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Sample records for comprehensive molecular etiology

  1. Comprehensive molecular etiology analysis of nonsyndromic hearing impairment from typical areas in China

    Directory of Open Access Journals (Sweden)

    Kang Dongyang

    2009-09-01

    Full Text Available Abstract Background Every year, 30,000 babies are born with congenital hearing impairment in China. The molecular etiology of hearing impairment in the Chinese population has not been investigated thoroughly. To provide appropriate genetic testing and counseling to families, we performed a comprehensive investigation of the molecular etiology of nonsyndromic deafness in two typical areas from northern and southern China. Methods A total of 284 unrelated school children with hearing loss who attended special education schools in China were enrolled in this study, 134 from Chifeng City in Inner Mongolia and the remaining 150 from Nangtong City in JiangSu Province. Screening was performed for GJB2, GJB3, GJB6, SLC26A4, 12S rRNA, and tRNAser(UCN genes in this population. All patients with SLC26A4 mutations or variants were subjected to high-resolution temporal bone CT scan to verify the enlarged vestibular aqueduct. Results Mutations in the GJB2 gene accounted for 18.31% of the patients with nonsyndromic hearing loss, 1555A>G mutation in mitochondrial DNA accounted for 1.76%, and SLC26A4 mutations accounted for 13.73%. Almost 50% of the patients with nonsyndromic hearing loss in these typical Chinese areas carried GJB2 or SLC26A4 mutations. No significant differences in mutation spectrum or prevalence of GJB2 and SLC26A4 were found between the two areas. Conclusion In this Chinese population, 54.93% of cases with hearing loss were related to genetic factors. The GJB2 gene accounted for the etiology in about 18.31% of the patients with hearing loss, SLC26A4 accounted for about 13.73%, and mtDNA 1555A>G mutation accounted for 1.76%. Mutations in GJB3, GJB6, and mtDNA tRNAser(UCN were not common in this Chinese cohort. Conventionally, screening is performed for GJB2, SLC26A4, and mitochondrial 12S rRNA in the Chinese deaf population.

  2. Etiology of Inguinal Hernias: A Comprehensive Review

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    Stina Öberg

    2017-09-01

    Full Text Available BackgroundThe etiology of inguinal hernias remains uncertain even though the lifetime risk of developing an inguinal hernia is 27% for men and 3% for women. The aim was to summarize the evidence on hernia etiology, with focus on differences between lateral and medial hernias.ResultsLateral and medial hernias seem to have common as well as different etiologies. A patent processus vaginalis and increased cumulative mechanical exposure are risk factors for lateral hernias. Patients with medial hernias seem to have a more profoundly altered connective tissue architecture and homeostasis compared with patients with lateral hernias. However, connective tissue alteration may play a role in development of both subtypes. Inguinal hernias have a hereditary component with a complex inheritance pattern, and inguinal hernia susceptible genes have been identified that also are involved in connective tissue homeostasis.ConclusionThe etiology of lateral and medial hernias are at least partly different, but the final explanations are still lacking on certain areas. Further investigations of inguinal hernia genes may explain the altered connective tissue observed in patients with inguinal hernias. The precise mechanisms why processus vaginalis fails to obliterate in certain patients should also be clarified. Not all patients with a patent processus vaginalis develop a lateral hernia, but increased intraabdominal pressure appears to be a contributing factor.

  3. Use and evaluation of molecular diagnostics for pneumonia etiology studies

    NARCIS (Netherlands)

    Bhat, Niranjan; O'Brien, Katherine L.; Karron, Ruth A.; Driscoll, Amanda J.; Murdoch, David R.; Black, Robert E.; Bhutta, Zulfiqar A.; Campbell, Harry; Cherian, Thomas; Crook, Derrick W.; de Jong, Menno D.; Dowell, Scott F.; Graham, Stephen M.; Klugman, Keith P.; Lanata, Claudio F.; Madhi, Shabir A.; Martin, Paul; Nataro, James P.; Piazza, Franco M.; Qazi, Shamim A.; Zar, Heather J.

    2012-01-01

    Comprehensive microbiological testing will be a core function of the Pneumonia Etiology Research for Child Health (PERCH) project. The development stage of PERCH provided the time and resources necessary for us to conduct a comprehensive review of the current state of respiratory diagnostics. These

  4. Molecular Etiology of Hereditary Single-Side Deafness

    Science.gov (United States)

    Kim, Shin Hye; Kim, Ah Reum; Choi, Hyun Seok; Kim, Min Young; Chun, Eun Hi; Oh, Seung-Ha; Choi, Byung Yoon

    2015-01-01

    Abstract Unilateral sensorineural hearing loss (USNHL)/single-side deafness (SSD) is a frequently encountered disability in children. The etiology of a substantial portion of USNHL/SSD still remains unknown, and genetic causes have not been clearly elucidated. In this study, the authors evaluated the heritability of USNHL/SSD. The authors sequentially recruited 50 unrelated children with SSD. For an etiologic diagnosis, we performed a rigorous review on the phenotypes of family members of all children and conducted, if necessary, molecular genetic tests including targeted exome sequencing of 129 deafness genes. Among the 50 SSD children cohort, the authors identify 4 (8%) unrelated SSD probands from 4 families (SH136, SB173, SB177, and SB199) with another hearing impaired family members. Notably, all 4 probands in our cohort with a familial history of SSD also have pigmentary abnormalities such as brown freckles or premature gray hair within first degree relatives, which may indicate that genes whose products are involved with pigmentary disorder could be candidates for heritable SSD. Indeed, SH136 and SB199 turned out to segregate a mutation in MITF and PAX3, respectively, leading to a molecular diagnosis of Waardenburg syndrome (WS). We report, for the first time in the literature, a significant heritability of pediatric SSD. There is a strong association between the heritability of USNHL/SSD and the pigmentary abnormality, shedding a new light on the understanding of the molecular basis of heritable USNHL/SSD. In case of children with congenital SSD, it would be mandatory to rigorously screen pigmentary abnormalities. WS should also be included in the differential diagnosis of children with USNHL/SSD, especially in a familial form. PMID:26512583

  5. [Etiological and molecular characteristics of diarrhea caused Proteus mirabilis].

    Science.gov (United States)

    Shi, Xiaolu; Hu, Qinghua; Lin, Yiman; Qiu, Yaqun; Li, Yinghui; Jiang, Min; Chen, Qiongcheng

    2014-06-01

    To analyze the etiological characteristics, virulence genes and plasmids that carrying diarrhea-causing Proteus mirabilis and to assess their relationship with drug resistance and pathogenicity. Proteus mirabilis coming from six different sources (food poisoning, external environment and healthy people) were analyzed biochemically, on related susceptibility and pulsed-field gel electrophoresis (PFGE). Virulence genes were detected by PCR. Plasmids were extracted and sequenced after gel electrophoresis purification. The biochemical characteristics of Proteus mirabilis from different sources seemed basically the same, and each of them showed having common virulence genes, as ureC, rsmA, hpmA and zapA. However, the PFGE patterns and susceptibility of these strains were different, so as the plasmids that they carried. Plasmid that presented in the sequenced strain showed that the 2 683 bp length plasmid encodes qnrD gene was associated with the quinolone resistance. Etiological characteristics and molecular characteristics of Proteus mirabilis gathered from different sources, were analyzed. Results indicated that traditional biochemical analysis and common virulence gene identification might be able to distinguish the strains with different sources. However, PFGE and plasmids analysis could distinguish the sources of strains and to identify those plasmids that commonly carried by the drug-resistant strains. These findings also provided theoretical basis for further study on the nature of resistance and pathogenicity in Proteus mirabilis.

  6. Feminist Framework Plus: Knitting Feminist Theories of Rape Etiology Into a Comprehensive Model.

    Science.gov (United States)

    McPhail, Beverly A

    2016-07-01

    The radical-liberal feminist perspective on rape posits that the assault is motivated by power and control rather than sexual gratification and is a violent rather than a sexual act. However, rape is a complex act. Relying on only one early strand of feminist thought to explain the etiology of rape limits feminists' understanding of rape and the practice based upon the theory. The history of the adoption of the "power, not sex" theory is presented and the model critiqued. A more integrated model is developed and presented, the Feminist Framework Plus, which knits together five feminist theories into a comprehensive model that better explains the depth and breadth of the etiology of rape. Empirical evidence that supports each theory is detailed as well as the implications of the model on service provision, education, and advocacy. © The Author(s) 2015.

  7. Comprehensive Molecular Characterization of Pheochromocytoma and Paraganglioma

    NARCIS (Netherlands)

    Fishbein, Lauren; Leshchiner, Ignaty; Walter, Vonn; Danilova, Ludmila; Robertson, A. Gordon; Johnson, Amy R.; Lichtenberg, Tara M.; Murray, Bradley A.; Ghayee, Hans K.; Else, Tobias; Ling, Shiyun; Jefferys, Stuart R.; de Cubas, Aguirre A.; Wenz, Brandon; Korpershoek, Esther; Amelio, Antonio L.; Makowski, Liza; Rathmell, W. Kimryn; Gimenez-Roqueplo, Anne Paule; Giordano, Thomas J.; Asa, Sylvia L.; Tischler, Arthur S.; Akbani, Rehan; Ally, Adrian; Amar, Laurence; Amelio, Antonio L.; Arachchi, Harindra; Asa, Sylvia L.; Auchus, Richard J.; Auman, J. Todd; Baertsch, Robert; Balasundaram, Miruna; Balu, Saianand; Bartsch, Detlef K.; Baudin, Eric; Bauer, Thomas; Beaver, Allison; Benz, Christopher; Beroukhim, Rameen; Beuschlein, Felix; Bodenheimer, Tom; Boice, Lori; Bowen, Jay; Bowlby, Reanne; Brooks, Denise; Carlsen, Rebecca; Carter, Suzie; Cassol, Clarissa A.; Cherniack, Andrew D.; Chin, Lynda; Cho, Juok; Chuah, Eric; Chudamani, Sudha; Cope, Leslie; Crain, Daniel; Curley, Erin; Danilova, Ludmila; de Cubas, Aguirre A.; de Krijger, Ronald R.; Demchok, John A.; Deutschbein, Timo; Dhalla, Noreen; Dimmock, David; Dinjens, Winand N M; Else, Tobias; Eng, Charis; Eschbacher, Jennifer; Fassnacht, Martin; Felau, Ina; Feldman, Michael; Ferguson, Martin L.; Fiddes, Ian; Fishbein, Lauren; Frazer, Scott; Gabriel, Stacey B.; Gardner, Johanna; Gastier-Foster, Julie M.; Gehlenborg, Nils; Gerken, Mark; Getz, Gad; Geurts, Jennifer; Ghayee, Hans K.; Gimenez-Roqueplo, Anne Paule; Giordano, Thomas J.; Goldman, Mary; Graim, Kiley; Gupta, Manaswi; Haan, David; Hahner, Stefanie; Hantel, Constanze; Haussler, David; Hayes, D. Neil; Heiman, David I.; Hoadley, Katherine A.; Holt, Robert A.; Hoyle, Alan P.; Huang, Mei; Hunt, Bryan; Hutter, Carolyn M.; Jefferys, Stuart R.; Johnson, Amy R.; Jones, Steven J M; Jones, Corbin D.; Kasaian, Katayoon; Kebebew, Electron; Kim, Jaegil; Kimes, Patrick; Knijnenburg, Theo; Korpershoek, Esther; Lander, Eric; Lawrence, Michael S.; Lechan, Ronald; Lee, Darlene; Leraas, Kristen M.; Lerario, Antonio; Leshchiner, Ignaty; Lichtenberg, Tara M.; Lin, Pei; Ling, Shiyun; Liu, Jia; LiVolsi, Virginia A.; Lolla, Laxmi; Lotan, Yair; Lu, Yiling; Ma, Yussanne; Maison, Nicole; Makowski, Liza; Mallery, David; Mannelli, Massimo; Marquard, Jessica; Marra, Marco A.; Matthew, Thomas; Mayo, Michael; Méatchi, Tchao; Meng, Shaowu; Merino, Maria J.; Mete, Ozgur; Meyerson, Matthew; Mieczkowski, Piotr A.; Mills, Gordon B.; Moore, Richard A.; Morozova, Olena; Morris, Scott; Mose, Lisle E.; Mungall, Andrew J.; Murray, Bradley A.; Naresh, Rashi; Nathanson, Katherine L.; Newton, Yulia; Ng, Sam; Ni, Ying; Noble, Michael S.; Nwariaku, Fiemu; Pacak, Karel; Parker, Joel S.; Paul, Evan; Penny, Robert; Perou, Charles M.; Perou, Amy H.; Pihl, Todd; Powers, James; Rabaglia, Jennifer; Radenbaugh, Amie; Ramirez, Nilsa C.; Rao, Arjun; Rathmell, W. Kimryn; Riester, Anna; Roach, Jeffrey; Robertson, A. Gordon; Sadeghi, Sara; Saksena, Gordon; Salama, Sofie; Saller, Charles; Sandusky, George; Sbiera, Silviu; Schein, Jacqueline E.; Schumacher, Steven E.; Shelton, Candace; Shelton, Troy; Sheth, Margi; Shi, Yan; Shih, Juliann; Shmulevich, Ilya; Simons, Janae V.; Sipahimalani, Payal; Skelly, Tara; Sofia, Heidi J.; Sokolov, Artem; Soloway, Matthew G.; Sougnez, Carrie; Stuart, Josh; Sun, Charlie; Swatloski, Teresa; Tam, Angela; Tan, Donghui; Tarnuzzer, Roy; Tarvin, Katherine; Thiessen, Nina; Thorne, Leigh B.; Timmers, Henri J.; Tischler, Arthur S.; Tse, Kane; Uzunangelov, Vlado; van Berkel, Anouk; Veluvolu, Umadevi; Vicha, Ales; Voet, Doug; Waldmann, Jens; Walter, Vonn; Wan, Yunhu; Wang, Zhining; Wang, Tracy S.; Weaver, Joellen; Weinstein, John N.; Weismann, Dirk; Wenz, Brandon; Wilkerson, Matthew D.; Wise, Lisa; Wong, Tina; Wong, Christopher; Wu, Ye; Yang, Liming; Zelinka, Tomas; Zenklusen, Jean C.; Zhang, Jiashan (Julia); Zhang, Wei; Zhu, Jingchun; Zinzindohoué, Franck; Zmuda, Erik; Pacak, Karel; Nathanson, Katherine L.; Wilkerson, Matthew D.

    2017-01-01

    We report a comprehensive molecular characterization of pheochromocytomas and paragangliomas (PCCs/PGLs), a rare tumor type. Multi-platform integration revealed that PCCs/PGLs are driven by diverse alterations affecting multiple genes and pathways. Pathogenic germline mutations occurred in eight

  8. [Etiologic diagnosis in meningitis and encephalitis molecular biology techniques].

    Science.gov (United States)

    Conca, Natalia; Santolaya, María Elena; Farfan, Mauricio J; Cofré, Fernanda; Vergara, Alejandra; Salazar, Liliana; Torres, Juan Pablo

    2016-01-01

    The aetiological study of infections of the central nervous system has traditionally been performed using bacterial cultures and, more recently, using polymerase chain reaction (PCR) for herpes simplex virus (HSV). Bacterial cultures may not have good performance, especially in the context of patients who have received antibiotics prior to sampling, and a request for HSV only by PCR reduces the information to only one aetiological agent. The aim of this study is to determine the infectious causes of meningitis and encephalitis, using traditional microbiology and molecular biology to improve the aetiological diagnosis of these diseases. A prospective study was conducted on 19 patients with suspected meningitis, admitted to the Luis Calvo Mackenna Hospital in Santiago, Chile, from March 1, 2011 to March 30, 2012. After obtaining informed consent, the CSF samples underwent cytochemical study, conventional culture, multiplex PCR for the major producing bacterial meningitis (N. meningitidis, S. pneumoniae, H. influenzae), real-time single PCR for HSV-1 and 2, VZV, EBV, CMV, HHV-6 and enterovirus. Clinical and epidemiological data were also collected from the clinical records. Of the 19 patients analysed, 2 were diagnosed by conventional methods and 7 by adding molecular biology (increase to 37%). Three patients had meningitis due to S. pneumoniae, one due to Enterobacter cloacae, 2 patients meningoencephalitis HSV-1, and one VZV meningitis. The addition of PCR to conventional diagnostic methods in CNS infections increases the probability of finding the causal agent. This allows a more adequate, timely and rational management of the disease. Copyright © 2014. Publicado por Elsevier España, S.L.U.

  9. Comprehensive molecular characterization of gastric adenocarcinoma

    Science.gov (United States)

    Bass, Adam J.; Thorsson, Vesteinn; Shmulevich, Ilya; Reynolds, Sheila M.; Miller, Michael; Bernard, Brady; Hinoue, Toshinori; Laird, Peter W.; Curtis, Christina; Shen, Hui; Weisenberger, Daniel J.; Schultz, Nikolaus; Shen, Ronglai; Weinhold, Nils; Kelsen, David P.; Bowlby, Reanne; Chu, Andy; Kasaian, Katayoon; Mungall, Andrew J.; Robertson, A. Gordon; Sipahimalani, Payal; Cherniack, Andrew; Getz, Gad; Liu, Yingchun; Noble, Michael S.; Pedamallu, Chandra; Sougnez, Carrie; Taylor-Weiner, Amaro; Akbani, Rehan; Lee, Ju-Seog; Liu, Wenbin; Mills, Gordon B.; Yang, Da; Zhang, Wei; Pantazi, Angeliki; Parfenov, Michael; Gulley, Margaret; Piazuelo, M. Blanca; Schneider, Barbara G.; Kim, Jihun; Boussioutas, Alex; Sheth, Margi; Demchok, John A.; Rabkin, Charles S.; Willis, Joseph E.; Ng, Sam; Garman, Katherine; Beer, David G.; Pennathur, Arjun; Raphael, Benjamin J.; Wu, Hsin-Ta; Odze, Robert; Kim, Hark K.; Bowen, Jay; Leraas, Kristen M.; Lichtenberg, Tara M.; Weaver, Stephanie; McLellan, Michael; Wiznerowicz, Maciej; Sakai, Ryo; Getz, Gad; Sougnez, Carrie; Lawrence, Michael S.; Cibulskis, Kristian; Lichtenstein, Lee; Fisher, Sheila; Gabriel, Stacey B.; Lander, Eric S.; Ding, Li; Niu, Beifang; Ally, Adrian; Balasundaram, Miruna; Birol, Inanc; Bowlby, Reanne; Brooks, Denise; Butterfield, Yaron S. N.; Carlsen, Rebecca; Chu, Andy; Chu, Justin; Chuah, Eric; Chun, Hye-Jung E.; Clarke, Amanda; Dhalla, Noreen; Guin, Ranabir; Holt, Robert A.; Jones, Steven J.M.; Kasaian, Katayoon; Lee, Darlene; Li, Haiyan A.; Lim, Emilia; Ma, Yussanne; Marra, Marco A.; Mayo, Michael; Moore, Richard A.; Mungall, Andrew J.; Mungall, Karen L.; Nip, Ka Ming; Robertson, A. Gordon; Schein, Jacqueline E.; Sipahimalani, Payal; Tam, Angela; Thiessen, Nina; Beroukhim, Rameen; Carter, Scott L.; Cherniack, Andrew D.; Cho, Juok; Cibulskis, Kristian; DiCara, Daniel; Frazer, Scott; Fisher, Sheila; Gabriel, Stacey B.; Gehlenborg, Nils; Heiman, David I.; Jung, Joonil; Kim, Jaegil; Lander, Eric S.; Lawrence, Michael S.; Lichtenstein, Lee; Lin, Pei; Meyerson, Matthew; Ojesina, Akinyemi I.; Pedamallu, Chandra Sekhar; Saksena, Gordon; Schumacher, Steven E.; Sougnez, Carrie; Stojanov, Petar; Tabak, Barbara; Taylor-Weiner, Amaro; Voet, Doug; Rosenberg, Mara; Zack, Travis I.; Zhang, Hailei; Zou, Lihua; Protopopov, Alexei; Santoso, Netty; Parfenov, Michael; Lee, Semin; Zhang, Jianhua; Mahadeshwar, Harshad S.; Tang, Jiabin; Ren, Xiaojia; Seth, Sahil; Yang, Lixing; Xu, Andrew W.; Song, Xingzhi; Pantazi, Angeliki; Xi, Ruibin; Bristow, Christopher A.; Hadjipanayis, Angela; Seidman, Jonathan; Chin, Lynda; Park, Peter J.; Kucherlapati, Raju; Akbani, Rehan; Ling, Shiyun; Liu, Wenbin; Rao, Arvind; Weinstein, John N.; Kim, Sang-Bae; Lee, Ju-Seog; Lu, Yiling; Mills, Gordon; Laird, Peter W.; Hinoue, Toshinori; Weisenberger, Daniel J.; Bootwalla, Moiz S.; Lai, Phillip H.; Shen, Hui; Triche, Timothy; Van Den Berg, David J.; Baylin, Stephen B.; Herman, James G.; Getz, Gad; Chin, Lynda; Liu, Yingchun; Murray, Bradley A.; Noble, Michael S.; Askoy, B. Arman; Ciriello, Giovanni; Dresdner, Gideon; Gao, Jianjiong; Gross, Benjamin; Jacobsen, Anders; Lee, William; Ramirez, Ricardo; Sander, Chris; Schultz, Nikolaus; Senbabaoglu, Yasin; Sinha, Rileen; Sumer, S. Onur; Sun, Yichao; Weinhold, Nils; Thorsson, Vésteinn; Bernard, Brady; Iype, Lisa; Kramer, Roger W.; Kreisberg, Richard; Miller, Michael; Reynolds, Sheila M.; Rovira, Hector; Tasman, Natalie; Shmulevich, Ilya; Ng, Santa Cruz Sam; Haussler, David; Stuart, Josh M.; Akbani, Rehan; Ling, Shiyun; Liu, Wenbin; Rao, Arvind; Weinstein, John N.; Verhaak, Roeland G.W.; Mills, Gordon B.; Leiserson, Mark D. M.; Raphael, Benjamin J.; Wu, Hsin-Ta; Taylor, Barry S.; Black, Aaron D.; Bowen, Jay; Carney, Julie Ann; Gastier-Foster, Julie M.; Helsel, Carmen; Leraas, Kristen M.; Lichtenberg, Tara M.; McAllister, Cynthia; Ramirez, Nilsa C.; Tabler, Teresa R.; Wise, Lisa; Zmuda, Erik; Penny, Robert; Crain, Daniel; Gardner, Johanna; Lau, Kevin; Curely, Erin; Mallery, David; Morris, Scott; Paulauskis, Joseph; Shelton, Troy; Shelton, Candace; Sherman, Mark; Benz, Christopher; Lee, Jae-Hyuk; Fedosenko, Konstantin; Manikhas, Georgy; Potapova, Olga; Voronina, Olga; Belyaev, Smitry; Dolzhansky, Oleg; Rathmell, W. Kimryn; Brzezinski, Jakub; Ibbs, Matthew; Korski, Konstanty; Kycler, Witold; ŁaŸniak, Radoslaw; Leporowska, Ewa; Mackiewicz, Andrzej; Murawa, Dawid; Murawa, Pawel; Spychała, Arkadiusz; Suchorska, Wiktoria M.; Tatka, Honorata; Teresiak, Marek; Wiznerowicz, Maciej; Abdel-Misih, Raafat; Bennett, Joseph; Brown, Jennifer; Iacocca, Mary; Rabeno, Brenda; Kwon, Sun-Young; Penny, Robert; Gardner, Johanna; Kemkes, Ariane; Mallery, David; Morris, Scott; Shelton, Troy; Shelton, Candace; Curley, Erin; Alexopoulou, Iakovina; Engel, Jay; Bartlett, John; Albert, Monique; Park, Do-Youn; Dhir, Rajiv; Luketich, James; Landreneau, Rodney; Janjigian, Yelena Y.; Kelsen, David P.; Cho, Eunjung; Ladanyi, Marc; Tang, Laura; McCall, Shannon J.; Park, Young S.; Cheong, Jae-Ho; Ajani, Jaffer; Camargo, M. Constanza; Alonso, Shelley; Ayala, Brenda; Jensen, Mark A.; Pihl, Todd; Raman, Rohini; Walton, Jessica; Wan, Yunhu; Demchok, John A.; Eley, Greg; Mills Shaw, Kenna R.; Sheth, Margi; Tarnuzzer, Roy; Wang, Zhining; Yang, Liming; Zenklusen, Jean Claude; Davidsen, Tanja; Hutter, Carolyn M.; Sofia, Heidi J.; Burton, Robert; Chudamani, Sudha; Liu, Jia

    2014-01-01

    Gastric cancer is a leading cause of cancer deaths, but analysis of its molecular and clinical characteristics has been complicated by histological and aetiological heterogeneity. Here we describe a comprehensive molecular evaluation of 295 primary gastric adenocarcinomas as part of The Cancer Genome Atlas (TCGA) project. We propose a molecular classification dividing gastric cancer into four subtypes: tumours positive for Epstein–Barr virus, which display recurrent PIK3CA mutations, extreme DNA hypermethylation, and amplification of JAK2, CD274 (also known as PD-L1) and PDCD1LG2 (also knownasPD-L2); microsatellite unstable tumours, which show elevated mutation rates, including mutations of genes encoding targetable oncogenic signalling proteins; genomically stable tumours, which are enriched for the diffuse histological variant and mutations of RHOA or fusions involving RHO-family GTPase-activating proteins; and tumours with chromosomal instability, which show marked aneuploidy and focal amplification of receptor tyrosine kinases. Identification of these subtypes provides a roadmap for patient stratification and trials of targeted therapies. PMID:25079317

  10. [CONTEMPORARY MOLECULAR-GENETIC METHODS USED FOR ETIOLOGIC DIAGNOSTICS OF SEPSIS].

    Science.gov (United States)

    Gavrilov, S N; Skachkova, T S; Shipulina, O Yu; Savochkina, Yu A; Shipulin, G A; Maleev, V V

    2016-01-01

    Etiologic diagnostics of sepsis is one of the most difficult problems of contemporary medicine due to a wide variety of sepsis causative agents, many of which are components of normal human microflora. Disadvantages of contemporary "golden standard" of microbiologic diagnostics of sepsis etiology by seeding of blood for sterility are duration of cultivation, limitation in detection of non-cultivable forms of microorganisms, significant effect of preliminary empiric antibiotics therapy on results of the analysis. Methods of molecular diagnostics that are being actively developed and integrated during the last decade are deprived of these disadvantages. Main contemporary methods of molecular-biological diagnostics are examined in the review, actualdata on their diagnostic characteristic are provided. Special attention is given to methods of PCR-diagnostics, including novel Russian developments. Methods of nucleic acid hybridization and proteomic analysis are examined in comparative aspect. Evaluation of application and perspectives of development of methods of molecular diagnostics of sepsis is given.

  11. Molecular pathological epidemiology: new developing frontiers of big data science to study etiologies and pathogenesis.

    Science.gov (United States)

    Hamada, Tsuyoshi; Keum, NaNa; Nishihara, Reiko; Ogino, Shuji

    2017-03-01

    Molecular pathological epidemiology (MPE) is an integrative field that utilizes molecular pathology to incorporate interpersonal heterogeneity of a disease process into epidemiology. In each individual, the development and progression of a disease are determined by a unique combination of exogenous and endogenous factors, resulting in different molecular and pathological subtypes of the disease. Based on "the unique disease principle," the primary aim of MPE is to uncover an interactive relationship between a specific environmental exposure and disease subtypes in determining disease incidence and mortality. This MPE approach can provide etiologic and pathogenic insights, potentially contributing to precision medicine for personalized prevention and treatment. Although breast, prostate, lung, and colorectal cancers have been among the most commonly studied diseases, the MPE approach can be used to study any disease. In addition to molecular features, host immune status and microbiome profile likely affect a disease process, and thus serve as informative biomarkers. As such, further integration of several disciplines into MPE has been achieved (e.g., pharmaco-MPE, immuno-MPE, and microbial MPE), to provide novel insights into underlying etiologic mechanisms. With the advent of high-throughput sequencing technologies, available genomic and epigenomic data have expanded dramatically. The MPE approach can also provide a specific risk estimate for each disease subgroup, thereby enhancing the impact of genome-wide association studies on public health. In this article, we present recent progress of MPE, and discuss the importance of accounting for the disease heterogeneity in the era of big-data health science and precision medicine.

  12. Molecular Etiology of Hereditary Single-Side Deafness: Its Association With Pigmentary Disorders and Waardenburg Syndrome.

    Science.gov (United States)

    Kim, Shin Hye; Kim, Ah Reum; Choi, Hyun Seok; Kim, Min Young; Chun, Eun Hi; Oh, Seung-Ha; Choi, Byung Yoon

    2015-10-01

    Unilateral sensorineural hearing loss (USNHL)/single-side deafness (SSD) is a frequently encountered disability in children. The etiology of a substantial portion of USNHL/SSD still remains unknown, and genetic causes have not been clearly elucidated. In this study, the authors evaluated the heritability of USNHL/SSD.The authors sequentially recruited 50 unrelated children with SSD. For an etiologic diagnosis, we performed a rigorous review on the phenotypes of family members of all children and conducted, if necessary, molecular genetic tests including targeted exome sequencing of 129 deafness genes.Among the 50 SSD children cohort, the authors identify 4 (8%) unrelated SSD probands from 4 families (SH136, SB173, SB177, and SB199) with another hearing impaired family members. Notably, all 4 probands in our cohort with a familial history of SSD also have pigmentary abnormalities such as brown freckles or premature gray hair within first degree relatives, which may indicate that genes whose products are involved with pigmentary disorder could be candidates for heritable SSD. Indeed, SH136 and SB199 turned out to segregate a mutation in MITF and PAX3, respectively, leading to a molecular diagnosis of Waardenburg syndrome (WS).We report, for the first time in the literature, a significant heritability of pediatric SSD. There is a strong association between the heritability of USNHL/SSD and the pigmentary abnormality, shedding a new light on the understanding of the molecular basis of heritable USNHL/SSD. In case of children with congenital SSD, it would be mandatory to rigorously screen pigmentary abnormalities. WS should also be included in the differential diagnosis of children with USNHL/SSD, especially in a familial form.

  13. An investigation on non-invasive fungal sinusitis; Molecular identification of etiologic agents

    Directory of Open Access Journals (Sweden)

    Abdolrasoul Mohammadi

    2017-01-01

    Full Text Available Background: Fungal sinusitis is increasing worldwide in the past two decades. It is divided into two types including invasive and noninvasive. Noninvasive types contain allergic fungal sinusitis (AFS and fungus ball. AFS is a hypersensitivity reaction to fungal allergens in the mucosa of the sinonasal tract in atopic individuals. The fungus ball is a different type of noninvasive fungal rhinosinusitis which is delineated as an accumulation of debris and fungal elements inside a paranasal sinus. Fungal sinusitis caused by various fungi such as Aspergillus species, Penicillium, Mucor, Rhizopus, and phaeohyphomycetes. The aim of the present study is to identify fungal species isolated from noninvasive fungal sinusitis by molecular methods. Materials and Methods: During 2015–2016, a total of 100 suspected patients were examined for fungal sinusitis. Functional endoscopic sinus surgery was performed using the Messerklinger technique. Clinical samples were identified by phenotypic and molecular methods. Polymerase chain reaction (PCR sequencing of ITS1-5.8S-ITS2 region and PCR-restriction fragment length polymorphism with Msp I restriction enzyme was performed for molecular identification of molds and yeasts, respectively. Results: Twenty-seven out of 100 suspected cases (27% had fungal sinusitis. Nasal congestion (59% and headache (19% were the most common clinical signs among patients. Fifteen patients (55.5% were male and 12 patients (44.5% were female. Aspergillus flavus was the most prevalent fungal species (26%, followed by Penicillium chrysogenum (18.5% and Candida glabrata species complex (15%. Conclusion: Since clinical manifestations, computed tomography scan, endoscopy, and histopathological findings are very nonspecific in AFS and fungus ball; therefore, molecular investigations are compulsory for precise identification of etiologic agents and appropriate management of these fungal infections.

  14. Cellular and molecular etiology of hepatocyte injury in a murine model of environmentally induced liver abnormality

    Directory of Open Access Journals (Sweden)

    M.A. Al-Griw

    2016-09-01

    Full Text Available Exposures to a wide variety of environmental substances are negatively associated with many biological cell systems both in humans and rodents. Trichloroethane (TCE, a ubiquitous environmental toxicant, is used in large quantities as a dissolvent, metal degreaser, chemical intermediate, and component of consumer products. This increases the likelihood of human exposure to these compounds through dermal, inhalation and oral routes. The present in vivo study was aimed to investigate the possible cellular and molecular etiology of liver abnormality induced by early exposure to TCE using a murine model. The results showed a significant increase in liver weight. Histopathological examination revealed a TCE-induced hepatotoxicity which appeared as heavily congested central vein and blood sinusoids as well as leukocytic infiltration. Mitotic figures and apoptotic changes such as chromatin condensation and nuclear fragments were also identified. Cell death analysis demonstrates hepatocellular apoptosis was evident in the treated mice compared to control. TCE was also found to induce oxidative stress as indicated by an increase in the levels of lipid peroxidation, an oxidative stress marker. There was also a significant decrease in the DNA content of the hepatocytes of the treated groups compared to control. Agarose gel electrophoresis also provided further biochemical evidence of apoptosis by showing internucleosomal DNA fragmentation in the liver cells, indicating oxidative stress as the cause of DNA damage. These results suggest the need for a complete risk assessment of any new chemical prior to its arrival into the consumer market.

  15. Association between glioma susceptibility loci and tumour pathology defines specific molecular etiologies.

    Science.gov (United States)

    Di Stefano, Anna Luisa; Enciso-Mora, Victor; Marie, Yannick; Desestret, Virginie; Labussière, Marianne; Boisselier, Blandine; Mokhtari, Karima; Idbaih, Ahmed; Hoang-Xuan, Khe; Delattre, Jean-Yves; Houlston, Richard S; Sanson, Marc

    2013-05-01

    Genome-wide association studies have identified single-nucleotide polymorphisms (SNPs) at 7 loci influencing glioma risk: rs2736100 (TERT), rs11979158 and rs2252586 (EGFR), rs4295627 (CCDC26), rs4977756 (CDKN2A/CDKN2B), rs498872 (PHLDB1), and rs6010620 (RTEL1). We studied the relationship among these 7 glioma-risk SNPs and characteristics of tumors from 1374 patients, including grade, IDH (ie IDH1 or IDH2) mutation, EGFR amplification, CDKN2A-p16-INK4a homozygous deletion, 9p and 10q loss, and 1p-19q codeletion. rs2736100 (TERT) and rs6010620 (RTEL1) risk alleles were associated with high-grade disease, EGFR amplification, CDKN2A-p16-INK4a homozygous deletion, and 9p and 10q deletion; rs4295627 (CCDC26) and rs498872 (PHLDB1) were associated with low-grade disease, IDH mutation, and 1p-19q codeletion. In contrast, rs4977756 (CDKN2A/B), rs11979158 (EGFR), and to a lesser extent, rs2252586 (EGFR) risk alleles were independent of tumor grade and genetic profile. Adjusting for tumor grade showed a significant association between rs2736100 and IDH status (P = .01), 10q loss (P = .02); rs4295627 and 1p-19q codeletion (P = .04), rs498872 and IDH (P = .02), 9p loss (P = .04), and 10q loss (P = .02). Case-control analyses stratified into 4 molecular classes (defined by 1p-19q status, IDH mutation, and EGFR amplification) showed an association of rs4295627 and rs498872 with IDH-mutated gliomas (P RTEL1, CCDC26, and PHLDB1 variants were associated with different genetic profiles that annotate distinct molecular pathways. Our findings provide further insight into the biological basis of glioma etiology.

  16. Comprehensive characterization of molecular interactions based on nanomechanics.

    Directory of Open Access Journals (Sweden)

    Murali Krishna Ghatkesar

    Full Text Available Molecular interaction is a key concept in our understanding of the biological mechanisms of life. Two physical properties change when one molecular partner binds to another. Firstly, the masses combine and secondly, the structure of at least one binding partner is altered, mechanically transducing the binding into subsequent biological reactions. Here we present a nanomechanical micro-array technique for bio-medical research, which not only monitors the binding of effector molecules to their target but also the subsequent effect on a biological system in vitro. This label-free and real-time method directly and simultaneously tracks mass and nanomechanical changes at the sensor interface using micro-cantilever technology. To prove the concept we measured lipid vesicle (approximately 748*10(6 Da adsorption on the sensor interface followed by subsequent binding of the bee venom peptide melittin (2840 Da to the vesicles. The results show the high dynamic range of the instrument and that measuring the mass and structural changes simultaneously allow a comprehensive discussion of molecular interactions.

  17. Comprehensive Molecular Portraits of Invasive Lobular Breast Cancer.

    Science.gov (United States)

    Ciriello, Giovanni; Gatza, Michael L; Beck, Andrew H; Wilkerson, Matthew D; Rhie, Suhn K; Pastore, Alessandro; Zhang, Hailei; McLellan, Michael; Yau, Christina; Kandoth, Cyriac; Bowlby, Reanne; Shen, Hui; Hayat, Sikander; Fieldhouse, Robert; Lester, Susan C; Tse, Gary M K; Factor, Rachel E; Collins, Laura C; Allison, Kimberly H; Chen, Yunn-Yi; Jensen, Kristin; Johnson, Nicole B; Oesterreich, Steffi; Mills, Gordon B; Cherniack, Andrew D; Robertson, Gordon; Benz, Christopher; Sander, Chris; Laird, Peter W; Hoadley, Katherine A; King, Tari A; Perou, Charles M

    2015-10-08

    Invasive lobular carcinoma (ILC) is the second most prevalent histologic subtype of invasive breast cancer. Here, we comprehensively profiled 817 breast tumors, including 127 ILC, 490 ductal (IDC), and 88 mixed IDC/ILC. Besides E-cadherin loss, the best known ILC genetic hallmark, we identified mutations targeting PTEN, TBX3, and FOXA1 as ILC enriched features. PTEN loss associated with increased AKT phosphorylation, which was highest in ILC among all breast cancer subtypes. Spatially clustered FOXA1 mutations correlated with increased FOXA1 expression and activity. Conversely, GATA3 mutations and high expression characterized luminal A IDC, suggesting differential modulation of ER activity in ILC and IDC. Proliferation and immune-related signatures determined three ILC transcriptional subtypes associated with survival differences. Mixed IDC/ILC cases were molecularly classified as ILC-like and IDC-like revealing no true hybrid features. This multidimensional molecular atlas sheds new light on the genetic bases of ILC and provides potential clinical options. Copyright © 2015 Elsevier Inc. All rights reserved.

  18. Comprehensive Molecular Characterization of Papillary Renal-Cell Carcinoma.

    Science.gov (United States)

    Linehan, W Marston; Spellman, Paul T; Ricketts, Christopher J; Creighton, Chad J; Fei, Suzanne S; Davis, Caleb; Wheeler, David A; Murray, Bradley A; Schmidt, Laura; Vocke, Cathy D; Peto, Myron; Al Mamun, Abu Amar M; Shinbrot, Eve; Sethi, Anurag; Brooks, Samira; Rathmell, W Kimryn; Brooks, Angela N; Hoadley, Katherine A; Robertson, A Gordon; Brooks, Denise; Bowlby, Reanne; Sadeghi, Sara; Shen, Hui; Weisenberger, Daniel J; Bootwalla, Moiz; Baylin, Stephen B; Laird, Peter W; Cherniack, Andrew D; Saksena, Gordon; Haake, Scott; Li, Jun; Liang, Han; Lu, Yiling; Mills, Gordon B; Akbani, Rehan; Leiserson, Mark D M; Raphael, Benjamin J; Anur, Pavana; Bottaro, Donald; Albiges, Laurence; Barnabas, Nandita; Choueiri, Toni K; Czerniak, Bogdan; Godwin, Andrew K; Hakimi, A Ari; Ho, Thai H; Hsieh, James; Ittmann, Michael; Kim, William Y; Krishnan, Bhavani; Merino, Maria J; Mills Shaw, Kenna R; Reuter, Victor E; Reznik, Ed; Shelley, Carl S; Shuch, Brian; Signoretti, Sabina; Srinivasan, Ramaprasad; Tamboli, Pheroze; Thomas, George; Tickoo, Satish; Burnett, Kenneth; Crain, Daniel; Gardner, Johanna; Lau, Kevin; Mallery, David; Morris, Scott; Paulauskis, Joseph D; Penny, Robert J; Shelton, Candace; Shelton, W Troy; Sherman, Mark; Thompson, Eric; Yena, Peggy; Avedon, Melissa T; Bowen, Jay; Gastier-Foster, Julie M; Gerken, Mark; Leraas, Kristen M; Lichtenberg, Tara M; Ramirez, Nilsa C; Santos, Tracie; Wise, Lisa; Zmuda, Erik; Demchok, John A; Felau, Ina; Hutter, Carolyn M; Sheth, Margi; Sofia, Heidi J; Tarnuzzer, Roy; Wang, Zhining; Yang, Liming; Zenklusen, Jean C; Zhang, Jiashan; Ayala, Brenda; Baboud, Julien; Chudamani, Sudha; Liu, Jia; Lolla, Laxmi; Naresh, Rashi; Pihl, Todd; Sun, Qiang; Wan, Yunhu; Wu, Ye; Ally, Adrian; Balasundaram, Miruna; Balu, Saianand; Beroukhim, Rameen; Bodenheimer, Tom; Buhay, Christian; Butterfield, Yaron S N; Carlsen, Rebecca; Carter, Scott L; Chao, Hsu; Chuah, Eric; Clarke, Amanda; Covington, Kyle R; Dahdouli, Mahmoud; Dewal, Ninad; Dhalla, Noreen; Doddapaneni, Harsha V; Drummond, Jennifer A; Gabriel, Stacey B; Gibbs, Richard A; Guin, Ranabir; Hale, Walker; Hawes, Alicia; Hayes, D Neil; Holt, Robert A; Hoyle, Alan P; Jefferys, Stuart R; Jones, Steven J M; Jones, Corbin D; Kalra, Divya; Kovar, Christie; Lewis, Lora; Li, Jie; Ma, Yussanne; Marra, Marco A; Mayo, Michael; Meng, Shaowu; Meyerson, Matthew; Mieczkowski, Piotr A; Moore, Richard A; Morton, Donna; Mose, Lisle E; Mungall, Andrew J; Muzny, Donna; Parker, Joel S; Perou, Charles M; Roach, Jeffrey; Schein, Jacqueline E; Schumacher, Steven E; Shi, Yan; Simons, Janae V; Sipahimalani, Payal; Skelly, Tara; Soloway, Matthew G; Sougnez, Carrie; Tam, Angela; Tan, Donghui; Thiessen, Nina; Veluvolu, Umadevi; Wang, Min; Wilkerson, Matthew D; Wong, Tina; Wu, Junyuan; Xi, Liu; Zhou, Jane; Bedford, Jason; Chen, Fengju; Fu, Yao; Gerstein, Mark; Haussler, David; Kasaian, Katayoon; Lai, Phillip; Ling, Shiyun; Radenbaugh, Amie; Van Den Berg, David; Weinstein, John N; Zhu, Jingchun; Albert, Monique; Alexopoulou, Iakovina; Andersen, Jeremiah J; Auman, J Todd; Bartlett, John; Bastacky, Sheldon; Bergsten, Julie; Blute, Michael L; Boice, Lori; Bollag, Roni J; Boyd, Jeff; Castle, Erik; Chen, Ying-Bei; Cheville, John C; Curley, Erin; Davies, Benjamin; DeVolk, April; Dhir, Rajiv; Dike, Laura; Eckman, John; Engel, Jay; Harr, Jodi; Hrebinko, Ronald; Huang, Mei; Huelsenbeck-Dill, Lori; Iacocca, Mary; Jacobs, Bruce; Lobis, Michael; Maranchie, Jodi K; McMeekin, Scott; Myers, Jerome; Nelson, Joel; Parfitt, Jeremy; Parwani, Anil; Petrelli, Nicholas; Rabeno, Brenda; Roy, Somak; Salner, Andrew L; Slaton, Joel; Stanton, Melissa; Thompson, R Houston; Thorne, Leigh; Tucker, Kelinda; Weinberger, Paul M; Winemiller, Cynthia; Zach, Leigh Anne; Zuna, Rosemary

    2016-01-14

    Papillary renal-cell carcinoma, which accounts for 15 to 20% of renal-cell carcinomas, is a heterogeneous disease that consists of various types of renal cancer, including tumors with indolent, multifocal presentation and solitary tumors with an aggressive, highly lethal phenotype. Little is known about the genetic basis of sporadic papillary renal-cell carcinoma, and no effective forms of therapy for advanced disease exist. We performed comprehensive molecular characterization of 161 primary papillary renal-cell carcinomas, using whole-exome sequencing, copy-number analysis, messenger RNA and microRNA sequencing, DNA-methylation analysis, and proteomic analysis. Type 1 and type 2 papillary renal-cell carcinomas were shown to be different types of renal cancer characterized by specific genetic alterations, with type 2 further classified into three individual subgroups on the basis of molecular differences associated with patient survival. Type 1 tumors were associated with MET alterations, whereas type 2 tumors were characterized by CDKN2A silencing, SETD2 mutations, TFE3 fusions, and increased expression of the NRF2-antioxidant response element (ARE) pathway. A CpG island methylator phenotype (CIMP) was observed in a distinct subgroup of type 2 papillary renal-cell carcinomas that was characterized by poor survival and mutation of the gene encoding fumarate hydratase (FH). Type 1 and type 2 papillary renal-cell carcinomas were shown to be clinically and biologically distinct. Alterations in the MET pathway were associated with type 1, and activation of the NRF2-ARE pathway was associated with type 2; CDKN2A loss and CIMP in type 2 conveyed a poor prognosis. Furthermore, type 2 papillary renal-cell carcinoma consisted of at least three subtypes based on molecular and phenotypic features. (Funded by the National Institutes of Health.).

  19. Comprehensive Molecular Characterization of Papillary Renal Cell Carcinoma

    Science.gov (United States)

    Linehan, W. Marston; Spellman, Paul T.; Ricketts, Christopher J.; Creighton, Chad J.; Fei, Suzanne S.; Davis, Caleb; Wheeler, David A.; Murray, Bradley A.; Schmidt, Laura; Vocke, Cathy D.; Peto, Myron; Al Mamun, Abu Amar M.; Shinbrot, Eve; Sethi, Anurag; Brooks, Samira; Rathmell, W. Kimryn; Brooks, Angela N.; Hoadley, Katherine A.; Robertson, A. Gordon; Brooks, Denise; Bowlby, Reanne; Sadeghi, Sara; Shen, Hui; Weisenberger, Daniel J.; Bootwalla, Moiz; Baylin, Stephen B.; Laird, Peter W.; Cherniack, Andrew D.; Saksena, Gordon; Haake, Scott; Li, Jun; Liang, Han; Lu, Yiling; Mills, Gordon B.; Akbani, Rehan; Leiserson, Mark D.M.; Raphael, Benjamin J.; Anur, Pavana; Bottaro, Donald; Albiges, Laurence; Barnabas, Nandita; Choueiri, Toni K.; Czerniak, Bogdan; Godwin, Andrew K.; Hakimi, A. Ari; Ho, Thai; Hsieh, James; Ittmann, Michael; Kim, William Y.; Krishnan, Bhavani; Merino, Maria J.; Mills Shaw, Kenna R.; Reuter, Victor E.; Reznik, Ed; Shelley, Carl Simon; Shuch, Brian; Signoretti, Sabina; Srinivasan, Ramaprasad; Tamboli, Pheroze; Thomas, George; Tickoo, Satish; Burnett, Kenneth; Crain, Daniel; Gardner, Johanna; Lau, Kevin; Mallery, David; Morris, Scott; Paulauskis, Joseph D.; Penny, Robert J.; Shelton, Candace; Shelton, W. Troy; Sherman, Mark; Thompson, Eric; Yena, Peggy; Avedon, Melissa T.; Bowen, Jay; Gastier-Foster, Julie M.; Gerken, Mark; Leraas, Kristen M.; Lichtenberg, Tara M.; Ramirez, Nilsa C.; Santos, Tracie; Wise, Lisa; Zmuda, Erik; Demchok, John A.; Felau, Ina; Hutter, Carolyn M.; Sheth, Margi; Sofia, Heidi J.; Tarnuzzer, Roy; Wang, Zhining; Yang, Liming; Zenklusen, Jean C.; Zhang, Jiashan (Julia); Ayala, Brenda; Baboud, Julien; Chudamani, Sudha; Liu, Jia; Lolla, Laxmi; Naresh, Rashi; Pihl, Todd; Sun, Qiang; Wan, Yunhu; Wu, Ye; Ally, Adrian; Balasundaram, Miruna; Balu, Saianand; Beroukhim, Rameen; Bodenheimer, Tom; Buhay, Christian; Butterfield, Yaron S.N.; Carlsen, Rebecca; Carter, Scott L.; Chao, Hsu; Chuah, Eric; Clarke, Amanda; Covington, Kyle R.; Dahdouli, Mahmoud; Dewal, Ninad; Dhalla, Noreen; Doddapaneni, HarshaVardhan; Drummond, Jennifer; Gabriel, Stacey B.; Gibbs, Richard A.; Guin, Ranabir; Hale, Walker; Hawes, Alicia; Hayes, D. Neil; Holt, Robert A.; Hoyle, Alan P.; Jefferys, Stuart R.; Jones, Steven J.M.; Jones, Corbin D.; Kalra, Divya; Kovar, Christie; Lewis, Lora; Li, Jie; Ma, Yussanne; Marra, Marco A.; Mayo, Michael; Meng, Shaowu; Meyerson, Matthew; Mieczkowski, Piotr A.; Moore, Richard A.; Morton, Donna; Mose, Lisle E.; Mungall, Andrew J.; Muzny, Donna; Parker, Joel S.; Perou, Charles M.; Roach, Jeffrey; Schein, Jacqueline E.; Schumacher, Steven E.; Shi, Yan; Simons, Janae V.; Sipahimalani, Payal; Skelly, Tara; Soloway, Matthew G.; Sougnez, Carrie; Tam, Angela; Tan, Donghui; Thiessen, Nina; Veluvolu, Umadevi; Wang, Min; Wilkerson, Matthew D.; Wong, Tina; Wu, Junyuan; Xi, Liu; Zhou, Jane; Bedford, Jason; Chen, Fengju; Fu, Yao; Gerstein, Mark; Haussler, David; Kasaian, Katayoon; Lai, Phillip; Ling, Shiyun; Radenbaugh, Amie; Van Den Berg, David; Weinstein, John N.; Zhu, Jingchun; Albert, Monique; Alexopoulou, Iakovina; Andersen, Jeremiah J; Auman, J. Todd; Bartlett, John; Bastacky, Sheldon; Bergsten, Julie; Blute, Michael L.; Boice, Lori; Bollag, Roni J.; Boyd, Jeff; Castle, Erik; Chen, Ying-Bei; Cheville, John C.; Curley, Erin; Davies, Benjamin; DeVolk, April; Dhir, Rajiv; Dike, Laura; Eckman, John; Engel, Jay; Harr, Jodi; Hrebinko, Ronald; Huang, Mei; Huelsenbeck-Dill, Lori; Iacocca, Mary; Jacobs, Bruce; Lobis, Michael; Maranchie, Jodi K.; McMeekin, Scott; Myers, Jerome; Nelson, Joel; Parfitt, Jeremy; Parwani, Anil; Petrelli, Nicholas; Rabeno, Brenda; Roy, Somak; Salner, Andrew L.; Slaton, Joel; Stanton, Melissa; Thompson, R. Houston; Thorne, Leigh; Tucker, Kelinda; Weinberger, Paul M.; Winemiller, Cythnia; Zach, Leigh Anne; Zuna, Rosemary

    2016-01-01

    Background Papillary renal cell carcinoma, accounting for 15% of renal cell carcinoma, is a heterogeneous disease consisting of different types of renal cancer, including tumors with indolent, multifocal presentation and solitary tumors with an aggressive, highly lethal phenotype. Little is known about the genetic basis of sporadic papillary renal cell carcinoma; no effective forms of therapy for advanced disease exist. Methods We performed comprehensive molecular characterization utilizing whole-exome sequencing, copy number, mRNA, microRNA, methylation and proteomic analyses of 161 primary papillary renal cell carcinomas. Results Type 1 and Type 2 papillary renal cell carcinomas were found to be different types of renal cancer characterized by specific genetic alterations, with Type 2 further classified into three individual subgroups based on molecular differences that influenced patient survival. MET alterations were associated with Type 1 tumors, whereas Type 2 tumors were characterized by CDKN2A silencing, SETD2 mutations, TFE3 fusions, and increased expression of the NRF2-ARE pathway. A CpG island methylator phenotype (CIMP) was found in a distinct subset of Type 2 papillary renal cell carcinoma characterized by poor survival and mutation of the fumarate hydratase (FH) gene. Conclusions Type 1 and Type 2 papillary renal cell carcinomas are clinically and biologically distinct. Alterations in the MET pathway are associated with Type 1 and activation of the NRF2-ARE pathway with Type 2; CDKN2A loss and CIMP in Type 2 convey a poor prognosis. Furthermore, Type 2 papillary renal cell carcinoma consists of at least 3 subtypes based upon molecular and phenotypic features. PMID:26536169

  20. The cellular and molecular etiology of the craniofacial defects in the avian ciliopathic mutant talpid2

    Science.gov (United States)

    talpid2 is an avian autosomal recessive mutant with a myriad of congenital malformations, including polydactyly and facial clefting. Although phenotypically similar to talpid3, talpid2 has a distinct facial phenotype and an unknown cellular, molecular and genetic basis. We set out to determine the e...

  1. [Investigation of bacterial and viral etiology in community acquired central nervous system infections with molecular methods].

    Science.gov (United States)

    Kahraman, Hasip; Tünger, Alper; Şenol, Şebnem; Gazi, Hörü; Avcı, Meltem; Örmen, Bahar; Türker, Nesrin; Atalay, Sabri; Köse, Şükran; Ulusoy, Sercan; Işıkgöz Taşbakan, Meltem; Sipahi, Oğuz Reşat; Yamazhan, Tansu; Gülay, Zeynep; Alp Çavuş, Sema; Pullukçu, Hüsnü

    2017-07-01

    In this multicenter prospective cohort study, it was aimed to evaluate the bacterial and viral etiology in community-acquired central nervous system infections by standart bacteriological culture and multiplex polymerase chain reaction (PCR) methods. Patients hospitalized with central nervous system infections between April 2012 and February 2014 were enrolled in the study. Demographic and clinical information of the patients were collected prospectively. Cerebrospinal fluid (CSF) samples of the patients were examined by standart bacteriological culture methods, bacterial multiplex PCR (Seeplex meningitis-B ACE Detection (Streptococcus pneumoniae, Neisseria meningitidis, Haemophilus influenzae, Listeria monocytogenes, Group B streptococci) and viral multiplex PCR (Seeplex meningitis-V1 ACE Detection kits herpes simplex virus-1 (HSV1), herpes simplex virus-2 (HSV2), varicella zoster virus (VZV), cytomegalovirus (CMV), Epstein Barr virus (EBV) and human herpes virus 6 (HHV6)) (Seeplex meningitis-V2 ACE Detection kit (enteroviruses)). Patients were classified as purulent meningitis, aseptic meningitis and encephalitis according to their clinical, CSF (leukocyte level, predominant cell type, protein and glucose (blood/CSF) levels) and cranial imaging results. Patients who were infected with a pathogen other than the detection of the kit or diagnosed as chronic meningitis and other diseases during the follow up, were excluded from the study. A total of 79 patients (28 female, 51 male, aged 42.1 ± 18.5) fulfilled the study inclusion criteria. A total of 46 patients were classified in purulent meningitis group whereas 33 were in aseptic meningitis/encephalitis group. Pathogens were detected by multiplex PCR in 41 patients. CSF cultures were positive in 10 (21.7%) patients (nine S.pneumoniae, one H.influenzae) and PCR were positive for 27 (58.6%) patients in purulent meningitis group. In this group one type of bacteria were detected in 18 patients (14 S.pneumoniae, two N

  2. Molecular underpinnings of prefrontal cortex development in rodents provide insights into the etiology of neurodevelopmental disorders.

    Science.gov (United States)

    Schubert, D; Martens, G J M; Kolk, S M

    2015-07-01

    The prefrontal cortex (PFC), seat of the highest-order cognitive functions, constitutes a conglomerate of highly specialized brain areas and has been implicated to have a role in the onset and installation of various neurodevelopmental disorders. The development of a properly functioning PFC is directed by transcription factors, guidance cues and other regulatory molecules and requires the intricate and temporal orchestration of a number of developmental processes. Disturbance or failure of any of these processes causing neurodevelopmental abnormalities within the PFC may contribute to several of the cognitive deficits seen in patients with neurodevelopmental disorders. In this review, we elaborate on the specific processes underlying prefrontal development, such as induction and patterning of the prefrontal area, proliferation, migration and axonal guidance of medial prefrontal progenitors, and their eventual efferent and afferent connections. We furthermore integrate for the first time the available knowledge from genome-wide studies that have revealed genes linked to neurodevelopmental disorders with experimental molecular evidence in rodents. The integrated data suggest that the pathogenic variants in the neurodevelopmental disorder-associated genes induce prefrontal cytoarchitectonical impairments. This enhances our understanding of the molecular mechanisms of prefrontal (mis)development underlying the four major neurodevelopmental disorders in humans, that is, intellectual disability, autism spectrum disorders, attention deficit hyperactivity disorder and schizophrenia, and may thus provide clues for the development of novel therapies.

  3. Molecular etiology and genotype-phenotype correlation of Chinese Han deaf patients with type I and type II Waardenburg Syndrome.

    Science.gov (United States)

    Sun, Lianhua; Li, Xiaohua; Shi, Jun; Pang, Xiuhong; Hu, Yechen; Wang, Xiaowen; Wu, Hao; Yang, Tao

    2016-10-19

    Waardenburg syndrome (WS) characterized by sensorineural hearing loss and pigmentary abnormalities is genetically heterogeneous and phenotypically variable. This study investigated the molecular etiology and genotype-phenotype correlation of WS in 36 Chinese Han deaf probands and 16 additional family members that were clinically diagnosed with WS type I (WS1, n = 8) and type II (WS2, n = 42). Mutation screening of six WS-associated genes detected PAX3 mutations in 6 (86%) of the 7 WS1 probands. Among the 29 WS2 probands, 13 (45%) and 10 (34%) were identified with SOX10 and MITF mutations, respectively. Nineteen of the 26 detected mutations were novel. In WS2 probands whose parental DNA samples were available, de novo mutations were frequently seen for SOX10 mutations (7/8) but not for MITF mutations (0/5, P = 0.005). Excessive freckle, a common feature of WS2 in Chinese Hans, was frequent in WS2 probands with MITF mutations (7/10) but not in those with SOX10 mutations (0/13, P = 4.9 × 10 -4 ). Our results showed that mutations in SOX10 and MITF are two major causes for deafness associated with WS2. These two subtypes of WS2 can be distinguished by the high de novo rate of the SOX10 mutations and the excessive freckle phenotype exclusively associated with the MITF mutations.

  4. Environmentally induced epigenetic transgenerational inheritance of altered Sertoli cell transcriptome and epigenome: molecular etiology of male infertility.

    Directory of Open Access Journals (Sweden)

    Carlos Guerrero-Bosagna

    Full Text Available Environmental toxicants have been shown to induce the epigenetic transgenerational inheritance of adult onset disease, including testis disease and male infertility. The current study was designed to determine the impact of an altered sperm epigenome on the subsequent development of an adult somatic cell (Sertoli cell that influences the onset of a specific disease (male infertility. A gestating female rat (F0 generation was exposed to the agriculture fungicide vinclozolin during gonadal sex determination and then the subsequent F3 generation progeny used for the isolation of Sertoli cells and assessment of testis disease. As previously observed, enhanced spermatogenic cell apoptosis was observed. The Sertoli cells provide the physical and nutritional support for the spermatogenic cells. Over 400 genes were differentially expressed in the F3 generation control versus vinclozolin lineage Sertoli cells. A number of specific cellular pathways were identified to be transgenerationally altered. One of the key metabolic processes affected was pyruvate/lactate production that is directly linked to spermatogenic cell viability. The Sertoli cell epigenome was also altered with over 100 promoter differential DNA methylation regions (DMR modified. The genomic features and overlap with the sperm DMR were investigated. Observations demonstrate that the transgenerational sperm epigenetic alterations subsequently alters the development of a specific somatic cell (Sertoli cell epigenome and transcriptome that correlates with adult onset disease (male infertility. The environmentally induced epigenetic transgenerational inheritance of testis disease appears to be a component of the molecular etiology of male infertility.

  5. Comprehensive investigation of CASK mutations and other genetic etiologies in 41 patients with intellectual disability and microcephaly with pontine and cerebellar hypoplasia (MICPCH.

    Directory of Open Access Journals (Sweden)

    Shin Hayashi

    Full Text Available The CASK gene (Xp11.4 is highly expressed in the mammalian nervous system and plays several roles in neural development and synaptic function. Loss-of-function mutations of CASK are associated with intellectual disability and microcephaly with pontine and cerebellar hypoplasia (MICPCH, especially in females. Here, we present a comprehensive investigation of 41 MICPCH patients, analyzed by mutational search of CASK and screening of candidate genes using an SNP array, targeted resequencing and whole-exome sequencing (WES. In total, we identified causative or candidate genomic aberrations in 37 of the 41 cases (90.2%. CASK aberrations including a rare mosaic mutation in a male patient, were found in 32 cases, and a mutation in ITPR1, another known gene in which mutations are causative for MICPCH, was found in one case. We also found aberrations involving genes other than CASK, such as HDAC2, MARCKS, and possibly HS3ST5, which may be associated with MICPCH. Moreover, the targeted resequencing screening detected heterozygous variants in RELN in two cases, of uncertain pathogenicity, and WES analysis suggested that concurrent mutations of both DYNC1H1 and DCTN1 in one case could lead to MICPCH. Our results not only identified the etiology of MICPCH in nearly all the investigated patients but also suggest that MICPCH is a genetically heterogeneous condition, in which CASK inactivating mutations appear to account for the majority of cases.

  6. Molecular Etiology of Hearing Impairment in Inner Mongolia: mutations in SLC26A4 gene and relevant phenotype analysis

    Directory of Open Access Journals (Sweden)

    Wu Bailin

    2008-11-01

    Full Text Available Abstract Background The molecular etiology of hearing impairment in Chinese has not been thoroughly investigated. Study of GJB2 gene revealed that 30.4% of the patients with hearing loss in Inner Mongolia carried GJB2 mutations. The SLC26A4 gene mutations and relevant phenotype are analyzed in this study. Methods One hundred and thirty-five deaf patients were included. The coding exons of SLC26A4 gene were sequence analyzed in 111 patients, not including 22 patients carrying bi-allelic GJB2 mutations or one patient carrying a known GJB2 dominant mutation as well as one patient with mtDNA 1555A>G mutation. All patients with SLC26A4 mutations or variants were subjected to high resolution temporal bone CT scan and those with confirmed enlarged vestibular aqueduct and/or other inner ear malformation were then given further ultrasound scan of thyroid and thyroid hormone assays. Results Twenty-six patients (19.26%, 26/135 were found carrying SLC26A4 mutation. Among them, 17 patients with bi-allelic SLC26A4 mutations were all confirmed to have EVA or other inner ear malformation by CT scan. Nine patients were heterozygous for one SLC26A4 mutation, including 3 confirmed to be EVA or EVA and Mondini dysplasia by CT scan. The most common mutation, IVS7-2A>G, accounted for 58.14% (25/43 of all SLC26A4 mutant alleles. The shape and function of thyroid were confirmed to be normal by thyroid ultrasound scan and thyroid hormone assays in 19 of the 20 patients with EVA or other inner ear malformation except one who had cystoid change in the right side of thyroid. No Pendred syndrome was diagnosed. Conclusion In Inner Mongolia, China, mutations in SLC26A4 gene account for about 12.6% (17/135 of the patients with hearing loss. Together with GJB2 (23/135, SLC26A4 are the two most commonly mutated genes causing deafness in this region. Pendred syndrome is not detected in this deaf population. We established a new strategy that detects SLC26A4 mutations prior to the

  7. Molecular Etiology of Hearing Impairment in Inner Mongolia: mutations in SLC26A4 gene and relevant phenotype analysis

    Science.gov (United States)

    Dai, Pu; Yuan, Yongyi; Huang, Deliang; Zhu, Xiuhui; Yu, Fei; Kang, Dongyang; Yuan, Huijun; Wu, Bailin; Han, Dongyi; Wong, Lee-Jun C

    2008-01-01

    Background The molecular etiology of hearing impairment in Chinese has not been thoroughly investigated. Study of GJB2 gene revealed that 30.4% of the patients with hearing loss in Inner Mongolia carried GJB2 mutations. The SLC26A4 gene mutations and relevant phenotype are analyzed in this study. Methods One hundred and thirty-five deaf patients were included. The coding exons of SLC26A4 gene were sequence analyzed in 111 patients, not including 22 patients carrying bi-allelic GJB2 mutations or one patient carrying a known GJB2 dominant mutation as well as one patient with mtDNA 1555A>G mutation. All patients with SLC26A4 mutations or variants were subjected to high resolution temporal bone CT scan and those with confirmed enlarged vestibular aqueduct and/or other inner ear malformation were then given further ultrasound scan of thyroid and thyroid hormone assays. Results Twenty-six patients (19.26%, 26/135) were found carrying SLC26A4 mutation. Among them, 17 patients with bi-allelic SLC26A4 mutations were all confirmed to have EVA or other inner ear malformation by CT scan. Nine patients were heterozygous for one SLC26A4 mutation, including 3 confirmed to be EVA or EVA and Mondini dysplasia by CT scan. The most common mutation, IVS7-2A>G, accounted for 58.14% (25/43) of all SLC26A4 mutant alleles. The shape and function of thyroid were confirmed to be normal by thyroid ultrasound scan and thyroid hormone assays in 19 of the 20 patients with EVA or other inner ear malformation except one who had cystoid change in the right side of thyroid. No Pendred syndrome was diagnosed. Conclusion In Inner Mongolia, China, mutations in SLC26A4 gene account for about 12.6% (17/135) of the patients with hearing loss. Together with GJB2 (23/135), SLC26A4 are the two most commonly mutated genes causing deafness in this region. Pendred syndrome is not detected in this deaf population. We established a new strategy that detects SLC26A4 mutations prior to the temporal bone CT scan to

  8. Comprehensive Molecular Characterization of Muscle-Invasive Bladder Cancer.

    Science.gov (United States)

    Robertson, A Gordon; Kim, Jaegil; Al-Ahmadie, Hikmat; Bellmunt, Joaquim; Guo, Guangwu; Cherniack, Andrew D; Hinoue, Toshinori; Laird, Peter W; Hoadley, Katherine A; Akbani, Rehan; Castro, Mauro A A; Gibb, Ewan A; Kanchi, Rupa S; Gordenin, Dmitry A; Shukla, Sachet A; Sanchez-Vega, Francisco; Hansel, Donna E; Czerniak, Bogdan A; Reuter, Victor E; Su, Xiaoping; de Sa Carvalho, Benilton; Chagas, Vinicius S; Mungall, Karen L; Sadeghi, Sara; Pedamallu, Chandra Sekhar; Lu, Yiling; Klimczak, Leszek J; Zhang, Jiexin; Choo, Caleb; Ojesina, Akinyemi I; Bullman, Susan; Leraas, Kristen M; Lichtenberg, Tara M; Wu, Catherine J; Schultz, Nicholaus; Getz, Gad; Meyerson, Matthew; Mills, Gordon B; McConkey, David J; Weinstein, John N; Kwiatkowski, David J; Lerner, Seth P

    2017-10-19

    We report a comprehensive analysis of 412 muscle-invasive bladder cancers characterized by multiple TCGA analytical platforms. Fifty-eight genes were significantly mutated, and the overall mutational load was associated with APOBEC-signature mutagenesis. Clustering by mutation signature identified a high-mutation subset with 75% 5-year survival. mRNA expression clustering refined prior clustering analyses and identified a poor-survival "neuronal" subtype in which the majority of tumors lacked small cell or neuroendocrine histology. Clustering by mRNA, long non-coding RNA (lncRNA), and miRNA expression converged to identify subsets with differential epithelial-mesenchymal transition status, carcinoma in situ scores, histologic features, and survival. Our analyses identified 5 expression subtypes that may stratify response to different treatments. Copyright © 2017 Elsevier Inc. All rights reserved.

  9. Comprehensive Molecular Screening in Chinese Usher Syndrome Patients.

    Science.gov (United States)

    Sun, Tengyang; Xu, Ke; Ren, Yanfan; Xie, Yue; Zhang, Xiaohui; Tian, Lu; Li, Yang

    2018-03-01

    Usher syndrome (USH) refers to a group of autosomal recessive disorders causing deafness and blindness. The objectives of this study were to determine the mutation spectrum in a cohort of Chinese patients with USH and to describe the clinical features of the patients with mutations. A total of 119 probands who were clinically diagnosed with USH were recruited for genetic analysis. All probands underwent ophthalmic examinations. A combination of molecular screening methods, including targeted next-generation sequencing, Sanger-DNA sequencing, and multiplex ligation probe amplification assay, was used to detect mutations. We found biallelic mutations in 92 probands (77.3%), monoallelic mutations in 5 patients (4.2%), and 1 hemizygous mutation in 1 patient (0.8%), resulting in an overall mutation detection rate of 78.2%. Overall, 132 distinct disease-causing mutations involving seven USH (ABHD12, CDH23, GPR98, MYO7A, PCDH15, USH1C, and USH2A) genes; 5 other retinal degeneration genes (CHM, CNGA1, EYS, PDE6B, and TULP1); and 1 nonsyndromic hearing loss gene (MYO15A) were identified, and 78 were novel. Mutations of MYOA7 were responsible for 60% of USH1 families, followed by PCDH15 (20%) and USH1C (10%). Mutations of USH2A accounted for 67.7% of USH2 families, and mutation c.8559-2A>G was the most frequent one, accounting for 19.1% of the identified USH2A alleles. Our results confirm that the mutation spectrum for each USH gene in Chinese patients differs from those of other populations. The formation of the mutation profile for the Chinese population will enable a precise genetic diagnosis for USH patients in the future.

  10. A comprehensive study into the molecular methodology and molecular biology of methanogenic Archaea

    DEFF Research Database (Denmark)

    Lange, M.; Ahring, Birgitte Kiær

    2001-01-01

    Methanogens belong to the kingdom of Euryarchaeota in the domain of Archaea. The Archaea differ from Bacteria in many aspects important to molecular work. Among these are cell wall composition, their sensitivity to antibiotics, their translation and transcription machinery, and their very strict ...... procedures. Efficient genetic manipulation systems, including shuttle and integration vector systems, have appeared for mesophilic, but not for thermophilic species within the last few years and will have a major impact on future investigations of methanogenic molecular biology....

  11. Molecular fingerprinting of the myxozoan community in common carp suffering Swim Bladder Inflammation (SBI) identifies multiple etiological agents

    Czech Academy of Sciences Publication Activity Database

    Holzer, Astrid S.; Hartigan, Ashlie; Patra, Sneha; Pecková, Hana; Eszterbauer, E.

    2014-01-01

    Roč. 7, AUG 28 2014 (2014), s. 398 ISSN 1756-3305 R&D Projects: GA AV ČR(CZ) M200961205; GA ČR GBP505/12/G112 Institutional support: RVO:60077344 Keywords : Cyprinus carpio carpio * swim bladder inflammation * fish disease * Myxozoa * molecular diagnostic * rDNA * in situ hybridisation Subject RIV: GJ - Animal Vermins ; Diseases, Veterinary Medicine Impact factor: 3.430, year: 2014

  12. Personalized comprehensive molecular profiling of high risk osteosarcoma: Implications and limitations for precision medicine.

    Science.gov (United States)

    Subbiah, Vivek; Wagner, Michael J; McGuire, Mary F; Sarwari, Nawid M; Devarajan, Eswaran; Lewis, Valerae O; Westin, Shanon; Kato, Shumei; Brown, Robert E; Anderson, Pete

    2015-12-01

    Despite advances in molecular medicine over recent decades, there has been little advancement in the treatment of osteosarcoma. We performed comprehensive molecular profiling in two cases of metastatic and chemotherapy-refractory osteosarcoma to guide molecularly targeted therapy. Hybridization capture of >300 cancer-related genes plus introns from 28 genes often rearranged or altered in cancer was applied to >50 ng of DNA extracted from tumor samples from two patients with recurrent, metastatic osteosarcoma. The DNA from each sample was sequenced to high, uniform coverage. Immunohistochemical probes and morphoproteomics analysis were performed, in addition to fluorescence in situ hybridization. All analyses were performed in CLIA-certified laboratories. Molecularly targeted therapy based on the resulting profiles was offered to the patients. Biomedical analytics were performed using QIAGEN's Ingenuity® Pathway Analysis. In Patient #1, comprehensive next-generation exome sequencing showed MET amplification, PIK3CA mutation, CCNE1 amplification, and PTPRD mutation. Immunohistochemistry-based morphoproteomic analysis revealed c-Met expression [(p)-c-Met (Tyr1234/1235)] and activation of mTOR/AKT pathway [IGF-1R (Tyr1165/1166), p-mTOR [Ser2448], p-Akt (Ser473)] and expression of SPARC and COX2. Targeted therapy was administered to match the P1K3CA, c-MET, and SPARC and COX2 aberrations with sirolimus+ crizotinib and abraxane+ celecoxib. In Patient #2, aberrations included NF2 loss in exons 2-16, PDGFRα amplification, and TP53 mutation. This patient was enrolled on a clinical trial combining targeted agents temsirolimus, sorafenib and bevacizumab, to match NF2, PDGFRα and TP53 aberrations. Both the patients did not benefit from matched therapy. Relapsed osteosarcoma is characterized by complex signaling and drug resistance pathways. Comprehensive molecular profiling holds great promise for tailoring personalized therapies for cancer. Methods for such profiling are

  13. Design of a Comprehensive Biochemistry and Molecular Biology Experiment: Phase Variation Caused by Recombinational Regulation of Bacterial Gene Expression

    Science.gov (United States)

    Sheng, Xiumei; Xu, Shungao; Lu, Renyun; Isaac, Dadzie; Zhang, Xueyi; Zhang, Haifang; Wang, Huifang; Qiao, Zheng; Huang, Xinxiang

    2014-01-01

    Scientific experiments are indispensable parts of Biochemistry and Molecular Biology. In this study, a comprehensive Biochemistry and Molecular Biology experiment about "Salmonella enterica" serovar Typhi Flagellar phase variation has been designed. It consisted of three parts, namely, inducement of bacterial Flagellar phase variation,…

  14. A comprehensive study of extended tetrathiafulvalene cruciform molecules for molecular electronics: synthesis and electrical transport measurements.

