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https://www.readbyqxmd.com/read/28742084/systematic-tissue-specific-functional-annotation-of-the-human-genome-highlights-immune-related-dna-elements-for-late-onset-alzheimer-s-disease
#1
Qiongshi Lu, Ryan L Powles, Sarah Abdallah, Derek Ou, Qian Wang, Yiming Hu, Yisi Lu, Wei Liu, Boyang Li, Shubhabrata Mukherjee, Paul K Crane, Hongyu Zhao
Continuing efforts from large international consortia have made genome-wide epigenomic and transcriptomic annotation data publicly available for a variety of cell and tissue types. However, synthesis of these datasets into effective summary metrics to characterize the functional non-coding genome remains a challenge. Here, we present GenoSkyline-Plus, an extension of our previous work through integration of an expanded set of epigenomic and transcriptomic annotations to produce high-resolution, single tissue annotations...
July 24, 2017: PLoS Genetics
https://www.readbyqxmd.com/read/28741088/the-autoimmune-inflammatory-syndrome-induced-by-adjuvants-asia-shoenfeld-s-syndrome-descriptive-analysis-of-300-patients-from-the-international-asia-syndrome-registry
#2
Abdulla Watad, Mariana Quaresma, Nicola Luigi Bragazzi, Ricard Cervera, Jan Willem Cohen Tervaert, Howard Amital, Yehuda Shoenfeld
The autoimmune/inflammatory syndrome induced by adjuvants (ASIA) is a recently identified condition in which the exposure to an adjuvant leads to an aberrant autoimmune response. We aimed to summarize the results obtained from the ASIA syndrome registry up to December 2016, in a descriptive analysis of 300 cases of ASIA syndrome, with a focus on the adjuvants, the clinical manifestations, and the relationship with other autoimmune diseases. A Web-based registry, based on a multicenter international study, collected clinical and laboratory data in a form of a questionnaire applied to patients with ASIA syndrome...
July 25, 2017: Clinical Rheumatology
https://www.readbyqxmd.com/read/28740835/severe-pulmonary-hypertension-due-to-combined-pulmonary-fibrosis-and-emphysema-another-cause-of-death-among-smokers
#3
REVIEW
André Carramenha de Góes Hirano, Eduardo Pelegrineti Targueta, Fernando Peixoto Ferraz de Campos, João Augusto Dos Santos Martines, Dafne Andrade, Silvana Maria Lovisolo, Aloisio Felipe-Silva
In 2005, the combined pulmonary fibrosis and emphysema (CPFE) was first defined as a distinct entity, which comprised centrilobular or paraseptal emphysema in the upper pulmonary lobes, and fibrosis in the lower lobes accompanied by reduced diffused capacity of the lungs for carbon monoxide (DLCO). Recently, the fibrosis associated with the connective tissue disease was also included in the diagnosis of CPFE, although the exposure to tobacco, coal, welding, agrochemical compounds, and tire manufacturing are the most frequent causative agents...
April 2017: Autopsy & case reports
https://www.readbyqxmd.com/read/28739610/silicone-implant-incompatibility-syndrome-siis-in-a-57-year-old-woman-with-unilateral-silicone-breast-implant
#4
Juliane Schierbeck, Jesper Rømhild Davidsen, Sanne Grindsted Nielsen, Camilla Bille
Since the 1960s, silicone implants have been used for breast augmentations, both cosmetically and in reconstructive surgery. Tissue exposed to silicone can react with multiple adverse advents. Autoimmune/inflammatory syndrome induced by adjuvants due to silicone exposure from ruptured silicone implants can lead to different interstitial lung manifestations predominantly with granuloma evolvement, leading to the so-called silicone implant incompatibility syndrome (SIIS). This case describes a 57-year-old woman with multiple lung infiltrations and a left-sided breast implant...
July 24, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28737134/nephrotic-syndrome-in-primary-myelofibrosis-with-renal-extramedullary-hematopoiesis-and-glomerulopathy-in-the-jak-inhibitor-era
#5
Rachele Del Sordo, Rachele Brugnano, Carla Covarelli, Gioia Fiorucci, Franca Falzetti, Giorgio Barbatelli, Emidio Nunzi, Angelo Sidoni
Primary myelofibrosis (PMF) is an uncommon form of myeloproliferative neoplasm (MPN) characterized by a proliferation of predominantly megakaryocytes and granulocytes in the bone marrow that, in fully-developed disease, is associated with reactive deposition of fibrous connective tissue, extramedullary hematopoiesis (EMH), and splenomegaly. Kidney involvement is rare and clinically presents with proteinuria, nephrotic syndrome, and renal insufficiency. Renal damage can be due to EMH and glomerulopathy. Renal EMH presents three patterns: infiltration of the interstitium with possible renal failure caused by functional damage of parenchyma and vessels, infiltration of capsule and pericapsular adipose tissue, and sclerosing mass-like lesions that can cause hydronephrosis and hydroureter with obstructive uropathy and renal failure...
