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Connective tissue disease

Luciane M Silva, Damon T Jacobs, Bailey A Allard, Timothy A Fields, Madhulika Sharma, Darren P Wallace, Pamela V Tran
Autosomal Dominant Polycystic Kidney Disease (ADPKD) is caused by mutation of PKD1 or PKD2, which encode polycystin 1 and 2, respectively. The polycystins localize to primary cilia and the functional loss of the polycystin complex leads to the formation and progressive growth of fluid-filled cysts in the kidney. The pathogenesis of ADPKD is complex and molecular mechanisms connecting ciliary dysfunction to renal cystogenesis are unclear. Primary cilia mediate Hedgehog signaling, which modulates cell proliferation and differentiation in a tissue-dependent manner...
March 21, 2018: Scientific Reports
Claudia Cava, Gloria Bertoli, Antonio Colaprico, Gianluca Bontempi, Giancarlo Mauri, Isabella Castiglioni
Like other cancer diseases, prostate cancer (PC) is caused by the accumulation of genetic alterations in the cells that drives malignant growth. These alterations are revealed by gene profiling and copy number alteration (CNA) analysis. Moreover, recent evidence suggests that also microRNAs have an important role in PC development. Despite efforts to profile PC, the alterations (gene, CNA, and miRNA) and biological processes that correlate with disease development and progression remain partially elusive. Many gene signatures proposed as diagnostic or prognostic tools in cancer poorly overlap...
March 19, 2018: International Journal of Molecular Sciences
Marzia Dolcino, Andrea Pelosi, Piera Filomena Fiore, Giuseppe Patuzzo, Elisa Tinazzi, Claudio Lunardi, Antonio Puccetti
Systemic sclerosis (SSc) is a rare connective tissue disease characterized by three pathogenetic hallmarks: vasculopathy, dysregulation of the immune system, and fibrosis. A particular feature of SSc is the increased frequency of some types of malignancies, namely breast, lung, and hematological malignancies. Moreover, SSc may also be a paraneoplastic disease, again indicating a strong link between cancer and scleroderma. The reason of this association is still unknown; therefore, we aimed at investigating whether particular genetic or epigenetic factors may play a role in promoting cancer development in patients with SSc and whether some features are shared by the two conditions...
2018: Frontiers in Immunology
Ewa Wielosz, Maria Majdan
Systemic sclerosis (SSc) is a multisystem connective tissue disease characterized by vascular damage with non-specific inflammation and progressive fibrosis. The disease exhibits a large heterogeneity in both clinical and serological features. This diversity refers to the course of the disease, which is difficult to predict in many cases. Although poor prognostic factors are well known, it is not always possible to predict the course of the disease and the prognosis. Furthermore, the activity of disease is difficult to assess since both reversible and irreversible lesions can occur in one patient...
2018: Wiadomości Lekarskie: Organ Polskiego Towarzystwa Lekarskiego
Bożena Targońska-Stępniak
The available data indicate that seropositive rheumatoid arthritis (RA) develops as a result of systemic, autoimmune reaction directed against a range of "self" peptides/proteins that have undergone specific forms of post-translational modification. The development and progress of autoimmunity may be triggered by non-specific, local inflammatory processes outside the joints, for example in the oral or respiratory mucous membrane. The disease occurs in genetically susceptible individuals under the influence of environmental risk factors that promote autoimmunity and consequently the inflammatory process...
2018: Wiadomości Lekarskie: Organ Polskiego Towarzystwa Lekarskiego
Radosław Jeleniewicz, Dorota Suszek, Maria Majdan
OBJECTIVE: Introduction: Musculoskeletal symptoms are not characteristic for granulomatosis with polyangiitis (GPA) patients. However, they could be present in two-thirds of patients at the onset of the disease and may provoke diagnostic difficulties. The aim: To assess retrospectively musculoskeletal manifestations in a group of GPA patients. PATIENTS AND METHODS: Material and methods: The analyzed group consisted of 44 patients with GPA (27M, 17F) aged 46.7 years (16-75) and treated at the Department of Rheumatology and Connective Tissue Diseases in Lublin between 2010-2016...
2018: Wiadomości Lekarskie: Organ Polskiego Towarzystwa Lekarskiego
Izabela Gosk-Bierska, Maria Misterska-Skóra, Marta Wasilewska, Małgorzata Bilińska, Jerzy Gosk, Rajmund Adamiec, Magdalena Koszewicz
BACKGROUND: The pathogenesis of secondary Raynaud's phenomenon (SRP) associated with connective tissue diseases (CTD) is not entirely understood. Nervous system dysfunction and microangiopathy are considered to be causes of this pathology. OBJECTIVES: Peripheral and autonomic nervous system function, the stage of microangiopathy, and the relationships between these in patients with SRP were analyzed. MATERIAL AND METHODS: In the study, 20 patients with CTD-related SRP and 30 healthy controls were subject to capillaroscopy, standard conduction velocity tests and conduction velocity distribution (CVD) tests in ulnar and peroneal nerves, heart rate variability (HRV), and sympathetic skin response (SSR) tests...