    Science.gov (United States)

    Parker, Christian R; Leary, Edmund; Frisenda, Riccardo; Wei, Zhongming; Jennum, Karsten S; Glibstrup, Emil; Abrahamsen, Peter Bæch; Santella, Marco; Christensen, Mikkel A; Della Pia, Eduardo Antonio; Li, Tao; Gonzalez, Maria Teresa; Jiang, Xingbin; Morsing, Thorbjørn J; Rubio-Bollinger, Gabino; Laursen, Bo W; Nørgaard, Kasper; van der Zant, Herre; Agrait, Nicolas; Nielsen, Mogens Brøndsted

    2014-11-26

    Cruciform-like molecules with two orthogonally placed π-conjugated systems have in recent years attracted significant interest for their potential use as molecular wires in molecular electronics. Here we present synthetic protocols for a large selection of cruciform molecules based on oligo(phenyleneethynylene) (OPE) and tetrathiafulvalene (TTF) scaffolds, end-capped with acetyl-protected thiolates as electrode anchoring groups. The molecules were subjected to a comprehensive study of their conducting properties as well as their photophysical and electrochemical properties in solution. The complex nature of the molecules and their possible binding in different configurations in junctions called for different techniques of conductance measurements: (1) conducting-probe atomic force microscopy (CP-AFM) measurements on self-assembled monolayers (SAMs), (2) mechanically controlled break-junction (MCBJ) measurements, and (3) scanning tunneling microscopy break-junction (STM-BJ) measurements. The CP-AFM measurements showed structure-property relationships from SAMs of series of OPE3 and OPE5 cruciform molecules; the conductance of the SAM increased with the number of dithiafulvene (DTF) units (0, 1, 2) along the wire, and it increased when substituting two arylethynyl end groups of the OPE3 backbone with two DTF units. The MCBJ and STM-BJ studies on single molecules both showed that DTFs decreased the junction formation probability, but, in contrast, no significant influence on the single-molecule conductance was observed. We suggest that the origins of the difference between SAM and single-molecule measurements lie in the nature of the molecule-electrode interface as well as in effects arising from molecular packing in the SAMs. This comprehensive study shows that for complex molecules care should be taken when directly comparing single-molecule measurements and measurements of SAMs and solid-state devices thereof.

  15. Comprehensive profiling of DNA methylation in colorectal cancer reveals subgroups with distinct clinicopathological and molecular features

    International Nuclear Information System (INIS)

    Ang, Pei Woon; Soong, Richie; Loh, Marie; Liem, Natalia; Lim, Pei Li; Grieu, Fabienne; Vaithilingam, Aparna; Platell, Cameron; Yong, Wei Peng; Iacopetta, Barry

    2010-01-01

    Most previous studies of the CpG island methylator phenotype (CIMP) in colorectal cancer (CRC) have been conducted on a relatively small numbers of CpG sites. In the present study we performed comprehensive DNA methylation profiling of CRC with the aim of characterizing CIMP subgroups. DNA methylation at 1,505 CpG sites in 807 cancer-related genes was evaluated using the Illumina GoldenGate ® methylation array in 28 normal colonic mucosa and 91 consecutive CRC samples. Methylation data was analyzed using unsupervised hierarchical clustering. CIMP subgroups were compared for various clinicopathological and molecular features including patient age, tumor site, microsatellite instability (MSI), methylation at a consensus panel of CpG islands and mutations in BRAF and KRAS. A total of 202 CpG sites were differentially methylated between tumor and normal tissue. Unsupervised hierarchical clustering of methylation data from these sites revealed the existence of three CRC subgroups referred to as CIMP-low (CIMP-L, 21% of cases), CIMP-mid (CIMP-M, 14%) and CIMP-high (CIMP-H, 65%). In comparison to CIMP-L tumors, CIMP-H tumors were more often located in the proximal colon and showed more frequent mutation of KRAS and BRAF (P < 0.001). Comprehensive DNA methylation profiling identified three CRC subgroups with distinctive clinicopathological and molecular features. This study suggests that both KRAS and BRAF mutations are involved with the CIMP-H pathway of CRC rather than with distinct CIMP subgroups

  16. Comprehensive profiling of DNA methylation in colorectal cancer reveals subgroups with distinct clinicopathological and molecular features

    Directory of Open Access Journals (Sweden)

    Vaithilingam Aparna

    2010-05-01

    Full Text Available Abstract Background Most previous studies of the CpG island methylator phenotype (CIMP in colorectal cancer (CRC have been conducted on a relatively small numbers of CpG sites. In the present study we performed comprehensive DNA methylation profiling of CRC with the aim of characterizing CIMP subgroups. Methods DNA methylation at 1,505 CpG sites in 807 cancer-related genes was evaluated using the Illumina GoldenGate® methylation array in 28 normal colonic mucosa and 91 consecutive CRC samples. Methylation data was analyzed using unsupervised hierarchical clustering. CIMP subgroups were compared for various clinicopathological and molecular features including patient age, tumor site, microsatellite instability (MSI, methylation at a consensus panel of CpG islands and mutations in BRAF and KRAS. Results A total of 202 CpG sites were differentially methylated between tumor and normal tissue. Unsupervised hierarchical clustering of methylation data from these sites revealed the existence of three CRC subgroups referred to as CIMP-low (CIMP-L, 21% of cases, CIMP-mid (CIMP-M, 14% and CIMP-high (CIMP-H, 65%. In comparison to CIMP-L tumors, CIMP-H tumors were more often located in the proximal colon and showed more frequent mutation of KRAS and BRAF (P Conclusions Comprehensive DNA methylation profiling identified three CRC subgroups with distinctive clinicopathological and molecular features. This study suggests that both KRAS and BRAF mutations are involved with the CIMP-H pathway of CRC rather than with distinct CIMP subgroups.

  17. Comprehensive molecular sampling yields a robust phylogeny for geometrid moths (Lepidoptera: Geometridae.

    Directory of Open Access Journals (Sweden)

    Pasi Sihvonen

    Full Text Available BACKGROUND: The moth family Geometridae (inchworms or loopers, with approximately 23,000 described species, is the second most diverse family of the Lepidoptera. Apart from a few recent attempts based on morphology and molecular studies, the phylogeny of these moths has remained largely uninvestigated. METHODOLOGY/PRINCIPAL FINDINGS: We performed a rigorous and extensive molecular analysis of eight genes to examine the geometrid affinities in a global context, including a search for its potential sister-taxa. Our maximum likelihood analyses included 164 taxa distributed worldwide, of which 150 belong to the Geometridae. The selected taxa represent all previously recognized subfamilies and nearly 90% of recognized tribes, and originate from all over world. We found the Geometridae to be monophyletic with the Sematuridae+Epicopeiidae clade potentially being its sister-taxon. We found all previously recognized subfamilies to be monophyletic, with a few taxa misplaced, except the Oenochrominae+Desmobathrinae complex that is a polyphyletic assemblage of taxa and the Orthostixinae, which was positioned within the Ennominae. The Sterrhinae and Larentiinae were found to be sister to the remaining taxa, followed by Archiearinae, the polyphyletic assemblage of Oenochrominae+Desmobathrinae moths, Geometrinae and Ennominae. CONCLUSIONS/SIGNIFICANCE: Our study provides the first comprehensive phylogeny of the Geometridae in a global context. Our results generally agree with the other, more restricted studies, suggesting that the general phylogenetic patterns of the Geometridae are now well-established. Generally the subfamilies, many tribes, and assemblages of tribes were well supported but their interrelationships were often weakly supported by our data. The Eumeleini were particularly difficult to place in the current system, and several tribes were found to be para- or polyphyletic.

  18. RNA Structural Dynamics As Captured by Molecular Simulations: A Comprehensive Overview

    Science.gov (United States)

    2018-01-01

    With both catalytic and genetic functions, ribonucleic acid (RNA) is perhaps the most pluripotent chemical species in molecular biology, and its functions are intimately linked to its structure and dynamics. Computer simulations, and in particular atomistic molecular dynamics (MD), allow structural dynamics of biomolecular systems to be investigated with unprecedented temporal and spatial resolution. We here provide a comprehensive overview of the fast-developing field of MD simulations of RNA molecules. We begin with an in-depth, evaluatory coverage of the most fundamental methodological challenges that set the basis for the future development of the field, in particular, the current developments and inherent physical limitations of the atomistic force fields and the recent advances in a broad spectrum of enhanced sampling methods. We also survey the closely related field of coarse-grained modeling of RNA systems. After dealing with the methodological aspects, we provide an exhaustive overview of the available RNA simulation literature, ranging from studies of the smallest RNA oligonucleotides to investigations of the entire ribosome. Our review encompasses tetranucleotides, tetraloops, a number of small RNA motifs, A-helix RNA, kissing-loop complexes, the TAR RNA element, the decoding center and other important regions of the ribosome, as well as assorted others systems. Extended sections are devoted to RNA–ion interactions, ribozymes, riboswitches, and protein/RNA complexes. Our overview is written for as broad of an audience as possible, aiming to provide a much-needed interdisciplinary bridge between computation and experiment, together with a perspective on the future of the field. PMID:29297679

  19. Molecular phenology in plants: in natura systems biology for the comprehensive understanding of seasonal responses under natural environments.

    Science.gov (United States)

    Kudoh, Hiroshi

    2016-04-01

    Phenology refers to the study of seasonal schedules of organisms. Molecular phenology is defined here as the study of the seasonal patterns of organisms captured by molecular biology techniques. The history of molecular phenology is reviewed briefly in relation to advances in the quantification technology of gene expression. High-resolution molecular phenology (HMP) data have enabled us to study phenology with an approach of in natura systems biology. I review recent analyses of FLOWERING LOCUS C (FLC), a temperature-responsive repressor of flowering, along the six steps in the typical flow of in natura systems biology. The extensive studies of the regulation of FLC have made this example a successful case in which a comprehensive understanding of gene functions has been progressing. The FLC-mediated long-term memory of past temperatures creates time lags with other seasonal signals, such as photoperiod and short-term temperature. Major signals that control flowering time have a phase lag between them under natural conditions, and hypothetical phase lag calendars are proposed as mechanisms of season detection in plants. Transcriptomic HMP brings a novel strategy to the study of molecular phenology, because it provides a comprehensive representation of plant functions. I discuss future perspectives of molecular phenology from the standpoints of molecular biology, evolutionary biology and ecology. © 2015 The Author. New Phytologist © 2015 New Phytologist Trust.

  20. Comprehensive molecular diagnosis of Epstein-Barr virus-associated lymphoproliferative diseases using next-generation sequencing.

    Science.gov (United States)

    Ono, Shintaro; Nakayama, Manabu; Kanegane, Hirokazu; Hoshino, Akihiro; Shimodera, Saeko; Shibata, Hirofumi; Fujino, Hisanori; Fujino, Takahiro; Yunomae, Yuta; Okano, Tsubasa; Yamashita, Motoi; Yasumi, Takahiro; Izawa, Kazushi; Takagi, Masatoshi; Imai, Kohsuke; Zhang, Kejian; Marsh, Rebecca; Picard, Capucine; Latour, Sylvain; Ohara, Osamu; Morio, Tomohiro

    2018-05-18

    Epstein-Barr virus (EBV) is associated with several life-threatening diseases, such as lymphoproliferative disease (LPD), particularly in immunocompromised hosts. Some categories of primary immunodeficiency diseases (PIDs) including X-linked lymphoproliferative syndrome (XLP), are characterized by susceptibility and vulnerability to EBV infection. The number of genetically defined PIDs is rapidly increasing, and clinical genetic testing plays an important role in establishing a definitive diagnosis. Whole-exome sequencing is performed for diagnosing rare genetic diseases, but is both expensive and time-consuming. Low-cost, high-throughput gene analysis systems are thus necessary. We developed a comprehensive molecular diagnostic method using a two-step tailed polymerase chain reaction (PCR) and a next-generation sequencing (NGS) platform to detect mutations in 23 candidate genes responsible for XLP or XLP-like diseases. Samples from 19 patients suspected of having EBV-associated LPD were used in this comprehensive molecular diagnosis. Causative gene mutations (involving PRF1 and SH2D1A) were detected in two of the 19 patients studied. This comprehensive diagnosis method effectively detected mutations in all coding exons of 23 genes with sufficient read numbers for each amplicon. This comprehensive molecular diagnostic method using PCR and NGS provides a rapid, accurate, low-cost diagnosis for patients with XLP or XLP-like diseases.

  1. A comprehensive experiment for molecular biology: Determination of single nucleotide polymorphism in human REV3 gene using PCR-RFLP.

    Science.gov (United States)

    Zhang, Xu; Shao, Meng; Gao, Lu; Zhao, Yuanyuan; Sun, Zixuan; Zhou, Liping; Yan, Yongmin; Shao, Qixiang; Xu, Wenrong; Qian, Hui

    2017-07-08

    Laboratory exercise is helpful for medical students to understand the basic principles of molecular biology and to learn about the practical applications of molecular biology. We have designed a lab course on molecular biology about the determination of single nucleotide polymorphism (SNP) in human REV3 gene, the product of which is a subunit of DNA polymerase ζ and SNPs in this gene are associated with altered susceptibility to cancer. This newly designed experiment is composed of three parts, including genomic DNA extraction, gene amplification by PCR, and genotyping by RFLP. By combining these activities, the students are not only able to learn a series of biotechniques in molecular biology, but also acquire the ability to link the learned knowledge with practical applications. This comprehensive experiment will help the medical students improve the conceptual understanding of SNP and the technical understanding of SNP detection. © 2017 by The International Union of Biochemistry and Molecular Biology, 45(4):299-304, 2017. © 2017 The International Union of Biochemistry and Molecular Biology.

  2. Etiology of Inguinal Hernias

    DEFF Research Database (Denmark)

    Öberg, Stina; Andresen, Kristoffer; Rosenberg, Jacob

    2017-01-01

    BACKGROUND: The etiology of inguinal hernias remains uncertain even though the lifetime risk of developing an inguinal hernia is 27% for men and 3% for women. The aim was to summarize the evidence on hernia etiology, with focus on differences between lateral and medial hernias. RESULTS: Lateral a...

  3. A Comprehensive Pan-Cancer Molecular Study of Gynecologic and Breast Cancers

    NARCIS (Netherlands)

    Berger, Ashton C.; Korkut, Anil; Kanchi, Rupa S.; Hegde, Apurva M.; Lenoir, Walter; Liu, Wenbin; Liu, Yuexin; Fan, Huihui; Shen, Hui; Ravikumar, Visweswaran; Rao, Arvind; Schultz, Andre; Li, Xubin; Sumazin, Pavel; Williams, Cecilia; Mestdagh, Pieter; Gunaratne, Preethi H.; Yau, Christina; Bowlby, Reanne; Robertson, A. Gordon; Tiezzi, Daniel G.; Wang, Chen; Cherniack, Andrew D.; Godwin, Andrew K.; Kuderer, Nicole M.; Rader, Janet S.; Zuna, Rosemary E.; Sood, Anil K.; Lazar, Alexander J.; Ojesina, Akinyemi I.; Adebamowo, Clement; Adebamowo, Sally N.; Baggerly, Keith A.; Chen, Ting Wen; Chiu, Hua Sheng; Lefever, Steve; Liu, Liang; MacKenzie, Karen; Orsulic, Sandra; Roszik, Jason; Shelley, Carl Simon; Song, Qianqian; Vellano, Christopher P.; Wentzensen, Nicolas; Caesar-Johnson, Samantha J.; Demchok, John A.; Felau, Ina; Kasapi, Melpomeni; Ferguson, Martin L.; Hutter, Carolyn M.; Sofia, Heidi J.; Tarnuzzer, Roy; Wang, Zhining; Yang, Liming; Zenklusen, Jean C.; Zhang, Jiashan (Julia); Chudamani, Sudha; Liu, Jia; Lolla, Laxmi; Naresh, Rashi; Pihl, Todd; Sun, Qiang; Wan, Yunhu; Wu, Ye; Cho, Juok; DeFreitas, Timothy; Frazer, Scott; Gehlenborg, Nils; Getz, Gad; Heiman, David I.; Kim, Jaegil; Lawrence, Michael S.; Lin, Pei; Meier, Sam; Noble, Michael S.; Saksena, Gordon; Voet, Doug; Zhang, Hailei; Bernard, Brady; Chambwe, Nyasha; Dhankani, Varsha; Knijnenburg, Theo; Kramer, Roger; Leinonen, Kalle; Liu, Yuexin; Miller, Michael; Reynolds, Sheila; Shmulevich, Ilya; Thorsson, Vesteinn; Zhang, Wei; Akbani, Rehan; Broom, Bradley M.; Hegde, Apurva M.; Ju, Zhenlin; Kanchi, Rupa S.; Korkut, Anil; Li, Jun; Liang, Han; Ling, Shiyun; Liu, Wenbin; Lu, Yiling; Mills, Gordon B.; Ng, Kwok Shing; Rao, Arvind; Ryan, Michael; Wang, Jing; Weinstein, John N.; Zhang, Jiexin; Abeshouse, Adam; Armenia, Joshua; Chakravarty, Debyani; Chatila, Walid K.; de Bruijn, Ino; Gao, Jianjiong; Gross, Benjamin E.; Heins, Zachary J.; Kundra, Ritika; La, Konnor; Ladanyi, Marc; Luna, Augustin; Nissan, Moriah G.; Ochoa, Angelica; Phillips, Sarah M.; Reznik, Ed; Sanchez-Vega, Francisco; Sander, Chris; Schultz, Nikolaus; Sheridan, Robert; Sumer, S. Onur; Sun, Yichao; Taylor, Barry S.; Wang, Jioajiao; Zhang, Hongxin; Anur, Pavana; Peto, Myron; Spellman, Paul; Benz, Christopher; Stuart, Joshua M.; Wong, Christopher K.; Yau, Christina; Hayes, D. Neil; Parker, Joel S.; Wilkerson, Matthew D.; Ally, Adrian; Balasundaram, Miruna; Bowlby, Reanne; Brooks, Denise; Carlsen, Rebecca; Chuah, Eric; Dhalla, Noreen; Holt, Robert; Jones, Steven J.M.; Kasaian, Katayoon; Lee, Darlene; Ma, Yussanne; Marra, Marco A.; Mayo, Michael; Moore, Richard A.; Mungall, Andrew J.; Mungall, Karen; Robertson, A. Gordon; Sadeghi, Sara; Schein, Jacqueline E.; Sipahimalani, Payal; Tam, Angela; Thiessen, Nina; Tse, Kane; Wong, Tina; Berger, Ashton C.; Beroukhim, Rameen; Cherniack, Andrew D.; Cibulskis, Carrie; Gabriel, Stacey B.; Gao, Galen F.; Ha, Gavin; Meyerson, Matthew; Schumacher, Steven E.; Shih, Juliann; Kucherlapati, Melanie H.; Kucherlapati, Raju S.; Baylin, Stephen; Cope, Leslie; Danilova, Ludmila; Bootwalla, Moiz S.; Lai, Phillip H.; Maglinte, Dennis T.; Van Den Berg, David J.; Weisenberger, Daniel J.; Auman, J. Todd; Balu, Saianand; Bodenheimer, Tom; Fan, Cheng; Hoadley, Katherine A.; Hoyle, Alan P.; Jefferys, Stuart R.; Jones, Corbin D.; Meng, Shaowu; Mieczkowski, Piotr A.; Mose, Lisle E.; Perou, Amy H.; Perou, Charles M.; Roach, Jeffrey; Shi, Yan; Simons, Janae V.; Skelly, Tara; Soloway, Matthew G.; Tan, Donghui; Veluvolu, Umadevi; Fan, Huihui; Hinoue, Toshinori; Laird, Peter W.; Shen, Hui; Zhou, Wanding; Bellair, Michelle; Chang, Kyle; Covington, Kyle; Creighton, Chad J.; Dinh, Huyen; Doddapaneni, Harsha Vardhan; Donehower, Lawrence A.; Drummond, Jennifer; Gibbs, Richard A.; Glenn, Robert; Hale, Walker; Han, Yi; Hu, Jianhong; Korchina, Viktoriya; Lee, Sandra; Lewis, Lora; Li, Wei; Liu, Xiuping; Morgan, Margaret; Morton, Donna; Muzny, Donna; Santibanez, Jireh; Sheth, Margi; Shinbrot, Eve; Wang, Linghua; Wang, Min; Wheeler, David A.; Xi, Liu; Zhao, Fengmei; Hess, Julian; Appelbaum, Elizabeth L.; Bailey, Matthew; Cordes, Matthew G.; Ding, Li; Fronick, Catrina C.; Fulton, Lucinda A.; Fulton, Robert S.; Kandoth, Cyriac; Mardis, Elaine R.; McLellan, Michael D.; Miller, Christopher A.; Schmidt, Heather K.; Wilson, Richard K.; Crain, Daniel; Curley, Erin; Gardner, Johanna; Lau, Kevin; Mallery, David; Morris, Scott; Paulauskis, Joseph; Penny, Robert; Shelton, Candace; Shelton, Troy; Sherman, Mark; Thompson, Eric; Yena, Peggy; Bowen, Jay; Gastier-Foster, Julie M.; Gerken, Mark; Leraas, Kristen M.; Lichtenberg, Tara M.; Ramirez, Nilsa C.; Wise, Lisa; Zmuda, Erik; Corcoran, Niall; Costello, Tony; Hovens, Christopher; Carvalho, Andre L.; de Carvalho, Ana C.; Fregnani, José H.; Longatto-Filho, Adhemar; Reis, Rui M.; Scapulatempo-Neto, Cristovam; Silveira, Henrique C.S.; Vidal, Daniel O.; Burnette, Andrew; Eschbacher, Jennifer; Hermes, Beth; Noss, Ardene; Singh, Rosy; Anderson, Matthew L.; Castro, Patricia D.; Ittmann, Michael; Huntsman, David; Kohl, Bernard; Le, Xuan; Thorp, Richard; Andry, Chris; Duffy, Elizabeth R.; Lyadov, Vladimir; Paklina, Oxana; Setdikova, Galiya; Shabunin, Alexey; Tavobilov, Mikhail; McPherson, Christopher; Warnick, Ronald; Berkowitz, Ross; Cramer, Daniel; Feltmate, Colleen; Horowitz, Neil; Kibel, Adam; Muto, Michael; Raut, Chandrajit P.; Malykh, Andrei; Barnholtz-Sloan, Jill S.; Barrett, Wendi; Devine, Karen; Fulop, Jordonna; Ostrom, Quinn T.; Shimmel, Kristen; Wolinsky, Yingli; Sloan, Andrew E.; De Rose, Agostino; Giuliante, Felice; Goodman, Marc; Karlan, Beth Y.; Hagedorn, Curt H.; Eckman, John; Harr, Jodi; Myers, Jerome; Tucker, Kelinda; Zach, Leigh Anne; Deyarmin, Brenda; Hu, Hai; Kvecher, Leonid; Larson, Caroline; Mural, Richard J.; Somiari, Stella; Vicha, Ales; Zelinka, Tomas; Bennett, Joseph; Iacocca, Mary; Rabeno, Brenda; Swanson, Patricia; Latour, Mathieu; Lacombe, Louis; Têtu, Bernard; Bergeron, Alain; McGraw, Mary; Staugaitis, Susan M.; Chabot, John; Hibshoosh, Hanina; Sepulveda, Antonia; Su, Tao; Wang, Timothy; Potapova, Olga; Voronina, Olga; Desjardins, Laurence; Mariani, Odette; Roman-Roman, Sergio; Sastre, Xavier; Stern, Marc Henri; Cheng, Feixiong; Signoretti, Sabina; Berchuck, Andrew; Bigner, Darell; Lipp, Eric; Marks, Jeffrey; McCall, Shannon; McLendon, Roger; Secord, Angeles; Sharp, Alexis; Behera, Madhusmita; Brat, Daniel J.; Chen, Amy; Delman, Keith; Force, Seth; Khuri, Fadlo; Magliocca, Kelly; Maithel, Shishir; Olson, Jeffrey J.; Owonikoko, Taofeek; Pickens, Alan; Ramalingam, Suresh; Shin, Dong M.; Sica, Gabriel; Van Meir, Erwin G.; Zhang, Hongzheng; Eijckenboom, Wil; Gillis, Ad; Korpershoek, Esther; Looijenga, Leendert; Oosterhuis, Wolter; Stoop, Hans; van Kessel, Kim E.; Zwarthoff, Ellen C.; Calatozzolo, Chiara; Cuppini, Lucia; Cuzzubbo, Stefania; DiMeco, Francesco; Finocchiaro, Gaetano; Mattei, Luca; Perin, Alessandro; Pollo, Bianca; Chen, Chu; Houck, John; Lohavanichbutr, Pawadee; Hartmann, Arndt; Stoehr, Christine; Stoehr, Robert; Taubert, Helge; Wach, Sven; Wullich, Bernd; Kycler, Witold; Murawa, Dawid; Wiznerowicz, Maciej; Chung, Ki; Edenfield, W. Jeffrey; Martin, Julie; Baudin, Eric; Bubley, Glenn; Bueno, Raphael; De Rienzo, Assunta; Richards, William G.; Kalkanis, Steven; Mikkelsen, Tom; Noushmehr, Houtan; Scarpace, Lisa; Girard, Nicolas; Aymerich, Marta; Campo, Elias; Giné, Eva; Guillermo, Armando López; Van Bang, Nguyen; Hanh, Phan Thi; Phu, Bui Duc; Tang, Yufang; Colman, Howard; Evason, Kimberley; Dottino, Peter R.; Martignetti, John A.; Gabra, Hani; Juhl, Hartmut; Akeredolu, Teniola; Stepa, Serghei; Hoon, Dave; Ahn, Keunsoo; Kang, Koo Jeong; Beuschlein, Felix; Breggia, Anne; Birrer, Michael; Bell, Debra; Borad, Mitesh; Bryce, Alan H.; Castle, Erik; Chandan, Vishal; Cheville, John; Copland, John A.; Farnell, Michael; Flotte, Thomas; Giama, Nasra; Ho, Thai; Kendrick, Michael; Kocher, Jean Pierre; Kopp, Karla; Moser, Catherine; Nagorney, David; O'Brien, Daniel; O'Neill, Brian Patrick; Patel, Tushar; Petersen, Gloria; Que, Florencia; Rivera, Michael; Roberts, Lewis; Smallridge, Robert; Smyrk, Thomas; Stanton, Melissa; Thompson, R. Houston; Torbenson, Michael; Yang, Ju Dong; Zhang, Lizhi; Brimo, Fadi; Ajani, Jaffer A.; Angulo Gonzalez, Ana Maria; Behrens, Carmen; Bondaruk, Jolanta; Broaddus, Russell; Czerniak, Bogdan; Esmaeli, Bita; Fujimoto, Junya; Gershenwald, Jeffrey; Guo, Charles; Lazar, Alexander J.; Logothetis, Christopher; Meric-Bernstam, Funda; Moran, Cesar; Ramondetta, Lois; Rice, David; Sood, Anil; Tamboli, Pheroze; Thompson, Timothy; Troncoso, Patricia; Tsao, Anne; Wistuba, Ignacio; Carter, Candace; Haydu, Lauren; Hersey, Peter; Jakrot, Valerie; Kakavand, Hojabr; Kefford, Richard; Lee, Kenneth; Long, Georgina; Mann, Graham; Quinn, Michael; Saw, Robyn; Scolyer, Richard; Shannon, Kerwin; Spillane, Andrew; Stretch, Jonathan; Synott, Maria; Thompson, John; Wilmott, James; Al-Ahmadie, Hikmat; Chan, Timothy A.; Ghossein, Ronald; Gopalan, Anuradha; Levine, Douglas A.; Reuter, Victor; Singer, Samuel; Singh, Bhuvanesh; Tien, Nguyen Viet; Broudy, Thomas; Mirsaidi, Cyrus; Nair, Praveen; Drwiega, Paul; Miller, Judy; Smith, Jennifer; Zaren, Howard; Park, Joong Won; Hung, Nguyen Phi; Kebebew, Electron; Linehan, W. Marston; Metwalli, Adam R.; Pacak, Karel; Pinto, Peter A.; Schiffman, Mark; Schmidt, Laura S.; Vocke, Cathy D.; Wentzensen, Nicolas; Worrell, Robert; Yang, Hannah; Moncrieff, Marc; Goparaju, Chandra; Melamed, Jonathan; Pass, Harvey; Botnariuc, Natalia; Caraman, Irina; Cernat, Mircea; Chemencedji, Inga; Clipca, Adrian; Doruc, Serghei; Gorincioi, Ghenadie; Mura, Sergiu; Pirtac, Maria; Stancul, Irina; Tcaciuc, Diana; Albert, Monique; Alexopoulou, Iakovina; Arnaout, Angel; Bartlett, John; Engel, Jay; Gilbert, Sebastien; Parfitt, Jeremy; Sekhon, Harman; Thomas, George; Rassl, Doris M.; Rintoul, Robert C.; Bifulco, Carlo; Tamakawa, Raina; Urba, Walter; Hayward, Nicholas; Timmers, Henri; Antenucci, Anna; Facciolo, Francesco; Grazi, Gianluca; Marino, Mirella; Merola, Roberta; de Krijger, Ronald; Gimenez-Roqueplo, Anne Paule; Piché, Alain; Chevalier, Simone; McKercher, Ginette; Birsoy, Kivanc; Barnett, Gene; Brewer, Cathy; Farver, Carol; Naska, Theresa; Pennell, Nathan A.; Raymond, Daniel; Schilero, Cathy; Smolenski, Kathy; Williams, Felicia; Morrison, Carl; Borgia, Jeffrey A.; Liptay, Michael J.; Pool, Mark; Seder, Christopher W.; Junker, Kerstin; Omberg, Larsson; Dinkin, Mikhail; Manikhas, George; Alvaro, Domenico; Bragazzi, Maria Consiglia; Cardinale, Vincenzo; Carpino, Guido; Gaudio, Eugenio; Chesla, David; Cottingham, Sandra; Dubina, Michael; Moiseenko, Fedor; Dhanasekaran, Renumathy; Becker, Karl Friedrich; Janssen, Klaus Peter; Slotta-Huspenina, Julia; Abdel-Rahman, Mohamed H.; Aziz, Dina; Bell, Sue; Cebulla, Colleen M.; Davis, Amy; Duell, Rebecca; Elder, J. Bradley; Hilty, Joe; Kumar, Bahavna; Lang, James; Lehman, Norman L.; Mandt, Randy; Nguyen, Phuong; Pilarski, Robert; Rai, Karan; Schoenfield, Lynn; Senecal, Kelly; Wakely, Paul; Hansen, Paul; Lechan, Ronald; Powers, James; Tischler, Arthur; Grizzle, William E.; Sexton, Katherine C.; Kastl, Alison; Henderson, Joel; Porten, Sima; Waldmann, Jens; Fassnacht, Martin; Asa, Sylvia L.; Schadendorf, Dirk; Couce, Marta; Graefen, Markus; Huland, Hartwig; Sauter, Guido; Schlomm, Thorsten; Simon, Ronald; Tennstedt, Pierre; Olabode, Oluwole; Nelson, Mark; Bathe, Oliver; Carroll, Peter R.; Chan, June M.; Disaia, Philip; Glenn, Pat; Kelley, Robin K.; Landen, Charles N.; Phillips, Joanna; Prados, Michael; Simko, Jeffry; Smith-McCune, Karen; VandenBerg, Scott; Roggin, Kevin; Fehrenbach, Ashley; Kendler, Ady; Sifri, Suzanne; Steele, Ruth; Jimeno, Antonio; Carey, Francis; Forgie, Ian; Mannelli, Massimo; Carney, Michael; Hernandez, Brenda; Campos, Benito; Herold-Mende, Christel; Jungk, Christin; Unterberg, Andreas; von Deimling, Andreas; Bossler, Aaron; Galbraith, Joseph; Jacobus, Laura; Knudson, Michael; Knutson, Tina; Ma, Deqin; Milhem, Mohammed; Sigmund, Rita; Godwin, Andrew K.; Madan, Rashna; Rosenthal, Howard G.; Adebamowo, Clement; Adebamowo, Sally N.; Boussioutas, Alex; Beer, David; Giordano, Thomas; Mes-Masson, Anne Marie; Saad, Fred; Bocklage, Therese; Landrum, Lisa; Mannel, Robert; Moore, Kathleen; Moxley, Katherine; Postier, Russel; Walker, Joan; Zuna, Rosemary; Feldman, Michael; Valdivieso, Federico; Dhir, Rajiv; Luketich, James; Mora Pinero, Edna M.; Quintero-Aguilo, Mario; Carlotti, Carlos Gilberto; Dos Santos, Jose Sebastião; Kemp, Rafael; Sankarankuty, Ajith; Tirapelli, Daniela; Catto, James; Agnew, Kathy; Swisher, Elizabeth; Creaney, Jenette; Robinson, Bruce; Shelley, Carl Simon; Godwin, Eryn M.; Kendall, Sara; Shipman, Cassaundra; Bradford, Carol; Carey, Thomas; Haddad, Andrea; Moyer, Jeffey; Peterson, Lisa; Prince, Mark; Rozek, Laura; Wolf, Gregory; Bowman, Rayleen; Fong, Kwun M.; Yang, Ian; Korst, Robert; Rathmell, W. Kimryn; Fantacone-Campbell, J. Leigh; Hooke, Jeffrey A.; Kovatich, Albert J.; Shriver, Craig D.; DiPersio, John; Drake, Bettina; Govindan, Ramaswamy; Heath, Sharon; Ley, Timothy; Van Tine, Brian; Westervelt, Peter; Rubin, Mark A.; Lee, Jung Il; Aredes, Natália D.; Mariamidze, Armaz; Weinstein, John N.; Mills, Gordon B.; Levine, Douglas A.; Akbani, Rehan

    2018-01-01

    We analyzed molecular data on 2,579 tumors from The Cancer Genome Atlas (TCGA) of four gynecological types plus breast. Our aims were to identify shared and unique molecular features, clinically significant subtypes, and potential therapeutic targets. We found 61 somatic copy-number alterations

  4. Comprehensive Molecular Profiling of African-American Prostate Cancer to Inform on Prognosis and Disease Biology

    Science.gov (United States)

    2017-10-01

    including suggestions for reducing this burden to Department of Defense, Washington Headquarters Services, Directorate for Information Operations...2% Movember-Prostate Cancer Foundation $250,000/yr Challenge Award Interrogating DNA Repair Defects to Improve Management...Improve Treatment for Advanced Prostate Cancer Goal(s): Comprehensively interrogate DNA repair alterations in both AR-positive and AR-negative CRPC

  5. Comprehensive Molecular Characterization of Muscle-Invasive Bladder Cancer. | Office of Cancer Genomics

    Science.gov (United States)

    We report a comprehensive analysis of 412 muscle-invasive bladder cancers characterized by multiple TCGA analytical platforms. Fifty-eight genes were significantly mutated, and the overall mutational load was associated with APOBEC-signature mutagenesis. Clustering by mutation signature identified a high-mutation subset with 75% 5-year survival.

  6. The Cancer Genome Atlas Comprehensive Molecular Characterization of Renal Cell Carcinoma

    OpenAIRE

    Christopher J. Ricketts; Aguirre A. De Cubas; Huihui Fan; Christof C. Smith; Martin Lang; Ed Reznik; Reanne Bowlby; Ewan A. Gibb; Rehan Akbani; Rameen Beroukhim; Donald P. Bottaro; Toni K. Choueiri; Richard A. Gibbs; Andrew K. Godwin; Scott Haake

    2018-01-01

    Summary: Renal cell carcinoma (RCC) is not a single disease, but several histologically defined cancers with different genetic drivers, clinical courses, and therapeutic responses. The current study evaluated 843 RCC from the three major histologic subtypes, including 488 clear cell RCC, 274 papillary RCC, and 81 chromophobe RCC. Comprehensive genomic and phenotypic analysis of the RCC subtypes reveals distinctive features of each subtype that provide the foundation for the development of sub...

  7. Whole-genome sequencing and comprehensive molecular profiling identify new driver mutations in gastric cancer

    NARCIS (Netherlands)

    Wang, Kai; Yuen, Siu Tsan; Xu, Jiangchun; Lee, Siu Po; Yan, Helen H N; Shi, Stephanie T; Siu, Hoi Cheong; Deng, Shibing; Chu, Kent Man; Law, Simon; Chan, Kok Hoe; Chan, Annie S Y; Tsui, Wai Yin; Ho, Siu Lun; Chan, Anthony K W; Man, Jonathan L K; Foglizzo, Valentina; Ng, Man Kin; Chan, April S; Ching, Yick Pang; Cheng, Grace H W; Xie, Tao; Fernandez, Julio; Li, Vivian S W; Clevers, Hans; Rejto, Paul A; Mao, Mao; Leung, Suet Yi

    Gastric cancer is a heterogeneous disease with diverse molecular and histological subtypes. We performed whole-genome sequencing in 100 tumor-normal pairs, along with DNA copy number, gene expression and methylation profiling, for integrative genomic analysis. We found subtype-specific genetic and

  8. Comprehensive molecular tumor profiling in radiation oncology: How it could be used for precision medicine.

    Science.gov (United States)

    Eke, Iris; Makinde, Adeola Y; Aryankalayil, Molykutty J; Ahmed, Mansoor M; Coleman, C Norman

    2016-11-01

    New technologies enabling the analysis of various molecules, including DNA, RNA, proteins and small metabolites, can aid in understanding the complex molecular processes in cancer cells. In particular, for the use of novel targeted therapeutics, elucidation of the mechanisms leading to cell death or survival is crucial to eliminate tumor resistance and optimize therapeutic efficacy. While some techniques, such as genomic analysis for identifying specific gene mutations or epigenetic testing of promoter methylation, are already in clinical use, other "omics-based" assays are still evolving. Here, we provide an overview of the current status of molecular profiling methods, including promising research strategies, as well as possible challenges, and their emerging role in radiation oncology. Published by Elsevier Ireland Ltd.

  9. A COMPREHENSIVE STUDY OF HYDROGEN ADSORBING TO AMORPHOUS WATER ICE: DEFINING ADSORPTION IN CLASSICAL MOLECULAR DYNAMICS

    Energy Technology Data Exchange (ETDEWEB)

    Dupuy, John L.; Lewis, Steven P.; Stancil, P. C. [Department of Physics and Astronomy and the Center for Simulational Physics, University of Georgia, Athens, GA 30602 (United States)

    2016-11-01

    Gas–grain and gas–phase reactions dominate the formation of molecules in the interstellar medium (ISM). Gas–grain reactions require a substrate (e.g., a dust or ice grain) on which the reaction is able to occur. The formation of molecular hydrogen (H{sub 2}) in the ISM is the prototypical example of a gas–grain reaction. In these reactions, an atom of hydrogen will strike a surface, stick to it, and diffuse across it. When it encounters another adsorbed hydrogen atom, the two can react to form molecular hydrogen and then be ejected from the surface by the energy released in the reaction. We perform in-depth classical molecular dynamics simulations of hydrogen atoms interacting with an amorphous water-ice surface. This study focuses on the first step in the formation process; the sticking of the hydrogen atom to the substrate. We find that careful attention must be paid in dealing with the ambiguities in defining a sticking event. The technical definition of a sticking event will affect the computed sticking probabilities and coefficients. Here, using our new definition of a sticking event, we report sticking probabilities and sticking coefficients for nine different incident kinetic energies of hydrogen atoms [5–400 K] across seven different temperatures of dust grains [10–70 K]. We find that probabilities and coefficients vary both as a function of grain temperature and incident kinetic energy over the range of 0.99–0.22.

  10. Etiology of Inguinal Hernias

    DEFF Research Database (Denmark)

    Öberg, Stina; Andresen, Kristoffer; Rosenberg, Jacob

    2017-01-01

    BACKGROUND: The etiology of inguinal hernias remains uncertain even though the lifetime risk of developing an inguinal hernia is 27% for men and 3% for women. The aim was to summarize the evidence on hernia etiology, with focus on differences between lateral and medial hernias. RESULTS: Lateral...... and medial hernias seem to have common as well as different etiologies. A patent processus vaginalis and increased cumulative mechanical exposure are risk factors for lateral hernias. Patients with medial hernias seem to have a more profoundly altered connective tissue architecture and homeostasis compared...... mechanisms why processus vaginalis fails to obliterate in certain patients should also be clarified. Not all patients with a patent processus vaginalis develop a lateral hernia, but increased intraabdominal pressure appears to be a contributing factor....

  11. Energy transformation in molecular electronic systems: Comprehensive progress report, 1986--1989

    International Nuclear Information System (INIS)

    Kasha, M.

    1989-01-01

    Our research focuses on discovering the fundamental issues in proton-transfer and charge-transfer excitations in model systems, with an eye on which molecular systems will serve as the best guide to biological systems. This report addresses an intramolecular proton transfer classification system, proton-transfer potentials, proton-transfer spectroscopy of benzanilides, proton-transfer in aminosalicylates, proton-transfer in lumichrome, development of proton-transfer lasers, and triplet excitation enhancement via proton-transfer tunneling. 6 refs., 2 figs

  12. Erdheim-Chester Disease: Comprehensive Review of Molecular Profiling and Therapeutic Advances.

    Science.gov (United States)

    Haroun, Faysal; Millado, Kristen; Tabbara, Imad

    2017-06-01

    The revised 2016 World Health Organization classification introduced Erdheim-Chester disease (ECD) as a provisional entity within the histiocytic and dendritic cell neoplasms separate from the juvenile xanthogranuloma family based on distinct molecular features. However, evolving knowledge regarding the molecular and genetic aberrations in addition to common clinical features of ECD support the classification of ECD together with Langerhans cell histiocytosis (LCH). Accordingly, ECD can be thought of as an inflammatory myeloid clonal disorder based on the detection of various activating mutations along the mitogen activated protein kinase-extracellular signal regulated kinase (MAPK-ERK) pathway with most notable variant being a valine to a glutamic acid substitution at amino acid 600 in the B-rapidly accelerated fibrosarcoma protein (BRAFV600E). In this group, targeted therapy with a B-Raf inhibitor alone or combined with a MAPK-ERK (MEK) inhibitor has shown promising results based on several case reports. Currently, two phase II trials with BRAF inhibitors are underway and could potentially change the standard of care. MEK inhibitors may also be efficacious in ECD harboring mutations in MAP2K1; other potential targetable aberrations include programed cell death receptor 1 and mutations in phosphoinositide 3-kinase. Copyright© 2017, International Institute of Anticancer Research (Dr. George J. Delinasios), All rights reserved.

  13. Comprehensive Analysis of Low-Molecular-Weight Human Plasma Proteome Using Top-Down Mass Spectrometry.

    Science.gov (United States)

    Cheon, Dong Huey; Nam, Eun Ji; Park, Kyu Hyung; Woo, Se Joon; Lee, Hye Jin; Kim, Hee Cheol; Yang, Eun Gyeong; Lee, Cheolju; Lee, Ji Eun

    2016-01-04

    While human plasma serves as a great source for disease diagnosis, low-molecular-weight (LMW) proteome (mass spectrometry to analyze the LMW proteoforms present in four types of human plasma samples pooled from three healthy controls (HCs) without immunoaffinity depletion and with depletion of the top two, six, and seven high-abundance proteins. The LMW proteoforms were first fractionated based on molecular weight using gel-eluted liquid fraction entrapment electrophoresis (GELFrEE). Then, the GELFrEE fractions containing up to 30 kDa were subjected to nanocapillary-LC-MS/MS, and the high-resolution MS and MS/MS data were processed using ProSightPC 3.0. As a result, a total of 442 LMW proteins and cleaved products, including those with post-translational modifications and single amino acid variations, were identified. From additional comparative analysis of plasma samples without immunoaffinity depletion between HCs and colorectal cancer (CRC) patients via top-down approach, tens of LMW proteoforms, including platelet factor 4, were found to show >1.5-fold changes between the plasma samples of HCs and CRC patients, and six of the LMW proteins were verified by Western blot analysis.

  14. Proteomics at the center of nutrigenomics: comprehensive molecular understanding of dietary health effects.

    Science.gov (United States)

    Kussmann, Martin; Affolter, Michael

    2009-01-01

    Apart from the air we breathe, food is the only physical matter we take into our body during our life. Nutrition exhibits therefore the most important life-long environmental impact on human health. Food components interact with our body at system, organ, cellular, and molecular levels. These dietary components come in complex mixtures, in which not only the presence and concentrations of a single compound but also interactions of multiple compounds determine ingredient bioavailability and bioefficacy. Modern nutritional and health research focuses on promoting health, preventing or delaying the onset of disease, and optimizing performance. Deciphering the molecular interplay between food and health requires therefore holistic approaches because nutritional improvement of certain health aspects must not be compromised by deterioration of others. In other words, in nutrition, we have to get everything right. Proteomics is a central platform in nutrigenomics that describes how our genome expresses itself as a response to diet. Nutrigenetics deals with our genetic predisposition and susceptibility toward diet and helps stratify subject cohorts and discern responders from non-responders. Epigenetics represent DNA sequence-unrelated biochemical modifications of DNA itself and DNA-binding proteins and appears to provide a format for life-long or even transgeneration imprinting of metabolism. Proteomics in nutrition can identify and quantify bioactive proteins and peptides and addresses questions of nutritional bioefficacy. In this review, we focus on these latter aspects, update the reader on technologic developments, and review major applications.

  15. Biodiversity and dynamics of meat fermentations: the contribution of molecular methods for a better comprehension of a complex ecosystem.

    Science.gov (United States)

    Cocolin, Luca; Dolci, Paola; Rantsiou, Kalliopi

    2011-11-01

    The ecology of fermented sausages is complex and includes different species and strains of bacteria, yeasts and molds. The developments in the field of molecular biology, allowed for new methods to become available, which could be applied to better understand dynamics and diversity of the microorganisms involved in the production of sausages. Methods, such as denaturing gradient gel electrophoresis (DGGE), employed as a culture-independent approach, allow to define the microbial dynamics during the fermentation and ripening. Such approach has highlighted that two main species of lactic acid bacteria, namely Lactobacillus sakei and Lb. curvatus, are involved in the transformation process and that they are accompanied by Staphylococcus xylosus, as representative of the coagulase-negative cocci. These findings were repeatedly confirmed in different regions of the world, mainly in the Mediterranean countries where dry fermented sausages have a long tradition and history. The application of molecular methods for the identification and characterization of isolated strains from fermentations highlighted a high degree of diversity within the species mentioned above, underlining the need to better follow strain dynamics during the transformation process. While there is an important number of papers dealing with bacterial ecology by using molecular methods, studies on mycobiota of fermented sausages are just a few. This review reports on how the application of molecular methods made possible a better comprehension of the sausage fermentations, opening up new fields of research that in the near future will allow to unravel the connection between sensory properties and co-presence of multiple strains of the same species. Copyright © 2011 Elsevier Ltd. All rights reserved.

  16. Comprehensive molecular diagnosis of a large cohort of Japanese retinitis pigmentosa and Usher syndrome patients by next-generation sequencing.

    Science.gov (United States)

    Oishi, Maho; Oishi, Akio; Gotoh, Norimoto; Ogino, Ken; Higasa, Koichiro; Iida, Kei; Makiyama, Yukiko; Morooka, Satoshi; Matsuda, Fumihiko; Yoshimura, Nagahisa

    2014-10-16

    Retinitis pigmentosa (RP), a major cause of blindness in developed countries, has multiple causative genes; its prevalence differs by ethnicity. Usher syndrome is the most common form of syndromic RP and is accompanied by hearing impairment. Although molecular diagnosis is challenging, recent technological advances such as targeted high-throughput resequencing are efficient screening tools. We performed comprehensive molecular testing in 329 Japanese RP and Usher syndrome patients by using a custom capture panel that covered the coding exons and exon/intron boundaries of all 193 known inherited eye disease genes combined with Illumina HiSequation 2500. Candidate variants were screened using systematic data analyses, and their potential pathogenicity was assessed according to the frequency of the variants in normal populations, in silico prediction tools, and compatibility with known phenotypes or inheritance patterns. Molecular diagnoses were made in 115/317 RP patients (36.3%) and 6/12 Usher syndrome patients (50%). We identified 104 distinct mutations, including 66 novel mutations. EYS, USH2A, and RHO were common causative genes. In particular, mutations in EYS accounted for 15.0% of the autosomal recessive/simplex RP patients or 10.7% of the entire RP cohort. Among the 189 previously reported mutations detected in the current study, 55 (29.1%) were found commonly in Japanese or other public databases and were excluded from molecular diagnoses. By screening a large cohort of patients, this study catalogued the genetic variations involved in RP and Usher syndrome in a Japanese population and highlighted the different distribution of causative genes among populations. Copyright 2014 The Association for Research in Vision and Ophthalmology, Inc.

  17. Comprehensive expression profiling of tumor cell lines identifies molecular signatures of melanoma progression.

    Directory of Open Access Journals (Sweden)

    Byungwoo Ryu

    2007-07-01

    Full Text Available Gene expression profiling has revolutionized our ability to molecularly classify primary human tumors and significantly enhanced the development of novel tumor markers and therapies; however, progress in the diagnosis and treatment of melanoma over the past 3 decades has been limited, and there is currently no approved therapy that significantly extends lifespan in patients with advanced disease. Profiling studies of melanoma to date have been inconsistent due to the heterogeneous nature of this malignancy and the limited availability of informative tissue specimens from early stages of disease.In order to gain an improved understanding of the molecular basis of melanoma progression, we have compared gene expression profiles from a series of melanoma cell lines representing discrete stages of malignant progression that recapitulate critical characteristics of the primary lesions from which they were derived. Here we describe the unsupervised hierarchical clustering of profiling data from melanoma cell lines and melanocytes. This clustering identifies two distinctive molecular subclasses of melanoma segregating aggressive metastatic tumor cell lines from less-aggressive primary tumor cell lines. Further analysis of expression signatures associated with melanoma progression using functional annotations categorized these transcripts into three classes of genes: 1 Upregulation of activators of cell cycle progression, DNA replication and repair (CDCA2, NCAPH, NCAPG, NCAPG2, PBK, NUSAP1, BIRC5, ESCO2, HELLS, MELK, GINS1, GINS4, RAD54L, TYMS, and DHFR, 2 Loss of genes associated with cellular adhesion and melanocyte differentiation (CDH3, CDH1, c-KIT, PAX3, CITED1/MSG-1, TYR, MELANA, MC1R, and OCA2, 3 Upregulation of genes associated with resistance to apoptosis (BIRC5/survivin. While these broad classes of transcripts have previously been implicated in the progression of melanoma and other malignancies, the specific genes identified within each class

  18. The Cancer Genome Atlas Comprehensive Molecular Characterization of Renal Cell Carcinoma

    Directory of Open Access Journals (Sweden)

    Christopher J. Ricketts

    2018-04-01

    Full Text Available Summary: Renal cell carcinoma (RCC is not a single disease, but several histologically defined cancers with different genetic drivers, clinical courses, and therapeutic responses. The current study evaluated 843 RCC from the three major histologic subtypes, including 488 clear cell RCC, 274 papillary RCC, and 81 chromophobe RCC. Comprehensive genomic and phenotypic analysis of the RCC subtypes reveals distinctive features of each subtype that provide the foundation for the development of subtype-specific therapeutic and management strategies for patients affected with these cancers. Somatic alteration of BAP1, PBRM1, and PTEN and altered metabolic pathways correlated with subtype-specific decreased survival, while CDKN2A alteration, increased DNA hypermethylation, and increases in the immune-related Th2 gene expression signature correlated with decreased survival within all major histologic subtypes. CIMP-RCC demonstrated an increased immune signature, and a uniform and distinct metabolic expression pattern identified a subset of metabolically divergent (MD ChRCC that associated with extremely poor survival. : Ricketts et al. find distinctive features of each RCC subtype, providing the foundation for development of subtype-specific therapeutic and management strategies. Somatic alteration of BAP1, PBRM1, and metabolic pathways correlates with subtype-specific decreased survival, while CDKN2A alteration, DNA hypermethylation, and Th2 immune signature correlate with decreased survival within all subtypes. Keywords: clear cell renal cell carcinoma, papillary renal cell carcinoma, chromophobe renal cell carcinoma, CDKN2A, DNA hypermethylation, immune signature, chromatin remodeling, TCGA, PanCanAtlas

  19. Structure and dynamics of molecular networks: A novel paradigm of drug discovery: A comprehensive review

    Science.gov (United States)

    Csermely, Peter; Korcsmáros, Tamás; Kiss, Huba J.M.; London, Gábor; Nussinov, Ruth

    2013-01-01

    Despite considerable progress in genome- and proteome-based high-throughput screening methods and in rational drug design, the increase in approved drugs in the past decade did not match the increase of drug development costs. Network description and analysis not only gives a systems-level understanding of drug action and disease complexity, but can also help to improve the efficiency of drug design. We give a comprehensive assessment of the analytical tools of network topology and dynamics. The state-of-the-art use of chemical similarity, protein structure, protein-protein interaction, signaling, genetic interaction and metabolic networks in the discovery of drug targets is summarized. We propose that network targeting follows two basic strategies. The “central hit strategy” selectively targets central node/edges of the flexible networks of infectious agents or cancer cells to kill them. The “network influence strategy” works against other diseases, where an efficient reconfiguration of rigid networks needs to be achieved. It is shown how network techniques can help in the identification of single-target, edgetic, multi-target and allo-network drug target candidates. We review the recent boom in network methods helping hit identification, lead selection optimizing drug efficacy, as well as minimizing side-effects and drug toxicity. Successful network-based drug development strategies are shown through the examples of infections, cancer, metabolic diseases, neurodegenerative diseases and aging. Summarizing >1200 references we suggest an optimized protocol of network-aided drug development, and provide a list of systems-level hallmarks of drug quality. Finally, we highlight network-related drug development trends helping to achieve these hallmarks by a cohesive, global approach. PMID:23384594

  20. Current molecular profile of juvenile nasopharyngeal angiofibroma: First comprehensive study from India.

    Science.gov (United States)

    Pandey, Praveen; Mishra, Anupam; Tripathi, Ashoak Mani; Verma, Veerendra; Trivedi, Ritu; Singh, Hitendra Prakash; Kumar, Sunil; Patel, Brijesh; Singh, Vinay; Pandey, Shivani; Pandey, Amita; Mishra, Subhash Chandra

    2017-03-01

    An attempt is made to analyze the molecular behavior of juvenile nasopharyngeal angiofibroma (JNA). Case Series METHODS: Quantification of mRNAs expression was undertaken through real-time polymerase chain reaction in JNA (9-24) samples for VEGF-A, basic fibroblast growth factor (b-FGF), platelet-derived growth factor PDGF-A, KIT proto-oncogene receptor tyrosine kinase (c-Kit), Avian myelomatosis viral oncogene homolog (c-Myc), Harvey rat sarcoma viral oncogene homolog (H-Ras), tumor suppressor gene TP53, and androgen receptor and interleukin 6 (IL-6). The β-catenin expression was evaluated by western blot in 16 samples. Nasal polyp was taken as control. A significantly increased (P < 0.01) expression of c-myc, VEGFA, bFGF, PDGFA, c-kit, and TP53 was seen, along with enhanced expression of β-catenin. A massive enhancement of H-Ras expression was seen for the first time. Androgen receptor expression was no different, whereas IL-6 despite showing upregulation trend was not significant. The enhanced expressions of various markers suggest their potential role in JNA. Although the biological significance of c-kit, c-myc, and one of the novel markers H-Ras has yet to be defined, their significant expression may have a therapeutic importance. NA. Laryngoscope, 127:E100-E106, 2017. © 2016 The American Laryngological, Rhinological and Otological Society, Inc.

  1. Comprehensive representation of the Lennard-Jones equation of state based on molecular dynamics simulation data

    Science.gov (United States)

    Pieprzyk, S.; Brańka, A. C.; Maćkowiak, Sz.; Heyes, D. M.

    2018-03-01

    The equation of state (EoS) of the Lennard-Jones fluid is calculated using a new set of molecular dynamics data which extends to higher temperature than in previous studies. The modified Benedict-Webb-Rubin (MBWR) equation, which goes up to ca. T ˜ 6, is reparametrized with new simulation data. A new analytic form for the EoS, which breaks the fluid range into two regions with different analytic forms and goes up to ca. T ≃ 35, is also proposed. The accuracy of the new formulas is at least as good as the MBWR fit and goes to much higher temperature allowing it to now encompass the Amagat line. The fitted formula extends into the high temperature range where the system can be well represented by inverse power potential scaling, which means that our specification of the equation of state covers the entire (ρ, T) plane. Accurate analytic fit formulas for the Boyle, Amagat, and inversion curves are presented. Parametrizations of the extrema loci of the isochoric, CV, and isobaric, CP, heat capacities are given. As found by others, a line maxima of CP terminates in the critical point region, and a line of minima of CP terminates on the freezing line. The line of maxima of CV terminates close to or at the critical point, and a line of minima of CV terminates to the right of the critical point. No evidence for a divergence in CV in the critical region is found.

  2. Current immunological and molecular biological perspectives on seafood allergy: a comprehensive review.

    Science.gov (United States)

    Leung, Nicki Y H; Wai, Christine Y Y; Shu, ShangAn; Wang, Jinjun; Kenny, Thomas P; Chu, Ka Hou; Leung, Patrick S C

    2014-06-01

    Seafood is an important component in human diet and nutrition worldwide. However, seafood also constitutes one of the most important groups of foods in the induction of immediate (type I) food hypersensitivity, which significantly impacts the quality of life and healthcare cost. Extensive efforts within the past two decades have revealed the molecular identities and immunological properties of the major fish and shellfish allergens. The major allergen involved in allergy and cross-reactivity among different fish species was identified as parvalbumin while that responsible for shellfish (crustaceans and mollusks) allergy was identified as tropomyosin. The cloning and expression of the recombinant forms of these seafood allergens facilitate the investigation on the detailed mechanisms leading to seafood allergies, mapping of IgE-binding epitopes, and assessment of their allergenicity and stability. Future research focusing on the immunological cross-reactivity and discovery of novel allergens will greatly facilitate the management of seafood allergies and the design of effective and life-long allergen-specific immunotherapies.

  3. Elucidating the interaction of clofazimine with bovine liver catalase; a comprehensive spectroscopic and molecular docking approach.

    Science.gov (United States)

    Zaman, Masihuz; Nusrat, Saima; Zakariya, Syed Mohammad; Khan, Mohsin Vahid; Ajmal, Mohammad Rehan; Khan, Rizwan Hasan

    2017-08-01

    Nowadays, understanding of interface between protein and drugs has become an active research area of interest. These types of interactions provide structural guidelines in drug design with greater clinical efficacy. Thus, structural changes in catalase induced by clofazimine were monitored by various biophysical techniques including UV-visible spectrometer, fluorescence spectroscopy, circular dichroism, and dynamic light scattering techniques. Increase in absorption spectra (UV-visible spectrum) confers the complex formation between drug and protein. Fluorescence quenching with a binding constants of 2.47 × 10 4  M -1 revealed that clofazimine binds with protein. Using fluorescence resonance energy transfer, the distance (r) between the protein (donor) and drug (acceptor) was found to be 2.89 nm. Negative Gibbs free energy change (ΔG°) revealed that binding process is spontaneous. In addition, an increase in α-helicity was observed by far-UV circular dichroism spectra by adding clofazimine to protein. Dynamic light scattering results indicate that topology of bovine liver catalase was slightly altered in the presence of clofazimine. Hydrophobic interactions are the main forces between clofazimine and catalase interaction as depicted by molecular docking studies. Apart from hydrophobic interactions, some hydrogen bonding was also observed during docking method. The results obtained from the present study may establish abundant in optimizing the properties of ligand-protein mixtures relevant for numerous formulations. Copyright © 2017 John Wiley & Sons, Ltd.

  4. Molecular and Thermodynamic Properties of Zwitterions versus Ionic Liquids: A Comprehensive Computational Analysis to Develop Advanced Separation Processes.

    Science.gov (United States)

    Moreno, Daniel; Gonzalez-Miquel, Maria; Ferro, Victor R; Palomar, Jose

    2018-04-05

    Zwitterion ionic liquids (ZIs) are compounds in which both counterions are covalently tethered, conferring them with unique characteristics; however, most of their properties are still unknown, representing a bottleneck to exploit their practical applications. Herein, the molecular and fluid properties of ZIs and their mixtures were explored by means of quantum chemical analysis based on the density functional theory (DFT) and COSMO-RS method, and compared against homologous ionic liquids (ILs) to provide a comprehensive overview of the effect of the distinct structures on their physicochemical and thermodynamic behavior. Overall, ZIs were revealed as compounds with higher polarity and stronger hydrogen-bonding capacity, implying higher density, viscosity, melting point, and even lower volatility than structurally similar ILs. The phase equilibrium of binary and ternary systems supports stronger attractive interactions between ZIs and polar compounds, whereas higher liquid-liquid immiscibility with nonpolar compounds may be expected. Ultimately, the performance of ZIs in the wider context of separation processes is illustrated, while providing molecular insights to allow their selection and design for relevant applications. © 2018 Wiley-VCH Verlag GmbH & Co. KGaA, Weinheim.

  5. Pulsed flow modulation two-dimensional comprehensive gas chromatography-tandem mass spectrometry with supersonic molecular beams.

    Science.gov (United States)

    Poliak, Marina; Fialkov, Alexander B; Amirav, Aviv

    2008-11-07

    Pulsed flow modulation (PFM) two-dimensional comprehensive gas chromatography (GC x GC) was combined with quadrupole-based mass spectrometry (MS) via a supersonic molecular beam (SMB) interface using a triple-quadrupole system as the base platform, which enabled tandem mass spectrometry (MS-MS). PFM is a simple GC x GC modulator that does not consume cryogenic gases while providing tunable second GC x GC column injection time for enabling the use of quadrupole-based mass spectrometry regardless its limited scanning speed. The 20-ml/min second column flow rate involved with PFM is handled, splitless, by the SMB interface without affecting the sensitivity. The combinations of PFM GC x GC-MS with SMB and PFM GC x GC-MS-MS with SMB were explored with the analysis of diazinon and permethrin in coriander. PFM GC x GC-MS with SMB is characterized by enhanced molecular ion and tailing-free fast ion source response time. It enables universal pesticide analysis with full scan and data analysis with reconstructed single ion monitoring on the enhanced molecular ion and another prominent high mass fragment ion. The elimination of the third fragment ion used in standard three ions method results in significantly reduced matrix interference. GC x GC-MS with SMB improves the GC separation, and thereby our ability for sample identification using libraries. GC-MS-MS with SMB provides better reduction (elimination) of matrix interference than GC x GC-MS. However, it is a target method, which is not always applicable. GC x GC-MS-MS does not seem to further reduce matrix interferences over GC-MS-MS and unlike GC x GC-MS, it is incompatible with library identification, but it is beneficial to have both GC x GC and MS-MS capabilities in the same system.

  6. Compression etiology in tendinopathy.

    Science.gov (United States)

    Almekinders, Louis C; Weinhold, Paul S; Maffulli, Nicola

    2003-10-01

    Recent studies have emphasized that the etiology of tendinopathy is not as simple as was once thought. The etiology is likely to be multifactorial. Etiologic factors may include some of the traditional factors such as overuse, inflexibility, and equipment problems; however, other factors need to be considered as well, such as age-related tendon degeneration and biomechanical considerations as outlined in this article. More research is needed to determine the significance of stress-shielding and compression in tendinopathy. If they are confirmed to play a role, this finding may significantly alter our approach in both prevention and in treatment through exercise therapy. The current biomechanical studies indicate that certain joint positions are more likely to place tensile stress on the area of the tendon commonly affected by tendinopathy. These joint positions seem to be different than the traditional positions for stretching exercises used for prevention and rehabilitation of tendinopathic conditions. Incorporation of different joint positions during stretching exercises may exert more uniform, controlled tensile stress on these affected areas of the tendon and avoid stresshielding. These exercises may be able to better maintain the mechanical strength of that region of the tendon and thereby avoid injury. Alternatively, they could more uniformly stress a healing area of the tendon in a controlled manner, and thereby stimulate healing once an injury has occurred. Additional work will have to prove if a change in rehabilitation exercises is more efficacious that current techniques.

  7. Clarification of the Etiology of Glomerella Leaf Spot and Bitter Rot of Apple Caused by Colletotrichum spp. Based on Morphology and Genetic, Molecular, and Pathogenicity Tests.

    Science.gov (United States)

    González, Eugenia; Sutton, Turner B; Correll, James C

    2006-09-01

    ABSTRACT Morphological characteristics and vegetative compatibility groups (VCGs) of 486 isolates of Glomerella cingulata, Colletotrichum gloeosporioides, and C. acutatum collected from apple leaves with Glomerella leaf spot (GLS) symptoms and fruit with bitter rot symptoms in the United States and Brazil were studied. From this collection, 155 isolates of G. cingulata (93 from fruit, 61 from leaves, and 1 from buds), 42 isolates of C. gloeosporioides from fruit, and 14 isolates of C. acutatum (10 from fruit and 4 from leaves) were studied using mitochondrial (mt)DNA restriction fragment length polymorphism (RFLP) haplotypes. A subset of 24 isolates was studied by examining the sequence of a 200-bp intron of the glyceraldehyde 3-phosphate dehydrogenase (GDPH) nuclear gene. In addition, 98 isolates were tested for pathogenicity on leaves of cvs. Gala and Golden Delicious in the greenhouse, and 24 isolates were tested for pathogenicity on fruit of cv. Gala in growth chambers. In total, 238 and 225 isolates of G. cingulata were separated into four distinct morphological types and six VCGs, respectively. Five morphological types and six VCGs were identified among 74 and 36 isolates of C. gloeosporioides, respectively. Three morphological types and four VCGs were identified among 74 and 23 isolates of C. acutatum, respectively. Seven different mtDNA RFLP haplotypes were observed within isolates of G. cingulata, two within isolates of C. gloeosporioides, and two within isolates of C. acutatum. Phylogenetic trees, inferred based on maximum likelihood and maximum parsimony methods using the intron sequence, produced similar topologies. Each species was separated into distinct groups. All isolates tested were pathogenic on fruit, though only isolates with specific VCGs and haplotypes were pathogenic to leaves. Vegetative compatibility was a better tool than molecular characters for distinguishing isolates of G. cingulata pathogenic on both leaves and fruit from the ones

  8. [New etiological concepts in uveitis].

    Science.gov (United States)

    Bodaghi, B

    2005-05-01

    Uveitis remains an important cause of visual impairment, particularly in young patients. Idiopathic forms of intraocular inflammation should no longer be regarded as a presumed clinical entity, and the ophthalmologist must reconsider the specific etiology of primary uveitis when the clinical examination does not yield a definitive diagnosis or when the course of the disease on corticosteroids remains atypical. Laboratory tests based on serum analysis have limited value and should not be considered as diagnostic proof in different clinical presentations. The diagnostic management of infectious uveitis has been greatly improved by the use of molecular techniques applied to ocular fluids and tissues. Polymerase chain reaction (PCR) technology is a powerful tool that should be proposed in atypical cases of uveitis or retinitis of unclear but potentially infectious origin. This strategy is a major step before using unconventional and new immunomodulatory agents such as anti-TNF-alpha molecules. Under strict experimental conditions including adequate testing to rule out a possible contamination, PCR and its variants have changed our practical approach to intraocular inflammatory disorders and have provided new details for the understanding of infectious uveitis. The concept of pathogen-induced intraocular inflammation can be revisited in the light of molecular data obtained after anterior chamber paracentesis or diagnostic vitrectomy.

  9. Burning mouth syndrome: etiology.

    Science.gov (United States)

    Cerchiari, Dafne Patrícia; de Moricz, Renata Dutra; Sanjar, Fernanda Alves; Rapoport, Priscila Bogar; Moretti, Giovana; Guerra, Marja Michelin

    2006-01-01

    The Burning Mouth Syndrome (BMS) is an oral mucosa pain--with or without inflammatory signs--without any specific lesion. It is mostly observed in women aged 40-60 years. This pain feels like a moderate/severe burning, and it occurs more frequently on the tongue, but it may also be felt at the gingiva, lips and jugal mucosa. It may worsen during the day, during stress and fatigue, when the patient speaks too much, or through eating of spicy/hot foods. The burning can be diminished with cold food, work and leisure. The goal of this review article is to consider possible BMS etiologies and join them in 4 groups to be better studied: local, systemic, emotional and idiopathic causes of pain. Knowing the different diagnoses of this syndrome, we can establish a protocol to manage these patients. Within the local pain group, we must investigate dental, allergic and infectious causes. Concerning systemic causes we need to look for connective tissue diseases, endocrine disorders, neurological diseases, nutritional deficits and salivary glands alterations that result in xerostomia. BMS etiology may be of difficult diagnosis, many times showing more than one cause for oral pain. A detailed interview, general physical examination, oral cavity and oropharynx inspection, and lab exams are essential to avoid a try and error treatment for these patients.

  10. Comprehensive molecular diagnosis of 67 Chinese Usher syndrome probands: high rate of ethnicity specific mutations in Chinese USH patients.

    Science.gov (United States)

    Jiang, Lichun; Liang, Xiaofang; Li, Yumei; Wang, Jing; Zaneveld, Jacques Eric; Wang, Hui; Xu, Shan; Wang, Keqing; Wang, Binbin; Chen, Rui; Sui, Ruifang

    2015-09-04

    comprehensive genetic characterization of a large collection of Chinese USH patients. Up to 90 % of USH patients have disease caused by mutations in known USH disease genes. By combining NGS-based molecular diagnosis and patient clinical information, a more accurate diagnosis, prognosis and personalized treatment of USH patients can be achieved.

  11. Epigenetic Etiology of Intellectual Disability.

    Science.gov (United States)

    Iwase, Shigeki; Bérubé, Nathalie G; Zhou, Zhaolan; Kasri, Nael Nadif; Battaglioli, Elena; Scandaglia, Marilyn; Barco, Angel

    2017-11-08

    Intellectual disability (ID) is a prevailing neurodevelopmental condition associated with impaired cognitive and adaptive behaviors. Many chromatin-modifying enzymes and other epigenetic regulators have been genetically associated with ID disorders (IDDs). Here we review how alterations in the function of histone modifiers, chromatin remodelers, and methyl-DNA binding proteins contribute to neurodevelopmental defects and altered brain plasticity. We also discuss how progress in human genetics has led to the generation of mouse models that unveil the molecular etiology of ID, and outline the direction in which this field is moving to identify therapeutic strategies for IDDs. Importantly, because the chromatin regulators linked to IDDs often target common downstream genes and cellular processes, the impact of research in individual syndromes goes well beyond each syndrome and can also contribute to the understanding and therapy of other IDDs. Furthermore, the investigation of these disorders helps us to understand the role of chromatin regulators in brain development, plasticity, and gene expression, thereby answering fundamental questions in neurobiology. Copyright © 2017 the authors 0270-6474/17/3710773-10$15.00/0.

  12. Etiology, evaluation, and management of xerostomia.

    Science.gov (United States)

    Millsop, Jillian W; Wang, Elizabeth A; Fazel, Nasim

    Xerostomia is defined as the complaint of oral dryness. It is a condition that primarily affects older adults and can have a significant negative effect on one's quality of life. Patients with xerostomia often do not have objective signs of hyposalivation. The underlying etiology of xerostomia includes a variety of systemic diseases and local factors. Our aim is to provide a comprehensive review of the differential diagnosis, evaluation, and management of xerostomia. Prompt diagnosis and management can alleviate the clinical manifestations of this debilitating condition. Copyright © 2017 Elsevier Inc. All rights reserved.

  13. Professional liability. Etiology.

    Science.gov (United States)

    White, K C

    1988-03-01

    Once again, I find Mr. Cooper quote-worthy for his statement, "It is incumbent upon the trial bar not to support the status quo merely because it is in our economic interest. Change is in the wind, and our tort system will be blown away on the winds of change for change's sake unless we participate in correcting deficiencies in the tort system and civil jury trial process." I suggest that we cannot ask for change for our own economic interest, nor can we lay blame exclusively to the other etiologic elements. We must improve those elements within our purview. The prayer of serenity may serve us well: God, grant me the serenity to accept the things I cannot change, the courage to change the things I can, and the wisdom to know the difference. In the game of professional liability litigation as played by the rules extant there are clearly winners and losers. The winners are the legal profession, both plaintiff and defense, and the insurers, who in the face of adversity simply increase premiums or withdraw from the market. The losers are the medical profession, the patients for whom they care and, in the broadest sense, our society as a whole. So as not to close on a note of gloom, one last quote. Lawrence H. Cooke, former Chief Judge of New York State, in remarks to the April 1986 National Symposium on Civil Justice Issues stated, "Our justice systems are beset with very real problems.(ABSTRACT TRUNCATED AT 250 WORDS)

  14. A Comprehensive Experiment for Molecular Biology: Determination of Single Nucleotide Polymorphism in Human REV3 Gene Using PCR-RFLP

    Science.gov (United States)

    Zhang, Xu; Shao, Meng; Gao, Lu; Zhao, Yuanyuan; Sun, Zixuan; Zhou, Liping; Yan, Yongmin; Shao, Qixiang; Xu, Wenrong; Qian, Hui

    2017-01-01

    Laboratory exercise is helpful for medical students to understand the basic principles of molecular biology and to learn about the practical applications of molecular biology. We have designed a lab course on molecular biology about the determination of single nucleotide polymorphism (SNP) in human REV3 gene, the product of which is a subunit of…

  15. STUDY ON ETIOLOGY OF ASCITES

    Directory of Open Access Journals (Sweden)

    Konatham

    2015-07-01

    Full Text Available In this study 100 cases of ascites, evaluated for the etiological causes. And observed as cirrhosis with portal hypertension 82%, heart failure 8%, chronic kidney disease 3%, nephritic syndrome 2%, peritoneal calcinomatosis 2%, chronic pancreatitis 1% por tal vein thrombosis 1%, Budd - chiari syndrome 1%. AIM OF THE STUDY: To study the various etiologies and their incidence of Ascites.

