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Connective tissue diseases

Salma Ayoub, Giovanni Ferrari, Robert C Gorman, Joseph H Gorman, Frederick J Schoen, Michael S Sacks
Heart valves control unidirectional blood flow within the heart during the cardiac cycle. They have a remarkable ability to withstand the demanding mechanical environment of the heart, achieving lifetime durability by processes involving the ongoing remodeling of the extracellular matrix. The focus of this review is on heart valve functional physiology, with insights into the link between disease-induced alterations in valve geometry, tissue stress, and the subsequent cell mechanobiological responses and tissue remodeling...
September 15, 2016: Comprehensive Physiology
Raya Al Maskari, Yasmin, S Cleary, Nikki Figg, Sarju Mehta, Doris Rassl, Ian Wilkinson, Kevin M O'Shaughnessy
Loeys-Dietz syndrome (LDS) is an autosomal dominant connective tissue disorder with a range of cardiovascular, skeletal, craniofacial and cutaneous manifestations. LDS type 4 is caused by mutations in TGFβ ligand 2 (TGFB2) and based on the family pedigrees described to date, appears to have a milder clinical phenotype, often presenting with isolated aortic disease. We sought to investigate its molecular basis in a new pedigree. We identified a missense variant p.(Arg320Cys) (NM_003238.3) in a highly evolutionary conserved region of TGFB2 in a new LDS type 4 pedigree with multiple cases of aortic aneurysms and dissections...
October 26, 2016: European Journal of Human Genetics: EJHG
Rintaro Saito, Anaïs Rocanin-Arjo, Young-Hyun You, Manjula Darshi, Benjamin Van Espen, Satoshi Miyamoto, Jessica Pham, Minya Pu, Simone Romoli, Loki Natarajan, Wenjun Ju, Matthias Kretzler, Robert Nelson, Keiichiro Ono, Dana Thomasova, Shrikant R Mulay, Trey Ideker, Vivette D'Agati, Ergin Beyret, Juan Carlos Izpisua Belmonte, Hans Joachim Anders, Kumar Sharma
To derive new insights in diabetic complications, we integrated publicly available human protein-protein interaction (PPI) networks with global metabolic networks using metabolomic data from patients with diabetic nephropathy. We focused on the participating proteins in the network that were computationally predicted to connect the urine metabolites. MDM2 had the highest significant number of PPI connections. As validation, significant downregulation of MDM2 gene expression was found in both glomerular and tubulointerstitial compartments of kidney biopsy tissue from 2 independent cohorts of patients with diabetic nephropathy...
October 20, 2016: JCI Insight
Betül Ersoy, Kiremitçi Yılmaz Seniha, Deniz Kızılay, Münevver Yılmaz, Şenol Coşkun
Complex clinical presentation with diverse timing of particular symptoms may cause diagnostic difficulties, especially in children and adolescents. This paper presents diagnostic difficulties and pitfalls in 3 children with acquired primary hypothyroidism due to Hashimoto's thyroiditis (HT) presenting with unusual manifestations. We described 3 children with acquired primary hypothyroidism due to HT. One of our patients had musculoskeletal pain and was diagnosed and treated as having connective tissue disease...
September 2016: Annals of Pediatric Endocrinology & Metabolism
Catherine I Carty, Alison M Lee, Nathan A E Wienandt, Edward L Stevens, Derron A Alves, John A Browne, Jill Bryan, Eoin G Ryan, Joseph P Cassidy
BACKGROUND: An unusual presentation of skin disease was identified in two related neonatal Pedigree Limousin calves presented to University Veterinary Hospital, University College Dublin, following detailed post mortem examination a diagnosis of dermatosparaxis was made. Dermatosparaxis in animals or Ehlers Danlos Syndrome, which is the analogous condition seen in humans, is a connective tissue disorder characterised by extreme skin fragility. To the authors' knowledge this is the first report of such a diagnosis in the Limousin breed and the features of this lethal phenotype were severe in comparison to previous reports of the condition...
2016: Irish Veterinary Journal
Changjun Yin, Sarajo Kumar Mohanta, Prasad Srikakulapu, Christian Weber, Andreas J R Habenicht
Artery tertiary lymphoid organs (ATLOs) are atherosclerosis-associated lymphoid aggregates with varying degrees of complexity ranging from small T/B-cell clusters to well-structured lymph node-like though unencapsulated lymphoid tissues. ATLOs arise in the connective tissue that surrounds diseased arteries, i.e., the adventitia. ATLOs have been identified in aged atherosclerosis-prone hyperlipidemic apolipoprotein E-deficient (ApoE(-/-)) mice: they are organized into distinct immune cell compartments, including separate T-cell areas, activated B-cell follicles, and plasma cell niches...
2016: Frontiers in Immunology
Shantanu Dixit, Chaithra Kalkur, Atul P Sattur, Michael M Bornstein, Fred Melton
BACKGROUND: Scleroderma is a chronic connective tissue disorder with unknown etiology. It is characterized by excessive deposition of extracellular matrix in the connective tissues causing vascular disturbances which can result in tissue hypoxia. These changes are manifested as atrophy of the skin and/or mucosa, subcutaneous tissue, muscles, and internal organs. Such changes can be classified into two types, namely, morphea (localized) and diffuse (systemic). Morphea can manifest itself as hemifacial atrophy (Parry-Romberg syndrome) although this remains debatable...
