisa S Kearns, Caroline Hayward, Yuan Shi, Elisabeth M van Leeuwen, Kent D Taylor, Pieter Bonnemaijer, Jerome I Rotter, Nicholas G Martin, Tanja Zeller, Richard A Mills, Sandra E Staffieri, Jost B Jonas, Irene Schmidtmann, Thibaud Boutin, Jae H Kang, Sionne E M Lucas, Tien Yin Wong, Manfred E Beutel, James F Wilson, André G Uitterlinden, Eranga N Vithana, Paul J Foster, Pirro G Hysi, Alex W Hewitt, Chiea Chuen Khor, Louis R Pasquale, Grant W Montgomery, Caroline C W Klaver, Tin Aung, Norbert Pfeiffer, David A Mackey, Christopher J Hammond, Ching-Yu Cheng, Jamie E Craig, Yaron S Rabinowitz, Janey L Wiggs, Kathryn P Burdon, Cornelia M van Duijn, Stuart MacGregor
Central corneal thickness (CCT) is a highly heritable trait associated with complex eye diseases such as keratoconus and glaucoma. We perform a genome-wide association meta-analysis of CCT and identify 19 novel regions. In addition to adding support for known connective tissue-related pathways, pathway analyses uncover previously unreported gene sets. Remarkably, >20% of the CCT-loci are near or within Mendelian disorder genes. These included FBN1, ADAMTS2 and TGFB2 which associate with connective tissue disorders (Marfan, Ehlers-Danlos and Loeys-Dietz syndromes), and the LUM-DCN-KERA gene complex involved in myopia, corneal dystrophies and cornea plana...
May 14, 2018: Nature Communications
https://www.readbyqxmd.com/read/29758347/gene-analysis-a-rare-gene-disease-of-intellectual-deficiency-cohen-syndrome
#8
Chengqing Yang, Mei Hou, Yutang Li, Dianrong Sun, Ya Guo, Peipei Liu, Yedan Liu, Jie Song, Na Zhang, Wei Wei, Zongbo Chen
Cohen syndrome is a rare, genetic, connective-tissue disorder, which is caused by mutations in the gene COH1 (VPS13B, Vacuolar Protein Sorting 13 Homolog B) at the chromosome 8q22. The disease is rare reported, which major clinical features include postnatal microcephaly, obesity, short stature, intellectual disability, progressive retinal dystrophy, intermittent neutropenia and many other unusual facial feature. We report four patients in China who were diagnosed with Cohen syndrome by genetic testing and clinical manifestations...
May 11, 2018: International Journal of Developmental Neuroscience
https://www.readbyqxmd.com/read/29754515/spontaneous-direct-carotid-cavernous-sinus-fistula-secondary-to-a-persistent-primitive-trigeminal-artery-treated-by-trans-venous-coil-embolisation
#9
Andrew Imrie, Kendal Redmond, David Leggett
A healthy 51-year-old female presented with a spontaneous direct carotid-cavernous sinus fistula associated with a persistent primitive trigeminal artery. She had no history of connective tissue or cerebrovascular disorders or significant head trauma. This is a rare lesion with only 18 previously reported cases. It had similar clinical presentation and imaging appearance to a high-flow direct carotid-cavernous fistula and was uncovered after successful trans-venous coil embolisation of the fistula. It therefore needs to be considered in cases of direct carotid-cavernous fistula without history of trauma...
January 1, 2018: Interventional Neuroradiology
https://www.readbyqxmd.com/read/29745875/interstitial-lung-disease-in-patients-with-mixed-connective-tissue-disease-pilot-study-on-predictors-of-lung-involvement
#10
Neha Narula, Tathagat Narula, Isabel Mira-Avendano, Benjamin Wang, Andy Abril
OBJECTIVES: Mixed connective tissue disease (MCTD) is an immune-mediated systemic disorder characterised by serum autoantibodies against U1-ribonucleoprotein and diverse multisystemic clinical manifestations. Approximately 50% of patients with MCTD develop a radiologic pattern of interstitial lung disease (ILD). Our single centre, cross-sectional study sought to identify clinical and serologic associations of ILD in patients with MCTD which may serve as predictors of lung disease and prognosis...