  16. Comprehensive Characterization of HIV-1 Molecular Epidemiology and Demographic History in the Brazilian Region Most Heavily Affected by AIDS.

    Science.gov (United States)

    Gräf, Tiago; Machado Fritsch, Hegger; de Medeiros, Rúbia Marília; Maletich Junqueira, Dennis; Esteves de Matos Almeida, Sabrina; Pinto, Aguinaldo Roberto

    2016-09-15

    The high incidence of AIDS cases and the dominance of HIV-1 subtype C infections are two features that distinguish the HIV-1 epidemic in the two southernmost Brazilian states (Rio Grande do Sul [RS] and Santa Catarina [SC]) from the epidemic in other parts of the country. Nevertheless, previous studies on HIV molecular epidemiology were conducted mainly in capital cities, and a more comprehensive understanding of factors driving this unique epidemic in Brazil is necessary. Blood samples were collected from individuals in 13 municipalities in the Brazilian southern region. HIV-1 env and pol genes were submitted to phylogenetic analyses for assignment of subtype, and viral population phylodynamics were reconstructed by applying Skygrid and logistic coalescent models in a Bayesian analysis. A high prevalence of subtype C was observed in all sampled locations; however, an increased frequency of recombinant strains was found in RS, with evidence for new circulating forms (CRFs). In the SC state, subtype B and C epidemics were associated with distinct exposure groups. Although logistic models estimated similar growth rates for HIV-1 subtype C (HIV-1C) and HIV-1B, a Skygrid plot reveals that the former epidemic has been expanding for a longer time. Our results highlight a consistent expansion of HIV-1C in south Brazil, and we also discuss how heterosexual and men who have sex with men (MSM) transmission chains might have impacted the current prevalence of HIV-1 subtypes in this region. The AIDS epidemic in south Brazil is expanding rapidly, but the circumstances driving this condition are not well known. A high prevalence of HIV-1 subtype C was reported in the capital cities of this region, in contrast to the subtype B dominance in the rest of the country. This study sought to comparatively investigate the HIV-1 subtype B and C epidemics by sampling individuals from several cities in the two states with the highest AIDS incidences in Brazil. Our analyses showed distinct

  17. [Etiology of adult insomnia].

    Science.gov (United States)

    Dollander, M

    2002-01-01

    In the article, the author develops an analysis of external and intrapsychic factors related to adults' insomnia. First she undertakes a literature review to describe semiological, evolutive and etiological levels of insomnia. From a semiological point of view, it is usual to differenciate initial insomnia (associated to the first phase of sleeping), intermittent insomnia (related to frequent awakenings) and final insomnia (related to early morning awakenings). From an evolutive point of view, we can identify transitory insomnia (characterized by frequent awakenings) and chronic insomnia. On the other hand, we are allowed to distinguish organic insomnia (disorder where an organic cerebral injury is demonstrated or suspected) from insomnias related to psychiatric or somatic disease or idiopathic one. Then, the author makes a literary review to identify various insomnia causes and points out. Social factors: insomnia rates are higher by divorced, separated or widowed people. Percentages are higher when scholastic level is weak, domestic income is less then 915 O a month, or by unemployed people. Besides, sleep quality is deteriorated by ageing. Sleeping and waking rhythm is able to loose its synchronization. Complaints about insomnia occur far frequently from women than men. Environmental factors: working constraints increase sleep disorders. It is possible to make the same conclusion when we have to face overcharge of external events, deep intrapsychic conflicts (related to grief, unemployment, damage or hospitalization) or interpersonal conflicts' situations where we are confronted to stress related to socio-affective environment, lack of social support or conjugal difficulties. Medical and physiologic causes: legs impatience syndrome, recurrent limbs shakings syndrome, breathe stop during sleep, narcolepsy, excessive medicine or hypnotic drugs use, some central nervous system injuries, every nocturnal awakening (related to aches.), surgical operation

  18. Infertility etiologies are genetically and clinically linked with other diseases in single meta-diseases.

    Science.gov (United States)

    Tarín, Juan J; García-Pérez, Miguel A; Hamatani, Toshio; Cano, Antonio

    2015-04-15

    The present review aims to ascertain whether different infertility etiologies share particular genes and/or molecular pathways with other pathologies and are associated with distinct and particular risks of later-life morbidity and mortality. In order to reach this aim, we use two different sources of information: (1) a public web server named DiseaseConnect ( http://disease-connect.org ) focused on the analysis of common genes and molecular mechanisms shared by diseases by integrating comprehensive omics and literature data; and (2) a literature search directed to find clinical comorbid relationships of infertility etiologies with only those diseases appearing after infertility is manifested. This literature search is performed because DiseaseConnect web server does not discriminate between pathologies emerging before, concomitantly or after infertility is manifested. Data show that different infertility etiologies not only share particular genes and/or molecular pathways with other pathologies but they have distinct clinical relationships with other diseases appearing after infertility is manifested. In particular, (1) testicular and high-grade prostate cancer in male infertility; (2) non-fatal stroke and endometrial cancer, and likely non-fatal coronary heart disease and ovarian cancer in polycystic ovary syndrome; (3) osteoporosis, psychosexual dysfunction, mood disorders and dementia in premature ovarian failure; (4) breast and ovarian cancer in carriers of BRCA1/2 mutations in diminished ovarian reserve; (5) clear cell and endometrioid histologic subtypes of invasive ovarian cancer, and likely low-grade serous invasive ovarian cancer, melanoma and non-Hodgkin lymphoma in endometriosis; and (6) endometrial and ovarian cancer in idiopathic infertility. The present data endorse the principle that the occurrence of a disease (in our case infertility) is non-random in the population and suggest that different infertility etiologies are genetically and clinically

  19. The Etiology of Primary Hyperhidrosis

    DEFF Research Database (Denmark)

    Hashmonai, Moshe; Cameron, Alan E.P.; Connery, Cliff P.

    2017-01-01

    of patients with hyperhidrosis has been reported. Conclusions: Despite these accumulated data, the etiology of primary hyperhidrosis remains obscure. Nevertheless, three main lines for future research seem to be delineated: genetics, histological observations, and enzymatic studies.......Purpose: Primary hyperhidrosis is a pathological disorder of unknown etiology, affecting 0.6-5% of the population, and causing severe functional and social handicaps. As the etiology is unknown, it is not possible to treat the root cause. Recently some differences between affected and non......-affected people have been reported. The aim of this review is to summarize these new etiological data. Methods: Search of the literature was performed in the PubMed/Medline Database and pertinent articles were retrieved and reviewed. Additional publications were obtained from the references of these articles...

  20. The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine.

    Science.gov (United States)

    Stenson, Peter D; Mort, Matthew; Ball, Edward V; Shaw, Katy; Phillips, Andrew; Cooper, David N

    2014-01-01

    The Human Gene Mutation Database (HGMD®) is a comprehensive collection of germline mutations in nuclear genes that underlie, or are associated with, human inherited disease. By June 2013, the database contained over 141,000 different lesions detected in over 5,700 different genes, with new mutation entries currently accumulating at a rate exceeding 10,000 per annum. HGMD was originally established in 1996 for the scientific study of mutational mechanisms in human genes. However, it has since acquired a much broader utility as a central unified disease-oriented mutation repository utilized by human molecular geneticists, genome scientists, molecular biologists, clinicians and genetic counsellors as well as by those specializing in biopharmaceuticals, bioinformatics and personalized genomics. The public version of HGMD (http://www.hgmd.org) is freely available to registered users from academic institutions/non-profit organizations whilst the subscription version (HGMD Professional) is available to academic, clinical and commercial users under license via BIOBASE GmbH.

  1. Can we better predict the biologic behavior of incidental IPMN? A comprehensive analysis of molecular diagnostics and biomarkers in intraductal papillary mucinous neoplasms of the pancreas.

    Science.gov (United States)

    Tulla, Kiara A; Maker, Ajay V

    2018-03-01

    Predicting the biologic behavior of intraductal papillary mucinous neoplasm (IPMN) remains challenging. Current guidelines utilize patient symptoms and imaging characteristics to determine appropriate surgical candidates. However, the majority of resected cysts remain low-risk lesions, many of which may be feasible to have under surveillance. We herein characterize the most promising and up-to-date molecular diagnostics in order to identify optimal components of a molecular signature to distinguish levels of IPMN dysplasia. A comprehensive systematic review of pertinent literature, including our own experience, was conducted based on the PRISMA guidelines. Molecular diagnostics in IPMN patient tissue, duodenal secretions, cyst fluid, saliva, and serum were evaluated and organized into the following categories: oncogenes, tumor suppressor genes, glycoproteins, markers of the immune response, proteomics, DNA/RNA mutations, and next-generation sequencing/microRNA. Specific targets in each of these categories, and in aggregate, were identified by their ability to both characterize a cyst as an IPMN and determine the level of cyst dysplasia. Combining molecular signatures with clinical and imaging features in this era of next-generation sequencing and advanced computational analysis will enable enhanced sensitivity and specificity of current models to predict the biologic behavior of IPMN.

  2. An etiological model of perfectionism.

    Directory of Open Access Journals (Sweden)

    Gayle K Maloney

    Full Text Available OBJECTIVE: Perfectionism has been recognized as a transdiagnostic factor that is relevant to anxiety disorders, eating disorders and depression. Despite the importance of perfectionism in psychopathology to date there has been no empirical test of an etiological model of perfectionism. METHOD: The present study aimed to address the paucity of research on the etiology of perfectionism by developing and testing an etiological model using a sample of 311 clients seeking treatment. RESULTS: Structural equation modeling showed a direct relationship between high Parental Expectations and Criticism, and Perfectionism. There was also an indirect relationship between Parental Bonding and Perfectionism that was mediated by core schemas of disconnection and rejection. Finally, it was found that Neuroticism had both an indirect relationship, which was mediated by core schemas, and a direct relationship with perfectionism. CONCLUSIONS: The study provided the first direct test of an etiological model of perfectionism to date. Clinical implications include investigating whether the inclusion of etiological factors in the understanding and treatment of perfectionism is effective.

  3. Current Molecular Targeted Therapy in Advanced Gastric Cancer: A Comprehensive Review of Therapeutic Mechanism, Clinical Trials, and Practical Application

    Directory of Open Access Journals (Sweden)

    Kaichun Li

    2016-01-01

    Full Text Available Despite the great progress in the treatment of gastric cancer, it is still the third leading cause of cancer death worldwide. Patients often miss the opportunity for a surgical cure, because the cancer has already developed into advanced cancer when identified. Compared to best supportive care, chemotherapy can improve quality of life and prolong survival time, but the overall survival is often short. Due to the molecular study of gastric cancer, new molecular targeted drugs have entered the clinical use. Trastuzumab, an antibody targeting human epidermal growth factor receptor 2 (HER2, can significantly improve survival in advanced gastric cancer patients with HER2 overexpression. Second-line treatment of advanced gastric cancer with ramucirumab, an antibody targeting VEGFR-2, alone or in combination with paclitaxel, has been proved to provide a beneficial effect. The VEGFR-2 tyrosine kinase inhibitor, apatinib, can improve the survival of advanced gastric cancer patients after second-line chemotherapy failure. Unfortunately, none of the EGFR targeting antibodies (cetuximab or panitumumab, VEGF targeting monoclonal antibodies (bevacizumab, mTOR inhibitor (everolimus, or HGF/MET pathway targeting drugs has a significant survival benefit. Many other clinical trials based on molecular markers are underway. This review will summarize targeted therapies for advanced gastric cancer.

  4. Etiological aspects of double monsters.

    Science.gov (United States)

    Jaschevatzky, O E; Goldman, B; Kampf, D; Wexler, H; Grünstein, S

    1980-06-01

    Four cases of double monsters are reported, including a rare case of craniofacial duplication (diprosopus). Based on the findings observed, etiological factors of these malformations are discussed. We suggest that exogenous (environmental) factors such as habits, way of life or religious practices of certain populations can influence the development of double monsters.

  5. The etiology of thyroid tumours

    International Nuclear Information System (INIS)

    Bellabarba, Diego

    1983-01-01

    The etiology of thyroid tumors is a complex subject, complicated by the fact that these tumors are not one entity, but separate neoplasms with different histology, evolution and prognosis. The recognized etiological factors of thyroid cancer include the iodine content of the diet, the inheritance, racial predispositions, the presence of an autoimmune thyroiditis and mostly, the exposure of the thyroid gland to external radiation following radiotherapy. The role played by these factors varies from one type of tumor to another. Thyroid radiation probably represents the most important factor in the development of a papillary carcinoma, with other factors (iodine-rich diet, inheritance, racial predispositions) having a minor role. The follicular carcinoma is more common in regions with low-iodine diet, therefore suggesting that TSH stimulation could be an etiological factor of these tumors. Thyroid radiation may also be carcinogenic for follicular carcinoma although less than for papillary carcinoma. Anaplastic carcinoma appears to originate from a papillary carcinoma already in the thyroid gland. In medullary carcinoma, inheritance plays a major role (autosomal dominant) and lymphomas occur in thyroids already affected by autoimmune thyroiditis. Recent experimental studies have suggested other possible cellular factors as responsible for the development of thyroid tumors. They include an alteration of the responsivity of TSH cellular receptors and the monoclonal mutation of C-cells. These new factors could provide a new insight on the etiology of thyroid tumors

  6. Occupational diseases of dust etiology

    International Nuclear Information System (INIS)

    Sokolik, L.I.; Shkondin, A.N.

    1981-01-01

    Detailed etiologic and clinico-roentgenological characteristics of pneumoconiosis, as widely spread occupational disease caused by different kinds of dust, are given. The course of pneumoconiosis is discussed depending on working conditions of patients after the disease had been ascertained, as well as its complications, taking into account roentgeno-morphological types of fibrosis and the stages of the disease [ru

  7. Etiology of hearing loss in children.

    Directory of Open Access Journals (Sweden)

    José Ignacio BENITO-OREJAS

    2017-06-01

    Full Text Available Introduction and objective: The neonatal hearing loss is one of the most common disabilities, with lifelong implications for the child and his family. The implementation of the universal newborn hearing screening and the development in molecular medicine, genetic and integrative neuroscience has perfected the early diagnosis of the hearing loss children and consequently its intervention. With this work, we want to clarify the audiological aspects and causes of the permanent hearing loss diagnosed during the past 20 years. Method: We reviewed retrospectively the records of the children diagnosed with less than 3 years of age of permanent hearing loss, during the period 1994-2015, in a tertiary center. Evaluate the time of home, laterality, type and degree of hearing loss. Depending on the background, genetic testing and other complementary explorations, we present the results of our diagnostic study. Results: In the study-population (n = 183, 71% of the permanent hearing loss > 30 dB HL was diagnosed at birth (congenital. Its main features are the bilaterality (81%, the predominance sensorineural (85% and the grade profound (42% or moderate (30%, more prevalent in the unilateral forms. About the etiologic diagnosis, a 47% of the cases are of origin genetic (29% of which are syndromic, a 25% of cause environmental and a 28% unknown. Discussion: Our results are consistent for the generally accepted distribution of causes, but there are discrepancies in the literature. Despite the different tests used, we had to infer the etiology in 62% of children with hearing loss, finally unknown by 28%. Conclusions: We consider fundamental the monitoring for a consensus standardized etiological protocol that orient in the diagnostic process of hearing loss in children.

  8. The relationships within the Chaitophorinae and Drepanosiphinae (Hemiptera, Aphididae) inferred from molecular-based phylogeny and comprehensive morphological data

    Science.gov (United States)

    Wieczorek, Karina; Lachowska-Cierlik, Dorota; Kajtoch, Łukasz; Kanturski, Mariusz

    2017-01-01

    The Chaitophorinae is a bionomically diverse Holarctic subfamily of Aphididae. The current classification includes two tribes: the Chaitophorini associated with deciduous trees and shrubs, and Siphini that feed on monocotyledonous plants. We present the first phylogenetic hypothesis for the subfamily, based on molecular and morphological datasets. Molecular analyses were based on the mitochondrial gene cytochrome oxidase subunit I (COI) and the nuclear gene elongation factor-1α (EF-1α). Phylogenetic inferences were obtained individually on each of genes and joined alignments using Bayesian inference (BI) and Maximum likelihood (ML). In phylogenetic trees reconstructed on the basis of nuclear and mitochondrial genes as well as a morphological dataset, the monophyly of Siphini and the genus Chaitophorus was supported. Periphyllus forms independent lineages from Chaitophorus and Siphini. Within this genus two clades comprising European and Asiatic species, respectively, were indicated. Concerning relationships within the subfamily, EF-1α and joined COI and EF-1α genes analysis strongly supports the hypothesis that Chaitophorini do not form a monophyletic clade. Periphyllus is a sister group to a clade containing Chaitophorus and Siphini. The Asiatic unit of Periphyllus also includes Trichaitophorus koyaensis. The analysis of morphological dataset under equally weighted parsimony also supports the view that Chaitophorini is an artificial taxon, as Lambersaphis pruinosae and Pseudopterocomma hughi, both traditionally included in the Chaitophorini, formed independent lineages. COI analyses support consistent groups within the subfamily, but relationships between groups are poorly resolved. These analyses were extended to include the species of closely related and phylogenetically unstudied subfamily Drepanosiphinae, which produced congruent results. Genera Drepanosiphum and Depanaphis are monophyletic and sister. The position of Yamatocallis tokyoensis differs in the

  9. Massively parallel sequencing, aCGH, and RNA-Seq technologies provide a comprehensive molecular diagnosis of Fanconi anemia.

    Science.gov (United States)

    Chandrasekharappa, Settara C; Lach, Francis P; Kimble, Danielle C; Kamat, Aparna; Teer, Jamie K; Donovan, Frank X; Flynn, Elizabeth; Sen, Shurjo K; Thongthip, Supawat; Sanborn, Erica; Smogorzewska, Agata; Auerbach, Arleen D; Ostrander, Elaine A

    2013-05-30

    Current methods for detecting mutations in Fanconi anemia (FA)-suspected patients are inefficient and often miss mutations. We have applied recent advances in DNA sequencing and genomic capture to the diagnosis of FA. Specifically, we used custom molecular inversion probes or TruSeq-enrichment oligos to capture and sequence FA and related genes, including introns, from 27 samples from the International Fanconi Anemia Registry at The Rockefeller University. DNA sequencing was complemented with custom array comparative genomic hybridization (aCGH) and RNA sequencing (RNA-seq) analysis. aCGH identified deletions/duplications in 4 different FA genes. RNA-seq analysis revealed lack of allele specific expression associated with a deletion and splicing defects caused by missense, synonymous, and deep-in-intron variants. The combination of TruSeq-targeted capture, aCGH, and RNA-seq enabled us to identify the complementation group and biallelic germline mutations in all 27 families: FANCA (7), FANCB (3), FANCC (3), FANCD1 (1), FANCD2 (3), FANCF (2), FANCG (2), FANCI (1), FANCJ (2), and FANCL (3). FANCC mutations are often the cause of FA in patients of Ashkenazi Jewish (AJ) ancestry, and we identified 2 novel FANCC mutations in 2 patients of AJ ancestry. We describe here a strategy for efficient molecular diagnosis of FA.

  10. Comprehensive Transcriptome Study to Develop Molecular Resources of the Copepod Calanus sinicus for Their Potential Ecological Applications

    Science.gov (United States)

    Yang, Qing; Sun, Fanyue; Yang, Zhi; Li, Hongjun

    2014-01-01

    Calanus sinicus Brodsky (Copepoda, Crustacea) is a dominant zooplanktonic species widely distributed in the margin seas of the Northwest Pacific Ocean. In this study, we utilized an RNA-Seq-based approach to develop molecular resources for C. sinicus. Adult samples were sequenced using the Illumina HiSeq 2000 platform. The sequencing data generated 69,751 contigs from 58.9 million filtered reads. The assembled contigs had an average length of 928.8 bp. Gene annotation allowed the identification of 43,417 unigene hits against the NCBI database. Gene ontology (GO) and KEGG pathway mapping analysis revealed various functional genes related to diverse biological functions and processes. Transcripts potentially involved in stress response and lipid metabolism were identified among these genes. Furthermore, 4,871 microsatellites and 110,137 single nucleotide polymorphisms (SNPs) were identified in the C. sinicus transcriptome sequences. SNP validation by the melting temperature (T m)-shift method suggested that 16 primer pairs amplified target products and showed biallelic polymorphism among 30 individuals. The present work demonstrates the power of Illumina-based RNA-Seq for the rapid development of molecular resources in nonmodel species. The validated SNP set from our study is currently being utilized in an ongoing ecological analysis to support a future study of C. sinicus population genetics. PMID:24982883

  11. Comprehensive Care

    Science.gov (United States)

    ... Comprehensive Care Share this page Facebook Twitter Email Comprehensive Care Understand the importance of comprehensive MS care ... In this article A complex disease requires a comprehensive approach Today multiple sclerosis (MS) is not a ...

  12. Present status of understanding on the genetic etiology of polycystic ovary syndrome.

    Science.gov (United States)

    Dasgupta, S; Reddy, B Mohan

    2008-01-01

    Polycystic ovary syndrome (PCOS) is the most common endocrinopathy in women of reproductive age with a prevalence of approximately 7-10% worldwide. PCOS reflects multiple potential aetiologies and variable clinical manifestations. This syndrome is characterized by serious health implications such as diabetes, coronary heart diseases and cancer and also leads to infertility. PCOS can be viewed as a heterogeneous androgen excess disorder with varying degrees of reproductive and metabolic abnormalities determined by the interaction of multiple genetic and environmental factors. In this paper, we have attempted a comprehensive review of primarily molecular genetic studies done so far on PCOS. We have also covered the studies focusing on the environmental factors and impact of ethnicity on the presentation of this syndrome. A large number of studies have been attempted to understand the aetiological mechanisms behind PCOS both at the clinical and molecular genetic levels. In the Indian context, majority of the PCOS studies have been confined to the clinical dimensions. However, a concrete genetic mechanism behind the manifestation of PCOS is yet to be ascertained. Understanding of this complex disorder requires comprehensive studies incorporating relatively larger homogenous samples for genetic analysis and taking into account the ethnicity and the environmental conditions of the population/cohort under study. Research focused on these aspects may provide better understanding on the genetic etiology and the interaction between genes and environment, which may help develop new treatment methods and possible prevention of the syndrome.

  13. Present status of understanding on the genetic etiology of polycystic ovary syndrome

    Directory of Open Access Journals (Sweden)

    Dasgupta S

    2008-01-01

    Full Text Available Polycystic ovary syndrome (PCOS is the most common endocrinopathy in women of reproductive age with a prevalence of approximately 7-10% worldwide. PCOS reflects multiple potential aetiologies and variable clinical manifestations. This syndrome is characterized by serious health implications such as diabetes, coronary heart diseases and cancer and also leads to infertility. PCOS can be viewed as a heterogeneous androgen excess disorder with varying degrees of reproductive and metabolic abnormalities determined by the interaction of multiple genetic and environmental factors. In this paper, we have attempted a comprehensive review of primarily molecular genetic studies done so far on PCOS. We have also covered the studies focusing on the environmental factors and impact of ethnicity on the presentation of this syndrome. A large number of studies have been attempted to understand the aetiological mechanisms behind PCOS both at the clinical and molecular genetic levels. In the Indian context, majority of the PCOS studies have been confined to the clinical dimensions. However, a concrete genetic mechanism behind the manifestation of PCOS is yet to be ascertained. Understanding of this complex disorder requires comprehensive studies incorporating relatively larger homogenous samples for genetic analysis and taking into account the ethnicity and the environmental conditions of the population/cohort under study. Research focused on these aspects may provide better understanding on the genetic etiology and the interaction between genes and environment, which may help develop new treatment methods and possible prevention of the syndrome.

  14. A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling.

    Science.gov (United States)

    Wieczorek, Dagmar; Bögershausen, Nina; Beleggia, Filippo; Steiner-Haldenstätt, Sabine; Pohl, Esther; Li, Yun; Milz, Esther; Martin, Marcel; Thiele, Holger; Altmüller, Janine; Alanay, Yasemin; Kayserili, Hülya; Klein-Hitpass, Ludger; Böhringer, Stefan; Wollstein, Andreas; Albrecht, Beate; Boduroglu, Koray; Caliebe, Almuth; Chrzanowska, Krystyna; Cogulu, Ozgur; Cristofoli, Francesca; Czeschik, Johanna Christina; Devriendt, Koenraad; Dotti, Maria Teresa; Elcioglu, Nursel; Gener, Blanca; Goecke, Timm O; Krajewska-Walasek, Malgorzata; Guillén-Navarro, Encarnación; Hayek, Joussef; Houge, Gunnar; Kilic, Esra; Simsek-Kiper, Pelin Özlem; López-González, Vanesa; Kuechler, Alma; Lyonnet, Stanislas; Mari, Francesca; Marozza, Annabella; Mathieu Dramard, Michèle; Mikat, Barbara; Morin, Gilles; Morice-Picard, Fanny; Ozkinay, Ferda; Rauch, Anita; Renieri, Alessandra; Tinschert, Sigrid; Utine, G Eda; Vilain, Catheline; Vivarelli, Rossella; Zweier, Christiane; Nürnberg, Peter; Rahmann, Sven; Vermeesch, Joris; Lüdecke, Hermann-Josef; Zeschnigk, Michael; Wollnik, Bernd

    2013-12-20

    Chromatin remodeling complexes are known to modify chemical marks on histones or to induce conformational changes in the chromatin in order to regulate transcription. De novo dominant mutations in different members of the SWI/SNF chromatin remodeling complex have recently been described in individuals with Coffin-Siris (CSS) and Nicolaides-Baraitser (NCBRS) syndromes. Using a combination of whole-exome sequencing, NGS-based sequencing of 23 SWI/SNF complex genes, and molecular karyotyping in 46 previously undescribed individuals with CSS and NCBRS, we identified a de novo 1-bp deletion (c.677delG, p.Gly226Glufs*53) and a de novo missense mutation (c.914G>T, p.Cys305Phe) in PHF6 in two individuals diagnosed with CSS. PHF6 interacts with the nucleosome remodeling and deacetylation (NuRD) complex implicating dysfunction of a second chromatin remodeling complex in the pathogenesis of CSS-like phenotypes. Altogether, we identified mutations in 60% of the studied individuals (28/46), located in the genes ARID1A, ARID1B, SMARCB1, SMARCE1, SMARCA2, and PHF6. We show that mutations in ARID1B are the main cause of CSS, accounting for 76% of identified mutations. ARID1B and SMARCB1 mutations were also found in individuals with the initial diagnosis of NCBRS. These individuals apparently belong to a small subset who display an intermediate CSS/NCBRS phenotype. Our proposed genotype-phenotype correlations are important for molecular screening strategies.

  15. Comprehensive analysis of CpG island methylator phenotype (CIMP)-high, -low, and -negative colorectal cancers based on protein marker expression and molecular features.

    Science.gov (United States)

    Zlobec, Inti; Bihl, Michel; Foerster, Anja; Rufle, Alex; Lugli, Alessandro

    2011-11-01

    CpG island methylator phenotype (CIMP) is being investigated for its role in the molecular and prognostic classification of colorectal cancer patients but is also emerging as a factor with the potential to influence clinical decision-making. We report a comprehensive analysis of clinico-pathological and molecular features (KRAS, BRAF and microsatellite instability, MSI) as well as of selected tumour- and host-related protein markers characterizing CIMP-high (CIMP-H), -low, and -negative colorectal cancers. Immunohistochemical analysis for 48 protein markers and molecular analysis of CIMP (CIMP-H: ≥ 4/5 methylated genes), MSI (MSI-H: ≥ 2 instable genes), KRAS, and BRAF were performed on 337 colorectal cancers. Simple and multiple regression analysis and receiver operating characteristic (ROC) curve analysis were performed. CIMP-H was found in 24 cases (7.1%) and linked (p CIMP-low or -negative cases. Of the 48 protein markers, decreased levels of RKIP (p = 0.0056), EphB2 (p = 0.0045), CK20 (p = 0.002), and Cdx2 (p CIMP-H, independently of MSI status. In addition to the expected clinico-pathological and molecular associations, CIMP-H colorectal cancers are characterized by a loss of protein markers associated with differentiation, and metastasis suppression, and have increased CD8+ T-lymphocytes regardless of MSI status. In particular, Cdx2 loss seems to strongly predict CIMP-H in both microsatellite-stable (MSS) and MSI-H colorectal cancers. Cdx2 is proposed as a surrogate marker for CIMP-H. Copyright © 2011 Pathological Society of Great Britain and Ireland. Published by John Wiley & Sons, Ltd.

  16. A comprehensive review of amyotrophic lateral sclerosis

    Science.gov (United States)

    Zarei, Sara; Carr, Karen; Reiley, Luz; Diaz, Kelvin; Guerra, Orleiquis; Altamirano, Pablo Fernandez; Pagani, Wilfredo; Lodin, Daud; Orozco, Gloria; Chinea, Angel

    2015-01-01

    Amyotrophic lateral sclerosis (ALS) is a late-onset fatal neurodegenerative disease affecting motor neurons with an incidence of about 1/100,000. Most ALS cases are sporadic, but 5–10% of the cases are familial ALS. Both sporadic and familial ALS (FALS) are associated with degeneration of cortical and spinal motor neurons. The etiology of ALS remains unknown. However, mutations of superoxide dismutase 1 have been known as the most common cause of FALS. In this study, we provide a comprehensive review of ALS. We cover all aspects of the disease including epidemiology, comorbidities, environmental risk factor, molecular mechanism, genetic factors, symptoms, diagnostic, treatment, and even the available supplement and management of ALS. This will provide the reader with an advantage of receiving a broad range of information about the disease. PMID:26629397

  17. Interaction mechanisms between organic UV filters and bovine serum albumin as determined by comprehensive spectroscopy exploration and molecular docking.

    Science.gov (United States)

    Ao, Junjie; Gao, Li; Yuan, Tao; Jiang, Gaofeng

    2015-01-01

    Organic UV filters are a group of emerging PPCP (pharmaceuticals and personal care products) contaminants. Current information is insufficient to understand the in vivo processes and health risks of organic UV filters in humans. The interaction mechanism of UV filters with serum albumin provides critical information for the health risk assessment of these active ingredients in sunscreen products. This study investigates the interaction mechanisms of five commonly used UV filters (2-hydroxy-4-methoxybenzophenone, BP-3; 2-ethylhexyl 4-methoxycinnamate, EHMC; 4-methylbenzylidene camphor, 4-MBC; methoxydibenzoylmethane, BDM; homosalate, HMS) with bovine serum albumin (BSA) by spectroscopic measurements of fluorescence, circular dichroism (CD), competitive binding experiments and molecular docking. Our results indicated that the fluorescence of BSA was quenched by these UV filters through a static quenching mechanism. The values of the binding constant (Ka) ranged from (0.78±0.02)×10(3) to (1.29±0.01)×10(5) L mol(-1). Further exploration by synchronous fluorescence and CD showed that the conformation of BSA was demonstrably changed in the presence of these organic UV filters. It was confirmed that the UV filters can disrupt the α-helical stability of BSA. Moreover, the results of molecular docking revealed that the UV filter molecule is located in site II (sub-domain IIIA) of BSA, which was further confirmed by the results of competitive binding experiments. In addition, binding occurred mainly through hydrogen bonding and hydrophobic interaction. This study raises critical concerns regarding the transportation, distribution and toxicity effects of organic UV filters in human body. Copyright © 2014 Elsevier Ltd. All rights reserved.

  18. Etiology and Pathogenesis of Epithelial Ovarian Cancer

    Directory of Open Access Journals (Sweden)

    Samuel C. Mok

    2007-01-01

    Full Text Available Ovarian cancer is complex disease composed of different histological grades and types. However, the underlying molecular mechanisms involved in the development of different phenotypes remain largely unknown. Epidemiological studies identified multiple exogenous and endogenous risk factors for ovarian cancer development. Among them, an inflammatory stromal microenvironment seems to play a critical role in the initiation of the disease. The interaction between such a microenvironment, genetic polymorphisms, and different epithelial components such as endosalpingiosis, endometriosis, and ovarian inclusion cyst in the ovarian cortex may induce different genetic changes identified in the epithelial component of different histological types of ovarian tumors. Genetic studies on different histological grades and types provide insight into the pathogenetic pathways for the development of different disease phenotypes. However, the link between all these genetic changes and the etiological factors remains to be established.

  19. [Etiological diagnosis of leg ulcers].

    Science.gov (United States)

    Debure, Clélia

    2010-09-20

    Etiological diagnosis of leg ulcers must be the first step of treatment, even if we know that veinous disease is often present. We can build a clinical decisional diagram, which helps us to understand and not forget the other causes of chronic wounds and choose some basic examination, like ultrasound and histological findings. This diagnosis helps to choose the right treatment in order to cure even the oldest venous ulcers. Educational programs should be improved to prevent recurrence.

  20. ETIOLOGY OF HYPERTHYROIDISM IN PREGNANCY.

    OpenAIRE

    Fayal El Guendouz; Hicham Boussouf; Nabil Hammoune.

    2017-01-01

    Hyperthyroidism is a common endocrine disorder in young women of childbearing age. Approximately one to three cases of gestational hyperthyroidism occur per 1000 pregnancies. All etiologies of hyperthyroidism may be encountered during pregnancy but they are dominated by Graves\\\\\\' disease and gestational transient thyrotoxicosis. The first requires an antithyroid drug treatment and the second progresses well under symptomatic treatment. Hence the interest of the Establishment of the cause of ...

  1. Molecular phenotyping of multiple mouse strains under metabolic challenge uncovers a role for Elovl2 in glucose-induced insulin secretion

    Directory of Open Access Journals (Sweden)

    Céline Cruciani-Guglielmacci

    2017-04-01

    Conclusion: Our results suggest a role for Elovl2 in ensuring normal insulin secretory responses to glucose. Moreover, the large comprehensive dataset and integrative network-based approach provides a new resource to dissect the molecular etiology of β cell failure under metabolic stress.

  2. [Chronic diarrhea with uncommon etiology].

    Science.gov (United States)

    Gil Borrás, R; Juan Vidal, O; Talavera Encinas, M I; Bixquert Jiménez, M

    2005-03-01

    Chronic diarrhea is a common syndrome. An etiological diagnosis is often reached through clinical history, physical examination and simple tests. In some cases, when the etiology is not found, the syndrome is called functional diarrhea, even though established criteria are often not fulfilled. We present the case of a patient with diarrhea for several months. The most common causes were ruled out through clinical history, physical examination, radiographic studies and laboratory tests, and the patient was diagnosed with functional diarrhea. Three months later, the patient presented a neck mass, and biopsy revealed medullary carcinoma of the thyroid. A review of recommendations for the systematic evaluation of chronic diarrhea is presented. A general approach should include careful history taking characteristics of diarrhea (onset, associated symptoms, epidemiological factors, iatrogenic causes such as laxative ingestion), a thorough physical examination with special attention to the anorectal region, and routine laboratory tests (complete blood count and serum chemistry). In addition, stool analysis including electrolytes (fecal osmotic gap), leukocytes, fecal occult blood, excess stool fat and laxative screening can yield important objective information to classify the diarrhea as: osmotic (osmotic gaps > 125 mOsm/Kg), secretory (osmotic gaps diarrhea described above. A systematic approach to the evaluation of chronic diarrhea is warranted. Medullary thyroid carcinoma and other endocrine syndromes causing chronic diarrhea are very rare. Measurement of serum peptide concentrations should only be performed when clinical presentation and findings in stool or radiographic studies suggest this etiology.

  3. A comprehensive data mining study shows that most nuclear receptors act as newly proposed homeostasis-associated molecular pattern receptors.

    Science.gov (United States)

    Wang, Luqiao; Nanayakkara, Gayani; Yang, Qian; Tan, Hongmei; Drummer, Charles; Sun, Yu; Shao, Ying; Fu, Hangfei; Cueto, Ramon; Shan, Huimin; Bottiglieri, Teodoro; Li, Ya-Feng; Johnson, Candice; Yang, William Y; Yang, Fan; Xu, Yanjie; Xi, Hang; Liu, Weiqing; Yu, Jun; Choi, Eric T; Cheng, Xiaoshu; Wang, Hong; Yang, Xiaofeng

    2017-10-24

    Nuclear receptors (NRs) can regulate gene expression; therefore, they are classified as transcription factors. Despite the extensive research carried out on NRs, still several issues including (1) the expression profile of NRs in human tissues, (2) how the NR expression is modulated during atherosclerosis and metabolic diseases, and (3) the overview of the role of NRs in inflammatory conditions are not fully understood. To determine whether and how the expression of NRs are regulated in physiological/pathological conditions, we took an experimental database analysis to determine expression of all 48 known NRs in 21 human and 17 murine tissues as well as in pathological conditions. We made the following significant findings: (1) NRs are differentially expressed in tissues, which may be under regulation by oxygen sensors, angiogenesis pathway, stem cell master regulators, inflammasomes, and tissue hypo-/hypermethylation indexes; (2) NR sequence mutations are associated with increased risks for development of cancers and metabolic, cardiovascular, and autoimmune diseases; (3) NRs have less tendency to be upregulated than downregulated in cancers, and autoimmune and metabolic diseases, which may be regulated by inflammation pathways and mitochondrial energy enzymes; and (4) the innate immune sensor inflammasome/caspase-1 pathway regulates the expression of most NRs. Based on our findings, we propose a new paradigm that most nuclear receptors are anti-inflammatory homeostasis-associated molecular pattern receptors (HAMPRs). Our results have provided a novel insight on NRs as therapeutic targets in metabolic diseases, inflammations, and malignancies.

  4. Molecular portrait of breast cancer in China reveals comprehensive transcriptomic likeness to Caucasian breast cancer and low prevalence of luminal A subtype

    International Nuclear Information System (INIS)

    Huang, Xiaoyan; Dugo, Matteo; Callari, Maurizio; Sandri, Marco; De Cecco, Loris; Valeri, Barbara; Carcangiu, Maria Luisa; Xue, Jingyan; Bi, Rui; Veneroni, Silvia; Daidone, Maria Grazia; Ménard, Sylvie; Tagliabue, Elda; Shao, Zhimin; Wu, Jiong; Orlandi, Rosaria

    2015-01-01

    The recent dramatic increase in breast cancer incidence across China with progressive urbanization and economic development has signaled the urgent need for molecular and clinical detailing of breast cancer in the Chinese population. Our analyses of a unique transethnic collection of breast cancer frozen specimens from Shanghai Fudan Cancer Center (Chinese Han) profiled simultaneously with an analogous Caucasian Italian series revealed consistent transcriptomic data lacking in batch effects. The prevalence of Luminal A subtype was significantly lower in Chinese series, impacting the overall prevalence of estrogen receptor (ER)-positive disease in a large cohort of Chinese/Caucasian patients. Unsupervised and supervised comparison of gene and microRNA (miRNA) profiles of Chinese and Caucasian samples revealed extensive similarity in the comprehensive taxonomy of transcriptional elements regulating breast cancer biology. Partition of gene expression data using gene lists relevant to breast cancer as “intrinsic” and “extracellular matrix” genes identified Chinese and Caucasian subgroups with equivalent global gene and miRNA profiles. These findings indicate that in the Chinese and Caucasian groups, breast neoplasia and the surrounding stromal characteristics undergo the same differentiation and molecular processes. Transcriptional similarity across transethnic cohorts may simplify translational medicine approaches and clinical management of breast cancer patients worldwide

  5. Epidemiology, Etiology, and Treatment of Isolated Cleft Palate

    Science.gov (United States)

    Burg, Madeleine L.; Chai, Yang; Yao, Caroline A.; Magee, William; Figueiredo, Jane C.

    2016-01-01

    Isolated cleft palate (CPO) is the rarest form of oral clefting. The incidence of CPO varies substantially by geography from 1.3 to 25.3 per 10,000 live births, with the highest rates in British Columbia, Canada and the lowest rates in Nigeria, Africa. Stratified by ethnicity/race, the highest rates of CPO are observed in non-Hispanic Whites and the lowest in Africans; nevertheless, rates of CPO are consistently higher in females compared to males. Approximately fifty percent of cases born with cleft palate occur as part of a known genetic syndrome or with another malformation (e.g., congenital heart defects) and the other half occur as solitary defects, referred to often as non-syndromic clefts. The etiology of CPO is multifactorial involving genetic and environmental risk factors. Several animal models have yielded insight into the molecular pathways responsible for proper closure of the palate, including the BMP, TGF-β, and SHH signaling pathways. In terms of environmental exposures, only maternal tobacco smoke has been found to be strongly associated with CPO. Some studies have suggested that maternal glucocorticoid exposure may also be important. Clearly, there is a need for larger epidemiologic studies to further investigate both genetic and environmental risk factors and gene-environment interactions. In terms of treatment, there is a need for long-term comprehensive care including surgical, dental and speech pathology. Overall, five main themes emerge as critical in advancing research: (1) monitoring of the occurrence of CPO (capacity building); (2) detailed phenotyping of the severity (biology); (3) understanding of the genetic and environmental risk factors (primary prevention); (4) access to early detection and multidisciplinary treatment (clinical services); and (5) understanding predictors of recurrence and possible interventions among families with a child with CPO (secondary prevention). PMID:26973535

  6. Hypothyroidism: etiology, diagnosis, and management.

    Science.gov (United States)

    Almandoz, Jaime P; Gharib, Hossein

    2012-03-01

    Hypothyroidism is the result of inadequate production of thyroid hormone or inadequate action of thyroid hormone in target tissues. Primary hypothyroidism is the principal manifestation of hypothyroidism, but other causes include central deficiency of thyrotropin-releasing hormone or thyroid-stimulating hormone (TSH), or consumptive hypothyroidism from excessive inactivation of thyroid hormone. Subclinical hypothyroidism is present when there is elevated TSH but a normal free thyroxine level. Treatment involves oral administration of exogenous synthetic thyroid hormone. This review presents an update on the etiology and types of hypothyroidism, including subclinical disease; drugs and thyroid function; and diagnosis and treatment of hypothyroidism. Copyright © 2012 Elsevier Inc. All rights reserved.

  7. Intrathoracic neoplasia: Epidemiology and etiology

    Energy Technology Data Exchange (ETDEWEB)

    Weller, R.E.

    1992-05-01

    Neoplasms of the thorax encompass those derived from the thoracic wall, trachea, mediastinum, lungs and pleura. They represent a wide variety of lesions including benign and malignant tumors arising from many tissues. The large surface area, 60 to 90 m{sup 2} in man, represented by the respiratory epithelium and associated thoracic structures are ideal targets for carcinogens carried by inspired air. The topic of discussion in this report is the epidemiology, etiology, and mechanisms of spontaneous intrathoracic neoplasia in animals and man. Much of what we know or suspect about thoracic neoplasia in animals has been extrapolated from experimentally-induced neoplasms.

  8. Acute pancreatitis in five European countries: etiology and mortality.

    Science.gov (United States)

    Gullo, Lucio; Migliori, Marina; Oláh, Attila; Farkas, Gyula; Levy, Philippe; Arvanitakis, Constantine; Lankisch, Paul; Beger, Hans

    2002-04-01

    In recent years, many advances have been made in the diagnosis and treatment of acute pancreatitis that have lead to a significant reduction in both morbidity and mortality; however, knowledge of the etiology and of the relation between etiology and mortality is far from complete. To obtain a more comprehensive view of the etiology and mortality of acute pancreatitis in Europe than has been given by previous single-center studies. The study comprised 1,068 patients in five European countries who were admitted to hospitals for acute pancreatitis from January 1990 to December 1994. Data for each patient were collected on a standardized form. Of the 1,068 patients (692 men, 376 women; mean age, 52.8 years; range, 10-95 years), 589 had edematous pancreatitis, and 479 the necrotic form. Cholelithiasis (37.1%) and alcohol (41.0%) were the most frequent etiologic factors. In Germany, cholelithiasis and alcohol occurred with similar frequency (34.9 and 37.9%, respectively); in Hungary, alcohol predominates over cholelithiasis (60.7 vs. 24.0%); in France, a small predominance of alcohol was seen (38.5 vs. 24.6%); and in Greece and Italy, there was a clear predominance of cholelithiasis over alcohol (71.4 vs. 6.0% and 60.3 vs. 13.2%, respectively). The differences in the frequency of cholelithiasis and alcohol between Greece and Italy and the other countries were statistically significant (p relationship between mortality and age.

  9. A rapid NGS strategy for comprehensive molecular diagnosis of Birt-Hogg-Dubé syndrome in patients with primary spontaneous pneumothorax.

    Science.gov (United States)

    Zhang, Xinxin; Ma, Dehua; Zou, Wei; Ding, Yibing; Zhu, Chengchu; Min, Haiyan; Zhang, Bin; Wang, Wei; Chen, Baofu; Ye, Minhua; Cai, Minghui; Pan, Yanqing; Cao, Lei; Wan, Yueming; Jin, Yu; Gao, Qian; Yi, Long

    2016-05-27

    Primary spontaneous pneumothorax (PSP) or pulmonary cysts is one of the manifestations of Birt-Hogg-Dube syndrome (BHDS) that is caused by heterozygous mutations in FLCN gene. Most of the mutations are SNVs and small indels, and there are also approximately 10 % large intragenic deletions and duplications of the mutations. These molecular findings are generally obtained by disparate methods including Sanger sequencing and Multiple Ligation-dependent Probe Amplification in the clinical laboratory. In addition, as a genetically heterogeneous disorder, PSP may be caused by mutations in multiple genes include FBN1, COL3A1, CBS, SERPINA1 and TSC1/TSC2 genes. For differential diagnosis, these genes should also be screened which makes the diagnostic procedure more time-consuming and labor-intensive. Forty PSP patients were divided into 2 groups. Nineteen patients with different pathogenic mutations of FLCN previously identified by conventional Sanger sequencing and MLPA were included in test group, 21 random PSP patients without any genetic screening were included in blinded sample group. 7 PSP genes including FLCN, FBN1, COL3A1, CBS, SERPINA1 and TSC1/TSC2 were designed and enriched by Haloplex system, sequenced on a Miseq platform and analyzed in the 40 patients to evaluate the performance of the targeted-NGS method. We demonstrated that the full spectrum of genes associated with pneumothorax including FLCN gene mutations can be identified simultaneously in multiplexed sequence data. Noteworthy, by our in-house copy number analysis of the sequence data, we could not only detect intragenic deletions, but also determine approximate deletion junctions simultaneously. NGS based Haloplex target enrichment technology is proved to be a rapid and cost-effective screening strategy for the comprehensive molecular diagnosis of BHDS in PSP patients, as it can replace Sanger sequencing and MLPA by simultaneously detecting exonic and intronic SNVs, small indels, large intragenic

  10. A comprehensive comparison of four species of Onchidiidae provides insights on the morphological and molecular adaptations of invertebrates from shallow seas to wetlands

    Science.gov (United States)

    Wang, Dongfeng; Li, Jie; Liu, Xin; Wu, Xin

    2018-01-01

    The Onchidiidae family is ideal for studying the evolution of marine invertebrate species from sea to wetland environments. However, comparative studies of Onchidiidae species are rare. A total of 40 samples were collected from four species (10 specimens per onchidiid), and their histological and molecular differences were systematically evaluated to elucidate the morphological foundations underlying the adaptations of these species. A histological analysis was performed to compare the structures of respiratory organs (gill, lung sac, dorsal skin) among onchidiids, and transcriptome sequencing of four representative onchidiids was performed to investigate the molecular mechanisms associated with their respective habitats. Twenty-six SNP markers of Onchidium reevesii revealed some DNA polymorphisms determining visible traits. Non-muscle myosin heavy chain II (NMHC II) and myosin heavy chain (MyHC), which play essential roles in amphibian developmental processes, were found to be differentially expressed in different onchidiids and tissues. The species with higher terrestrial ability and increased integrated expression of Os-MHC (NMHC II gene) and the MyHC gene, illustrating that the expression levels of these genes were associated with the evolutionary degree. This study provides a comprehensive analysis of the adaptions of a diverse and widespread group of invertebrates, the Onchidiidae. Some onchidiids can breathe well through gills and skin when under seawater, and some can breathe well through lung sacs and skin when in wetlands. A histological comparison of respiratory organs and the relative expression levels of two genes provided insights into the adaptions of onchidiids that allowed their transition from shallow seas to wetlands. This work provides a valuable reference and might encourage further study. PMID:29698429

  11. Voice Disorders: Etiology and Diagnosis.

    Science.gov (United States)

    Martins, Regina Helena Garcia; do Amaral, Henrique Abrantes; Tavares, Elaine Lara Mendes; Martins, Maira Garcia; Gonçalves, Tatiana Maria; Dias, Norimar Hernandes

    2016-11-01

    Voice disorders affect adults and children and have different causes in different age groups. The aim of the study is to present the etiology and diagnosis dysphonia in a large population of patients with this voice disorder.for dysphonia of a large population of dysphonic patients. We evaluated 2019 patients with dysphonia who attended the Voice Disease ambulatories of a university hospital. Parameters assessed were age, gender, profession, associated symptoms, smoking, and videolaryngoscopy diagnoses. Of the 2019 patients with dysphonia who were included in this study, 786 were male (38.93%) and 1233 were female (61.07). The age groups were as follows: 1-6 years (n = 100); 7-12 years (n = 187); 13-18 years (n = 92); 19-39 years (n = 494); 41-60 years (n = 811); and >60 years (n = 335). Symptoms associated with dysphonia were vocal overuse (n = 677), gastroesophageal symptoms (n = 535), and nasosinusal symptoms (n = 497). The predominant professions of the patients were domestic workers, students, and teachers. Smoking was reported by 13.6% patients. With regard to the etiology of dysphonia, in children (1-18 years old), nodules (n = 225; 59.3%), cysts (n = 39; 10.3%), and acute laryngitis (n = 26; 6.8%) prevailed. In adults (19-60 years old), functional dysphonia (n = 268; 20.5%), acid laryngitis (n = 164; 12.5%), and vocal polyps (n = 156; 12%) predominated. In patients older than 60 years, presbyphonia (n = 89; 26.5%), functional dysphonia (n = 59; 17.6%), and Reinke's edema (n = 48; 14%) predominated. In this population of 2019 patients with dysphonia, adults and women were predominant. Dysphonia had different etiologies in the age groups studied. Nodules and cysts were predominant in children, functional dysphonia and reflux in adults, and presbyphonia and Reinke's edema in the elderly. Copyright © 2016 The Voice Foundation. Published by Elsevier Inc. All rights reserved.

  12. Dry eyes: etiology and management.

    Science.gov (United States)

    Latkany, Robert

    2008-07-01

    Until recently, the cause of dry eye syndrome was uncertain and the treatment was palliative. Since discovering that dry eyes are caused by inflammation, there has been an abundance of research focusing on anti-inflammatory therapies, other contributing causes, and better diagnostic testing. This review summarizes some of the interesting published research on ocular surface disease over the past year. The definition of dry eye now highlights the omnipresent symptom of blurry vision. The re-evaluation of ocular surface staining, tear meniscus height, and visual change will allow for a better diagnosis and understanding of dry eyes. Punctal plugs, and oral and topical anti-inflammatory use will strengthen our arsenal against ocular surface disease. Major progress has occurred in the past few years in gaining a better understanding of the etiology of dry eye syndrome, which will inevitably lead to more effective therapeutic options.

  13. Etiological factors of psoas abscesses

    Directory of Open Access Journals (Sweden)

    Mehmet Nuri Bodakçi

    2014-03-01

    Full Text Available Objective: Psoas abscess (PA is a rare infection disease, which is difficult to diagnose. In the present study, we aimed to evaluate etiological factors and treatment results of patients with PA. Methods: Files of 20 patients who were diagnosed as PA between December 2006 and January 2013, were retrospectively analyzed. Patient’s whose data were entirely reached and diagnosed by Ultrasonography and/or Computed Tomography as an exact PA were included to the study. Results: The mean age of the 20 patients was 48.8 (range 17-82 year, and 6 of them were female and remaining were male. Psoas abscess were on the right side in 12 patients (60%, on the left side in seven patients (35%, and bilateral in one (5%. According to data records four patients had Diabetes Mellitus (20%, two had Hypertension (10%, one had cerebrovascular disease (5%, one had tuberculosis (5%, one had hyperthyroidism (5%, one had mental retardation (5%, and one had paraplegia (5%. Six case (30% were diagnosed as a primary psoas abscess (pPA, sPA and remaining (n=14, %70 were diagnosed as secondary. Percutaneous drainage was performed to 13 patients (65% and exploration was performed to three patients (15% as a treatment modality. Remaining four patients (20% were followed by medical treatment. Conclusion: Psoas abscess is rare and have variable and non-specific clinical characteristic, which may lead to difficulty in diagnosis. In developed and developing countries, it has been reported that the most common causes of sPA are Pott's disease, and Crohn's disease, also it should be taken into account that open surgery and urinary tract stone disease can receive a significant portion of the etiological factors. J Clin Exp Invest 2014; 5 (1: 59-63

  14. Etiologic profile of spastic quadriplegia in children.

    Science.gov (United States)

    Venkateswaran, Sunita; Shevell, Michael I

    2007-09-01

    The etiologic profile and possible predictors of etiology in children with spastic quadriplegia were assessed in a consecutive cohort of children with this motor impairment. Medical records from a single pediatric neurology practice over a 14-year interval were retrospectively and systematically reviewed. Variables comprised possible demographic, prenatal, perinatal, and postnatal risk factors. Of the 99 patients included in the study, 39 were premature (quadriplegia was 83%, with differing underlying etiologies depending on gestational age. These results should help guide physicians in investigating possible underlying etiologies in patients with spastic quadriplegia.

  15. Priapism: etiology, pathophysiology and management

    Directory of Open Access Journals (Sweden)

    Van Der Horst C.

    2003-01-01

    Full Text Available The understanding of erectile physiology has improved the prompt diagnosis and treatment of priapism. Priapism is defined as prolonged and persistent erection of the penis without sexual stimulation and failure to subside despite orgasm. Numerous etiologies of this condition are considered. Among others a disturbed detumescence mechanism, which may due to excess release of contractile neurotransmitters, obstruction of draining venules, malfunction of the intrinsic detumescence mechanism or prolonged relaxation of intracavernosal smooth muscle are postulated. Treatment of priapism varies from a conservative medical to a drastic surgical approach. Two main types of priapism; veno-occlusive low flow (ischemic and arterial high flow (non-ischemic, must be distinguished to choose the correct treatment option for each type. Patient history, physical examination, penile hemodynamics and corporeal metabolic blood quality provides distinction between a static or dynamic pathology. Priapism can be treated effectively with intracavernous vasoconstrictive agents or surgical shunting. Alternative options, such as intracavernous injection of methylene blue (MB or selective penile arterial embolization (SPEA, for the management of high and low flow priapism are described and a survey on current treatment modalities is given.

  16. Etiological approach to chronic urticaria.

    Science.gov (United States)

    Krupa Shankar, D S; Ramnane, Mukesh; Rajouria, Eliz Aryal

    2010-01-01

    In 1769, William Cullen introduced the word "urticaria" (transient edematous papules, plaque with itching). Urticaria affects 15-25% of people at least once in their life time. It is a clinical reaction pattern triggered by many factors causing the liberation of vasoactive substances such as histamine, prostaglandins and kinins. Urticaria is classified according to its duration into acute (6 weeks duration). Various clinical investigations may be initiated to diagnosis the cause. To evaluate the types of chronic urticaria with reference to etiology from history and investigations. A total of 150 patients with chronic urticaria of more than six weeks were studied. Autologous serum skin test (ASST) was performed after physical urticarias were excluded. Standard batteries of tests were performed after ASST in all patients; and other specific investigations were done where necessary. Skin prick test was done in idiopathic urticaria. The study sample consisted of 62 male and 88 female patients with a mean age of 21-40 years. About 50% of patients showed an ASST positive reaction, 3.9% were positive for antinuclear antibody (ANA), IgE titer was elevated in 37%, H. pylori antibodies was positive in 26.7%. Thyroid antibodies were positive in 6.2%. Giardia and entamoeba histolytica was reported in 3.3% on routine stool examination and on urinalysis 8% had elevated WBC counts; 12% showed para nasal sinusitis, with maxillary sinusitis of 7.3%. Random blood sugar was high in 5.3%. Four patients had ASOM, two had positive KOH mount for dermatophytes, abdominal USG showed cholecystitis in two patients. Recurrent tonsillitis was noted in two patients. Urticaria following intake of NSAIDs was observed in four patients and with oral contraceptive pills in one patient. Contact urticaria to condom (latex) was seen in one patient. Cholinergic (4.7%) and dermographic (4.7%) urticaria were the predominant physical urticarias. Prick test was performed in idiopathic urticaria with maximum

  17. Fundamentals of clinical methodology: 2. Etiology.

    Science.gov (United States)

    Sadegh-Zadeh, K

    1998-03-01

    The concept of etiology is analyzed and the possibilities and limitations of deterministic, probabilistic, and fuzzy etiology are explored. Different kinds of formal structures for the relation of causation are introduced which enable us to explicate the notion of cause on qualitative, comparative, and quantitative levels. The conceptual framework developed is an approach to a theory of causality that may be useful in etiologic research, in building nosological systems, and in differential diagnosis, therapeutic decision-making, and controlled clinical trials. The bearings of the theory are exemplified by examining the current Chlamydia pneumoniae hypothesis on the incidence of myocardial infarction.

  18. Etiological approach to chronic urticaria

    Directory of Open Access Journals (Sweden)

    Krupa Shankar D

    2010-01-01

    Full Text Available Background: In 1769, William Cullen introduced the word "urticaria" (transient edematous papules, plaque with itching. Urticaria affects 15-25% of people at least once in their life time. It is a clinical reaction pattern triggered by many factors causing the liberation of vasoactive substances such as histamine, prostaglandins and kinins. Urticaria is classified according to its duration into acute (< 6 weeks duration and chronic (>6 weeks duration. Various clinical investigations may be initiated to diagnosis the cause. Aims: To evaluate the types of chronic urticaria with reference to etiology from history and investigations . Materials and Methods: A total of 150 patients with chronic urticaria of more than six weeks were studied. Autologous serum skin test (ASST was performed after physical urticarias were excluded. Standard batteries of tests were performed after ASST in all patients; and other specific investigations were done where necessary. Skin prick test was done in idiopathic urticaria. Results: The study sample consisted of 62 male and 88 female patients with a mean age of 21-40 years. About 50% of patients showed an ASST positive reaction, 3.9% were positive for antinuclear antibody (ANA, IgE titer was elevated in 37%, H. pylori antibodies was positive in 26.7%. Thyroid antibodies were positive in 6.2%. Giardia and entamoeba histolytica was reported in 3.3% on routine stool examination and on urinalysis 8% had elevated WBC counts; 12% showed para nasal sinusitis, with maxillary sinusitis of 7.3%. Random blood sugar was high in 5.3%. Four patients had ASOM, two had positive KOH mount for dermatophytes, abdominal USG showed cholecystitis in two patients. Recurrent tonsillitis was noted in two patients. Urticaria following intake of NSAIDs was observed in four patients and with oral contraceptive pills in one patient. Contact urticaria to condom (latex was seen in one patient. Cholinergic (4.7% and dermographic (4.7% urticaria were

  19. Etiology and Treatment of Developmental Stammering

    Directory of Open Access Journals (Sweden)

    J Gordon Millichap

    2008-01-01

    Full Text Available The etiology and treatment of developmental stammering in childhood (DS, also called idiopathic stammering or stuttering are reviewed by a speech pathologist and psychologist at the University of Reading, UK.

  20. Fournier's gangrene with an unusual urologic etiology.

    Science.gov (United States)

    Fialkov, J M; Watkins, K; Fallon, B; Kealey, G P

    1998-08-01

    Fournier's gangrene is a necrotizing infection affecting the male genitalia and perineum, caused by synergistic aerobic and anaerobic organisms. We report on a previously undescribed upper urinary tract etiology for this life-threatening infection.

  1. Etiology and Outcome of Neonatal Seizures

    Directory of Open Access Journals (Sweden)

    J Gordon Millichap

    2006-04-01

    Full Text Available The prognostic value of seizure etiology, neurologic examination, EEG, and neuroimaging in the neurodevelopmental outcome of 89 term infants with neonatal seizures was determined at the Children’s Hospital and Harvard Medical School, Boston, MA.

  2. Etiological Evolution in Chronic Renal Failure

    OpenAIRE

    Betul Battaloglu Inanc

    2016-01-01

    Aim: This study aimed to determine,demographic characteristics and etiologies chronic renal failure patients’ who applied to nephrology clinic. Material and Method: 232 chronic renal failure patients’ files, demographic specialities and etiologies evaluated retrospectively, who applied to nephrology clinic at Dr. Sadi Konuk Training and Research Hospital between February 2005 and August 2006. Results: Patiens were 52.6% women and 47.4% of the man. Mean ages’ of 61.7 ±...

  3. Less Common Etiologies of Status Epilepticus

    Science.gov (United States)

    Bleck, Thomas P

    2010-01-01

    Status epilepticus is treated as a neurologic emergency and only later are the potential etiologies assessed. While sometimes the cause for status epilepticus is apparent (e.g., antiepileptic drug withdrawal), all too often it is not identified, even after extensive diagnostic testing has been performed. With emphasis on the less-common etiologies, this review will cover various probable and known causes of status epilepticus among adults, children, and those patients with refractory epilepsy. PMID:20231917

  4. Cellular and molecular etiology of hepatocyte injury in a murine ...

    African Journals Online (AJOL)

    Exposures to a wide variety of environmental substances are negatively associated with many biological cell systems both in humans and rodents. Trichloroethane (TCE) ... These results suggest the need for a complete risk assessment of any new chemical prior to its arrival into the consumer market. Keywords: Apoptosis ...

  5. Investigating the Molecular Basis of Major Depressive Disorder Etiology

    NARCIS (Netherlands)

    Jabbi, Mbemba; Korf, Jaalp; Ormel, Johan; Kema, Ido P.; den Boer, Johan A.; Kvetnansky, R; Aguilera, G; Goldstein, D; Jezova, D; Krizanova, O; Sabban, EL; Pacak, K

    2008-01-01

    Genes play a major role in behavioral adaptation to challenging environmental stimuli, but the complexity of their contribution remains unclear. There is growing evidence linking disease phenotypes with genes on the one hand, and the genesis of stress-related disorders like major depression, as a

  6. Genetic etiology of oral cancer.

    Science.gov (United States)

    Ali, Johar; Sabiha, Bibi; Jan, Hanif Ullah; Haider, Syed Adnan; Khan, Abid Ali; Ali, Saima S

    2017-07-01

    Head and neck squamous cell carcinoma (HNSCC) is the sixth most common cancer worldwide. It accounts for 2.5% of all new cancer cases and 1.9% of all cancer deaths annually. More than 90% of oral cancers (occurring in the mouth, lip, and tongue) are oral squamous cell carcinoma. The incidence rate of oral cancer varies widely throughout the world, with an evident prevalence in South Asian countries. This high incidence occurs in correlation with oral cancer-associated behaviors such as alcohol, tobacco use. Researchers have reported that these behaviors lead to genetic variations in tumor suppressor genes (APC, p53), proto-oncogenes (Myc), oncogene (Ras) and genes controlling normal cellular processes (EIF3E, GSTM1). Processes such as segregation of chromosomes, genomic copy number, loss of heterozygosity, telomere stabilities, regulations of cell-cycle checkpoints, DNA damage repairs and defects in notch signaling pathways are involved in causing oral cancer. In order to develop preventive and therapeutic options, it is necessary to comprehend the basic molecular mechanisms forcing oral tumorigenesis. This review examines, in detail, the mechanisms of genetic alteration which are considered to be responsible for the initiation of oral cancer. Copyright © 2017 Elsevier Ltd. All rights reserved.

  7. ETIOLOGICAL FACTORS OF CHRONIC GASTRITIS IN CHILDREN

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    G.V. Volynets

    2006-01-01

    Full Text Available In the article the data on the study of the etiological factors of various types of chronic gastritis in children are presented. Based on revealing of the auto antibodies to parietal gastric cells in 40,0% of children autoimmune gastritis (a type gastritis is diagnosed. Helicobacterr pylori infection is revealed in 44,8% of children. In 27,6% of children type c gastritis is diagnosed. Autoimmune gastritis in children has been linked to the active phase of chronic epsteinbbarr virus infection. the etiological factors of nonautoimmune gastritis are Helicobacter pylori infection (type b gastritis and multiple duodenogastric refluxes (type c gastritis.Key words: children, chronic gastritis, etiological factors, autoimmune gastritis, nonautoimmune gastritis, active phase of chronic Epstein-Barr virus infection, Helicobacter pylori infection.

  8. ETIOLOGICAL FACTORS FOR VOCAL FOLD POLYP FORMATION

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    DAŠA GLUVAJIĆ

    2016-05-01

    Full Text Available Background: Vocal fold polyp is one of the most common causes for hoarseness. Many different etiological factors contribute to vocal fold polyp formation. The aim of the study was to find out whether the etiological factors for polyp formation have changed in the last 30 years.Methods: Eighty-one patients with unilateral vocal fold polyp were included in the study. A control group was composed of 50 volunteers without voice problems who matched the patients by age and gender. The data about etiological factors and the findings of phoniatric examination were obtained from the patients' medical documentation and from the questionnaires for the control group. The incidence of etiological factors was compared between the two groups. The program SPSS, Version 18 was used for statistical analysis.Results: The most frequent etiological factors were occupational voice load, GER, allergy and smoking. In 79% of patients 2 – 6 contemporary acting risk factors were found. Occupational voice load (p=0,018 and GER (p=0,004 were significantly more frequent in the patients than in the controls. The other factors did not significantly influence the polyp formation.Conclusions: There are several factors involved simultaneously in the formation of vocal fold polyps both nowadays and 30 years ago. Some of the most common factors remain the same (voice load, smoking, others are new (GER, allergy, which is probably due to the different lifestyle and working conditions than 30 years ago. Occupational voice load and GER were significantly more frequently present in the patients with polyp than in the control group. Regarding the given results it is important to instruct workers with professional vocal load about etiological factors for vocal fold polyp formation.

  9. Oral Anaerobic Bacteria in the Etiology of Ankylosing Spondylitis

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    Mesut Öğrendik

    2017-06-01

    Full Text Available Ankylosing spondylitis (AS is associated with periodontitis. Anti– Porphyromonas gingivalis and anti– Prevotella intermedia antibody titers were higher in patients with spondyloarthritis than in healthy people. Sulfasalazine is an effective antibiotic treatment for AS. Moxifloxacin and rifamycin were also found to be significantly effective. The etiology hypothesis suggests that oral anaerobic bacteria such as Porphyromonas spp and Prevotella spp contribute to the disease. These bacteria have been identified in AS, and we will discuss their pathogenic properties with respect to our knowledge of the disease. Periodontal pathogens are likely to be responsible for the development of AS in genetically susceptible individuals. This finding should guide the development of more comprehensive and efficacious treatment strategies for AS.

  10. Comprehensive overview of prostatitis.

    Science.gov (United States)

    Khan, Farhan Ullah; Ihsan, Awais Ullah; Khan, Hidayat Ullah; Jana, Ruby; Wazir, Junaid; Khongorzul, Puregmaa; Waqar, Muhammad; Zhou, Xiaohui

    2017-10-01

    Prostatitis is a common urinary tract syndrome that many doctors find problematic to treat effectively. It is the third most commonly found urinary tract disease in men after prostate cancer and Benign Prostate Hyperplasia (BPH). Prostatitis may account for 25% of all office visits made to the urological clinics complaining about the genital and urinary systems all over the world. In the present study, we classified prostatitis and comprehensively elaborated the etiology, pathogenesis, diagnosis, and treatment of acute bacterial prostatitis (category I), chronic bacterial prostatitis (category II), chronic pelvic pain syndrome (CPPS) (category III), and asymptomatic prostatitis (category IV). In addition, we also tried to get some insights about other types of prostatitis-like fungal, viral and gonococcal prostatitis. The aim of this review is to present the detail current perspective of prostatitis in a single review. To the best of our knowledge currently, there is not a single comprehensive review, which can completely elaborate this important topic in an effective way. Furthermore, this review will provide a solid platform to conduct future studies on different aspects such as risk factors, mechanism of pathogenesis, proper diagnosis, and rational treatment plans for fungal, viral, and gonococcal prostatitis. Copyright © 2017 Elsevier Masson SAS. All rights reserved.

  11. Symptomatology and etiology of chronic pediatric rhinosinusitis.

    Science.gov (United States)

    Ilhan, Adem Emre; Karaman, Murat; Tekin, Arman

    2012-01-01

    This study aims to define symptoms and etiology and determine how to prevent chronic rhinosinusitis in children. Between February 2003 and February 2005, 50 pediatric patients (25 girls and 25 boys; mean age 8.22 years; range 4 to 14 years) with chronic rhinosinusitis were included in the study. The patients were questioned about anterior/posterior nasal dripping, night cough, headache, nausea, vomiting and nasal obstruction for symptomatology; about school condition, smoking behavior of parents and history of asthma for etiology. Hemogram, serum biochemistry, allergy test, nasal smear, chest and lateral neck radiography and sweat test were performed. Symptomatologic examination revealed that 48% had anterior nasal dripping, 62% with postnasal dripping, 70% with headache and 90% with nasal obstruction. Evaluation of etiological factors revealed that 68% were going to school, 48% of the parents had the history of smoking, 42% with allergy test-positivity and 60% with adenoid vegetation. Our study results indicated that environmental factors are important as etiological factors in rhinosinusitis. For prevention, we recommend restriction of close relationship at school, not to smoke at home and vaccination in each year with influenza and S. pneumonia vaccine.

  12. CKD of Uncertain Etiology: A Systematic Review.

    Science.gov (United States)

    Lunyera, Joseph; Mohottige, Dinushika; Von Isenburg, Megan; Jeuland, Marc; Patel, Uptal D; Stanifer, John W

    2016-03-07

    Epidemics of CKD of uncertain etiology (CKDu) are emerging around the world. Highlighting common risk factors for CKD of uncertain etiology across various regions and populations may be important for health policy and public health responses. We searched PubMed, Embase, Scopus and Web of Science databases to identify published studies on CKDu. The search was generated in January of 2015; no language or date limits were used. We used a vote-counting method to evaluate exposures across all studies. We identified 1607 articles, of which 26 met inclusion criteria. Eighteen (69%) were conducted in known CKDu-endemic countries: Sri Lanka (38%), Nicaragua (19%), and El Salvador (12%). The other studies were from India, Japan, Australia, Mexico, Sweden, Tunisia, Tanzania, and the United States. Heavy metals, heat stress, and dietary exposures were reported across all geographic regions. In south Asia, family history, agrochemical use, and heavy metal exposures were reported most frequently, whereas altitude and temperature were reported only in studies from Central America. Across all regions, CKDu was most frequently associated with a family history of CKDu, agricultural occupation, men, middle age, snake bite, and heavy metal exposure. Studies examining etiologies of CKDu have reported many exposures that are heterogeneous and vary by region. To identify etiologies of CKDu, designing consistent and comparative multisite studies across high-risk populations may help elucidate the importance of region-specific versus global risk factors. Copyright © 2016 by the American Society of Nephrology.

  13. The Etiology of Conflict in Multicultural Relations.

    Science.gov (United States)

    Byrd, Marquita L.

    This paper focuses on the common sources of etiologies of conflict in multicultural contexts. Multicultural communication is the creation and sharing of meaning among citizens of the same geopolitical system who belong to divergent tributary cultures. The sources of conflict in multicultural relations can be grouped into five broad categories.…

  14. Multifocal chronic osteomyelitis of unknown etiology

    International Nuclear Information System (INIS)

    Kozlowski, K.; Masel, J.; Harbison, S.; Yu, J.; Royal Brisbane Children Hospital; Regional Hospital Bowral

    1983-01-01

    Five cases of chronic, inflammatory, multifocal bone lesions of unknown etiology are reported. Although bone biopsy confirmed osteomyelitis in each case in none of them were organisms found inspite of an extensive work up. Different clinical course of the disease reflects different aetiology in respective cases. These cases present changing aspects of osteomyelitis emerging since introduction of antibiotics. (orig.)

  15. Recent Research on the Etiologies of Autism.

    Science.gov (United States)

    Fisher, Eileen; Van Dyke, Don C.; Sears, Lonnie; Matzen, Jane; Lin-Dyken, Deborah; McBrien, Dianne M.

