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https://www.readbyqxmd.com/read/29150909/genetic-analysis-of-osteogenesis-imperfecta-in-the-palestinian-population-molecular-screening-of-49-affected-families
#1
Osama Essawi, Sofie Symoens, Maha Fannana, Mohammad Darwish, Mohammad Farraj, Andy Willaert, Tamer Essawi, Bert Callewaert, Anne De Paepe, Fransiska Malfait, Paul J Coucke
BACKGROUND: Osteogenesis imperfecta (OI) is a heterogeneous hereditary connective tissue disorder clinically hallmarked by increased susceptibility to bone fractures. METHODS: We analyzed a cohort of 77 diagnosed OI patients from 49 unrelated Palestinian families. Next-generation sequencing technology was used to screen a panel of known OI genes. RESULTS: In 41 probands, we identified 28 different disease-causing variants of 9 different known OI genes...
November 18, 2017: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/29146755/ocular-findings-in-loeys-dietz-syndrome
#2
Catharina Busch, Robert Voitl, Barbara Goergen, Tomasz Zemojtel, Petra Gehle, Daniel J Salchow
BACKGROUND: Loeys-Dietz syndrome (LDS), an autosomal-dominant connective tissue disorder, is characterised by systemic manifestations including arterial aneurysm and craniofacial dysmorphologies. Although ocular involvement in LDS has been reported, detailed information on those manifestations is lacking. METHODS: Retrospective chart review of patients with diagnosed LDS and comparison with age-matched control patients. RESULTS: Mean age was 37...
November 16, 2017: British Journal of Ophthalmology
https://www.readbyqxmd.com/read/29146096/ten-year-review-of-isolated-spontaneous-mesenteric-arterial-dissections
#3
Courtney E Morgan, Neel A Mansukhani, Mark K Eskandari, Heron E Rodriguez
OBJECTIVE: Isolated spontaneous dissection of the superior mesenteric artery (SMA) and celiac artery (CA) remains a rare condition; however, it has been increasingly noted incidentally on diagnostic imaging. The purpose of this study was to examine the natural history and outcomes of patients presenting with isolated spontaneous mesenteric artery dissection (SMAD). We hypothesized that most SMADs can be treated nonoperatively. METHODS: This was a single-center retrospective review of patients presenting with the diagnosis of SMAD between 2006 and 2016...
November 13, 2017: Journal of Vascular Surgery
https://www.readbyqxmd.com/read/29142803/unprovoked-pulmonary-embolism-in-a-young-patient-with-marfan-syndrome
#4
Stella Pak, Andrew Kilgore, Rosanne Thornhill, Kyle Rako, Ali Meier, Gavriella Pora, Jillian M Costello, Christine Dee
Marfan syndrome is a rare connective tissue disorder with a prevalence of approximately 2 to 3 per 10,000 individuals. There have been some reports of young patients with Marfan syndrome developing arteriovenous thromboembolism. These events were unprovoked and recurrent. Owing to its rarity, hypercoagulopathy and other metabolic derangement in patients with Marfan syndrome remains largely unknown. Herein, we report a case of a young man with Marfan syndrome who had myocardial infarction and pulmonary embolism...
September 5, 2017: Curēus
https://www.readbyqxmd.com/read/29142285/blockade-of-cb1-cannabinoid-receptor-alters-gut-microbiota-and-attenuates-inflammation-and-diet-induced-obesity
#5
Pegah Mehrpouya-Bahrami, Kumaraswamy Naidu Chitrala, Mitra S Ganewatta, Chuanbing Tang, E Angela Murphy, Reilly T Enos, Kandy T Velazquez, Jamie McCellan, Mitzi Nagarkatti, Prakash Nagarkatti
Obesity is characterized by chronic low-grade, systemic inflammation, altered gut microbiota, and gut barrier disruption. Additionally, obesity is associated with increased activity of endocannabinoid system (eCB). However, the clear connection between gut microbiota and the eCB system in the regulation of energy homeostasis and adipose tissue inflammation and metabolism, remains to be established. We investigated the effect of treatment of mice with a cannabinoid receptor 1 (CB1) antagonist on Diet-Induced Obesity (DIO), specifically whether such a treatment that blocks endocannabinoid activity can induce changes in gut microbiota and anti-inflammatory state in adipose tissue...