May 8, 2018: Clinical and Experimental Rheumatology
https://www.readbyqxmd.com/read/29744685/outgrowth-of-rice-tillers-requires-availability-of-glutamine-in-the-basal-portions-of-shoots
#11
Miwa Ohashi, Keiki Ishiyama, Soichi Kojima, Noriyuki Konishi, Kazuhiro Sasaki, Mitsue Miyao, Toshihiko Hayakawa, Tomoyuki Yamaya
BACKGROUND: Our previous studies concluded that metabolic disorder in the basal portions of rice shoots caused by a lack of cytosolic glutamine synthetase1;2 (GS1;2) resulted in a severe reduction in the outgrowth of tillers. Rice mutants lacking GS1;2 (gs1;2 mutants) showed a remarkable reduction in the contents of both glutamine and asparagine in the basal portions of shoots. In the current study, we attempted to reveal the mechanisms for this decrease in asparagine content using rice mutants lacking either GS1;2 or asparagine synthetase 1 (AS1)...
May 9, 2018: Rice
https://www.readbyqxmd.com/read/29742657/obstetric-management-of-loeys-dietz-syndrome
#12
Melissa L Russo, Neelima Sukhavasi, Veena Mathur, Shaine A Morris
BACKGROUND: Loeys-Dietz syndrome is associated with arterial tortuosity and aortic dissection. Pregnancy may be a period of increased risk for aortic dissection. CASE: A 16-year-old primigravid girl was referred to our center with a family history of aortic dissection. Loeys-Dietz syndrome was suspected, and genetic testing confirmed the TGFβ2 (c.988C>T) mutation. A cesarean delivery was performed at 36 weeks of gestation, with no cardiovascular complications...
May 7, 2018: Obstetrics and Gynecology
https://www.readbyqxmd.com/read/29740582/anti-high-density-lipoprotein-antibodies-and-antioxidant-dysfunction-in-immune-driven-diseases
#13
Javier Rodríguez-Carrio, Lourdes Mozo, Patricia López, Elena Nikiphorou, Ana Suárez
Introduction: Impaired high-density lipoprotein (HDL) levels and antioxidant functionality of HDL, mainly attributed to a decreased paraoxonase-1 (PON1) functionality, have been described in autoimmune conditions. In this setting, a role for humoral response in cardiovascular disease is emerging. This study evaluates the role of immunoglobulin G (IgG) antibodies against HDL and disease-related autoantibodies on HDL dysfunction in immune-driven diseases. Methods: Serum IgG anti-HDL antibodies, PON1 activity, and total antioxidant capacity (TAC) were quantified in 381 patients with different immune-driven diseases [18 mixed connective tissue disease (MCTD), 35 primary Sjögren syndrome (pSS), 38 systemic sclerosis (SSc), 33 ANCA-associated vasculitis (AAV), 60 diabetes mellitus 1, 29 autoimmune B12 deficiency/pernicious anemia, 29 primary biliary cirrhosis, 46 IBD/Crohn, 54 IBD/UC, and 39 celiac disease (CD)] and 138 healthy controls...
2018: Frontiers in Medicine
https://www.readbyqxmd.com/read/29739987/essential-role-of-connective-tissue-growth-factor-ctgf-in-transforming-growth-factor-%C3%AE-1-tgf-%C3%AE-1-induced-myofibroblast-transdifferentiation-from-graves-orbital-fibroblasts
#14
Chieh-Chih Tsai, Shi-Bei Wu, Hui-Chuan Kau, Yau-Huei Wei
Connective tissue growth factor (CTGF) associated with transforming growth factor-β (TGF-β) play a pivotal role in the pathophysiology of many fibrotic disorders. However, it is not clear whether this interaction also takes place in GO. In this study, we investigated the role of CTGF in TGF-β-induced extracellular matrix production and myofibroblast transdifferentiation in Graves' orbital fibroblasts. By Western blot analysis, we demonstrated that TGF-β1 induced the expression of CTGF, fibronectin, and alpha-smooth muscle actin (α-SMA) in Graves' orbital fibroblasts...
May 8, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29739703/hippo-signaling-key-emerging-pathway-in-cellular-and-whole-body-metabolism
#15
REVIEW
Amin Ardestani, Blaz Lupse, Kathrin Maedler
The evolutionarily conserved Hippo pathway is a key regulator of organ size and tissue homeostasis. Its dysregulation is linked to multiple pathological disorders. In addition to regulating development and growth, recent studies show that Hippo pathway components such as MST1/2 and LATS1/2 kinases, as well as YAP/TAZ transcriptional coactivators, are regulated by metabolic pathways and that the Hippo pathway controls metabolic processes at the cellular and organismal levels in physiological and metabolic disease states such as obesity, type 2 diabetes (T2D), nonalcoholic fatty liver disease (NAFLD), cardiovascular disorders, and cancer...