    1999-01-01

    Reviews recent research on the etiologies of autism, including genetic research, anatomic and neuroimaging studies, topics in neurophysiology research (including serotonin, dopamine, and opiods), immunologic research, studies of autism phenotype, and electroencephalographic studies. It concludes that, as of yet, research has found no clear…

  16. On the Etiology of Sexual Dysfunction

    Science.gov (United States)

    Apfelbaum, Bernard

    1977-01-01

    Lack of consideration of the sexually functional population has led to misconceptions about causes of sexual dysfunction functioning. Automatic functioning can mask effects of pathogenic influences on sexuality, making these effects appear random, confounding etiological issues and creating the belief that causes of sexual dysfunction and disorder…

  17. Odontogenic cervical necrotizing fasciitis, etiological aspects

    African Journals Online (AJOL)

    2015-06-26

    Jun 26, 2015 ... Results: In the majority of cases, the disease evolved without the presence of associated systemic disorders (60% [45.49-. 72.69]) ... immune deficiencies, chronic alcoholism, or hepatic ... of these reports regarding the etiology of the development ..... periodontal lesions, where the Streptococcus strains are.

  18. Molecular and clinical profile of von Willebrand disease in Spain (PCM-EVW-ES): comprehensive genetic analysis by next-generation sequencing of 480 patients.

    Science.gov (United States)

    Borràs, Nina; Batlle, Javier; Pérez-Rodríguez, Almudena; López-Fernández, María Fernanda; Rodríguez-Trillo, Ángela; Lourés, Esther; Cid, Ana Rosa; Bonanad, Santiago; Cabrera, Noelia; Moret, Andrés; Parra, Rafael; Mingot-Castellano, María Eva; Balda, Ignacia; Altisent, Carme; Pérez-Montes, Rocío; Fisac, Rosa María; Iruín, Gemma; Herrero, Sonia; Soto, Inmaculada; de Rueda, Beatriz; Jiménez-Yuste, Víctor; Alonso, Nieves; Vilariño, Dolores; Arija, Olga; Campos, Rosa; Paloma, María José; Bermejo, Nuria; Berrueco, Rubén; Mateo, José; Arribalzaga, Karmele; Marco, Pascual; Palomo, Ángeles; Sarmiento, Lizheidy; Iñigo, Belén; Nieto, María Del Mar; Vidal, Rosa; Martínez, María Paz; Aguinaco, Reyes; César, Jesús María; Ferreiro, María; García-Frade, Javier; Rodríguez-Huerta, Ana María; Cuesta, Jorge; Rodríguez-González, Ramón; García-Candel, Faustino; Cornudella, Rosa; Aguilar, Carlos; Vidal, Francisco; Corrales, Irene

    2017-12-01

    Molecular diagnosis of patients with von Willebrand disease is pending in most populations due to the complexity and high cost of conventional molecular analyses. The need for molecular and clinical characterization of von Willebrand disease in Spain prompted the creation of a multicenter project (PCM-EVW-ES) that resulted in the largest prospective cohort study of patients with all types of von Willebrand disease. Molecular analysis of relevant regions of the VWF , including intronic and promoter regions, was achieved in the 556 individuals recruited via the development of a simple, innovative, relatively low-cost protocol based on microfluidic technology and next-generation sequencing. A total of 704 variants (237 different) were identified along VWF , 155 of which had not been previously recorded in the international mutation database. The potential pathogenic effect of these variants was assessed by in silico analysis. Furthermore, four short tandem repeats were analyzed in order to evaluate the ancestral origin of recurrent mutations. The outcome of genetic analysis allowed for the reclassification of 110 patients, identification of 37 asymptomatic carriers (important for genetic counseling) and re-inclusion of 43 patients previously excluded by phenotyping results. In total, 480 patients were definitively diagnosed. Candidate mutations were identified in all patients except 13 type 1 von Willebrand disease, yielding a high genotype-phenotype correlation. Our data reinforce the capital importance and usefulness of genetics in von Willebrand disease diagnostics. The progressive implementation of molecular study as the first-line test for routine diagnosis of this condition will lead to increasingly more personalized and effective care for this patient population. Copyright© 2017 Ferrata Storti Foundation.

  19. Molecular mechanisms of the epithelial transport of toxic metal ions, particularly mercury, cadmium, lead, arsenic, zinc, and copper. Comprehensive progress report, October 1, 1975--December 31, 1978

    International Nuclear Information System (INIS)

    Wasserman, R.H.

    1978-10-01

    Investigations were undertaken to elucidate the mode of transepithelial transport of potentially toxic metal ions across the gastrointestinal tract, with primary attention given to cadmium, zinc, and arsenic. In addition, the toxic effects of cadmium on the metabolism of vitamin D and calcium have been investigated in some detail. Several approaches have been taken, including studies on the localization of heavy metals in the intestinal mucosa, the effects of cadmium on various parameters of calcium metabolism, the modes of intestinal absorption of cadmium, arsenate, and zinc, and the interactions of heavy metals with each other and with calcium, phosphorus, and vitamin D. Details of these experiments are attached in the Comprehensive Progress Report

  20. Molecular mechanisms of the epithelial transport of toxic metal ions, particularly mercury, cadmium, lead, arsenic, zinc, and copper. Comprehensive progress report, October 1, 1975--December 31, 1978

    Energy Technology Data Exchange (ETDEWEB)

    Wasserman, R. H.

    1978-10-01

    Investigations were undertaken to elucidate the mode of transepithelial transport of potentially toxic metal ions across the gastrointestinal tract, with primary attention given to cadmium, zinc, and arsenic. In addition, the toxic effects of cadmium on the metabolism of vitamin D and calcium have been investigated in some detail. Several approaches have been taken, including studies on the localization of heavy metals in the intestinal mucosa, the effects of cadmium on various parameters of calcium metabolism, the modes of intestinal absorption of cadmium, arsenate, and zinc, and the interactions of heavy metals with each other and with calcium, phosphorus, and vitamin D. Details of these experiments are attached in the Comprehensive Progress Report.

  1. Scleroderma: nomenclature, etiology, pathogenesis, prognosis, and treatments: facts and controversies.

    Science.gov (United States)

    Fett, Nicole

    2013-01-01

    Scleroderma refers to a heterogeneous group of autoimmune fibrosing disorders. The nomenclature of scleroderma has changed dramatically in recent years, with morphea (localized scleroderma), limited cutaneous systemic sclerosis, diffuse cutaneous systemic sclerosis, and systemic sclerosis sine scleroderma encompassing the currently accepted disease subtypes. Major advances have been made in the molecular studies of morphea and systemic sclerosis; however, their etiologies and pathogenesis remain incompletely understood. Although morphea and systemic sclerosis demonstrate activation of similar inflammatory and fibrotic pathways, important differences in signaling pathways and gene signatures indicate they are likely biologically distinct processes. Morphea can cause significant morbidity but does not affect mortality, whereas systemic sclerosis has the highest disease-specific mortality of all autoimmune connective tissue diseases. Treatment recommendations for morphea and systemic sclerosis are based on limited data and largely expert opinions. Current collaborative efforts in morphea and systemic sclerosis research will hopefully lead to better understanding of the etiology and pathogenesis of these rare and varied diseases and improved treatment options. Published by Elsevier Inc.

  2. Highly pathogenic avian influenza virus subtype H5N1 in Africa: a comprehensive phylogenetic analysis and molecular characterization of isolates.

    Directory of Open Access Journals (Sweden)

    Giovanni Cattoli

    Full Text Available Highly pathogenic avian influenza virus A/H5N1 was first officially reported in Africa in early 2006. Since the first outbreak in Nigeria, this virus spread rapidly to other African countries. From its emergence to early 2008, 11 African countries experienced A/H5N1 outbreaks in poultry and human cases were also reported in three of these countries. At present, little is known of the epidemiology and molecular evolution of A/H5N1 viruses in Africa. We have generated 494 full gene sequences from 67 African isolates and applied molecular analysis tools to a total of 1,152 A/H5N1 sequences obtained from viruses isolated in Africa, Europe and the Middle East between 2006 and early 2008. Detailed phylogenetic analyses of the 8 gene viral segments confirmed that 3 distinct sublineages were introduced, which have persisted and spread across the continent over this 2-year period. Additionally, our molecular epidemiological studies highlighted the association between genetic clustering and area of origin in a majority of cases. Molecular signatures unique to strains isolated in selected areas also gave us a clearer picture of the spread of A/H5N1 viruses across the continent. Mutations described as typical of human influenza viruses in the genes coding for internal proteins or associated with host adaptation and increased resistance to antiviral drugs have also been detected in the genes coding for transmembrane proteins. These findings raise concern for the possible human health risk presented by viruses with these genetic properties and highlight the need for increased efforts to monitor the evolution of A/H5N1 viruses across the African continent. They further stress how imperative it is to implement sustainable control strategies to improve animal and public health at a global level.

  3. PERICARDITIS: ETIOLOGY, CLASSIFICATION, CLINIC, DIAGNOSTICS, TREATMENT. PART II

    Directory of Open Access Journals (Sweden)

    A.B. Sugak

    2009-01-01

    Full Text Available Pericarditis maybe caused by different agents: viruses, bacteria, tuberculosis, and it may be autoimmune. All these types of diseases have similar clinical signs, but differ by prevalence, prognosis and medical tactics. Due to achievements of radial methods of visualization, molecular biology, and immunology, we have an opportunity to provide early specific diagnostics and etiological treatment of inflammatory diseases of pericardium. The second part of lecture presents main principles of differential diagnostics of specific types of pericarditis, gives characteristics of several often accruing types of disease, and describes treatment and tactics of management of patients with pericarditis.Key words: children, pericarditis.(Voprosy sovremennoi pediatrii — Current Pediatrics. 2009;8(3:76-81

  4. Interaction of new kinase inhibitors cabozantinib and tofacitinib with human serum alpha-1 acid glycoprotein. A comprehensive spectroscopic and molecular Docking approach

    Science.gov (United States)

    Ajmal, Mohammad Rehan; Abdelhameed, Ali Saber; Alam, Parvez; Khan, Rizwan Hasan

    2016-04-01

    In the current study we have investigated the interaction of newly approved kinase inhibitors namely Cabozantinib (CBZ) and Tofacitinib (TFB) with human Alpha-1 acid glycoprotein (AAG) under simulated physiological conditions using fluorescence quenching measurements, circular dichroism, dynamic light scattering and molecular docking methods. CBZ and TFB binds to AAG with significant affinity and the calculated binding constant for the drugs lie in the order of 104. With the increase in temperature the binding constant values decreased for both CBZ and TFB. The fluorescence resonance energy transfer (FRET) from AAG to CBZ and TFB suggested the fluorescence intensity of AAG was quenched by the two studied drugs via the formation of a non-fluorescent complex in the static manner. The molecular distance r value calculated from FRET is around 2 nm for both drugs, fluorescence spectroscopy data was employed for the study of thermodynamic parameters, standard Gibbs free energy change at 300K was calculated as - 5.234 kcal mol- 1 for CBZ-AAG interaction and - 6.237 kcal mol- 1 for TFB-AAG interaction, standard enthalpy change and standard entropy change for CBZ-AAG interaction are - 9.553 kcal mol- 1 and - 14.618 cal mol- 1K- 1 respectively while for AAG-TFB interaction, standard enthalpy and standard entropy change was calculated as 4.019 kcal mol- 1 and 7.206 cal mol- 1K- 1 respectively. Protein binding of the two drugs caused the tertiary structure alterations. Dynamic light scattering measurements demonstrated the reduction in the hydrodynamic radii of the protein. Furthermore molecular docking results suggested the Hydrophobic interaction and hydrogen bonding were the interactive forces in the binding process of CBZ to AAG while in case of TFB only hydrophobic interactions were found to be involved, overlap of the binding site for two studied drugs on the AAG molecule was revealed by docking results.

  5. Noncarious Cervical Lessions: From Etiology to Therapy

    OpenAIRE

    Marta Krolo; Aleksandra Kovačević

    2015-01-01

    The purpose of this article was to briefly summarize the most important characteristics of non-carious cervical lesions, as well as the etiological factors that lead to their formation. Cervical area represents one of the most sensitive parts of the tooth due to the specific position, as well as the structure and thickness of hard tissue. It is less resistant to various chemical and mechanical stimuli, and as a result the lesions in this area are frequently encountered in everyday practice.

  6. Review: Recent Finding about Etiology of

    OpenAIRE

    Parvaneh Karim-Zadeh

    2000-01-01

    Autism and the other disorders in the autism spectrum are behaviorally defined syndromes that can be a prolonged disorder. The specific underlying neurophysiologic mechanisms simply not known, but probably several causes lead to disorders in the autism spectrum. This article is summary of recent research about etiology of autism but the search must continue. 1) Neurobiological origin, the neurobiological investigations show the role of dopamine and serotonin in pathogenesis of autism. 2) Gene...

  7. Towards a balanced account of autism etiology

    OpenAIRE

    Hall, Genae A.

    2004-01-01

    Drash and Tudor describe six sets of reinforcement contingencies which may be present in the environments of some children eventually diagnosed with autism and suggest that these contingencies account for the etiology of “autistic” behaviors. Nevertheless, merely observing such contingencies in the environments of these children is insufficient to establish a positive correlation between the contingencies and “autistic” behaviors, let alone a causal relationship. To demonstrate a positive cor...

  8. Etiology of short stature in children

    International Nuclear Information System (INIS)

    Sultan, M.; Afzal, M.; Ali, S.

    2008-01-01

    To determine the causes of short stature in children with special emphasis on growth hormone deficiency. Two hundred and fourteen children (140 boys and 74 girls), ranging from 02 to 15 years presenting with short stature were studied. Height and weight were plotted on appropriate growth charts and centiles determined. Relevant hematological and biochemical investigations including thyroid profile were done. Bone age was determined in all cases. Growth hormone axis was investigated after excluding other causes. Karyotyping was done in selected cases. Data was analyzed by SPSS 10.0 by descriptive statistics. Mean values were compared using t-test. In this study, the five most common etiological factors in order of frequency were Constitutional Growth Delay (CGD), Familial Short Stature (FSS), malnutrition, coeliac disease and Growth Hormone Deficiency (GHD). In 37.4% of patients, the study revealed normal variants of growth - CGD, FSS or combination of both, 46.7% cases had nonendocrinological and 15.9% had endocrinological etiology. CGD (22.1%) in males and FSS (27%) in females were the most common etiology. GHD was found in 6.1% children and it comprised 38.2% of all endocrinological causes. Children with height falling below 0.4th centile were more likely to have a pathological short stature (79.2%) compared to 39.3% whose height was below 3rd centile but above 0.4th centile (p<0.05). CGD and FSS are most common causes of short stature in boys and girls respectively, whereas, GHD is a relatively uncommon etiology. (author)

  9. Etiology, diagnosis, and clinical management of vulvodynia

    Directory of Open Access Journals (Sweden)

    Sadownik LA

    2014-05-01

    Full Text Available Leslie A Sadownik University of British Columbia, Department of Obstetrics and Gynecology, Vancouver, BC, Canada Abstract: Chronic vulvar pain or discomfort for which no obvious etiology can be found, ie, vulvodynia, can affect up to 16% of women. It may affect girls and women across all age groups and ethnicities. Vulvodynia is a significant burden to society, the health care system, the affected woman, and her intimate partner. The etiology is multifactorial and may involve local injury or inflammation, and peripheral and or central sensitization of the nervous system. An approach to the diagnosis and management of a woman presenting with chronic vulvar pain should address the biological, psychological, and social/interpersonal factors that contribute to her illness. The gynecologist has a key role in excluding other causes for vulvar pain, screening for psychosexual and pelvic floor dysfunction, and collaborating with other health care providers to manage a woman's pain. An important component of treatment is patient education regarding the pathogenesis of the pain and the negative impact of experiencing pain on a woman's overall quality of life. An individualized, holistic, and often multidisciplinary approach is needed to effectively manage the woman's pain and pain-related distress. Keywords: vulvodynia, diagnosis, treatment, etiology, sexual pain disorder, dyspareunia, vestibulodynia, assessment, treatment, multidisciplinary

  10. Etiology, Localization and Prognosis in Cerebellar Infarctions

    Directory of Open Access Journals (Sweden)

    Yavuz Yücel

    2006-01-01

    Full Text Available Cerebrovasculer disease are the most frequent disease of the brain. Cerebellar infarct remains % 1.5-4.2 of these diseases. Etiological factors, lesion localization, symptoms and findings and relationship with prognosis of our patients with cerebellar infarct were investigated in our study. For this purpose, 32 patients were evaluated who were admitted to the Dicle University Medical School Department of Neurology in 1995-2001 hospitalized with the diagnosis of clinically and radiological confirmed cerebellar infarction.All of patients in the study group, 21 (%65.6 were male and 11 (%34.3 female. Age of overall patients ranged between 40 and 75 years with a mean of 57.8±10.2 years. Atherothrombotic infarct was the most frequent reason at the etiologic clinical classification. The most frequently found localization was the posterior inferior cerebellar artery infarct (%50. The leading two risk factors were hypertension (%78.1 and cigarette smoking (%50. The most common sign and symptoms were vertigo (%93.7, vomiting (%75, headache (%68.7 and cerebellar dysfunction findings (%50. The mean duration of hospitalization was 16.3±7.6 days. Overall mortality rate was found to be % 6.2. Finally, the most remarkable risk factors at cerebellar infarct patients are hypertension and atherosclerosis at etiology. We are considering that, controlling of these factors will reduce the appearance frequency of cerebellar infarcts.

  11. Application of support vector machine to three-dimensional shape-based virtual screening using comprehensive three-dimensional molecular shape overlay with known inhibitors.

    Science.gov (United States)

    Sato, Tomohiro; Yuki, Hitomi; Takaya, Daisuke; Sasaki, Shunta; Tanaka, Akiko; Honma, Teruki

    2012-04-23

    In this study, machine learning using support vector machine was combined with three-dimensional (3D) molecular shape overlay, to improve the screening efficiency. Since the 3D molecular shape overlay does not use fingerprints or descriptors to compare two compounds, unlike 2D similarity methods, the application of machine learning to a 3D shape-based method has not been extensively investigated. The 3D similarity profile of a compound is defined as the array of 3D shape similarities with multiple known active compounds of the target protein and is used as the explanatory variable of support vector machine. As the measures of 3D shape similarity for our new prediction models, the prediction performances of the 3D shape similarity metrics implemented in ROCS, such as ShapeTanimoto and ScaledColor, were validated, using the known inhibitors of 15 target proteins derived from the ChEMBL database. The learning models based on the 3D similarity profiles stably outperformed the original ROCS when more than 10 known inhibitors were available as the queries. The results demonstrated the advantages of combining machine learning with the 3D similarity profile to process the 3D shape information of plural active compounds.

  12. A comprehensive structure-function analysis shed a new light on molecular mechanism by which a novel smart copolymer, NY-3-1, assists protein refolding.

    Science.gov (United States)

    Ye, Chaohui; Ilghari, Dariush; Niu, Jianlou; Xie, Yaoyao; Wang, Yan; Wang, Chao; Li, Xiaokun; Liu, Bailin; Huang, Zhifeng

    2012-08-31

    An in-depth understanding of molecular basis by which smart polymers assist protein refolding can lead us to develop a more effective polymer for protein refolding. In this report, to investigate structure-function relationship of pH-sensitive smart polymers, a series of poly(methylacrylic acid (MAc)-acrylic acid (AA))s with different MAc/AA ratios and molecular weights were synthesized and then their abilities in refolding of denatured lysozyme were compared by measuring the lytic activity of the refolded lysozyme. Based on our analysis, there were optimal MAc/AA ratio (44% MAc), M(w) (1700 Da), and copolymer concentration (0.1%, w/v) at which the highest yield of protein refolding was achieved. Fluorescence, circular dichroism, and RP-HPLC analysis reported in this study demonstrated that the presence of P(MAc-AA)s in the refolding buffer significantly improved the refolding yield of denatured lysozyme without affecting the overall structure of the enzyme. Importantly, our bioseparation analysis, together with the analysis of zeta potential and particle size of the copolymer in refolding buffers with different copolymer concentrations, suggested that the polymer provided a negatively charged surface for an electrostatic interaction with the denatured lysozyme molecules and thereby minimized the hydrophobic-prone aggregation of unfolded proteins during the process of refolding. Copyright © 2012 Elsevier B.V. All rights reserved.

  13. A multiple translocation event in a patient with hexadactyly, facial dysmorphism, mental retardation and behaviour disorder characterised comprehensively by molecular cytogenetics. Case report and review of the literature.

    Science.gov (United States)

    Seidel, Jörg; Heller, Anita; Senger, Gabriele; Starke, Heike; Chudoba, Ilse; Kelbova, Christina; Tönnies, Holger; Neitzel, Heidemarie; Haase, Claudia; Beensen, Volkmar; Zintl, Felix; Claussen, Uwe; Liehr, Thomas

    2003-09-01

    We report a 13-year-old female patient with multiple congenital abnormalities (microcephaly, facial dysmorphism, anteverted dysplastic ears and postaxial hexadactyly), mental retardation, and adipose-gigantism. Ultrasonography revealed no signs of a heart defect or renal abnormalities. She showed no speech development and suffered from a behavioural disorder. CNS abnormalities were excluded by cerebral MRI. Initial cytogenetic studies by Giemsa banding revealed an aberrant karyotype involving three chromosomes, t(2;4;11). By high resolution banding and multicolour fluoresence in-situ hybridisation (M-FISH, MCB), chromosome 1 was also found to be involved in the complex chromosomal aberrations, confirming the karyotype 46,XX,t(2;11;4).ish t(1;4;2;11)(q43;q21.1;p12-p13.1;p14.1). To the best of our knowledge no patient has been previously described with such a complex translocation involving 4 chromosomes. This case demonstrates that conventional chromosome banding techniques such as Giemsa banding are not always sufficient to characterise complex chromosomal abnormalities. Only by the additional utilisation of molecular cytogenetic techniques could the complexity of the present chromosomal rearrangements and the origin of the involved chromosomal material be detected. Further molecular genetic studies will be performed to clarify the chromosomal breakpoints potentially responsible for the observed clinical symptoms. This report demonstrates that multicolour-fluorescence in-situ hybridisation studies should be performed in patients with congenital abnormalities and suspected aberrant karyotypes in addition to conventional Giemsa banding.

  14. Childhood hydrocephalus – is radiological morphology associated with etiology

    DEFF Research Database (Denmark)

    Foss-Skiftesvik, Jon; Andresen, Morten; Juhler, Marianne

    2013-01-01

    Clinicians use a non-standardized, intuitive approach when correlating radiological morphology and etiology of hydrocephalus.......Clinicians use a non-standardized, intuitive approach when correlating radiological morphology and etiology of hydrocephalus....

  15. Laboratory methods for determining pneumonia etiology in children

    NARCIS (Netherlands)

    Murdoch, David R.; O'Brien, Katherine L.; Driscoll, Amanda J.; Karron, Ruth A.; Bhat, Niranjan; Black, Robert E.; Bhutta, Zulfiqar A.; Campbell, Harry; Cherian, Thomas; Crook, Derrick W.; de Jong, Menno D.; Dowell, Scott F.; Graham, Stephen M.; Klugman, Keith P.; Lanata, Claudio F.; Madhi, Shabir A.; Martin, Paul; Nataro, James P.; Piazza, Franco M.; Qazi, Shamim A.; Zar, Heather J.; Levine, Orin S.; Knoll, Maria Deloria; Feikin, Daniel R.; Scott, J. Anthony G.; Driscoll, Amanda; DeLuca, Andrea; Crawley, Jane

    2012-01-01

    Laboratory diagnostics are a core component of any pneumonia etiology study. Recent advances in diagnostic technology have introduced newer methods that have greatly improved the ability to identify respiratory pathogens. However, determining the microbial etiology of pneumonia remains a challenge,

  16. The potential impact of carboxylic-functionalized multi-walled carbon nanotubes on trypsin: A Comprehensive spectroscopic and molecular dynamics simulation study.

    Directory of Open Access Journals (Sweden)

    Maryam Noordadi

    Full Text Available In this study, we report a detailed experimental, binding free energy calculation and molecular dynamics (MD simulation investigation of the interactions of carboxylic-functionalized multi-walled carbon nanotubes (COOH-f-MWCNTs with porcine trypsin (pTry. The enzyme exhibits decreased thermostability at 330K in the presence of COOH-f-MWCNTs. Furthermore, the activity of pTry also decreases in the presence of COOH-f-MWCNTs. The restricted diffusion of the substrate to the active site of the enzyme was observed in the experiment. The MD simulation analysis suggested that this could be because of the blocking of the S1 pocket of pTry, which plays a vital role in the substrate selectivity. The intrinsic fluorescence of pTry is quenched with increase in the COOH-f-MWCNTs concentration. Circular dichroism (CD and UV-visible absorption spectroscopies indicate the ability of COOH-f-MWCNTs to experience conformational change in the native structure of the enzyme. The binding free energy calculations also show that electrostatics, π-cation, and π-π stacking interactions play important roles in the binding of the carboxylated CNTs with pTry. The MD simulation results demonstrated that the carboxylated CNTs adsorb to the enzyme stronger than the CNT without the-COOH groups. Our observations can provide an example of the nanoscale toxicity of COOH-f-MWCNTs for proteins, which is a critical issue for in vivo application of COOH-f-MWCNTs.

  17. Testicular cancer - epidemiology, etiology and risk factors

    International Nuclear Information System (INIS)

    Ondrusova, M.; Ondrus, D.

    2012-01-01

    Testicular cancer is a rare malignancy, that affects 1-2 % of male population. Trends of testicular cancer mortality are stable for a long period of time, even that incidence shows a rapid growth. This paper deals with national trends in testicular cancer incidence and mortality in Slovakia from 1968 to 2007 by using the join-point regression analysis to propose potential changes in health care. The authors noted a statistically significant increase in the values of incidence and improvement in mortality after 1975. Paper also deals with the etiology and risk factors of this malignancy. (author)

  18. Etiology and Management of Sexual Dysfunction

    Directory of Open Access Journals (Sweden)

    Narendra Kumar Muthugaduru Shivarudrappa

    2009-09-01

    Full Text Available Sexual dysfunction is the impairment or disruption of any of the three phases of normal sexual functioning, including loss of libido, impairment of physiological arousal and loss, delay or alteration of orgasm. Each one of these can be affected by an orchestra of factors like senility, medical and surgical illnesses, medications and drugs of abuse. Non-pharmacological therapy is the main stay in the treatment of sexual dysfunction and drugs are used as adjuncts for a quicker and better result. Management in many of the cases depends on the primary cause. Here is a review of the major etiological factors of sexual dysfunction and its management

  19. Etiology of pediatric acute liver failure

    Directory of Open Access Journals (Sweden)

    GUO Jing

    2017-10-01

    Full Text Available Pediatric acute liver failure (PALF is a complex syndrome with rapid progression, and the cause of PALF is age-dependent. This article analyzes the common causes of PALF in clinical practice, including infection factors, inherited metabolic factors, poisoning and drugs, abnormal perfusion, and autoimmune diseases, among which infection factors are the most common cause. With the improvement in diagnosis and treatment techniques, the diagnostic rate of PALF caused by inherited metabolic diseases and autoimmune diseases keeps increasing. Due to the small number of PALF patients, there lacks experience in etiological diagnosis. This article summarizes related reports, in order to provide a reference for screening the causes of PALF.

  20. Comprehensive speciation of low-molecular weight selenium metabolites in mustard seeds using HPLC-electrospray linear trap/Orbitrap tandem mass spectrometry.

    Science.gov (United States)

    Ouerdane, Laurent; Aureli, Federica; Flis, Paulina; Bierla, Katarzyna; Preud'homme, Hugues; Cubadda, Francesco; Szpunar, Joanna

    2013-09-01

    An analytical methodology based on high-resolution high mass accuracy electrospray ionization (ESI) tandem MS assisted by Se-specific detection using inductively coupled plasma mass spectrometry (ICP MS) was developed for speciation of selenium (Se) in seeds of black mustard (Brassica nigra) grown on Se-rich soil. Size-exclusion LC-ICP MS allowed the determination of the Se distribution according to the molecular mass and the control of the species stability during extraction. The optimization of hydrophilic interaction of LC and cation-exchange HPLC resulted in analytical conditions making it possible to detect and characterize over 30 Se species using ESI MS, including a number of minor (<0.5%) metabolites. Selenoglucosinolates were found to be the most important class of species accounting for at least 15% of the total Se present and over 50% of all the metabolites. They were found particularly unstable during aqueous extraction leading to the loss of Se by volatilization as methylselenonitriles and methylselenoisothiocyanates identified using gas chromatography (GC) with the parallel ICP MS and atmospheric pressure chemical ionization (APCI) MS/MS detection. However, selenoglucosinolates could be efficiently recovered by extraction with 70% methanol. Other classes of identified species included selenoamino acids, selenosugars, selenosinapine and selenourea derivatives. The three types of reactions leading to the formation of selenometabolites were: the Se-S substitution in the metabolic pathway, oxidative reactions of -SeH groups with endogenous biomolecules, and chemical reactions, e.g., esterification, of Se-containing molecules and other biomolecules through functional groups not involving Se.

  1. Gene-environment interplay in the etiology of psychosis.

    Science.gov (United States)

    Zwicker, Alyson; Denovan-Wright, Eileen M; Uher, Rudolf

    2018-01-15

    Schizophrenia and other types of psychosis incur suffering, high health care costs and loss of human potential, due to the combination of early onset and poor response to treatment. Our ability to prevent or cure psychosis depends on knowledge of causal mechanisms. Molecular genetic studies show that thousands of common and rare variants contribute to the genetic risk for psychosis. Epidemiological studies have identified many environmental factors associated with increased risk of psychosis. However, no single genetic or environmental factor is sufficient to cause psychosis on its own. The risk of developing psychosis increases with the accumulation of many genetic risk variants and exposures to multiple adverse environmental factors. Additionally, the impact of environmental exposures likely depends on genetic factors, through gene-environment interactions. Only a few specific gene-environment combinations that lead to increased risk of psychosis have been identified to date. An example of replicable gene-environment interaction is a common polymorphism in the AKT1 gene that makes its carriers sensitive to developing psychosis with regular cannabis use. A synthesis of results from twin studies, molecular genetics, and epidemiological research outlines the many genetic and environmental factors contributing to psychosis. The interplay between these factors needs to be considered to draw a complete picture of etiology. To reach a more complete explanation of psychosis that can inform preventive strategies, future research should focus on longitudinal assessments of multiple environmental exposures within large, genotyped cohorts beginning early in life.

  2. Etiological Diagnosis of Undervirilized Male / XY Disorder of Sex Development

    International Nuclear Information System (INIS)

    Atta, I.; Ibrahim, M.; Parkash, A.; Lone, S. W.; Khan, Y. N.; Raza, J.

    2014-01-01

    .7%). Genitogram was carried out in 86 (45.98%) patients. Presumptive etiological diagnosis of androgen sensitivity syndrome/ 5-alpha reductase deficiency, testicular biosynthetic defect/ leydig cell hypoplasia, partial gonadal dysgenesis, ovotesticular DSD, XX testicular DSD, mixed gonadal dysgenesis, testicular vanishing syndrome, klinefelter syndrome, hypogonadotropic hypogonadism, isolated hypospadias and isolated micropenis was made. Conclusion: Clinical, chromosomal and hormonal assessment may help in making the presumptive etiological diagnosis. Further molecular genetics analysis are needed in differentiating these abnormalities and to make a final diagnosis. (author)

  3. Rhabdomyolysis with different etiologies in childhood

    Science.gov (United States)

    Alaygut, Demet; Torun Bayram, Meral; Kasap, Belde; Soylu, Alper; Türkmen, Mehmet; Kavukcu, Salih

    2017-01-01

    AIM To investigate different etiologies and management of the rhabdomyolysis in children. METHODS Eight pediatric rhabdomyolysis cases who applied to the Dokuz Eylul University Faculty of Medicine Department of Pediatric Nephrology with different etiologies between January 2004 and January 2012 were evaluated in terms of age, gender, admission symptoms, physical examination findings, factors provoking rhabdomyolysis, number of rhabdomyolysis attacks, laboratory results, family history and the final diagnosis received after the treatment. RESULTS Average diagnosis ages of eight cases were 129 (24-192) ± 75.5 mo and five of them were girls. All of them had applied with the complaint of muscle pain, calf pain, and dark color urination. Infection (pneumonia) and excessive physical activity were the most important provocative factors and excessive licorice consumption was observed in one case. In 5 cases, acute kidney injury was determined and two cases needed hemodialysis. As a result of the further examinations; the cases had received diagnoses of rhabdomyolysis associated with mycoplasma pneumoniae, sepsis associated rhabdomyolysis, licorice-induced hypokalemic rhabdomyolysis, carnitine palmitoyltransferase II deficiency, very long-chain acyl-CoA dehydrogenase deficiency, congenital muscular dystrophy and idiopathic paroxysmal rhabdomyolysis (Meyer-Betz syndrome). CONCLUSION It is important to distinguish the sporadic and recurrent rhabdomyolysis cases from each other. Recurrent rhabdomyolysis cases should follow up more regardful and attentive. PMID:29184760

  4. Obesity in Children: Definition, Etiology and Approach.

    Science.gov (United States)

    Aggarwal, Bhawana; Jain, Vandana

    2018-06-01

    Childhood obesity is an important public health issue worldwide. Urbanization, sedentary lifestyle and change in food habits are the chief reasons behind this pandemic. In a small proportion of children, obesity is the result of endocrine, syndromic or monogenic causes. The present paper summarizes the methods, definitions and cut-offs for identification of obesity in children. We have briefly reviewed the various techniques used for estimation of body fat in children and the cut-offs for defining obesity based on body fat percentage, and the reference curves based on body mass index and waist circumference. The etiology of obesity in children, including individual behaviors, macro- and micro-environmental influences, and endocrine causes have been discussed, and an approach to etiological assessment of obese children has been presented. Special emphasis has been laid on clinical pointers that suggest the presence of syndromic, endocrine or monogenic forms of obesity, such as, short stature, dysmorphism, neurocognitive impairment and early age at onset.

  5. Review: Recent Finding about Etiology of

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    Parvaneh Karim-Zadeh

    2000-10-01

    Full Text Available Autism and the other disorders in the autism spectrum are behaviorally defined syndromes that can be a prolonged disorder. The specific underlying neurophysiologic mechanisms simply not known, but probably several causes lead to disorders in the autism spectrum. This article is summary of recent research about etiology of autism but the search must continue. 1 Neurobiological origin, the neurobiological investigations show the role of dopamine and serotonin in pathogenesis of autism. 2 Genetic, studies in autism was established the hypothesis that genetic factors can be etiologically significant in subsets of patients. 3 With the Regional cerebral glucose metabolism measurement, autistic children had a left> right anterior rectal gyrus asymmetry as opposed to the normal right> left asymmetry in that region. 4 With the Regional cerebral blood flow measurement no cortical regional abnormalities were found. 5 Association of epilepsy and autism pediatric epilepsy lead to autistic regression. 6 Association of tuberous sclerosis and autism the number of tubers was significantly greater in individuals with a diagnosis of autism than in those without this diagnosis. 7 Embryological origin for autism, the results and two new lines of evidence that place the initiating injury for autism around the time of neural tube closure. 8 Obstetric complications and later autistic disorder, these data do not support the view that obstetric complications increase the risk for later autism. 9 Food allergy, recent findings show a relationship between food allergy and infantile autism. 10 Head circumferences measurement in children with autism show the large head circumference and increased growth.

  6. Recurring waterbird mortalities and unusual etiologies

    Science.gov (United States)

    Cole, Rebecca A.; Franson, J. Christian; Boere, Gerard C.; Galbraith, Colin A.; Stroud, David A.

    2006-01-01

    Over the last decade, the National Wildlife Health Center of the United States Geological Survey has documented various largescale mortalities of birds caused by infectious and non-infectious disease agents. Some of these mortality events have unusual or unidentified etiologies and have been recurring. While some of the causes of mortalities have been elucidated, others remain in various stages of investigation and identification. Two examples are discussed: 1) Leyogonimus polyoon (Class: Trematoda), not found in the New World until 1999, causes severe enteritis and has killed over 15 000 American Coot Fulica americana in the upper mid-western United States. The geographic range of this parasite within North America is predicted to be limited to the Great Lakes Basin. 2) In the early 1990s, estimates of up to 6% of the North American population of the Eared Grebe Podiceps nigricollis died at Salton Sea, California, with smaller mortalities occurring throughout the 1990s. Birds were observed to have unusual preening behaviour, and to congregate at freshwater drains and move onto land. Suggested etiologies included interactions of contaminants, immuno-suppression, an unusual form of a bacterial disease, and an unknown biotoxin. During studies carried out from 2000 to 2003, Eared Grebe mortality did not approach the level seen in the early 1990s and, although bacteria were identified as minor factors, the principal cause of mortality remains undetermined. The potential population impact of these emerging and novel disease agents is currently unknown.

  7. FUNCTION IN BIOLOGY: ETIOLOGICAL AND ORGANIZATIONAL PERSPECTIVES

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    Charbel Niño El-Hani

    2009-10-01

    Full Text Available ABSTRACT. In this paper, we argue for a taxonomy of approaches to function based on different epistemological perspectives assumed with regard to the treatment of this central concept in the life sciences. We distinguish between etiological and organizational perspectives on function, analyzing two distinct theories related to each perspective: Wright’s selectionist etiological approach and Godfrey-Smith’s modern history theory of functions, in the case of the etiological perspective; and Cummins’ functional analysis and Collier’s interactivist approach to function, among organizational accounts. We explain differences and similarities between these theories and the broader perspectives on function, arguing for a particular way of understanding the consensus without unity in debates about function. While explaining the accounts of function, we also deal with the relationship between this concept and other important biological concepts, such as adaptation, selection, complexity, and autonomy. We also advance an argument for the limits and prospects of the explanatory role of function in evolution. By arguing that changes in functionality are always grounded on changes in systems’ organization, we show that function can never explain the origins of traits. Nevertheless, it can explain the spread of traits in populations, but only when we are dealing with functionally novel traits. Finally, we stress that organizational accounts of function are needed to understand how new functions appear by means of changes in systems’ organization. KEYWORDS: Function; Teleology; Explanation; Etiology; Organization.   RESUMEN. En este artículo, argumentamos a favor de una taxonomía de abordajes sobre función basada en diferentes perspectivas epistemológicas a cerca del tratamiento de este concepto central en las ciencias de la vida. Distinguimos entre perspectivas etiológicas y organizacionales sobre función, analizando dos teorías distintas

  8. The Interaction between the Immune System and Epigenetics in the Etiology of Autism Spectrum Disorders

    OpenAIRE

    Nardone, Stefano; Elliott, Evan

    2016-01-01

    Recent studies have firmly established that the etiology of autism includes both genetic and environmental components. However, we are only just beginning to elucidate the environmental factors that might be involved in the development of autism, as well as the molecular mechanisms through which they function. Mounting epidemiological and biological evidence suggest that prenatal factors that induce a more activated immune state in the mother are involved in the development of autism. In para...

  9. HIV lipodystrophy etiology and pathogenesis. Body composition and metabolic alterations: etiology and pathogenesis.

    Science.gov (United States)

    Kotler, Donald P

    2003-04-01

    The results of epidemiologic investigations have clearly indicated that the development of lipodystrophy is multifactorial. Factors related to HIV infection, hormonal influences, mitochondrial dysfunction, cytokine activation related to immune reconstitution, and individual genetic predisposition all have been hypothesized as etiologic. Recent studies suggest that immune dysregulation rather than HIV infection per se may be the predominant factor in the development of lipodystrophy.

  10. Human papillomavirus molecular biology.

    Science.gov (United States)

    Harden, Mallory E; Munger, Karl

    Human papillomaviruses are small DNA viruses with a tropism for squamous epithelia. A unique aspect of human papillomavirus molecular biology involves dependence on the differentiation status of the host epithelial cell to complete the viral lifecycle. A small group of these viruses are the etiologic agents of several types of human cancers, including oral and anogenital tract carcinomas. This review focuses on the basic molecular biology of human papillomaviruses. Copyright © 2016 Elsevier B.V. All rights reserved.

  11. Uncovering the etiology of conversion disorder: insights from functional neuroimaging

    Science.gov (United States)

    Ejareh dar, Maryam; Kanaan, Richard AA

    2016-01-01

    Conversion disorder (CD) is a syndrome of neurological symptoms arising without organic cause, arguably in response to emotional stress, but the exact neural substrates of these symptoms and the underlying mechanisms remain poorly understood with the hunt for a biological basis afoot for centuries. In the past 15 years, novel insights have been gained with the advent of functional neuroimaging studies in patients suffering from CDs in both motor and nonmotor domains. This review summarizes recent functional neuroimaging studies including functional magnetic resonance imaging (fMRI), single photon emission computerized tomography (SPECT), and positron emission tomography (PET) to see whether they bring us closer to understanding the etiology of CD. Convergent functional neuroimaging findings suggest alterations in brain circuits that could point to different mechanisms for manifesting functional neurological symptoms, in contrast with feigning or healthy controls. Abnormalities in emotion processing and in emotion-motor processing suggest a diathesis, while differential reactions to certain stressors implicate a specific response to trauma. No comprehensive theory emerges from these clues, and all results remain preliminary, but functional neuroimaging has at least given grounds for hope that a model for CD may soon be found. PMID:26834476

  12. Diet, lifestyle, and molecular alterations that drive colorectal carcinogenesis

    NARCIS (Netherlands)

    Diergaarde, B.

    2004-01-01

    Environmental factors have been repeatedly implicated in the etiology of colorectal cancer, and much is known about the molecular events involved in colorectal carcinogenesis. The relationships between environmental risk factors and the molecular alterations that drive colorectal carcinogenesis are

  13. [Chronic diarrhea: etiologies and diagnostic evaluation].

    Science.gov (United States)

    Schoepfer, A

    2008-04-30

    Chronic diarrhea is defined as a decrease in fecal consistency lasting for four or more weeks. A myriad of disorders are associated with chronic diarrhea. In developed countries, chronic diarrhea is mostly caused by non-infectious diseases. There are four pathogenic mechanisms leading to chronic diarrhea: osmotic diarrhea, secretory diarrhea, inflammatory diarrhea, and dysmotility. Overlaps between these mechanisms are possible. A 72-hour fecal collection as well as the fasting test are important diagnostic tools to identify the underlying pathomechanism. The identification of the pathomechanism narrows down the possible etiologies of chronic diarrhea and allows therefore a cost-saving diagnostic workup. The endoscopy is well established in the workup of chronic diarrhea. This article gives an overview about the main causes and mechanisms leading to chronic diarrhea and proposes an algorithm for the diagnostic evalution.

  14. Acute Pancreatitis: Etiology, Pathology, Diagnosis, and Treatment.

    Science.gov (United States)

    Majidi, Shirin; Golembioski, Adam; Wilson, Stephen L; Thompson, Errington C

    2017-11-01

    Acute pancreatitis is a fascinating disease. In the United States, the two most common etiologies of acute pancreatitis are gallstones and excessive alcohol consumption. The diagnosis of acute pancreatitis is made with a combination of history, physical examination, computed tomography scan, and laboratory evaluation. Differentiating patients who will have a benign course of their pancreatitis from patients who will have severe pancreatitis is challenging to the clinician. C-reactive protein, pro-calcitonin, and the Bedside Index for Severity of Acute Pancreatitis appeared to be the best tools for the early and accurate diagnosis of severe pancreatitis. Early laparoscopic cholecystectomy is indicated for patients with mild gallstone pancreatitis. For patients who are going to have a prolonged hospitalization, enteral nutrition is preferred. Total parenteral nutrition should be reserved for patients who cannot tolerate enteral nutrition. Prophylactic antibiotics are not indicated for patients with pancreatic necrosis. Surgical intervention for infected pancreatic necrosis should be delayed as long as possible to improve patient outcomes.

  15. Premenstrual disorders: prevalence, etiology and impact.

    Science.gov (United States)

    Winer, Sharon A; Rapkin, Andrea J

    2006-04-01

    Millions of reproductive-age U.S. women experience premenstrual symptoms with varying degrees of severity. The large number and variety of premenstrual symptoms reported have made premenstrual disorders difficult to characterize. A number of mechanisms have been proposed to explain the etiology of premenstrual symptoms. Some women appear to have a genetic predisposition toward severe premenstrual symptoms or to have vulnerability traits that increase their risk. It has been suggested that 1 or more neurotransmitters and/or neurohormonal systems in certain women may have an abnormal response to normal fluctuations in gonadal hormones across the menstrual cycle. Premenstrual disorders can have a significant negative impact on a woman's quality of life and work productivity.

  16. Etiology of severe pneumonia in Ecuadorian children.

    Directory of Open Access Journals (Sweden)

    Sivani Jonnalagadda

    Full Text Available In Latin America, community-acquired pneumonia remains a major cause of morbidity and mortality among children. Few studies have examined the etiology of pneumonia in Ecuador.This observational study was part of a randomized, double blind, placebo-controlled clinical trial conducted among children aged 2-59 months with severe pneumonia in Quito, Ecuador. Nasopharyngeal and blood samples were tested for bacterial and viral etiology by polymerase chain reaction. Risk factors for specific respiratory pathogens were also evaluated.Among 406 children tested, 159 (39.2% had respiratory syncytial virus (RSV, 71 (17.5% had human metapneumovirus (hMPV, and 62 (15.3% had adenovirus. Streptococcus pneumoniae was identified in 37 (9.2% samples and Mycoplasma pneumoniae in three (0.74% samples. The yearly circulation pattern of RSV (P = 0.0003 overlapped with S. pneumoniae, (P = 0.03 with most cases occurring in the rainy season. In multivariable analysis, risk factors for RSV included younger age (adjusted odds ratio [aOR] = 1.9, P = 0.01 and being underweight (aOR = 1.8, P = 0.04. Maternal education (aOR = 0.82, P = 0.003, pulse oximetry (aOR = 0.93, P = 0.005, and rales (aOR = 0.25, P = 0.007 were associated with influenza A. Younger age (aOR = 3.5, P = 0.007 and elevated baseline respiratory rate were associated with HPIV-3 infection (aOR = 0.94, P = 0.03.These results indicate the importance of RSV and influenza, and potentially modifiable risk factors including undernutrition and future use of a RSV vaccine, when an effective vaccine becomes available.ClinicalTrials.gov NCT 00513929.

  17. VIRAL ETIOLOGY OF RECURRENT URINARY TRACT INFECTIONS

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    H. S. Ibishev

    2017-01-01

    Full Text Available Introduction. Recurrent urinary tract infection is an actual problem of modern urology.Objective. Complex investigation of urinary tract infections including viral etiology for chronic recurrent cystitis in womenMaterials and methods. The study included 31 women with recurrent infection of urinary tract. Inclusion criteria were the presence of lower urinary tract symptoms caused by infection, severe recurrent course, the lack of anatomical and functional disorders of the urinary tract, the absence of bacterial pathogens during the study, taking into account the culture of aerobic and anaerobic culturing techniques.Results. The analysis of the clinical manifestations, the dominant in the study group were pain and urgency to urinate at 100% and 90% of women surveyed, respectively, and less frequent urination were recorded in 16.1% of patients. In general clinical examination of urine in all cases identified leukocyturia and 90% of the hematuria. By using a polymerase chain reaction (PCR in midstream urine of all examined was verified 10 types of human papilloma virus (HPV with the predominance of 16 and 18 types . Considering the presence of recurrent infectious and inflammatory processes of the urinary tract, cystoscopy with bladder biopsy was performed for all patients. When histomorphological biopsies of all patients surveyed noted the presence of the specific characteristics of HPV: papillary hyperplasia with squamous koilocytosis, pale cytoplasm and shrunken kernels. When analyzing the results of PCR biopsy data corresponded with the results of PCR in midstream urine in all biopsies was detected HPV.Conclusions. Human papillomavirus infection may be involved in the development of viral cystitis. In the etiological structure of viral cystitis, both highly oncogenic and low oncogenic HPV types can act.

  18. Etiologic analysis of 100 anatomically failed dacryocystorhinostomies

    Science.gov (United States)

    Dave, Tarjani Vivek; Mohammed, Faraz Ali; Ali, Mohammad Javed; Naik, Milind N

    2016-01-01

    Background The aim of this study was to assess the etiological factors contributing to the failure of a dacryocystorhinostomy (DCR). Patients and methods Retrospective review was performed in 100 consecutive patients who were diagnosed with anatomically failed DCR at presentation to a tertiary care hospital over a 5-year period from 2010 to 2015. Patient records were reviewed for demographic data, type of past surgery, preoperative endoscopic findings, previous use of adjuvants such as intubation and mitomycin C, and intraoperative notes during the re-revision. The potential etiological factors for failure were noted. Results Of the 100 patients with failed DCRs, the primary surgery was an external DCR in 73 and endoscopic DCR in 27 patients. Six patients in each group had multiple revisions. The mean ages at presentation in the external and endoscopic groups were 39.41 years and 37.19 years, respectively. All patients presented with epiphora. The most common causes of failure were inadequate osteotomy (69.8% in the external group and 85.1% in the endoscopic group, P=0.19) followed by inadequate or inappropriate sac marsupialization (60.2% in the external group and 77.7% in the endoscopic group, P=0.16) and cicatricial closure of the ostium (50.6% in the external group and 55.5% in the endoscopic group, P=0.83). The least common causes such as ostium granulomas and paradoxical middle turbinate (1.37%, n=1) were noted in the external group only. Conclusion Inadequate osteotomy, incomplete sac marsupialization, and cicatricial closure of the ostium were the most common causes of failure and did not significantly differ in the external and endoscopic groups. Meticulous evaluation to identify causative factors for failure and addressing them are crucial for subsequent successful outcomes. PMID:27555748

  19. The Role of Fungi in the Etiology of Multiple Sclerosis

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    Julián Benito-León

    2017-10-01

    Full Text Available Multiple sclerosis (MS is a chronic inflammatory disorder of the central nervous system. Infectious triggers of MS are being actively investigated. Substantial evidence supports the involvement of the Epstein-Barr virus (EBV, though other viruses, bacteria, protists, and fungi are also being considered. Many links between fungi and diseases involving chronic inflammation have been found recently. Evidence linking MS and fungi is reviewed here. The HLA-DRB1*15 allele group is the most important genetic risk factor of MS, and is a risk factor in several other conditions linked to fungal infections. Many biomarkers of MS are consistent with fungal infections, such as IL-17, chitotriosidase, and antibodies against fungi. Dimethyl fumarate (DMF, first used as an industrial fungicide, was recently repurposed to reduce MS symptoms. Its mechanisms of action in MS have not been firmly established. The low risk of MS during childhood and its moderate association with herpes simplex virus type 2 suggest genital exposure to microbes (including fungi should be investigated as a possible trigger. Molecular and epidemiological evidence support a role for infections such as EBV in MS. Though fungal infections have not been widely studied in MS, many lines of evidence are consistent with a fungal etiology. Future microbiome and serological studies should consider fungi as a possible risk factor for MS, and future clinical studies should consider the effect of fungicides other than DMF on MS symptoms.

  20. Oxidative Stress and Liver Cancer: Etiology and Therapeutic Targets

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    Zhanpeng Wang

    2016-01-01

    Full Text Available Accumulating evidence has indicated that oxidative stress (OS is associated with the development of hepatocellular carcinoma (HCC. However, the mechanisms remain largely unknown. Normally, OS occurs when the body receives any danger signal—from either an internal or external source—and further induces DNA oxidative damage and abnormal protein expression, placing the body into a state of vulnerability to the development of various diseases such as cancer. There are many factors involved in liver carcinogenesis, including hepatitis B virus (HBV and hepatitis C virus (HCV infection, alcohol abuse, and nonalcoholic fatty liver disease (NAFLD. The relationship between OS and HCC has recently been attracting increasing attention. Therefore, elucidation of the impact of OS on the development of liver carcinogenesis is very important for the prevention and treatment of liver cancer. This review focuses mainly on the relationship between OS and the development of HCC from the perspective of cellular and molecular mechanisms and the etiology and therapeutic targets of HCC.

  1. Amelogenesis imperfecta and anterior open bite: Etiological, classification, clinical and management interrelationships.

    Science.gov (United States)

    Alachioti, Xanthippi Sofia; Dimopoulou, Eleni; Vlasakidou, Anatoli; Athanasiou, Athanasios E

    2014-01-01

    Although amelogenesis imperfecta is not a common dental pathological condition, its etiological, classification, clinical and management aspects have been addressed extensively in the scientific literature. Of special clinical consideration is the frequent co-existence of amelogenesis imperfecta with the anterior open bite. This paper provides an updated review on amelogenesis imperfecta as well as anterior open bite, in general, and documents the association of these two separate entities, in particular. Diagnosis and treatment of amelogenesis imperfecta patients presenting also with anterior open bite require a lengthy, comprehensive and multidisciplinary approach, which should aim to successfully address all dental, occlusal, developmental, skeletal and soft tissue problems associated with these two serious clinical conditions.

  2. Disordered gambling: etiology, trajectory, and clinical considerations.

    Science.gov (United States)

    Shaffer, Howard J; Martin, Ryan

    2011-01-01

    Gambling-related research has advanced rapidly during the past 20 years. As a result of expanding interest in pathological gambling (PG), stakeholders (e.g., clinicians, regulators, and policy makers) have a better understanding of excessive gambling, including its etiology (e.g., neurobiological/neurogenetic, psychological, and sociological factors) and trajectory (e.g., initiation, course, and adaptation to gambling exposure). In this article, we examine these advances in PG-related research and then consider some of the clinical implications of these advances. We consider criteria changes for PG recently proposed by the DSM-V Impulse Control Work Group for the Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition (DSM-V). We also review how clinicians can more accurately and efficiently diagnose clients seeking help for gambling-related problems by utilizing brief screens. Finally, we consider the importance of future research that can identify behavioral markers for PG. We suggest that identifying these markers will allow clinicians to make earlier diagnoses, recommend targeted treatments, and advance secondary prevention efforts. © 2011 by Annual Reviews. All rights reserved

  3. Understanding and determining the etiology of autism.

    Science.gov (United States)

    Currenti, Salvatore A

    2010-03-01

    Worldwide, the rate of autism has been steadily rising. There are several environmental factors in concert with genetic susceptibilities that are contributing to this rise. Impaired methylation and mutations of mecp2 have been associated with autistic spectrum disorders, and related Rett syndrome. Genetic polymorphisms of cytochrome P450 enzymes have also been linked to autism, specifically CYP27B1 that is essential for proper vitamin D metabolism. Vitamin D is important for neuronal growth and neurodevelopment, and defects in metabolism or deficiency have been implicated in autistic individuals. Other factors that have been considered include: maternally derived antibodies, maternal infection, heavy metal exposure, folic acid supplementation, epigenetics, measles, mumps, rubella vaccination, and even electromagnetic radiation. In each case, the consequences, whether direct or indirect, negatively affect the nervous system, neurodevelopment, and environmental responsive genes. The etiology of autism is a topic of controversial debate, while researchers strive to achieve a common objective. The goal is to identify the cause(s) of autism to understand the complex interplay between environment and gene regulation. There is optimism that specific causes and risk factors will be identified. The results of future investigations will facilitate enhanced screening, prevention, and therapy for "at risk" and autistic patients.

  4. Etiology and immunology of infectious bronchitis virus

    Directory of Open Access Journals (Sweden)

    LF Caron

    2010-06-01

    Full Text Available Infectious bronchitis virus (IBV of chickens is currently one of the main diseases associated with respiratory syndrome in domestic poultry, as well as with losses related to egg production. The etiological agent is a coronavirus, which presents structural differences in the field, mainly in the S1 spike protein. The immune response against this virus is complicated by the few similarities among serotypes. Environmental and management factors, as well as the high mutation rate of the virus, render it difficult to control the disease and compromise the efficacy of the available vaccines. Bird immune system capacity to respond to challenges depend on the integrity of the mucosae, as an innate compartment, and on the generation of humoral and cell-mediated adaptive responses, and may affect the health status of breeding stocks in the medium run. Vaccination of day-old chicks in the hatchery on aims at eliciting immune responses, particularly cell-mediated responses that are essential when birds are first challenged. Humoral response (IgY and IgA are also important for virus clearance in subsequent challenges. The presence of antibodies against the S1 spike protein in 3- to 4-week-old birds is important both in broilers and for immunological memory in layers and breeders.

  5. Papilledema: epidemiology, etiology, and clinical management

    Directory of Open Access Journals (Sweden)

    Rigi M

    2015-08-01

    Full Text Available Mohammed Rigi,1 Sumayya J Almarzouqi,2 Michael L Morgan,2 Andrew G Lee2–4 1Robert Cizik Eye Clinic, University of Texas, 2Department of Ophthalmology, Houston Methodist Hospital, Blanton Eye Institute, 3Baylor College of Medicine, 4Departments of Ophthalmology, Neurology, and Neurosurgery, Weill Cornell Medical College, Houston, UTMB Galveston, UT MD Anderson Cancer Center, Houston, TX, The University of Iowa Hospitals and Clinics, Iowa City, IA, USA Abstract: Papilledema is optic disc swelling due to high intracranial pressure. Possible conditions causing high intracranial pressure and papilledema include intracerebral mass lesions, cerebral hemorrhage, head trauma, meningitis, hydrocephalus, spinal cord lesions, impairment of cerebral sinus drainage, anomalies of the cranium, and idiopathic intracranial hypertension (IIH. Irrespective of the cause, visual loss is the feared morbidity of papilledema, and the main mechanism of optic nerve damage is intraneuronal ischemia secondary to axoplasmic flow stasis. Treatment is directed at correcting the underlying cause. In cases where there is no other identifiable cause for intracranial hypertension (ie, IIH the available options include both medical and surgical modalities. Weight loss and diuretics remain the mainstays for treatment of IIH, and surgery is typically reserved for patients who fail, are intolerant to, or non-compliant with maximum medical therapy. Keywords: papilledema, intracranial hypertension, idiopathic intracranial hypertension, epidemiology, papilledema management, papilledema etiology, acetazolamide, optic nerve sheath fenestration, ventriculoperitoneal shunt, lumboperitoneal shunt, venous sinus stenting

  6. Molar Incisor Hypomineralization, Prevalence, and Etiology

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    Sulaiman Mohammed Allazzam

    2014-01-01

    Full Text Available Aim. To evaluate the prevalence and possible etiological factors associated with molar incisor hypomineralization (MIH among a group of children in Jeddah, Saudi Arabia. Methods. A group of 8-12-year-old children were recruited (n=267  from the Pediatric Dental Clinics at the Faculty of Dentistry, King Abdulaziz University. Children had at least one first permanent molar (FPM, erupted or partially erupted. Demographic information, children’s medical history, and pregnancy-related data were obtained. The crowns of the FPM and permanent incisors were examined for demarcated opacities, posteruptive breakdown (PEB, atypical restorations, and extracted FPMs. Children were considered to have MIH if one or more FPM with or without involvement of incisors met the diagnostic criteria. Results. MIH showed a prevalence of 8.6%. Demarcated opacities were the most common form. Maxillary central incisors were more affected than mandibular (P=0.01. The condition was more prevalent in children with history of illnesses during the first four years of life including tonsillitis (P=0.001, adenoiditis (P=0.001, asthma (P=0.001, fever (P=0.014, and antibiotics intake (P=0.001. Conclusions. The prevalence of MIH is significantly associated with childhood illnesses during the first four years of life including asthma, adenoid infections, tonsillitis, fever, and antibiotics intake.

  7. Fibromyalgia Syndrome: Etiology, Pathogenesis, Diagnosis, and Treatment

    Science.gov (United States)

    Bellato, Enrico; Marini, Eleonora; Castoldi, Filippo; Barbasetti, Nicola; Mattei, Lorenzo; Bonasia, Davide Edoardo; Blonna, Davide

    2012-01-01

    Fibromyalgia syndrome is mainly characterized by pain, fatigue, and sleep disruption. The etiology of fibromyalgia is still unclear: if central sensitization is considered to be the main mechanism involved, then many other factors, genetic, immunological, and hormonal, may play an important role. The diagnosis is typically clinical (there are no laboratory abnormalities) and the physician must concentrate on pain and on its features. Additional symptoms (e.g., Raynaud's phenomenon, irritable bowel disease, and heat and cold intolerance) can be associated with this condition. A careful differential diagnosis is mandatory: fibromyalgia is not a diagnosis of exclusion. Since 1990, diagnosis has been principally based on the two major diagnostic criteria defined by the ACR. Recently, new criteria have been proposed. The main goals of the treatment are to alleviate pain, increase restorative sleep, and improve physical function. A multidisciplinary approach is optimal. While most nonsteroidal anti-inflammatory drugs and opioids have limited benefit, an important role is played by antidepressants and neuromodulating antiepileptics: currently duloxetine (NNT for a 30% pain reduction 7.2), milnacipran (NNT 19), and pregabalin (NNT 8.6) are the only drugs approved by the US Food and Drug Administration for the treatment of fibromyalgia. In addition, nonpharmacological treatments should be associated with drug therapy. PMID:23213512

  8. Pain and endometriosis: Etiology, impact, and therapeutics

    Directory of Open Access Journals (Sweden)

    Robert N. Taylor

    2012-12-01

    Full Text Available The association of pain and endometriosis was recognized with the first definitive published reports of this disorder. Unfortunately, the precise etiologies and pathways leading to nociception and pain symptoms in endometriosis remain poorly understood, and as a result, effective therapeutic interventions are lacking with consequent profound effects on affected women’s quality of life. In this opinion paper we summarize selected proceedings presented at the 28th Annual Meeting of the European Society of Human Reproduction and Embryology (ESHRE in Istanbul, Turkey, and review the clinical and translational evidence of chronic pain, neurogenesis, and the pernicious impact of dyspareunia on women with symptomatic endometriosis. The effectiveness of medical treatments is critically assessed and the findings indicate that good therapeutic options are available with extant medications effective in some sub-groups of women with endometriosis, many of which are affordable globally. Nevertheless, new management strategies and drugs need to be developed to increase the options of all afflicted women to minimize and ideally eradicate painful symptoms of endometriosis. However, only by elucidating distinctions among sub-groups with specific symptoms, suggesting different mechanisms, are we likely to derive truly successful therapeutic strategies.

  9. The Pathophysiology and Etiology of Vaginismus

    Directory of Open Access Journals (Sweden)

    Cherng-Jye Jeng

    2004-03-01

    Full Text Available Vaginismus is defined as an involuntary spasm of the pelvic muscles surrounding the outer third of the vagina, especially the perineal muscles and the levator ani muscles. Its severe form usually makes penetration virtually impossible and causes a severe, burning pain, and leads to unconsummated marriage. There appears to be basic agreement that vaginismus is a psychosociologic disorder with phobic elements resulting from actual or imagined negative experiences with penetration attempts. Fear and anxiety concerning penetration is expressed physiologically via the involuntary vaginal muscle spasm that characterizes vaginismus. Since 1547, when vaginismus was first described, thousands of research papers have been published on this female sexual disorder. However, the etiology of vaginismus remains controversial. Women with vaginismus generally experience shame, disgust and dislike toward their genitals. They frequently have or have had other phobias. They are usually overprotected by their fathers and have been “good girls” since childhood. Their sexual partners are usually kind, gentle, considerate and passive “nice guys”. The male partner's lack of aggressiveness actually leads to unconsummation of the marriage. The sexually secure husband can usually overcome mild degrees of vaginismus by persistent but firm penile insertion. For moderate to severe degrees of vaginismus, medical intervention is usually necessary to lead to consummation of the marriage.

  10. Etiological Aspects of Human Trafficking in Kosovo

    Directory of Open Access Journals (Sweden)

    Emine Abdyli

    2017-08-01

    Full Text Available Human trafficking is considered one of the most serious criminal offences, which is presented as a contemporary form of slavery and which implies the most brutal violation of basic human rights, which are guaranteed by international and law and national law. The phenomenon of human trafficking is present in many countries in transition (such as Kosovo, namely in those countries which were affected by internal political, economic, social, educational, etc. changes, and in such situations the perpetrators of this offense are in a very favorable position to victimize society. Therefore, this paper will focus on external criminogenic factors that influence the growth of this negative phenomenon, including the difficult economic situation, poverty and unemployment, poor housing, migration of people, domestic violence, the impact of mass media in society, lack of border control and insufficient effectiveness of institutions to deal with law enforcement. The paper is based on literature review, statistical data and interviews by treating the subject theoretically, legislatively and practically. To successfully fight against human trafficking, relevant authorities should more closely approach the etiological treatment of this negative phenomenon.

  11. A etiological factors in mechanical intestinal obstruction

    International Nuclear Information System (INIS)

    Asad, S.; Khan, H.; Khan, I.A.; Ghaffar, S.; Rehman, Z.U.

    2012-01-01

    Background: Intestinal obstruction occurs when the normal flow of intestinal contents is interrupted. The most frequent causes of intestinal obstruction are postoperative adhesions and hernias, which cause extrinsic compression of the intestine. Less frequently, tumours or strictures of the bowel can cause intrinsic blockage. Objective of the study was to find out the various a etiological factors of mechanical intestinal obstruction and to evaluate the morbidity and mortality in adult patients presenting to Surgical 'A' unit of Ayub teaching hospital with mechanical intestinal obstruction. Methods: This cross-sectional study was conducted from March 2009 to September, 2009. All patients presenting with intestinal obstruction and were above the age of 12 years were included in the study. Patients with non-mechanical obstruction were excluded from the study and those who responded to conservative measures were also excluded. Results: A total of 36 patients with age ranging from 12 to 80 years (Mean age 37.72+-19.74 years) and male to female ratio of 1.77:1, were treated for mechanical intestinal obstruction. The most common cause for mechanical intestinal obstruction was adhesions (36.1%). Intestinal tuberculosis was the second most common cause (19.4%), while hernias and sigmoid volvulus affected 13.9% patients each. Malignancies were found in 5.6% cases. Conclusion: Adhesions and Tuberculosis are the leading causes of mechanical intestinal obstruction in Pakistan. Although some patients can be treated conservatively, a substantial portion requires immediate surgical intervention. (author)

  12. Etiology and audiological outcomes at 3 years for 364 children in Australia.

    Directory of Open Access Journals (Sweden)

    Hans-Henrik M Dahl

    Full Text Available Hearing loss is an etiologically heterogeneous trait with differences in the age of onset, severity and site of lesion. It is caused by a combination of genetic and/or environmental factors. A longitudinal study to examine the efficacy of early intervention for improving child outcomes is ongoing in Australia. To determine the cause of hearing loss in these children we undertook molecular testing of perinatal "Guthrie" blood spots of children whose hearing loss was either detected via newborn hearing screening or detected later in infancy. We analyzed the GJB2 and SLC26A4 genes for the presence of mutations, screened for the mitochondrial DNA (mtDNA A1555G mutation, and screened for congenital CMV infection in DNA isolated from dried newborn blood spots. Results were obtained from 364 children. We established etiology for 60% of children. One or two known GJB2 mutations were present in 82 children. Twenty-four children had one or two known SLC26A4 mutations. GJB2 or SLC26A4 changes with unknown consequences on hearing were found in 32 children. The A1555G mutation was found in one child, and CMV infection was detected in 28 children. Auditory neuropathy spectrum disorder was confirmed in 26 children whose DNA evaluations were negative. A secondary objective was to investigate the relationship between etiology and audiological outcomes over the first 3 years of life. Regression analysis was used to investigate the relationship between hearing levels and etiology. Data analysis does not support the existence of differential effects of etiology on degree of hearing loss or on progressiveness of hearing loss.

  13. Comprehensive Psychiatric Evaluation

    Science.gov (United States)

    ... Facts for Families Guide Facts for Families - Vietnamese Comprehensive Psychiatric Evaluation No. 52; Updated October 2017 Evaluation ... with serious emotional and behavioral problems need a comprehensive psychiatric evaluation. Comprehensive psychiatric evaluations usually require a ...

  14. Children's hypertext comprehension

    NARCIS (Netherlands)

    Segers, P.C.J.; Segers, E.; Broek, P. van den

    2017-01-01

    The present chapter gives an overview of the literature on hypertext comprehension, children's hypertext comprehension and individual variation therein, ending with a perspective for future research. Hypertext comprehension requires the reader to make bridging inferences between the different parts

  15. Etiology, Severity and Recurrence of Acute Pancreatitis in Southern Taiwan

    Directory of Open Access Journals (Sweden)

    Chun-Hao Chen

    2006-01-01

    Conclusion: Alcoholic pancreatitis was the major etiology of acute pancreatitis in southern Taiwan, exhibiting a strong male predominance and higher risk of severe CT grading. Abnormal serum triglyceride was independently associated with the severity of acute pancreatitis. Alcoholic pancreatitis had a higher risk of recurrence than other etiologies.

  16. Heart failure etiology impacts survival of patients with heart failure

    DEFF Research Database (Denmark)

    Pecini, Redi; Møller, Daniel Vega; Torp-Pedersen, Christian

    2010-01-01

    BACKGROUND: The impact of heart failure (HF) etiology on prognosis of HF is not well known. METHODS: 3078 patients (median age 75years, 61% male) hospitalized with HF were studied. Patients were classified into six etiology groups: hypertension (HTN, 13.9%), ischemic heart disease (IHD, 42...

  17. Epidemiologie et etiologies des epistaxis dans notre pratique: A ...

    African Journals Online (AJOL)

    Introduction: A frequent ailment in ENT, the epistaxis is an emergency that can put the vital prognosis at stake. An adequate follow up care deserves some knowledge of etiology. Objectives: Study the epidemiological and etiological aspects of the epistaxis. Methodology: A retrospective and descriptive study conducted on ...

  18. Porcine epidemic diarrhea virus infection: Etiology, epidemiology, pathogenesis and immunoprophylaxis.

    Science.gov (United States)

    Jung, Kwonil; Saif, Linda J

    2015-05-01

    Porcine epidemic diarrhea virus (PEDV), a member of the genera Alphacoronavirus in the family Coronaviridae, causes acute diarrhea/vomiting, dehydration and high mortality in seronegative neonatal piglets. For the last three decades, PEDV infection has resulted in significant economic losses in the European and Asian pig industries, but in 2013-2014 the disease was also reported in the US, Canada and Mexico. The PED epidemic in the US, from April 2013 to the present, has led to the loss of more than 10% of the US pig population. The disappearance and re-emergence of epidemic PED indicates that the virus is able to escape from current vaccination protocols, biosecurity and control systems. Endemic PED is a significant problem, which is exacerbated by the emergence (or potential importation) of multiple PEDV variants. Epidemic PEDV strains spread rapidly and cause a high number of pig deaths. These strains are highly enteropathogenic and acutely infect villous epithelial cells of the entire small and large intestines although the jejunum and ileum are the primary sites. PEDV infections cause acute, severe atrophic enteritis accompanied by viremia that leads to profound diarrhea and vomiting, followed by extensive dehydration, which is the major cause of death in nursing piglets. A comprehensive understanding of the pathogenic characteristics of epidemic or endemic PEDV strains is needed to prevent and control the disease in affected regions and to develop an effective vaccine. This review focuses on the etiology, epidemiology, disease mechanisms and pathogenesis as well as immunoprophylaxis against PEDV infection. Copyright © 2015 Elsevier Ltd. All rights reserved.

  19. [Etiologic spectrum of solitary constitutional syndrome].

    Science.gov (United States)

    Hernández Hernández, J L; Matorras Galán, P; Riancho Moral, J A; González-Macías, J

    2002-07-01

    To know the spectrum of diseases responsible for the solitary constitutional syndrome in our setting. This syndrome was defined as a clinical picture characterized by the presence of asthenia, anorexia, and weight loss of at least 5% of body weight in the last six months, not associated with any other symptom or sign suggesting the diagnosis of an organ or system disease. All patients diagnosed of the solitary constitutional syndrome (328) in a tertiary-care level teaching hospital between January 1991 and December 1996. Fifty-two (170) percent of patients with solitary constitutional syndrome were males and 48% (158) females. The mean age was 65.4%, ranging from 15 to 97 years. The average of the monthly estimated weight loss was 3 to 4 kilograms. A total of 115 (35%) malignant neoplasms and 5 (1.5%) benign tumors were diagnosed. The most common malignant tumors corresponded to the digestive tract (51.3% of the total malignant tumors). The second cause in frequency of the solitary constitutional syndrome corresponded to psychiatric diseases, with a total of 80 patients (24.3%). A total of 116 non-neoplastic organic diseases were detected, with digestive tract diseases --mainly peptic disease-- being the most common cause in this group. After follow-up, only in twenty cases were we unable to detect the underlying disease responsible for the syndrome. In nine of these, the solitary constitutional syndrome was self-limited. Forty-four percent of patients had at least another concomitant disease and in 24% of patients more than one associated condition was found. The most common diseases responsible for the solitary constitutional syndrome were, by decreasing frequency, malignant tumors, psychiatric disorders, and non-malignant organic diseases located in the digestive tract. A better knowledge of the etiological spectrum of this syndrome might be useful for a more efficient management of these patients.

  20. Aminoacidopathies: Prevalence, Etiology, Screening, and Treatment Options.

    Science.gov (United States)

    Wasim, Muhammad; Awan, Fazli Rabbi; Khan, Haq Nawaz; Tawab, Abdul; Iqbal, Mazhar; Ayesha, Hina

    2018-04-01

    Inborn errors of metabolism (IEMs) are a group of inherited metabolic disorders which are caused by mutations in the specific genes that lead to impaired proteins or enzymes production. Different metabolic pathways are perturbed due to the deficiency or lack of enzymes. To date, more than 500 IEMs have been reported with most of them being untreatable. However, fortunately 91 such disorders are potentially treatable, if diagnosed at an earlier stage of life. IEMs have been classified into different categories and one class of IEMs, characterized by the physiological disturbances of amino acids is called as aminoacidopathies. Out of 91 treatable IEM, thirteen disorders are amino acid related. Aminoacidopathies can be detected by chromatography and mass spectrometry based analytical techniques (e.g., HPLC, GC-MS, LC-MS/MS) for amino acid level changes, and through genetic assays (e.g., PCR, TaqMan Genotyping, DNA sequencing) at the mutation level in the corresponding genes. Hence, this review is focused to describe thirteen common aminoacidopathies namely: Phenylketonuria (PKU), Maple Syrup Urine Disease (MSUD), Homocystinuria/Methylene Tetrahydrofolate Reductase (MTHFR) deficiency, Tyrosinemia type II, Citrullinemia type I and type II, Argininosuccinic aciduria, Carbamoyl Phosphate Synthetase I (CPS) deficiency, Argininemia (arginase deficiency), Hyperornithinemia-Hyperammonemia-Homocitrullinuria (HHH) syndrome, N-Acetylglutamate Synthase (NAGS) deficiency, Ornithine Transcarbamylase (OTC) deficiency, and Pyruvate Dehydrogenase (PDH) complex deficiency. Furthermore, the etiology, prevalence and commonly used analytical techniques for screening of aminoacidopathies are briefly described. This information would be helpful to researchers and clinicians especially from developing countries to initiate newborn screening programs for aminoacidopathies.

