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Guozheng Cao, Yang Shi, Jian Zhang, Hongru Ma, Shouqing Hou, Haiyang Dong, Weiling Hong, Shuo Chen, Hao Li, Yandan Wu, Pengjuan Guo, Xu Shao, Bingbing Xu, Feng Shi, Yijun Meng, Yongfeng Jin
BACKGROUND: The immunoglobulin (Ig) superfamily receptor Down syndrome cell adhesion molecule (Dscam) gene can generate tens of thousands of isoforms via alternative splicing, which is essential for both nervous and immune systems in insects. However, further information is required to develop a comprehensive view of Dscam diversification across the broad spectrum of Chelicerata clades, a basal branch of arthropods and the second largest group of terrestrial animals. RESULTS: In this study, a genome-wide comprehensive analysis of Dscam genes across Chelicerata species revealed a burst of nonclassical Dscams, categorised into four types-mDscam, sDscamα, sDscamβ, and sDscamγ-based on their size and structure...
January 19, 2018: BMC Genomics
#2
Ashish B Shah, Breann K Tisano, Osama Elattar, Jackson Rucker Staggers, Sameer Naranje
Introduction: Hajdu-Cheney syndrome (HCS) is a rare autosomal dominant disease characterized by acroosteolysis, wormian skull bones with persistent skull sutures, premature loss of teeth, micrognathia, short stature, hypermobility of the joints, neurologic manifestations such as basilar invagination with subsequent paresthesia, hearing loss, and speech alterations, and osteoporosis with tendency to pathologic fractures of long bones and vertebrae as well as painful hands and feet. Very few cases have been earlier reported in the literature...
September 2017: Journal of Orthopaedic Case Reports
#3
Veda N Giri, Karen E Knudsen, William K Kelly, Wassim Abida, Gerald L Andriole, Chris H Bangma, Justin E Bekelman, Mitchell C Benson, Amie Blanco, Arthur Burnett, William J Catalona, Kathleen A Cooney, Matthew Cooperberg, David E Crawford, Robert B Den, Adam P Dicker, Scott Eggener, Neil Fleshner, Matthew L Freedman, Freddie C Hamdy, Jean Hoffman-Censits, Mark D Hurwitz, Colette Hyatt, William B Isaacs, Christopher J Kane, Philip Kantoff, R Jeffrey Karnes, Lawrence I Karsh, Eric A Klein, Daniel W Lin, Kevin R Loughlin, Grace Lu-Yao, S Bruce Malkowicz, Mark J Mann, James R Mark, Peter A McCue, Martin M Miner, Todd Morgan, Judd W Moul, Ronald E Myers, Sarah M Nielsen, Elias Obeid, Christian P Pavlovich, Stephen C Peiper, David F Penson, Daniel Petrylak, Curtis A Pettaway, Robert Pilarski, Peter A Pinto, Wendy Poage, Ganesh V Raj, Timothy R Rebbeck, Mark E Robson, Matt T Rosenberg, Howard Sandler, Oliver Sartor, Edward Schaeffer, Gordon F Schwartz, Mark S Shahin, Neal D Shore, Brian Shuch, Howard R Soule, Scott A Tomlins, Edouard J Trabulsi, Robert Uzzo, Donald J Vander Griend, Patrick C Walsh, Carol J Weil, Richard Wender, Leonard G Gomella
Purpose Guidelines are limited for genetic testing for prostate cancer (PCA). The goal of this conference was to develop an expert consensus-driven working framework for comprehensive genetic evaluation of inherited PCA in the multigene testing era addressing genetic counseling, testing, and genetically informed management. Methods An expert consensus conference was convened including key stakeholders to address genetic counseling and testing, PCA screening, and management informed by evidence review. Results Consensus was strong that patients should engage in shared decision making for genetic testing...
December 13, 2017: Journal of Clinical Oncology: Official Journal of the American Society of Clinical Oncology
#4
REVIEW
Juan Ignacio Silesky Jiménez, Jorge Luis Hidalgo Marroquin, Guy A Richards, Pravin Amin
Leptospirosis is a zoonosis caused by a gram negative aerobic spirochete of the genus Leptospira. It is acquired by contact with urine or reproductive fluids from infected animals, or by inoculation from contaminated water or soil. The disease has a global distribution, mainly in tropical and subtropical regions that have a humid, rainy climate and is also common in travelers returning from these regions. Clinical suspicion is critical for the diagnosis and it should be included in the differential diagnosis of any patient with a febrile hepatorenal syndrome in, or returning from endemic regions...
