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Connective tissue diseases

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https://www.readbyqxmd.com/read/29457266/polyvalvular-heart-disease-syndrome
#1
Edmund Kenneth Kerut, Robert Ascuitto, Nancy Ross-Ascuitto, James J McKinnie
An adult case of polyvalvular heart disease syndrome diagnosed in an adult is presented. The characteristic facies and echocardiographic features of this rare autosomal dominant connective tissue disorder are presented.
February 19, 2018: Echocardiography
https://www.readbyqxmd.com/read/29452267/git2-a-keystone-in-ageing-and-age-related-disease
#2
REVIEW
Jaana van Gastel, Jan Boddaert, Areta Jushaj, Richard T Premont, Louis M Luttrell, Jonathan Janssens, Bronwen Martin, Stuart Maudsley
Since its discovery, G protein-coupled receptor kinase-interacting protein 2, GIT2, and its family member, GIT1, have received considerable interest concerning their potential key roles in regulating multiple inter-connected physiological and pathophysiological processes. GIT2 was first identified as a multifunctional protein that is recruited to G protein-coupled receptors (GPCRs) during the process of receptor internalization. Recent findings have demonstrated that perhaps one of the most important effects of GIT2 in physiology concerns its role in controlling multiple aspects of the complex ageing process...
February 13, 2018: Ageing Research Reviews
https://www.readbyqxmd.com/read/29448998/cardiac-amyloidosis-from-clinical-suspicion-to-morphological-diagnosis
#3
REVIEW
Pavla Flodrova, Patrik Flodr, Tomas Pika, Jiri Vymetal, Dusan Holub, Petr Dzubak, Marian Hajduch, Vlastimil Scudla
Amyloidosis is a heterogeneous group of diseases characterised by extracellular accumulation of amyloid in various tissues and organs of the body, leading to alteration and destruction of tissues. Heart involvement is the most important prognostic factor in patients with systemic amyloidosis and the diagnosis and typing of amyloid must be made properly. The clinical picture shows congestive heart failure with predominant right-sided heart failure symptoms in fully developed disease, various types of arrhythmias and characteristic electrocardiography and echocardiography findings...
February 12, 2018: Pathology
https://www.readbyqxmd.com/read/29447658/primary-anetoderma-with-undifferentiated-connective-tissue-disease
#4
Lana X Tong, Jenna Beasley, Shane Meehan, Evan Rieder, Miriam Pomeranz, Kristen Lo Sicco, Alisa Femia, Randie Kim, Andrew G Franks
Anetoderma is a rare benign elastolytic disorder that is characterized by focal loss of elastin fibers on histopathology and is often recalcitrant to treatment. We present a case of a patient with a 20-year history of pruritic and painful hyperpigmented atrophic papules clustered on the neck, axillae, inframammary folds, and right medial thigh. Although the histopathologyof her axillary lesions was consistent with anetoderma, her clinical presentation is unusual given the extent of involvement, reported pain and pruritus, and sharp demarcation of the distribution...
December 15, 2017: Dermatology Online Journal
https://www.readbyqxmd.com/read/29445936/pulmonary-arterial-hemodynamic-assessment-by-a-novel-index-in-systemic-sclerosis-patients-pulmonary-pulse-transit-time
#5
Mehmet Dogan, Tolga Han Efe, Tolga Cimen, Cem Ozisler, Mehmet Ali Felekoglu, Ahmet Goktug Ertem, Mehmet Erat, Omer Yiginer, Murat Tulmac
OBJECTIVES: Systemic sclerosis (SSc) is a chronic, inflammatory, and autoimmune connective tissue disease that is associated with vascular lesions, and fibrosis of the skin and visceral organs. Cardiac complications may occur as a secondary effect of SSc as a result of pulmonary arterial hypertension and interstitial lung disease. The objective of this study was to assess whether the pulmonary pulse transit time (pPTT) could serve as a diagnostic marker for pulmonary arterial alterations in patients with SSc, prior to development of pulmonary hypertension...