October 24, 2016: Journal of Medical Case Reports
Jason Gandhi, Gautam Dagur, Kelly Warren, Noel Smith, Sardar Ali Khan
BACKGROUND: Diabetes mellitus is a vastly prevalent metabolic disorder with escalating global health concerns. Particularly when mismanaged, chronic micro- and macrovascular complications may highly impair physiological systems while immunodeficiency disposes us to infection. OBJECTIVE: We investigate infections, localized complications, and neoplasms of the genitourinary system secondary to the chronic complications of diabetes mellitus in males and females. METHOD: A comprehensive MEDLINE® search was guided using key words relevant to diabetes mellitus and the genitourinary system...
October 19, 2016: Current Diabetes Reviews
G Fenna van Breda, Lennart G Bongartz, Wenqing Zhuang, Rachel P L van Swelm, Jeanne Pertijs, Branko Braam, Maarten-Jan Cramer, Dorine W Swinkels, Pieter A Doevendans, Marianne C Verhaar, Roos Masereeuw, Jaap A Joles, Carlo A J M Gaillard
BACKGROUND: Hepcidin regulates systemic iron homeostasis by downregulating the iron exporter ferroportin. Circulating hepcidin is mainly derived from the liver but hepcidin is also produced in the heart. We studied the differential and local regulation of hepcidin gene expression in response to myocardial infarction (MI) and/or chronic kidney disease (CKD). We hypothesized that cardiac hepcidin gene expression is induced by and regulated to severity of cardiac injury, either through direct (MI) or remote (CKD) stimuli, as well as through increased local iron content...
October 22, 2016: American Journal of Nephrology
James Esposito, Zoe Brown, Wendy Stevens, Joanne Sahhar, Candice Rabusa, Jane Zochling, Janet Roddy, Jennifer Walker, Susanna M Proudman, Mandana Nikpour
BACKGROUND: In some rheumatic diseases such as systemic lupus erythematosus (SLE), low serum complement ('hypocomplementaemia') is a feature of active disease. However, the role of hypocomplementaemia in systemic sclerosis (SSc) is unknown. We sought to determine the frequency, clinical associations and relationship to disease activity of hypocomplementaemia in SSc. METHODS: The study included 1140 patients fulfilling the 2013 American College of Rheumatology criteria for SSc...
October 22, 2016: Arthritis Research & Therapy
Shigeto Sato, Masato Koike, Manabu Funayama, Junji Ezaki, Takahiro Fukuda, Takashi Ueno, Yasuo Uchiyama, Nobutaka Hattori
Kufor-Rakeb syndrome (KRS) is an autosomal recessive form of early-onset parkinsonism linked to the PARK9 locus. The causative gene for KRS is Atp13a2, which encodes a lysosomal type 5 P-type ATPase. We recently showed that KRS/PARK9-linked mutations lead to several lysosomal alterations, including reduced proteolytic processing of cathepsin D in vitro. However, it remains unknown how deficiency of Atp13a2 is connected to lysosomal impairments. To address this issue, we analyzed brain tissues of Atp13a2 conditional-knockout mice, which exhibited characteristic features of neuronal ceroid lipofuscinosis, including accumulation of lipofuscin positive for subunit c of mitochondrial ATP synthase, suggesting that a common pathogenic mechanism underlies both neuronal ceroid lipofuscinosis and Parkinson disease...
October 19, 2016: American Journal of Pathology
Roshini Fernando, Ekaterina Placzek, Edmund A Reese, Andrew T Placzek, Samantha Schwartz, Aaron Trierweiler, Leslie M Niziol, Stephen Atkins, Thomas S Scanlan, Terry J Smith
CONTEXT: The sources and biological impact of 3,3',5,5' tetraiodothyroacetic acid (TA4) are uncertain. CD34(+) fibrocytes express several proteins involved in the production of thyroid hormones. They infiltrate the orbit in Graves' disease (GD), an autoimmune process known as thyroid-associated ophthalmopathy. It appears that the thyrotropin receptor (TSHR) plays an important role in the pathogenesis of TAO. OBJECTIVE: To quantify levels of TA4 in healthy subjects and those with Graves' disease...
October 21, 2016: Journal of Clinical Endocrinology and Metabolism
Igor S Sidorov, Roman V Romashko, Vasily T Koval, Rashid Giniatullin, Alexei A Kamshilin
We recently pointed out the important role of dermis deformation by pulsating arterial pressure in the formation of a photoplethysmographic signal at green light. The aim of this study was to explore the role of this novel finding in near-infrared (NIR) light. A light-emitting diode (LED)-based imaging photoplethysmography (IPPG) system was used to detect spatial distribution of blood pulsations under frame-to-frame switching green and NIR illumination in the palms of 34 healthy individuals. We observed a significant increase of light-intensity modulation at the heartbeat frequency for both illuminating wavelengths after a palm was contacted with a glass plate...
