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https://www.readbyqxmd.com/read/28633258/stepwise-total-aortic-repairs-with-fenestrated-endografts-in-a-patient-with-loeys-dietz-syndrome
#1
Kenichi Hashizume, Hideyuki Shimizu, Masanori Honda, Shinya Inoue, Hidenobu Takaki, Kanako Hayashi, Hiroaki Kaneyama
Loeys-Dietz syndrome (LDS) is a rare connective tissue disorder (CTD) caused by mutations in the gene encoding transforming growth factor-β receptors Ⅰ and Ⅱ. Patients with LDS manifest spontaneous aneurysms and dissections of the aorta and peripheral artery. We report a successful treatment with a hybrid endovascular repair for a rapidly expanding thoracoabdominal aneurysm in a 41-year-old woman affected by LDS. To overcome the difficulties of anatomical and surgical repair, we applied an original strategy using surgeon-modified fenestrated endografts...
July 2017: Annals of Thoracic Surgery
https://www.readbyqxmd.com/read/28625845/injury-and-defective-regeneration-of-the-epithelial-basement-membrane-in-corneal-fibrosis-a-paradigm-for-fibrosis-in-other-organs
#2
REVIEW
Steven E Wilson, Gustavo K Marino, Andre A M Torricelli, Carla S Medeiros
Myofibroblast-mediated fibrosis is important in the pathophysiology of diseases in most organs. The cornea, the transparent anterior wall of the eye that functions to focus light on the retina, is commonly affected by fibrosis and provides an optimal model due to its simplicity and accessibility. Severe injuries to the cornea, including infection, surgery, and trauma, may trigger the development of myofibroblasts and fibrosis in the normally transparent connective tissue stroma. Ultrastructural studies have demonstrated that defective epithelial basement membrane (EBM) regeneration after injury underlies the development of myofibroblasts from both bone marrow- and keratocyte-derived precursor cells in the cornea...
June 15, 2017: Matrix Biology: Journal of the International Society for Matrix Biology
https://www.readbyqxmd.com/read/28619061/rituximab-versus-cyclophosphamide-for-the-treatment-of-connective-tissue-disease-associated-interstitial-lung-disease-recital-study-protocol-for-a-randomised-controlled-trial
#3
Peter Saunders, Vicky Tsipouri, Gregory J Keir, Deborah Ashby, Marcus D Flather, Helen Parfrey, Daphne Babalis, Elisabetta A Renzoni, Christopher P Denton, Athol U Wells, Toby M Maher
BACKGROUND: Interstitial lung disease (ILD) frequently complicates systemic autoimmune disorders resulting in considerable morbidity and mortality. The connective tissue diseases (CTDs) most frequently resulting in ILD include: systemic sclerosis, idiopathic inflammatory myositis (including dermatomyositis, polymyositis and anti-synthetase syndrome) and mixed connective tissue disease. Despite the development, over the last two decades, of a range of biological therapies which have resulted in significant improvements in the treatment of the systemic manifestations of CTD, the management of CTD-associated ILD has changed little...
June 15, 2017: Trials
https://www.readbyqxmd.com/read/28618531/noise-focusing-in-neuronal-tissues-symmetry-breaking-and-localization-in-excitable-networks-with-quenched-disorder
#4
Javier G Orlandi, Jaume Casademunt
We introduce a coarse-grained stochastic model for the spontaneous activity of neuronal cultures to explain the phenomenon of noise focusing, which entails localization of the noise activity in excitable networks with metric correlations. The system is modeled as a continuum excitable medium with a state-dependent spatial coupling that accounts for the dynamics of synaptic connections. The most salient feature is the emergence at the mesoscale of a vector field V(r), which acts as an advective carrier of the noise...
May 2017: Physical Review. E
https://www.readbyqxmd.com/read/28617417/a-cohort-of-17-patients-with-kyphoscoliotic-ehlers-danlos-syndrome-caused-by-biallelic-mutations-in-fkbp14-expansion-of-the-clinical-and-mutational-spectrum-and-description-of-the-natural-history
#5
Cecilia Giunta, Matthias Baumann, Christine Fauth, Uschi Lindert, Ebtesam M Abdalla, Angela F Brady, James Collins, Jahannaz Dastgir, Sandra Donkervoort, Neeti Ghali, Diana S Johnson, Ariana Kariminejad, Johannes Koch, Marius Kraenzlin, Nayana Lahiri, Bernarda Lozic, Adnan Y Manzur, Jenny E V Morton, Jacek Pilch, Rebecca C Pollitt, Gudrun Schreiber, Nora L Shannon, Glenda Sobey, Anthony Vandersteen, Fleur S van Dijk, Martina Witsch-Baumgartner, Johannes Zschocke, F Michael Pope, Carsten G Bönnemann, Marianne Rohrbach
PurposeIn 2012 we reported in six individuals a clinical condition almost indistinguishable from PLOD1-kyphoscoliotic Ehlers-Danlos syndrome (PLOD1-kEDS), caused by biallelic mutations in FKBP14, and characterized by progressive kyphoscoliosis, myopathy, and hearing loss in addition to connective tissue abnormalities such as joint hypermobility and hyperelastic skin. FKBP14 is an ER-resident protein belonging to the family of FK506-binding peptidyl-prolyl cis-trans isomerases (PPIases); it catalyzes the folding of type III collagen and interacts with type III, type VI, and type X collagens...