November 15, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29136727/-the-459th-case-arthralgia-fever-rash-and-thrombocytopenia
#6
J Z Shen, Y Wang, M Y Fang
The differential diagnoses of reactive arthritis presenting as arthralgia should be considered as diverse disorders, especially when the symptoms cannot be fully explained by some definite diseases. Do not ignore the indication of bone marrow aspiration. We reported a 50-year-old woman who complained of arthralgia, recurrent fever and rash 9 months ago. Laboratory exams showed mild leukopenia, anemia, thrombocytopenia and increased lymphocyte proportion. She was treated with glucocorticoid after the diagnosis of connective tissue disease was suspected...
November 1, 2017: Zhonghua Nei Ke za Zhi [Chinese Journal of Internal Medicine]
https://www.readbyqxmd.com/read/29134320/artificial-intelligence-in-neurodegenerative-disease-research-use-of-ibm-watson-to-identify-additional-rna-binding-proteins-altered-in-amyotrophic-lateral-sclerosis
#7
Nadine Bakkar, Tina Kovalik, Ileana Lorenzini, Scott Spangler, Alix Lacoste, Kyle Sponaugle, Philip Ferrante, Elenee Argentinis, Rita Sattler, Robert Bowser
Amyotrophic lateral sclerosis (ALS) is a devastating neurodegenerative disease with no effective treatments. Numerous RNA-binding proteins (RBPs) have been shown to be altered in ALS, with mutations in 11 RBPs causing familial forms of the disease, and 6 more RBPs showing abnormal expression/distribution in ALS albeit without any known mutations. RBP dysregulation is widely accepted as a contributing factor in ALS pathobiology. There are at least 1542 RBPs in the human genome; therefore, other unidentified RBPs may also be linked to the pathogenesis of ALS...
November 13, 2017: Acta Neuropathologica
https://www.readbyqxmd.com/read/29126429/rna-sequencing-analysis-of-lung-primary-fibroblast-response-to-eosinophil-degranulation-products-predicts-downstream-effects-on-inflammation-tissue-remodeling-and-lipid-metabolism
#8
Stephane Esnault, Ksenija Bernau, Elizabeth E Torr, Yury A Bochkov, Nizar N Jarjour, Nathan Sandbo
BACKGROUND: The association of eosinophils with inflammation and tissue remodeling is at least partially due to their release of toxic granule proteins and other mediators, including cytokines. Tissue remodeling and consequent functional defects are affected by activity of connective tissue fibroblasts. Exaggerated fibroblast activation, accumulation and change of phenotype may lead to fibrosis and loss of tissue function. So far, little information has been reported on how eosinophils affect inflammation and tissue remodeling via the activation of fibroblasts...
November 10, 2017: Respiratory Research
https://www.readbyqxmd.com/read/29123002/peritoneal-dialysis-catheter-removal-post-transplant-a-rare-case-of-delayed-bowel-perforation
#9
Andrew P Maxted, Brian Davies, Daniel Colliver, Alun Williams, Andrew Lunn
Peritoneal dialysis (PD) is a well-established form of renal replacement therapy and the practice of leaving catheters in situ post-transplantation widely accepted. We present a rare complication: a child presenting with anal protrusion of the PD catheter.The patient is an 11-year-old boy with a background of renal dysplasia and congenital cutis laxa. Twenty-three weeks after dialysis was commenced, the patient underwent a renal transplant. Thirteen weeks post-transplant, the patient felt an unusual sensation after defecation...
November 2017: Peritoneal Dialysis International: Journal of the International Society for Peritoneal Dialysis
https://www.readbyqxmd.com/read/29122609/structural-connections-support-emotional-connections-uncinate-fasciculus-microstructure-is-related-to-the-ability-to-decode-facial-emotion-expressions
#10
Bethany M Coad, Mark Postans, Carl J Hodgetts, Nils Muhlert, Kim S Graham, Andrew D Lawrence
The Uncinate Fasciculus (UF) is an association fibre tract connecting regions in the frontal and anterior temporal lobes. UF disruption is seen in several disorders associated with impaired social behaviour, but its functional role is unclear. Here we set out to test the hypothesis that the UF is important for facial expression processing, an ability fundamental to adaptive social behaviour. In two separate experiments in healthy adults, we used high-angular resolution diffusion-weighted imaging (HARDI) and constrained spherical deconvolution (CSD) tractography to virtually dissect the UF, plus a control tract (the corticospinal tract (CST)), and quantify, via tissue fractional anisotropy (FAT), individual differences in tract microstructure...