March 20, 2018: Advances in Clinical and Experimental Medicine: Official Organ Wroclaw Medical University
Andrzej Miskiewicz, Grzegorz Szparecki, Marek Durlik, Grażyna Rydzewska, Ireneusz Ziobrowski, Renata Górska
BACKGROUND: Periodontitis is a major risk factor of systemic diseases with inflammatory etiology. Numerous studies have established the connection between periodontal condition and diabetes, but there are no reports in the literature on the relationship between periodontitis and other pancreas conditions. The activity of pancreatic enzymes is an important parameter of pancreatic damage, and is also a diagnostic marker of acute and chronic pancreatitis, and the bleeding index determines the periodontitis activity...
March 20, 2018: Advances in Clinical and Experimental Medicine: Official Organ Wroclaw Medical University
Ho-Sheng Chiang, Ren-Yeong Huang, Pei-Wei Weng, Lian-Ping Mau, Chi-Chun Su, Yi-Wen Cathy Tsai, Yu-Chiao Wu, Chi-Hsiang Chung, Yi-Shing Shieh, Wan-Chien Cheng
PURPOSE: To identify 100 top-cited articles published in periodontal journals and analyse the research trends by using citation analysis. MATERIALS AND METHODS: 100 top-cited articles published in periodontal journals were retrieved by searching the database of the ISI Web of Science and Journal Citation reports. For each article, the following principal bibliometric parameters: authorship, geographic and institute origin, manuscript type, study design, scope of study, and citation count of each time period were analysed from 1965 to 2015...
2018: European Journal of Oral Implantology
Johan Spetz, Javid Moslehi, Kristopher Sarosiek
PURPOSE OF REVIEW: Ionizing radiation is a highly effective treatment for a wide range of malignancies, yet the cardiovascular (CV) toxicity that can result from chest radiotherapy impairs the long-term health of cancer survivors and can be a limiting factor for its use. Despite over 100 years of successful clinical use, the mechanisms by which high-energy photons damage critical components within cells of the heart's myocardium, pericardium, vasculature, and valves remain unclear. RECENT FINDINGS: Recent studies exploring the acute and chronic effects of radiation therapy on cardiac and vascular tissue have provided new insights into the development and progression of heart disease, including the identification and understanding of age- and complication-associated risk factors...
March 20, 2018: Current Treatment Options in Cardiovascular Medicine
Yered Pita-Juarez, Gabriel Altschuler, Sokratis Kariotis, Wenbin Wei, Katjusa Koler, Claire Green, Rudolph Tanzi, Winston Hide
A goal of genomics is to understand the relationships between biological processes. Pathways contribute to functional interplay within biological processes through complex but poorly understood interactions. However, limited functional references for global pathway relationships exist. Pathways from databases such as KEGG and Reactome provide discrete annotations of biological processes. Their relationships are currently either inferred from gene set enrichment within specific experiments, or by simple overlap, linking pathway annotations that have genes in common...
March 19, 2018: PLoS Computational Biology
Lívia S F E Ribeiro, Jean N Dos Santos, Clarissa A G Rocha, Patricia R Cury
Mast cells (MCs) can influence the maturation of collagen fibers. This study evaluated the relationship between the distribution and degranulation of MCs and collagen maturation in human gingival tissue in chronic periodontitis. A total of 16 specimens of patients clinically diagnosed as periodontitis and 18 controls clinically diagnosed as healthy or gingivitis were included. Immunohistochemistry and Picrosirius staining were performed to identify MCs and assess collagen fibers, respectively. Chi-square, t test, and Pearson's correlation test ( p<0...
March 1, 2018: Journal of Histochemistry and Cytochemistry: Official Journal of the Histochemistry Society
Dominique Lombardo, Françoise Silvy, Isabelle Crenon, Emmanuelle Martinez, Aurélie Collignon, Evelyne Beraud, Eric Mas
Pancreatic adenocarcinomas and diabetes mellitus are responsible for the deaths of around two million people each year worldwide. Patients with chronic pancreatitis do not die directly of this disease, except where the pathology is hereditary. Much current literature supports the involvement of bile salt-dependent lipase (BSDL), also known as carboxyl ester lipase (CEL), in the pathophysiology of these pancreatic diseases. The purpose of this review is to shed light on connections between chronic pancreatitis, diabetes, and pancreatic adenocarcinomas by gaining an insight into BSDL and its variants...
February 23, 2018: Oncotarget
Salman Siddiqui, Aarti Shikotra, Matthew Richardson, Emma Doran, David Choy, Alex Bell, Cary D Austin, Jeffrey Eastham-Anderson, Beverley Hargadon, Joseph R Arron, Andrew Wardlaw, Christopher E Brightling, Liam G Heaney, Peter Bradding
BACKGROUND: Asthma is a complex chronic disease underpinned by pathological changes within the airway wall. How variations in structural airway pathology and cellular inflammation contribute to the expression and severity of asthma are poorly understood. OBJECTIVES: Therefore we evaluated pathological heterogeneity using topological data analysis (TDA) with the aim of visualizing disease clusters and microclusters. METHODS: A discovery population of 202 adult patients (142 asthmatic patients and 60 healthy subjects) and an external replication population (59 patients with severe asthma) were evaluated...