July 24, 2017: Clinical Nephrology
https://www.readbyqxmd.com/read/28736081/frizzled-7-mediates-tgf-%C3%AE-induced-pulmonary-fibrosis-by-transmitting-non-canonical-wnt-signaling
#6
Shuhong Guan, Jun Zhou
Pulmonary fibrosis is a progressive and often fatal lung disease characterized by fibroblast proliferation and excessive deposition of extracellular matrix. Both TGF-β and Wnt signaling have been implicated in the regulation of organ fibrosis. However little is known about whether TGF-β-induced gene expression changes in Wnt signaling pathway could predict disease progression. In the study, we investigated the interaction between TGF-β and Wnt signaling in mediating pulmonary fibrosis by big data analysis, in vitro and in vivo experimental studies and clinical data analysis...
July 20, 2017: Experimental Cell Research
https://www.readbyqxmd.com/read/28735110/blinded-sample-size-recalculation-in-clinical-trials-incorporating-historical-data
#7
Katharina Hees, Meinhard Kieser
Recruiting sufficient patients within an acceptable time horizon is an issue for most clinical trials and is especially challenging in the field of rare diseases. It is therefore an attractive option to include historical data from previous (pilot) trials in the current study thus reducing the recruitment burden. In clinical trials with binary endpoint, the required sample size does not only depend on the type I error rate, the power, and the treatment group difference but additionally on the overall event rate...
July 19, 2017: Contemporary Clinical Trials
https://www.readbyqxmd.com/read/28734566/long-term-outcome-of-eosinophilic-fasciitis-a-cross-sectional-evaluation-of-35-patients
#8
Jorre S Mertens, Rogier M Thurlings, Wietske Kievit, Marieke M B Seyger, Timothy R D Radstake, Elke M G J de Jong
BACKGROUND: Eosinophilic fasciitis (EF) is a connective tissue disease with an unknown long-term course. OBJECTIVE: To evaluate presence and determinants of residual disease damage in patients with EF after long-term follow-up. METHODS: Patients with biopsy-proven EF were included for this cross-sectional study. Outcome measures included the Physician's Global Assessment of Disease Activity, Physician's Global Assessment of Damage (PhysGA-D), skin pliability scores, passive range of motion, and health-related quality of Life (HRQoL) questionnaires...
July 19, 2017: Journal of the American Academy of Dermatology
https://www.readbyqxmd.com/read/28734086/the-role-of-serum-hyaluronic-acid-determination-in-the-diagnosis-of-liver-fibrosis
#9
Monika Gudowska, Bogdan Cylwik, Lech Chrostek
The common pathway leading to liver fibrosis and cirrhosis is growing deposition of extracellular matrix (ECM). It results from molecular and histological rearrangement of collagens, glycoproteins and hyaluronans. Hyaluronic acid is a chief component of the extracellular matrix of connective tissues and plays the main structural role in the formation of ECM. The most important organ involved in the synthesis of hyaluronic acid is the liver. In this paper the meaning of hyaluronic acid in the diagnostics of liver diseases is discussed...
July 19, 2017: Acta Biochimica Polonica
https://www.readbyqxmd.com/read/28733103/broadband-diffuse-optical-characterization-of-elastin-for-biomedical-applications
#10
Sanathana Konugolu Venkata Sekar, Joo Sin Beh, Andrea Farina, Alberto Dalla Mora, Antonio Pifferi, Paola Taroni
Elastin is a key structural protein of dynamic connective tissues widely found in the extracellular matrix of skin, arteries, lungs and ligaments. It is responsible for a range of diseases related to aging of biological tissues. The optical characterization of elastin can open new opportunities for its investigation in biomedical studies. In this work, we present the absorption spectra of elastin using a broadband (550-1350nm) diffuse optical spectrometer. Distortions caused by fluorescence and finite bandwidth of the laser source on estimated absorption were effectively accounted for in measurements and data analysis and compensated...
July 14, 2017: Biophysical Chemistry
https://www.readbyqxmd.com/read/28731277/tnf-%C3%AE-induced-nf-%C3%AE%C2%BAb-activation-promotes-myofibroblast-differentiation-of-lr-mscs-and-exacerbates-bleomycin-induced-pulmonary-fibrosis
#11
Jiwei Hou, Tan Ma, Honghui Cao, Yabing Chen, Cong Wang, Xiang Chen, Zou Xiang, Xiaodong Han
Idiopathic pulmonary fibrosis (IPF) is a chronic, progressive, and irreversible lung disease of unknown cause. It has been reported that both lung resident mesenchymal stem cells (LR-MSCs) and tumor necrosis factor-α (TNF-α) play important roles in the development of pulmonary fibrosis. However, the underlying connections between LR-MSCs and TNF-α in the pathogenesis of pulmonary fibrosis are still elusive. In this study, we found that the pro-inflammatory cytokine TNF-α and the transcription factor nuclear factor kappa B (NF-κB) p65 subunit were both upregulated in bleomycin-induced fibrotic lung tissue...