2016: PloS One
Neige M Journy, Kieran McHugh, Richard W Harbron, Mark S Pearce, Amy Berrington de Gonzalez
OBJECTIVE: To describe medical conditions associated with the use of CT in children or young adults with no previous cancer diagnosis. METHODS: Radiologists' reports for scans performed in 1995-2008 in patients <22 years of age were collected from the Radiology Information System in 44 hospitals of Great Britain. By semantic search, an automated procedure identified 192 medical conditions within the radiologists' reports. Manual validation of a subsample by a paediatric radiologist showed a satisfactory performance of the automatic coding procedure...
October 21, 2016: British Journal of Radiology
Ya-Qin Tan, Jing Zhang, Gang Zhou
Macroautophagy/autophagy is a conserved lysosomal degradation process essential for cell physiology and human health. By regulating apoptosis, inflammation, pathogen clearance, immune response and other cellular processes, autophagy acts as a modulator of pathogenesis and is a potential therapeutic target in diverse diseases. With regard to oral disease, autophagy can be problematic either when it is activated or impaired, because this process is involved in diverse functions, depending on the specific disease and its level of progression...
October 20, 2016: Autophagy
Jiunn-Wei Wang, Chien-Ning Hsu, Wei-Chen Tai, Ming-Kun Ku, Tsung-Hsing Hung, Kuo-Lun Tseng, Lan-Ting Yuan, Seng-Howe Nguang, Chih-Ming Liang, Shih-Cheng Yang, Cheng-Kun Wu, Pin-I Hsu, Deng-Chyang Wu, Seng-Kee Chuah
The association of Helicobacter pylori eradication with the occurrence of renal dysfunction in patients with peptic ulcer diseases is still unclear. This study aimed to clarify the relevance of H. pylori eradication to the occurrence of chronic kidney diseases in patients with peptic ulcer diseases. Data that were available from 2000-2011 were extracted from the National Health Insurance Research Database in Taiwan, and all patients with peptic ulcer diseases (n = 208 196) were screened for eligibility. We divided randomly selected patients into an H...
2016: PloS One
Sylwia Szotek, Joanna Dawidowicz, Brian Eyden, Natalia Matysiak, Aleksander Czogalla, Grzegorz Dudzik, Anna Leśniewicz, Krzysztof Maksymowicz
Fascia lata is an important element of the fascial system, which forms the continuum of connective tissue throughout the body. This deep fascia envelops the entire thigh and hip area and its main function is to transmit mechanical forces generated by the musculoskeletal system of the lower extremities. Fascia lata is also known as a useful and easily harvested graft material. Despite its crucial role in lower extremity biomechanics and wide-ranging applications in plastic and reconstructive surgery, both the structure of fascia lata and particularly the cells populating this tissue are relatively unexplored and therefore poorly understood...
October 20, 2016: Ultrastructural Pathology
Avadhesh Kumar, Shalini Kaushal, Neelu Verma, Deepti Chandra
The treatment of gingival recession defects is indicated for esthetic and functional reasons to reduce root sensitivity, to remove muscle pull, to create or augment keratinized tissue, and to prevent disease progression. The presence of sufficient amount of periosteum adjacent to gingival recession defects makes it a suitable graft. The adult human periosteum is a highly vascular connective tissue with immense regenerative potential. It contains fibroblasts, osteogenic progenitor cells, and stem cells as a result of which it has the ability to differentiate into fibroblast, osteoblast, chondrocytes, adipocytes, and skeletal myocytes...
September 2016: Journal of Oral Biology and Craniofacial Research
Tao He, Didier Surdez, Juha K Rantala, Saija Haapa-Paananen, Jozef Ban, Maximilian Kauer, Eleni Tomazou, Vidal Fey, Javier Alonso, Heinrich Kovar, Olivier Delattre, Kristiina Iljin
A translocation leading to the formation of an oncogenic EWS-ETS fusion protein defines Ewing sarcoma. The most frequent gene fusion, present in 85 percent of Ewing sarcomas, is EWS-FLI1. Here, a high-throughput RNA interference screen was performed to identify genes whose function is critical for EWS-FLI1 driven cell viability. In total, 6781 genes were targeted by siRNA molecules and the screen was performed both in presence and absence of doxycycline-inducible expression of the EWS-FLI1 shRNA in A673/TR/shEF Ewing sarcoma cells...
October 16, 2016: Gene
Arsenio Spinillo, Fausta Beneventi, Elena Locatelli, Vèronique Ramoni, Roberto Caporali, Claudia Alpini, Giulia Albonico, Chiara Cavagnoli, Carlomaurizio Montecucco
BACKGROUND: The burden of pregnancy complications associated with well defined, already established systemic rheumatic diseases preexisting pregnancy such as rheumatoid arthritis, systemic lupus erythematosus or scleroderma is well known. Systemic rheumatic diseases are characterized by a long natural history with few symptoms, an undifferentiated picture or a remitting course making difficult a timely diagnosis. It has been suggested that screening measures for these diseases could be useful but the impact of unrecognized systemic rheumatic disorders on pregnancy outcome is unknown...
October 18, 2016: BMC Pregnancy and Childbirth
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