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https://www.readbyqxmd.com/read/28211643/postural-analysis-in-a-pediatric-cohort-of-patients-with-ehlers-danlos-syndrome-a-pilot-study
#1
Claudio Lisi, Serena Monteleone, Carmine Tinelli, Berardo Rinaldi, Giuseppe Di Natali, Salvatore Savasta
BACKGROUND: The Ehlers-Danlos Syndrome (EDS) is a rare disorder affecting the connective tissue. EDS patients may suffer of proprioception and balance impairment but all the studies dealing with such symptoms have been addressed to adult subjects. The Study of such impairment in younger patients may lead to a better awareness of own motor abilities and to a focused rehabilitative intervention. Therefore, our work aims to assess the occurrence of these alterations in a pediatric cohort of EDS patients...
February 17, 2017: Minerva Pediatrica
https://www.readbyqxmd.com/read/28210458/osseous-oral-hyaline-ring-granuloma-mimicking-a-mandible-tumor-in-a-child-with-congenital-agenesis-of-the-corpus-callosum
#2
Rodrigo Neves-Silva, Camilla-Borges Ferreira-Gomes, Natalia Palmier, Marcelo Brum-Corrêa, Oslei Paes-Almeida, Marcio Ajudarte-Lopes, Pablo Agustin-Vargas, Alan-Roger Santos-Silva
BACKGROUND: Hyaline ring granuloma (HRG) of the oral cavity is an uncommon disorder considered to be a foreign-body reaction resulting from implantation of food vegetable particles. Microscopically, it is characterized by the presence of structures of hyaline rings in an inflamed fibrous tissue background, which contains multinucleated giant cells. MATERIAL AND METHODS: We present the case of a 4-year-old boy diagnosed with a mandible osseous HRG, which showed clinical and tomographic aspects suggestive of an aggressive bone tumor...
February 2017: Journal of Clinical and Experimental Dentistry
https://www.readbyqxmd.com/read/28209770/are-patients-with-loeys-dietz-syndrome-misdiagnosed-with-beals-syndrome
#3
Rebecca Woolnough, Andrew Dhawan, Kimberly Dow, Jagdeep S Walia
Beals syndrome, also known as congenital contractural arachnodactyly (Online Mendelian Inheritance in Man: 121050), is an autosomal dominant disorder caused by a mutation in FBN2 that is typically characterized by congenital contractures and arachnodactyly. It shares a number of phenotypic features with Loeys-Dietz syndrome (Online Mendelian Inheritance in Man: 609192). Loeys-Dietz syndrome, initially described in 2005, is associated with mutations for the transforming growth factor β receptor and is characterized by findings of cerebral, thoracic, and abdominal arterial aneurysms...
February 16, 2017: Pediatrics
https://www.readbyqxmd.com/read/28202919/ectopic-lymphoid-neogenesis-in-rheumatic-autoimmune-diseases
#4
REVIEW
Michele Bombardieri, Myles Lewis, Costantino Pitzalis
Ectopic lymphoid neogenesis often occurs in the target tissues of patients with chronic rheumatic autoimmune diseases such as rheumatoid arthritis, Sjögren syndrome and other connective tissue disorders, including systemic lupus erythematosus and myositis. However, the mechanisms of ectopic lymphoid-like structure (ELS) formation and function are not entirely understood. For example, it is unclear whether ELSs indicate distinct disease phenotypes or whether they are evolutionary manifestations of chronic inflammation...
February 9, 2017: Nature Reviews. Rheumatology
https://www.readbyqxmd.com/read/28202118/-clinical-and-laboratory-features-of-macrophage-activation-syndrome
#5
Li Guo, Mei-Ping Lu, Gui-Juan Dong, Li-Ping Teng, Yi-Ping Xu, Li-Xia Zou, Qi Zheng
OBJECTIVE: To study the clinical and laboratory features of macrophage activation syndrome (MAS) at the early stage of diagnosis, and to explore a method for early identification of MAS. METHODS: A retrospective analysis was performed for the demographic data, clinical and laboratory features, and treatment outcomes of 21 MAS patients. RESULTS: Of the 21 MAS patients, 14 had systemic juvenile idiopathic arthritis, 5 had Kawasaki disease (KD), and 2 had connective tissue disease (CTD) as primary diseases...