February 2018: Journal of Critical Care
#5
J C Hernández-Martínez, J Vázquez-Escamilla, M Coronado-Puente
INTRODUCTION: Metatarsalgia is the most common reason for consultation in orthopedic pathology of the foot. The key to its treatment lies in the correct determination of the symptoms, which are biological, morphological and mechanical alterations responsible for pain. Weil´s osteotomy is commonly used for multiple forefoot pathologies, including metatarsalgias. MATERIAL AND METHODS: We included patients with first-line failure syndrome and associated mechanical metatarsalgia-producing deformities...
January 2017: Acta Ortopédica Mexicana
#6
Matthias Papo, Eli L Diamond, Fleur Cohen-Aubart, Jean-François Emile, Damien Roos-Weil, Nishant Gupta, Benjamin H Durham, Neval Ozkaya, Ahmet Dogan, Gary A Ulaner, Raajit Rampal, Jean-Emmanuel Kahn, Thomas Sené, Frédéric Charlotte, Baptiste Hervier, Caroline Besnard, Olivier A Bernard, Catherine Settegrana, Nathalie Droin, Zofia Hélias-Rodzewicz, Zahir Amoura, Omar Abdel-Wahab, Julien Haroche
Erdheim-Chester disease (ECD) is a rare non-Langerhans cell histiocytosis that most commonly affects adults and is driven by a high frequency of mutations in BRAF , MAP2K1 , and kinases promoting MAPK signaling. Because of the relative rarity of ECD, key clinical features of the disease may not be well defined. Across a multi-institutional cohort of 189 patients with ECD and ECD overlapping with Langerhans cell histiocytosis (so-called mixed histiocytosis [MH]), we identified an unexpected and heretofore undescribed frequent occurrence of myeloid neoplasms among patients with ECD and MH...
August 24, 2017: Blood
#7
Pavel Chernyavskiy, Elijah F Edmondson, Michael M Weil, Mark P Little
BACKGROUND: Some highly penetrant familial cancer syndromes exhibit elevated leukaemia risk, and there is evidence for familial clustering of lung cancer and other common cancers. Lung cancer and leukaemia are strongly radiogenic, but there are few indications that high-energy beam irradiation is markedly more effective than lower-energy radiation. METHODS: We used a Cox model with familially structured random effects to assess 16 mortality end points in a group of 1850 mice in 47 families maintained in a circular-breeding scheme, exposed to accelerated Si or Fe ions (0...
June 27, 2017: British Journal of Cancer
#8
Lina María Echeverri-Toro, Sara Penagos, Laura Castañeda, Pablo Villa, Santiago Atehortúa, Faiver Ramírez, Carlos Restrepo, Sigifredo Ospina, Yuli Agudelo, Alicia Hidrón, Paola Agudelo, Eliana Valderrama, Carlos Andrés Agudelo
INTRODUCTION: Leptospirosis remains a significant health problem in tropical regions including Latin America, where its presentation is 100 times higher than that observed in other regions of the world. Mortality reaches 10% in severe cases. Its diagnosis is challenging because clinical manifestations during the initial phase are non-specific and because of limited availability of diagnostic tests. OBJECTIVE: To describe the demographic and clinical characteristics and the outcomes in hospitalized patients with leptospirosis...
January 24, 2017: Biomédica: Revista del Instituto Nacional de Salud
#9
Guilhem Lignon, Fleur Beres, Mickael Quentric, Stephan Rouzière, Raphael Weil, Muriel De La Dure-Molla, Adrien Naveau, Renata Kozyraki, Arnaud Dessombz, Ariane Berdal
Background and objective:FAM20A gene mutations result in enamel renal syndrome (ERS) associated with amelogenesis imperfecta (AI), nephrocalcinosis, gingival fibromatosis, and impaired tooth eruption. FAM20A would control the phosphorylation of enamel peptides and thus enamel mineralization. Here, we characterized the structure and chemical composition of unerupted tooth enamel from ERS patients and healthy subjects. Methods: Tooth sections were analyzed by Scanning Electron Microscopy (SEM), Energy Dispersive Spectroscopy (EDS), X-Ray Diffraction (XRD), and X-Ray Fluorescence (XRF)...