June 15, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28611929/epidural-anesthesia-for-cesarean-section-in-a-pregnant-woman-with-marfan-syndrome-and-dural-ectasia
#6
Franco Pepe, Mariagrazia Stracquadanio, Francesco De Luca, Agata Privitera, Elisabetta Sanalitro, Puccio Scarpinati
Marfan syndrome (MFS) is a genetic disorder of connective tissue, characterized by variable clinical features and multisystem complications. The anesthetic management during delivery is debated. Regional anesthesia has been used with success during cesarean delivery, but in some MFS patients there is a probability of erratic and inadequate spread of intrathecal local anesthetics as a result of dural ectasia. In these cases, epidural anesthesia may be a particularly useful technique during cesarean delivery because it allows an adequate spread and action of local anesthetic with a controlled onset of anesthesia, analgesia, and sympathetic block and a low risk of perioperative complications...
2017: Case Reports in Obstetrics and Gynecology
https://www.readbyqxmd.com/read/28609277/corino-de-andrade-disease-mechanisms-and-impact-on-reproduction
#7
REVIEW
Rita A Lopes, Teresa Coelho, Alberto Barros, Mário Sousa
Familial amyloid polyneuropathy was first described by Corino de Andrade in 1952 in Northern Portugal. It is a fatal autosomal dominant neurodegenerative disorder characterized by a progression of neurologic symptoms, beginning early in the reproductive life. The Transthyretin gene mutation originates a mutated protein that precipitates in the connective tissue as amyloid deposits. This disease is presently named Transthyretin-related hereditary amyloidosis. We performed an extensive review on this disease based on searches in Medical databases and in paper references...
June 1, 2017: JBRA Assisted Reproduction
https://www.readbyqxmd.com/read/28608202/zymography-as-a-research-tool-in-the-study-of-matrix-metalloproteinase-inhibitors
#8
Zongli Ren, Juanjuan Chen, Raouf A Khalil
Matrix metalloproteinases (MMPs) are proteolytic enzymes that degrade various components of the extracellular matrix (ECM) and play a role in tissue remodeling. Changes in MMPs have been observed in cancer, connective tissue disorders, and vascular disease, and both endogenous tissue inhibitors of MMPs (TIMPs) and synthetic MMP inhibitors (MMPIs) have been evaluated as modulators of MMP activity in various biological systems. Zymography is a simple technique that is commonly used to assess MMP activity and the efficacy of MMPIs...
2017: Methods in Molecular Biology
https://www.readbyqxmd.com/read/28606036/scleroderma-like-disorders
#9
Amit Sharma
Scleroderma is a term used to describe diseases that involve hardening and tightening of the skin and the underlying subcutaneous connective tissue. It could be localized to skin and subcutaneous tissue, or may involve the internal organs too in systemic sclerosis. There are disorders that can cause hardening and tightening of skin and mimic scleroderma but are rarely associated with Raynaud phenomenon, sclerodactyly, and autoantibodies in the serum, features specific to scleroderma/systemic sclerosis. These are termed as "scleroderma variants" or "scleroderma like disorders"...
June 11, 2017: Current Rheumatology Reviews
https://www.readbyqxmd.com/read/28604473/perioperative-anesthetic-management-for-cesarean-delivery-in-a-parturient-with-type-iv-loeys-dietz-syndrome-a-case-report
#10
Ravish Kapoor, David G Mann, Emad B Mossad
Loeys-Dietz syndrome (LDS) is a rare connective tissue disorder predisposing to aortic and arterial aneurysms. Presentations are classified into subtypes based on gene mutations. Pregnancy in patients with LDS is considered very high risk due to the potential for aortic dissection and uterine rupture. We report successful management of an elective cesarean delivery in a 16-year-old patient with LDS type IV using epidural anesthesia. Perioperative considerations and multidisciplinary management specific to taking care of parturients with LDS are discussed...