  1. [Causes of emergency dizziness stratified by etiology].

    Science.gov (United States)

    Qiao, Wenying; Liu, Jianguo; Zeng, Hong; Liu, Yugeng; Jia, Weihua; Wang, Honghong; Liu, Bo; Tan, Jing; Li, Changqing

    2014-06-03

    To explore the causes of emergency dizziness stratified to improve the diagnostic efficiency. A total of 1 857 cases of dizziness at our emergency department were collected and their etiologies stratified by age and gender. The top three diagnoses were benign paroxysmal positional vertigo (BPPV, 31.7%), hypertension (24.0%) and posterior circulation ischemia (PCI, 20.5%). Stratified by age, the main causes of dizziness included BPPV (n = 6), migraine-associated vertigo (n = 2), unknown cause (n = 1) for the group of vertigo (14.5%) and neurosis (7.3%) for 18-44 years; BPPV (36.8%), hypertension (22.4%) and migraine-associated vertigo (11.2%) for 45-59 years; hypertension (30.8%), PCI (29.8%) and BPPV (22.9%) for 60-74 years; PCI (30.7%), hypertension (28.6%) and BPPV (25.5%) for 75-92 years. BPPV, migraine and neurosis were more common in females while hypertension and PCI predominated in males (all P hypertension, neurosis and migraine showed the following significant demographic features: BPPV, PCI, hypertension, neurosis and migraine may be the main causes of dizziness. BPPV should be considered initially when vertigo was triggered repeatedly by positional change, especially for young and middle-aged women. And the other common causes of dizziness were migraine-associated vertigo, neurosis and Meniere's disease.Hypertension should be screened firstly in middle-aged and elderly patients presenting mainly with head heaviness and stretching. In elders with dizziness, BPPV is second in constituent ratio to PCI and hypertension.In middle-aged and elderly patients with dizziness, psychological factors should be considered and diagnosis and treatment should be offered timely.

  2. [Chlamydia pneumoniae--etiology of ophthalmia neonatorum].

    Science.gov (United States)

    Krásný, J; Borovanská, J; Hrubá, D

    2003-07-01

    The authors observed mucous discharge in palpebral aperture, accompanied by a different degree of effusion of eyelids and chemosis of conjunctivae, particularly the tarsal ones, in 12 physiological newborns. Chlamydia pneumoniae proved to be the etiological agent in the newborn ophthalmia. The eye infection was not detected in the same period of time and in the same maternity hospital in the period of observation from September 1999 to March 2001. The detection of Chlamydia pneumoniae was performed in conjunctiva smears. The impression films on slides were examined by the method of indirect immunofluorescence with the use of specific monoclonal antibodies (medac, Germany). In the early stages the secretion included a sanguineous component, which was then changing into a mucoid or mucopurulent form. The character of conjunctival symptoms was changing in the course of inflammation. Effusion of the lower transitory fold (plica) was gradually accompanied by a picture of pseudofollicular changes on the tarsal conjunctiva. Clarithromycin in the form of syrup at daily doses of 15 mg/kg/day for the period of two weeks offered an efficient therapy of the affection. Control smears after 14 days were always negative and, at the same time, the pathological finding on the conjunctivae disappeared. The nasolacrimal obstruction was the only complication of this chlamydia infection, taking place in seven sucklings, i.e. in 58%. The passage through lacrimal drainage system reappeared in all the affected infants until they reached one year of age. The remaining question to be answered is the way the newborns encountered the infection. A nosocomial infection may be the case, but Chlamydia pneumoniae could also be present in the urogenital tract of mothers and transferred to the newborn via the birth canal similarly as is the case of Chlamydia trachomatis infection. The mode of infection deserves further investigation.

  3. Etiologic agents of cervicovaginitis in Turkish women.

    Science.gov (United States)

    Ozturk, Cihadiye E; Ozdemir, Ismail; Yavuz, Tevfik; Kaya, Demet; Behcet, Mustafa

    2006-10-01

    To investigate the distribution of microbiologic agents causing cervicovaginitis. We conducted the study between October 2002 and December 2004 in Abant Izzet Baysal University, Duzce School of Medicine Hospital, Turkey. The samples were obtained from the posterior vaginal fornix and cervix by swabs in 828 patients. Direct microscopic examination, culture and enzyme immune assay (EIA) methods were performed in all patients for diagnosis of microbiologic agents. Gardnerella vaginalis (G. vaginalis) were diagnosed in 254 (30.7%) patients, Candida albicans (C. albicans) in 152 (18.4%), Candida glabrata (C. glabrata) in 36 (4.3%), Candida species in 52 (6.3%), Staphylococcus aureus (S. aureus) in 62 (7.5%), Streptococcus group B in 28 (3.4%), Escherichia coli (E. coli) in 42 (5.1%), Klebsiella species in 24 (2.9%), and Streptococcus group D in 8 (1%) patients in culture. Less frequent enterobacteria in 30 (3.6%) were: Pseudomonas species, Proteus species Enterobacter species, Hafnia alvei and Nonfermenter species. Neisseria gonorrheae (N. gonorrheae) was detected in one patient (0.1%) in culture. The Chlamydia trachomatis (C. trachomatis) antigen was detected by EIA methods in 130 (15.7%) patients and Trichomonas vaginalis (T. vaginalis) was observed in 8 (1%) patients by direct microscopic examination. Performing the etiologic diagnosis of cervicovaginitis is necessary in order to take appropriate therapeutic and preventive measures. Therefore, we recommend G. vaginalis, C. albicans and C. trachomatis should be investigated in patients having a diagnosis of cervicovaginitis in our population, since these were detected in a considerable number of cases. Additionally, C. glabrata and T. vaginalis should be kept in mind as possible pathogens.

  4. [Definition, etiology, classification and presentation forms].

    Science.gov (United States)

    Mas Garriga, Xavier

    2014-01-01

    Osteoarthritis is defined as a degenerative process affecting the joints as a result of mechanical and biological disorders that destabilize the balance between the synthesis and degradation of joint cartilage, stimulating the growth of subchondral bone; chronic synovitis is also present. Currently, the joint is considered as a functional unit that includes distinct tissues, mainly cartilage, the synovial membrane, and subchondral bone, all of which are involved in the pathogenesis of the disease. Distinct risk factors for the development of osteoarthritis have been described: general, unmodifiable risk factors (age, sex, and genetic makeup), general, modifiable risk factors (obesity and hormonal factors) and local risk factors (prior joint anomalies and joint overload). Notable among the main factors related to disease progression are joint alignment defects and generalized osteoarthritis. Several classifications of osteoarthritis have been proposed but none is particularly important for the primary care management of the disease. These classifications include etiological (primary or idiopathic forms and secondary forms) and topographical (typical and atypical localizations) classifications, the Kellgren and Lawrence classification (radiological repercussions) and that of the American College of Rheumatology for osteoarthritis of the hand, hip and knee. The prevalence of knee osteoarthritis is 10.2% in Spain and shows a marked discrepancy between clinical and radiological findings. Hand osteoarthritis, with a prevalence of symptomatic involvement of around 6.2%, has several forms of presentation (nodal osteoarthritis, generalized osteoarthritis, rhizarthrosis, and erosive osteoarthritis). Symptomatic osteoarthritis of the hip affects between 3.5% and 5.6% of persons older than 50 years and has different radiological patterns depending on femoral head migration. Copyright © 2014 Elsevier España, S.L. All rights reserved.

  5. The Etiology of Vaginal Discharge Syndrome in Zimbabwe Results from the Zimbabwe STI Etiology Study.

    Science.gov (United States)

    Chirenje, Z Mike; Dhibi, Nicholas; Handsfield, H Hunter; Gonese, Elizabeth; Barr, Beth Tippett; Gwanzura, Lovemore; Latif, Ahmed S; Maseko, Dumisili Venessa; Kularatne, Ranmini S; Tshimanga, Mufuta; Kilmarx, Peter H; Machiha, Anna; Mugurungi, Owen; Rietmeijer, Cornelis A

    2017-11-29

    Symptomatic vaginal discharge is a common gynecological condition managed syndromically in most developing countries. In Zimbabwe, women presenting with symptomatic vaginal discharge are treated with empirical regimens that commonly cover both sexually transmitted infections (STI) and reproductive tract infections, typically including a combination of an intramuscular injection of kanamycin, and oral doxycycline and metronidazole regimens. This study was conducted to determine the current etiology of symptomatic vaginal discharge and assess adequacy of current syndromic management guidelines. We enrolled 200 women with symptomatic vaginal discharge presenting at 6 STI clinics in Zimbabwe. Microscopy was used to detect bacterial vaginosis and yeast infection. Nucleic acid amplifications tests were used to detect Neisseria gonorrhoeae, Chlamydia trachomatis, Trichomonas vaginalis and Mycoplasma genitalium. In addition, serologic testing was performed to detect HIV infection. Of the 200 women, 146 (73%) had an etiology detected, including bacterial vaginosis (24.7%); N. gonorrhoeae (24.0%); yeast infection (20.7%); T. vaginalis (19.0%); C. trachomatis (14.0%) and M. genitalium (7.0%). Among women with STIs (N=90), 62 (68.9%) had a single infection, 18 (20.0%) had a dual infection and 10 (11.1%) had three infections.Of 158 women who consented to HIV testing, 64 (40.5%) were HIV infected.The syndromic management regimen covered 115 (57.5%) of the women in the sample who had gonorrhea, chlamydia, M. genitalium, or bacterial vaginosis, while 85 (42.5%) of women were treated without such diagnosis. Among women presenting with symptomatic vaginal discharge, bacterial vaginosis was the most common etiology and gonorrhea was the most frequently detected STI. The current syndromic management algorithm is suboptimal for coverage of women presenting with symptomatic vaginal discharge; addition of point of care testing could compliment the effectiveness of the syndromic approach.

  6. Sarcomas: etiología y síntomas Sarcomas: etiology and symptoms

    Directory of Open Access Journals (Sweden)

    Roberto Gabriel Albín Cano

    2012-07-01

    Full Text Available Debido a la amplia diversidad de sarcomas, casi son inexistentes los textos que incluyen todas las variedades de este tipo de cáncer. Generalmente, su descripción y revisión se incluyen en las del sistema de órganos afectados específicamente, y la literatura que los aborda está muy fragmentada en las diferentes especialidades médicas. Se realiza una revisión bibliográfica sobre la etiología y síntomas de la mayor parte de los diferentes tipos de sarcomas. Es objetivo de esta revisión, lograr unir la información más actual disponible acerca de la etiología y síntomas de los sarcomas. Se han identificado diferentes factores de riesgo y factores etiológicos, tanto genéticos, infecciosos, como ambientales. Los grandes descubrimientos en relación con los mecanismos genéticos involucrados en los diferentes tipos de sarcoma, han abierto un camino de inestimable valor para introducir nuevos tratamientos, que incluyen ensayos con anticuerpos monoclonales y nuevos fármacos de terapia génica.

    Due to the wide diversity of sarcomas, almost no texts include all varieties of this type of cancer. Generally, their description and review is included in those of the specifically affected organ system, and the literature containing that information is very fragmented in different medical specialties. We performed a literature review on the etiology and symptoms of most types of sarcomas. It is aimed at achieving a recompilation of most current information available on the causes and symptoms of sarcomas. Different risks and etiologic factors have been identified regarding genetics, infections, and environment. The great discoveries regarding genetic mechanisms involved in different types of sarcomas, have opened an invaluable way to introduce new treatments, including monoclonal antibodies and new drugs of gene therapy.

  7. Temporal lobe epilepsy: etiology, fisiopathogeny and magnetic resonance imaging

    International Nuclear Information System (INIS)

    Michaux, Ruben P.

    2003-01-01

    The seizures constitute one of the first causes of consultation in neurology and medical emergencies in all etary groups. The partial seizures are the most frequent form of clinical presentation specially those originated in the temporal lobes. In this revision article the author offers an update of the fisiopathogeny, the etiology and MRI findings in temporal epilepsy, and actualizes concepts derived from basic sciences. Selected cases of frequent pathologic causes contribute to illustrate this paper. In the physiopathology of the generalized seizures, alterations of the nets or thalamus cortical neuronal circuits and anomaly in the ionic canals functions have been demonstrated; in the partial seizures, particularly in the Mesial Temporal Sclerosis, alterations in the conformation of excitatory neo circuits have been verified. There are evidences of specific genetic seizures that express or appear sometime after birth, and others acquired, in which there is a variable time lapse between the action of a determined noxa and the installation of the clinical status, which suggest the existence of an epileptogenic mechanism as a gradual process in its development, and open a promissory field of investigation in search of preventive therapies. In many cases of acquired lesions seizures are related to the excitotoxicity mediated by glutamate as a possible trigger of the process. Besides, neuronal division has been demonstrated in the hippocampus, which could explain a neurogenic mechanism in the development of the seizures. The pathologic molecular findings in cortical malformations and the function of the glial cells in the neuronal homeostasis, contribute with data that sustain the neuro genesis of the seizures. The MRI provides a valuable information in Mesial Temporal Sclerosis, CNS tumoral lesions, neuronal migration disorders, vascular malformation, trauma and infections. Conclusion. The knowledge derived from areas as molecular biology, genetic and

  8. Etiology of thyroid cancer: a review

    International Nuclear Information System (INIS)

    Narkar, A.A.

    1999-01-01

    Thyroid cancer, although a relatively rare tumor, is the most common cancer of the endocrine glands. The identification of genetic factors important in the pathogesis of thyroid cancer could provide molecular tools for a better differential diagnosis between the different histotypes. Characterisation of mechanisms by which mutated proteins transduce mitogenic and de-differentiating signals might suggest novel therapeutic approaches for controlling cell growth and restoring thyroid differentiated functions

  9. Spoken language outcomes after hemispherectomy: factoring in etiology.

    Science.gov (United States)

    Curtiss, S; de Bode, S; Mathern, G W

    2001-12-01

    We analyzed postsurgery linguistic outcomes of 43 hemispherectomy patients operated on at UCLA. We rated spoken language (Spoken Language Rank, SLR) on a scale from 0 (no language) to 6 (mature grammar) and examined the effects of side of resection/damage, age at surgery/seizure onset, seizure control postsurgery, and etiology on language development. Etiology was defined as developmental (cortical dysplasia and prenatal stroke) and acquired pathology (Rasmussen's encephalitis and postnatal stroke). We found that clinical variables were predictive of language outcomes only when they were considered within distinct etiology groups. Specifically, children with developmental etiologies had lower SLRs than those with acquired pathologies (p =.0006); age factors correlated positively with higher SLRs only for children with acquired etiologies (p =.0006); right-sided resections led to higher SLRs only for the acquired group (p =.0008); and postsurgery seizure control correlated positively with SLR only for those with developmental etiologies (p =.0047). We argue that the variables considered are not independent predictors of spoken language outcome posthemispherectomy but should be viewed instead as characteristics of etiology. Copyright 2001 Elsevier Science.

  10. Etiology and outcome of community-acquired lung abscess.

    Science.gov (United States)

    Takayanagi, Noboru; Kagiyama, Naho; Ishiguro, Takashi; Tokunaga, Daidou; Sugita, Yutaka

    2010-01-01

    Anaerobes are the first and Streptococcus species the second most common cause of community-acquired lung abscess (CALA) in the West. The etiologic pathogens of this disease have changed in Taiwan, with Klebsiella pneumoniae being reported as the most common cause of CALA. To determine the etiologies of community-acquired lung abscess. We retrospectively reviewed the records of 205 Japanese adult patients with CALA to evaluate etiologies and outcomes. We used not only traditional microbiological investigations but also percutaneous ultrasonography-guided transthoracic needle aspiration and protected specimen brushes. Of these 205 patients, 122 had documented bacteriological results, with 189 bacterial species isolated. Pure aerobic, mixed aerobic and anaerobic, and pure anaerobic bacteria were isolated in 90 (73.8%), 17 (13.9%), and 15 (12.3%) patients, respectively. The four most common etiologic pathogens were Streptococcus species (59.8%), anaerobes (26.2%), Gemella species (9.8%), and K. pneumoniae (8.2%). Streptococcus mitis was the most common among the Streptococcus species. Mean duration of antibiotic administration was 26 days. Six patients (2.9%, 3 with actinomycosis and 3 with nocardiosis) were treated with antibiotics for 76-189 days. Two patients with anaerobic lung abscess died. The first and second most common etiologic pathogens of CALA in our hospital were Streptococcus species and anaerobes, respectively. The etiologies in our study differ from those in Taiwan and are similar to those in the West with the exception that Streptococcus species were the most common etiologic pathogens in our study whereas anaerobes are the most frequent etiologic pathogens in Western countries. S. mitis and Gemella species are important etiologic pathogens as well. The identification of Actinomyces and Nocardia is important in order to define the adequate duration of antibiotic administration. Copyright 2010 S. Karger AG, Basel.

  11. Modern views on the epidemiology, etiology and pathogenesis of gynecomastia

    Directory of Open Access Journals (Sweden)

    Yu. N. Yashina

    2014-01-01

    Full Text Available The review deals with one of the pressing andrological issues – gynecomastia, its etiology and pathogenesis. Based on the current epidemiological and experimental data, most common etiological factors of gynecomastia were investigated. A multiple-valued role of various causes of gynecomastia in several age-groups was revealed. Literature data show that gynecomastia may be a manifestation of various diseases: endocrine, genetic, systematic. As well as that, gynecomastia may occur in patients with oncological diseases. However, gynecomastia can be an iatrogenic complication. Currently, we continue to make insights to the problem of gynecomastia in order to be able to classify its etiological factors and determine its basic pathogenesis pathways.

  12. Environment And Genetics in Lung cancer Etiology (EAGLE study: An integrative population-based case-control study of lung cancer

    Directory of Open Access Journals (Sweden)

    Colombi Antonio

    2008-06-01

    Full Text Available Abstract Background Lung cancer is the leading cause of cancer mortality worldwide. Tobacco smoking is its primary cause, and yet the precise molecular alterations induced by smoking in lung tissue that lead to lung cancer and impact survival have remained obscure. A new framework of research is needed to address the challenges offered by this complex disease. Methods/Design We designed a large population-based case-control study that combines a traditional molecular epidemiology design with a more integrative approach to investigate the dynamic process that begins with smoking initiation, proceeds through dependency/smoking persistence, continues with lung cancer development and ends with progression to disseminated disease or response to therapy and survival. The study allows the integration of data from multiple sources in the same subjects (risk factors, germline variation, genomic alterations in tumors, and clinical endpoints to tackle the disease etiology from different angles. Before beginning the study, we conducted a phone survey and pilot investigations to identify the best approach to ensure an acceptable participation in the study from cases and controls. Between 2002 and 2005, we enrolled 2101 incident primary lung cancer cases and 2120 population controls, with 86.6% and 72.4% participation rate, respectively, from a catchment area including 216 municipalities in the Lombardy region of Italy. Lung cancer cases were enrolled in 13 hospitals and population controls were randomly sampled from the area to match the cases by age, gender and residence. Detailed epidemiological information and biospecimens were collected from each participant, and clinical data and tissue specimens from the cases. Collection of follow-up data on treatment and survival is ongoing. Discussion EAGLE is a new population-based case-control study that explores the full spectrum of lung cancer etiology, from smoking addiction to lung cancer outcome, through

  13. Etiologic agents of central nervous system infections among febrile hospitalized patients in the country of Georgia.

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    Tamar Akhvlediani

    Full Text Available OBJECTIVES: There is a large spectrum of viral, bacterial, fungal, and prion pathogens that cause central nervous system (CNS infections. As such, identification of the etiological agent requires multiple laboratory tests and accurate diagnosis requires clinical and epidemiological information. This hospital-based study aimed to determine the main causes of acute meningitis and encephalitis and enhance laboratory capacity for CNS infection diagnosis. METHODS: Children and adults patients clinically diagnosed with meningitis or encephalitis were enrolled at four reference health centers. Cerebrospinal fluid (CSF was collected for bacterial culture, and in-house and multiplex RT-PCR testing was conducted for herpes simplex virus (HSV types 1 and 2, mumps virus, enterovirus, varicella zoster virus (VZV, Streptococcus pneumoniae, HiB and Neisseria meningitidis. RESULTS: Out of 140 enrolled patients, the mean age was 23.9 years, and 58% were children. Bacterial or viral etiologies were determined in 51% of patients. Five Streptococcus pneumoniae cultures were isolated from CSF. Based on in-house PCR analysis, 25 patients were positive for S. pneumoniae, 6 for N. meningitidis, and 1 for H. influenzae. Viral multiplex PCR identified infections with enterovirus (n = 26, VZV (n = 4, and HSV-1 (n = 2. No patient was positive for mumps or HSV-2. CONCLUSIONS: Study findings indicate that S. pneumoniae and enteroviruses are the main etiologies in this patient cohort. The utility of molecular diagnostics for pathogen identification combined with the knowledge provided by the investigation may improve health outcomes of CNS infection cases in Georgia.

  14. Possible etiologies for tropical spastic paraparesis and human T lymphotropic virus I-associated myelopathy

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    V. Zaninovic'

    2004-01-01

    Full Text Available The epidemiology of tropical spastic paraparesis/human T lymphotropic virus I (HTLV-I-associated myelopathy (TSP/HAM is frequently inconsistent and suggests environmental factors in the etiology of these syndromes. The neuropathology corresponds to a toxometabolic or autoimmune process and possibly not to a viral disease. Some logical hypotheses about the etiology and physiopathology of TSP and HAM are proposed. Glutamate-mediated excitotoxicity, central distal axonopathies, cassava, lathyrism and cycad toxicity may explain most cases of TSP. The damage caused to astrocytes and to the blood-brain barrier by HTLV-I plus xenobiotics may explain most cases of HAM. Analysis of the HTLV-I/xenobiotic ratio clarifies most of the paradoxical epidemiology of TSP and HAM. Modern neurotoxicology, neuroimmunology and molecular biology may explain the neuropathology of TSP and HAM. It is quite possible that there are other xenobiotics implicated in the etiology of some TSP/HAMs. The prevention of these syndromes appears to be possible today.

  15. The Enduring Challenge of Determining Pneumonia Etiology in Children: Considerations for Future Research Priorities.

    Science.gov (United States)

    Feikin, Daniel R; Hammitt, Laura L; Murdoch, David R; O'Brien, Katherine L; Scott, J Anthony G

    2017-06-15

    Pneumonia kills more children each year worldwide than any other disease. Nonetheless, accurately determining the causes of childhood pneumonia has remained elusive. Over the past century, the focus of pneumonia etiology research has shifted from studies of lung aspirates and postmortem specimens intent on identifying pneumococcal disease to studies of multiple specimen types distant from the lung that are tested for multiple pathogens. Some major challenges facing modern pneumonia etiology studies include the use of nonspecific and variable case definitions, poor access to pathologic lung tissue and to specimens from fatal cases, poor diagnostic accuracy of assays (especially when testing nonpulmonary specimens), and the interpretation of results when multiple pathogens are detected in a given individual. The future of childhood pneumonia etiology research will likely require integrating data from complementary approaches, including applications of advanced molecular diagnostics and vaccine probe studies, as well as a renewed emphasis on lung aspirates from radiologically confirmed pneumonia and postmortem examinations. © The Author 2017. Published by Oxford University Press for the Infectious Diseases Society of America.

  16. Burden, etiology and predictors of visual impairment among children ...

    African Journals Online (AJOL)

    . Knowledge of CVI is important in planning preventive measures. The aim of this study was determine the prevalence, etiology and the factors associated with childhood visual impairment among the children attending the eye clinic in Mulago ...

  17. Etiological Study of Mental Retardation in Budapest, Hungary.

    Science.gov (United States)

    Czeizel, A.; And Others

    1980-01-01

    The first complex etiological study of mental retardation in Budapest was carried out with 1,364 children ages 7 to 14 years. Results are compared with findings from previous surveys in the United States and the United Kingdom. (Author)

  18. Etiology and Antibiotic Susceptibility Pattern of Community-acquired

    African Journals Online (AJOL)

    Sheyin et. al

    difference in occurrence of infection between married and singles p=0.101 ... prevalence of 18.8%, with female participants having the highest occurrence of .... Performance standards ... age- dependent Etiology of community-aquired urinary.

  19. Etiología del colesteatoma ótico Etiology of otic cholesteatoma

    Directory of Open Access Journals (Sweden)

    Julianis Loraine Quintero Noa

    2011-12-01

    Full Text Available El colesteatoma es una estructura quística caracterizada por la presencia de epitelio escamoso productor de queratina, que sustituye o recubre la mucosa normal en la hendidura del oído medio y ápex petroso, y puede ser causa de hipoacusia irreversible, destrucción ósea y graves complicaciones por su crecimiento expansivo. Clásicamente se describen los colesteatomas en congénitos y adquiridos. La etiología de su formación es multifactorial y continúa siendo poco claro y controversial. Se reportan diferentes teorías que han tratado de explicar el colesteatoma congénito, la transición de un bolsillo de retracción hasta la aparición del colesteatoma adquirido primario, y otras en la génesis del colesteatoma adquirido secundario. Se describe la presencia de algunas citoquinas dentro del colesteatoma que inducen la hiperproliferación e invasión incoordinada de los queratinocitos de la piel del conducto auditivo externo y la pars fláccida, más agresiva en el colesteatoma adquirido pediátrico, y que desempeñan un papel fundamental en la proliferación y en la apoptosis del queratinocito. En cultivo in vitro de una muestra de tejido colesteatomatoso, se ha identificado recientemente que el TNF-a estimula la producción de la IL-8. Se considera de interés ofrecer esta revisión sobre la etiología del colesteatoma, que aún se mantiene en el campo de la investigación y continúa siendo un reto para los otocirujanos por su alta incidencia de recidivas y posibles complicaciones.Cholesteatoma is a cystic structure characterized by presence of squamous epithelium producing keratin substituting or recovering the normal mucosa in the groove of middle ear and petrous apex and may to be caused by irreversible hypoacusia, bone destruction and severe complications due to its expansive growth. Typically the cholesteatomas are described as congenital and acquired. The etiology of its formation is multifactor and still remains a subject not

  20. Car drivers with dementia: Different complications due to different etiologies?

    Science.gov (United States)

    Piersma, Dafne; de Waard, Dick; Davidse, Ragnhild; Tucha, Oliver; Brouwer, Wiebo

    2016-01-01

    Older drivers with dementia are an at-risk group for unsafe driving. However, dementia refers to various etiologies and the question is whether dementias of different etiology have similar effects on driving ability. The literature on the effects of dementia of various etiologies on driving ability is reviewed. Studies addressing dementia etiologies and driving were identified through PubMed, PsychINFO, and Google Scholar. Early symptoms and prognoses differ between dementias of different etiology. Therefore, different etiologies may represent different likelihoods with regard to fitness to drive. Moreover, dementia etiologies could indicate the type of driving problems that can be expected to occur. However, there is a great lack of data and knowledge about the effects of almost all etiologies of dementia on driving. One could hypothesize that patients with Alzheimer's disease may well suffer from strategic difficulties such as finding a route, whereas patients with frontotemporal dementia are more inclined to make tactical-level errors because of impaired hazard perception. Patients with other dementia etiologies involving motor symptoms may suffer from problems on the operational level. Still, the effects of various etiologies of dementias on driving have thus far not been studied thoroughly. For the detection of driving difficulties in patients with dementia, structured interviews with patients but also their family members appear crucial. Neuropsychological assessment could support the identification of cognitive impairments. The impact of such impairments on driving could also be investigated in a driving simulator. In a driving simulator, strengths and weaknesses in driving behavior can be observed. With this knowledge, patients can be advised appropriately about their fitness to drive and options for support in driving (e.g., compensation techniques, car adaptations). However, as long as no valid, reliable, and widely accepted test battery is available for

  1. [Infectious mononucleosis: etiology, immunological variants, methods of correction].

    Science.gov (United States)

    Gordeets, A V; Savina, O G; Beniova, S N; Chernikova, A A

    2011-01-01

    Clinical options of infectious mononucleosis course depending on infecting agent etiology are presented for Epstein-Barr virus (EBV), cytomegalovirus (CMV), mono and mixed forms of the disease. Examined cytokine profiles demonstrate analogous changes of serum cytokines in the acute stage of the disease irrespective of etiological factors. Data show that it is important and useful clinically and immunologically to include immunomodulators--in particular, cycloferon--info a complex therapy of different types of mononucleosis.

  2. Biomarkers of Acute Stroke Etiology (BASE) Study Methodology.

    Science.gov (United States)

    Jauch, Edward C; Barreto, Andrew D; Broderick, Joseph P; Char, Doug M; Cucchiara, Brett L; Devlin, Thomas G; Haddock, Alison J; Hicks, William J; Hiestand, Brian C; Jickling, Glen C; June, Jeff; Liebeskind, David S; Lowenkopf, Ted J; Miller, Joseph B; O'Neill, John; Schoonover, Tim L; Sharp, Frank R; Peacock, W Frank

    2017-05-05

    Acute ischemic stroke affects over 800,000 US adults annually, with hundreds of thousands more experiencing a transient ischemic attack. Emergent evaluation, prompt acute treatment, and identification of stroke or TIA (transient ischemic attack) etiology for specific secondary prevention are critical for decreasing further morbidity and mortality of cerebrovascular disease. The Biomarkers of Acute Stroke Etiology (BASE) study is a multicenter observational study to identify serum markers defining the etiology of acute ischemic stroke. Observational trial of patients presenting to the hospital within 24 h of stroke onset. Blood samples are collected at arrival, 24, and 48 h later, and RNA gene expression is utilized to identify stroke etiology marker candidates. The BASE study began January 2014. At the time of writing, there are 22 recruiting sites. Enrollment is ongoing, expected to hit 1000 patients by March 2017. The BASE study could potentially aid in focusing the initial diagnostic evaluation to determine stroke etiology, with more rapidly initiated targeted evaluations and secondary prevention strategies.Clinical Trial Registration Clinicaltrials.gov NCT02014896 https://clinicaltrials.gov/ct2/show/NCT02014896?term=biomarkers+of+acute+stroke+etiology&rank=1.

  3. The causes of epilepsy: changing concepts of etiology of epilepsy over the past 150 years.

    Science.gov (United States)

    Shorvon, Simon D

    2011-06-01

    This paper provides a survey of the changing concepts of the etiology of epilepsy from 1860 to 2010, focusing on the first two 50-year periods and outlining more briefly major developments in the past 50 years. Among the concepts reviewed in the first 100 years are: the division between predisposing and exciting causes, idiopathic and genuine epilepsy, organic epilepsy, the concept of "cause" being equivalent to "causal mechanism," Russell Reynolds etiological classification, the neurological taint and theories of degeneration, the self-perpetuating nature of seizures, reflex theories of etiology, autointoxication, heredity and eugenics, epilepsy due to brain disorders, the role of EEG and of hippocampal sclerosis, psychological theories of causation, and the multifactorial view of epilepsy etiology. In the past 50 years, the major advances in studying causation in epilepsy have been: clinical biochemistry, neuroimaging, molecular genetics, studies of mechanisms of epilepsy, better statistical methodologies and classification. A number of general observations can be made: the identification of "cause" is not as simple as it might at first appear; progress in the study of causation has been often erratic and travelled up many cul-de-sacs; theories of causation are heavily influenced by societal influences and fashion, and is also heavily dependent on applied methodologies; the recently explored possibility that the underlying inherited mechanisms of epilepsy are shared with other neuropsychiatric conditions is in effect a reinvention of the concept of the neurological trait, and this has ethical and social implications. Considering and classifying cause in terms of causal mechanism, as was suggested by Hughlings Jackson, is an ultimate goal. Wiley Periodicals, Inc. © 2011 International League Against Epilepsy.

  4. [Periodontal abscess: etiology, diagnosis and treatment].

    Science.gov (United States)

    Vályi, Péter; Gorzó, István

    2004-08-01

    The periodontal abscess is an acute destructive process in the periodontium resulting in localized collections of pus communicating with the oral cavity through the gingival sulcus or other periodontal sites and not arising from the tooth pulp. The prevalence of periodontal abscess is relatively high and it affects the prognosis of the tooth. Periodontal abscesses can develop on the base of persisting periodontitis but can also occur in the absence of periodontitis. The cause of the development of periodontal abscess originating from chronic periodontitis is the marginal closure of a periodontal pocket, or the pocket lumen might be too tight to drain the increased suppuration due to changes in the composition of subgingival microflora, alteration of bacterial virulence or host defenses. Diagnosis of a periodontal abscess is based on medical and dental history as well as oral examination (pocket depth, swelling, suppuration, mobility, sensibility of the tooth). The most prevalent group of bacteria: P. gingivalis, P. intermedia, B. forsythus, F. nucleatum and P. micros. Previous studies have suggested that the complete therapy of the periodontitis patients with acute periodontal abscess has to do in two stages: the first stage is the management of acute lesions, then the second stage is the appropriate comprehensive treatment of the original and/or residual lesions. The management of acute lesions includes establishing drainage via pocket lumen, subgingival scaling and root planing, curettage of the lining pocket epithelia and seriously inflamed connective tissue, compressing pocket wall to underlying tooth and periodontal support, and maintaining tissue contact. Some authors recommend the incision or to establish drainage and irrigation, or a flap surgery, or even extraction of hopeless teeth. We recommend the use of systemic antibiotics as a preventive measure of systemic disease or in case of systemic symptoms.

  5. Etiologies and risk factors for dementia

    Directory of Open Access Journals (Sweden)

    Sandeep Grover

    2016-01-01

    Full Text Available Dementia is understood as a clinical syndrome characterized by impairment in memory impairment along with cognitive deficits in other domains. Over the years, understanding about the causes of dementias has improved. Broadly, dementias can be classified as irreversible degenerative dementias and reversible dementias. Alzheimer′s disease is the prototype of degenerative dementias and is characterized by the accumulation of beta-amyloid protein (called as amyloid plaques outside the neurons and accumulation of tau protein (called tau tangles inside the neurons. Vascular dementias are characterized by cerebrovascular insults which lead to pathological brain changes that impair cognition. The pathological hallmark of Lewy body dementia is the presence of α-synuclein neuronal inclusions, also known as Lewy bodies, accompanied by neuronal loss. Frontotemporal dementias are characterized by abnormal deposits of the microtubule-associated protein tau, the trans-activation response TAR DNA-binding protein with molecular weight 43 kDa (TDP-43, and the fused in sarcoma protein. Reversible dementias are characterized by the primary illness and may not present with characteristic brain deposits as seen with many degenerative dementias.

  6. Comprehensive metabolic panel

    Science.gov (United States)

    Metabolic panel - comprehensive; Chem-20; SMA20; Sequential multi-channel analysis with computer-20; SMAC20; Metabolic panel 20 ... Chernecky CC, Berger BJ. Comprehensive metabolic panel (CMP) - blood. In: ... Tests and Diagnostic Procedures . 6th ed. St Louis, MO: ...

  7. 儿童注意缺陷多动障碍分子遗传学病因及药物干预研究进展%Advances in Molecular Genetics Etiology and Drug Intervention in Children whih Attention Deficit Hyperactivity Disorder

    Institute of Scientific and Technical Information of China (English)

    马志英; 李亚平

    2018-01-01

    注意缺陷多动障碍(ADHD)是儿童及青少年时期最常见的神经发育和行为障碍,根据美国精神病学会(APA)制定的《精神障碍诊断和统计手册》第5版(DSM-V),其核心表现为与其年龄不相符的注意力不集中、多动及行为冲动,严重影响了患儿正常学习和日常生活.该病呈慢性过程,近半数以上患儿上述症状可经过干预后消失,但仍有约30% ~ 50%的患儿症状会持续到成年,对患者及其家庭以及社会造成较大困扰,结合国内外最新研究进展对ADHD遗传学病因研究及药物干预情况进行综述,以期为促进ADHD的基础研究及治疗提供依据.%Attention deficit hyperactivity disorder (ADHD) is the most common neurodevelopmental and behavioral disorders among children and adolescence.According to the the fifth edition of the Diagnostic and Statistical Manual of Mental Disorders (DSM-V),published by American Psychiatric Association (APA),its core performance including lack of concentration,hyperactivity and behavioral impulses that not consistent with their age,and seriously affecting their normal learning and daily life.The disease is a chronic process,more than half of the children with the above symptoms can be disappeared by intervened,but there were still about 30% ~50% of the symptoms would continue to adulthood,causing greater distress to the patients,their famihes and the community.This paper reviewed the latest research progress on ADHD genetic etiology and drug intervention at domestic and abroad in order to promote the basic research and provide the basis of treatment of ADHD.

  8. The Making of Compassion Stress Injury: A Review of Historical and Etiological Models toward a De-Stigmatizing Neurobehavioral Conceptualization

    Directory of Open Access Journals (Sweden)

    Mark Russell

    2018-02-01

    Full Text Available The complex interactions between empathy and vulnerability amongst those in helping professions/roles have been explored by practitioners and researchers across multiple disciplines for decades. While these explorations have spurred interest and awareness in the unique risks and protective factors of helping professions/roles, they have also resulted in myriad competing, overlapping, and/or parallel definitions, conceptualizations, terminology, and etiological attributions of adverse impacts of secondary exposure to others’ suffering. In this conceptual review, we will follow the historical origins of this phenomenon, beginning with the early 1900s with the First World War and the works of early psychiatric clinicians and moving toward recent advances in understanding etiology and conceptualization. Finally, we will provide support for the use and additional research of a proposed unifying and comprehensive conceptualization term: compassion stress injury (CSI, based on a mind-body and de-stigmatizing framework.

  9. Common Molecular Subtypes Among Asian Hepatocellular Carcinoma and Cholangiocarcinoma

    DEFF Research Database (Denmark)

    Chaisaingmongkol, Jittiporn; Budhu, Anuradha; Dang, Hien

    2017-01-01

    Intrahepatic cholangiocarcinoma (ICC) and hepatocellular carcinoma (HCC) are clinically disparate primary liver cancers with etiological and biological heterogeneity. We identified common molecular subtypes linked to similar prognosis among 199 Thai ICC and HCC patients through systems integratio...

  10. Acute pancreatitis caused by Mycoplasma pneumoniae: an unusual etiology.

    Science.gov (United States)

    Valdés Lacasa, Teresa; Duarte Borges, María Alejandra; García Marín, Alicia; Gómez Cuervo, Covadonga

    2017-06-01

    It is well known that the most important etiologies of acute pancreatitis are gallstones and alcohol consumption. Once these causes have been ruled out, especially in young adults, it is important to consider less frequent etiologic factors such as drugs, trauma, malformations, autoimmunity or systemic diseases. Other rare and less well studied causes of this pathology are infections, among which Mycoplasma pneumoniae has been reported to cause acute pancreatitis as an unusual extrapulmonary manifestation. Here, we report the case of a 21-year-old patient who had acute idiopathic pancreatitis associated with an upper respiratory tract infection. After an in-depth study, all other causes of pancreatitis were ruled out and Mycoplasma was established as the clinical etiology.

  11. Etiologic stroke subtypes: updated definition and efficient workup strategies.

    Science.gov (United States)

    Mehndiratta, Prachi; Chapman Smith, Sherita; Worrall, Bradford B

    2015-01-01

    Stroke affects approximately 16.9 million individuals per year worldwide and is the second leading cause of death. Stroke represents a family of related, but distinct subtypes. Classifying stroke subtypes must take into account various aspects of a standardized stroke workup to allow optimization of treatment and prevention strategies. Secondary prevention and pharmacologic treatment is tailored based on stroke mechanism. Additionally prognostication and recurrent risk also depends on stroke etiology. Efficient workup of stroke relies on a thorough history, clinical examination, imaging studies, and putative mechanism of stroke that lead the treating physician to a particular etiological path. Here , we provide the reader with updated definitions of etiologic ischemic stroke types as well as efficient workup strategies.

  12. Etiology, clinical features and management of acute recurrent pancreatitis.

    Science.gov (United States)

    Deng, Yi Yun; Wang, Rui; Wu, Hao; Tang, Cheng Wei; Chen, Xin Zu

    2014-10-01

    To study the etiology and clinical features of acute recurrent pancreatitis (ARP) and to determine its optimal management and outcomes. ARP cases among acute pancreatitis patients who were admitted to the West China Hospital, Sichuan University from January 2008 to December 2012 were retrospectively collected. Their etiology, clinical features, treatments and outcomes were analyzed. Of all pancreatitis patients, 8.9% were classified as ARP. The proportions of mild and severe diseases were 85.7% and 14.3%, respectively. The common etiological factors were biliogenic (31.0%), alcohol (26.2%), hyperlipidemia (21.4%) and pancreaticobiliary malformation (15.4%). At first 46 cases were cryptogenic and among them 36 were subsequently confirmed by endoscopic retrograde cholangiopancreatography (ERCP). Among the hyperlipidemic ARP patients, 72.2% failed to routinely monitor and control serum lipids. ERCP was performed in 88 cases, and 48 also required an endoscopic sphincterotomy or calculus removal. Twenty-two patients underwent cholangiopancreatic duct stent placement, and pancreatic necrosectomy was performed on eight severe cases. The overall outcomes indicate that 8.3% of the cases progressed to chronic pancreatitis and 33.3% of the cases receiving etiological treatment were recurrence-free. There were no deaths in this study. The etiological factors of ARP are similar to those of acute pancreatitis at the first attack. The management of ARP should be fully considered based on etiological investigation. © 2014 Chinese Medical Association Shanghai Branch, Chinese Society of Gastroenterology, Renji Hospital Affiliated to Shanghai Jiaotong University School of Medicine and Wiley Publishing Asia Pty Ltd.

  13. Etiology, Diagnosis and Management of Oromandibular Dystonia: an Update for Stomatologists.

    Science.gov (United States)

    Raoofi, Saeed; Khorshidi, Hooman; Najafi, Maryam

    2017-06-01

    Oromandibular dystonia (OMD) is a rare focal neurological disorder that affects mouth, face, and jaws. This comprehensive literature review aimed to summarize the current evidence for etiology, diagnosis, and management of OMD and assess the possibility of dental origin of the disease and dental treatment plans for these patients. Different online databases namely PubMed, Google scholar, and Scopus were searched. The keywords "oromandibular dystonia", "orofaciomandibular dystonia", "orofacial-buccal dystonia", "lingual dystonia", "jaw dystonia", "cranial dystonia", and "adult-onset facial dystonia" were searched in the title and abstract of publications from 1970 to 2016. The inclusion criterion was the dental etiology and/or dental treatment. Out of 1260 articles, only 37 articles met the inclusion criteria. OMD can be caused or exacerbated through different dental treatments within which anyone is likely to be involved due to various reasons. Some novel methods employed to relieve this syndrome have led to certain cure or improvement of symptoms in several cases. OMD patients may refer to dentists with involuntary jaw movements and intraoral presentations. Thus, the dentists should be aware of the symptoms and signs and refer the suspicious cases. Dentists should also be familiar with special considerations when managing OMD patients.

  14. Quemaduras y etiología medicolegal Burns and medicolegal etiology

    Directory of Open Access Journals (Sweden)

    Héctor Barreiro Ramos

    2006-12-01

    Full Text Available Las muertes por quemaduras plantean a la instrucción policial y al médico legista diversos problemas, entre los que se encuentran, determinar su causa medicolegal, es decir, si se trata de un homicidio, suicidio o accidente, pero para tan trascendental afirmación solo contamos con las versiones de testigo del hecho, sin contar con los elementos científicos que nos orienten, como pudiera ser algún indicador somático o de otro tipo. En tal caso nos preguntamos si existen variables que nos orienten en la causa medicolegal de la muerte. El propósito, por tanto, del trabajo consiste en evaluar un grupo de variables como posibles indicadores de la causa medicolegal de las muertes por llamas. El universo de trabajo fueron 135 fallecidos atendidos en el Centro Provincial de Medicina Legal de La Habana en el decenio 1994-2003, y la muestra la formaron 75 de ellos. Los resultados señalan que el 62 % de los fallecidos fueron suicidios, el 32 % accidentes y el 5 % homicidios, con un predominio del sexo femenino. El suicidio tiene una media de 70 años, para el accidente es 45, y para el homicidio 58. El lugar del hecho más frecuente fue la casa. El agente causal más encontrado fue en primer lugar el alcohol y en segundo el queroseno; en el suicidio el alcohol fue el más empleado, mientras que en el accidente, por el contrario, el más causal fue el queroseno. En el homicidio solo se empleó el alcohol. Se concluye que no existe un solo indicador que nos pueda confirmar la etiología medicolegal de estas muertes, pero el conjunto de ellos sí nos puede señalar con bastante certeza la causa probable.Deaths caused by burns pose diverse problems to the police instruction and to the legist physician. One of these problems is to determine its medicolegal cause, that is, wether it is a homicide, suicide or accident, but for such a trascendental affirmation we only have the versions of the witness, without the scientific elements that may orientate us

  15. THE ENIGMA OF AUTISM: CONTRIBUTIONS TO THE ETIOLOGY OF THE DISORDER

    Directory of Open Access Journals (Sweden)

    Gisella Mouta Fadda

    2016-11-01

    Full Text Available The lack of a definitive explanation for the causes of autism in children is an enigma that creates significant suffering among parents and difficulties for health professionals. This study is a critical review of the possible causes of autism, currently known as Autism Spectrum Disorder (ASD, spanning the period from the first description of the syndrome in 1943 until 2015. The objective of this article is to outline the current scenario of studies about this type of disorder in order to emphasize the points of convergence and the differences between the positions taken by the researchers who have dedicated themselves to this topic. The analysis suggests four main paradigms that attempt to encompass the etiology of autism: 1 the Biological-Genetic Paradigm; 2 the Relational Paradigm; 3 the Environmental Paradigm; and 4 the Neurodiversity Paradigm. By questioning these paradigms, we hope to deepen comprehension of this disorder in the current scientific context.

  16. Seeking Professional Help: Etiology Beliefs about Mental Illness across Cultures

    Science.gov (United States)

    Chen, Sylvia Xiaohua; Mak, Winnie W. S.

    2008-01-01

    In the present study, the authors examined the contributions of cultural beliefs about the etiology of mental illness to the seeking of help from mental health professionals among college students in 4 cultural groups, European Americans, Chinese Americans, Hong Kong Chinese, and Mainland Chinese. Group differences were found in help-seeking…

  17. Agricultural Exposures, Multiple Myeloma Etiology: Profile of Jonathan Hofmann

    Science.gov (United States)

    Tenure-track investigator Jonathan Hofmann, Ph.D., M.P.H., has established a research program in the Occupational and Environmental Epidemiology Branch focused on the role of agricultural exposures in the etiology of multiple myeloma and other cancers, and on understanding the biological mechanisms that influence the development and progression of multiple myeloma.

  18. Role of psychosocial factors in the etiology of bruxism

    NARCIS (Netherlands)

    Manfredini, D.; Lobbezoo, F.

    2009-01-01

    AIMS: To summarize literature data about the role of psychosocial factors in the etiology of bruxism. METHODS: A systematic search in the National Library of Medicine's PubMed Database was performed to identify all peer-reviewed papers in the English literature dealing with the bruxism-psychosocial

  19. Infectious uveitis. New developments in etiology and pathogenesis

    NARCIS (Netherlands)

    de Visser, L.

    2009-01-01

    Uveitis is an inflammation of the inner-eye and is initiated by various infectious and noninfectious causes. In a large portion of patients the etiology is unknown and might be associated with until now undiagnosed infections.The identification of infectious uveitis is of crucial importance since

  20. The spontaneous spinal epidural hematoma : a study of the etiology

    NARCIS (Netherlands)

    Groen, R J; Ponssen, H

    From the literature 199 cases of spontaneous spinal epidural hematoma (SSEH) are analyzed. With these data and the vascular anatomical characteristics of the spinal epidural space, the theories on the etiology of the SSEH are discussed. There seems to be no relationship between the SSEH and arterial

  1. Editorial comment on “Etiology of male urethral strictures ...

    African Journals Online (AJOL)

    My colleagues and I are strongly convinced that urethral stricture disease presents different etiologies and pathological characteris- tics in developed compared to developing countries [1]. Recently, we reported the differences in posterior urethral stricture after pelvic fracture urethral distraction defects in developing (India) ...

  2. Selective Mutism: A Review of Etiology, Comorbidities, and Treatment

    OpenAIRE

    Wong, Priscilla

    2010-01-01

    Selective mutism is a rare and multidimensional childhood disorder that typically affects children entering school age. It is characterized by the persistent failure to speak in select social settings despite possessing the ability to speak and speak comfortably in more familiar settings. Many theories attempt to explain the etiology of selective mutism.

  3. Glutathione dysregulation and the etiology and progression of human diseases.

    NARCIS (Netherlands)

    Ballatori, N.; Krance, S.M.; Notenboom, S.; Shi, S.; Tieu, K.; Hammond, C.L.

    2009-01-01

    Glutathione (GSH) plays an important role in a multitude of cellular processes, including cell differentiation, proliferation, and apoptosis, and as a result, disturbances in GSH homeostasis are implicated in the etiology and/or progression of a number of human diseases, including cancer, diseases

  4. Duodenal Obstruction: Etiology, Morbidity and Mortality among Edo ...

    African Journals Online (AJOL)

    Duodenal obstruction in children is associated with poor outcome which has improved in developed but remained poor in developing countries. The objective of this study was to ascertain the etiology, morbidity, mortality and factors that contributed to poor outcome in a developing country. Retrospective analysis of pediatric ...

  5. Ketosis in dairy cows: etiologic factors, monitoring, treatment

    NARCIS (Netherlands)

    van der Drift, S.G.A.

    2013-01-01

    Ketosis is a metabolic disorder that mainly occurs during the negative energy balance in early-lactation dairy cows. It is characterized by elevated concentrations of ketone bodies in blood (hyperketonemia), urine, and milk. The thesis of Saskia van der Drift covers investigations on etiologic

  6. Heart failure etiology impacts survival of patients with heart failure

    DEFF Research Database (Denmark)

    Pecini, Redi; Møller, Daniel Vega; Torp-Pedersen, Christian

    2010-01-01

    .4%), valvular disease (VHD, 9.5%), dilated cardiomyopathy (DCM, 7.9%), other (11.5%), and unknown etiology (14.8%). Patients with normal left ventricular ejection fraction (LVEF) were also included. Follow-up was up to 5years. RESULTS: In multivariable analysis, with HTN as the reference, VHD showed the highest...

  7. A Study of the Etiology of Referred Otalgia

    Directory of Open Access Journals (Sweden)

    Mohammad Hosein Taziki

    2011-01-01

    Conclusion:  In view of the fact that a significant proportion of the patients who complained of otalgia had no pathologies in the ear, thorough physical examination in adjacent structures especially teeth should be performed and malignancies should be considered as a possible etiology of otalgia.

  8. The etiology of social aggression: a nuclear twin family study.

    Science.gov (United States)

    Slawinski, Brooke L; Klump, Kelly L; Burt, S Alexandra

    2018-04-02

    Social aggression is a form of antisocial behavior in which social relationships and social status are used to damage reputations and inflict emotional harm on others. Despite extensive research examining the prevalence and consequences of social aggression, only a few studies have examined its genetic-environmental etiology, with markedly inconsistent results. We estimated the etiology of social aggression using the nuclear twin family (NTF) model. Maternal-report, paternal-report, and teacher-report data were collected for twin social aggression (N = 1030 pairs). We also examined the data using the classical twin (CT) model to evaluate whether its strict assumptions may have biased previous heritability estimates. The best-fitting NTF model for all informants was the ASFE model, indicating that additive genetic, sibling environmental, familial environmental, and non-shared environmental influences significantly contribute to the etiology of social aggression in middle childhood. However, the best-fitting CT model varied across informants, ranging from AE and ACE to CE. Specific heritability estimates for both NTF and CT models also varied across informants such that teacher reports indicated greater genetic influences and father reports indicated greater shared environmental influences. Although the specific NTF parameter estimates varied across informants, social aggression generally emerged as largely additive genetic (A = 0.15-0.77) and sibling environmental (S = 0.42-0.72) in origin. Such findings not only highlight an important role for individual genetic risk in the etiology of social aggression, but also raise important questions regarding the role of the environment.

  9. Twin-twin transfusion syndrome: etiology, severity and rational management

    NARCIS (Netherlands)

    van Gemert, M. J.; Umur, A.; Tijssen, J. G.; Ross, M. G.

    2001-01-01

    The twin-twin transfusion syndrome is a serious complication of monochorionic twin pregnancies. Partly as a result of an inadequate understanding of the pathophysiology of the syndrome, there is a lack of consensus in clinical management. We sought to review the available information on the etiology

  10. Etiology and clinical management of adult meningitis in Indonesia

    NARCIS (Netherlands)

    Rizal Ganiem, A.

    2013-01-01

    This thesis consists of 8 chapters and addresses the etiology, diagnosis, outcome and treatment of adult meningitis in Indonesia. The studies were conducted in Hasan Sadikin Hospital, Bandung, the referral hospital for West Java province, Indonesia between December 2006 and August 2012. In a cohort

  11. Anemia in chronic heart failure : etiology and treatment options

    NARCIS (Netherlands)

    Westenbrink, B. Daan; de Boer, Rudolf A.; Voors, Adriaan A.; van Gilst, Wiek H.; van Veldhuisen, Dirk J.

    Purpose of review Anemia is common in patients with chronic heart failure, and is related to increased morbidity and mortality. The etiology of anemia in heart failure is complex and still not fully resolved. The review will describe current advances in the understanding of the pathophysiology of

  12. Etiology and electroclinical pattern of late onset epilepsy in Ibadan ...

    African Journals Online (AJOL)

    Late onset epilepsy (LOE) is a common neurological problem throughout the world. It is an area that has not been fully explored in the developing countries like Nigeria. The aim of the present study is to determine the pattern of presentation of late onset epilepsy with the view to identifying the etiologic as well as describe ...

  13. Translational Evidence for a Role of Endocannabinoids in the Etiology and Treatment of Posttraumatic Stress Disorder

    Science.gov (United States)

    Neumeister, Alexander; Seidel, Jordan; Ragen, Benjamin J.; Pietrzak, Robert H.

    2014-01-01

    Introduction Posttraumatic stress disorder (PTSD) is a prevalent, chronic, and disabling anxiety disorder that may develop following exposure to a traumatic event. Despite the public health significance of PTSD, relatively little is known about the etiology or pathophysiology of this disorder, and pharmacotherapy development to date has been largely opportunistic instead of mechanism-based. Recently, an accumulating body of evidence has implicated the endocannabinoid system in the etiology of PTSD, and targets within this system are believed to be suitable for treatment development. Methods Herein, we describe evidence from translational studies arguing for the relevance of the endocannabinoid system in the etiology of PTSD. We also show mechanisms relevant for treatment development. Results There is convincing evidence from multiple studies for reduced endocannabinoid availability in PTSD. Brain imaging studies show molecular adaptations with elevated cannabinoid type 1 (CB1) receptor availability in PTSD which is linked to abnormal threat processing and anxious arousal symptoms. Conclusion Of particular relevance is evidence showing reduced levels of the endocannabinoid anandamide and compensatory increase of CB1 receptor availability in PTSD, and an association between increased CB1 receptor availability in the amygdala and abnormal threat processing, as well as increased severity of hyperarousal, but not dysphoric symptomatology, in trauma survivors. Given that hyperarousal symptoms are the key drivers of more disabling aspects of PTSD such as emotional numbing or suicidality, novel, mechanism-based pharmacotherapies that target this particular symptom cluster in patients with PTSD may have utility in mitigating the chronicity and morbidity of the disorder. PMID:25456347

  14. Mutations and modeling of the chromatin remodeler CHD8 define an emerging autism etiology

    Directory of Open Access Journals (Sweden)

    Rebecca A Barnard

    2015-12-01

    Full Text Available Autism Spectrum Disorder (ASD is a common neurodevelopmental disorder with a strong but complex genetic component. Recent family based exome-sequencing strategies have identified recurrent de novo mutations at specific genes, providing strong evidence for ASD risk, but also highlighting the extreme genetic heterogeneity of the disorder. However, disruptions in these genes converge on key molecular pathways early in development. In particular, functional enrichment analyses have found that there is a bias towards genes involved in transcriptional regulation, such as chromatin regulators. Here we review recent genetic, animal model, co-expression network, and functional genomics studies relating to the high confidence ASD risk gene, CHD8. CHD8 a chromatin remodeling factor, may serve as a master regulator of a common ASD etiology. Individuals with a CHD8 mutation show an ASD subtype that includes similar physical characteristics, such as macrocephaly and prolonged GI problems including recurrent constipation. Similarly, animal models of CHD8 disruption exhibit enlarged head circumference and reduced gut motility phenotypes. Systems biology approaches suggest CHD8 and other candidate ASD risk genes are enriched during mid-fetal development, which may represent a critical time window in ASD etiology. Transcription profiles from cell and primary tissue models of early development indicate that CHD8 may also positively regulate other candidate ASD risk genes through both direct and indirect means. However continued study is needed to elucidate the mechanism of regulation as well as identify which CHD8 targets are most relevant to ASD risk. Overall, these initial studies suggest the potential for common ASD etiologies and the development of personalized treatments in the future.

  15. Etiologic Agents of Central Nervous System Infections among Febrile Hospitalized Patients in the Country of Georgia

    Science.gov (United States)

    Akhvlediani, Tamar; Bautista, Christian T.; Shakarishvili, Roman; Tsertsvadze, Tengiz; Imnadze, Paata; Tatishvili, Nana; Davitashvili, Tamar; Samkharadze, Tamar; Chlikadze, Rusudan; Dvali, Natia; Dzigua, Lela; Karchava, Mariam; Gatserelia, Lana; Macharashvili, Nino; Kvirkvelia, Nana; Habashy, Engy Emil; Farrell, Margaret; Rowlinson, Emily; Sejvar, James; Hepburn, Matthew; Pimentel, Guillermo; Dueger, Erica; House, Brent; Rivard, Robert

    2014-01-01

    Objectives There is a large spectrum of viral, bacterial, fungal, and prion pathogens that cause central nervous system (CNS) infections. As such, identification of the etiological agent requires multiple laboratory tests and accurate diagnosis requires clinical and epidemiological information. This hospital-based study aimed to determine the main causes of acute meningitis and encephalitis and enhance laboratory capacity for CNS infection diagnosis. Methods Children and adults patients clinically diagnosed with meningitis or encephalitis were enrolled at four reference health centers. Cerebrospinal fluid (CSF) was collected for bacterial culture, and in-house and multiplex RT-PCR testing was conducted for herpes simplex virus (HSV) types 1 and 2, mumps virus, enterovirus, varicella zoster virus (VZV), Streptococcus pneumoniae, HiB and Neisseria meningitidis. Results Out of 140 enrolled patients, the mean age was 23.9 years, and 58% were children. Bacterial or viral etiologies were determined in 51% of patients. Five Streptococcus pneumoniae cultures were isolated from CSF. Based on in-house PCR analysis, 25 patients were positive for S. pneumoniae, 6 for N. meningitidis, and 1 for H. influenzae. Viral multiplex PCR identified infections with enterovirus (n = 26), VZV (n = 4), and HSV-1 (n = 2). No patient was positive for mumps or HSV-2. Conclusions Study findings indicate that S. pneumoniae and enteroviruses are the main etiologies in this patient cohort. The utility of molecular diagnostics for pathogen identification combined with the knowledge provided by the investigation may improve health outcomes of CNS infection cases in Georgia. PMID:25369023

  16. The impact of incontinence etiology on artificial urinary sphincter outcomes

    Directory of Open Access Journals (Sweden)

    Adam R. Miller

    2017-07-01

    Full Text Available Purpose: To evaluate the impact of incontinence etiology on artificial urinary sphincter (AUS device outcomes. Materials and Methods: We identified 925 patients who underwent primary AUS placement from 1983 to 2011. The etiology of incontinence was categorized as radical prostatectomy alone, radical prostatectomy with radiation, benign prostate resection, and those with cryotherapy as a salvage prostate cancer treatment. Hazard regression and competing risk analyses were used to determine the association of the etiology of incontinence with device outcomes. Results: The distribution of the 4 etiologies of incontinence included: 598 patients (64.6% treated with prostatectomy alone, 206 (22.2% with prostatectomy and pelvic radiation therapy, 104 (11.2% with benign prostate resection, and 17 (1.8% with prior cryotherapy. With a median follow-up of 4.9 years (interquartile range, 1.2–8.8 years, there was significant difference in the cumulative incidence of device infection/urethral erosion events between the four etiologies (p=0.003. On multivariable analysis, prior cryotherapy (reference prostatectomy alone; hazard ratio [HR], 3.44; p=0.01, older age (HR, 1.07; p=0.0009 and history of a transient ischemic attack (HR, 2.57; p=0.04 were associated with an increased risk of device infection or erosion. Notably, pelvic radiation therapy with prostatectomy was not associated with an increased risk of device infection or erosion (reference prostatectomy alone, p=0.30. Conclusions: Compared to prostatectomy alone, prior treatment with salvage cryotherapy for recurrent prostate cancer was associated with an increased risk of AUS infection/erosion, whereas radiation (in addition to prostatectomy was not.

  17. Status epilepticus: Role for etiology in determining response to benzodiazepines.

    Science.gov (United States)

    Joshi, Suchitra; Rajasekaran, Karthik; Hawk, Kyle M; Chester, Stephen J; Goodkin, Howard P

    2018-04-01

    Clinical factors contributing to benzodiazepine failure in treating status epilepticus (SE) include suboptimal dosing and seizure duration. As many benzodiazepine-refractory episodes of SE arise from acute etiologies, we sought to determine whether etiology impacts SE treatment. The potency of diazepam to terminate SE induced by lithium-pilocarpine (LiPilo-SE) or kainic acid (KA-SE) in 3-week-old rats was studied by video-electroencephalography. Synaptic γ-aminobutyric acid type A receptor (GABAR)-mediated currents were recorded from dentate granule cells using voltage-clamp electrophysiology. Surface expression of γ2 subunit-containing GABARs and Kv4.2 potassium channels in hippocampal slices was determined using a biotinylation assay. Expression of phosphorylated forms of β2/3 and γ2 subunits was determined using phosphospecific antibodies and Western blotting. Diazepam failed to terminate late SE in LiPilo-SE animals but was successful in terminating KA-SE of 1- and 3-hour duration. One hour after SE onset, GABAR-mediated synaptic inhibition and γ2 subunit-containing GABAR surface expression were reduced in LiPilo-SE animals. These were unchanged in KA-SE animals at 1 and 3 hours. Phosphorylation of γ2 subunit residue S327 was unchanged in both models, although GABAR β3 subunit S408/409 residues were dephosphorylated in the LiPilo-SE animals. Kv4.2 potassium channel surface expression was increased in LiPilo-SE animals but reduced in KA-SE animals. SE-model-dependent differences support a novel hypothesis that the development of benzodiazepine pharmacoresistance may be etiologically predetermined. Further studies are required to investigate the mechanisms that underlie such etiological differences during SE and whether etiology-dependent protocols for the treatment of SE need to be developed. Ann Neurol 2018;83:830-841. © 2018 American Neurological Association.

  18. Case in Language Comprehension

    NARCIS (Netherlands)

    Bader, Markus; Lamers, Monique

    2012-01-01

    Research on human language comprehension has been heavily influenced by properties of the English language. Since case plays only a minor role in English, its role for language comprehension has only recently become a topic for extensive research on psycholinguistics. In the psycholinguistic

  19. Spectrum of Physics Comprehension

    Science.gov (United States)

    Blasiak, W.; Godlewska, M.; Rosiek, R.; Wcislo, D.

    2012-01-01

    The paper presents the results of research on the relationship between self-assessed comprehension of physics lectures and final grades of junior high school students (aged 13-15), high school students (aged 16-18) and physics students at the Pedagogical University of Cracow, Poland (aged 21). Students' declared level of comprehension was measured…

  20. Different Types of Fantastic Etiology in Hafez Poetry

    Directory of Open Access Journals (Sweden)

    Ghodrat Ghasemipour

    2016-05-01

    Full Text Available  Abstract Fantastic etiology in Persian poetry has such a high status that we can say that this figure of speech is one of the most interested figures between classic Persian poets. This figure is frequently used by Hafez in his poetries so that after equivocalness it is the second rhetorical figure in his poetries. The definition of fantastic etiology is that causality in poetry is based on similarity and it must be aesthetical and satisfactory, not scientific and discursive. By Fantastic etiology poets create imaginative connection between two phenomena; in the other hand, this figure rationally proves the possibility of the impossible and thus presents the lies disguised as truth. The poet’s goal in fantastic etiology is not to invent the cause, but rather to make the conventional descriptions sound unusual. For example, in the line “Because the cloud weeps without reason, tulips and roses laugh at it,” it is the groundless tears of the cloud which cause mockery on the part of the tulips and roses. In this example, two conventional expressions- “the cloud’s tears” (describing the spring rain and “the flowers’ laughter” (describing their blossoming - are connected by a causal relationship which does not exist in reality.   In classical Persian poetry Hafez, along with equivocalness, utilized of fantastic etiology in the best form . His uses of this literary device, like another figures of speech in his poetry, is very natural and unassuming. Understanding, interpreting and aesthetical purpose of some Hafez poetries is based on fantastic etiology.   Companionship, concomitancy and admixture of poetical figures are factors that must be discussed in stylistic analysis of poetry. Literary figures occasionally uses alone in poetry and some when uses together. Though fantastic etiology in rhetoric or figure of thought is an independent figure, but this devise occasionally uses with another

  1. Comprehensive Control of Human Papillomavirus Infections and Related Diseases

    Science.gov (United States)

    Bosch, F. Xavier; Broker, Thomas R.; Forman, David; Moscicki, Anna-Barbara; Gillison, Maura L.; Doorbar, John; Stern, Peter L.; Stanley, Margaret; Arbyn, Marc; Poljak, Mario; Cuzick, Jack; Castle, Philip E.; Schiller, John T.; Markowitz, Lauri E.; Fisher, William A.; Canfell, Karen; Denny, Lynette A.; Franco, Eduardo L.; Steben, Marc; Kane, Mark A.; Schiffman, Mark; Meijer, Chris J.L.M.; Sankaranarayanan, Rengaswamy; Castellsagué, Xavier; Kim, Jane J.; Brotons, Maria; Alemany, Laia; Albero, Ginesa; Diaz, Mireia; de Sanjosé, Silvia

    2014-01-01

    Infection with human papillomavirus (HPV) is recognized as one of the major causes of infection-related cancer worldwide, as well as the causal factor in other diseases. Strong evidence for a causal etiology with HPV has been stated by the International Agency for Research on Cancer for cancers of the cervix uteri, penis, vulva, vagina, anus and oropharynx (including base of the tongue and tonsils). Of the estimated 12.7 million new cancers occurring in 2008 worldwide, 4.8% were attributable to HPV infection, with substantially higher incidence and mortality rates seen in developing versus developed countries. In recent years, we have gained tremendous knowledge about HPVs and their interactions with host cells, tissues and the immune system; have validated and implemented strategies for safe and efficacious prophylactic vaccination against HPV infections; have developed increasingly sensitive and specific molecular diagnostic tools for HPV detection for use in cervical cancer screening; and have substantially increased global awareness of HPV and its many associated diseases in women, men, and children. While these achievements exemplify the success of biomedical research in generating important public health interventions, they also generate new and daunting challenges: costs of HPV prevention and medical care, the implementation of what is technically possible, socio-political resistance to prevention opportunities, and the very wide ranges of national economic capabilities and health care systems. Gains and challenges faced in the quest for comprehensive control of HPV infection and HPV-related cancers and other disease are summarized in this review. The information presented may be viewed in terms of a reframed paradigm of prevention of cervical cancer and other HPV-related diseases that will include strategic combinations of at least four major components: 1) routine introduction of HPV vaccines to women in all countries, 2) extension and simplification of

  2. Quotient-Comprehension Chains

    Directory of Open Access Journals (Sweden)

    Kenta Cho

    2015-11-01

    Full Text Available Quotients and comprehension are fundamental mathematical constructions that can be described via adjunctions in categorical logic. This paper reveals that quotients and comprehension are related to measurement, not only in quantum logic, but also in probabilistic and classical logic. This relation is presented by a long series of examples, some of them easy, and some also highly non-trivial (esp. for von Neumann algebras. We have not yet identified a unifying theory. Nevertheless, the paper contributes towards such a theory by introducing the new quotient-and-comprehension perspective on measurement instruments, and by describing the examples on which such a theory should be built.

  3. Comprehensive cardiac rehabilitation

    DEFF Research Database (Denmark)

    Kruse, Marie; Hochstrasser, Stefan; Zwisler, Ann-Dorthe O

    2006-01-01

    OBJECTIVES: The costs of comprehensive cardiac rehabilitation are established and compared to the corresponding costs of usual care. The effect on health-related quality of life is analyzed. METHODS: An unprecedented and very detailed cost assessment was carried out, as no guidelines existed...... and may be as high as euro 1.877. CONCLUSIONS: Comprehensive cardiac rehabilitation is more costly than usual care, and the higher costs are not outweighed by a quality of life gain. Comprehensive cardiac rehabilitation is, therefore, not cost-effective....

  4. Test Anxiety and a High-Stakes Standardized Reading Comprehension Test: A Behavioral Genetics Perspective

    Science.gov (United States)

    Wood, Sarah G.; Hart, Sara A.; Little, Callie W.; Phillips, Beth M.

    2016-01-01

    Past research suggests that reading comprehension test performance does not rely solely on targeted cognitive processes such as word reading, but also on other nontarget aspects such as test anxiety. Using a genetically sensitive design, we sought to understand the genetic and environmental etiology of the association between test anxiety and…

  5. Oral malodor: A review of etiology and pathogenesis

    Directory of Open Access Journals (Sweden)

    Ajay Benerji Kotti

    2015-01-01

    Full Text Available Oral malodor or halitosis is a condition characterized by unpleasant odors emanating from the oral cavity. The aim of the present review is to classify and explain the etiology and pathogenesis of oral malodor. Volatile sulfur compounds (VSCs that result from bacterial breakdown of protein are considered to be the main culprits for this foul odor. The etiology of oral malodor can be attributed to both systemic and oral conditions. However, nearly 85% of the cases originate from mouth due to tongue coating (especially posterior third of the dorsal surface, periodontal disease, poor oral hygiene, infections, ulcerations, food debris, dry mouth and faulty restorations. Bad breath can be caused by systemic disorders such as upper and lower respiratory tract infections; hepatic, pancreatic, and nephritic insufficiencies; trimethylaminuria and some medications. In addition, there are very few instances where patients suffer from pseudohalitosis or halitophobia.

  6. Early Pregnancy Losses: Review of Nomenclature, Histopathology, and Possible Etiologies.

    Science.gov (United States)

    Pinar, M Halit; Gibbins, Karen; He, Mai; Kostadinov, Stefan; Silver, Robert

    2018-05-08

    Miscarriage is a frequent complication of human pregnancy: ∼50% to 70% of spontaneous conceptions are lost prior to the second trimester. Etiology of miscarriage includes genetic abnormalities, infections, immunological and implantation disorders, uterine and endocrine abnormalities, and lifestyle factors. Given such variability, knowledge regarding causes, pathophysiological mechanisms, and morphologies of primary early pregnancy loss has significant gaps; often, pregnancy losses remain unexplained. Pathologic evaluation of miscarriage tissue is an untapped source of knowledge. Although miscarriage specimens comprise a significant part of pathologists' workload, information reported from these specimens is typically of minimal clinical utility for delineating etiology or predicting recurrence risk. Standardized terminology is available, though not universally used. We reintroduce the terminology and review new information about early pregnancy losses and their morphologies. Current clinical terminology is inconsistent, hampering research progress. This review is a resource for diagnostic pathologists studying this complex problem.

  7. Chronic kidney disease of unknown etiology in agricultural communities.

    Science.gov (United States)

    Almaguer, Miguel; Herrera, Raúl; Orantes, Carlos M

    2014-04-01

    In recent years, Central America, Egypt, India and Sri Lanka have reported a high prevalence of chronic kidney disease of unknown etiology in agricultural communities, predominantly among male farmworkers. This essay examines the disease's case definitions, epidemiology (disease burden, demographics, associated risk factors) and causal hypotheses, by reviewing published findings from El Salvador, Nicaragua, Costa Rica, Sri Lanka, Egypt and India. The range of confirmed chronic kidney disease prevalence was 17.9%-21.1%. Prevalence of reduced glomerular filtration (homemade alcohol use and family history of chronic kidney disease. There is no strong evidence for a single cause, and multiple environmental, occupational and social factors are probably involved. Further etiological research is needed, plus interventions to reduce preventable risk factors.

  8. Controversies about a common etiology for eating and mood disorders

    Directory of Open Access Journals (Sweden)

    Clara eRossetti

    2014-10-01

    Full Text Available Obesity and depression represent a growing health concern worldwide. For many years, basic science and medicine have considered obesity as a metabolic illness, while depression was classified a psychiatric disorder. Despite accumulating evidence suggesting that obesity and depression may share commonalities though, the causal link between eating and mood disorders remains to be fully understood. This etiology is highly complex, consisting of multiple environmental and genetic risk factors that interact with each other. In this review, we sought to summarize the preclinical and clinical evidence supporting a common etiology for eating and mood disorders, with a particular emphasis on signaling pathways involved in the maintenance of energy balance and mood stability, among which orexigenic and anorexigenic neuropeptides, metabolic factors, stress responsive hormones, cytokines and neurotrophic factors.