2017: Frontiers in Physiology
#10
P O Champagne, A Sajadi, C Huot, M Traistaru, C Mercier, A G Weil, L Crevier
Cerebral salt wasting syndrome (CSWS) is a well-described consequence of several neurological disorders. Although the exact etiology of CSWS is still not completely elucidated, it is believed that the hypothalamus plays a pivotal role in the genesis of this disorder. We report for the first time 3 cases of CSWS occurring during the post-operative course following surgical resection of exophytic bulbar pilocytic astrocytomas in children. Since these 3 cases shared in common a medial implication of the medulla, we suggest that specific interconnectivity between the dorso-medial portion of the medulla oblongata and the hypothalamus might thus represent an anatomical pathway of interest in the pathogenesis of CSWS...
May 2017: Medical Hypotheses
#11
Keqin Liu, Dominik Beck, Julie A I Thoms, Liang Liu, Weiling Zhao, John E Pimanda, Xiaobo Zhou
Motivation: Long non-coding RNAs (lncRNAs) have been implicated in the regulation of diverse biological functions. The number of newly identified lncRNAs has increased dramatically in recent years but their expression and function have not yet been described from most diseases. To elucidate lncRNA function in human disease, we have developed a novel network based method (NLCFA) integrating correlations between lncRNA, protein coding genes and noncoding miRNAs. We have also integrated target gene associations and protein-protein interactions and designed our model to provide information on the combined influence of mRNAs, lncRNAs and miRNAs on cellular signal transduction networks...
September 1, 2017: Bioinformatics
#12
Evangelia S Panagiotidou, Sofia V Akritidou, Seraphim T Kotoulas, Evdokia K Sourla, Basilis G Mpikos, Basilis P Bagalas, Ioannis T Stanopoulos, Katalin M Fekete, Athanasia D Pataka
Severe leptospirosis can be a rare cause of acute respiratory distress syndrome (ARDS) and multiorgan failure. A patient who made an impact on how I practice was a case of severe leptospirosis (Weil's disease) that presented as ARDS in the ICU. Leptospirosis is an under-reported infectious disease worldwide and should be considered as a cause of ARDS especially in patients with exposure history complicated with diffuse alveolar bleeding (DAH), icteric hepatitis and renal deterioration. Empiric treatment should be recommended before confirmation of laboratory tests as serological diagnosis is time consuming...
January 2018: Journal of Infection and Public Health
#13
Jing He, Bin Yi, Yang Chen, Qing Huang, Huan Wang, Kaizhi Lu, Weiling Fu
Hepatopulmonary syndrome (HPS) is a serious complication of advanced liver disease, which markedly increases mortality. Pulmonary vascular remodelling (PVR) induced by circulating mediators plays an important role in the pathogenesis of HPS, while the underlying mechanism remains undefined. In the present study, we reported that endothelin-1 (ET-1) is up-regulated and annexin A1(ANXA1) is down-regulated in HPS rat, and ET-1 decreases the ANXA1 expression in a dose-dependent manner in rat pulmonary arterial smooth muscle cells (PASMCs)...
2017: PloS One
#14
Delphine Weil, Eric Levesque, Marc McPhail, Rodrigo Cavallazzi, Eleni Theocharidou, Evangelos Cholongitas, Arnaud Galbois, Heng Chih Pan, Constantine J Karvellas, Bertrand Sauneuf, René Robert, Jérome Fichet, Gaël Piton, Thierry Thevenot, Gilles Capellier, Vincent Di Martino
BACKGROUND: The best predictors of short- and medium-term mortality of cirrhotic patients receiving intensive care support are unknown. METHODS: We conducted meta-analyses from 13 studies (2523 cirrhotics) after selection of original articles and response to a standardized questionnaire by the corresponding authors. End-points were in-ICU, in-hospital, and 6-month mortality in ICU survivors. A total of 301 pooled analyses, including 95 analyses restricted to 6-month mortality among ICU survivors, were conducted considering 249 variables (including reason for admission, organ replacement therapy, and composite prognostic scores)...
December 2017: Annals of Intensive Care
#15
M Luke McCormack, Dali Guo, Colleen M Iversen, Weile Chen, David M Eissenstat, Christopher W Fernandez, Le Li, Chengen Ma, Zeqing Ma, Hendrik Poorter, Peter B Reich, Marcin Zadworny, Amy Zanne
Trait-based approaches provide a useful framework to investigate plant strategies for resource acquisition, growth, and competition, as well as plant impacts on ecosystem processes. Despite significant progress capturing trait variation within and among stems and leaves, identification of trait syndromes within fine-root systems and between fine roots and other plant organs is limited. Here we discuss three underappreciated areas where focused measurements of fine-root traits can make significant contributions to ecosystem science...