June 8, 2017: A & A Case Reports
https://www.readbyqxmd.com/read/28593527/role-of-cacna1c-gene-polymorphisms-and-protein-expressions-in-the-pathogenesis-of-schizophrenia-a-case-control-study-in-a-chinese-population
#11
Sheng-Yu Zhang, Qiang Hu, Tao Tang, Chao Liu, Cheng-Chong Li, Xiao-Guang Yang, Yin-Yin Zang, Wei-Xiong Cai
The study aimed to investigate the correlations of CACNA1C genetic polymorphisms and protein expression with the pathogenesis of schizophrenia in a Chinese population. This research included 139 patients diagnosed with schizophrenia (case group) and 141 healthy volunteers (control group). Case and control samples were genotyped using denaturing high-performance liquid chromatography (DHPLC). Haplotypes of rs10848683, rs2238032, and rs2299661 were analyzed using the Shesis software. A mouse model of schizophrenia was established and assigned to test and blank groups...
June 7, 2017: Neurological Sciences
https://www.readbyqxmd.com/read/28588436/novel-marfan-syndrome-associated-mutation-in-the-fbn1-gene-caused-by-parental-mosaicism-and-leading-to-abnormal-limb-patterning
#12
Efrén Martínez-Quintana, Noemí Caballero-Sánchez, Fayna Rodríguez-González, Paloma Garay-Sánchez, Antonio Tugores
Marfan syndrome is an autosomal dominant disorder of the connective tissue caused by mutations in the fibrillin-1 (FBN1) gene. Mutations affecting cysteine residues within the epidermal growith factor-like calcium-binding domains (EGF_CA) of FBN1 are associated with Marfan syndrome features and, especially, with ectopia lentis. We report a novel substitution, affecting the first cysteine of an EGF_CA-binding module encoded by exon 63 of FBN1 (C2571Y), in a patient presenting with typical Marfan syndrome features but without ectopia lentis...
May 2017: Molecular Syndromology
https://www.readbyqxmd.com/read/28585997/diagnosis-and-management-of-traumatic-patellar-instability-in-the-pediatric-patient
#13
Steven F DeFroda, Joseph A Gil, Alex Boulos, Aristides I Cruz
Instability of the patella is a common cause of knee pain and dysfunction in pediatric and adolescent patients and can be due to several factors. Although some patients will recall a specific traumatic event others may not, requiring the diagnosis to be made on the basis of physical examination and imaging. Congenital dislocation and connective tissue disorders should also be considered, even in the setting of trauma. There are radiographic parameters that may identify causes of instability such as trochlear and patellar abnormalities, and magnetic resonance imaging can identify signs of trauma such as bony edema, loose osteochondral fragments, and increased tibial tubercle-trochlear groove distance...
June 6, 2017: Orthopedics
https://www.readbyqxmd.com/read/28584496/marfan-syndrome
#14
T Sivasankari, Philips Mathew, Ravi David Austin, Sakthi Devi
Marfan syndrome (MFS) is the autosomal dominant-inherited multisystem connective-tissue disorder, with a reported incidence of 1 in 10,000 individuals and equal distribution in both genders. The main clinical manifestation of this disorder consists of an exaggerated length of the upper and lower limbs, hyperlaxity, scoliosis, alterations in the cardiovascular and pulmonary systems, and atypical bone overgrowth. Orofacial manifestations such as high-arched palate, hypodontia, long narrow teeth, bifid uvula, mandibular prognathism, and temporomandibular disorders are also common...
January 2017: Journal of Pharmacy & Bioallied Sciences
https://www.readbyqxmd.com/read/28584245/immune-signatures-of-pathogenesis-in-the-peritoneal-compartment-during-early-infection-of-sheep-with-fasciola-hepatica
#15
Maria Teresa Ruiz-Campillo, Veronica Molina Hernandez, Alejandro Escamilla, Michael Stevenson, Jose Perez, Alvaro Martinez-Moreno, Sheila Donnelly, John P Dalton, Krystyna Cwiklinski
Immune signatures of sheep acutely-infected with Fasciola hepatica, an important pathogen of livestock and humans were analysed within the peritoneal compartment to investigate early infection. Within the peritoneum, F. hepatica antibodies coincided with an intense innate and adaptive cellular immune response, with infiltrating leukocytes and a marked eosinophilia (49%). However, while cytokine qPCR analysis revealed IL-10, IL-12, IL-13, IL-23 and TGFβ were elevated, these were not statistically different at 18 days post-infection compared to uninfected animals indicating that the immune response is muted and not yet skewed to a Th2 type response that is associated with chronic disease...