February 14, 2018: Lung
https://www.readbyqxmd.com/read/29444731/isolated-aortic-dilation-without-osteoarthritis-a-case-of-smad3-mutation
#6
Jose Arroyave, Juan Manuel Carretero, Domenico Gruosso
Aneurysm-osteoarthritis syndrome is a recently discovered inherited autosomal dominant connective tissue disease caused by SMAD3 mutations. Aneurysm-osteoarthritis syndrome is responsible for 2% of familial thoracic aortic aneurysms and dissections and is characterised by aneurysms, dissections, and tortuosity throughout the arterial tree in combination with osteoarthritis. Early-onset osteoarthritis is present in almost all patients. We present the case of a non-syndromic young boy with SMAD3 mutation isolated from the dilated aortic root and ascending aorta without osteoarthritis...
February 15, 2018: Cardiology in the Young
https://www.readbyqxmd.com/read/29442539/platelets-in-wound-healing-and-regenerative-medicine
#7
Julia Etulain
Although platelets are widely recognized as having a critical role in primary hemostasis and thrombosis, increasing experimental and clinical evidence identifies these enucleated cells as relevant modulators of other physiopathological processes including inflammation and tissue regeneration. These phenomena are mediated through the release of growth factors, cytokines, and extracellular matrix modulators that sequentially promote (i) revascularization of damaged tissue through the induction of migration, proliferation, differentiation, and stabilization of endothelial cells in new blood vessels; (ii) restoration of damaged connective tissue through migration, proliferation, and activation of fibroblasts; and (iii) proliferation and differentiation of mesenchymal stem cells into tissue-specific cell types...
February 14, 2018: Platelets
https://www.readbyqxmd.com/read/29441738/the-first-reported-case-of-fibrous-hamartoma-of-infancy-with-hyperhidrosis-and-hypertrichosis-in-korea
#8
Moon Hyung You, Dong Hoon Shin, Jong Soo Choi, Byeong Su Kim, Yeonwoong Kim, JoonGoon Kim
Fibrous hamartoma of infancy (FHI) is a rare entity with a benign nature. The typical clinical features are a single, slowly growing, painless mass on the trunk that appears within the first 2 years of life. We report a 13-month-old boy who presented with a plaque on the lower back since 4 months of age. The plaque had gradually become larger and firm, and hyperhidrosis and hypertrichosis were noticed. No visible connection between the spinal cord and the lesion was found in radiologic studies, indicating a disease other than spinal dysraphism...
February 26, 2018: Journal of Korean Medical Science
https://www.readbyqxmd.com/read/29441713/human-expression-patterns-qualitative-and-quantitative-analysis-of-thrombospondin-1-under-physiological-and-pathological-conditions
#9
REVIEW
Chen Zhao, Jeffrey S Isenberg, Aleksander S Popel
Thrombospondin-1 (TSP-1), a matricellular protein and one of the first endogenous anti-angiogenic molecules identified, has long been considered a potent modulator of human diseases. While the therapeutic effect of TSP-1 to suppress cancer was investigated in both research and clinical settings, the mechanisms of how TSP-1 is regulated in cancer remain elusive, and the scientific answers to the question of whether TSP-1 expressions can be utilized as diagnostic or prognostic marker for patients with cancer are largely inconsistent...
February 14, 2018: Journal of Cellular and Molecular Medicine
https://www.readbyqxmd.com/read/29441298/acquired-cutis-laxa-associated-with-light-and-heavy-chain-deposition-disease
#10
Reena A Majithia, Leni George, Meera Thomas, N A Fouzia
Acquired cutis laxa (ACL) is a rare connective tissue disorder characterized by pendulous and coarsely wrinkled skin. There have been few cases of its association to monoclonal immunoglobulin deposition disease (MIDD), which constitutes the light chain (LCDD), heavy chain (HCDD), and light and heavy chain (LHCDD) deposition disease. MIDD predominantly involves the kidney. Skin is the next common organ to be affected by HCDD, which presents as ACL. We report the case of a 40-year-old male who presented with ACL associated with LHCDD...
January 2018: Indian Dermatology Online Journal
https://www.readbyqxmd.com/read/29441167/is-this-a-worrisome-red-eye-episcleritis-in-the-primary-care-setting
#11
Amr Salama, Arwa Elsheikh, Richard Alweis
Episcleritis is the inflammation of the thin, loose, highly vascular connective tissue layer that lies between the conjunctiva and sclera. Incidence is less than 1/1000. It is more common in women and those between 40 and 50 years of age. Most cases are idiopathic. It is classified into simple and nodular. Most attacks resolve within 1-3 months. The nodular type tends to be more recurrent and painful. It presents with acute onset of redness, lacrimation, and photophobia. The diagnosis of is essentially clinical, and eye pain or tenderness should raise the concern for scleritis...