March 13, 2017: New Phytologist
#16
Ryo Ozuru, Mitsumasa Saito, Takaaki Kanemaru, Satoshi Miyahara, Sharon Y A M Villanueva, Gerald L Murray, Ben Adler, Jun Fujii, Shin-Ichi Yoshida
Leptospirosis is one of the most widespread zoonoses in the world, and its most severe form in humans, "Weil's disease," may lead to jaundice, hemorrhage, renal failure, pulmonary hemorrhage syndrome, and sometimes,fatal multiple organ failure. Although the mechanisms underlying jaundice in leptospirosis have been gradually unraveled, the pathophysiology and distribution of leptospires during the early stage of infection are not well understood. Therefore, we investigated the hamster leptospirosis model, which is the accepted animal model of human Weil's disease, by using an in vivo imaging system to observe the whole bodies of animals infected with Leptospira interrogans and to identify the colonization and growth sites of the leptospires during the early phase of infection...
2017: PloS One
#17
Lu Wang, Jingbo Wang, Weile Cai, Yongquan Shi, Xinmin Zhou, Guanya Guo, Changcun Guo, Xiaofeng Huang, Zheyi Han, Shuai Zhang, Shuoyi Ma, Xia Zhou, Daiming Fan, M Eric Gershwin, Ying Han
Danon disease is a genetic deficiency in lysosome-associated membrane protein 2 (LAMP-2), a highly glycosylated constituent of the lysosomal membrane and characterized by a cardiomyopathy, skeletal muscle myopathy, and cognitive impairment. Patients, however, often manifest hepatic abnormalities, but liver function has not been well evaluated and the syndrome is relatively uncommon. Hence, we have taken advantage of a rat that has been deleted of LAMP-2 to study the relative role of LAMP-2 on liver function...
August 2017: Clinical Reviews in Allergy & Immunology
#18
Flávio Teles, Júlia Vanessa de Mendonça Uchôa, Darina Mirelli Barreto Mendonça, André Falcão Pedrosa Costa
Acute kidney injury (AKI) is one of the most serious complications of leptospirosis. In recent years, studies have evaluated this complication using the risk, injury, failure, loss, and end-stage kidney disease and the acute kidney injury network classification systems. More recently, the kidney disease improving global outcomes (KDIGO) criteria have been developed to increase accuracy in detecting AKI. The aim of the present study was to determine the prevalence and factors associated with AKI and mortality in patients with leptospirosis, using KDIGO criteria...
December 2016: Clinical Nephrology
#19
Hua Tan, Hualin Yi, Weiling Zhao, Jian-Xing Ma, Yuanyuan Zhang, Xiaobo Zhou
Podocytes are mainly involved in the regulation of glomerular filtration rate (GFR) under physiological condition. Podocyte depletion is a crucial pathological alteration in diabetic nephropathy (DN) and results in a broad spectrum of clinical syndromes such as protein urine and renal insufficiency. Recent studies indicate that depleted podocytes can be regenerated via differentiation of the parietal epithelial cells (PECs), which serve as the local progenitors of podocytes. However, the podocyte regeneration process is regulated by a complicated mechanism of cell-cell interactions and cytokine stimulations, which has been studied in a piecemeal manner rather than systematically...
November 8, 2016: Oncotarget
#20
M Vignon, V Javaugue, M P Alexander, K El-Karoui, A Karras, D Roos-Weil, B Royer, B Asli, B Knebelmann, G Touchard, A Jaccard, B Arnulf, F Bridoux, N Leung, J P Fermand
We retrospectively reviewed 49 patients with light chain (LC) Fanconi syndrome (FS). Patients presented with chronic kidney disease (median estimated glomerular filtration rate (eGFR) of 33 ml/min/1.73 m2) and tubular proteinuria. All patients tested had elevated fractional excretion of phosphate, uric acid, generalized aminoaciduria and/or normoglycemic glycosuria. Thirty-eight patients had monoclonal gammopathy of renal significance and eleven patients had an overt hematological malignancy. The monoclonal LC isotype was kappa in 46/49 cases...
January 2017: Leukemia: Official Journal of the Leukemia Society of America, Leukemia Research Fund, U.K
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