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Connective tissue disorders

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https://www.readbyqxmd.com/read/28649221/notch-1-mutation-in-a-patient-with-spontaneous-and-recurrent-dissections-of-extracranial-arteries
#1
Carlos Guevara, Gonzalo Farias, Kateryna Bulatova, Pablo Alarcón, Wendy Soruco, Carlos Robles, Marcelo Morales
Dissections of extracranial arteries are estimated to account for only 2% of all ischemic strokes but for approximately 20% of strokes in patients younger than 45 years old. Most dissections of extracranial arteries involve some trauma stretch, mechanical stress, or connective tissue abnormalities. In the absence of these disorders, determining the etiology of recurrent extracranial dissections is quite challenging because the underlying nature of these cases is poorly understood. We report the case of a 44-year-old female with recurrent dissections of the vertebral and carotid arteries associated with a heterozygous mutation p...
2017: Frontiers in Neurology
https://www.readbyqxmd.com/read/28648480/a-10-year-institutional-experience-with-open-branched-graft-reconstruction-of-aortic-aneurysms-in-connective-tissue-disorders-versus-degenerative-disease
#2
Caitlin W Hicks, Jennifer Lue, Natalia O Glebova, Bryan A Ehlert, James H Black
OBJECTIVE: Aortic reconstruction for complex thoracoabdominal aortic aneurysms (TAAAs) can be challenging, especially in patients with connective tissue disorders (CTDs) in whom tissue fragility is a major concern. Branched graft reconstruction is a more complex operation compared with inclusion patch repair of the aorta but is frequently necessary in patients with CTDs or other pathologies because of anatomic reasons. We describe our institutional experience with open branched graft reconstruction of aortic aneurysms and compare outcomes for patients with CTDs vs degenerative pathologies...
June 22, 2017: Journal of Vascular Surgery
https://www.readbyqxmd.com/read/28644392/development-of-bone-targeting-drugs
#3
REVIEW
Molly Stapleton, Kazuki Sawamoto, Carlos J Alméciga-Díaz, William G Mackenzie, Robert W Mason, Tadao Orii, Shunji Tomatsu
The skeletal system, comprising bones, ligaments, cartilage and their connective tissues, is critical for the structure and support of the body. Diseases that affect the skeletal system can be difficult to treat, mainly because of the avascular cartilage region. Targeting drugs to the site of action can not only increase efficacy but also reduce toxicity. Bone-targeting drugs are designed with either of two general targeting moieties, aimed at the entire skeletal system or a specific cell type. Most bone-targeting drugs utilize an affinity to hydroxyapatite, a major component of the bone matrix that includes a high concentration of positively-charged Ca(2+)...
June 23, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28642694/ehlers-danlos-syndrome-hypermobility-type-impact-of-somatosensory-orthoses-on-postural-control-a-pilot-study
#4
Emma G Dupuy, Pascale Leconte, Elodie Vlamynck, Audrey Sultan, Christophe Chesneau, Pierre Denise, Stéphane Besnard, Boris Bienvenu, Leslie M Decker
Elhers-Danlos syndrome (EDS) is the clinical manifestation of connective tissue disorders, and comprises several clinical forms with no specific symptoms and selective medical examinations which result in a delay in diagnosis of about 10 years. The EDS hypermobility type (hEDS) is characterized by generalized joint hypermobility, variable skin hyperextensibility and impaired proprioception. Since somatosensory processing and multisensory integration are crucial for both perception and action, we put forth the hypothesis that somatosensory deficits in hEDS patients may lead, among other clinical symptoms, to misperception of verticality and postural instability...
2017: Frontiers in Human Neuroscience
https://www.readbyqxmd.com/read/28639748/expansion-of-the-phenotype-of-kosaki-overgrowth-syndrome
#5
Mari Minatogawa, Toshiki Takenouchi, Yu Tsuyusaki, Fuminori Iwasaki, Tomoko Uenara, Kenji Kurosawa, Kenjiro Kosaki, Cynthia J Curry
Skeletal overgrowth is a characteristic of several genetic disorders that are linked to specific molecular signaling cascades. Recently, we established a novel overgrowth syndrome (Kosaki overgrowth syndrome, OMIM #616592) arising from a de novo mutation in PDGFRB, that is, c.1751C>G p.(Pro584Arg). Subsequently, other investigators provided in vitro molecular evidence that this specific mutation in the juxtamembrane domain of PDGFRB causes an overgrowth phenotype and is the first gain-of-function point mutation of PDGFRB to be reported in humans...
June 22, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28633258/stepwise-total-aortic-repairs-with-fenestrated-endografts-in-a-patient-with-loeys-dietz-syndrome
#6
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
#7
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
#8
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
#9
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
#10
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
#11
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
#12
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
#13
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
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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
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