2018: Journal of Community Hospital Internal Medicine Perspectives
https://www.readbyqxmd.com/read/29439934/suppressed-networks-of-inflammatory-mediators-characterize-chronic-venous-insufficiency
#12
Ulka Sachdev, Lena Vodovotz, Julie Bitner, Derek Barclay, Ruben Zamora, Jinling Yin, Richard L Simmons, Yoram Vodovotz
OBJECTIVE: Chronic venous insufficiency (CVI) affects 25 million adults in the United States. Little emphasis has been placed on inflammatory changes associated with CVI. We hypothesize that in patients with early to mid-stage benign varicose vein disease, differences in circulating inflammatory mediators will be manifested in blood draining the involved area vs circulating blood in control subjects. METHODS: Patients undergoing either endovenous ablation or sclerotherapy for Clinical, Etiology, Anatomy, and Pathophysiology clinical class 3 to 5 disease underwent phlebotomy from regional veins at the time of the procedure...
February 10, 2018: Journal of Vascular Surgery. Venous and Lymphatic Disorders
https://www.readbyqxmd.com/read/29439082/association-of-common-comorbidities-with-osteonecrosis-a-nationwide-population-based-case-control-study-in-denmark
#13
Alina Dima, Alma Becic Pedersen, Lars Pedersen, Cristian Baicus, Reimar Wernich Thomsen
OBJECTIVE: To examine recent time trends in the incidence of osteonecrosis (ON) in Denmark and to investigate different common comorbidities association with ON in a population-based setting. METHODS: Using Danish medical databases, we included all patients with a first-time hospital diagnosis of ON during 1995-2012. Each ON case was matched with 10 randomly selected population control subjects from general population. For all participants, we obtained a complete hospital history of comorbidities included in the CharlsonComorbidity Index 5 years preceding the inclusion date...
February 8, 2018: BMJ Open
https://www.readbyqxmd.com/read/29438677/autophagy-inducers-in-cancer
#14
Maria Russo, Gian Luigi Russo
Autophagy is a complex, physiological process devoted to degrade and recycle cellular components. Proteins and organelles are first phagocytized by autophagosomes, then digested in lysosomes, and finally recycled to be utilized again during cellular metabolism. Moreover, autophagy holds an important role in the physiopathology of several diseases. In cancer, excellent works demonstrated the dual functions of autophagy in tumor biology: autophagy activation can promote cancer cells survival (protective autophagy), or contribute to cancer cell death (cytotoxic/nonprotective autophagy)...
February 10, 2018: Biochemical Pharmacology
https://www.readbyqxmd.com/read/29434785/nephroprotective-effects-of-diacylglycerol-on-diabetic-nephropathy-in-type-2-diabetic-rats
#15
Jianpeng Li, Yongheng Yan, Duo Li, Xia Li, Xinying Lin, Zhenhua Liu, Tongcheng Xu, Fangling Du
Diacylglycerol (DAG) has been reported to reduce the serum lipid and glucose levels more effectively compared with triacylglycerol (TAG). The present study examined the long-term effects of dietary DAG on rats with type 2 diabetic nephropathy (DN). The type 2 DN model was established by administering a high-fat and high-calorie diet along with an intraperitoneal injection of 35 mg/kg body weight streptozocin, and the disease developed over the following 8 weeks. Sprague-Dawley rats were then randomly divided into the control, TAG, low-dose DAG (Low-DAG) and high-dose DAG (High-DAG) groups...
February 2018: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/29433038/deep-transfer-learning-for-characterizing-chondrocyte-patterns-in-phase-contrast-x-ray-computed-tomography-images-of-the-human-patellar-cartilage
#16
Anas Z Abidin, Botao Deng, Adora M DSouza, Mahesh B Nagarajan, Paola Coan, Axel Wismüller
Phase contrast X-ray computed tomography (PCI-CT) has been demonstrated to be effective for visualization of the human cartilage matrix at micrometer resolution, thereby capturing osteoarthritis induced changes to chondrocyte organization. This study aims to systematically assess the efficacy of deep transfer learning methods for classifying between healthy and diseased tissue patterns. We extracted features from two different convolutional neural network architectures, CaffeNet and Inception-v3 for characterizing such patterns...