February 2017: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
https://www.readbyqxmd.com/read/28192633/ehlers-danlos-syndrome-classical-type
#6
Jessica M Bowen, Glenda J Sobey, Nigel P Burrows, Marina Colombi, Mark E Lavallee, Fransiska Malfait, Clair A Francomano
Classical EDS is a heritable disorder of connective tissue. Patients are affected with joint hypermobility, skin hyperextensibilty, and skin fragility leading to atrophic scarring and significant bruising. These clinical features suggest consideration of the diagnosis which then needs to be confirmed, preferably by genetic testing. The most recent criteria for the diagnosis of EDS were devised in Villefranche in 1997. [Beighton et al. (1998); Am J Med Genet 77:31-37]. The aims set out in the Villefranche Criteria were: to enable diagnostic uniformity for clinical and research purposes, to understand the natural history of each subtype of EDS, to inform management and genetic counselling, and to identify potential areas of research...
February 13, 2017: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://www.readbyqxmd.com/read/28192626/oral-and-mandibular-manifestations-in-the-ehlers-danlos-syndromes
#7
John Mitakides, Brad T Tinkle
The Ehlers-Danlos syndromes (EDS) are hereditary disorders that affect the connective tissue and collagen structures in the body. Several types of EDS have been identified. Oral and mandibular structures, which include oral soft tissue, dentition, facial and head pain, and the functioning of the temporomandibular joint (TMJ), are variably affected in the various types of EDS. These various manifestations of EDS have been noted for many years, but newer diagnostic techniques and studies are shedding additional light on the challenges faced by EDS patients in the area of oral and mandibular disorders...
February 13, 2017: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://www.readbyqxmd.com/read/28191707/mechanisms-underlying-reflux-symptoms-and-dysphagia-in-patients-with-joint-hypermobility-syndrome-with-and-without-postural-tachycardia-syndrome
#8
A Fikree, Q Aziz, D Sifrim
BACKGROUND: The joint hypermobility syndrome (JHS) is a common non-inflammatory connective tissue disorder which frequently co-exists with postural tachycardia syndrome (PoTS), a form of orthostatic intolerance. Gastrointestinal symptoms and dysmotility have been reported in PoTS. Dysphagia and reflux are common symptoms in JHS, yet no studies have examined the physiological mechanism for these, subdivided by PoTS status. METHODS: Thirty patients (28 female, ages: 18-62) with JHS and symptoms of reflux (n=28) ± dysphagia (n=25), underwent high-resolution manometry and 24 hour pH-impedance monitoring after questionnaire-based symptom assessment...
February 12, 2017: Neurogastroenterology and Motility: the Official Journal of the European Gastrointestinal Motility Society
https://www.readbyqxmd.com/read/28186368/gastrointestinal-involvement-in-the-ehlers-danlos-syndromes
#9
Asma Fikree, Gisela Chelimsky, Heidi Collins, Katcha Kovacic, Qasim Aziz
Current evidence suggests that an association exists between non-inflammatory hereditary disorders of connective tissue such as the Ehlers-Danlos syndromes (EDS) and gastrointestinal (GI) symptoms. Patients with EDS can present with both structural problems such as hiatus hernias, visceroptosis, rectoceles, and rectal prolapse as well as functional problems such as disordered gut motility. It has recently been demonstrated that patients with hypermobile EDS (hEDS) present with GI symptoms related to the fore and hind-gut and these patients frequently meet the criteria for functional gastrointestinal disorders such as functional dyspepsia and irritable bowel syndrome...
February 10, 2017: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://www.readbyqxmd.com/read/28186356/bone-robusticity-in-two-distinct-skeletal-dysplasias-diverges-from-established-patterns
#10
Kate Citron, Cosmo Veneziale, Josephine Marino, Erin M Carter, Karl J Jepsen, Cathleen Raggio
Achondroplasia is a heritable disorder of endochondral bone formation characterized by disproportionate short stature. Osteogenesis imperfecta is a heritable bone and connective tissue disorder characterized by bone fragility. To investigate bone morphology of these groups, we retrospectively reviewed 169 de-identified bone age films from 20 individuals with achondroplasia, 39 individuals with osteogenesis imperfecta and 37 age- and sex-matched controls (matched to historical measurements from the Bolton-Brush Collection)...