  9. SERUM LIPID PROFILE AS AN ETIOLOGY OF VERTIGO : A STUDY

    OpenAIRE

    Sami; Satveer Singh

    2015-01-01

    A prospective study of lipid profile was done in 60 patients of vertigo at E.L.M.C. Lucknow from 2011 to 2014. All components of serum cholesterol were analyzed. Serum cholesterol and hyperlipidemia as an etiology of the atherosclerosis of all blood vessel s also have a role in vestibulo - cochlear vessels. It was found that there were 34 females and 26 males and maximum number of patients (63.33%) in the age group of 31 - 50y...

  10. Infertility in Mazandaran province - north of Iran: an etiological study

    OpenAIRE

    Nadali Musanejad; Gholamali Jursarayee; Ayyub Barzegarnejad; Sepideh Peivandi; Narges Moslemizadeh; Amir Esmailnejad Moghaddam; Abbasali Karimpour Malekshah

    2011-01-01

    Background: The prevalence and etiology of infertility are not similar in different parts of the world. There are only few reports of this topic in Iran. Objective: This study was conducted to determine the clinical patterns and major causes of infertility in Mazandaran province in north of Iran. Materials and Methods: The medical records of 3734 consecutive couples attending two infertility clinics in Mazandaran province, from 2003 to 2008, were reviewed. The couples had not had a viable bir...

  11. Etiology and Outcome of Chronic Kidney Disease in Iranian Children

    Directory of Open Access Journals (Sweden)

    Neamatollah Ataei

    2016-07-01

    Full Text Available Background Considering the significant geographical and ethnical differences in pattern of incidence, etiology and outcome of chronic kidney disease (CKD, the present study aimed to assess the etiology and outcome of CKD in Iranian children. Materials and Methods In a cross-sectional study etiology and outcome of 372 children aged 3 months to 18 years with CKD was studied during the period 1991 –2014. Children (186 boys, 186 girls with Stage 3 to 5 CKDs, defined as a glomerular filtration rate below 60 ml/min per 1.73 m2body surface area, were identified. Results Etiology was congenital anomalies of the kidney and urinary tract in 125 (33.60%, cystic/ hereditary/ congenital diseases in 91 (24.46%, glomerulopathy in 73(19.62%, and cause unknown in 71 (19.09% patients. Forty-eight (13.22% were on conservative treatment, 174(47.93% had end-stage renal disease (ESRD with chronic hemodialysis, 24 (6.61% were on continuous ambulatory peritoneal dialysis. Sixty-eight (18.74% underwent on renal transplant which was successful in 52 (14.33% patients but was associated with abnormal renal function in 16(4.41% children. Finally, 49 (13.50% patients died. Conclusion A large number of children developed CKD secondary to congenital anomalies of the kidney and urinary tract. Planning for screening, early detection and instituting timely treatment of preventable causes could lead to a lower incidence of CKD in this group of children.

  12. Etiology of congenital hypothyroidism in Isfahan: Does it different?

    Directory of Open Access Journals (Sweden)

    Mahin Hashemipour

    2014-01-01

    Conclusion: Seven years of our experiences in CH screening program indicated that the etiology of CH in Isfahan, with a higher rate of CH, with a predominance of thyroid dyshormonogenesis is different from most of the studies world-wide and similar to other reports from Iran. The findings of the current study provide us baseline information for determination of CH pathogenesis in this region.

  13. Prognostic value of EEG in different etiological types of coma.

    Science.gov (United States)

    Khaburzania, M; Beridze, M

    2013-06-01

    Study aimed at evaluation of prognostic value of standard EEG in different etiology of coma and the influence of etiological factor on the EEG patterns and coma outcome. Totally 175 coma patients were investigated. Patients were evaluated by Glasgow Coma Scale (GCS), clinically and by 16 channel electroencephalography. Auditory evoked potentials studied by EEG -regime for evoked potentials in patients with vegetative state (VS). Patients divided in 8 groups according to coma etiology. All patients were studied for photoreaction, brainstem reflexes, localization of sound and pain, length of coma state and outcome. Brain injury visualized by conventional CT. Outcome defined as death, VS, recovery with disability and without disability. Disability was rated by Disability Rating Scale (DRS). Recovered patients assessed by Mini Mental State Examination (MMSE) scale. Statistics performed by SPSS-11.0. From 175 coma patients 55 patients died, 23 patients found in VS, 97 patients recovered with and without disability. In all etiological groups of coma the background EEG patterns were established. Correspondence analysis of all investigated factors revealed that sound localization had the significant association with EEG delta and theta rhythms and with recovery from coma state (Chi-sqr. =31.10493; p= 0.000001). Among 23 VS patients 9 patients had the signs of MCS and showed the long latency waves (p300) after binaural stimulation. The high amplitude theta frequencies in frontal and temporal lobes significantly correlated with prolongation of latency of cognitive evoked potentials (r=+0.47; pEEG patterns' association with coma outcome only in hemorrhagic and traumatic coma (chi-sqr.=12.95; pEEG patterns and coma outcome. Low amplitude decreased power delta and theta frequencies correlated with SND in survived coma patients (r=+0.21; pEEG is the useful tool for elucidation of coma patients with a high probability to recover as well as those patients, who are at high risk of

  14. UTIs in small animal patients: part 1: etiology and pathogenesis.

    Science.gov (United States)

    Smee, Nicole; Loyd, Kimberly; Grauer, Greg

    2013-01-01

    Understanding how urinary tract infections (UTIs) can occur and how to classify them can help the practitioner to make a plan for treatment. This review summarizes the etiology, pathogenesis, and host defense mechanisms associated with bacterial UTIs in dogs and cats. UTIs in Small Animal Patients: Part 2: Diagnosis, Treatment, and Complications will appear in the March/April 2013 issue of the Journal of the American Animal Hospital Association.

  15. Etiology, prevalence, and treatment of dry eye disease

    OpenAIRE

    Gayton, Johnny L

    2009-01-01

    Johnny L GaytonEyesight Associates, Warner Robins, GA, USAPurpose: This review article examines the prevalence, etiology, and current therapies of dry eye disease, with special focus on postmenopausal women.Method: A systematic literature search utilizing MEDLINE was conducted to identify peer-reviewed articles related to dry eye published prior to September 2008. The terms “dry eye” and “women” were searched in combination with one or more of the follo...

  16. Epidemiological and etiological aspects of burning mouth syndrome.

    Science.gov (United States)

    Coculescu, E C; Tovaru, S; Coculescu, B I

    2014-09-15

    Burning mouth syndrome (BMS) is defined as a chronic pain condition characterized by a burning sensation in clinically healthy oral mucosa. Incidence BMS diagnosed in the Department of Oral Medicine - Oral Pathology Dental Faculty of Medicine, "Carol Davila" University of Medicine and Pharmacy Bucharest is 16,23%. The etiology of BMS remains far less known. This article makes an overview of the latest theories about possible etiopathogenic factors involved in the occurrence of BMS.

  17. Clinico-etiologic correlates of onychomycosis in Sikkim

    OpenAIRE

    Adhikari Luna; Gupta Atrayee; Pal Ranabir; Singh T.S.K

    2009-01-01

    Aims and objectives: The etiological spectrum of any superficial mycosis is largely dependent on the flora in the immediate environment of the individual. It is influenced by the geographic, climatic and occupational factors. The study is basically to formulate baseline data for the species prevalence of various dermatophytes in patients with onychomycosis attending the Central Referral Hospital, Gangtok, Sikkim. Materials and Methods: Thirty-four clinically suspected cases of onychomycosi...

  18. Prevalence, etiological factors and the treatment of infant exogenous obesity

    OpenAIRE

    Edio Luiz Petroski; Ludmila Dalben Soares

    2003-01-01

    In the last few years, there has been considerable interest in the effects of excessive weight gain during childhood, due to the fact that the development of fat tissue in this period is a determinant of adult body composition. The objective of this study was to investigate the prevalence of infant obesity, to identify possible etiological factors, and to highlight treatments that have been used to reduce and/or prevent child obesity. Results have shown that obesity has increased more than an...

  19. YEASTS AS A POSSIBLE ETIOLOGICAL FACTOR OF AUTISM

    Directory of Open Access Journals (Sweden)

    Mila SELAKOVIKJ

    2000-12-01

    Full Text Available Yeasts have to be considered as an etiological factor of autism. Urine testing by professor W. Shaw’s method is being done in all major laboratories in the USA. Tests for proving the existence of unidentified diseases with a fault in metabolism, lack of vitamins and the existence of abnormal metabolites cateholamine, dopamine, and serotonine can be done. The existence of 62 substances can be tested for time being, and according to that, adequate treatment can be undertaken.

  20. A survey of etiologic hypotheses among testicular cancer researchers.

    Science.gov (United States)

    Stang, A; Trabert, B; Rusner, C; Poole, C; Almstrup, K; Rajpert-De Meyts, E; McGlynn, K A

    2015-01-01

    Basic research results can provide new ideas and hypotheses to be examined in epidemiological studies. We conducted a survey among testicular cancer researchers on hypotheses concerning the etiology of this malignancy. All researchers on the mailing list of Copenhagen Testis Cancer Workshops and corresponding authors of PubMed-indexed articles identified by the search term 'testicular cancer' and published within 10 years (in total 2750 recipients) were invited to respond to an e-mail-based survey. Participants of the 8th Copenhagen Testis Cancer Workshop in May 2014 were subsequently asked to rate the plausibility of the suggested etiologic hypotheses on a scale of 1 (very implausible) to 10 (very plausible). This report describes the methodology of the survey, the score distributions by individual hypotheses, hypothesis group, and the participants' major research fields, and discuss the hypotheses that scored as most plausible. We also present plans for improving the survey that may be repeated at a next international meeting of experts in testicular cancer. Overall 52 of 99 (53%) registered participants of the 8th Copenhagen Testis Cancer Workshop submitted the plausibility rating form. Fourteen of 27 hypotheses were related to exposures during pregnancy. Hypotheses with the highest mean plausibility ratings were either related to pre-natal exposures or exposures that might have an effect during pregnancy and in post-natal life. The results of the survey may be helpful for triggering more specific etiologic hypotheses that include factors related to endocrine disruption, DNA damage, inflammation, and nutrition during pregnancy. The survey results may stimulate a multidisciplinary discussion about new etiologic hypotheses of testicular cancer. Published 2014. This article is a U. S. Government work and is in the public domain in the USA.

  1. Comprehensive geriatric assessment

    African Journals Online (AJOL)

    2007-09-14

    Sep 14, 2007 ... i.e. difficulty performing simple physical and mental tasks necessary for daily life. ... Definition. Comprehensive geriatric assessment (CGA) is a multidimensional .... The formation of a programme of therapy is decided on.

  2. Spectrum of physics comprehension

    International Nuclear Information System (INIS)

    Blasiak, W; Godlewska, M; Rosiek, R; Wcislo, D

    2012-01-01

    The paper presents the results of research on the relationship between self-assessed comprehension of physics lectures and final grades of junior high school students (aged 13-15), high school students (aged 16-18) and physics students at the Pedagogical University of Cracow, Poland (aged 21). Students' declared level of comprehension was measured during a physics lecture on a prearranged scale of 1-10 with the use of a personal response system designed for the purpose of this experiment. Through the use of this tool, we obtained about 2000 computer records of students' declared comprehension of a 45 min lecture, which we named ‘the spectrum of comprehension’. In this paper, we present and analyse the correlation between students' declared comprehension of the content presented in the lecture and their final learning results. (paper)

  3. La etiología de la esquizofrenia The etiology of schizophrenia

    Directory of Open Access Journals (Sweden)

    Pablo V. Gejman

    2012-06-01

    Full Text Available Las investigaciones realizadas en los últimos años iniciaron una nueva era de conocimiento de los factores de riesgo de la esquizofrenia. Por otra parte, los métodos de estudio del genoma completo han revolucionado el campo del mapeado genético de la esquizofrenia. Estudios genéticos recientes sugieren que la variación genética rara y la variación genética común tienen una función importante en la arquitectura genética de la esquizofrenia, que el modelo poligénico es correcto, e indican una superposición de los factores genéticos que confieren susceptibilidad a la esquizofrenia y otros trastornos psiquiátricos, como el trastorno bipolar y el autismo (pleotropía. Los programas de resecuenciación del genoma completo permitirán una disección más profunda de la genética molecular de la enfermedad. Uno de los desafíos importantes de la psiquiatría genética es la traducción de las asociaciones estadísticas detectadas en estudios de genoma completo en una mejor comprensión fisiopatológica de la esquizofrenia.Research conducted in recent years represents a new dawn of knowledge for the risk factors of schizophrenia, and genome-wide approaches have revolutionized the field of genetic mapping of schizophrenia. The aggregate genetic data increasingly support a combination of rare and common genetic variation in schizophrenia, a major role for polygenic inheritance, and a genetic overlap (pleiotropy of schizophrenia and other psychiatric disorders, such as bipolar disorder and autism. A main challenge for the field is the translation of established genetic associations into a better pathophysiological understanding of schizophrenia. The current and upcoming resequencing programs - both exomes (all exons and full genomes - and genome-wide transcriptional analyses will allow a more thorough dissection of the molecular genetics of the disorder.

  4. [Epidemiologic findings of the etiology of psychogenic diseases].

    Science.gov (United States)

    Franz, M; Schellberg, D; Schepank, H

    1993-01-01

    In an epidemiological longitudinal field study, a sample of high risk probands suffering from medium psychogenic impairment was investigated with regard to the etiological relevancy of factors influencing psychogenic disorders (psychoneuroses, character neuroses, psychosomatic and/or psychosomatic functional diseases). The study focused the question of the etiological impact of personality, life events, and social support. With theoretical reference to the psychodynamic concept of personality trained physicians and psychologists investigated 240 probands in a half standardized psychodynamic interview which included psychometric and social empiric instruments. Expert ratings and self ratings were used to assess the current psychogenic impairment. The impact of the constructs personality, critical life events, and social support on psychogenic impairment was specified in two path models. In both models psychodynamic personality variables had the highest impact on the criterium. Psychodynamically consistent, the ability to establish mature object relations and the maturity of ego functions was inversely related to the degree of psychogenic impairment, whereas an immature organisation of defense mechanisms exerted an aggravating influence on the severity of impairment. The present path analyses altogether point to a possible central etiological impact of personality and/or psychodynamic variables on the severity of psychogenic impairment.

  5. Pilonidal sinus disease - Etiological factors, pathogenesis and clinical features

    Directory of Open Access Journals (Sweden)

    Kazim Duman

    2016-12-01

    Full Text Available and lsquo;Pilonidal sinus' disease, which is most commonly seen in reproductive populations, such as young adults - mostly in males who are in their twenties - is actually a controversial disease in that there is no consensus on its many facets. It is sometimes seen as an infected abscess draining from an opening or a lesion extending to the perineum. It may also present as a draining fistula opening to skin. In terms of etiological factors, various theories (main theories being congenital and acquired have been established since it was first described, no universal understanding achieved. A long and significant post-operative care period with different lengths of recovery depending on the type of operation are quite prevalent with regards to recurrence and complication status. In order to prevent recurrence and improve the quality of life, etiological and predisposing factors as well as clinical features of sacrococcygeal pilonidal disease should be well known, a detailed differential diagnosis should be made, and a suitable and timely intervention should be performed. It was aimed here to explain the etiological factors, pathogenesis and clinical features of the disease that may present with various clinical symptoms. [Arch Clin Exp Surg 2016; 5(4.000: 228-232

  6. Bladder outlet obstruction (BOO) in female: etiology and management

    International Nuclear Information System (INIS)

    Shaikh, N.A.; Ahuja, K.; Shaikh, G.S.; Soomro, A.K.

    2015-01-01

    To determine the etiology and management outcome of bladder outlet obstruction (BOO) in female. Methodology: From 2009 to 2012, 37 females with a mean age of 40 (range 20-65) were investigated for etiology and management outcome of BOO. Typical complaints were slow urinary flow, difficulty in emptying bladder, frequency of micturition and urgency. Mean duration of symptoms was 6 month. Results: 15 women were confirmed as atrophic urethritis, 5 had functional bladder, 3 had urethral caruncle, 5 had cystocele, 7 had complete procedentia of uterus, and 2 had impacted urethral stone. Cystoscopy was performed in all patients to exclude other pathology like vesical stone and bladder growth. 12 patients were referred to Gynecology due to complete procedentia of uterus and cystocele. Three cases of urethral caruncle were treated by excision and biopsy, 2 patients with urethral stone were treated by endoscopic push back and litholapaxy while 5 required conservative treatment and 15 cases of atrophic urethritis were kept on Hormone Replacement Therapy (HRT). Conclusion: BOO is uncommon in female and management depends upon the etiology. (author)

  7. Evaluation of etiologic and prognostic factors in neonatal convulsions.

    Science.gov (United States)

    Yıldız, Edibe Pembegul; Tatlı, Burak; Ekici, Barış; Eraslan, Emine; Aydınlı, Nur; Calışkan, Mine; Ozmen, Meral

    2012-09-01

    This study evaluated etiologic and risk factors affecting long-term prognoses of neurologic outcomes in newborns with neonatal seizures. We enrolled patients at chronologic ages of 23-44 months, referred to the Department of Pediatric Neurology, Istanbul Medical Faculty, from January 1, 2007-December 31, 2009, after manifesting seizures in their first postnatal 28 days. Of 112 newborns, 41 were female, 71 were male, 33 were preterm, and 79 were full-term. Perinatal asphyxia (28.6%) and intracranial hemorrhage (17%) were the most common causes of neonatal seizures. Cerebral palsy developed in 27.6% of patients during follow-up. The incidence of epilepsy was 35.7%. Almost 50% of patients manifested developmental delay in one or more areas. Global developmental delay was the most common (50.8%) neurologic disorder. The correlation between gestational age or birth weight and adverse outcomes was nonsignificant. Etiology, Apgar score, need for resuscitation at birth, background electroencephalogram, neonatal status epilepticus, cranial imaging findings, type/duration of antiepileptic treatment, and response to acute treatment were all strong prognostic factors in neurologic outcomes. Neonatal seizures pose a threat of neurologic sequelae for preterm and full-term infants. Although the number of recognized etiologic factors in neonatal seizures has increased because of improvements in neonatology and diagnostic methods, perinatal asphyxia remains the most common factor. Copyright © 2012 Elsevier Inc. All rights reserved.

  8. Delinquent peer affiliation as an etiological moderator of childhood delinquency.

    Science.gov (United States)

    Burt, S A; Klump, K L

    2013-06-01

    Prior research has indicated that affiliation with delinquent peers activates genetic influences on delinquency during adolescence. However, because other studies have indicated that the socializing effects of delinquent peers vary dramatically across childhood and adolescence, it is unclear whether delinquent peer affiliation (DPA) also moderates genetic influences on delinquency during childhood. Method The current study sought to evaluate whether and how DPA moderated the etiology of delinquency in a sample of 726 child twins from the Michigan State University Twin Registry (MSUTR). The results robustly supported etiological moderation of childhood delinquency by DPA. However, this effect was observed for shared environmental, rather than genetic, influences. Shared environmental influences on delinquency were found to be several-fold larger in those with higher levels of DPA as compared to those with lower levels. This pattern of results persisted even when controlling for the overlap between delinquency and DPA. Our findings bolster prior work in suggesting that, during childhood, the association between DPA and delinquency is largely (although not solely) attributable to the effects of socialization as compared to selection. They also suggest that the process of etiological moderation is not specific to genetic influences. Latent environmental influences are also amenable to moderation by measured environmental factors.

  9. Identification of Hypotensive Emergency Department Patients with Cardiogenic Etiologies.

    Science.gov (United States)

    Henning, Daniel J; Kearney, Kathleen E; Hall, Michael Kennedy; Mahr, Claudius; Shapiro, Nathan I; Nichol, Graham

    2018-02-01

    Identify predictors of cardiogenic etiology among emergency department (ED) patients with hypotension, and use these predictors to create a clinical tool to discern cardiogenic etiology of hypotension. This secondary analysis evaluated a prospective cohort of consecutive patients with hypotension in an urban, academic, tertiary care ED from November 2012 to September 2013. We included adults with hypotension, defined as a new vasopressor requirement, systolic blood pressure (SBP)  0.1 ng/mL (37.5, 7.1-198.2), electrocardiographic ischemia (8.9, 4.0-19.8), history of heart failure (2.0, 1.1-3.3), and absence of fever (4.5, 2.3-8.7) (area under the curve [AUC] = 0.83). The prediction score created from these predictors yielded 78% sensitivity and 77% specificity for cardiogenic etiology (AUC = 0.827). Clinical predictors offer reasonable ED screening sensitivity for cardiogenic hypotension, while demonstrating sufficient specificity to facilitate early cardiac interventions.

  10. Von Hippel-Lindau (VHL inactivation in sporadic clear cell renal cancer: associations with germline VHL polymorphisms and etiologic risk factors.

    Directory of Open Access Journals (Sweden)

    Lee E Moore

    2011-10-01

    Full Text Available Renal tumor heterogeneity studies have utilized the von Hippel-Lindau VHL gene to classify disease into molecularly defined subtypes to examine associations with etiologic risk factors and prognosis. The aim of this study was to provide a comprehensive analysis of VHL inactivation in clear cell renal tumors (ccRCC and to evaluate relationships between VHL inactivation subgroups with renal cancer risk factors and VHL germline single nucleotide polymorphisms (SNPs. VHL genetic and epigenetic inactivation was examined among 507 sporadic RCC/470 ccRCC cases using endonuclease scanning and using bisulfite treatment and Sanger sequencing across 11 CpG sites within the VHL promoter. Case-only multivariate analyses were conducted to identify associations between alteration subtypes and risk factors. VHL inactivation, either through sequence alterations or promoter methylation in tumor DNA, was observed among 86.6% of ccRCC cases. Germline VHL SNPs and a haplotype were associated with promoter hypermethylation in tumor tissue (OR = 6.10; 95% CI: 2.28-16.35, p = 3.76E-4, p-global = 8E-5. Risk of having genetic VHL inactivation was inversely associated with smoking due to a higher proportion of wild-type ccRCC tumors [former: OR = 0.70 (0.20-1.31 and current: OR = 0.56 (0.32-0.99; P-trend = 0.04]. Alteration prevalence did not differ by histopathologic characteristics or occupational exposure to trichloroethylene. ccRCC cases with particular VHL germline polymorphisms were more likely to have VHL inactivation through promoter hypermethylation than through sequence alterations in tumor DNA, suggesting that the presence of these SNPs may represent an example of facilitated epigenetic variation (an inherited propensity towards epigenetic variation in renal tissue. A proportion of tumors from current smokers lacked VHL alterations and may represent a biologically distinct clinical entity from inactivated cases.

  11. The spectrum of aphasia subtypes and etiology in subacute stroke.

    Science.gov (United States)

    Hoffmann, Michael; Chen, Ren

    2013-11-01

    Aphasia is one of the most common stroke syndrome presentations, yet little is known about the spectrum of different subtypes or their stroke mechanisms. Yet, subtypes and etiology are known to influence the prognosis and recovery. Our aim is to analyze aphasia subtypes and etiology in a large subacute stroke population. Consecutive patients from a dedicated cognitive stroke registry were accrued. A validated cognitive screening examination was administered during the first month of stroke presentation, which enabled a diagnosis of 14 different aphasic subtypes. The evolution from one subtype to another in the acute and subacute period, at times, resulted in more than 1 subtype being diagnosed. Etiology of stroke was determined by the modified Trial of Org 10172 in Acute Stroke Treatment criteria that included intracerebral hemorrhage. Exclusions included dementia, chronic medical illness, substance abuse, and severe depression. Of 2389 stroke patients, after exclusions (n=593), aphasias numbered 625 (625 of 1796; 34.8%), and the subtype frequencies included Broca aphasia (n=170; 27.2%), anomic aphasia (n=165; 26.4%), global aphasia (n=119; 19.04%), and subcortical aphasia (n=57; 9.12%). Less frequent subtypes (total n=40; 6.7%) included transcortical aphasia (n=11), Wernicke aphasia (n=10), conduction aphasia (n=7), aphemia (n=3), semantic aphasia (n=3), crossed aphasia (n=3), pure word deafness (n=2), and foreign accent syndrome (n=1). Aphasia subtypes and etiologies had some significant associations (chi-square: 855.8, P valueaphasia had a significant association with small-vessel disease (SVD) (odds ratio [OR]=2.0254, 95% confidence interval [CI]: 1.3820-2.9681), and global aphasia patients mostly had cardioembolic (CE) causes (OR=2.3589, 95% CI: 1.5506-3.5885) and less likely SVD (OR=.2583, 95% CI: .1444-.4654). Other notable inferences were included. Wernicke aphasia was caused by either CE (6 of 12; 50%) or hemorrhage (4 of 12; 33.3%) in a combined 83% of

  12. Systems Biology Approaches for the Prediction of Possible Role of Chlamydia pneumoniae Proteins in the Etiology of Lung Cancer.

    Directory of Open Access Journals (Sweden)

    Shahanavaj Khan

    Full Text Available Accumulating evidence has recently supported the association of bacterial infection with the growth and development of cancers, particularly in organs that are constantly exposed to bacteria such as the lungs, colon, cervical cancer etc. Our in silico study on the proteome of Chlamydia pneumoniae suggests an unprecedented idea of the etiology of lung cancer and have revealed that the infection of C. pneumoniae is associated with lung cancer development and growth. It is reasonable to assume that C. pneumoniae transports its proteins within host-intracellular organelles during infection, where they may work with host-cell proteome. The current study was performed for the prediction of nuclear targeting protein of C. pneumoniae in the host cell using bioinformatics predictors including ExPASy pI/Mw tool, nuclear localization signal (NLS mapper, balanced sub cellular localization predictor (BaCeILo, and Hum-mPLoc 2.0. We predicted 47/1112 nuclear-targeting proteins of C. pneumoniae connected with several possible alterations in host replication and transcription during intracellular infection. These nuclear-targeting proteins may direct to competitive interactions of host and C. pneumoniae proteins with the availability of same substrate and may be involved as etiological agents in the growth and development of lung cancer. These novel findings are expected to access in better understanding of lung cancer etiology and identifying molecular targets for therapy.

  13. Neurological Autoantibody Prevalence in Epilepsy of Unknown Etiology.

    Science.gov (United States)

    Dubey, Divyanshu; Alqallaf, Abdulradha; Hays, Ryan; Freeman, Matthew; Chen, Kevin; Ding, Kan; Agostini, Mark; Vernino, Steven

    2017-04-01

    Autoimmune epilepsy is an underrecognized condition, and its true incidence is unknown. Identifying patients with an underlying autoimmune origin is critical because these patients' condition may remain refractory to conventional antiseizure medications but may respond to immunotherapy. To determine the prevalence of neurological autoantibodies (Abs) among adult patients with epilepsy of unknown etiology. Consecutive patients presenting to neurology services with new-onset epilepsy or established epilepsy of unknown etiology were identified. Serum samples were tested for autoimmune encephalitis Abs as well as thyroperoxidase (TPO) and glutamic acid decarboxylase 65 (GAD65) Abs. An antibody prevalence in epilepsy (APE) score based on clinical characteristics was assigned prospectively. Data were collected from June 1, 2015, to June 1, 2016. Presence of neurological Abs. A score based on clinical characteristics was assigned to estimate the probability of seropositivity prior to antibody test results. Good seizure outcome was estimated on the basis of significant reduction of seizure frequency at the first follow-up or seizure freedom. Of the 127 patients (68 males and 59 females) enrolled in the study, 15 were subsequently excluded after identification of an alternative diagnosis. Serum Abs suggesting a potential autoimmune etiology were detected in 39 (34.8%) cases. More than 1 Ab was detected in 7 patients (6.3%): 3 (2.7%) had TPO-Ab and voltage-gated potassium channel complex (VGKCc) Ab, 2 (1.8%) had GAD65-Ab and VGKCc-Ab, 1 had TPO-Ab and GAD65-Ab, and 1 had anti-Hu Ab and GAD65-Ab. Thirty-two patients (28.6%) had a single Ab marker. Among 112 patients included in the study, 15 (13.4%) had TPO-Ab, 14 (12.5%) had GAD65-Ab, 12 (10.7%) had VGKCc (4 of whom were positive for leucine-rich glioma-inactivated protein 1 [LGI1] Ab), and 4 (3.6%) had N-methyl-D-aspartate receptor (NMDAR) Ab. Even after excluding TPO-Ab and low-titer GAD65-Ab, Abs strongly suggesting an

  14. Etiology and outcome of acute renal failure in pregnancy.

    Science.gov (United States)

    Hassan, Irfana; Junejo, Abdul Manan; Dawani, Manohar Lal

    2009-11-01

    To determine the etiology and outcome of Acute Renal Failure (ARF) in pregnancy. A case series. Nephrology Department of the Jinnah Postgraduate Medical Centre, Karachi, from August 2007 to July 2008. Pregnant women who were healthy previously and had developed ARF, diagnosed on oliguria (urine output 2 mg%) were included in the study. Percutaneous renal biopsy was performed for delayed recovery, i.e. after three weeks. Patients were followed up for a period of 6 months. Percentages were calculated for qualitative variables i.e. causes of ARF, mortality, morbidity and outcome in form of complete recovery, partial recovery, demise and non-recovery. A total of 43 patients with pregnancy-related ARF were included in the study. The puerperal group comprised 36 patients (83.7%). Haemorrhage was the etiology for ARF in 25 (58.1%), antepartum haemorrhage APH in 8 (18.6%) and postpartum haemorrhage PPH in 16 (37.2%) of patients. In 12 (27.9%), puerperal sepsis was the etiological factor, while 4 (9.3%) patients had DIC on presentation. Pre-eclampsia, eclampsia and HELLP syndrome accounted for 5 (11.6%). While 1 (2.3%) was diagnosed with hemolytic uremic syndrome and another one was diagnosed as ARF secondary to hypotension produced by hyperemesis gravidarum. Renal biopsy was performed in 31 patients showing that 10 had acute cortical necrosis and 21 had acute tubular necrosis. Maternal mortality was 16.2% (n=7). Of the 36 (83.7%) surviving patients, 18 (41.4%) had complete recovery of renal function; 12 (27.9%) had partial recovery; and 6 (13.9%) required chronic dialysis. Pregnancy-related ARF was associated with poor outcome. Antepartum and postpartum haemorrhage were the most common cause of ARF in pregnancy.

  15. Neurodevelopmental Hypothesis about the Etiology of Autism Spectrum Disorders

    Directory of Open Access Journals (Sweden)

    Toshio Inui

    2017-07-01

    Full Text Available Previous models or hypotheses of autism spectral disorder (ASD failed to take into full consideration the chronological and causal developmental trajectory, leading to the emergence of diverse phenotypes through a complex interaction between individual etiologies and environmental factors. Those phenotypes include persistent deficits in social communication and social interaction (criteria A in DSM-5, and restricted, repetitive patterns of behavior, interests, or activities (criteria B in DSM-5. In this article, we proposed a domain-general model that can explain criteria in DSM-5 based on the assumption that the same etiological mechanism would trigger the various phenotypes observed in different individuals with ASD. In the model, we assumed the following joint causes as the etiology of autism: (1 Hypoplasia of the pons in the brainstem, occurring immediately following neural tube closure; and (2 Deficiency in the GABA (γ-aminobutyric acid developmental switch during the perinatal period. Microstructural abnormalities of the pons directly affect both the structural and functional development of the brain areas strongly connected to it, especially amygdala. The impairment of GABA switch could not only lead to the deterioration of inhibitory processing in the neural network, but could also cause abnormal cytoarchitecture. We introduced a perspective that atypical development in both brain structure and function can give full explanation of diverse phenotypes and pathogenetic mechanism of ASD. Finally, we discussed about neural mechanisms underlying the phenotypic characteristics of ASD that are not described in DSM-5 but should be considered as important foundation: sleep, global precedence, categorical perception, intelligence, interoception and motor control.

  16. A framework for the etiology of running-related injuries.

    Science.gov (United States)

    Bertelsen, M L; Hulme, A; Petersen, J; Brund, R K; Sørensen, H; Finch, C F; Parner, E T; Nielsen, R O

    2017-11-01

    The etiology of running-related injury is important to consider as the effectiveness of a given running-related injury prevention intervention is dependent on whether etiologic factors are readily modifiable and consistent with a biologically plausible causal mechanism. Therefore, the purpose of the present article was to present an evidence-informed conceptual framework outlining the multifactorial nature of running-related injury etiology. In the framework, four mutually exclusive parts are presented: (a) Structure-specific capacity when entering a running session; (b) structure-specific cumulative load per running session; (c) reduction in the structure-specific capacity during a running session; and (d) exceeding the structure-specific capacity. The framework can then be used to inform the design of future running-related injury prevention studies, including the formation of research questions and hypotheses, as well as the monitoring of participation-related and non-participation-related exposures. In addition, future research applications should focus on addressing how changes in one or more exposures influence the risk of running-related injury. This necessitates the investigation of how different factors affect the structure-specific load and/or the load capacity, and the dose-response relationship between running participation and injury risk. Ultimately, this direction allows researchers to move beyond traditional risk factor identification to produce research findings that are not only reliably reported in terms of the observed cause-effect association, but also translatable in practice. © 2017 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  17. Status epilepticus in pregnancy: Etiology, management, and clinical outcomes.

    Science.gov (United States)

    Rajiv, Keni Ravish; Radhakrishnan, Ashalatha

    2017-11-01

    Status epilepticus (SE) in pregnancy carries significant risk to both mother and fetus. There is limited literature available on SE occurring in pregnancy world-over, with majority being from obstetric centers. All women who developed SE related to pregnancy (gestation, labor, or puerperium) between January 2000 and December 2016 were included in the study. Data were collected from our SE registry, maintained, and archived in the institute. The variables influencing the maternal and fetal outcome were compared using Student's t-test for continuous variables and Fisher's exact test for discrete variables. During the 16-year study period, a total of 348 SE events were recorded in 294 patients. Among these, there were 138 women, of which 17 had SE related to pregnancy. The etiology of SE was remote symptomatic in two and acute symptomatic in 15 patients. The various causes detected after initial evaluation for acute symptomatic SE were eclampsia (n=4), posterior reversible encephalopathy syndrome due to various causes other than eclampsia (n=6), cortical venous thrombosis (n=3), subarachnoid hemorrhage (n=1), and NMDA receptor antibody-mediated encephalitis (n=1).13 of 17 women with SE (76%) had good outcome. Majority of the fetuses had good outcomes, i.e., Category 1 (n=9, 57%). Duration of intensive care unit stay (p=0.029) and Status Epilepticus Severity Score (p=0.0324) at admission, were found to be significantly associated with poor outcomes. In any patient presenting with SE occurring in pregnancy, though eclampsia is presumed to be the most common overall cause; it is relevant to consider other etiologies such as posterior reversible encephalopathy syndrome, cortical venous thrombosis, and autoimmune encephalitis especially in cases presenting with refractory SE. Posterior reversible encephalopathy may occur in pregnancy due to diverse etiologies other than eclampsia. Copyright © 2017 Elsevier Inc. All rights reserved.

  18. Etiology of growth hormone deficiency in children and adolescents

    Directory of Open Access Journals (Sweden)

    Mitrović Katarina

    2013-01-01

    Full Text Available Introduction. Growth hormone deficiency (GHD can be isolated or associated with deficiency of other pituitary gland hormones. According to age at diagnosis, causes of GHD are divided into congenital or acquired, and according to etiology into recognized and unknown. Objective. We analyzed etiology and prevalence of GHD, demographic data at birth, age, body height (BH and bone age at diagnosis as well as the frequency of other pituitary hormone deficiencies. Methods. The study involved 164 patients (109 male. The main criterion for the diagnosis of GHD was inadequate response of GH after two stimulation tests. The patients were classified into three groups: idiopathic, congenital and acquired GHD. Results. Idiopathic GHD was confirmed in 57.9% of patients, congenital in 11.6% and acquired in 30.5%. The mean age at diagnosis of GHD was 10.1±4.5 years. The patients with congenital GHD had most severe growth retardation (-3.4±1.4 SDS, while the patients with idiopathic GHD showed most prominent bone delay (-3.6±2.3 SDS. The prevalence of multiple pituitary hormone deficiency was 56.1%, in the group with congenital GHD 73.7%, acquired GHD 54.0% and idiopathic GHD 53.7%. The frequency of thyrotropin deficiency ranged from 88.2-100%, of adrenocorticotrophin 57.1-68.8% and of gonadotrophins deficiency 57.1- 63.0%, while deficiency of antidiuretic hormone was 2.0-25.0%. Conclusion. Although regular BH measurements enable early recognition of growth retardation, patients’ mean age and degree of growth retardation indicate that GHD is still diagnosed relatively late. A high incidence of other pituitary hormone deficiencies requires a detailed investigation of the etiology of disorders and evaluation of all pituitary functions in each child with confirmed GHD.

  19. The Etiology of Cleft Palate: a 50 year search for mechanistic and molecular understanding

    Science.gov (United States)

    Dates of special, historical significance, such as the 50th anniversary of the founding of the Teratology Society, prompt a desire to pause and look back and contemplate where we began, how far we have come, and consider the future for our scientific endeavors. The study of the e...

  20. Evaluation of the health impact of aerosols emitted from different combustion sources: Comprehensive characterization of the aerosol physicochemical properties as well as the molecular biological and toxicological effects of the aerosols on human lung cells and macrophages.

    Science.gov (United States)

    Zimmermann, R.; Dittmar, G.; Kanashova, T.; Buters, J.; Öder, S.; Paur, H. R.; Mülhopt, S.; Dilger, M.; Weiss, C.; Harndorf, H.; Stengel, B.; Hirvonen, M. R.; Jokiniemi, J.; Hiller, K.; Sapcariu, S.; Sippula, O.; Streibel, T.; Karg, E.; Weggler, B.; Schnelle-Kreis, J.; Lintelmann, J.; Sklorz, M.; Orasche, J.; Müller, L.; Passig, J.; Gröger, T.; Jalava, P. I.; Happo, M.; Uski, O.

    2017-12-01

    A novel approach to evaluate the health effects of anthropogenic combustion emissions is the detailed comparison of comprehensive physicochemical data on the combustion aerosol properties with the biological response of aerosol-exposed lung cells. In this context the "HICE-Aerosol and Health" project consortium studies the properties as well as the biological and toxicological effects on lung cells induced by different combustion aerosol emissions (e.g. ship diesel exhaust, wood combustion effluents or automobile aerosol). Human alveolar epithelial cells (e.g. A549 cells) as well as murine macrophages were exposed to diluted emissions, using field deployable ALI-exposition systems in a mobile S2-biological laboratory. This allows a realistic lung-cell exposure by simulation of the lung situation. The cellular effects were then comprehensively characterized (cytotoxicology, transcriptomics, proteomics etc.) effects monitoring and put in context with the chemical and physical aerosol data. Emissions of wood combustion, a ship engine as well as diesel and gasoline engines were investigated. Furthermore for some experiments the atmospheric aging of the emission was simulated in a flow tube reactor using UV-light and ozone. Briefly the following order of cellular response-strength was observed: A relatively mild cellular effect is observed for the diluted wood combustion emissions, regardless if log-wood and pellet burner emissions are investigated. Similarly mild biological effects are observed for gasoline car emissions. The ship diesel engine emissions and construction machine diesel engine induced much more intense biological responses. A surprising result in this context is, that heavy fuel oil (HFO)-emissions show lower biological effect strengths than the supposedly cleaner diesel fuel emissions (DF). The HFO-emissions contain high concentrations of known toxicants (metals, polycyclic aromatics). This result was confirmed by experiments with murine macrophages

  1. Facial diplegia: etiology, clinical manifestations, and diagnostic evaluation

    Directory of Open Access Journals (Sweden)

    Sefer Varol

    2015-12-01

    Full Text Available ABSTRACT Objective Facial diplegia (FD is a rare neurological manifestation with diverse causes. This article aims to systematically evaluate the etiology, diagnostic evaluation and treatment of FD. Method The study was performed retrospectively and included 17 patients with a diagnosis of FD. Results Patients were diagnosed with Guillain-Barré syndrome (GBS (11, Bickerstaff’s brainstem encephalitis (1, neurosarcoidosis (1, non-Hodgkin’s Lymphoma (1, tuberculous meningitis (1 herpes simplex reactivation (1 and idiopathic (1. In addition, two patients had developed FD during pregnancy. Conclusion Facial diplegia is an ominous symptom with widely varying causes that requires careful investigation.

  2. Prostate cancer - epidemiology, etiology, diagnostics, clinical symptoms, screening

    International Nuclear Information System (INIS)

    Ondrus, D.

    2006-01-01

    Prostate cancer presents a real important medical and social problem at present. It is one of the most common malignancy in males. In global point of view it means permanent incidence increase of this disease. Despite improvement of prostate cancer diagnosis and complex treatment mortality does not decreased significantly. Knowledge of etiological factors are relatively limited. Important factors are: genetic disposition, age, life style, race, positive familial history, circulated androgens. Diagnostics is well known, based on routine clinical methods: digital rectal examination, measurement of PSA a transrectal ultrasound. Benefit of prostate cancer screening is until now unclear, controversial. (author)

  3. A computational approach to chemical etiologies of diabetes

    DEFF Research Database (Denmark)

    Audouze, Karine Marie Laure; Brunak, Søren; Grandjean, Philippe

    2013-01-01

    Computational meta-analysis can link environmental chemicals to genes and proteins involved in human diseases, thereby elucidating possible etiologies and pathogeneses of non-communicable diseases. We used an integrated computational systems biology approach to examine possible pathogenetic...... linkages in type 2 diabetes (T2D) through genome-wide associations, disease similarities, and published empirical evidence. Ten environmental chemicals were found to be potentially linked to T2D, the highest scores were observed for arsenic, 2,3,7,8-tetrachlorodibenzo-p-dioxin, hexachlorobenzene...

  4. Occult etiologies of complete atrioventricular block: Report of two cases

    Directory of Open Access Journals (Sweden)

    Neeta Bachani

    2016-09-01

    Full Text Available In patients presenting with complete atrioventricular (AV block, the common causes are degeneration of the conduction system, acute myocardial infarction, congenital and metabolic disorders (such as azotemia. However, at times, no cause can be ascribed and the label congenital or degenerative is applied depending on the patient's age and the QRS complex width. We present two cases of patients with complete AV block, who were subsequently found to have rare etiologies – sarcoidosis (with isolated feature of AV block and non-Hodgkin's lymphoma.

  5. Ischemic stroke in young adults: an overview of etiological aspects

    Directory of Open Access Journals (Sweden)

    Fábio Iuji Yamamoto

    2012-06-01

    Full Text Available Stroke affects mainly people aged over 65 years, and atherosclerosis predominates as the main etiopathogenic factor in ischemic stroke (IS. On the other hand, cardiac embolism and arterial dissection are the most frequent causes of IS in patients aged less than 45 years. However, inappropriate control of traditional vascular risk factors in young people may be causing a significant increase of atherosclerosis-related IS in this population. Furthermore, a variety of etiologies, many of them uncommon, must be investigated. In endemic regions, neurocysticercosis and Chagas' disease deserve consideration. Undetermined cause has been still reported in as many as one third of young stroke patients.

  6. ["Flare-up" during endodontic treatment--etiology and management].

    Science.gov (United States)

    Zuckerman, O; Metzger, Z; Sela, G; Lin, S

    2007-04-01

    "Flare-ups" during or following endodontic treatment are not uncommon. A "Flare-up" refers to post-operative pain and/or swelling resulting from bacterial, mechanical or chemical irritation. Prompt diagnosis and treatment are essential for reducing patients' pain and discomfort. Prevention of bacterial, chemical or mechanical invasion to the periapical tissues is the best approach. Other treatment modalities which reduce the probability of periradicular tissue irritation should also be adopted. Etiology, prevention, diagnosis and treatment options of "flare-up" cases are discussed as well as indications for analgesics, in accordance with the severity of the pain.

  7. Nontraumatic spinal cord injury: etiology, demography and clinics

    OpenAIRE

    Quintana-Gonzales, Asencio; Dirección Ejecutiva de Investigación, Docencia y Rehabilitación Integral en Funciones Motoras, Instituto Nacional de Rehabilitación. Callao, Perú. Médico Rehabilitador.; Sotomayor-Espichan, Rosa; Departamento de Investigación, Docencia y Rehabilitación Integral en Lesiones Medulares, Instituto Nacional de Rehabilitación. Callao, Perú. Médico Rehabilitado.; Martínez-Romero, María; Departamento de Investigación, Docencia y Rehabilitación Integral en Lesiones Medulares, Instituto Nacional de Rehabilitación. Callao, Perú. Médico Rehabilitador.; Kuroki-García, César; Departamento de Investigación, Docencia y Rehabilitación Integral en Unidad Motora y Dolor, Instituto Nacional de Rehabilitación. Callao, Perú. Médico Rehabilitador.

    2014-01-01

    We performed a retrospective and descriptive cross-sectional; study in 210 hospitalized patients with spinal cord injury at the National Institute of Rehabilitation (INR), Callao, Peru from 2000-2006. The goal was to describe etiology, and clinical and socio-demographic characteristics of non traumatic spinal cord injuries (LMNT). We found a prevalence of 27 % for LMNT, average age at onset of 32.0 years, male gender 50.5 %, and secondary education completed in 41.9 %, poverty 90.5 %. The inf...

  8. Etiologic diagnostic value of angioscan imaging in cerebromeningeal hemorrhage

    International Nuclear Information System (INIS)

    Bourree, Y.; Plassart, F.; Rieux, D.; Caron-Poitreau, C.

    1987-01-01

    Etiologic diagnosis of cerebromeningeal hemorrhage was suspected on CT scan without contrast imaging as a function of distribution of cisternal hyperdensities and/or topography of intracerebral hematomas and/or distribution of parenchymatous hypodensities. It was established in 90 % of cases by results of angioscan (type and site of vascular malformation causing the cerebromeningeal hemorrhage are defined with this percent exactitude). Cerebral arteriography provides indispensable precise morphologic data on the vascular malformation: exact site of aneurysm or arteriovenous malformation, orientation of the aneurysm and presence or absence of a collar. It is therefore irreplaceable and will be guided by data from the angio-CT scan [fr

  9. Etiology of child maltreatment: a developmental-ecological analysis.

    Science.gov (United States)

    Belsky, J

    1993-11-01

    This article applies a developmental-ecological perspective to the question of the etiology of physical child abuse and neglect by organizing the paper around a variety of "contexts of maltreatment." The roles of parent and child characteristics and processes are considered ("developmental context"), including an examination of intergenerational transmission. The "immediate interactional context" of maltreatment, which focuses on the parenting and parent-child interactional processes associated with abuse and neglect, is analyzed. Finally, the "broader context" is discussed with 3 specific subsections dealing with the community, cultural, and evolutionary contexts of child maltreatment. Implications for intervention are considered and future research directions are outlined.

  10. Major Depressive Disorder Definition, Etiology and Epidemiology: A Review

    Directory of Open Access Journals (Sweden)

    Fatmagul Helvaci Celik

    2016-03-01

    Full Text Available Depression is one of the most common psychiatric disorders influencing the all population. Untreated depression may lead to early death and worsening in general health. Depression has several clinically distinct subtypes which are sometimes difficult to diagnose. Diagnosis and treatment of these disorders are of concern to physicians other than psychiatrists, because of their effect on course and prognosis of general medical diseases. This is a concise and up to date overview of the epidemiology,etiology physiopathology and diagnosis of major depressive disorder. [J Contemp Med 2016; 6(1.000: 51-66

  11. Chronic meningitis in systemic lupus erythematosus: An unusual etiology

    Directory of Open Access Journals (Sweden)

    Anu Gupta

    2014-01-01

    Full Text Available Chronic aseptic meningitis is a rare manifestation of systemic lupus erythematosus (SLE. Apart from immunological causes and drugs, the aseptic meningitis group can include some unidentified viral infections that cannot be detected by routine microbiological testing. It is imperative to do complete cerebrospinal fluid (CSF workup before implicating the symptoms to disease activity or drugs, as untreated infections cause significant mortality in SLE. We present a case of young female with SLE who presented with chronic meningitis of an uncommon etiology.

  12. The Interaction between the Immune System and Epigenetics in the Etiology of Autism Spectrum Disorders.

    Science.gov (United States)

    Nardone, Stefano; Elliott, Evan

    2016-01-01

    Recent studies have firmly established that the etiology of autism includes both genetic and environmental components. However, we are only just beginning to elucidate the environmental factors that might be involved in the development of autism, as well as the molecular mechanisms through which they function. Mounting epidemiological and biological evidence suggest that prenatal factors that induce a more activated immune state in the mother are involved in the development of autism. In parallel, molecular studies have highlighted the role of epigenetics in brain development as a process susceptible to environmental influences and potentially causative of autism spectrum disorders (ASD). In this review, we will discuss converging evidence for a multidirectional interaction between immune system activation in the mother during pregnancy and epigenetic regulation in the brain of the fetus that may cooperate to produce an autistic phenotype. This interaction includes immune factor-induced changes in epigenetic signatures in the brain, dysregulation of epigenetic modifications specifically in genomic regions that encode immune functions, and aberrant epigenetic regulation of microglia. Overall, the interaction between immune system activation in the mother and the subsequent epigenetic dysregulation in the developing fetal brain may be a main consideration for the environmental factors that cause autism.

  13. The interaction between the immune system and epigenetics in the etiology of autism spectrum disorders

    Directory of Open Access Journals (Sweden)

    Stefano Nardone

    2016-07-01

    Full Text Available Recent studies have firmly established that the etiology of autism includes both genetic and environmental components. However, we are only just beginning to elucidate the environmental factors that might be involved in the development of autism, as well as the molecular mechanisms through which they function. Mounting epidemiological and biological evidence suggest that prenatal factors that induce a more activated immune state in the mother are involved in the development of autism. In parallel, molecular studies have highlighted the role of epigenetics in brain development as process susceptible to environmental influences and potentially causative of ASD. In this review, we will discuss converging evidence for a multidirectional interaction between immune system activation in the mother during pregnancy and epigenetic regulation in the brain of the fetus that may cooperate to produce an autistic phenotype. This interaction includes immune factor-induced changes in epigenetic signatures in the brain, dysregulation of epigenetic modifications specifically in genomic regions that encode immune functions, and aberrant epigenetic regulation of microglia. Overall, the interaction between immune system activation in the mother and the subsequent epigenetic dysregulation in the developing fetal brain may be a main consideration for the environmental factors that cause autism.

  14. Analysis of gene mutations in children with cholestasis of undefined etiology.

    Science.gov (United States)

    Matte, Ursula; Mourya, Reena; Miethke, Alexander; Liu, Cong; Kauffmann, Gregory; Moyer, Katie; Zhang, Kejian; Bezerra, Jorge A

    2010-10-01

    The discovery of genetic mutations in children with inherited syndromes of intrahepatic cholestasis allows for diagnostic specificity despite similar clinical phenotypes. Here, we aimed to determine whether mutation screening of target genes could assign a molecular diagnosis in children with idiopathic cholestasis. DNA samples were obtained from 51 subjects with cholestasis of undefined etiology and surveyed for mutations in the genes SERPINA1, JAG1, ATP8B1, ABCB11, and ABCB4 by a high-throughput gene chip. Then, the sequence readouts for all 5 genes were analyzed for mutations and correlated with clinical phenotypes. Healthy subjects served as controls. Sequence analysis of the genes identified 14 (or 27%) subjects with missense, nonsense, deletion, and splice site variants associated with disease phenotypes based on the type of mutation and/or biallelic involvement in the JAG1, ATP8B1, ABCB11, or ABCB4 genes. These patients had no syndromic features and could not be differentiated by biochemical markers or histopathology. Among the remaining subjects, 10 (or ∼20%) had sequence variants in ATP8B1 or ABCB11 that involved only 1 allele, 8 had variants not likely to be associated with disease phenotypes, and 19 had no variants that changed amino acid composition. Gene sequence analysis assigned a molecular diagnosis in 27% of subjects with idiopathic cholestasis based on the presence of variants likely to cause disease phenotypes.

  15. THE NATURE OF COMPREHENSION.

    Science.gov (United States)

    CLELAND, DONALD L.

    THE NATURE OF COMPREHENSION IS DEFINED AND CLARIFIED. THE LITERATURE IS SURVEYED TO SHOW THAT THE DEVELOPMENT OF CONCEPTS IS IMPORTANT IN INTELLECTUAL ACTIVITIES. IT IS POINTED OUT THAT CONCEPTS ARE BUILT FROM PERCEPTS, IMAGES, SENSATION, AND MEMORIES, AND THAT THE STEPS WHICH ARE EMPLOYED AS CONCEPTS ARE BUILT AND REFINED AND INCLUDE PERCEIVING,…

  16. Comprehension Strategy Gloves.

    Science.gov (United States)

    Newman, Gayle

    2002-01-01

    Describes the idea of creating a glove for each of the comprehension strategies for use with different text structures. Notes that the gloves serve as a multisensory approach by providing visual clues through icons on each finger and the palm. Discusses three different gloves: the prereading glove, the narrative text structure glove, and the…

  17. Painless reading comprehension

    CERN Document Server

    Jones, EdD, Darolyn "Lyn"

    2016-01-01

    Reading comprehension gets easier as students learn what kind of reader they are, discover how to keep facts in their head, and much more. Bonus Online Component: includes additional games, including Beat the Clock, a line match game, and a word scramble.

  18. Comprehensive Environmental Management Process

    International Nuclear Information System (INIS)

    Hjeresen, D.L.; Roybal, S.L.

    1994-01-01

    This report contains information about Los Alamos National Laboratory's Comprehensive Environmental Management Plan. The topics covered include: waste minimization, waste generation, environmental concerns, public relations of the laboratory, and how this plan will help to answer to the demands of the laboratory as their mission changes

  19. A comprehensive psychiatric service

    DEFF Research Database (Denmark)

    Wang, A G

    1984-01-01

    A comprehensive psychiatric service was established in 1969 in the Faroe Islands. This service was created as a department of a general hospital. The spheres covered by this department, operating in the midst of the community were: acute and chronic patients, a liaison-psychiatric service...

  20. Cognitive Correlates of Listening Comprehension

    Science.gov (United States)

    Kim, Young-Suk; Phillips, Beth

    2014-01-01

    In an effort to understand cognitive foundations of oral language comprehension (i.e., listening comprehension), we examined how inhibitory control, theory of mind, and comprehension monitoring are uniquely related to listening comprehension over and above vocabulary and age. A total of 156 children in kindergarten and first grade from…

  1. Etiological model of disordered eating behaviors in Brazilian adolescent girls.

    Science.gov (United States)

    Fortes, Leonardo de Sousa; Filgueiras, Juliana Fernandes; Oliveira, Fernanda da Costa; Almeida, Sebastião Sousa; Ferreira, Maria Elisa Caputo

    2016-01-01

    The objective was to construct an etiological model of disordered eating behaviors in Brazilian adolescent girls. A total of 1,358 adolescent girls from four cities participated. The study used psychometric scales to assess disordered eating behaviors, body dissatisfaction, media pressure, self-esteem, mood, depressive symptoms, and perfectionism. Weight, height, and skinfolds were measured to calculate body mass index (BMI) and percent body fat (%F). Structural equation modeling explained 76% of variance in disordered eating behaviors (F(9, 1,351) = 74.50; p = 0.001). The findings indicate that body dissatisfaction mediated the relationship between media pressures, self-esteem, mood, BMI, %F, and disordered eating behaviors (F(9, 1,351) = 59.89; p = 0.001). Although depressive symptoms were not related to body dissatisfaction, the model indicated a direct relationship with disordered eating behaviors (F(2, 1,356) = 23.98; p = 0.001). In conclusion, only perfectionism failed to fit the etiological model of disordered eating behaviors in Brazilian adolescent girls.

  2. Changes in leptospirosis etiology in animals and humans.

    Science.gov (United States)

    Vasylieva, Natalia; Andreychyn, Mykhaylo; Kravchuk, Yulia; Chervinska, Оlena; Iosyk, Iaryna

    2017-12-23

    Leptospirosis is endemic in Ternopil region. In Ukraine, the disease is registered in almost all regions, including the Ternopil region. The aim of the research is to study the regularities of epidemic and epizootic processes of leptospirosis, and the circulation of its pathogens among different sources (small mammals, animals) and humans. Etiologic spectrum of leptospirosis registered in Ternopil region in 1972-2016 among small mammals, farm animals and sick people was studied. Due to the analysis of pathogens circulation among different sources (small mammals, animals), as well as the annual morbidity in humans, it was proved that new leptospira serovars are endemic and brought into the regions mostly by farm animals. Farm animals introduce the infection to humans through the environment, sometimes within 3-5-years. The spread was observed of pathogen serovars, which are new in certain areas, among all types of mouse-like small mammals and rats. It was established that livestock and small mammals are parallel reservoirs. In the regions with endemic species, the structural modification in the etiology of leptospirosis in humans is caused by additional reservoirs among animals, as well as the circulation of other pathogen serovars that were absent in the main natural reservoir, i.e. mouse-like small mammals and rats. The constant monitoring of the population, contamination and carrier state of mouse-like small mammals, rats and farm animals, is required In order to predict the future epidemiological situation on leptospirosis among the population and to improve leptospirosis diagnosis.

  3. Infertility in Mazandaran province - north of Iran: an etiological study

    Directory of Open Access Journals (Sweden)

    Nadali Musanejad

    2011-01-01

    Full Text Available Background: The prevalence and etiology of infertility are not similar in different parts of the world. There are only few reports of this topic in Iran.Objective: This study was conducted to determine the clinical patterns and major causes of infertility in Mazandaran province in north of Iran.Materials and Methods: The medical records of 3734 consecutive couples attending two infertility clinics in Mazandaran province, from 2003 to 2008, were reviewed. The couples had not had a viable birth after at least 1 year of unprotected intercourse and were fully investigated.Results: Of the entire samples, 78.7% had primary infertility and 21.3% had secondary infertility. The mean duration of infertility in couples was 5.7±4 years. The etiology of infertility in couples revealed; male factor in 38.9%, female factor in 34.7%, combined factors in 14.6% and undetermined cause in 11.8%.Conclusion: In this study, delayed attendance of infertile couples to the infertility clinic was found. Therefore, there is a need to revise public health program on infertility to focus on the education and prevention of infertility and its risk factors.

  4. Clinical and etiological profile of refractory rickets from western India.

    Science.gov (United States)

    Joshi, Rajesh R; Patil, Shailesh; Rao, Sudha

    2013-07-01

    To present clinical and etiological profile of refractory rickets from Mumbai. Case records of 36 patients presenting over 2½ y with refractory rickets were evaluated with respect to clinical presentation, biochemical, radiological features and where needed, ophthalmological examination, ultrasonography and special tests on blood and urine. Twenty three (63 %) patients had renal tubular acidosis (RTA)-distal RTA in 20 and proximal RTA in 3 patients; 5 (14 %) had vitamin D dependent rickets (VDDR I in 2 and VDDR II in 3 patients), 4 (11 %) had chronic renal failure (CRF) and 2 each (6 %) had hypophosphatemic rickets and chronic liver disease as cause of refractory rickets. A significant proportion of patients with RTA and VDDR showed skeletal changes of rickets in the first 2 y of life, while those with hypophosphatemic rickets presented later. Patients with hypophosphatemic rickets had predominant involvement of lower limbs, normal blood calcium and PTH levels and phosphorus leak in urine. All patients with RTA presented with failure to thrive, polyuria and marked rickets; blood alkaline phosphatase levels being normal in almost 50 % patients. Three (75 %) patients with rickets due to CRF had GFR rickets inspite of taking high dose of vitamin D orally. Refractory rickets is a disorder of multiple etiologies; a good history and clinical examination supplemented with appropriate investigations helps to determine its cause.

  5. Influence of etiology of heart failure on the obesity paradox.

    Science.gov (United States)

    Arena, Ross; Myers, Jonathan; Abella, Joshua; Pinkstaff, Sherry; Brubaker, Peter; Moore, Brian; Kitzman, Dalane; Peberdy, Mary Ann; Bensimhon, Daniel; Chase, Paul; Forman, Daniel; West, Erin; Guazzi, Marco

    2009-10-15

    Several investigations have demonstrated that higher body weight, as assessed by the body mass index, is associated with improved prognosis in patients with heart failure (HF). The purpose of the present investigation was to assess the influence of HF etiology on the prognostic ability of the body mass index in a cohort undergoing cardiopulmonary exercise testing. A total of 1,160 subjects were included in the analysis. All subjects underwent cardiopulmonary exercise testing, at which the minute ventilation/carbon dioxide production slope and peak oxygen consumption were determined. In the overall group, 193 cardiac deaths occurred during a mean follow-up of 30.7 +/- 25.6 months (annual event rate 6.0%). The subjects classified as obese consistently had improved survival compared to those classified as normal weight (overall survival rate 88.0% vs or=43.4, p value (residual chi-square >or=4.7, p value during the cardiopulmonary exercise testing assessment. However, survival appears to differ according to HF etiology in subjects classified as overweight.

  6. Etiology and mechanisms of ulnar and median forearm nerve injuries

    Directory of Open Access Journals (Sweden)

    Puzović Vladimir

    2015-01-01

    Full Text Available Bacgraund/Aim. Most often injuries of brachial plexus and its branches disable the injured from using their arms and/or hands. The aim of this study was to investigate the etiology and mechanisms of median and ulnar forearm nerves injuries. Methods. This retrospective cohort study included 99 patients surgically treated in the Clinic of Neurosurgery, Clinical Center of Serbia, from January 1st, 2000 to December 31st, 2010. All data are obtained from the patients' histories. Results. The majority of the injured patients were male, 81 (81.8%, while only 18 (18.2% were females, both mainly with nerve injuries of the distal forearm - 75 (75.6%. Two injury mechanisms were present, transection in 85 patients and traction and contusion in 14 of the patients. The most frequent etiological factor of nerve injuries was cutting, in 61 of the patients. Nerve injuries are often associated with other injuries. In the studied patients there were 22 vascular injuries, 33 muscle and tendon injuries and 20 bone fractures. Conclusion. The majority of those patients with peripheral nerve injuries are represented in the working age population, which is a major socioeconomic problem. In our study 66 out of 99 patients were between 17 and 40 years old, in the most productive age. The fact that the majority of patients had nerve injuries of the distal forearm and that they are operated within the first 6 months after injury, promises them good functional prognosis.

  7. An Etiologic Profile of Anemia in 405 Geriatric Patients

    Directory of Open Access Journals (Sweden)

    Tabea Geisel

    2014-01-01

    Full Text Available Background. Anemia is a common condition in the elderly and a significant risk factor for increased morbidity and mortality, reducing not only functional capacity and mobility but also quality of life. Currently, few data are available regarding anemia in hospitalized geriatric patients. Our retrospective study investigated epidemiology and causes of anemia in 405 hospitalized geriatric patients. Methods. Data analysis was performed using laboratory parameters determined during routine hospital admission procedures (hemoglobin, ferritin, transferrin saturation, C-reactive protein, vitamin B12, folic acid, and creatinine in addition to medical history and demographics. Results. Anemia affected approximately two-thirds of subjects. Of 386 patients with recorded hemoglobin values, 66.3% were anemic according to WHO criteria, mostly (85.1% in a mild form. Anemia was primarily due to iron deficiency (65%, frequently due to underlying chronic infection (62.1%, or of mixed etiology involving a combination of chronic disease and iron deficiency, with absolute iron deficiency playing a comparatively minor role. Conclusion. Greater awareness of anemia in the elderly is warranted due to its high prevalence and negative effect on outcomes, hospitalization duration, and mortality. Geriatric patients should be routinely screened for anemia and etiological causes of anemia individually assessed to allow timely initiation of appropriate therapy.

  8. Role of psychosocial factors in the etiology of bruxism.

    Science.gov (United States)

    Manfredini, Daniele; Lobbezoo, Frank

    2009-01-01

    To summarize literature data about the role of psychosocial factors in the etiology of bruxism. A systematic search in the National Library of Medicine's PubMed Database was performed to identify all peer-reviewed papers in the English literature dealing with the bruxism-psychosocial factors relationship. All studies assessing the psychosocial traits of bruxers (by using questionnaires, interviews, and instrumental and laboratory exams) and reviews discussing the contribution of those factors to the etiology of bruxism were included in this review. A total of 45 relevant papers (including eight reviews) were retrieved with a search strategy combining the term "bruxism" with the words stress, anxiety, depression, psychosocial and psychological factors. The majority of data about the association between psychosocial disorders and bruxism came from studies adopting a clinical and/or self-report diagnosis of bruxism. These studies showed some association of bruxism with anxiety, stress sensitivity, depression and other personological characteristics, apparently in contrast with sleep laboratory investigations. A plausible hypothesis is that clinical studies are more suitable to detect awake bruxism (clenching type), while polysomnographic studies focused only on sleep bruxism (grinding type). Wake clenching seems to be associated with psychosocial factors and a number of psychopathological symptoms, while there is no evidence to relate sleep bruxism with psychosocial disorders. Future research should be directed toward the achievement of a better distinction between the two forms of bruxism in order to facilitate the design of experimental studies on this topic.

  9. Nontraumatic spontaneous rupture of the kidney : etiology and CT findings

    International Nuclear Information System (INIS)

    Heo, Tae Haeng; Jeon, Hae Jeong; Shin, Hyun Joon; Kim, Bo Hyun; Cho, Kyoung Sik; Kim, Young Hwa; Kim, Seung Hyup; Park, Churl Min

    1997-01-01

    To evaluate the usefulness of CT scanning in determining the etiology of spontaneous rupture of the kidney We retrospectively analyzed the CT findings of spontaneous rupture of the kidney in eleven patients, Four were male and seven were female, and they were aged between 20 and 71 (mean, 46.6) years. Both pre- and post-contrast enhanced CT scanning was performed in all patients. Spontaneous renal rupture was induced in seven cases by neoplasms (three angiomyolipomas, three renal cell carcinomas, and one metastatic choriocarcinoma), in three cases by infection or inflammation (acute and chronic pyelonephritis, and renal abscess), and in one, by renal cyst. Common CT findings of rupture of the kidney were the accumulation of high density fluid in the perirenal and anterior pararenal space, and inhomogeneous irregular low density of renal parenchyma and the rupture site. Angiomyolipoma showed fat and an angiomatous component in the lesion, while acute and chronic pyelonephrities revealed thinning of the renal parenchyma and an irregular renal outline. Renal cell carcinoma showed a dense soft tissue mass in the parenchyma. Well-defined, round low-density lesions were noted in the case of renal cyst and renal abscess. CT is very useful in diagnosing and determining the etiology of non-traumatic spontaneous rupture of the kidney and plays an important role in the evaluation of emergency cases

  10. Romantic Relationship Satisfaction Moderates the Etiology of Adult Personality

    Science.gov (United States)

    South, Susan C.; Krueger, Robert F.; Elkins, Irene; Iacono, William G.; McGue, Matt

    2015-01-01

    The heritability of major normative domains of personality is well-established, with approximately half the proportion of variance attributed to genetic differences. In the current study, we examine the possibility of gene x environment interaction (GxE) for adult personality using the environmental context of intimate romantic relationship functioning. Personality and relationship satisfaction are significantly correlated phenotypically, but to date no research has examined how the genetic and environmental components of variance for personality differ as a function of romantic relationship satisfaction. Given the importance of personality for myriad outcomes from work productivity to psychopathology, it is vital to identify variables present in adulthood that may affect the etiology of personality. In the current study, quantitative models of GxE were used to determine whether the genetic and environmental influences on personality differ as a function of relationship satisfaction. We drew from a sample of now-adult twins followed longitudinally from adolescence through age 29. All participants completed the Multidimensional Personality Questionnaire (MPQ) and an abbreviated version of the Dyadic Adjustment Scale (DAS). Biometric moderation was found for eight of the eleven MPQ scales examined: Well-Being, Social Potency, Negative Emotionality, Alienation, Aggression, Constraint, Traditionalism, and Absorption. The pattern of findings differed, suggesting that the ways in which relationship quality moderates the etiology of personality may depend on the personality trait. PMID:26581694

  11. Tics and Tourette: a clinical, pathophysiological and etiological review.

    Science.gov (United States)

    Dale, Russell C

    2017-12-01

    Describe developments in the etiological understanding of Tourette syndrome. Tourette syndrome is a complex heterogenous clinical syndrome, which is not a unitary entity. Pathophysiological models describe gamma-aminobutyric acid-ergic-associated disinhibition of cortico-basal ganglia motor, sensory and limbic loops. MRI studies support basal ganglia volume loss, with additional white matter and cerebellar changes. Tourette syndrome cause likely involves multiple vulnerability genes and environmental factors. Only recently have some vulnerability gene findings been replicated, including histidine decarboxylase and neurexin 1, yet these rare variants only explain a small proportion of patients. Planned large genetic studies will improve genetic understanding. The role of inflammation as a contributor to disease expression is now supported by large epidemiological studies showing an association with maternal autoimmunity and childhood infection. Investigation of blood cytokines, blood mRNA and brain mRNA expression support the role of a persistent immune activation, and there are similarities with the immune literature of autistic spectrum disorder. Current treatment is symptomatic, although there is a better appreciation of factors that influence treatment response. At present, therapeutics is focused on symptom-based treatments, yet with improved etiological understanding, we will move toward disease-modifying therapies in the future.

  12. Clinical features and etiology of retinal vasculitis in Northern Thailand

    Directory of Open Access Journals (Sweden)

    Supanut Apinyawasisuk

    2013-01-01

    Full Text Available Purpose: To report on the clinical features and etiology of patients with retinal vasculitis (RV. Materials and Methods: We reviewed medical records of 47 patients (75 affected eyes diagnosed with RV. Clinical presentations, ocular complications, associated systemic diseases, and treatment regimens were registered. Results: Etiology of RV included infectious causes in 10/47, (21% while an association with systemic and/or ocular non-infectious disorders was noted in 22/47 (47%. Eales′ disease and Behcet′s disease represented the most common clinical entities in non-infectious group while tuberculosis-associated RV was diagnosed in 6/10 (60% among those with infectious disorders. RV was bilateral in 28/47 (60% patients. Retinal veins were most commonly affected (72%, 34/47. Involvement of arteries was present in 12/47 (25% and was associated with viral infections and Behcet′s disease. Ocular complications developed in 60/75 (80% eyes. The most common complications were elevated intraocular pressure and/or glaucoma (33/75, 44%. Retinal detachment, vitreous hemorrhage, and cystoid macular edema developed in similar percentages (15%. Conclusions: RV in Thailand manifested mostly in male patients, was typically bilateral and involved mostly veins. Involvement of arteries was observed in patients with viral infections and Behcet′s disease. Tuberculosis was the most common infectious cause.

  13. Acute symptomatic neonatal seizures in preterm neonates: etiologies and treatments.

    Science.gov (United States)

    Pisani, Francesco; Spagnoli, Carlotta

    2017-12-15

    Acute symptomatic neonatal seizures in preterm newborns are a relevant clinical challenge due to the presence of many knowledge gaps. Etiology-wise, acute symptomatic seizures have an age-specific epidemiology, with intraventricular hemorrhage and its complications representing the first cause in extremely and very preterm neonates, whereas other etiologies have similar occurrence rates as in full-term infants. Specific treatment strategies for the premature neonates are not yet available. Studies suggest a similarly low response rate with even more unfavorable prognosis than in full-term infants. Pharmacodynamic and pharmacokinetic changes are likely under way during the preterm period, with the potential to affect both effectiveness and safety of antiepileptic drugs in these patients. However, due to the lack of clear evidence to guide prioritization of second-line drugs, off-label medications are frequently indicated by review papers and flow-charts, and are prescribed in clinical practice. We therefore conclude by exploring potential future lines of research. Copyright © 2017 Elsevier Ltd. All rights reserved.

  14. Epiglottic cyst as an etiological factor of globus sensation.

    Science.gov (United States)

    Polat, Bahtiyar; Karahatay, Serdar; Gerek, Mustafa

    2015-09-01

    Globus is a subjective complaint that describes a sensation of a lump or a foreign body in the throat. Despite being a well-known and common clinical condition, the etiological factors have not been definitely elucidated yet. The study was set up to ascertain the relationship between epiglottic cysts and globus sensation. All patients undergoing investigation and treatments for globus sensation were included in the study. Patients with epiglottic cysts but no other possible causes of globus sensation were constituted the series of patients. Patients were asked to assess the levels of complaint before and after the carbon dioxide (CO2) laser excisions of the cysts. Epiglottic cysts were found in 10 (5.4%) of the 182 patients. Three of these 10 patients who had concomitant diseases or conditions that may cause globus sensation and one patient who refused the surgery were excluded from the study. All the remaining six patients reported relief of the globus sensation after the CO2 laser excisions of the cysts. Our results, obtained from this limited series, indicated that epiglottic cysts may be considered as one of the etiological factors of globus sensation.

  15. Airway-centered interstitial fibrosis: etiology, clinical findings and prognosis.

    Science.gov (United States)

    Kuranishi, Lilian Tiemi; Leslie, Kevin O; Ferreira, Rimarcs Gomes; Coletta, Ester Aparecida Ney; Storrer, Karin Mueller; Soares, Maria Raquel; de Castro Pereira, Carlos Alberto

    2015-05-09

    Airway-centered Interstitial Fibrosis (ACIF) is a common pathologic pattern observed in our practice. The objectives of this study are to describe the causes associated with ACIF in a large sample of patients and its effect on survival. A retrospective study in three centers of interstitial lung disease in São Paulo, between January of 1995 and December of 2012. The surgical lung biopsy specimens were reviewed by three pathologists. The clinical, functional and tomographic findings were analyzed by a standardized protocol. There were 68 cases of ACIF, most of them women. The mean age was 57 ± 12 yr. Dyspnea, cough, restrictive pattern at spirometry and oxygen desaturation at exercise were common. A reticular pattern with peribronchovascular infiltrates was found in 79% of the cases. The etiologies of ACIF were hypersensitivity pneumonitis in 29 (42.6%), gastroesophageal reflux disease in 17 (25.0%), collagen vascular disease in 4 (5.9%), a combination of them in 15 cases and idiopathic in 3 (4.4%). The median survival was 116 months (95% CI = 58.5 - 173.5). Lower values of oxygen saturation at rest, presence of cough and some histological findings--organizing tissue in the airways, fibroblastic foci and microscopic honeycombing--were predictors of worse survival. ACIF is an interstitial lung disease with a better survival when compared with IPF. The main etiologies are HP and GERD. The oxygen saturation at rest, the presence of cough and some histological findings are predictors of survival.