February 9, 2018: Computers in Biology and Medicine
https://www.readbyqxmd.com/read/29432654/eccrine-sweat-glands-associate-with-the-human-hair-follicle-within-a-defined-compartment-of-dermal-white-adipose-tissue
#17
E Poblet, F Jimenez-Acosta, E Escario-Travesedo, J A Hardman, I Hernández-Hernández, J L Agudo-Mena, J J Cabrera-Galvan, C Nicu, R Paus
BACKGROUND: Eccrine sweat glands (ESGs) are critical for thermoregulation and involved in wound healing. ESGs have traditionally been considered as separate skin appendages without connection to the pilosebaceous unit (PSU). However, recent preliminary evidence has encouraged the hypothesis that PSU and ESG are more interconnected than previously thought. OBJECTIVE: To reevaluate the morphology of human skin adnexa with an integrated 3D perspective in order to explore the possible interconnections that the PSU and the ESG may form...
February 12, 2018: British Journal of Dermatology
https://www.readbyqxmd.com/read/29432524/reimplantation-versus-remodelling-with-ring-annuloplasty-comparison-of-mid-term-outcomes-after-valve-sparing-aortic-root-replacement
#18
Marien Lenoir, Bart Maesen, Louis-Mathieu Stevens, Raymond Cartier, Philippe Demers, Nancy Poirier, Michaël Tousch, Ismail El-Hamamsy
OBJECTIVES: Remodelling with extra-aortic ring annuloplasty has emerged as an alternative approach to root reimplantation. However, no studies have yet compared outcomes between procedures. The aim of this study was to compare mid-term outcomes in patients undergoing reimplantation versus remodelling with extra-aortic annuloplasty. METHODS: From 2001 to 2017, 142 patients underwent root remodelling with extra-aortic annuloplasty (n = 83, 48 ± 13 years) or a reimplantation technique (n = 59, 48 ± 12 years) at the Montreal Heart Institute...
February 8, 2018: European Journal of Cardio-thoracic Surgery
https://www.readbyqxmd.com/read/29431645/subretinal-human-umbilical-tissue-derived-cell-transplantation-preserves-retinal-synaptic-connectivity-and-attenuates-m%C3%A3-ller-glial-reactivity
#19
Sehwon Koh, William J Chen, Nadine S Dejneka, Ian R Harris, Bin Lu, Sergey Girman, Joshua Saylor, Shaomei Wang, Cagla Eroglu
Human umbilical tissue-derived cells (hUTC or palucorcel) are currently under clinical investigation for the treatment of geographic atrophy, a late stage of macular degeneration, but how hUTC transplantation mediates vision recovery is not fully elucidated. Subretinal administration of hUTC preserves visual function in the Royal College of Surgeons (RCS) rat, a genetic model of retinal degeneration caused by Mertk loss-of-function. hUTC secrete synaptogenic and neurotrophic factors that improve the health and connectivity of the neural retina...
February 5, 2018: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/29431262/the-japanese-society-of-pathology-guidelines-on-the-handling-of-pathological-tissue-samples-for-genomic-research-standard-operating-procedures-based-on-empirical-analyses
#20
Yae Kanai, Hiroshi Nishihara, Yohei Miyagi, Tatsuhiro Tsuruyama, Kenichi Taguchi, Hiroto Katoh, Tomoyo Takeuchi, Masahiro Gotoh, Junko Kuramoto, Eri Arai, Hidenori Ojima, Ayako Shibuya, Teruhiko Yoshida, Toshiaki Akahane, Rika Kasajima, Kei-Ichi Morita, Johji Inazawa, Takeshi Sasaki, Masashi Fukayama, Yoshinao Oda
Genome research using appropriately collected pathological tissue samples is expected to yield breakthroughs in the development of biomarkers and identification of therapeutic targets for diseases such as cancers. In this connection, the Japanese Society of Pathology (JSP) has developed "The JSP Guidelines on the Handling of Pathological Tissue Samples for Genomic Research" based on an abundance of data from empirical analyses of tissue samples collected and stored under various conditions. Tissue samples should be collected from appropriate sites within surgically resected specimens, without disturbing the features on which pathological diagnosis is based, while avoiding bleeding or necrotic foci...
February 2018: Pathology International
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