February 10, 2017: Journal of Orthopaedic Research: Official Publication of the Orthopaedic Research Society
https://www.readbyqxmd.com/read/28185373/dual-anchor-internal-pulse-generator-technique-may-lower-risk-of-twiddler-s-syndrome-a-case-series-and-literature-review
#11
Michał Roman Sobstyl, Mirosław Ząbek, Grażyna Brzuszkiewicz-Kuźmicka, Tomasz Pasterski
BACKGROUND: Twiddler's syndrome (TS) is described as a spontaneous rotation or intentional external manipulation of implanted internal pulse generator (IPG) for neurological or cardiac disorders. There have been identified some predisposing factors of the development of TS such as: loose subcutaneous tissue, older age of individuals undergoing deep brain stimulation (DBS) procedures, creation of too large pockets for IPG. Apart from these factors, the construction of IPG itself may predispose to the development of TS...
February 9, 2017: Neuromodulation: Journal of the International Neuromodulation Society
https://www.readbyqxmd.com/read/28183733/neuronal-ctgf-ccn2-negatively-regulates-myelination-in-a-mouse-model-of-tuberous-sclerosis-complex
#12
Ebru Ercan, Juliette M Han, Alessia Di Nardo, Kellen Winden, Min-Joon Han, Leonie Hoyo, Afshin Saffari, Andrew Leask, Daniel H Geschwind, Mustafa Sahin
Disruption of myelination during development has been implicated in a range of neurodevelopmental disorders including tuberous sclerosis complex (TSC). TSC patients with autism display impairments in white matter integrity. Similarly, mice lacking neuronal Tsc1 have a hypomyelination phenotype. However, the mechanisms that underlie these phenotypes remain unknown. In this study, we demonstrate that neuronal TSC1/2 orchestrates a program of oligodendrocyte maturation through the regulated secretion of connective tissue growth factor (CTGF)...
February 9, 2017: Journal of Experimental Medicine
https://www.readbyqxmd.com/read/28183226/a-new-col3a1-mutation-in-ehlers-danlos-syndrome-vascular-type-with-different-phenotypes-in-the-same-family
#13
Francesca Cortini, Barbara Marinelli, Silvia Romi, Agostino Seresini, Angela Cecilia Pesatori, Manuela Seia, Nicola Montano, Alessandra Bassotti
Vascular Ehlers-Danlos syndrome (vEDS) is a rare and severe connective tissue disorder caused by mutations in the collagen type III alpha I chain ( COL3A1) gene. We describe a pathogenetic heterozygous COL3A1 mutation c.3140 G>A, p. Gly1047Asp, identified using next-generation sequencing, in a 40-year-old Italian female. The genetic test performed on her relatives, which present different clinical phenotypes, confirmed that they carry the same mutation in heterozygous state. This finding confirms that mutations causing vEDS have an incomplete penetrance...
January 1, 2017: Vascular and Endovascular Surgery
https://www.readbyqxmd.com/read/28179210/an-efficient-synthesis-of-1%C3%AE-25-dihydroxyvitamin-d3-lc-biotin
#14
Lars Kattner, Dan Bernardi
In recent years the apparent impact of vitamin D deficiency on human health has gained increased awareness. Consequently, the development of appropriate assays to measure the status of medicinally most relevant vitamin D metabolites in human blood, serum or relevant tissue is continuously being improved. Particularly, assaying of 1α,25-dihydroxyvitamin D3, in turn considered as the most active metabolite, is mainly indicated in disorders leading to calcaemia or those resulting from an impaired 1α-hydroxylation of 25-hydroxyvitamin D3...
February 5, 2017: Journal of Steroid Biochemistry and Molecular Biology
https://www.readbyqxmd.com/read/28176375/cryptotanshinone-inhibits-stat3-signaling-to-alleviate-cardiac-fibrosis-in-type-1-like-diabetic-rats
#15
Shih-Hsiang Lo, Chao-Tien Hsu, Ho-Shan Niu, Chiang-Shan Niu, Juei-Tang Cheng, Zhih-Cherng Chen
Cryptotanshinone is an active principal ingredient isolated from Salvia miltiorrhiza (Danshen), a medicinal plant used in China to treat cardiac disorders. The objective of this study was to investigate the effect of cryptotanshinone on myocardial fibrosis in diabetic rats. In streptozotocin-induced type 1 diabetic model hyperglycemic rats (STZ-treated rats), fasting blood glucose levels and heart weight/body weight ratio were markedly increased but both were not modified by cryptotanshinone. Additionally, cardiac performance in catheterized STZ-treated rats was improved...