November 6, 2017: Neuropsychologia
https://www.readbyqxmd.com/read/29121166/characteristics-diagnosis-and-management-of-ehlers-danlos-syndromes-a-review
#11
Andrew W Joseph, Shannon S Joseph, Clair A Francomano, Theda C Kontis
Importance: Ehlers-Danlos syndromes (EDSs) are a group of heritable connective tissue disorders. Patients with EDSs can develop excessive facial rhytids, nasal deformities, and facial scarring, for which they may seek consultation with a facial plastic surgeon. Ehlers-Danlos syndromes can be associated with serious surgical complications and should be identified preoperatively to facilitate optimal treatment. To our knowledge, no management guidelines for patients with EDSs exist in the facial plastic surgery literature...
November 9, 2017: JAMA Facial Plastic Surgery
https://www.readbyqxmd.com/read/29114066/senescence-and-aging-causes-consequences-and-therapeutic-avenues
#12
REVIEW
Domhnall McHugh, Jesús Gil
Aging is the major risk factor for cancer, cardiovascular disease, diabetes, and neurodegenerative disorders. Although we are far from understanding the biological basis of aging, research suggests that targeting the aging process itself could ameliorate many age-related pathologies. Senescence is a cellular response characterized by a stable growth arrest and other phenotypic alterations that include a proinflammatory secretome. Senescence plays roles in normal development, maintains tissue homeostasis, and limits tumor progression...
November 7, 2017: Journal of Cell Biology
https://www.readbyqxmd.com/read/29113706/calcaneal-avulsion-of-an-ochronotic-achilles-tendon-a-case-report
#13
Oğuzhan Tanoğlu, Gökhun Arıcan, Ahmet Özmeriç, Kadir Bahadır Alemdaroğlu, Muzaffer Çaydere
Alkaptonuria is a hereditary disorder of phenylalanine and tyrosine, with an incidence of approximately 1/200,000 to 1/1,000,000. Ochronosis is the accumulation of homogentisic acid and its metabolites in connective tissues such as the tendons, cartilage, and skin. In the present case study, a 50-year-old male presented with a nontraumatic calcaneal avulsion without a previous diagnosis of ochronosis. To the best of our knowledge, little information has been reported of this pathology in the Achilles tendon and the surgical management...
November 4, 2017: Journal of Foot and Ankle Surgery: Official Publication of the American College of Foot and Ankle Surgeons
https://www.readbyqxmd.com/read/29110304/beta-blockers-for-preventing-aortic-dissection-in-marfan-syndrome
#14
REVIEW
Hyun-Kyoung Koo, Kendra Ak Lawrence, Vijaya M Musini
BACKGROUND: Marfan syndrome is a hereditary disorder affecting the connective tissue and is caused by a mutation of the fibrillin-1 (FBN1) gene. It affects multiple systems of the body, most notably the cardiovascular, ocular, skeletal, dural and pulmonary systems. Aortic root dilatation is the most frequent cardiovascular manifestation and its complications, including aortic regurgitation, dissection and rupture are the main cause of morbidity and mortality. OBJECTIVES: To assess the long-term efficacy and safety of beta-blocker therapy as compared to placebo, no treatment or surveillance only in people with Marfan syndrome...
November 7, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/29107872/inflammation-and-gut-brain-axis-link-obesity-to-cognitive-dysfunction-plausible-pharmacological-interventions
#15
REVIEW
Maite Solas, Fermin I Milagro, María J Ramírez, J Alfredo Martínez
Obesity prevalence is increasing steadily throughout the world's population in most countries and in parallel the prevalence of metabolic disorders including cardiovascular diseases and type 2 diabetes is also rising, but less is reported about excessive adiposity relationship with poorer cognitive performance, cognitive decline and dementia. Some human clinical studies have evidenced that obesity is related to the risk of the development of mild cognitive impairment, in the form of short-term memory and executive function deficits, as well as dementia and Alzheimer's disease...