May 5, 2018: Trends in Endocrinology and Metabolism: TEM
https://www.readbyqxmd.com/read/29734195/tenascin-x-congenital-adrenal-hyperplasia-and-the-cah-x-syndrome
#16
Walter L Miller, Deborah P Merke
Mutations of the CYP21A2 gene encoding adrenal 21-hydroxylase cause congenital adrenal hyperplasia (CAH). The CYP21A2 gene is partially overlapped by the TNXB gene, which encodes an extracellular matrix protein called Tenascin-X (TNX). Mutations affecting both alleles of TNXB cause a severe, autosomal recessive form of Ehlers-Danlos syndrome (EDS). Rarely, patients with severe, salt-wasting CAH have deletions of CYP21A2 that extend into TNXB, resulting in a "contiguous gene syndrome" consisting of CAH and EDS...
May 7, 2018: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/29733804/bilateral-dislocation-of-the-temporomandibular-joint-in-children
#17
REVIEW
Ludovic Sicard, Diane O'Hana, Roman Hossein Khonsari, Abdelkhaled Kaddour Brahim
PURPOSE: Bilateral nontraumatic temporomandibular joint (TMJ) dislocation is an acute situation that can lead to a chronic and recurrent condition. Few pediatric cases have been reported in the literature and no standardized care protocol has been established to date. MATERIALS AND METHODS: Two cases of chronic bilateral dislocation of the TMJ in young children are reported and their medical management is discussed based on data from the literature. RESULTS: ▪▪▪...
April 11, 2018: Journal of Oral and Maxillofacial Surgery
https://www.readbyqxmd.com/read/29730004/in-vitro-and-in-vivo-characterization-of-quercetin-loaded-multiphase-hydrogel-for-wound-healing-application
#18
Rajendra Jangde, Shikha Srivastava, Manju R Singh, Deependra Singh
The present work aim to prepare and evaluate multiphase hydrogel system incorporated with quercetin loaded liposomes (QLH), for wound healing. The quercetin loaded liposomal hydrogel were prepared by taking 15% carbopol and varying gelatin ratio. The clear and transparent hydrogel was obtained by taking ratio of gelatin to carbapol (6/4) compared to other ratios. The best prepared hydrogel were characterized for surface morphology, water vapor transmission rate (WVTR), swelling ratio, hemocompatibility, stability, in-vitro release and in-vivo studies...
May 3, 2018: International Journal of Biological Macromolecules
https://www.readbyqxmd.com/read/29729708/expression-of-extracellular-matrix-and-adhesion-proteins-in-pelvic-organ-prolapse
#19
Monica Cecati, Alessandra Corradetti, Davide Sartini, Valentina Pozzi, Stefano R Giannubilo, Franca Saccucci, Andrea Ciavattini, Monica Emanuelli
Pelvic organ prolapse (POP) is a common disorder in women. It is characterized by the descent of the vaginal wall with consequent drop of pelvic organs. Pregnancy, labour and childbirth seem to be important events leading to the development of POP, since they are associated with prolonged stretch and mechanical stress of muscles, ligaments and connective tissue supporting pelvic organs. In pubocervical fascia, we explored the expression level of extracellular matrix and adhesion molecules. Tissue samples were obtained from twenty patients with POP who underwent cystocele repair, and from twenty control subjects during hysterectomy surgery...
April 30, 2018: Cellular and Molecular Biology
https://www.readbyqxmd.com/read/29726037/pseudoaneurysm-formation-after-valve-sparing-root-replacement-in-children-with-loeys-dietz-syndrome
#20
Rui H Liu, Charles D Fraser, Xun Zhou, Duke E Cameron, Luca A Vricella, Narutoshi Hibino
BACKGROUND: Loeys-Dietz syndrome (LDS) is an autosomal dominant connective tissue disorder predisposing patients to aneurysm formation and arterial dissection. Aortic root replacement is often performed prophylactically and valve-sparing root replacement (VSRR) has become the procedure of choice. However, in these patients with connective tissue disorders, postoperative pseudoaneurysms may develop. METHODS: All children with LDS undergoing VSRR at a single institution were retrospectively reviewed to identify patients who developed postoperative pseudoaneurysms...
May 3, 2018: Journal of Cardiac Surgery
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