June 5, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28583883/preferential-susceptibility-of-limbic-cortices-to-microstructural-damage-in-temporal-lobe-epilepsy-a-quantitative-t1-mapping-study
#16
REVIEW
Boris C Bernhardt, Fatemeh Fadaie, Reinder Vos De Wael, Seok-Jun Hong, Min Liu, Marie C Guiot, David A Rudko, Andrea Bernasconi, Neda Bernasconi
The majority of MRI studies in temporal lobe epilepsy (TLE) have utilized morphometry to map widespread cortical alterations. Morphological markers, such as cortical thickness or grey matter density, reflect combinations of biological events largely driven by overall cortical geometry rather than intracortical tissue properties. Because of its sensitivity to intracortical myelin, quantitative measurement of longitudinal relaxation time (qT1) provides and an in vivo proxy for cortical microstructure. Here, we mapped the regional distribution of qT1 in a consecutive cohort of 24 TLE patients and 20 healthy controls...
June 3, 2017: NeuroImage
https://www.readbyqxmd.com/read/28582512/minimally-invasive-mitral-valve-repair-in-osteogenesis-imperfecta
#17
Isabella Tagliasacchi, Luigi Martinelli, Leopoldo Bardaro, Sergio Chierchia
Osteogenesis imperfecta is a disorder of the connective tissue that affects several structures including heart valves. However, cardiac surgery is associated with high mortality and morbidity rates. In a 48-year-old man with osteogenesis imperfecta and mitral valve prolapse, we performed the first successful mitral valve repair by right anterior mini-thoracotomy. At the 1-year follow-up, he was asymptomatic and echocardiography confirmed the initial success.
June 5, 2017: Interactive Cardiovascular and Thoracic Surgery
https://www.readbyqxmd.com/read/28572048/the-role-of-endothelial-cells-in-the-vasculopathy-of-systemic-sclerosis-a-systematic-review
#18
REVIEW
Y Mostmans, M Cutolo, C Giddelo, S Decuman, K Melsens, H Declercq, E Vandecasteele, F De Keyser, O Distler, J Gutermuth, V Smith
INTRODUCTION: Systemic sclerosis (SSc) is an autoimmune connective tissue disorder characterized by fibroproliferative vasculopathy, immunological abnormalities and progressive fibrosis of multiple organs including the skin. In this study, all English speaking articles concerning the role of endothelial cells (ECs) in SSc vasculopathy and representing biomarkers are systematically reviewed and categorized according to endothelial cell (EC) (dys)function in SSc. METHODS: A sensitive search on behalf of the EULAR study group on microcirculation in Rheumatic Diseases was developed in Pubmed, The Cochrane Library and Web of Science to identify articles on SSc vasculopathy and the role of ECs using the following Mesh terms: (systemic sclerosis OR scleroderma) AND pathogenesis AND (endothelial cells OR marker)...
May 29, 2017: Autoimmunity Reviews
https://www.readbyqxmd.com/read/28570239/spontaneous-coronary-artery-dissection-after-pregnancy-as-first-manifestation-of-a-vascular-ehlers-danlos-syndrome
#19
Alberto F Cereda, Paolo A Canova, Francesco S Soriano
We report the case of a myocardial infarction in the post-partum period due to a spontaneous coronary artery dissection. The role of intracoronary imaging was critical: OCT imaging led us to formulate the right diagnosis.OCT imaging revealed a multiple coronary artery dissection in the left main non-detectable on angiography and in the circumflex, with evidence of coronary hematoma in the circumflex and left anterior descending. Beside dissection, OCT showed evidence of a thrombus near the coronary tear in the left main...
June 2017: Journal of Invasive Cardiology
https://www.readbyqxmd.com/read/28568970/the-changing-trends-and-profile-of-pneumocystosis-mortality-in-the-united-states-1999-2014
#20
Ranjana N Wickramasekaran, Mirna Ponce Jewell, Frank Sorvillo, Tony Kuo
Pneumocystosis (PCP) mortality in the U.S. has received less attention in recent years. This study describes recent trends in mortality and the estimated burden of PCP in the U.S., using the national multiple cause of death data during 1999-2014. PCP mortality rates were calculated for age, sex, race and year. Demographic differences were presented for decedents with and without a human immunodeficiency virus (HIV) co-diagnosis. Matched odds ratios (MOR) were generated to describe associations between non-HIV conditions and PCP mortality...
May 31, 2017: Mycoses
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