March 7, 2018: Journal of Allergy and Clinical Immunology
Marta Obremska, Maria Boratyńska, Maciej Szymczak, Dorota Zyśko, Tomasz Płonek, Anna Goździk, Marian Klinger
INTRODUCTION    The dilatation of aortic root (AoR) correlates with cardiac damage and higher cardiovascular risk. The cardiovascular disease is the most common cause of death in patient after kidney transplantation ( KTX). OBJECTIVES    The aim of this study was to assess the prevalence of enlarged AoR diameter in patient after KTX. Patients with  bicuspid aortic valve, significant valvular disease or evidence of connective tissue disorder were excluded. PATIENTS AND METHODS    The all 87 patients after KTX were divided into 2 groups depend on immunosuppressive regimen :mTORi group: 41 patients treated with mammalian target of rapamycin inhibitors  and CNI group: 46 with calcineurin inhibitors...
March 17, 2018: Polish Archives of Internal Medicine
Zezhao Li, Zhen Hong, Zhiqing Peng, Yongcai Zhao, Rusheng Shao
Diabetic nephropathy (DN) is the major cause of end-stage renal disease in diabetic patients. Zicao, a well-known Chinese traditional medicine, has attracted much attention due to its beneficial effects in various medical fields. In this study, we attempted to investigate the effects and mechanisms of action of acetylshikonin, the main ingredient of Zicao, on renal dysfunction in DN. Our results showed that administration with acetylshikonin not only decreased blood urea nitrogen, urine creatinine and the mean kidney-to-body weight ratio in streptozotocin-induced diabetic mice, but also restored the loss of body weight, whereas the blood glucose was not changed...
March 17, 2018: Human Cell
Shahram E Mehr, Adrian Barbul, Cyndya A Shibao
Gastrointestinal symptoms are among the most common complaints in patients with postural tachycardia syndrome (POTS). In some cases, they dominate the clinical presentation and cause substantial disabilities, including significant weight loss and malnutrition, that require the use of invasive treatment to support caloric intake. Multiple cross-sectional studies have reported a high prevalence of gastrointestinal symptoms in POTS patients with connective tissue diseases, such as Ehlers-Danlos, hypermobile type, and in patients with evidence of autonomic neuropathy...
March 16, 2018: Clinical Autonomic Research: Official Journal of the Clinical Autonomic Research Society
Luca Navarini, Domenico Paolo Emanuele Margiotta, Marta Vadacca, Antonella Afeltra
In the last two decades, white adipose tissue (WAT) has been recognized as a key actor of many physiological and pathological conditions. WAT is able to produce mediators, named "adipokines", which may affect systemic homeostasis. In particular, leptin is not only involved in appetite and energy metabolism, but also in immune system. Increasing evidence established that leptin can regulate both innate and adaptive immunity mainly with pro-inflammatory effects but also, to a lesser extent, with anti-inflammatory features...
March 13, 2018: Cancer Letters
Kevin C Lee, Scott M Peters, Yen Chen Kevin Ko, Timothy C Kunkle, Michael A Perrino, Angela J Yoon, Elizabeth M Philipone
Lipoid proteinosis (LP) is a rare autosomal recessive disorder characterized by the deposition of amorphous hyaline material in the dermis and submucosal connective tissue. Here, we present a case of LP with significant oral, dermatologic, and neurologic manifestations occurring in a 10 year-old female of Asian descent. In addition to the more typical oral findings of restricted tongue movement and labial and buccal mucosal involvement, this case highlights an unusual pattern of gingival enlargement infrequently reported in the literature...
February 14, 2018: Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology
Serghei Mangul, Harry Taegyun Yang, Nicolas Strauli, Franziska Gruhl, Hagit T Porath, Kevin Hsieh, Linus Chen, Timothy Daley, Stephanie Christenson, Agata Wesolowska-Andersen, Roberto Spreafico, Cydney Rios, Celeste Eng, Andrew D Smith, Ryan D Hernandez, Roel A Ophoff, Jose Rodriguez Santana, Erez Y Levanon, Prescott G Woodruff, Esteban Burchard, Max A Seibold, Sagiv Shifman, Eleazar Eskin, Noah Zaitlen
High-throughput RNA-sequencing (RNA-seq) technologies provide an unprecedented opportunity to explore the individual transcriptome. Unmapped reads are a large and often overlooked output of standard RNA-seq analyses. Here, we present Read Origin Protocol (ROP), a tool for discovering the source of all reads originating from complex RNA molecules. We apply ROP to samples across 2630 individuals from 54 diverse human tissues. Our approach can account for 99.9% of 1 trillion reads of various read length. Additionally, we use ROP to investigate the functional mechanisms underlying connections between the immune system, microbiome, and disease...
February 15, 2018: Genome Biology
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