February 8, 2017: Phytotherapy Research: PTR
https://www.readbyqxmd.com/read/28163941/novel-pathogenic-variant-in-tgfbr2-confirmed-by-molecular-modeling-is-a-rare-cause-of-loeys-dietz-syndrome
#16
Michael T Zimmermann, Raul A Urrutia, Patrick R Blackburn, Margot A Cousin, Nicole J Boczek, Eric W Klee, Colleen Macmurdo, Paldeep S Atwal
Loeys-Dietz syndrome (LDS) is a connective tissue disorder characterized by vascular findings of aneurysm and/or dissection of cerebral, thoracic, or abdominal arteries and skeletal findings. We report a case of a novel pathogenic variant in TGFBR2 and phenotype consistent with classic LDS. The proband was a 10-year-old presenting to the genetics clinic with an enlarged aortic root (Z-scores 5-6), pectus excavatum, and congenital contractures of the right 2nd and 3rd digit. Molecular testing of TGFBR2 was sent to a commercial laboratory and demonstrated a novel, likely pathogenic, variant in exon 4, c...
2017: Case Reports in Genetics
https://www.readbyqxmd.com/read/28159859/surgical-indication-for-chronic-aortic-dissection-in-descending-thoracic-and-thoracoabdominal-aorta
#17
Tatsuya Oda, Kenji Minatoya, Hiroaki Sasaki, Hiroshi Tanaka, Yoshimasa Seike, Tatsuya Itonaga, Yosuke Inoue, Masahiro Higashi, Kunihiro Nishimura, Junjiro Kobayashi
BACKGROUND: To address the lack of information about the size of ruptures associated with chronic dissection in the descending and thoracoabdominal aorta, we evaluated the natural history of this pathology. METHODS AND RESULTS: We analyzed data from 571 patients (mean age, 69.4±11.6 years) with unrepaired chronic aortic dissection in the descending or thoracoabdominal aorta with a maximal aortic diameter of ≥3.5 cm from 2007 to 2014. This was a cross-sectional study...
February 2017: Circulation. Cardiovascular Interventions
https://www.readbyqxmd.com/read/28158899/clinical-phenotype-of-musladin-lueke-syndrome-in-2-beagles
#18
R A Packer, M A Logan, L T Guo, S S Apte, H Bader, D P O'Brien, G Johnson, G D Shelton
Musladin-Lueke syndrome (MLS), previously termed Chinese Beagle syndrome, is an autosomal-recessive connective tissue disorder characterized by extensive fibrosis of the skin and joints that was first identified in Beagles in the 1970s. Recent research identified a founder mutation (c.660C>T; p.R221C) in the ADAMTSL2 gene in Beagles with MLS. Here, we report the detailed clinical phenotype and laboratory findings in 2 Beagles affected with MLS. We discuss these findings in relation to the human disorder geleophysic dysplasia (GD), which also arises from recessive ADAMTSL2 mutations, and recent findings in Adamtsl2-deficient mice...
February 3, 2017: Journal of Veterinary Internal Medicine
https://www.readbyqxmd.com/read/28154343/surgical-outcome-of-cerebral-aneurysm-clipping-treated-with-immunosuppressants-report-of-11-cases-and-review-of-the-literature
#19
Masaaki Hokari, Naoki Nakayama, Ken Kazumata, Toshiya Osanai, Hideo Shichinohe, Takeo Abumiya, Kiyohiro Houkin
There are no reports on the outcomes of clippings in patients who receive immunosuppressants, for example, due to connective tissue diseases or following organ transplantation. We thoroughly reviewed these cases focusing on the perioperative management phase. The study included 11 patients with intracranial aneurysms who were taking immunosuppressants; between 2007 and 2014. We performed 12 clipping surgeries. Their clinical records were reviewed for age and gender, aneurysms' location and size, perioperative management of the immunosuppressive drugs, and surgical complications...
January 31, 2017: Neurologia Medico-chirurgica
https://www.readbyqxmd.com/read/28154105/vascular-cognitive-impairment
#20
Martin Dichgans, Didier Leys
Cerebrovascular disease typically manifests with stroke, cognitive impairment, or both. Vascular cognitive impairment refers to all forms of cognitive disorder associated with cerebrovascular disease, regardless of the specific mechanisms involved. It encompasses the full range of cognitive deficits from mild cognitive impairment to dementia. In principle, any of the multiple causes of clinical stroke can cause vascular cognitive impairment. Recent work further highlights a role of microinfarcts, microhemorrhages, strategic white matter tracts, loss of microstructural tissue integrity, and secondary neurodegeneration...
February 3, 2017: Circulation Research
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