  16. Sarcomas: etiología y síntomas

    Directory of Open Access Journals (Sweden)

    Roberto Gabriel Albín Cano

    2012-05-01

    Full Text Available Debido a la amplia diversidad de sarcomas, casi son inexistentes los textos que incluyen todas las variedades de este tipo de cáncer. Generalmente, su descripción y revisión se incluyen en las del sistema de órganos afectados específicamente, y la literatura que los aborda está muy fragmentada en las diferentes especialidades médicas. Se realiza una revisión bibliográfica sobre la etiología y síntomas de la mayor parte de los diferentes tipos de sarcomas. Es objetivo de esta revisión, lograr unir la información más actual disponible acerca de la etiología y síntomas de los sarcomas. Se han identificado diferentes factores de riesgo y factores etiológicos, tanto genéticos, infecciosos, como ambientales. Los grandes descubrimientos en relación con los mecanismos genéticos involucrados en los diferentes tipos de sarcoma, han abierto un camino de inestimable valor para introducir nuevos tratamientos, que incluyen ensayos con anticuerpos monoclonales y nuevos fármacos de terapia génica.

  17. Etiology of epilepsy a prospective study of 210 cases

    Directory of Open Access Journals (Sweden)

    Walter Oleschko Arruda

    1991-09-01

    Full Text Available The objective of this study was to establish the etiology of epilepsy in 210 chronic epileptics (110 female, 100 male, aged 14-82 years (34.2±13.3. Patients less than 10 years-old and alcoholism were excluded. All underwent neurological examination, routine blood tests, EEG and CT-scan. Twenty patients (10.5% were submitted to spinal tap for CSF examination. Neurological examination was abnormal in 26 (12.4%, the EEG in 68 (45.5%, and CT-scan in 93 (44.3%. According to the International Classification of Epileptic Seizures (1981, 101 (48.1% have generalized seizures, 66 (31.4% partial seizures secondarily generalized, 25 (11.8% simple partial and complex partial seizures, and 14 (6.6% generalized and partial seizures. Four patients (2.0% could not be classified. In 125 (59.5% patients the etiology was unknown. Neurocysticercosis accounted for 57 (27.1% of cases, followed by cerebrovascular disease 8 (3.8%, perinatal damage 5 (2.4%, familial epilepsy 4 (1.9%, head injury 4 (1.9%, infective 1 (0.5%, and miscelanea 6 (2.8%.

  18. Current Diagnosis, Treatment and Etiology of Status Epilepticus

    Directory of Open Access Journals (Sweden)

    Çetin Kürşad Akpınar

    2014-03-01

    Full Text Available Status Epilepticus (SE is a medical emergency that causes significant morbidity and mortality and requires prompt diagnosis and treatment. Although SE can be divided into two subgroups as convulsive and nonconvulsive, treatment principles are generally similar. Treatment should be prompt and underlying cause should be corrected. Although intravenous lorazepam is the first-line treatment due to a lower risk of relapse, diazepam becomes the first choice since loeazepan is not available in our country. Even though intravenous benzodiazepine stops seizures, intravenous antiepileptic drug (phenytoin, etc. should be administered at a loading dose. Patients with refractory status epilepticus should be supported with respect to vital, respiratory, metabolic and hemodynamic aspects and followed up in an intensive care unit to monitor cerebral electrical activity. The most common cause in the etiology is the cessation of antiepileptic drugs. The aim of SE treatment is to stop seizures and prevent complications and recurrence. In this paper, current diagnosis, treatment and etiology of SE are reviewed.

  19. Functional dyspepsia in adolescents: particulars of its etiology, premorbid background, and a comprehensive treatment approach

    Directory of Open Access Journals (Sweden)

    D. V. Pechkurov

    2017-01-01

    Full Text Available The adolescence is characterized by high rates of gastroenterological morbidity due to physiological characteristics of the body and social and psychological status of the teenager. Dyspepsia takes the leading position in the structure of functional pathology. Studies have shown the role of family, unhealthy habits and addictions in the development of this disorder. One should also bear in mind that the adolescence is characterized by an increase in organic pathology. There is a  close association of the functional dyspepsia and the premorbid background, such as autonomous dysfunction and vertebral abnormalities. The use of cholinolytics, prokinetics, opioid receptor antagonists, antacids and anti-secretory agents seems rational for treatment of dyspepsia. If the above mentioned groups of agents lack efficacy, the second line therapy is proposed, which includes tricyclic antidepressants.

  20. Trans-Vaginal Mesh Revision: A Comprehensive Review on Etiologies and Management Strategies with Emphasis on Postoperative Pain Outcomes.

    Science.gov (United States)

    Mock, Stephen; Reynolds, William S; Dmochowski, Roger R

    2014-05-01

    The use of polypropylene mesh to augment surgery aimed to correct pelvic organ prolapse and stress urinary incontinence stems largely from the high recurrence rates of native tissue repairs. While objective outcomes were improved, mesh related complications began to emerge that included mesh exposures, extrusions, dyspareunia and other pain issues. However, the indication for and benefit of surgical intervention(s) to address these complications are lacking. We aim to review to current literature regarding postoperative pain outcomes following vaginal mesh revision. Evidence based literature indicates that mesh complications are not rare and surgery that aims to address them generally have an overall benefit. However, studies available are generally small case series of a retrospective nature with short follow up. Some themes are evident: there is a long lag period from mesh insertion to removal; there is a lack of a true denominator of total mesh insertions making it hard to gauge the real scope of the problem; mesh material found not along the expected trocar path or coursing close to neurovascular structures thus raises the possibility of technical errors during insertion. Transvaginal mesh revision(s) for mesh complications generally have a positive effect on pain outcomes, but better controlled studies are needed. Additionally, since technical issues may be a factor in the development of mesh complications, rigorous training and sufficient surgical case volume should be emphasized. © 2014 Wiley Publishing Asia Pty Ltd.

  1. Investigation and identification of etiologies involved in the development of acquired hydronephrosis in aged laboratory mice with the use of high-frequency ultrasound imaging

    Science.gov (United States)

    Springer, Danielle A.; Allen, Michele; Hoffman, Victoria; Brinster, Lauren; Starost, Matthew F.; Bryant, Mark; Eckhaus, Michael

    2014-01-01

    Laboratory mice develop naturally occurring lesions that affect biomedical research. Hydronephrosis is a recognized pathologic abnormality of the mouse kidney. Acquired hydronephrosis can affect any mouse, as it is caused by any naturally occurring disease that impairs free urine flow. Many etiologies leading to this condition are of particular significance to aging mice. Non-invasive ultrasound imaging detects renal pelvic dilation, renal enlargement, and parenchymal loss for pre-mortem identification of this condition. High-frequency ultrasound transducers produce high-resolution images of small structures, ideal for detecting organ pathology in mice. Using a 40 MHz linear array transducer, we obtained high-resolution images of a diversity of pathologic lesions occurring within the abdomen of seven geriatric mice with acquired hydronephrosis that enabled a determination of the underlying etiology. Etiologies diagnosed from the imaging results include pyelonephritis, neoplasia, urolithiasis, mouse urologic syndrome, and spontaneous hydronephrosis, and were confirmed at necropsy. A retrospective review of abdominal scans from an additional 149 aging mice shows that the most common etiologies associated with acquired hydronephrosis are mouse urologic syndrome and abdominal neoplasia. This report highlights the utility of high-frequency ultrasound for surveying research mice for age-related pathology, and is the first comprehensive report of multiple cases of acquired hydronephrosis in mice. PMID:25143818

  2. Exome sequencing in Jewish and Arab patients with rhabdomyolysis reveals single-gene etiology in 43% of cases.

    Science.gov (United States)

    Vivante, Asaf; Ityel, Hadas; Pode-Shakked, Ben; Chen, Jing; Shril, Shirlee; van der Ven, Amelie T; Mann, Nina; Schmidt, Johanna Magdalena; Segel, Reeval; Aran, Adi; Zeharia, Avraham; Staretz-Chacham, Orna; Bar-Yosef, Omer; Raas-Rothschild, Annick; Landau, Yuval E; Lifton, Richard P; Anikster, Yair; Hildebrandt, Friedhelm

    2017-12-01

    Rhabdomyolysis is a clinical emergency that may cause acute kidney injury (AKI). It can be acquired or due to monogenic mutations. Around 60 different rare monogenic forms of rhabdomyolysis have been reported to date. In the clinical setting, identifying the underlying molecular diagnosis is challenging due to nonspecific presentation, the high number of causative genes, and current lack of data on the prevalence of monogenic forms. We employed whole exome sequencing (WES) to reveal the percentage of rhabdomyolysis cases explained by single-gene (monogenic) mutations in one of 58 candidate genes. We investigated a cohort of 21 unrelated families with rhabdomyolysis, in whom no underlying etiology had been previously established. Using WES, we identified causative mutations in candidate genes in nine of the 21 families (43%). We detected disease-causing mutations in eight of 58 candidate genes, grouped into the following categories: (1) disorders of fatty acid metabolism (CPT2), (2) disorders of glycogen metabolism (PFKM and PGAM2), (3) disorders of abnormal skeletal muscle relaxation and contraction (CACNA1S, MYH3, RYR1 and SCN4A), and (4) disorders of purine metabolism (AHCY). Our findings demonstrate a very high detection rate for monogenic etiologies using WES and reveal broad genetic heterogeneity for rhabdomyolysis. These results highlight the importance of molecular genetic diagnostics for establishing an etiologic diagnosis. Because these patients are at risk for recurrent episodes of rhabdomyolysis and subsequent risk for AKI, WES allows adequate prophylaxis and treatment for these patients and their family members and enables a personalized medicine approach.

  3. Etiologic effects and optimal intakes of foods and nutrients for risk of cardiovascular diseases and diabetes: Systematic reviews and meta-analyses from the Nutrition and Chronic Diseases Expert Group (NutriCoDE.

    Directory of Open Access Journals (Sweden)

    Renata Micha

    Full Text Available Dietary habits are major contributors to coronary heart disease, stroke, and diabetes. However, comprehensive evaluation of etiologic effects of dietary factors on cardiometabolic outcomes, their quantitative effects, and corresponding optimal intakes are not well-established.To systematically review the evidence for effects of dietary factors on cardiometabolic diseases, including comprehensively assess evidence for causality; estimate magnitudes of etiologic effects; evaluate heterogeneity and potential for bias in these etiologic effects; and determine optimal population intake levels.We utilized Bradford-Hill criteria to assess probable or convincing evidence for causal effects of multiple diet-cardiometabolic disease relationships. Etiologic effects were quantified from published or de novo meta-analyses of prospective studies or randomized clinical trials, incorporating standardized units, dose-response estimates, and heterogeneity by age and other characteristics. Potential for bias was assessed in validity analyses. Optimal intakes were determined by levels associated with lowest disease risk.We identified 10 foods and 7 nutrients with evidence for causal cardiometabolic effects, including protective effects of fruits, vegetables, beans/legumes, nuts/seeds, whole grains, fish, yogurt, fiber, seafood omega-3s, polyunsaturated fats, and potassium; and harms of unprocessed red meats, processed meats, sugar-sweetened beverages, glycemic load, trans-fats, and sodium. Proportional etiologic effects declined with age, but did not generally vary by sex. Established optimal population intakes were generally consistent with observed national intakes and major dietary guidelines. In validity analyses, the identified effects of individual dietary components were similar to quantified effects of dietary patterns on cardiovascular risk factors and hard endpoints.These novel findings provide a comprehensive summary of causal evidence, quantitative

  4. Identifying molecular targets of lifestyle modifications in colon cancer prevention

    Directory of Open Access Journals (Sweden)

    Molly Marie Derry

    2013-05-01

    Full Text Available One in four deaths in the United States is cancer-related, and colorectal cancer (CRC is the second leading cause of cancer-associated deaths. Screening strategies are utilized but have not reduced disease incidence or mortality. In this regard, there is an interest in cancer preventive strategies focusing on lifestyle intervention, where specific etiologic factors involved in cancer initiation, promotion, and progression could be targeted. For example, exposure to dietary carcinogens, such as nitrosamines and polycyclic aromatic hydrocarbons influences colon carcinogenesis. Furthermore, dietary deficiencies could alter sensitivity to genetic damage and influence carcinogen metabolism contributing to CRC. High alcohol consumption increases the risk of mutations including the fact that acetaldehyde, an ethanol metabolite, is classified as a group 1 carcinogen. Tobacco smoke exposure is also a risk factor for cancer development; ~20% of CRCs are associated with smoking. Additionally, obese patients have a higher risk of cancer development, which is further supported by the fact that physical activity decreases CRC risk by 55%. Similarly, chronic inflammatory conditions also increase the risk of CRC development. Moreover, the circadian clock alters digestion and regulates other biochemical, physiological and behavioral processes that could positively influence CRC. Taken together, colon carcinogenesis involves a number of etiological factors, and therefore, to create effective preventive strategies, molecular targets need to be identified and beleaguered prior to disease progression. With this in mind, the following is a comprehensive review identifying downstream target proteins of the above lifestyle risk factors, which are modulated during colon carcinogenesis and could be targeted for CRC prevention by novel agents including phytochemicals.

  5. Comprehensive hard materials

    CERN Document Server

    2014-01-01

    Comprehensive Hard Materials deals with the production, uses and properties of the carbides, nitrides and borides of these metals and those of titanium, as well as tools of ceramics, the superhard boron nitrides and diamond and related compounds. Articles include the technologies of powder production (including their precursor materials), milling, granulation, cold and hot compaction, sintering, hot isostatic pressing, hot-pressing, injection moulding, as well as on the coating technologies for refractory metals, hard metals and hard materials. The characterization, testing, quality assurance and applications are also covered. Comprehensive Hard Materials provides meaningful insights on materials at the leading edge of technology. It aids continued research and development of these materials and as such it is a critical information resource to academics and industry professionals facing the technological challenges of the future. Hard materials operate at the leading edge of technology, and continued res...

  6. [The role of neurovisualization methods in diagnosis and verification of vertigo etiology].

    Science.gov (United States)

    Alekseeva, N S; Krotenkova, M V; Konovalov, R N; Kirichenko, I M; Baev, A A; Petrova, E I

    2006-01-01

    Roentgen computed tomography (RCT) and MR-imaging (MRI) were used in investigation of vertigo etiology and affection of the cochleovestibular analyzer in 130 patients aged 28 to 74 years with recurrent systemic rotatory vertigo or its other symptoms. All the patients have undergone comprehensive otoneurological examination, RCT and MRI which showed that peripheral cochleovestibular syndromes (PCVS) caused by arterial hypertension (AH), atherosclerosis (AS), vascular dystonia (VD) are rarely characterized by focal alterations in the brain. PCVS comparison with blood flow in the vertebral arteries (VA) detected most frequently anomalies and asymmetries of the diameters. MR-angiography plays an important role in verification of pathology of intracranial VA. In central cochleovestibular syndrome (CCVS) with AH, AS, VD, principal pathological changes were registered in the brain trunk and cerebellum by MRI. Vestibulometry and otoneurological method detect not only vascular cochleovestibular peripheral and central syndromes but also to make differential diagnosis. RCT and MRI verify cochleovestibular syndromes in patients with multiple encephalomyelitis, VIII nerve neurinoma and tumors of the posterior cranial fossa.

  7. 501 reading comprehension questions

    CERN Document Server

    2014-01-01

    This updated edition offers the most extensive and varied practice for all types of questions students might face on standardized and in-class tests. With this guide, students will learn to develop expert reading strategies, understand how to read faster and with greater comprehension, overcome reading anxiety, and increase appreciation of reading for pleasure. This book's step-by-step approach provides graduated coverage that moves from the basics to more advanced reading.

  8. Comprehensive Analysis of the Incidence and Survival Patterns of Lung Cancer by Histologies, Including Rare Subtypes, in the Era of Molecular Medicine and Targeted Therapy: A Nation-Wide Cancer Registry-Based Study From Taiwan.

    Science.gov (United States)

    Chang, Jeffrey S; Chen, Li-Tzong; Shan, Yan-Shen; Lin, Sheng-Fung; Hsiao, Sheng-Yen; Tsai, Chia-Rung; Yu, Shu-Jung; Tsai, Hui-Jen

    2015-06-01

    Lung cancer is the third most common cancer in the world and has the highest cancer mortality rate. A worldwide increasing trend of lung adenocarcinoma has been noted. In addition, the identification of epidermal growth factor receptor (EGFR) mutations and the introduction of EGFR inhibitors to successfully treat EGFR mutated non-small cell lung cancers are breakthroughs for lung cancer treatment. The current study evaluated the incidence and survival of lung cancer using data collected by the Taiwan Cancer Registry between 1996 and 2008. The results showed that the most common histologic subtype of lung cancer was adenocarcinoma, followed by squamous cell carcinoma, small cell carcinoma, large cell carcinoma, neuroendocrine tumors, lymphoma, and sarcoma. Overall, the incidence of lung cancer in Taiwan increased significantly from 1996 to 2008. An increased incidence was observed for adenocarcinoma, particularly for women, with an annual percentage change of 5.9, whereas the incidence of squamous cell carcinoma decreased. Among the subtypes of lung cancer, the most rapid increase occurred in neuroendocrine tumors with an annual percentage change of 15.5. From 1996-1999 to 2005-2008, the 1-year survival of adenocarcinoma increased by 10% for men, whereas the 1-, 3-, and 5-year survivals of adenocarcinoma for women increased by 18%, 11%, and 5%, respectively. Overall, the incidence of lung cancer has been increasing in Taiwan, although the trends were variable by subtype. The introduction of targeted therapies was associated with a significantly improved survival for lung adenocarcinoma in Taiwan; however, more studies are needed to explain the rising incidence of lung adenocarcinoma. In addition, it is important to investigate the molecular pathogenesis of the various subtypes of lung cancer to develop novel therapeutic agents.

  9. Etiology of adverse prenatal Outcome in overweight women

    Directory of Open Access Journals (Sweden)

    Ameneh Safarzadeh

    2016-09-01

    Full Text Available To survey the etiology of adverse prenatal outcome in overweight. This comparative cohort study was conducted from 2010 to 2012. Total 440 gravid women 220were overweight and 220 normal weight pregnant women during at the first visit of pregnancy and third trimester were assessed. The risks for preterm labor, gestational hypertension, pre-eclampsia, gestational diabetes, caesarian section and Macrosomia were higher for those who were overweight at the third trimester of pregnancy (P < 0.05. Maternal BMI was associated with a higher risk for gestational hypertension, gestational diabetes, preterm labor, preeclampsia, caesarian section and fetal macrosomia (P< 0.05. This research demonstrates that maternal BMI was associated with increased risks for adverse pregnancy outcomes.

  10. Etiology, pathophysiology and classifications of the diabetic Charcot foot

    Science.gov (United States)

    Papanas, Nikolaos; Maltezos, Efstratios

    2013-01-01

    In people with diabetes mellitus, the Charcot foot is a specific manifestation of peripheral neuropathy that may involve autonomic neuropathy with high blood flow to the foot, leading to increased bone resorption. It may also involve peripheral somatic polyneuropathy with loss of protective sensation and high risk of unrecognized acute or chronic minor trauma. In both cases, there is excess local inflammatory response to foot injury, resulting in local osteoporosis. In the Charcot foot, the acute and chronic phases have been described. The former is characterized by local erythema, edema, and marked temperature elevation, while pain is not a prominent symptom. In the latter, signs of inflammation gradually recede and deformities may develop, increasing the risk of foot ulceration. The most common anatomical classification describes five patterns, according to the localization of bone and joint pathology. This review article aims to provide a brief overview of the diabetic Charcot foot in terms of etiology, pathophysiology, and classification. PMID:23705058

  11. Asthma and chemical hypersensitivity: prevalence, etiology, and age of onset.

    Science.gov (United States)

    Caress, S M; Steinemann, A C

    2009-02-01

    This study investigates asthma's national prevalence and potential overlap with chemical hypersensitivity. It also examines asthma's etiology, age of onset, and demographic characteristics. Data were collected from a geographically weighted random sample of the continental U.S. (1058 cases), in four seasonal cohorts (2005-2006). The study found that 12.9% of the sample report asthma, 11.6% report chemical hypersensitivity, and 31.4% of those with asthma report chemical hypersensitivity. Among asthmatics, 38% report irritation from scented products, 37.2% report health problems from air fresheners, and 13.6% report their asthma was caused by toxic exposure. Asthma cases affected each racial/ethic group in roughly the same proportion, with nearly 50% classified as childhood onset.

  12. [Recent achievements in the microbiological etiology of dental caries].

    Science.gov (United States)

    Jing, Chen; Lei, Cheng; Xuedong, Zhou; Xian, Peng

    2018-02-01

    Dental caries is the most common chronic infectious disease of the oral cavity. The bacterium Streptococcus mutans is the sole pathogen that causes this disease. However, substantial evidence suggests that prevention and treatment strategies developed from traditional "cariogenic pathogen theory" are inefficient in reducing the prevalence of dental caries. An increasing number of individuals adopt the ecological view of the microbiota in the pathogenesis of dental caries. Recent technological improvements have enabled the detection and analysis of oral microorganisms, and many studies have focused on this area. The core microbiota is defined as a cluster of microbes playing critical roles in the initial and development phases of dental caries and may provide future direction for microorganism-related etiological studies.

  13. Historical perspectives on theories of periodontal disease etiology

    DEFF Research Database (Denmark)

    Hujoel, Philippe; Zina, Lívia Guimarães; Cunha-Cruz, Joana

    2012-01-01

    Our understanding of the causes of periodontal disease have changed greatly over time. The aim of this review is to provide a critical and historical perspective, dating back over more than a century, on two competing paradigms. While we understand that this stark dichotomization may be viewed...... as extreme, and is legitimately open to challenge, it is our hope that this didactic approach will serve to stimulate debate. The distinction made focuses on whether the primary etiology involves local causes, such as dental plaque, or involves remote causes, such as nutrition, tobacco use or other systemic...... factors. We provide a brief historical overview of the local and remote cause hypotheses and discuss some key reasons why the local cause hypothesis has become dominant....

  14. Etiology, diagnosis and treatment of renal colic during pregnancy.

    Science.gov (United States)

    Grasso, Angelica Anna Chiara; Cozzi, Gabriele

    2014-01-01

    To assess the incidence and causes of renal stones in pregnant women, investigate the reliability and accuracy of diagnostic investigations and to consider the various therapeutic options available. A review of the literature was conducted, searching for relevant papers on the physiology of urinary apparatus changes during pregnancy, as well as the etiology, diagnosis and management of renal colic in pregnant women. Standards of care in renal colic during pregnancy include accurate diagnosis primarily with ultrasound, or MRI if necessary, conservative therapy and careful surgical approach for urinary drainage in the first place or ureterorenoscopy when needed. Renal colic during pregnancy is potentially troublesome and likely to lead to serious adverse effects on both mother and fetus. A multi-disciplinary approach is needed, which includes experts in the fields of Urology, Obstetrics, Radiology and Anesthesiology, to ensure the optimal care of this delicate cohort of patients.

  15. ETIOLOGY CLASSIFICATION AND TREATMENT NEEDS (TN FOR ORAL MALODOR

    Directory of Open Access Journals (Sweden)

    Anton Raharjo

    2015-08-01

    Full Text Available Background: Oral malodor, a generic descriptor term for foul smells emanating from the mouth can be classified as either pathological or physiological halitosis. Some problems are often confounded by the clinician's mismanagement. Objective: This paper reviews the etiology of classification and determination of treatment needs (TN for oral malodor. Literature review and discussion: In the majority of cases the problem has been shown to originate in the oral cavity. Although oral malodor cases are often related to physiological aspects, sometimes they can be related to extra oral sources and psychological aspects. Classification methods of oral malodor with corresponding treatment needs (TN have already been established. Although PTC & tongue brushing and appropriate mouthrinses are both important and basic treatment measures for halitosis, other dental treatments are sometimes required. Conclusion: Accurate screening and diagnosis of halitosis followed by appropriate TN may give better results and consequently reduce the risk of mismanagement.

  16. Valvular Heart Disease in Cancer Patients: Etiology, Diagnosis, and Management.

    Science.gov (United States)

    Stewart, Merrill H; Jahangir, Eiman; Polin, Nichole M

    2017-07-01

    Cardiac valvular disease as consequence of radiation and chemotherapy during treatment for malignancy is growing in its awareness. While the overwhelming emphasis in this population has been on the monitoring and preservation of left ventricular systolic function, we are now developing a greater appreciation for the plethora of cardiac sequelae beyond this basic model. To this end many institutions across the country have developed cardio-oncology programs, which are collaborative practices between oncologists and cardiologists in order to minimize a patient's cardiovascular risk while allowing them to receive the necessary treatment for their cancer. These programs also help to recognize early nuanced treatment complications such as valvular heart disease, and provide consultation for the most appropriate course of action. In this article we will discuss the etiology, prevalence, diagnosis, and current treatment options of valvular heart disease as the result of chemotherapy and radiation.

  17. [Etiology and therapy in anorexia nervosa (author's transl)].

    Science.gov (United States)

    Wurst, E

    1976-01-01

    ASPERGER (1963) mentioned as a very important etiological aspect of anorexia nervosa a desintegration of intellectual and thymical functions causing the fact, that these patients are not able to accept the role of an adult, especially that one of a woman. We discuss that statment in connexion with ERIKSON'S (1974) concept about "ego-identity" ("Ich-Identitat") and "negative-identity" ("negative Identitat"). The pathological family-structure seems to reinforce the situation and the existence of inadequate behavior of patients with anorexia nervosa, who are often introverted and predestinated for conditioning. The therapy of these patients should focuse on the development of ego-identity, including the treatment of the family members, the modification of the inadapted behavior and a special endocrinological therapy.

  18. [Etiology of sleep bruxism: a review of the literature].

    Science.gov (United States)

    Cuccia, Antonino Marco

    2008-06-01

    Bruxism is a para-function with tooth clenching and grinding. Particularly, the sleep bruxism is a frequent phenomenon that causes cephalalgia and muscular/joint pains to the awakening, besides an increased dental abrasion and sensibility. The etiology of sleep bruxism is uncertain: while the occlusal discrepancies and the anatomy of the bony structures of the orofacial region play only a minor role, others factors, like smoking, alcohol, drugs, systemic diseases, stress, trauma and heredity, appear to have an important role in the sleep bruxism genesis. Recent polysomnographic studies, suggest that sleep bruxism episodes are part of an sleep arousal response. The sleep arousal response is a sudden change in the depth of sleep. Besides the sleep bruxism appears to be an disturbance in the dopaminergic system. Further psychological factors (like stress, anxiety) are implicated in the aetiology of sleep bruxism as well. The aim of this paper is to review the literature on the aetiology of bruxism.

  19. Halitosis: Current concepts on etiology, diagnosis and management

    Science.gov (United States)

    Kapoor, Uditi; Sharma, Gaurav; Juneja, Manish; Nagpal, Archna

    2016-01-01

    Halitosis or oral malodor is an offensive odor originating from the oral cavity, leading to anxiety and psychosocial embarrassment. A patient with halitosis is most likely to contact primary care practitioner for the diagnosis and management. With proper diagnosis, identification of the etiology and timely referrals certain steps are taken to create a successful individualized therapeutic approach for each patient seeking assistance. It is significant to highlight the necessity of an interdisciplinary method for the treatment of halitosis to prevent misdiagnosis or unnecessary treatment. The literature on halitosis, especially with randomized clinical trials, is scarce and additional studies are required. This article succinctly focuses on the development of a systematic flow of events to come to the best management of the halitosis from the primary care practitioner's point of view. PMID:27095913

  20. Nuclear imaging for the Cushing's syndrome etiological diagnosis

    International Nuclear Information System (INIS)

    Nocaudie, M.

    2000-01-01

    Etiologic diagnosing of a Cushing's syndrome relies upon the probabilities of the various causes of the pathologies. It takes advantage of the hormonal determinations to establish the mechanism of the hyper-secretion and of the radiological examination to detect morphological abnormalities. The scinti-scans are useful at this time only, to locate hyper-functioning tissue, to guide its resection and to suggest alternative option, either pharmaceutical or radio-metabolic. In the ACTH-independent Cushing's syndrome, noriodocholesterol scintigraphy can indicate that the adrenocortical hyper-functioning is unilateral or that it is bilateral. In the ACTH-dependent Cushing's syndrome, the current somatostatin radio-analogs have not proven their efficiency in pituitary ACTH-producing tumours but they are useful in the diagnosis and the management of bronchial carcinoids as of other neuro-endocrine tumors with the para-neoplastic Cushing's syndrome. (author)

  1. Giant scrotal elephantiasis of inflammatory etiology: a case report

    Science.gov (United States)

    Denzinger, Stefan; Watzlawek, Elke; Burger, Maximilian; Wieland, Wolf F; Otto, Wolfgang

    2007-01-01

    Background Scrotal lymphedema is rare outside endemic filariasis regions in Africa and Asia. It is of variable origin in the western world. Case presentation We present a case of a 40-year-old European man with massive elephantiasis of the scrotum attributed to chronic inflammation of the lower urinary tract caused by urinary outlet obstruction and diabetes mellitus. The patient underwent subtotal scrotectomy saving penis, testes and spermatic cords and followed by scrotal reconstruction with adequate cosmetic and functional outcome. Conclusion In this report we discuss a rare case of scrotal elephantiasis in an European patient, reflect on the etiology and the diagnostic and therapeutic approaches. Surgery can be successful even in giant scrotal elephantiasis. PMID:17543128

  2. Giant scrotal elephantiasis of inflammatory etiology: a case report

    Directory of Open Access Journals (Sweden)

    Denzinger Stefan

    2007-06-01

    Full Text Available Abstract Background Scrotal lymphedema is rare outside endemic filariasis regions in Africa and Asia. It is of variable origin in the western world. Case presentation We present a case of a 40-year-old European man with massive elephantiasis of the scrotum attributed to chronic inflammation of the lower urinary tract caused by urinary outlet obstruction and diabetes mellitus. The patient underwent subtotal scrotectomy saving penis, testes and spermatic cords and followed by scrotal reconstruction with adequate cosmetic and functional outcome. Conclusion In this report we discuss a rare case of scrotal elephantiasis in an European patient, reflect on the etiology and the diagnostic and therapeutic approaches. Surgery can be successful even in giant scrotal elephantiasis.

  3. Lifestyle and Sarcopenia—Etiology, Prevention, and Treatment

    Directory of Open Access Journals (Sweden)

    Oren Rom

    2012-10-01

    Full Text Available The term sarcopenia describes the loss of skeletal muscle mass, strength, and function in old age. As the world population continues to grow older, more attention is given to the phenomena of sarcopenia and the search for strategies of prevention and treatment. The progression of sarcopenia is affected by age-related physiological and systemic changes in the body, including alterations in skeletal muscle tissue, hormonal changes, increased inflammatory activities, and oxidative stress. Sarcopenia progression is also affected by lifestyle factors which are far more controllable. These factors include various aspects of nutrition, physical activity, exercise, alcohol intake, and tobacco use. Raising the public awareness regarding the impact of these factors, as causes of sarcopenia and potential strategies of prevention and treatment, is of great importance. In this review we aim to describe various lifestyle factors that affect the etiology, prevention, and treatment of sarcopenia.

  4. [Etiologies of cerebral palsy and classical treatment possibilities].

    Science.gov (United States)

    Maurer, Ute

    2002-01-01

    Cerebral palsy is a non-progressive disorder of the developing brain with different etiologies in the pre-, peri- or postnatal period. The most important of these diseases is cystic periventricular leukomalacia (PVL), followed by intra- and periventricular hemorrhage, hypoxic-ischemic encephalopathy, vascular disorders, infections or brain malformations. The underlying cause is always a damage of the first motor neuron. Prevalence of cerebral palsy in Europe is 2-3 per 1000 live births with a broad spectrum in different birth weight groups. Our own data concerning only pre-term infants in the NICU with birth weight below 1500 g (VLBW) are between 10%-20%. Established classical treatment methods include physiotherapy (Bobath, Vojta, Hippotherapy), methods of speech and occupational therapists (Castillo-Morales, Sensory Integration) and other therapeutical concepts (Petö, Affolter, Frostig).

  5. Genetics of infectious diseases: hidden etiologies and common pathways.

    Science.gov (United States)

    Orlova, Marianna; Di Pietrantonio, Tania; Schurr, Erwin

    2011-09-01

    Since the completion of the human genome sequence, the study of common genetic polymorphisms in complex human diseases has become a main activity of human genetics. Employing genome-wide association studies, hundreds of modest genetic risk factors have been identified. In infectious diseases the identification of common risk factors has been varied and as in other common diseases it seems likely that important genetic risk factors remain to be discovered. Nevertheless, the identification of disease-specific genetic risk factors revealed an unexpected overlap in susceptibility genes of diverse inflammatory and infectious diseases. Analysis of the multi-disease susceptibility genes has allowed the definition of shared key pathways of inflammatory dysregulation and suggested unexpected infectious etiologies for other "non-infectious" common diseases.

  6. A survey of etiologic hypotheses among testicular cancer researchers

    DEFF Research Database (Denmark)

    Stang, A; Trabert, B; Rusner, C

    2015-01-01

    Basic research results can provide new ideas and hypotheses to be examined in epidemiological studies. We conducted a survey among testicular cancer researchers on hypotheses concerning the etiology of this malignancy. All researchers on the mailing list of Copenhagen Testis Cancer Workshops...... and corresponding authors of PubMed-indexed articles identified by the search term 'testicular cancer' and published within 10 years (in total 2750 recipients) were invited to respond to an e-mail-based survey. Participants of the 8th Copenhagen Testis Cancer Workshop in May 2014 were subsequently asked to rate...... that scored as most plausible. We also present plans for improving the survey that may be repeated at a next international meeting of experts in testicular cancer. Overall 52 of 99 (53%) registered participants of the 8th Copenhagen Testis Cancer Workshop submitted the plausibility rating form. Fourteen of 27...

  7. Achalasia: A Review of Etiology, Pathophysiology, and Treatment

    Directory of Open Access Journals (Sweden)

    Nor Hedayanti

    2016-05-01

    Full Text Available Achalasia was a condition marked by peristaltic movement absent in lower esophageal sphincter and segment that hypertonic result in imperfect relaxation during food ingestion. Achalasia incidence did not differ between men and women, account for 1 in 100.000 people every year with prevalence of 10 in 100.000 people, unrelated specifically with ethnic, and has its highest incidence on 30-60 age group. Based on its etiology, it was divided into primary and secondary Achalasia, while based on its motility, it was into hypermotil, hypomotil, and amotil Achalasia. Until present, several therapeutic modalities were available to treat Achalasia, among them was pharmacology therapy, botulinum toxin injection via endoscopy, pneumatic dilatation, Heller myotomy surgery, and Per Oral Endoscopy Myotomy (POEM.

  8. An etiological model of disordered eating behaviors among Brazilian women.

    Science.gov (United States)

    de Carvalho, Pedro Henrique Berbert; Alvarenga, Marle Dos Santos; Ferreira, Maria Elisa Caputo

    2017-09-01

    The Tripartite Influence Model posits that parents, peers and media influences mediated by internalization and appearance social comparison are predictors of body dissatisfaction, a key risk factor for eating disorders. However, the Tripartite Influence Model has not been tested in Brazil where the people are known to have high levels of body image and appearance concerns. This study aimed to test an adapted Tripartite Influence Model of body dissatisfaction and disordered eating behaviors among Brazilian women. A sample of 741 undergraduate students (M age  = 23.55 years, SD = 4.09) completed measures of sociocultural influences, internalization of body ideal, social appearance comparison, body dissatisfaction, muscularity dissatisfaction, disordered eating and body change behaviors. Structural equation modeling analyses indicated that the proposed etiological model for Brazilian women has good fit indexes (χ 2 (2064) = 6793.232; p = 0.0001; χ 2 /gl = 3.29; CFI = 0.82; PCFI = 0.79; RMSEA = 0.056 [IC90% = 0.053-0.057]). Parent and media influences were related with both internalization and social comparison, while peer influence with social comparison. A full mediation model was found, with both internalization and social comparison contributing to body dissatisfaction. Finally, body dissatisfaction was associated with disordered eating behaviors. The findings inform the importance of considering cultural aspects that influence body image and eating behaviors, and highlight the validity of the proposed etiological model for Brazilian women, that can be used for research and clinical purposes. Copyright © 2017 Elsevier Ltd. All rights reserved.

  9. Etiología del colesteatoma ótico

    Directory of Open Access Journals (Sweden)

    Julianis Loraine Quintero Noa

    2011-12-01

    Full Text Available El colesteatoma es una estructura quística caracterizada por la presencia de epitelio escamoso productor de queratina, que sustituye o recubre la mucosa normal en la hendidura del oído medio y ápex petroso, y puede ser causa de hipoacusia irreversible, destrucción ósea y graves complicaciones por su crecimiento expansivo. Clásicamente se describen los colesteatomas en congénitos y adquiridos. La etiología de su formación es multifactorial y continúa siendo poco claro y controversial. Se reportan diferentes teorías que han tratado de explicar el colesteatoma congénito, la transición de un bolsillo de retracción hasta la aparición del colesteatoma adquirido primario, y otras en la génesis del colesteatoma adquirido secundario. Se describe la presencia de algunas citoquinas dentro del colesteatoma que inducen la hiperproliferación e invasión incoordinada de los queratinocitos de la piel del conducto auditivo externo y la pars fláccida, más agresiva en el colesteatoma adquirido pediátrico, y que desempeñan un papel fundamental en la proliferación y en la apoptosis del queratinocito. En cultivo in vitro de una muestra de tejido colesteatomatoso, se ha identificado recientemente que el TNF-a estimula la producción de la IL-8. Se considera de interés ofrecer esta revisión sobre la etiología del colesteatoma, que aún se mantiene en el campo de la investigación y continúa siendo un reto para los otocirujanos por su alta incidencia de recidivas y posibles complicaciones.

  10. Eosinophilic pleural effusion: incidence, etiology and prognostic significance.

    Science.gov (United States)

    Ferreiro, Lucía; San José, Esther; González-Barcala, Francisco Javier; Alvarez-Dobaño, José Manuel; Golpe, Antonio; Gude, Francisco; Anchorena, Christian; Pereyra, Marco F; Zamarrón, Carlos; Valdés, Luis

    2011-10-01

    Eosinophilic pleural effusion (EPE) has been associated with less risk for malignancy with a potential causal relationship with the presence of air and/or blood in the pleural space. However, these theories have fallen by the wayside in the light of recent publications. To determine the incidence and etiology of EPE and to observe whether the eosinophils in the pleural liquid (PL) increase in successive thoracocenteses. We analyzed 730 PL samples from 605 patients hospitalized between January 2004 and December 2010. We identified 55 samples with EPE from 50 patients (8.3%). The most frequent etiologies of EPE were: unknown (36%) and neoplasm (30%). There were no significant differences in the incidence of neoplasms between the non-eosinophilic pleural effusions (non-EPE) (25.9%) and the EPE (30%) (p=0.533). One hundred patients (16.5%) underwent a second thoracocentesis. Out of the 9 who had EPE in the first, 6 maintained EPE in the second. Out of the 91 with non-EPE in the first thoracocentesis, 8 (8.8%) had EPE in the repeat thoracocentesis. The percentage of eosinophils did not increase in the successive thoracocenteses (p=0.427). In the EPE, a significant correlation was found between the number of hematites and eosinophils in the PL (r=0.563; p=0.000). An EPE cannot be considered an indicator of benignancy, therefore it should be studied as any other pleural effusion. The number of eosinophils does not seem to increase with the of repetition of thoracocentesis and, lastly, the presence of blood in the PL could explain the existence of EPE. Copyright © 2011 SEPAR. Published by Elsevier Espana. All rights reserved.

  11. Etiology of Balkan endemic nephropathy: A multifactorial disease?

    International Nuclear Information System (INIS)

    Toncheva, Draga; Dimitrov, Tzvetan; Stojanova, Stiliana

    1998-01-01

    Balkan endemic nephropathy (BEN) is of great clinical importance in the restricted areas of Bulgaria, Rumania, Croatia, Serbia, Bosnia and Herzegovina. So far, studies on the etiological factors for BEN have not discovered any single environmental causative agent of this puzzling disease. These data reject the possibility of a purely environmental causation of BEN. The pattern of BEN transmission in the risk families is not typical for single gene disorders. Extensive epidemiological and genetic studies disclose characteristics of multifactorial (polygenic) inheritance of BEN. The evidences of 'familial tendency', variation of the risk for BEN depending on the number of sick parents and the degree of relatedness; the development of BEN in individuals from at-risk families who were born in non-endemic areas; the data that disease is not found in the gypsy population and the expressions of 3q25 cytogenetic marker suggest that the genetic factors play an important role as causative factors in BEN development. The possible impact of environmental triggers on individuals genetically predisposed to BEN could be supposed by the following data: the cytogenetic results of the increased frequency of folate sensitive Fra sites, spontaneous or radiation-induced aberrations in several bands in BEN patients, the data from the detailed analysis of breaks in BEN patients and controls that generate structural chromosome aberrations; the occurrence of BEN in immigrants. Genetical epidemiological approaches to etiology and prevention of BEN are proposed. The predisposing genes for BEN could be genes localized in a region between 3q25-3q26; transforming growth factor-β (TGF-β), genetic heterogeneity of xenobiotic-metabolizing enzymes; defects in the host's immune system. The predisposing genes for BEN patients with urinary tract tumors could be germline mutations in tumor suppressor genes and acquired somatic mutations in oncogenes

  12. Sudden sensorineural hearing loss in children: Etiology, management, and outcome.

    Science.gov (United States)

    Pitaro, Jacob; Bechor-Fellner, Avital; Gavriel, Haim; Marom, Tal; Eviatar, Ephraim

    2016-03-01

    Pediatric sudden sensorineural hearing loss (SSNHL) is uncommon, and the current guidelines for its management refer to adults. Our objective was to review cases of SSNHL in children and examine their etiologies, management, and outcome. We performed a retrospective chart review of all children under the age of 18 years treated for SSNHL between January 2003 and September 2014. Data recorded included age, gender, symptoms, onset of hearing loss, audiometric results, diagnostic studies, treatment, and outcome. Nineteen children were included. Mean age was 14 years (range 7-18 years). Male: female ratio was 9:10. Degree of hearing loss varied from mild to profound across the tested frequencies. Most common accompanying symptom was tinnitus. Serologic tests demonstrated recent Epstein-Barr virus infection in one patient and previous cytomegalovirus infection in six patients. Imaging studies included computed tomography scan (n=3) and/or magnetic resonance imaging (n=12). All imaging studies did not demonstrate any pathology. Treatment included systemic steroids in 19 (100%) children and intratympanic steroids in eight (42%). Hearing completely improved in three (16%) children, partially improved in nine (47%), and there was no improvement in six (32%). One child was lost to follow-up. Viral infection was a common finding in children with SSNHL and no pathological changes were demonstrated on imaging studies. In most patients (63%), hearing improvement was observed. Intratympanic steroid injection can benefit these children. Further studies are required to investigate the etiologies and establish guidelines for the management of SSNHL in children. Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.

  13. [The etiological aspects of acute abdominal pain in children].

    Science.gov (United States)

    Dinu, C A; Moraru, D

    2011-01-01

    The study of the etiological aspects of acute abdominal pain in children, in order to perceive the clinical-etiological correlations and the disorders distribution related to age, gender and the origin of the patients. The criteria for including patients were age (between 0 and 18 years) and the presence of acute abdominal pain before or during the consultation with the physician. The research on acute abdominal pain in children was performed on the level of the Surgery and Pediatrics II clinical departments of the "Sf. Ioan" Children's Emergency Clinical Hospital in Galati, between 01.01.2009 - 01.01.2011. The clinical study performed on the patients registered in the studied groups focused on the identification, the evaluation of the symptoms of acute abdominal pain in children, diagnosing and treating it. The criteria for excluding patients were an age older than 18 years or the absence of acute abdominal pain as a symptom before or during the examination. The statistical analysis used the descriptive and analytical methods. The data was centralized and statistically processed in M.S.EXCEL and S.P.S.S. databases. The patients with acute abdominal pain represent a percentage of 92.9% (2358 cases) of the total number of patients who suffer from abdominal pain (N=2537). The highest frequency of cases is represented by acute appendicitis (1056 cases - 44.8%). In the 5-18 years age group, acute appendicitis, mesenteric lymphadenitis, ovarian follicular cysts, acute pyelenophritis and salpingitis are predominant. In the 0-4 years age group gastroenteritis, acute pharyngitis, reactive hepatitis and lower digestive bleeding are predominant. In females, acute appendicitis, gastroenteritis, gastroduodenitis and cystitis are predominant, whereas in males, peritonitis, sepsis through E. coli, the contusion of the abdominal wall and acute pharyngitis are predominant.

  14. Etiology and Therapeutic Approach to Elevated Lactate Levels

    DEFF Research Database (Denmark)

    Wiuff Andersen, Lars; Mackenhauer, Julie; Roberts, Jonathan C

    2013-01-01

    on a comprehensive PubMed search between the dates of January 1, 1960, to April 30, 2013, using the search term lactate or lactic acidosis combined with known associations, such as shock, sepsis, cardiac arrest, trauma, seizure, ischemia, diabetic ketoacidosis, thiamine, malignancy, liver, toxins, overdose...

  15. Swine Flu -A Comprehensive View

    Science.gov (United States)

    Singh, Vandana; Sood, Meenakshi

    2012-07-01

    The present article is aimed on comprehensive view of Swine flu. It was first isolated from pigs in 1930 in USA. Pandemic caused by H1N1 in 2009 brought it in limelight. Itís a viral respiratory disease caused by viruses that infects pigs, resulting in nasal secretions, barking cough, decreased appetite, and listless behavior. Swine virus consist of eight RNA strands, one strand derived from human flu strains, two from avian (bird) strains, and five from swine strains. Swine flu spreads from infected person to healthy person by inhalation or ingestion of droplets contaminated with virus while sneezing or coughing. Two antiviral agents have been reported to help prevent or reduce the effects of swine flu, flu shot and nasal spray. WHO recommended for pandemic period to prevent its future outbreaks through vaccines or non-vaccines means. Antiviral drugs effective against this virus are Tamiflu and Relenza. Rapid antigen testing (RIDT), DFA testing, viral culture, and molecular testing (RT-PCR) are used for its diagnosis in laboratory

  16. Acute Spinal Subdural Hematoma after Vertebroplasty: A Case Report Emphasizing the Possible Etiologic Role of Venous Congestion.

    Science.gov (United States)

    Mattei, Tobias A; Rehman, Azeem A; Dinh, Dzung H

    2015-10-01

    Study Design Case report and literature review. Objective Spinal subdural hematomas are rare events that often progress with severe neurologic deficits. Although there have been several case reports in the literature of spontaneous spinal subdural hematomas in the setting of anticoagulation, antiplatelet therapy, or coagulation disorders, the exact pathophysiology of such phenomena remains obscure. Methods We present the first report of a subdural hematoma after a percutaneous vertebroplasty and provide a comprehensive review on the anatomy of venous drainage of the vertebral bodies with emphasis on the possible effects of venous congestion caused by cement obstruction. Results Because the subdural hematoma occurred in the absence of major cement extravasation to the spinal canal and two levels above the site of the vertebroplasty, we discuss the possible role of venous congestion as the main etiologic factor leading to rupture of the fragile, valveless radiculomedullary veins into the subdural space. Conclusions The reported case supports a possible new pathophysiological scheme for the development of spinal subdural hematoma in which venous congestion plays a pivotal etiologic role. The reported findings suggests that future anatomical and histologic studies investigating the response of the radiculomedullary veins to congestive venous hypertension may shed new light into the pathophysiology of spinal subdural hematomas.

  17. Does Closeness to Someone Who Is Gay, Lesbian, or Bisexual Influence Etiology Beliefs About Homosexuality?

    Science.gov (United States)

    Chonody, Jill M; Kavanagh, Phillip S; Woodford, Michael R

    2016-12-01

    Research suggests that contact with sexual minorities and etiology beliefs regarding the origins of homosexuality are associated with antigay bias; however, factors related to etiology beliefs have received little empirical attention. Our primary research question is: Does closeness to someone who is gay, lesbian, or bisexual influence etiology beliefs? Students (n = 851) from four U.S. universities completed an anonymous survey, and regression results indicated that contact and closeness were not significantly associated with etiology beliefs. Because both contact and relationship closeness were associated with antigay attitudes, and closeness demonstrated the largest effect, we tested three alternative structural equation models to determine if contact and closeness mediated etiology beliefs. Results suggested that contact and the degree of closeness are indirectly associated with students' etiology beliefs through antigay bias.

  18. Valency and molecular structure

    CERN Document Server

    Cartmell, E

    1977-01-01

    Valency and Molecular Structure, Fourth Edition provides a comprehensive historical background and experimental foundations of theories and methods relating to valency and molecular structures. In this edition, the chapter on Bohr theory has been removed while some sections, such as structures of crystalline solids, have been expanded. Details of structures have also been revised and extended using the best available values for bond lengths and bond angles. Recent developments are mostly noted in the chapter on complex compounds, while a new chapter has been added to serve as an introduction t

  19. A comprehensive French grammar

    CERN Document Server

    Price, Glanville

    2013-01-01

    Characterized by clear and accessible explanations, numerous examples and sample sentences, a new section on register and tone, and useful appendices covering topics including age and time, A Comprehensive French Grammar, Sixth Edition is an indispensable tool for advanced students of French language and literature.A revised edition of this established, bestselling French grammarIncludes a new section on register and medium and offers expanded treatment of French punctuationFeatures numerous examples and sample sentences, and useful appendices covering topics including age, time, and dimension

  20. Comprehensive multiplatform collaboration

    Science.gov (United States)

    Singh, Kundan; Wu, Xiaotao; Lennox, Jonathan; Schulzrinne, Henning G.

    2003-12-01

    We describe the architecture and implementation of our comprehensive multi-platform collaboration framework known as Columbia InterNet Extensible Multimedia Architecture (CINEMA). It provides a distributed architecture for collaboration using synchronous communications like multimedia conferencing, instant messaging, shared web-browsing, and asynchronous communications like discussion forums, shared files, voice and video mails. It allows seamless integration with various communication means like telephones, IP phones, web and electronic mail. In addition, it provides value-added services such as call handling based on location information and presence status. The paper discusses the media services needed for collaborative environment, the components provided by CINEMA and the interaction among those components.

  1. Acquired pneumonias in the community in adults: An etiologic prospective study with emphasis in the diagnosis

    International Nuclear Information System (INIS)

    Robledo, J; Sierra, P; Bedoya, F; Londono, A; Porras, A; Lujan, M; Correa, N; Mejia, GI; Realpe, T; Trujillo, H

    2003-01-01

    Is defined prospectively in adults the etiology of acquired pneumonia in the community (NAC) in three hospitals of the city of Medellin. The etiology of NAC in the studied group does not vary of the one reported in other countries, the pneumococo frequency and M. pneumoniae, suggests that the empiric therapies should contemplate these two pathologies, the resource toasted by the microbiology laboratory allows to define the etiology and the specific treatment

  2. Comprehensive national energy strategy

    Energy Technology Data Exchange (ETDEWEB)

    NONE

    1998-04-01

    This Comprehensive National Energy Strategy sets forth a set of five common sense goals for national energy policy: (1) improve the efficiency of the energy system, (2) ensure against energy disruptions, (3) promote energy production and use in ways that respect health and environmental values, (4) expand future energy choices, and (5) cooperate internationally on global issues. These goals are further elaborated by a series of objectives and strategies to illustrate how the goals will be achieved. Taken together, the goals, objectives, and strategies form a blueprint for the specific programs, projects, initiatives, investments, and other actions that will be developed and undertaken by the Federal Government, with significant emphasis on the importance of the scientific and technological advancements that will allow implementation of this Comprehensive National Energy Strategy. Moreover, the statutory requirement of regular submissions of national energy policy plans ensures that this framework can be modified to reflect evolving conditions, such as better knowledge of our surroundings, changes in energy markets, and advances in technology. This Strategy, then, should be thought of as a living document. Finally, this plan benefited from the comments and suggestions of numerous individuals and organizations, both inside and outside of government. The Summary of Public Comments, located at the end of this document, describes the public participation process and summarizes the comments that were received. 8 figs.

  3. INFLUENCE OF HEPATOCELLULAR CARCINOMA ETIOLOGY IN THE SURVIVAL AFTER RESECTION.

    Science.gov (United States)

    Lopes, Felipe de Lucena Moreira; Coelho, Fabricio Ferreira; Kruger, Jaime Arthur Pirolla; Fonseca, Gilton Marques; Araujo, Raphael Leonardo Cunha de; Jeismann, Vagner Birk; Herman, Paulo

    2016-01-01

    Hepatocellular carcinoma (HCC) is the most frequent type of primary liver cancer and its incidence is increasing around the world in the last decades, making it the third cause of death by cancer in the world. Hepatic resection is one of the most effective treatments for HCC with five-year survival rates from 50-70%, especially for patients with a single nodule and preserved liver function. Some studies have shown a worse prognosis for HCC patients whose etiology is viral. That brings us to the question about the existence of a difference between the various causes of HCC and its prognosis. To compare the prognosis (overall and disease-free survival at five years) of patients undergoing hepatectomy for the treatment of HCC with respect to various causes of liver disease. Was performed a review of medical records of patients undergoing hepatectomy between 2000 and 2014 for the treatment of HCC. They were divided into groups according to the cause of liver disease, followed by overall and disease-free survival analysis for comparison. There was no statistically significant difference in the outcomes of the groups of patients divided according to the etiology of HCC. Overall and disease-free survival at five years of the patients in this sample were 49.9% and 40.7%, respectively. From the data of this sample, was verified that there was no prognostic differences among the groups of HCC patients of the various etiologies. O carcinoma hepatocelular (CHC) é o mais frequente tipo de câncer primário do fígado e a sua incidência vem aumentando nas últimas décadas, tornando-o hoje a terceira causa de morte por câncer no mundo. A ressecção hepática é um dos tratamentos mais eficazes para ele com taxas de sobrevida em cinco anos de 50-70%, especialmente para pacientes com nódulo único e função hepática preservada. Alguns estudos mostraram pior prognóstico para os pacientes com CHC cuja causa é a infecção por vírus B ou C. Isso leva à questão sobre a

  4. Participation of some campylobacter species in the etiology of enterocolitis

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    Otašević Marica M.

    2004-01-01

    Full Text Available Background. In recent decades, medical community has increasingly been calling attention to the importance of Campylobacter as an disease-causing agent in humans. Nowdays, Campylobacter jejuni (C. jejuni is known as the most frequent bacterial cause of diarrhea worldwide. Epidemiological differences of the infections caused by Campylobacter, present in the developed and the developing countries, are attributed to the differences of the types of virulence. Due to the specificity, and the demanding features of Campylobacter, as well as poorly equipped microbiological laboratories, campylobacteriosis is insufficiently studied in our country. This investigation aimed to determine the participation of some Campylobacter species in the etiology of diarrheal diseases in our population. Methods. The four-years continuous monitoring of Campylobacter presence was performed in the faeces of 12 605 patients with enterocolitis. The control group included 5 774 examinees of healthy children and youth. Faeces samples were cultivated on Skirrow's selective medium, and further incubated according to effective methodology for Campylobacter. Identification of strains was based on morphological, cultural and physiologic features of strains (oxidase test, catalase test, susceptibility to nalidixic acid, and hypurate hydrolysis. As a statistical method, for data processing, c2 test and Fisher’s exact test were used. Results. Campylobacter was proven in 3.86% of enterocolitis patients, and in 0.71% of healthy population. Out of 518 Campylobacter isolates, 86.48% belonged to enterocolitis outpatients, and 13,51% to inpatients. Predominant symptoms of the disease were diarrhea (81.83%, increased temperature (34.71%, vomiting (19.77%, and stomach pain (15.17%. The diseased were predominantly infants in the first year of life. Out of 300 Campylobacter isolates, 75% were identified as Campylobacer jejuni, 23% as Campylobacter coli (C. coli, and 2% as Campylobacter lari

  5. Comprehensive treatment of temporomandibular joint disorders.

    Science.gov (United States)

    Navrátil, Leos; Navratil, Vaclav; Hajkova, Simona; Hlinakova, Petra; Dostalova, Tatjana; Vranová, Jana

    2014-01-01

    Changing lifestyles, decreasing physical activity, which is increasing the number of degenerative joint diseases of various etiology, and certain dental procedures are increasing the number of patients complaining of pain in their temporomandibular joints. The aim of the study was to assess the benefits of comprehensive physiotherapy sessions in order to decrease the number of temporomandibular joint problems, thereby improving the patient's quality of life. An examination by a dentist determined each patient's treatment plan, which consisted of a medical exam, physical therapy and education. Each form of treatment was applied 10 times at intervals of 7-14 days. The main goal of the therapeutic physical education was to redress the muscle imbalance in the mandibular joint. This was achieved by restoring balance between the masticatory muscles, along with releasing the spastic shrouds found in the masticatory muscles. The aim of education was to teach the patient exercises focused on the temporomandibular joint and masticatory muscles. The intensity of the exercises and their composition were individually adjusted and adapted to their current state. Physical therapy consisted of the application of pulsed magnetic therapy, laser therapy, and non-invasive positive thermotherapy. The above procedure was conducted on a therapeutic group of 24 patients (3 men and 20 women). In the course of therapy, there were no complications, and all patients adhered to the prescribed regime. None reported any side effects. The mean treatment duration was 123 +/- 66 days. The outcome of the therapy was evaluated as described in the methodology, the degree of pain affecting the joint, and the opening ability of the mouth. In both parameters, there was a significant decline in patient pain. In a study devoted to tactics of rehabilitation treatment for temporomandibular joint disorders, the need for comprehensive long-term therapy, involving education, and learning proper chewing habits

  6. Psychodermatology: A comprehensive review

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    Savita Yadav

    2013-01-01

    Full Text Available Psychodermatology is an interesting domain of dermatology that overlaps with psychiatry. This arena in dermatology has received limited diligence, partly due to lack of training in this realm. We present here a comprehensive review of salient features and treatment updates in primary psychiatric dermatoses and have also discussed the role of psyche in psychophysiological cutaneous disorders. Secondary psychiatric morbidity is relatively common among patients visiting the dermatologists but often overlooked and uncared for. Dermatologist should be able to initiate basic pharmacotherapy, should be knowledgeable about various non-pharmacological treatments and know the right time to refer the patient to the psychiatrist. Awareness and pertinent treatment of psychodermatological disorders among dermatologists will lead to a more holistic treatment approach and better prognosis in this unique group of patients.

  7. Comprehensive Environmental Management Plan

    International Nuclear Information System (INIS)

    Hjeresen, D.L.

    1994-01-01

    The Environmental Management Program at Los Alamos National Laboratory is in the process of initiating and then implementing a Comprehensive Environmental Management Plan (CEMP). There are several environmental impact and compliance drivers for this initiative. The Los Alamos CEMP is intended to be a flexible, long-range process that predicts, minimizes, treats, and disposes of any waste generated in execution of the Los Alamos mission - even if that mission changes. The CEMP is also intended to improve stakeholder and private sector involvement and access to environmental information. The total quality environmental management (TQEM) process will benchmark Los Alamos to private sector and DOE operations, identify opportunities for improvement, prioritize among opportunities, implement projects, measure progress, and spur continuous improvement in Environmental Management operations

  8. Comprehensive nuclear materials

    CERN Document Server

    Allen, Todd; Stoller, Roger; Yamanaka, Shinsuke

    2012-01-01

    Comprehensive Nuclear Materials encapsulates a panorama of fundamental information on the vast variety of materials employed in the broad field of nuclear technology. The work addresses, in five volumes, 3,400 pages and over 120 chapter-length articles, the full panorama of historical and contemporary international research in nuclear materials, from Actinides to Zirconium alloys, from the worlds' leading scientists and engineers. It synthesizes the most pertinent research to support the selection, assessment, validation and engineering of materials in extreme nuclear environments. The work discusses the major classes of materials suitable for usage in nuclear fission, fusion reactors and high power accelerators, and for diverse functions in fuels, cladding, moderator and control materials, structural, functional, and waste materials.

  9. Current concepts of etiology and treatment of chondromalacia patellae.

    Science.gov (United States)

    Bentley, G; Dowd, G

    1984-10-01

    Chondromalacia patellae is a distinct clinical entity characterized by retropatellar pain that is associated with recognizable changes in the articular cartilage of the posterior surface of the patella. Several factors may be involved in the etiology, such as severe patella alta, trauma, and, in rare cases, abnormal patellar tracking. Clinical symptoms and signs are reliable in only 50% of cases, but measurable quadriceps wasting, palpable patellofemoral crepitus, and effusion are strongly suggestive. Diagnosis must be confirmed by arthroscopy or direct examination of the posterior surface of the patella. Radiologic measurements of patellofemoral relations are of limited value in diagnosis. The initial pathologic finding is usually surface cartilage breakdown. Radioisotope studies show cartilage cell replication which suggests a healing capacity in early cases following treatment that alters the load through the affected cartilage. There is no evidence of progression to patellofemoral osteoarthritis, which is probably a different entity. The treatment should be conservative where possible with isometric quadriceps exercises and simple anti-inflammatory drugs such as aspirin. Operative treatment is indicated for patients with persistent pain and macroscopic involvement of more than half a centimeter of the articular cartilage surface. The simplest effective procedure that avoids quadriceps dysfunction and fibrosis is a distal patellar tendon medial realignment with lateral release and medial reefing of the quadriceps expansion. Patellectomy is indicated in more extensive involvement of the patella of 2 or more centimeters in diameter, but this must be performed only when the patient has excellent quadriceps function before surgery and is motivated to exercise after surgery.

  10. SERUM LIPID PROFILE AS AN ETIOLOGY OF VERTIGO : A STUDY

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    Sami

    2015-09-01

    Full Text Available A prospective study of lipid profile was done in 60 patients of vertigo at E.L.M.C. Lucknow from 2011 to 2014. All components of serum cholesterol were analyzed. Serum cholesterol and hyperlipidemia as an etiology of the atherosclerosis of all blood vessel s also have a role in vestibulo - cochlear vessels. It was found that there were 34 females and 26 males and maximum number of patients (63.33% in the age group of 31 - 50years. Appreciable difference (p<0.05 in the mean value of total lipid, total cholester ol, triglycerides and phospholipids in the control and study group was found but difference was not significant in the mean value of HDL, LDL and VLDL cholesterol level. Four cases of diabetes and ten cases of hypertension of 60 vertigo cases were having m arked vertigo of longer duration. These findings were similar to Mehra Y.N. Thus we find that serum lipid studies are important in the patients of vertigo for the diagnosis and management

  11. Etiology of vertigo in Thai patients at Thammasat Hospital.

    Science.gov (United States)

    Bunasuwan, Parichat; Bunbanjerdsuk, Sacarin; Nilsuwan, Amornwan

    2011-12-01

    The purpose of this research is to study the causes of vertigo in the patients at Otoneurology Clinic, Thammasat Hospital. The data of these patients, collected from the medical records between January 2010 and January 2011, were reviewed and analyzed. From one hundred and forty-nine cases, 49 cases (33%) were men and 100 cases (67%) were women, which yielded the male-to-female ratio of 1:2. The average age of patients was 55 year olds. The most common diagnostic category was peripheral vestibular disorders (80.5%). Other causes were central vestibular disorders (4.7%) and non-vestibular related (4%), whereas the remaining (10.1%) was undiagnosed. The causes of vertigo included benign paroxysmal positional vertigo: BPPV (53%), Meniere's disease (10.1%) and recurrent vestibulopathy (8.1%), while the underlying diseases found were diabetes mellitus (11.4%), hypertension (32.2%) and dyslipidemia (34.2%). In Otoneurology Clinic, Thammasat Hospital, the peripheral vestibular disorders was the main etiology of vertigo, while the three most common causes were BPPV Meniere's disease, and recurrent vestibulopathy respectively.

  12. Male infertility in Kuwait: Etiologic and Therapeutic aspects

    International Nuclear Information System (INIS)

    Qadan, Laila R.; Ahmed, Adel A.; Kapila, Kusum A.; Hassan, Nahida A.; Kodaj, Jan A.; Pathan, Shahed K.

    2007-01-01

    Objective was to evaluate the pathological patterns associated with male infertility in Kuwait and to characterize treatment outcome after varicocele repair using percutaneous varicocele embolization. We carried out a prospective study of 64 infertile men in Kuwait between 2001 and 2005. All patients included had proven non-obstructive azoospermia or oligospermia (sperm count <20 million /ml). All patients underwent ultrasonographic evaluation of the scrotum. Fine needle aspiration of the testes was performed on all azoospermic patients. A total of 24(38%) patients were azoospermic and 40(62%) were oligospermic. Sertoli-cell-only pattern was the most common cytopathology associated with primary testicular failure. Among the oligospermic patients, 50% had small to moderate varicocele. Spermatic vein embolization resulted in a significant rise in the mean sperm count from 10.6+-3.8 million/ml to 30.2+-6.8 million/mn (p<0.05) in 5 treated oligospermic patients, followed by spontaneous pregnancy in 2 couples. No effect was seen azoospermic patients. From an etiological point of view, we believe that the high incidence of Sertoli cell-only-syndrome among nationals and residents of a country that underwent a major environmental insult strengths the chances of an environmental role in the development of this syndrome. From a management point of view, in cultures wherein vitro fertilization is either still not widely acceptable or is unaffordable, oligospermia with clinical or subclinical varicocele deserves a trial of low risk, outpatient procedure, spermatic, vein embolization that could improve fertility. (author)

  13. Strategies for the etiological therapy of cystic fibrosis.

    Science.gov (United States)

    Maiuri, Luigi; Raia, Valeria; Kroemer, Guido

    2017-11-01

    Etiological therapies aim at repairing the underlying cause of cystic fibrosis (CF), which is the functional defect of the cystic fibrosis transmembrane conductance regulator (CFTR) protein owing to mutations in the CFTR gene. Among these, the F508del CFTR mutation accounts for more than two thirds of CF cases worldwide. Two somehow antinomic schools of thought conceive CFTR repair in a different manner. According to one vision, drugs should directly target the mutated CFTR protein to increase its plasma membrane expression (correctors) or improve its ion transport function (potentiators). An alternative strategy consists in modulating the cellular environment and proteostasis networks in which the mutated CFTR protein is synthesized, traffics to its final destination, the plasma membrane, and is turned over. We will analyze distinctive advantages and drawbacks of these strategies in terms of their scientific and clinical dimensions, and we will propose a global strategy for CF research and development based on a reconciliatory approach. Moreover, we will discuss the utility of preclinical biomarkers that may guide the personalized, patient-specific implementation of CF therapies.

  14. Branchial cleft or cervical lymphoepithelial cysts: etiology and management.

    Science.gov (United States)

    Glosser, Jeffrey W; Pires, Carlos Alberto S; Feinberg, Stephen E

    2003-01-01

    The cervical lymphoepithelial or branchial cleft cyst is a developmental cyst that has a disputed pathogenesis. The objective of this article is to provide a brief review of the literature and to define diagnostic terms related to this anomaly, as well as to describe its etiology, clinical presentation and treatment. The cervical lymphoepithelial or branchial cleft cyst usually presents as a unilateral, soft-tissue fluctuant swelling that typically appears in the lateral aspect of the neck, anterior to the sternocleidomastoid muscle, and becomes clinically evident late in childhood or in early adulthood. Clinicians can diagnose the cyst with appropriate imaging to assess the extent of the lesion before definitive surgical treatment. The authors describe a patient who underwent excision of a well-encapsulated cystic structure that was diagnosed as a branchial cleft cyst. The cervical lymphoepithelial or branchial cleft cyst can be easily misdiagnosed as a parotid swelling or odontogenic infection. It is imperative that clinicians make an accurate diagnosis so that appropriate treatment (that is, surgical excision) can be performed. If the cysts are treated properly, recurrences are rare.

  15. Mesoamerican nephropathy: a neglected tropical disease with an infectious etiology?

    Science.gov (United States)

    Murray, Kristy O; Fischer, Rebecca S B; Chavarria, Denis; Duttmann, Christiane; Garcia, Melissa N; Gorchakov, Rodion; Hotez, Peter J; Jiron, William; Leibler, Jessica H; Lopez, Job E; Mandayam, Sreedhar; Marin, Alejandro; Sheleby, Jessica

    2015-10-01

    An outbreak of unexplained and severe kidney disease, "Mesoamerican Nephropathy," in mostly young, male sugar cane workers emerged in Central America in the late 1990's. As a result, an estimated 20,000 individuals have died, to date. Unfortunately, and with great consequence to human life, the etiology of the outbreak has yet to be identified. The sugarcane fields in Chichigalpa, Chinandega, Nicaragua, have been involved in the outbreak, and during our initial investigation, we interviewed case patients who experienced fever, nausea and vomiting, arthralgia, myalgia, headache, neck and back pain, weakness, and paresthesia at the onset of acute kidney disease. We also observed a heavy infestation of rodents, particularly of Sigmodon species, in the sugarcane fields. We hypothesize that infectious pathogens are being shed through the urine and feces of these rodents, and workers are exposed to these pathogens during the process of cultivating and harvesting sugarcane. In this paper, we will discuss the epidemic in the Chichigalpa area, potential pathogens responsible for Mesoamerican Nephropathy, and steps needed in order to diagnose, treat, and prevent future cases from occurring. Copyright © 2015 Institut Pasteur. Published by Elsevier Masson SAS. All rights reserved.

  16. Chronic kidney disease of unknown etiology in Sri Lanka.

    Science.gov (United States)

    Rajapakse, Senaka; Shivanthan, Mitrakrishnan Chrishan; Selvarajah, Mathu

    2016-07-01

    In the last two decades, chronic kidney disease of unknown etiology (CKDu) has emerged as a significant contributor to the burden of chronic kidney disease (CKD) in rural Sri Lanka. It is characterized by the absence of identified causes for CKD. The prevalence of CKDu is 15.1-22.9% in some Sri Lankan districts, and previous research has found an association with farming occupations. A systematic literature review in Pubmed, Embase, Scopus, and Lilacs databases identified 46 eligible peer-reviewed articles and one conference abstract. Geographical mapping indicates a relationship between CKDu and agricultural irrigation water sources. Health mapping studies, human biological studies, and environment-based studies have explored possible causative agents. Most studies focused on likely causative agents related to agricultural practices, geographical distribution based on the prevalence and incidence of CKDu, and contaminants identified in drinking water. Nonetheless, the link between agrochemicals or heavy metals and CKDu remains to be established. No definitive cause for CKDu has been identified. Evidence to date suggests that the disease is related to one or more environmental agents, however pinpointing a definite cause for CKDu is challenging. It is plausible that CKDu is multifactorial. No specific guidelines or recommendations exist for treatment of CKDu, and standard management protocols for CKD apply. Changes in agricultural practices, provision of safe drinking water, and occupational safety precautions are recommended by the World Health Organization.

  17. MSX1 gene in the etiology orofacial deformities

    Directory of Open Access Journals (Sweden)

    Anna Paradowska-Stolarz

    2015-12-01

    Full Text Available The muscle segment homeobox (MSX1 gene plays a crucial role in epithelial-mesenchymal tissue interactions in craniofacial development. It plays a regulative role in cellular proliferation, differentiation and cell death. The human MSX1 domain was also found in cow (Bt 302906, mouse (Mm 123311, rat (Rn13592001, chicken (Gg 170873 and clawed toad (XI 547690. Cleft lip and palate is the most common anomaly of the facial part of the skull. The etiology is not fully understood, but it is believed that the key role is played by the genetic factor activated by environmental factors. Among the candidate genes whose mutations could lead to formation of the cleft, the MSX1 homeobox gene is mentioned. Mutations in the gene MSX1 can lead to isolated cleft deformities, but also cause other dismorphic changes. Among the most frequently mentioned is loss of permanent tooth buds (mostly of less than 4 teeth – hypodontia, including second premolars. Mutations of MSX1 are observed in the Pierre- Robin sequence, which may be one of the features of congenital defects or is observed as an isolated defect. Mutation of the gene can lead to the occurrence of a rare congenital defect Wiktop (dental-nail syndrome. Deletion of a fragment MSX1 (4p16.3 located in the WHS critical region, may be a cause of some symptoms of Wolf-Hirschhorn syndrome.

  18. Selective mutism: a review of etiology, comorbidities, and treatment.

    Science.gov (United States)

    Wong, Priscilla

    2010-03-01

    Selective mutism is a rare and multidimensional childhood disorder that typically affects children entering school age. It is characterized by the persistent failure to speak in select social settings despite possessing the ability to speak and speak comfortably in more familiar settings. Many theories attempt to explain the etiology of selective mutism.Comorbidities and treatment. Selective mutism can present a variety of comorbidities including enuresis, encopresis, obsessive-compulsive disorder, depression, premorbid speech and language abnormalities, developmental delay, and Asperger's disorders. The specific manifestations and severity of these comorbidities vary based on the individual. Given the multidimensional manifestations of selective mutism, treatment options are similarly diverse. They include individual behavioral therapy, family therapy, and psychotherapy with antidepressants and anti-anxiety medications.Future directions. While studies have helped to elucidate the phenomenology of selective mutism, limitations and gaps in knowledge still persist. In particular, the literature on selective mutism consists primarily of small sample populations and case reports. Future research aims to develop an increasingly integrated, multidimensional framework for evaluating and treating children with selective mutism.