July 21, 2017: Journal of Cellular Physiology
https://www.readbyqxmd.com/read/28729155/incidence-mortality-and-causes-of-death-in-physician-diagnosed-primary-sj%C3%A3-gren-s-syndrome-in-korea-a-nationwide-population-based-study
#12
Hyun Jung Kim, Kyoung Hoon Kim, Hoo Jae Hann, Seungjin Han, Yuri Kim, Sang Hyuk Lee, Dong Sook Kim, Hyeong Sik Ahn
OBJECTIVES: The objective of this study was to investigate the epidemiological features of primary Sjögren's syndrome (pSS) in Korea at a national level, including the incidence, mortality, and causes of death. METHODS: We used a national, population-based registry database called the Rare Intractable Disease Registration Program from the Health Insurance Review and Assessment Service to obtain pSS patient data for the period between 2010 and 2014. pSS was diagnosed by a physician based on uniform criteria...
March 8, 2017: Seminars in Arthritis and Rheumatism
https://www.readbyqxmd.com/read/28728415/-177-lu-labelled-cyclic-minigastrin-analogues-with-therapeutic-activity-in-cck2r-expressing-tumours-preclinical-evaluation-of-a-kit-formulation
#13
Christine Rangger, Maximilian Klingler, Lajos Balogh, Zita Pöstényi, Andras Polyak, Dariusz Pawlak, Renata Mikołajczak, Elisabeth von Guggenberg
Minigastrin (MG) analogues specifically target cholecystokinin-2 receptors (CCK2R) expressed in different tumours and enable targeted radiotherapy of advanced and disseminated disease when radiolabelled with a beta emitter such as (177)Lu. Especially truncated MG analogues missing the penta-Glu sequence are associated with low kidney retention and seem therefore most promising for therapeutic use. Based on [D-Glu1,desGlu2-6]MG (MG11) we have designed the two cyclic MG analogues cyclo1,9[γ-D-Glu1,desGlu2-6,D-Lys9]MG (cyclo-MG1) and cyclo1,9[γ-D-Glu1,desGlu2-6,D-Lys9,Nle11]MG (cyclo-MG2)...
July 20, 2017: Molecular Pharmaceutics
https://www.readbyqxmd.com/read/28727149/aortic-microcalcification-associates-with-elastin-fragmentation-in-marfan-syndrome
#14
Shaynah A Wanga, Stijntje Hibender, Yanto Ridwan, Cindy van Roomen, Mariska Vos, Ingeborg van der Made, Nicole van Vliet, Romy Franken, Luigi Amjg van Riel, Maarten Groenink, Aeilko H Zwinderman, Barbara Jm Mulder, Carlie Jm de Vries, Jeroen Essers, Vivian de Waard
Marfan syndrome (MFS) is a connective tissue disorder, in which aortic rupture is the major cause of death. MFS patients with an aortic diameter below the advised limit for prophylactic surgery (<5cm) may unexpectedly experience an aortic dissection or rupture, despite yearly monitoring. Hence, there is a clear need for improved prognostic markers to predict such aortic events. We hypothesize that elastin fragments play a causal role in aortic calcification in MFS and that microcalcification serves as a marker for aortic disease severity...
July 20, 2017: Journal of Pathology
https://www.readbyqxmd.com/read/28725426/colony-stimulating-factor-1-receptor-csf1r-inhibitors-in-cancer-therapy
#15
REVIEW
Michael A Cannarile, Martin Weisser, Wolfgang Jacob, Anna-Maria Jegg, Carola H Ries, Dominik Rüttinger
The tumor-permissive and immunosuppressive characteristics of tumor-associated macrophages (TAM) have fueled interest in therapeutically targeting these cells. In this context, the colony-stimulating factor 1 (CSF1)/colony-stimulating factor 1 receptor (CSF1R) axis has gained the most attention, and various approaches targeting either the ligands or the receptor are currently in clinical development. Emerging data on the tolerability of CSF1/CSF1R-targeting agents suggest a favorable safety profile, making them attractive combination partners for both standard treatment modalities and immunotherapeutic agents...