November 3, 2017: Current Opinion in Pharmacology
https://www.readbyqxmd.com/read/29104809/mycobacterium-intracellulare-infection-mimicking-progression-of-scleroderma
#16
Simon Krabbe, Merete Engelhart, Sören Thybo, Søren Jacobsen
This case report describes a patient with scleroderma who developed Mycobacterium intracellulare infection, which for more than a year mimicked worsening of her connective tissue disorder. The patient was diagnosed with scleroderma based on puffy fingers that developed into sclerodactyly, abnormal nail fold capillaries, interstitial lung disease, Raynaud's phenomenon, esophageal dysmotility, and positivity for rheumatoid factor and anti-SSA antibodies. She developed massive inflammatory changes of the cutis, the subcutis, and the muscle fasciae of the right leg, that after several failed attempts of immunosuppressive treatments were found to be caused by Mycobacterium intracellulare...
2017: Case Reports in Rheumatology
https://www.readbyqxmd.com/read/29101475/insight-into-the-pathology-of-a-col1a1-signal-peptide-heterozygous-mutation-leading-to-severe-osteogenesis-imperfecta
#17
U Lindert, M Gnoli, M Maioli, M F Bedeschi, L Sangiorgi, M Rohrbach, C Giunta
Osteogenesis imperfecta or "brittle bone disease" is a congenital disorder of connective tissue causing the bone to break easily. Around 85-90% of cases are due to autosomal dominant mutations in the genes encoding type I collagen, the major organic component of bone. Genotype-phenotype correlations have shown that quantitative defects of collagen type I lead to mild OI, whereas structural defects show a wide clinical range from mild to perinatal lethal. This may partially be explained by the type of amino acid substitution and the relative location in the domain structure...
November 3, 2017: Calcified Tissue International
https://www.readbyqxmd.com/read/29091995/safety-and-efficacy-of-alternating-treatment-with-ep2006-a-filgrastim-biosimilar-and-reference-filgrastim-a-phase-3-randomised-double-blind-clinical-study-in-the-prevention-of-severe-neutropenia-in-patients-with-breast-cancer-receiving-myelosuppressive-chemotherapy
#18
K Blackwell, P Gascon, A Krendyukov, S Gattu, Y Li, N Harbeck
Background: In 2015, the biosimilar filgrastim EP2006 became the first biosimilar approved by the US Food and Drug Administration (FDA) for commercial use in the United States, marketed as Zarxio®. This phase 3 randomised, double-blind registration study in patients with breast cancer receiving (neo)adjuvant myelosuppressive chemotherapy (TAC; docetaxel+doxorubicin+cyclophosphamide) compares reference filgrastim, Neupogen®, with two groups receiving alternating treatment with reference and biosimilar every other cycle...
October 28, 2017: Annals of Oncology: Official Journal of the European Society for Medical Oncology
https://www.readbyqxmd.com/read/29089684/prenatal-diagnosis-of-nail-patella-syndrome-a-case-report
#19
L D Padmanabhan, D Yesodharan, S Nampoothiri
The Nail Patella Syndrome (NPS) is an autosomal dominant connective tissue disorder affecting the nails, skeletal system, kidneys and eyes. Here, we report a case of NPS detected at 19 weeks of gestation. The movements of the elbow and knee joints were restricted and there was rotational deformity of the knee joints. To our knowledge, this is the first report of in-utero restriction of limb movements in a fetus with NPS.
July 2017: Indian Journal of Radiology & Imaging
https://www.readbyqxmd.com/read/29068554/internal-anal-sphincter-nerves-a-macroanatomical-and-microscopic-description-of-the-extrinsic-autonomic-nerve-supply-of-the-internal-anal-sphincter
#20
S Stelzner, M Böttner, J Kupsch, W Kneist, P Quirke, N P West, H Witzigmann, T Wedel
BACKGROUND: The internal anal sphincter (IAS) contributes substantially to anorectal functions. While its autonomic nerve supply has been studied at the microscopic level, little information is available concerning the macroscopic topography of extrinsic nerve fibres. This study was designed to identify neural connections between the pelvic plexus and the IAS, provide a detailed topographical description, and give histological proof of autonomic nerve tissue. METHODS: Macroscopic dissection of pelvic autonomic nerves was performed under magnification in seven (5 males, 2 females) hemipelvises obtained from body donors (67-92 years)...
October 25, 2017: Colorectal Disease: the Official Journal of the Association of Coloproctology of Great Britain and Ireland
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