2017: Journal for Immunotherapy of Cancer
https://www.readbyqxmd.com/read/28721885/nrg-oncology-radiation-therapy-oncology-group-study-1014-1-year-toxicity-report-from-a-phase-2-study-of-repeat-breast-preserving-surgery-and-3-dimensional-conformal-partial-breast-reirradiation-for-in-breast-recurrence
#16
Douglas W Arthur, Kathryn A Winter, Henry M Kuerer, Bruce G Haffty, Laurie W Cuttino, Dorin A Todor, Nicole L Simone, Shelly B Hayes, Wendy A Woodward, Beryl McCormick, Randi J Cohen, Walter M Sahijdak, Daniel J Canaday, Doris R Brown, Adam D Currey, Christine M Fisher, Reshma Jagsi, Julia White
PURPOSE: To determine the associated toxicity, tolerance, and safety of partial-breast reirradiation. METHODS AND MATERIALS: Eligibility criteria included in-breast recurrence occurring >1 year after whole-breast irradiation, <3 cm, unifocal, and resected with negative margins. Partial-breast reirradiation was targeted to the surgical cavity plus 1.5 cm; a prescription dose of 45 Gy in 1.5 Gy twice daily for 30 treatments was used. The primary objective was to evaluate the rate of grade ≥3 treatment-related skin, fibrosis, and/or breast pain adverse events (AEs), occurring ≤1 year from re-treatment completion...
August 1, 2017: International Journal of Radiation Oncology, Biology, Physics
https://www.readbyqxmd.com/read/28721575/gastroparesis-medical-and-therapeutic-advances
#17
REVIEW
Christopher M Navas, Nihal K Patel, Brian E Lacy
Gastroparesis is a chronic, bothersome, and often disabling neuromuscular disorder of the upper gastrointestinal tract. The most frequently reported symptoms of gastroparesis include nausea, vomiting, epigastric pain, early satiety, and unintentional weight loss. Etiologies of gastroparesis include diabetes, connective tissue disorders, prior infection, mesenteric ischemia, and post-surgical complications. The largest category of gastroparesis patients is comprised of those in whom no definitive cause can be identified (idiopathic gastroparesis)...
July 18, 2017: Digestive Diseases and Sciences
https://www.readbyqxmd.com/read/28720136/bilateral-multiple-pulmonary-artery-aneurysms-associated-with-cavitary-pulmonary-tuberculosis-a-case-report
#18
Pedro Pallangyo, Frederick Lyimo, Smita Bhalia, Hilda Makungu, Bashir Nyangasa, Flora Lwakatare, Pal Suranyi, Mohamed Janabi
BACKGROUND: Pulmonary artery aneurysms constitute <1% of aneurysms occurring in the thoracic cavity. Congenital cardiac defects are responsible for the majority (>50%) of cases, however, pulmonary artery aneurysm is a rare sequelae of pulmonary tuberculosis reported in about 5% of patients with chronic cavitary tuberculosis on autopsy. The natural history of this potentially fatal condition remains poorly understood and guidelines for optimal management are controversial. CASE PRESENTATION: A 24-year-old man, a nursing student of African descent, was referred to us from an up-country regional hospital with a 4-week history of recurrent episodes of breathlessness, awareness of heartbeats and coughing blood 3 weeks after completing a 6-month course of anti-tuberculosis drugs...
July 19, 2017: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/28720119/calcified-amorphous-tumor-of-the-heart-with-mitral-annular-calcification-a-case-report
#19
Ryo Nakamaru, Hiroki Oe, Katsuomi Iwakura, Takafumi Masai, Kenshi Fujii
BACKGROUND: Calcified amorphous tumor of the heart is a rare, non-neoplastic cardiac mass characterized by nodular calcium in the background of amorphous degenerating fibrinous material. Clinical diagnosis of calcified amorphous tumor can be difficult, and current single imaging techniques do not specifically differentiate calcified amorphous tumor from other cardiac tumors such as calcified atrial myxoma, calcified thrombi, or vegetation. Complete surgical resection is the treatment of choice for both symptom improvement and prevention of embolization, as well as for pathological diagnosis...
July 18, 2017: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/28719438/comparative-analysis-of-chilblain-lupus-erythematosus-and-idiopathic-perniosis-histopathologic-features-and-immunohistochemistry-for-cd123-and-cd30
#20
Michael L Wang, May P Chan
Distinction of chilblain lupus erythematosus (CLE) from idiopathic perniosis (IP) could predict an underlying connective tissue disease; however, histopathologic discrimination of the two is difficult. Increased CD123 plasmacytoid dendritic cells and CD30 lymphocytes have been demonstrated in various forms of cutaneous lupus erythematosus and IP, respectively. To our knowledge, CD123 and CD30 have not been examined in CLE. Our objective was to identify helpful histopathologic and immunohistochemical features in distinguishing CLE and IP...
July 14, 2017: American Journal of Dermatopathology
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