  19. Tactics and Surgical Treatment of Obstructive Jaundice of Different Etiology

    Directory of Open Access Journals (Sweden)

    V.M. Ratchik

    2014-11-01

    Full Text Available In the department of surgery of the digestive organs of State institution «Institute of gastroenterology of National aca-demy of medical sciences of Ukraine» for the period from 2003 to 2013, 567 patients with pathology of the hepatopancreatobiliary zone of different etiology, complicated with obstructive jaundice, underwent surgery. 197 (34.7 % patients with bilirubinemia more than 200 µmol/l and III degree of liver failure underwent two-stage treatment. Endoscopic (two-step techniques were applied for the treatment of 143 (25.2 % patients with choledocholithiasis. One-step minimally invasive interventions — laparoscopic cholecystectomy, external drainage of the common bile duct, lithoextraction, balloon dilatation of the sphincter of Oddi — implemented in 41 (10.4 % patients. In complications chronic pancreatitis, draining surgeries were performed in 20 (25.6 % patients and resection-draining — in 39 (50.0 %, with the correction of bile outflow, as well as endoscopic, laparoscopic and minimally invasive puncture-draining operations were carried out. 2 (2.6 % patients underwent pancreatoduodenectomy by Whipple. Two-stage surgeries were performed in 26 (33.3 % patients. At tumors of cholangiopancreatoduodenal zone, 18 (30.5 % patients underwent percutaneous endobiliary reducing interventions followed by radical surgery in 10 (16.9 % patients.

  20. Clinico-etiologic correlates of onychomycosis in Sikkim

    Directory of Open Access Journals (Sweden)

    Adhikari Luna

    2009-04-01

    Full Text Available Aims and objectives: The etiological spectrum of any superficial mycosis is largely dependent on the flora in the immediate environment of the individual. It is influenced by the geographic, climatic and occupational factors. The study is basically to formulate baseline data for the species prevalence of various dermatophytes in patients with onychomycosis attending the Central Referral Hospital, Gangtok, Sikkim. Materials and Methods: Thirty-four clinically suspected cases of onychomycosis were subjected to mycological studies. Results: Thirty-two (94.12% cases were positive for fungal elements by direct microscopy and 28 (82.35% by culture. Young adults in the age group of 21-30 years were mainly affected. The male:female ratio was 1.125:1. Dermatophytes were isolated in 18 cases (64.29%. Trichophyton tonsurans (44.44% was the most common isolate followed by T. mentagrophytes (22.22%, T. rubrum (11.11%, T. verrucosum (11.11% and Microsporum audouinii (11.11%. Apart from dermatophytes, Aspergillus niger (21.43% and Penicillium marneffei (14.28% were also isolated. Conclusion: Dermatophytes, mainly T. tonsurans, as well as moulds other than dermatophytes were isolated from onychomycosis patients in Gangtok, Sikkim.

  1. Prevalence and etiology of respiratory distress in newborns

    International Nuclear Information System (INIS)

    Zaman, S.; Goheer, L.; Riaz, H.

    2013-01-01

    Objective: To determine the prevalence and etiology of respiratory distress in the newborns delivered over the period of one year from 1st January 2008 to 31st Dec 2008. Study Design: A descriptive study Place and Duration of Study: The study was conducted in Armed Forces Hospital Sharurah Kingdom of Saudi Arabia over a period of one year from January 2008 to Dec 2008 Patients and methods: All live newborns delivered at Armed Forces Hospital Sharurah during the study period were included and observed for development of respiratory distress. Results: All newborns (n=659), delivered at this hospital over the period of 12 months, were observed for respiratory distress. The overall prevalence of respiratory distress (RD) was 4.24%. Prevalence was 19.7% in preterm and 2.3% in full term. Transient tachypnea of newborn(TTN) was found to be the commonest 35.7% cause of Respiratory Distress (RD) followed by Hyaline membrane disease (HMD) 25%, meconium aspiration syndrome (MAS) 17.9%, congenital pneumonia 7.1% and other congenital anomalies 14.3%. TTN was found to be common among both term and preterm babies, while hyaline membrane disease was seen among preterm, and meconium aspiration syndrome among term and post term babies. Conclusion: Respiratory distress is a common neonatal problem with significant morbidity and mortality. Majority of cases are due to TTN followed by hyaline membrane disease and meconium aspiration syndrome. (author)

  2. Chromosomal aberrations as etiological factors of intrauterine growth retardation

    Directory of Open Access Journals (Sweden)

    Petrović Bojana

    2008-01-01

    Full Text Available Background/Aim. Intrauterine growth retardation (IUGR is a pathological condition of pregnancy characterised by birth weight below the 10th centile. A number of fetal, placental and maternal causes can lead to IUGR; although, in most cases no specific causes can be identified. The aim of this study was to determine the part of chromosomal abnormalities in IUGR etiology. Methods. Fetal blood karyotype taken by cordocentesis from 168 fetuses with diagnosed IUGR was analyzed. Results. Chromosomal rearrangements both numerical and structural were detected in 14 cases (12.2%. Two cases were triploid. Patau syndrome, Edwards syndrome and Down syndrome were found in two cases each. There was one case of trisomy 7 (47, XY, +7 and one case of trisomy 16 (47, XX, +16; one translocation, 46, XY, t (2; 14(q23; q32 and a deletion 46, XYdel (12 (p12 as well as two cases of sex chromosomes abnormalities, 45, X (Turner syndrome and 47, XYY. Conclusion. These findings suggest that a consistent number of symmetrical IUGR cases (about 12% can be associated with chromosomal rearrangements. Chromosomal aberrations that cause IUGR are heterogeneous, aberration of autosomes, mostly autosomal trisomies, being the most common.

  3. Transgender Associations and Possible Etiology: A Literature Review.

    Science.gov (United States)

    Saleem, Fatima; Rizvi, Syed W

    2017-12-24

    Transgender or gender dysphoria has been defined in the fifth edition of the Diagnostic and Statistical Manual of Mental Disorders (DSM-5), as distress resulting from the incongruence between one's experienced gender and one's assigned gender, along with a persistent and strong desire to be of another gender, and accompanied by clinically significant distress. Adolescents referred for evaluation often want hormonal therapy and several among them also express a desire for gender reassignment surgery. Furthermore, evidence shows that adolescents and adults with gender dysphoria without a sex development disorder, before gender reassignments, are at increased risk for suicide. For this review, a search of the English language scientific literature was conducted using the PubMed database. This summary discusses the associations and comorbidities of gender dysphoria and reiterates the evidence that its etiology is multifactorial. Transsexualism involves prenatal neuroanatomical changes, has a psychiatric association, and is found to be more prevalent in conjunction with schizophrenia and autism spectrum disorders. Childhood adversities and neglect are also linked to having a transgender identity. Moreover, the evidence favors a genetic predisposition. Likewise, there seems to be a growing concern with regards to the relationship between endocrine disruptors and transsexuals as well as other gender minority populations. More research needs to be done to understand the exact pathways.

  4. Late-onset hypogonadism: etiology, clinical features, diagnostics, treatment

    Directory of Open Access Journals (Sweden)

    E. Yu. Pashkova

    2015-04-01

    Full Text Available In a critical review of the literature current data concerning etiology, clinical features, diagnostics, treatment of late-onset hypogonadism (LOH are given. LOH is a multidisciplinary problem, because a patient with LOH can have osteoporosis, anemia, depression, obesity, diabetes mellitus, erectile dysfunction. Sometimes it is hard to realize that all this complaints are symptoms of LOH. LOH has a negative impact on a patient,s quality of life and it,s impossible to help without androgen replacement therapy. Furthermore doctors often have doubts about testosterone replacement therapy safety because of lack of accurate information. In a convenient for medical practitioners form clinical and laboratory diagnostic criteria of LOH are presented together with formulas for conversion from one measurement unit of main sex hormones into another. Based on latest ISSAM guidelines (International Society for the Study of the Aging Male modern treatment options of LOH are summarized, full information about available testosterone preparations (oral, transdermal, injectable with comparative analysis of advantages and disadvantages of each is given. A full description of indications and contraindications for androgen replacement treatment is presented, also treatment regimen and medical supervision algorithm during treatment are described. 

  5. Late-onset hypogonadism: etiology, clinical features, diagnostics, treatment

    Directory of Open Access Journals (Sweden)

    E. Yu. Pashkova

    2015-01-01

    Full Text Available In a critical review of the literature current data concerning etiology, clinical features, diagnostics, treatment of late-onset hypogonadism (LOH are given. LOH is a multidisciplinary problem, because a patient with LOH can have osteoporosis, anemia, depression, obesity, diabetes mellitus, erectile dysfunction. Sometimes it is hard to realize that all this complaints are symptoms of LOH. LOH has a negative impact on a patient,s quality of life and it,s impossible to help without androgen replacement therapy. Furthermore doctors often have doubts about testosterone replacement therapy safety because of lack of accurate information. In a convenient for medical practitioners form clinical and laboratory diagnostic criteria of LOH are presented together with formulas for conversion from one measurement unit of main sex hormones into another. Based on latest ISSAM guidelines (International Society for the Study of the Aging Male modern treatment options of LOH are summarized, full information about available testosterone preparations (oral, transdermal, injectable with comparative analysis of advantages and disadvantages of each is given. A full description of indications and contraindications for androgen replacement treatment is presented, also treatment regimen and medical supervision algorithm during treatment are described. 

  6. Voiding dysfunction: another etiology of vulvovaginitis in young girls.

    Science.gov (United States)

    Romero, P; Rodríguez, E; Muñoz, M; Delucchi, A; Guerrero, J L; Lillo, A M; Cano, F; Matilde Osses, Sra; Romero, M I; Gonzalez Roca, C

    2011-08-01

    To determine the prevalence of voiding dysfunction (VD) in patients with persistent vulvovaginitis (PVV), and to evaluate the clinical response of PVV in the treatment of VD. Girls four years or older who consulted for PVV for at least one month and who did not respond to general measures. A physical examination was performed with visual inspection and colposcopy; vaginal samples for culture and vaginoscopy were carried out. On every patient urodynamic studies were performed. Girls who were diagnosed with VD were treated. A pediatric gynecologist did the follow-up; a successful response was considered when inflammatory symptoms and vaginal discharge ceased. Twenty patients were included, mean age 8.6 years (range: 4.6-14 years); 75% prepubertal symptoms lasted for 1.8 years; 19 (95%) had urodynamia, 10 (52.6%) had an overactive bladder, 8 (42.1%) external bladder sphincter dyssynergia, 1 (5.2%) hypotonic bladder, and 13 (65%) showed improvement. VD is an important cause when considering the etiology of PVV. 2011 North American Society for Pediatric and Adolescent Gynecology. Published by Elsevier Inc. All rights reserved.

  7. Onychomycosis: Clinical findings, etiological agents and evaluation of laboratory methods

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    Dubljanin Eleonora

    2014-01-01

    Full Text Available The aim of this study was to identify the etiological agents in patients with suspected onychomycosis, and to carry out comparative testing of individual or combinations of tests: direct microscopy with KOH and Blankophor (BP, culturing on Sabouraud’s dextrose agar (SDA, diluted Sabouraud’s dextrose agar (D-SDA and dermatophyte test medium (DTM. From 70 nail samples (65 toenails, 5 fingernails, 46 (60.5% had at least one of five positive tests. Isolation was possible in 41, while in 5 samples the presence of fungi was observed by KOH and/or BP. Dermatophytes were most frequently isolated (80.5% where Trichophyton rubrum was predominant. Candida spp. was isolated in 9.8%, Aspergillus spp. 4.9%, Alternaria spp. 2.4% and Fusarium spp. 2.4%. Application of BP as an individual test was the most sensitive method. The combination of BP with DTM or D-SDA provides the best sensitivity and allows the identification of fungi to the species/genus level.

  8. Frequency of etiological factors leading to patent ductus arteriosus

    International Nuclear Information System (INIS)

    Waheed, I.; Shahbaz, A.

    2013-01-01

    Background: Patent Ductus Arteriosus (PDA) is developing as major problem in our society. Many studies in Pakistan has been done to analyze the efficacy of surgical procedures but no one tried to find the frequency of factors leading to this problem. Objective: The purpose of this study was to find out the frequency of factors leading to patent ductus arteriosus in children presented at Punjab Institute of Cardiology. Method: A cross sectional study was conducted on 242 patients of PDA who already have been treated during the year 2006 - 2007. They were interviewed on their regular follow up visits. Their operative information was gathered from their files. Results: Mean age of children at time of treatment was 6.12 + 5.203 years. Out of 242 children, there were more female (62.8%) as compared to male (37.2%). In this study, 17.8% children inherited the disease from their close relatives and 105 (43.4%) mothers had some infectious problems during pregnancy. 103 (42.6%) mothers used antibiotics or other drugs during pregnancy. 11 (4.5%) children had Down syndrome. One hundred and thirty seven (56.61%) children had premature birth. Conclusion: Female gender, preterm birth, infection during pregnancy, mother's exposure to drugs and smoking, low birth weight may be etiological factors for development of PDA. (author)

  9. Etiology and antimicrobial resistance patterns in pediatric urinary tract infection.

    Science.gov (United States)

    Wang, Jun; He, Lijiao; Sha, Jintong; Zhu, Haobo; Huang, Liqu; Zhu, Xiaojiang; Dong, Jun; Li, Guogen; Ge, Zheng; Lu, Rugang; Ma, Geng; Shi, Yaqi; Guo, Yunfei

    2018-02-02

    Urinary tract infection (UTI) is one of most common pediatric infections. The aim of this study was to investigate the etiology and antimicrobial resistance patterns in children hospitalized at Children's Hospital of Nanjing Medical University. We conducted a retrospective, descriptive study of all UTI from 1 January 2013 to 30 November 2016 in children discharged from Nanjing Children's Hospital. The isolated pathogens and their resistance patterns were examined using midstream urine culture. A total of 2,316 children with UTI were included in the study. The occurrence rates of isolated pathogens were as follows: Enterococcus spp., 35.15%; Escherichia coli, 22.32%; Staphylococcus aureus spp., 7.73%; Streptococcus spp., 7.51%; and Klebsiella spp., 6.95%. Uropathogens had a low susceptibility to linezolid (3.47%), vancomycin (0.92%), imipenem (5.74%), and amikacin (3.17%), but they had a high susceptibility to erythromycin (90.52%), penicillin G (74.01%), cefotaxime (71.41%), cefazolin (73.41%), cefuroxime (72.52%), and aztreonam (70.11%). There is high antibiotic resistance in hospitalized children with UTI. Susceptibility testing should be carried out on all clinical isolates, and the empirical antibiotic treatment should be altered accordingly. © 2018 Japan Pediatric Society.

  10. Acquired von Willebrand syndrome: A rare disorder of heterogeneous etiology

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    P Kasatkar

    2013-01-01

    Full Text Available Context: Acquired von Willebrand syndrome (AVWS is a rare bleeding disorder that mimics the inherited form of von Willebrand disease (VWD in terms of laboratory findings and clinical presentation. Aims: To study the etiology of acquired VWD. Settings and Design: The patients referred from various hospitals in and out of Mumbai were included in the study. Materials and Methods: Six patients with AVWS diagnosed at this center over the last 10 years were analyzed against 171 patients with inherited VWD. The differential diagnosis of AVWS was made based on reduced levels of von Willebrand antigen and von Willebrand ristocetin cofactor, decrease in ristocetin induced platelet aggregation, absence of correction in mixing studies with no prior history of bleeding problems and a negative family history for bleeding disorders. Results: In three patients, the disease was associated with systematic lupus erythematosus, out of which one was also associated with Kikuchi lymphadenitis and second with autoimmune hemolytic anemia. Fourth case was associated with hypothyroidism and fifth was a case of dermatitis and vitiligo. The last patient was a case of hemophilia A with Burkitts lymphoma, who developed autoantibodies to von Willebrand factor. Except two patients, all other patients responded to immune suppressive therapy with corticosteroids, while the patient with hypothyroidism responded to oral thyroxine. Conclusion: AVWS is a rare condition and may often be missed or diagnosed as inherited disease associated with heterogeneous disease conditions.

  11. [Bad breath--etiological, diagnostic and therapeutic problems].

    Science.gov (United States)

    Reiss, M; Reiss, G

    2000-01-01

    Oral malodor has many etiologies and is a clinical problem for many people. This paper reviews the causes and management of oral malador. In the majority of cases the problem has been shown to originate in the oral cavity. Oral malodor, a generic descriptor term for foul smells emanating from the mouth, encompasses ozostomia, stomatodysodia, halitosis (both pathological halitosis and physiological halitosis) and fetor oris or fetor ex ore. These latter terms, in turn, denote different sources of oral malodor. All conditions that favour the retention of anaerobic, mainly gram-negative, bacteria will predispose for the development of bad breath. In addition to periodontal pockets, the most important retention site is the dorsum of the tongue with its numerous papillae. During the night and between meals the conditions are optimal for odour production. Systemic pathological states, such as diabetes mellitus, uremia and hepatic diseases, induce metabolic products that are detectable as oral smells. It is always easy to recognize halitosis, but identifying the exact cause is more complex. The clinical labelling and interpretation of different oral malodors both contribute to the diagnosis and treatment of underlying disease. Treatment is directed at the underlying cause.

  12. Etiologies and clinical presentation of gigantism in Algeria.

    Science.gov (United States)

    Chentli, Farida; Azzoug, Said; Amani, Mohammed El Amine; Haddam, Ali El Mahdi; Chaouki, Dalal; Meskine, Djamila; Chaouki, Mohamed Lamine

    2012-01-01

    True gigantism is an exceptional and fascinating pediatric disease. Our aim in this study was to describe the different etiologies of a large group of children with gigantism and the natural history of their growth. In this multicenter study, we considered as giant children, adolescents and adults whose heights were ≥3 SD compared to their target stature or to our population average lengths. Isolated hypogonadism and Klinefelter syndrome were excluded from this series. All underwent clinical exam, and hormonal and neurological investigations. From 1980 to 2010, we observed 30 giants: 26 males (86.6%) and 4 females (mean age 19.8 ± 11 years). Among the 13 patients (40.3%) who consulted before the age of 16 years, 9 had acromegaly and 6 had mental retardation and body malformations. Based on growth hormone (GH) secretion evaluation, 2 groups were observed: pituitary gigantism (n = 16): GH = 150 ± 252 ng/ml (n ≤ 5), and other causes with normal GH (0.7 ± 0.6 ng/ml): 6 Sotos syndrome and 8 idiopathic cases. Only the first group had neurological, ophthalmological, metabolic and cardiovascular complications and received treatment. The result was not optimal as GH normalization was not observed. Reduction of tumor size and decreased GH plasma values were not observed. Gigantism predominates in males. The main cause is GH excess. The diagnosis was very late except for cerebral gigantism. Complications were observed in pituitary gigantism only. Copyright © 2012 S. Karger AG, Basel.

  13. Chronic urticaria in children: Etiologies, Clinical Manifestations, Diagnosis and Treatment

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    Javad Ghaffari

    2013-06-01

    Full Text Available Chronic urticaria is defined as a skin disease with central induration (wheal and erythema formation around it (flare that appears at least twice a week and remains at least for 6 weeks continually. The incidence of urticaria in children is about 0.1-3%. Most cases of chronic urticaria occur in children between 6-11 years. Autoimmune and allergy immaturity is one of the reasons of lower incidence of chronic urticaria in younger children. Quality of life impairment in children with urticaria has been known to be similar to diseases with severe atopic dermatitis, epilepsy, diabetes mellitus and asthma. There are several causes for chronic urticaria in children in different reports. In most of cases the known etiologic agents are varies from 21 to 83%. Overall, infectious causes of chronic urticaria in children are more common and obvious than other in adults .In most cases, the cause of chronic urticaria are idiopathic or autoimmune. Urticaria severity divided to mild, moderate and severe was based on the number of wheals and severity of pruritus. Diagnosis of chronic urticaria is based on a good history and physical examination. The treatment of chronic urticaria is a patient education that is to remove the triggering and aggravating agents, resolving and treating of the known disease and the use of various medicines based on the history and clinical findings. The first medical therapeutics lines in children are anti-histamines, beta-blocker H1 and new generation of non-sedating agents.

  14. Review of hepatocellular carcinoma: Epidemiology, etiology, and carcinogenesis

    Directory of Open Access Journals (Sweden)

    Yezaz Ahmed Ghouri

    2017-01-01

    Full Text Available Since the 1970s, the epidemic of hepatocellular carcinoma (HCC has spread beyond the Eastern Asian predominance and has been increasing in Northern hemisphere, especially in the United States (US and Western Europe. It occurs more commonly in males in the fourth and fifth decades of life. Among all cancers, HCC is one of the fastest growing causes of death in the US and poses a significant economic burden on healthcare. Chronic liver disease due to hepatitis B virus or hepatitis C virus and alcohol accounts for the majority of HCC cases. Incidence of nonalcoholic fatty liver disease has been on the risem and it has also been associated with the development of HCC. Its pathogenesis varies based on the underlying etiological factor although majority of cases develop in the setting of background cirrhosis. Carcinogenesis of HCC includes angiogenesis, chronic inflammation, and tumor macroenvironment and microenvironment. There is a significant role of both intrinsic genetic risk factors and extrinsic influences such as alcohol or viral infections that lead to the development of HCC. Understanding its etiopathogenesis helps select appropriate diagnostic tests and treatments.

  15. Review of hepatocellular carcinoma: Epidemiology, etiology, and carcinogenesis.

    Science.gov (United States)

    Ghouri, Yezaz Ahmed; Mian, Idrees; Rowe, Julie H

    2017-01-01

    Since the 1970s, the epidemic of hepatocellular carcinoma (HCC) has spread beyond the Eastern Asian predominance and has been increasing in Northern hemisphere, especially in the United States (US) and Western Europe. It occurs more commonly in males in the fourth and fifth decades of life. Among all cancers, HCC is one of the fastest growing causes of death in the US and poses a significant economic burden on healthcare. Chronic liver disease due to hepatitis B virus or hepatitis C virus and alcohol accounts for the majority of HCC cases. Incidence of nonalcoholic fatty liver disease has been on the risem and it has also been associated with the development of HCC. Its pathogenesis varies based on the underlying etiological factor although majority of cases develop in the setting of background cirrhosis. Carcinogenesis of HCC includes angiogenesis, chronic inflammation, and tumor macroenvironment and microenvironment. There is a significant role of both intrinsic genetic risk factors and extrinsic influences such as alcohol or viral infections that lead to the development of HCC. Understanding its etiopathogenesis helps select appropriate diagnostic tests and treatments.

  16. Etiologic study of urinary tract infection in dogs

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    Marcia Mery Kogika

    1995-03-01

    Full Text Available Urinary tract infections were documented in 51 dogs. Several factors such as etiologic agents, localization of the infection, predisposing factors, sex, age, and breed were considered. The diagnosis of urinary tract infection (UTI was based on bacteriological investigation and it was considered positive when urine sample collected by catheterization contained more than 105 bacteria/ml. Mixed infection was found in 4 of the infected dogs, totallizing 55 isolates. Among them, Escherichia coli (35.3% was the most frequently isolated, followed by Staphylococcus sp. (23.5%, Proteus mirabilis (15.7%, Streptococcus sp. (13.7%, Klebsiella sp. (9.8%. Pseudomonas aeruginosa (3.9%, Enterobacter cloacae (2.0%, Citrobacter freundii (2.0% and Providencia rettgeri (2.0%. As to antimicrobial susceptibility, norfloxacin and gentamicin were successful for the treatment of gram-negative microorganisms, while the most effective drugs for gram-positive bacteria were cephalothin and nitrofurantoin. UTI was observed more frequently in Cocker Spaniel and German Shepherd; male dogs were more involved, and pyelonephritis was the predominant disease observed. Infection was seen in all ages, but the frequency was higher in middle aged dogs. Urolithiasis were observed as common predisposing or underlying factors to UTI being, cither Staphylococcus sp. or Proteus mirabilis isolated in those cases which alkaline urine pH was observed.

  17. Fulminant hepatic failure in children: Etiology, histopathology and MDCT findings

    International Nuclear Information System (INIS)

    Cakir, Banu; Kirbas, Ismail; Demirhan, Beyhan; Tarhan, Nefise Cagla; Bozkurt, Alper; Ozcay, Figen; Coskun, Mehmet

    2009-01-01

    Introduction: The purpose of this study is to determine the etiologies, histopathology and MDCT findings of children with fulminant hepatic failure admitted to our institution. Materials and methods: Between June 2004 and November 2006, 15 children with fulminant hepatic failure who underwent MDCT were included retrospectively in this study. Twelve patients had liver biopsies. The patients were divided into three groups as hyperacute (Group I), acute (Group II) and subacute (Group III) depending on onset of hepatic encephalopathy. Results: Hepatitis A in 4 patients, non-A, non-E hepatitis in 4; mushroom poisoning in 3; fulminant Wilson's disease in 2; autoimmune hepatitis in 1; and both hepatitis B and toxic hepatitis (with leflunomide treatment) in 1 patient were detected. MDCT of all three groups revealed diffuse reduction in hepatic attenuation in 11 patients; ascites in 9; periportal edema in 6; edema of gallbladder wall in 6; splenomegaly in 6; heterogeneous hepatic parenchyma in 6; hepatomegaly in 3; irregular contours of liver in 2; multiple micronodules in 1 and necrotic areas and regeneration in liver parenchyma in 2 patients. Histopathologic evaluation of liver biopsies showed massive hepatic necrosis, inflammatory cell infiltration and ductular proliferation in 8 patients, periportal edema in 6, edema of gallbladder wall in 5, regenerating nodules and fibrous septa consistent with cirrhotic pattern in 2, and regenerating nodules and necrotic areas in 2 patients. Conclusion: The most common MDCT findings in fulminant hepatic failure were diffuse reduction in hepatic attenuation and ascites. Massive hepatic necrosis was the most common histopathologic finding.

  18. [Etiological aspects of occupational cancer in printing industry].

    Science.gov (United States)

    Il'icheva, S A; Zaridze, D G

    2004-01-01

    Research of oncology lethality from workplace exposures is one of the most effective approaches to studying the etiology of malignant neoplasms. However, certain problems of methodology compromise the informative value of such research whose purpose is to identify the carcinogens. Addition of data on morbidity and lethality in heterogeneous industrial categories, whose typical feature are inhomogeneous exposures, is a major methodological problem. The fact that the studied occupational populations are limited to male subjects is another important problem. The most adequate epidemiological study projects were analyzed and compared with the results of our own case study, which dealt, for the first time in the history of our country, with investigating the lethality causes of 1552 males and 3473 females occupied as compositors, printers and bookbinders at two major printing enterprises in the city of Moscow. According to the authors, an exposure to polycyclic aromatic hydrocarbons, e.g. benzopirin, could be a reliably higher risk of mortality of melanoma and of ovarian cancer among female press operators. With regard for experimental and epidemiological research, the authors believe it appropriate to put forward the below hypothesis: a many-year exposure to minimal quantities of asbestos contained in the paper dust was the key trigger inducing the malignant mesothelioma and ovarian cancer in bookbinders and printers.

  19. Etiology of Teen Dating Violence among Adolescent Children of Alcoholics.

    Science.gov (United States)

    Livingston, Jennifer A; Eiden, Rina D; Lessard, Jared; Casey, Meghan; Henrie, James; Leonard, Kenneth E

    2018-03-01

    Family processes in early life have been implicated in adolescent involvement in teen dating violence, yet the developmental pathways through which this occurs are not well understood. In this study, etiological pathways from parental psychopathology and marital conflict in infancy to involvement in dating violence in late adolescence were examined in a sample of children at high-risk due to parental alcohol problems. Families (N = 227) recruited when the child was 12 months of age were assessed at 12-, 24-, 36-months, kindergarten, 6th, 8th, and 12th grades. Slightly more than half of the children were female (51%) and the majority were of European American descent (91%). Parental psychopathology in infancy was indirectly associated with teen dating violence in late adolescence via low maternal warmth and self-regulation in early childhood, externalizing behavior from kindergarten to early adolescence, and sibling problems in middle childhood. Marital conflict was also indirectly associated with teen dating violence via child externalizing behavior. Maternal warmth and sensitivity in early childhood emerged as an important protective factor and was associated with reduced marital conflict and increased child self-regulation in the preschool years as well as increased parental monitoring in middle childhood and early adolescence. Family processes occurring in the preschool years and in middle childhood appear to be critical periods for creating conditions that contribute to dating violence risk in late adolescence. These findings underscore the need for early intervention and prevention with at-risk families.

  20. Urinary tract infections in women: etiology and treatment options

    Directory of Open Access Journals (Sweden)

    Minardi D

    2011-04-01

    Full Text Available Daniele Minardi, Gianluca d'Anzeo, Daniele Cantoro, Alessandro Conti, Giovanni MuzzonigroDepartment of Clinical and Specialist Sciences, Urology, Polytechnic University of the Marche Medical School and United Hospitals, Ancona, ItalyAbstract: Urinary tract infections (UTI are common among the female population. It has been calculated that about one-third of adult women have experienced an episode of symptomatic cystitis at least once. It is also common for these episodes to recur. If predisposing factors are not identified and removed, UTI can lead to more serious consequences, in particular kidney damage and renal failure. The aim of this review was to analyze the factors more commonly correlated with UTI in women, and to see what possible solutions are currently used in general practice and specialized areas, as well as those still under investigation. A good understanding of the possible pathogenic factors contributing to the development of UTI and its recurrence will help the general practitioner to interview the patient, search for causes that would otherwise remain undiscovered, and to identify the correct therapeutic strategy.Keywords: urinary tract infection, women, etiology, diagnosis, treatment

  1. Etiology of cutaneous vasculitis: utility of a systemic approach

    Science.gov (United States)

    Chanussot-Deprez, Caroline; Vega-Memije, María Elisa; Flores-Suárez, Luis; Ríos-Romero, Celia; Cabiedes-Contreras, Javier; Reyes, Edgardo; Rangel-Gamboa, Lucia

    2018-01-01

    Cutaneous vasculities (CV) represents a diagnostic challenge, occurs as primary cutaneous disorder or as a manifestation of other entities. To search the cause of CV. Methods: Patients with CV were prospectively evaluated. In all patients, skin biopsies were drawn, and direct immunofluorescence was done in most of the patients. American College of Rheumatology (ACR) and Chapel Hill Consensus Conference Criteria (CHCC) were used for classification. 32 patients were studied. There was female predominance (71.8%). Children presented drug-associated CV or Schönlein-Henoch púrpura (SHP). Adults presented more frequently SHP, systemic lupus erythematosus or paraneoplastic vasculitis, other diagnosis as polyarteritis nodosa, microscopic polyangiitis, thrombotic vasculitis (post-puerperal), antiphospholipid syndrome, Churg-Strauss syndrome, and drug-associated CV were presented. Using the ACR and CHCC criteria, 50% of cases were classified. In our institution, during this work the etiologic diagnostic of CV increased more than twice. However, in the case of HSV or LA and SHP none of the proposed criteria had high specificity; other parameters were used to discern between both. Six patients remained as not classified. In our view, cryoglobulins and hepatitis serology do not seem useful unless patient’s history supports they need to be done. Unclassified patients were followed-up closely for 2 years. Copyright: © 2018 SecretarÍa de Salud

  2. Comprehensive immunoproteogenomic analyses of malignant pleural mesothelioma.

    Science.gov (United States)

    Lee, Hyun-Sung; Jang, Hee-Jin; Choi, Jong Min; Zhang, Jun; de Rosen, Veronica Lenge; Wheeler, Thomas M; Lee, Ju-Seog; Tu, Thuydung; Jindra, Peter T; Kerman, Ronald H; Jung, Sung Yun; Kheradmand, Farrah; Sugarbaker, David J; Burt, Bryan M

    2018-04-05

    We generated a comprehensive atlas of the immunologic cellular networks within human malignant pleural mesothelioma (MPM) using mass cytometry. Data-driven analyses of these high-resolution single-cell data identified 2 distinct immunologic subtypes of MPM with vastly different cellular composition, activation states, and immunologic function; mass spectrometry demonstrated differential abundance of MHC-I and -II neopeptides directly identified between these subtypes. The clinical relevance of this immunologic subtyping was investigated with a discriminatory molecular signature derived through comparison of the proteomes and transcriptomes of these 2 immunologic MPM subtypes. This molecular signature, representative of a favorable intratumoral cell network, was independently associated with improved survival in MPM and predicted response to immune checkpoint inhibitors in patients with MPM and melanoma. These data additionally suggest a potentially novel mechanism of response to checkpoint blockade: requirement for high measured abundance of neopeptides in the presence of high expression of MHC proteins specific for these neopeptides.

  3. Chronic leucine supplementation improves glycemic control in etiologically distinct mouse models of obesity and diabetes mellitus

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    Hou Jue

    2010-07-01

    Full Text Available Abstract Background Leucine may function as a signaling molecule to regulate metabolism. We have previously shown that dietary leucine supplementation significantly improves glucose and energy metabolism in diet-induced obese mice, suggesting that leucine supplementation could potentially be a useful adjuvant therapy for obesity and type 2 diabetes. Since the underlying cause for obesity and type 2 diabetes is multifold, we further investigated metabolic effects of leucine supplementation in obese/diabetes mouse models with different etiologies, and explored the underlying molecular mechanisms. Methods Leucine supplementation was carried out in NONcNZO10/LtJ (RCS10 - a polygenic model predisposed to beta cell failure and type 2 diabetes, and in B6.Cg-Ay/J (Ay - a monogenic model for impaired central melanocortin receptor signaling, obesity, and severe insulin resistance. Mice in the treatment group received the drinking water containing 1.5% leucine for up to 8 months; control mice received the tap water. Body weight, body composition, blood HbA1c levels, and plasma glucose and insulin levels were monitored throughout and/or at the end of the study period. Indirect calorimetry, skeletal muscle gene expression, and adipose tissue inflammation were also assessed in Ay mice. Results Leucine supplementation significantly reduced HbA1c levels throughout the study period in both RCS10 and Ay mice. However, the treatment had no long term effect on body weight or adiposity. The improvement in glycemic control was associated with an increased insulin response to food challenge in RCS10 mice and decreased plasma insulin levels in Ay mice. In leucine-treated Ay mice, energy expenditure was increased by ~10% (p y mice whereas the expression levels of MCP-1 and TNF-alpha and macrophage infiltration in adipose tissue were significantly reduced. Conclusions Chronic leucine supplementation significantly improves glycemic control in multiple mouse models of

  4. Rheumatoid arthritis: Recent advances on its etiology, role of cytokines and pharmacotherapy.

    Science.gov (United States)

    Alam, Javaid; Jantan, Ibrahim; Bukhari, Syed Nasir Abbas

    2017-08-01

    An autoimmune disease is defined as a clinical syndrome resulted from an instigation of both T cell and B cell or individually, in the absence of any present infection or any sort of distinguishable cause. Clonal deletion of auto reactive cells remains the central canon of immunology for decades, keeping the role of T cell and B cell aside, which are actually the guards to recognize the entry of foreign body. According to NIH, 23.5 million Americans are all together affected by these diseases. They are rare, but with the exception of RA. Rheumatoid arthritis is chronic and systemic autoimmune response to the multiple joints with unknown ethology, progressive disability, systemic complications, early death and high socioeconomic costs. Its ancient disease with an old history found in North American tribes since 1500 BCE, but its etiology is yet to be explored. Current conventional and biological therapies used for RA are not fulfilling the need of the patients but give only partial responses. There is a lack of consistent and liable biomarkers of prognosis therapeutic response, and toxicity. Rheumatoid arthritis is characterized by hyperplasic synovium, production of cytokines, chemokines, autoantibodies like rheumatoid factor (RF) and anticitrullinated protein antibody (ACPA), osteoclastogensis, angiogenesis and systemic consequences like cardiovascular, pulmonary, psychological, and skeletal disorders. Cytokines, a diverse group of polypeptides, play critical role in the pathogenesis of RA. Their involvement in autoimmune diseases is a rapidly growing area of biological and clinical research. Among the proinflammatory cytokines, IL-1α/β and TNF-α trigger the intracellular molecular signalling pathway responsible for the pathogenesis of RA that leads to the activation of mesenchymal cell, recruitment of innate and adaptive immune system cells, activation of synoviocytes which in term activates various mediators including tumour necrosis factor-alpha (TNF

  5. Enigma of urethral pain syndrome: why are there so many ascribed etiologies and therapeutic approaches?

    Science.gov (United States)

    Phillip, Harris; Okewole, Idris; Chilaka, Victor

    2014-06-01

    Urethral pain syndrome has had several sobriquets, which have led to much confusion over the existence of this pathological condition and the useful options in the care of the afflicted patient. Our aim was to explore the proposed etiologies of this syndrome, and to provide a critical analysis of each proposed etiology and present a balanced argument on the plausibility of the proposed etiology and therapeutic approaches. We carried out an English language electronic search in the following databases: Medline, Embase, Amed, Cinahl, Pubmed, Cochrane Library, Trip Database and SUMSearch using the following search terms: urethral syndrome, urethral diseases, urethra, urologic diseases etiology/etiology, presentation, treatment, outcome, therapeutics and treatment from 1951 to 2011. In excess of 200 articles were recovered. With the clearly defined objectives of analyzing the proposed etiologies and therapeutic regimes, two author(s) (HP and IO) perused the abstracts of all the recovered articles, selecting those that addressed the etiologies and therapeutic approaches to treating the urethral pain syndrome. The number of articles was reduced to 25. The full text of all 25 articles were retrieved and reviewed. Through the present article, we hope to elucidate the most probable etiology of this condition whilst simultaneously, advance a logical explanation for the apparent success in the treatment of this condition using a range of different therapeutic modalities. We have carried out a narrative review, which we hope will reduce some of the confusion around this clinical entity by combining the known facts about the disease. © 2014 The Japanese Urological Association.

  6. Progress in etiology, diagnosis, and therapy of idiopathic orbital inflammatory disease

    NARCIS (Netherlands)

    Bijlsma, W.R.

    2011-01-01

    Idiopathic orbital inflammation (IOI) is a disease with signs and symptoms of an orbital inflammatory lesion with after local and systemic evaluation no apparent cause. Little is known about the etiology of the disease. This study aimed to answer three questions: a) what etiologic factors are

  7. The etiology of mathematical and reading (dis)ability covariation in a sample of Dutch twins

    NARCIS (Netherlands)

    Markowitz, E.M.; Willemsen, A.H.M.; Trumbetta, S.L.; van Beijsterveldt, C.E.M.; Boomsma, D.I.

    2005-01-01

    The genetic etiology of mathematical and reading (dis)ability has been studied in a number of distinct samples, but the true nature of the relationship between the two remains unclear. Data from the Netherlands Twin Register was used to determine the etiology of the relationship between mathematical

  8. Bayesian Estimation of Pneumonia Etiology: Epidemiologic Considerations and Applications to the Pneumonia Etiology Research for Child Health Study.

    Science.gov (United States)

    Deloria Knoll, Maria; Fu, Wei; Shi, Qiyuan; Prosperi, Christine; Wu, Zhenke; Hammitt, Laura L; Feikin, Daniel R; Baggett, Henry C; Howie, Stephen R C; Scott, J Anthony G; Murdoch, David R; Madhi, Shabir A; Thea, Donald M; Brooks, W Abdullah; Kotloff, Karen L; Li, Mengying; Park, Daniel E; Lin, Wenyi; Levine, Orin S; O'Brien, Katherine L; Zeger, Scott L

    2017-06-15

    In pneumonia, specimens are rarely obtained directly from the infection site, the lung, so the pathogen causing infection is determined indirectly from multiple tests on peripheral clinical specimens, which may have imperfect and uncertain sensitivity and specificity, so inference about the cause is complex. Analytic approaches have included expert review of case-only results, case-control logistic regression, latent class analysis, and attributable fraction, but each has serious limitations and none naturally integrate multiple test results. The Pneumonia Etiology Research for Child Health (PERCH) study required an analytic solution appropriate for a case-control design that could incorporate evidence from multiple specimens from cases and controls and that accounted for measurement error. We describe a Bayesian integrated approach we developed that combined and extended elements of attributable fraction and latent class analyses to meet some of these challenges and illustrate the advantage it confers regarding the challenges identified for other methods. © The Author 2017. Published by Oxford University Press for the Infectious Diseases Society of America.

  9. Viral etiology and clinical profiles of children with severe acute respiratory infections in China.

    Directory of Open Access Journals (Sweden)

    Chen Zhang

    Full Text Available No comprehensive analysis is available on the viral etiology and clinical characterization among children with severe acute respiratory infection (SARI in China during 2009 H1N1 pandemic and post-pandemic period.Cohort of 370 hospitalized children (1 to 72 months with SARI from May 2008 to March 2010 was enrolled in this study. Nasopharyngeal aspirate (NPA specimens were tested by a commercial assay for 18 respiratory viral targets. The viral distribution and its association with clinical character were statistically analyzed.Viral pathogen was detected in 350 (94.29% of children with SARI. Overall, the most popular viruses were: enterovirus/rhinovirus (EV/RV (54.05%, respiratory syncytial virus (RSV (51.08%, human bocavirus (BoCA (33.78%, human parainfluenzaviruse type 3 (PIV3 (15.41%, and adenovirus (ADV (12.97%. Pandemic H1N1 was the dominant influenza virus (IFV but was only detected in 20 (5.41% of children. Moreover, detection rate of RSV and human metapneumovirus (hMPV among suburb participants were significantly higher than that of urban area (P<0.05. Incidence of VSARI among suburb participants was also significant higher, especially among those of 24 to 59 months group (P<0.05.Piconaviruses (EV/RV and paramyxoviruses are the most popular viral pathogens among children with SARI in this study. RSV and hMPV significantly increase the risk of SARI, especially in children younger than 24 months. Higher incidence of VSARI and more susceptibilities to RSV and hMPV infections were found in suburban patients.

  10. [Analysis of etiological factors involved in noncarious cervical lesions].

    Science.gov (United States)

    Tomasik, Małgorzata

    2006-01-01

    The etiopathology of noncarious cervical lesions (NCCL) is multifactorial and still not fully understood. Tooth wear is defined as loss of dental hard tissue by a chemical or mechanical process that does not involve bacteria. This form of tooth surface loss includes attrition, abrasion, erosion, and abfraction. Noncarious cervical lesions represent loss of tooth structure at the cementoenamel junction. The purpose of this clinical study of NCCL was to analyze the etiology in relation to age and to identify the most important risk factors associated with cervical lesions, as well as patients and teeth more susceptible to NCCL with a focus on more effective treatment of this condition. The study group comprised 124 patients with NCCL, aged 15-75 years (mean = 44). A questionnaire was distributed addressing medical history--gastric disorders, dietary habits--consumption of acidic drinks, dental history, oral hygiene practices, and parafunctional habits. Clinical examination of tooth wear was performed on four tooth surfaces after air-drying. The distribution and severity of tooth wear was graded using the tooth wear index (TWI) calculated with a computer programme allowing for tooth characteristic to be determined for each decade of life. Depth of the cervical defect was measured with a periodontal probe. TWI was devised to reveal the extent of tooth surface wear irrespective of the cause. Raw scores were compared with the computer using predetermined threshold values which are set to distinguish between acceptable and unacceptable pathological levels of tooth wear for each decade of life and each tooth surface. Dentition status, oral hygiene, periodontal status, gingival recession, number of teeth and their mobility, oral symptoms of parafunction and relationship to lateral and protrusive tooth contact schemes was assessed and analyzed. Statistical analyses were performed with the Stata Statistical Software: release 5. The risk of NCCL formation was estimated with

  11. Prevalence, etiological factors and the treatment of infant exogenous obesity

    Directory of Open Access Journals (Sweden)

    Edio Luiz Petroski

    2003-06-01

    Full Text Available In the last few years, there has been considerable interest in the effects of excessive weight gain during childhood, due to the fact that the development of fat tissue in this period is a determinant of adult body composition. The objective of this study was to investigate the prevalence of infant obesity, to identify possible etiological factors, and to highlight treatments that have been used to reduce and/or prevent child obesity. Results have shown that obesity has increased more than any other nutritional problem in both developed and developing countries over the last decade. Etiological factors linked to childhood obesity were early weaning, introduction of inadequate nutrition, and physical inactivity. The treatment of childhood obesity requires a multidisciplinary team consisting of a doctor, nutritionist, psychologist, and physical educator. There are also some general recommendations to be followed: a balanced diet for adequate growth and weight control, and controlled physical exercise together with individual and family emotional support. Parental cooperation is important for the best results. Schools also have a fundamental role in teaching children positive attitudes and behavior towards physical activity and nutrition. RESUMO Nos últimos anos, o interesse sobre os efeitos do ganho de peso excessivo na infância tem aumentado consideravelmente, devido ao fato que o desenvolvimento da celularidade adiposa neste período ser determinante nos padrões de composição corporal de um indivíduo adulto. Este trabalho teve como objetivo investigar a prevalência da obesidade infantil, identificar os possíveis fatores etiológicos além de verifi car quais as intervenções que se destacaram nesta última década como forma de diminuir e/ou prevenir a obesidade em crianças. Os resultados encontrados foram que a obesidade é uma das enfermidades nutricionais que mais têm apresentado aumento de sua prevalência, tanto nos pa

  12. A genetic variant near GATA3 implicated in inherited susceptibility and etiology of benign prostatic hyperplasia (BPH) and lower urinary tract symptoms (LUTS).

    Science.gov (United States)

    Na, Rong; Helfand, Brian T; Chen, Haitao; Conran, Carly A; Crawford, Susan E; Hayward, Simon W; Tammela, Teuvo L J; Hoffman-Bolton, Judy; Zheng, Siqun L; Walsh, Patrick C; Schleutker, Johanna; Platz, Elizabeth A; Isaacs, William B; Xu, Jianfeng

    2017-08-01

    Benign prostatic hyperplasia (BPH) and associated lower urinary tract symptoms (LUTS) are common conditions. Little is known about their etiologies except that studies have suggested a substantial heritable component. Our objective is to provide a comprehensive, genome-wide evaluation of inherited risks and possible mechanisms of etiology in BPH. We performed a three-stage, genome-wide association study (GWAS) of men from three independent populations, the REduction by DUtasteride of prostate Cancer Events (REDUCE) trial, the CLUE II cohort, and a Finnish hospital-based population. DNA samples were genotyped using the Illumina HumanOmniExpress BeadChip in REDUCE and CLUE II, and using the Sequenom iPLEX system for the confirmation stage in the Finnish population. A logistic regression model was used to evaluate the association between each SNP and BPH/LUTS. Fourteen SNPs reached P BPH pathogenesis and progression. Rs17144046 located near GATA3 was significantly associated with BPH/LUTS in three independent populations, but did not reach a stringent GWAS significance level. Genetic variants of GATA3 may play a role in the inherited susceptibility and etiology of BPH/LUTS. Further research in this area is needed. © 2017 Wiley Periodicals, Inc.

  13. A comprehensive molecular phylogeny for the hornbills (Aves: Bucerotidae).

    Science.gov (United States)

    Gonzalez, Juan-Carlos T; Sheldon, Ben C; Collar, Nigel J; Tobias, Joseph A

    2013-05-01

    The hornbills comprise a group of morphologically and behaviorally distinct Palaeotropical bird species that feature prominently in studies of ecology and conservation biology. Although the monophyly of hornbills is well established, previous phylogenetic hypotheses were based solely on mtDNA and limited sampling of species diversity. We used parsimony, maximum likelihood and Bayesian methods to reconstruct relationships among all 61 extant hornbill species, based on nuclear and mtDNA gene sequences extracted largely from historical samples. The resulting phylogenetic trees closely match vocal variation across the family but conflict with current taxonomic treatments. In particular, they highlight a new arrangement for the six major clades of hornbills and reveal that three groups traditionally treated as genera (Tockus, Aceros, Penelopides) are non-monophyletic. In addition, two other genera (Anthracoceros, Ocyceros) were non-monophyletic in the mtDNA gene tree. Our findings resolve some longstanding problems in hornbill systematics, including the placement of 'Penelopides exharatus' (embedded in Aceros) and 'Tockus hartlaubi' (sister to Tropicranus albocristatus). We also confirm that an Asiatic lineage (Berenicornis) is sister to a trio of Afrotropical genera (Tropicranus [including 'Tockus hartlaubi'], Ceratogymna, Bycanistes). We present a summary phylogeny as a robust basis for further studies of hornbill ecology, evolution and historical biogeography. Copyright © 2013. Published by Elsevier Inc.

  14. Pouchitis – What’s new in etiology and management

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    R John Nicholls

    1995-01-01

    Full Text Available Pouchitis requires a clear clinicopathological definition. There are many conflicting data concerning etiology. It is linked to an initial diagnosis of ulcerative colitis by clinical association and occurrence of extra-alimentary manifestations, histologically and by macrophage types and inflammatory mediators. Evidence for a bacteriological cause comes from response to metronidazole, increased counts of intramucosal bacteria in pouchitis and the possible association of hypochlorhydria. Most studies have, however, shown no specific bacterial pathogen or luminal bacterial count differences in pouches with or without pouchitis. Abnormal fecal bile salt concentrations have been reported. Stasis and evacuation efficiency of the pouch are not associated with pouchitis in most studies. Reduced mucosal bloodflow may be associated perhaps leading to increased permeability to toxins causing activation of interleukin-1, platelet-activating factor (PAF and tumour necrosis factor (TNF. PAF may be increased in pouchitis. Pouchitis may respond to allopurinol. Volatile short chain fatty acids (VSFA may be reduced in ileal reservoirs compared with straight ileoanal segments and in pouchitis. The response of pouchitis to administered VSFA is, however, variable. Glutamine administration may help. There is evidence that intraepithelial T lymphocytes are reduced. Crypt cell turnover is higher in colitic than in polypotic pouches. Mucosal morphological changes of villous atrophy and inflammation occur early after relapsing polychondritis and may predict future susceptibility to pouchitis. Early mucosal biopsy appears to have prognostic value. Metronidazole and antibiotics (amoxicillin/potassium clavulanate, ciprofloxacin may be effective although in a controlled trial of the former there was little advantage over placebo. The results of treatment using VSFA, glutamine, allopurinol sucralfate and anti-inflammatory agents, including aminosalicylic acid (5-ASA and

  15. CONFLICT AS A SOURCE ETIOLOGY PATHOLOGY IN ORGANIZATION

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    Ewa Mazanowska

    2015-03-01

    Full Text Available The slightest conflict resulting in the organization is able to bring quite a lot of human energy and effort, cause all kinds of damage not only material but also moral or social. In a modern economy based on knowledge, possession by management, although the basic knowledge about the sources of the origin of the conflict, holistic course and how to solve should be an essential link for the proper functioning of the company. The ability to recognize the signals of conflicts arising in the workplace, may allow for accurate diagnosis supervisor of the substrate and the immediate reaction towards their elimination. Topics addressed in the publication relates, inter alia, the nature and object of the conflict. The study verified the plane of its creation. It also discusses the process of conflict situations-interactions on human behaviour within the company. Bearing in mind that the conflict causes a lot of negative socio-economic, this article is a contribution to the debate on the degree of its occurrence in the organization. The main aim of this article is to find confirmation of the thesis that the conflict is the etiology of problems in interpersonal relations in the company thereby causing undesirable pathological phenomena, causing disorganization in the functioning of the entire organizational structure. In order to achieve that objective formulated analysed the existing literature on the subject, are examples of the increasing conflicts and their consequences. The author on the basis of the foregoing attempts to identify the problem and assess its negative impact on the organization. As a result of these activities were used by individual cases.

  16. Most important etiologic factors in the development of genital prolapse

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    Mladenović-Segedi Ljiljana

    2010-01-01

    Full Text Available Introduction The incidence of genital prolapse depends on numerous factors. The contribution of race, gender and genetic factors is significant. However, additional factors of initiation, promotion and decomposition are necessary if a person with the genetic predisposition to genital prolapse begins to suffer from it. At least 50% of parous women are believed to suffer from genital prolapse of various degrees. Moreover, the prevalence of genital prolapse increases with age. The prevalence of genital prolapse is expected to be even higher in the future due to the extension of the lifespan of women worldwide. Objective The aim of this study was to determine the most common etiologic factors in the development of genital prolapse in the population of Serbia. Methods The study was conducted as prospective and included 50 women who underwent surgical treatment due to the problems caused by genital prolapse. Results Mean age of the women was 58.74 years. Twenty percent of the women had the menstrual cycle, while 80% were in menopause. Mean menopause period was 8.88 years. None of the women used hormone replacement therapy. Mean BMI was 27.395 kg/m2. Twenty-eight percent of the women were of normal weight, while 72% of the women were obese (42% were obese and 30% were severely obese. Ninety-eight percent of the women were parous, and mean parity was 2.08. Mean birth weight of neonates was 3682.77 g. Sixty-four percent of the women did physical labour and lifted heavy objects. Conclusion Vaginal childbirth is one of the most important initiating factors. The most significant promoting factor is obesity and heavy labour. Ageing and entering menopause are the most important factors of decomposition as well as the occurrence of clinical manifestations of the pelvic floor dysfunction. .

  17. Congenital hypothyroidism: etiology and growth-development outcome.

    Science.gov (United States)

    Dalili, Setila; Rezvani, Seyed Mahmood; Dalili, Hossein; Mohtasham Amiri, Zahra; Mohammadi, Hamid; Abrisham Kesh, Sahar; Novin, Mohammad Hassan; Medghalchi, Abdolreza; Gholamnezhad, Hajar

    2014-01-01

    One of the most preventable causes of mental and growth retardation is congenital hypothyroidism (CH). This study tries to investigate growth and mental outcome of patients with CH. Since November 2006 and November 2007 in Guilan province, north of Iran, all neonates who were diagnosed with CH, evaluated for etiology of CH by laboratory follow up, thyroid sonography or scan. Growth and development of patients with CH were compared with healthy children in same age, geographical area, social and economical classes in four years old. Demographic characteristics including height, weight, and head circumference at birth, follow up time (four years old) and IQ (Good enough test) were recorded in questionnaires. Among 28904 screened neonates, 37 patients with CH were diagnosed. Incidence of CH was 1:781 in live births, 20 (54%) in female neonates and 17 (46%) in male neonates. The incidences of permanent and transient hypothyroidism were 43.2% (16 cases) and 56. 8% (21 cases) respectively. The incidence of permanent and transient hypothyroidism were 16 (43.2%) and 21 (56, 8%), respectively. In permanent CH, 11 cases (%.68.2) had dyshormonogenesis and 5 cases (%.31.2) had thyroid dysgenesis. Significant statistical difference was only in family history of thyroid disease (34, 3% Positive family history in CH vs. 13.2% in control group, P-value 0.03). All other demographic characteristics and IQ had no statistical difference. Patients with CH diagnosed through neonatal screening and treated had normal growth as general population that indicates effective screening program and treatment in this area (3.2%).

  18. Multifactorial etiology of Torus mandibularis: study of twins.

    Science.gov (United States)

    Auškalnis, Adomas; Rutkūnas, Vygandas; Bernhardt, Olaf; Šidlauskas, Mantas; Šalomskienė, Loreta; Basevičienė, Nomeda

    2015-01-01

    The aim of this study is to investigate the multifactorial etiology of mandibular tori analyzing the influence of genetics, occlusal overload, various clinical variables and their interactions. Overall, plaster casts of 162 twins (81 twin pairs) were analyzed for the presence or absence of mandibular tori. Atypical wear facets on canine tips or incisors were recorded to diagnose bruxism. Angle Class, any kind of anterior open bite and positive, negative or flat curve of Wilson were recorded. Zygosity determination was carried out using a DNA test. Mandibular tori were found in 56.8% of the cases. In 93.6% of all monozygotic twin pairs both individuals had or did not have mandibular tori (κ=0.96±0.04; p<0.001), compared to 79.4% concordance of mandibular tori in dizygotic co-twins (κ=0.7±0.12; p<0.001). Prevalence of mandibular tori was significantly higher in the group of bruxers (67.5%) compared to non-bruxers (31.3%) (p<0.001). Significant association between mandibular tori and negative or flat curve of Wilson in the maxillary second premolars and first molars was found (OR=2.55, 95% CI (1.19-5.46), p=0.016). In all monozygotic bruxers, 97.1% showed concordance of mandibular tori presence in both co-twins compared to 78.9% dizygotic bruxers, and this difference is statistically significant (p=0.007). Our results suggest that the mandibular tori are of a multifactorial origin. Mandibular tori seem to have genetic predisposition, and may be associated with teeth grinding as well as with negative or flat CW in region of maxillary second premolar and first molar.

  19. Opiate addiction in Republic of Srpska: Characteristics and etiology

    Directory of Open Access Journals (Sweden)

    Niškanović Jelena

    2013-01-01

    Full Text Available Opiate addiction is a significant social and health problem with a negative impact on individuals' health and their social environment. The aim of this paper is to analyze the characteristics of opiate addicts in order to determine the social and contextual factors underlying the development of addiction. All health care facilities and therapeutic communities which provide care and help addicts are required to fill in the Form of treated addicts. The analysis included people who sought treatment during the period from 25th November 2010 to 21st May 2013 in health care facilities and associations for substance abuse treatment in the Republic of Srpska. The majority of treated addicts belong to opiate addiction (N= 241: 91%. Opiate addicts are mostly males (88.8%, while 11.2% of treated opiate addicts are female. The highest percentage of opiate addicts live in urban areas (86.7%, have secondary education (73.4%, 63.3% are unemployed, while 70.5% live with primary family. Predominant etiologic factor for the development of addiction is peer or partner pressure (29%, pathology of the family as family breakdown or alcoholism (19.3%, while on the third place is low self control (16.8%. For 19.1% of opiate addicts, delinquent behavior started before taking any drugs. The presented data confirms the importance of social environment, like low family control and presence of family pathology. The mentioned factors in combination with negative peer pressure can lead to risky behavior and potential addiction.

  20. Differentiation of etiologic agents of bacterial keratitis from presentation characteristics.

    Science.gov (United States)

    Mascarenhas, Jeena; Srinivasan, Muthiah; Chen, Michael; Rajaraman, Revathi; Ravindran, Meenakshi; Lalitha, Prajna; Oldenburg, Catherine E; Ray, Kathryn J; Glidden, David V; Costanza, Stephanie; Lietman, Thomas M; Acharya, Nisha R

    2012-12-01

    Presenting characteristics of bacterial corneal ulcers may suggest particular causative organisms, helping to guide treatment decisions before cultures become available. In this study, we analyze the association between presentation demographic and clinical characteristics, using data collected as part of a randomized, controlled clinical trial. Data for this study were collected as part of the Steroids for Corneal Ulcers Trial, a randomized, placebo-controlled, double-masked trial. All patients had a culture-proven bacterial corneal ulcer. Patient history, clinical examination, and photography were performed in a standardized fashion at enrollment. Analysis of variance or Fisher's exact test was used to compare characteristics by organism. Univariate logistic regression was used to analyze predictors of the most common organisms. Five hundred patients were enrolled in the trial, of whom 488 were included in this analysis. The most common organism was Streptococcus pneumoniae (N = 248, 51 %) followed by Pseudomonas aeruginosa (N = 110, 23 %). Compared to other organisms, P. aeruginosa was significantly associated with a larger baseline infiltrate/scar size [odds ratio (OR) 1.6, 95 % confidence interval (CI) 1.4-1.8] and deeper infiltrate (OR 2.4, 95 % CI 1.5-3.8). S. pneumoniae was significantly associated with a smaller baseline infiltrate/scar size (OR 0.8, 95 % CI 0.7-0.9) and dacryocystitis (OR 7.3, 95 % CI 4.1-13.3). Nocardia spp. were significantly associated with longer duration of symptoms prior to presentation (OR 1.4, 95 % CI 1.2-1.6), more shallow infiltrate (OR 0.3, 95 % CI 0.2-0.5), and better baseline visual acuity (OR 0.4, 95 % CI 0.2-0.65). Staphylococcus spp. were less likely to be central in location (OR 0.16, 95 % CI 0.08-0.3). Baseline characteristics of bacterial ulcers may suggest the likely etiology and guide early management.

  1. Acute confusional state/delirium: An etiological and prognostic evaluation

    Directory of Open Access Journals (Sweden)

    Dheeraj Rai

    2014-01-01

    Full Text Available Introduction: Acute confusional state/delirium is a frequent cause of hospital admission, in the elderly. It is characterized by an acute fluctuating impairment of cognitive functions and inattention. Recognition and prompt treatment is crucial to decrease the morbidity and mortality associated with it. Materials and Methods: In this retrospective study, we determined the etiology and prognostic factors of an acute confusional state. A total of 52 patients of acute confusional state were clinically evaluated. All patients were also subjected to a battery blood biochemical examination, cerebrospinal fluid analysis and neuroimaging. Disability was assessed by using modified Barthel index (MBI. Patients were followed-up for 3 months. Results: The mean age of our cohort was 65.04 ± 10.6 years. 32 (61.5% patients were male. In 33 patients, we were able to identify possible precipitating cause of an acute confusional state. In the rest of the patients results of all the tests were normal. Leukocytosis and hyponatremia were frequent factors associated with delirium. The mean duration of the hospital stay was 10.73 ± 3.6 days (range 5-21 days. Patients with an abnormal work-up (possible precipitating cause had significantly lower mortality, less duration of hospital stay and less severe disability after 3 months. Age, underlying illness, serum creatinine, abnormal neuroimaging and MBI were identified as a significant prognostic indicator. 18 (34.6% of our patients died, of these in 10 patients we could not find a precipitating cause. Conclusion: Patients, in whom a cause was found out, had better prognosis in terms of lesser mortality and the duration of hospital stay.

  2. [Etiology and airway management in children with tracheobronchomalacia].

    Science.gov (United States)

    Yin, Yong; Schonfeld, Tommy; Chen, Tong-xin

    2009-02-01

    To investigate etiology and airway management in children with tracheobronchomalacia. Bronchoscopic examinations were performed in 671 children. The cases with tracheomalacia and bronchomalacia were analyzed in etiopathogenesis and summarized their therapy simultaneously. Bronchoscopic examination indicated tracheomalacia and bronchomalacia in 148 cases, tracheomalacia in 77 cases and bronchomalacia in 71 cases. Among the cases with tracheomalacia, compression by vascular rings was found in 46 cases, incorporated congenital esophageal atresia with tracheoesophageal fistula was found in 5 cases, tracheomalacia was associated with tracheostoma and mechanical ventilation in 6 cases, with congenital airway malformation in 11 cases and isolated tracheomalacia was found in 4 cases. Among the cases with bronchomalacia, incorporated congenital cardiovascular malformation was found in 64 cases, congenital airway malformation in 6 cases and isolated bronchomalacia in 1 case. Ten children with anomalous innominate artery underwent aortopexy, twelve children with dextro-aorta arch with concomitant aberrant left subclavian artery and double aorta underwent arches vascular ring lysis, six children with pulmonary sling underwent plasty. Severe malacia segments were resected directly in four children during operation. Mechanical ventilation was performed in 38 children. Tracheostoma was performed in 4 children to treat tracheomalacia and bronchomalacia, it could relieve symptom to a certain extent. In 2 children metal stents were inserted into the bronchus for the treatment of bronchomalacia, one was successful and the other needed re-insertion of stent again, these two patients underwent balloon-dilatation in distal part of stent afterwards. The congenital cardiovascular malformation was the main reason to develop tracheobronchomalacia in children. The symptom of majority of the cases with cardiovascular malformation would be improved within 6 months after surgical intervention

  3. Vestibular Function in Adults With Epilepsy of Unknown Etiology.

    Science.gov (United States)

    Hamed, Sherifa A; Tohamy, Amal M; Oseilly, Amira M

    2017-09-01

    This study aimed to evaluate vestibular function in adults with chronic epilepsy of unknown etiology in the inter-ictal period. Epilepsy is a chronic medical disorder. Life-long therapy may be required in one-third of patients. Epilepsy is associated with comorbid somatic conditions which impairs patients' quality of life. This cross-sectional study included 28 with generalized tonic clonic (GTC) convulsions and 14 and 3 with temporal (TLE) and frontal lobe (FLE) epilepsies with secondary generalization (all were on regular carbamazepine therapy) and 40 healthy control subjects. The patients' mean age was 34.97 ± 7.35 years and the duration of illness was 18.75 ± 7.99 years. All underwent videonystagmography (VNG). Compared with controls, patients had frequent vestibular symptoms including dizziness (62.22%) (p = 0.0001) and sense of imbalance (44.44%) (p = 0.0001). Eleven patients (24.44%) had central vestibular dysfunction (p = 0.0001); 9 (20%) had mixed vestibular dysfunction and one (2.22%) had peripheral vestibular dysfunction (p = 0.0001). Abnormalities were observed in saccadic (44.4%) and pursuit (42.2%) eye movements, optokinetic nystagmus (42.2%) and positioning/positional (11.11%) and caloric (13.33%) testing. TLE and FLE were associated with more VNG abnormalities than GTC. No significant differences were observed in the demographic and clinical characteristics between patients with and without VNG abnormalities. Vestibular manifestations are frequent in patients with epilepsy. This may be a result of the permanent damaging effect of chronic epilepsy on the vestibular cortical areas and/or a toxic effect from prolonged carbamazepine therapy on the peripheral and central vestibular systems.

  4. Fulminant hepatic failure in children: Etiology, histopathology and MDCT findings

    Energy Technology Data Exchange (ETDEWEB)

    Cakir, Banu [Baskent University Faculty of Medicine Department of Radiology, Fevzi Cakmak Cd. 10, Sok. No: 45, Bahcelievler, Ankara 06490 (Turkey)], E-mail: banutopcu@yahoo.com; Kirbas, Ismail [Baskent University Faculty of Medicine Department of Radiology, Fevzi Cakmak Cd. 10, Sok. No: 45, Bahcelievler, Ankara 06490 (Turkey)], E-mail: drismailk@yahoo.com; Demirhan, Beyhan [Baskent University Faculty of Medicine Department of Pathology, Fevzi Cakmak Cd. 10, Sok. No: 45, Bahcelievler, Ankara 06490 (Turkey)], E-mail: beyhand@baskent-ank.edu.tr; Tarhan, Nefise Cagla [Baskent University Faculty of Medicine Department of Radiology, Fevzi Cakmak Cd. 10, Sok. No: 45, Bahcelievler, Ankara 06490 (Turkey)], E-mail: caglat@gmail.com; Bozkurt, Alper [Baskent University Faculty of Medicine Department of Radiology, Fevzi Cakmak Cd. 10, Sok. No: 45, Bahcelievler, Ankara 06490 (Turkey)], E-mail: abozkurt78@hotmail.com; Ozcay, Figen [Baskent University Faculty of Medicine Department of Pediatric Gastroenterology, Fevzi Cakmak Cd. 10, Sok. No: 45, Bahcelievler, Ankara 06490 (Turkey)], E-mail: fozcay@baskent.edu.tr; Coskun, Mehmet [Baskent University Faculty of Medicine Department of Radiology, Fevzi Cakmak Cd. 10, Sok. No: 45, Bahcelievler, Ankara 06490 (Turkey)], E-mail: mcoskun@baskent-ank.edu.tr

    2009-11-15

    Introduction: The purpose of this study is to determine the etiologies, histopathology and MDCT findings of children with fulminant hepatic failure admitted to our institution. Materials and methods: Between June 2004 and November 2006, 15 children with fulminant hepatic failure who underwent MDCT were included retrospectively in this study. Twelve patients had liver biopsies. The patients were divided into three groups as hyperacute (Group I), acute (Group II) and subacute (Group III) depending on onset of hepatic encephalopathy. Results: Hepatitis A in 4 patients, non-A, non-E hepatitis in 4; mushroom poisoning in 3; fulminant Wilson's disease in 2; autoimmune hepatitis in 1; and both hepatitis B and toxic hepatitis (with leflunomide treatment) in 1 patient were detected. MDCT of all three groups revealed diffuse reduction in hepatic attenuation in 11 patients; ascites in 9; periportal edema in 6; edema of gallbladder wall in 6; splenomegaly in 6; heterogeneous hepatic parenchyma in 6; hepatomegaly in 3; irregular contours of liver in 2; multiple micronodules in 1 and necrotic areas and regeneration in liver parenchyma in 2 patients. Histopathologic evaluation of liver biopsies showed massive hepatic necrosis, inflammatory cell infiltration and ductular proliferation in 8 patients, periportal edema in 6, edema of gallbladder wall in 5, regenerating nodules and fibrous septa consistent with cirrhotic pattern in 2, and regenerating nodules and necrotic areas in 2 patients. Conclusion: The most common MDCT findings in fulminant hepatic failure were diffuse reduction in hepatic attenuation and ascites. Massive hepatic necrosis was the most common histopathologic finding.

  5. A Comprehensive Characterization of Microorganisms and Allergens in Spacecraft Environment

    Science.gov (United States)

    Castro, V.A.; Ott, C.M.; Garcia, V.M.; John, J.; Buttner, M.P.; Cruz, P.; Pierson, D.L.

    2009-01-01

    The determination of risk from infectious disease during long-duration missions is composed of several factors including the concentration and the characteristics of the infectious agent. Thus, a thorough knowledge of the microorganisms aboard spacecraft is essential in mitigating infectious disease risk to the crew. While stringent steps are taken to minimize the transfer of potential pathogens to spacecraft, several medically significant organisms have been isolated from both the Mir and International Space Station (ISS). Historically, the method for isolation and identification of microorganisms from spacecraft environmental samples depended upon their growth on culture media. Unfortunately, only a fraction of the organisms may grow on a culture medium, potentially omitting those microorganisms whose nutritional and physical requirements for growth are not met. Thus, several pathogens may not have been detected, such as Legionella pneumophila, the etiological agent of Legionnaire s disease. We hypothesize that environmental analysis using non-culture-based technologies will reveal microorganisms, allergens, and microbial toxins not previously reported in spacecraft, allowing for a more complete health assessment. The development of techniques for this flight experiment, operationally named SWAB, has already provided advances in NASA laboratory processes and beneficial information toward human health risk assessment. The translation of 16S ribosomal DNA sequencing for the identification of bacteria from the SWAB experiment to nominal operations has increased bacterial speciation of environmental isolates from previous flights three fold compared to previous conventional methodology. The incorporation of molecular-based DNA fingerprinting using repetitive sequence-based polymerase chain reaction (rep-PCR) into the capabilities of the laboratory has provided a methodology to track microorganisms between crewmembers and their environment. Both 16S ribosomal DNA

  6. Magnetismo Molecular (Molecular Magentism)

    Energy Technology Data Exchange (ETDEWEB)

    Reis, Mario S [Universidade Federal Fluminense, Brasil; Moreira Dos Santos, Antonio F [ORNL

    2010-07-01

    The new synthesis processes in chemistry open a new world of research, new and surprising materials never before found in nature can now be synthesized and, as a wonderful result, observed a series of physical phenomena never before imagined. Among these are many new materials the molecular magnets, the subject of this book and magnetic properties that are often reflections of the quantum behavior of these materials. Aside from the wonderful experience of exploring something new, the theoretical models that describe the behavior these magnetic materials are, in most cases, soluble analytically, which allows us to know in detail the physical mechanisms governing these materials. Still, the academic interest in parallel this subject, these materials have a number of properties that are promising to be used in technological devices, such as in computers quantum magnetic recording, magnetocaloric effect, spintronics and many other devices. This volume will journey through the world of molecular magnets, from the structural description of these materials to state of the art research.

  7. The 2001 Comprehensive Review

    CERN Multimedia

    Åkesson, T

    A new approach for CERN to monitor the LHC-experiments' technical and scientific progress was introduced last year: The Comprehensive Reviews. A significant fraction of the full LHCC committee is mobilized during two days to review the complete project status. This event took place for ATLAS during 2-3 of July this year. With a rather exhaustive program we presented our status in 39 talks. It was a demanding and close to impossible task for the referees to comprehend the ATLAS status by listening to this massive amount of information, but from the ATLAS point-of-view we judged it important that the referees were exposed to both the progress and the remaining problem areas. The referees were satisfied with our status; probably more so this year than last year. They judged the main critical issues to be: The schedules of the barrel toroid, the end-cap TRT, the LAr barrel and end-cap A, and the MDTs. The procurement of radiation hard electronics was also thought to be a critical issue. They were informed of ...

  8. Comprehensive facilities plan

    Energy Technology Data Exchange (ETDEWEB)

    NONE

    1997-09-01

    The Ernest Orlando Lawrence Berkeley National Laboratory`s Comprehensive Facilities Plan (CFP) document provides analysis and policy guidance for the effective use and orderly future development of land and capital assets at the Berkeley Lab site. The CFP directly supports Berkeley Lab`s role as a multiprogram national laboratory operated by the University of California (UC) for the Department of Energy (DOE). The CFP is revised annually on Berkeley Lab`s Facilities Planning Website. Major revisions are consistent with DOE policy and review guidance. Facilities planing is motivated by the need to develop facilities for DOE programmatic needs; to maintain, replace and rehabilitate existing obsolete facilities; to identify sites for anticipated programmatic growth; and to establish a planning framework in recognition of site amenities and the surrounding community. The CFP presents a concise expression of the policy for the future physical development of the Laboratory, based upon anticipated operational needs of research programs and the environmental setting. It is a product of the ongoing planning processes and is a dynamic information source.

  9. Comprehensive eye evaluation algorithm

    Science.gov (United States)

    Agurto, C.; Nemeth, S.; Zamora, G.; Vahtel, M.; Soliz, P.; Barriga, S.

    2016-03-01

    In recent years, several research groups have developed automatic algorithms to detect diabetic retinopathy (DR) in individuals with diabetes (DM), using digital retinal images. Studies have indicated that diabetics have 1.5 times the annual risk of developing primary open angle glaucoma (POAG) as do people without DM. Moreover, DM patients have 1.8 times the risk for age-related macular degeneration (AMD). Although numerous investigators are developing automatic DR detection algorithms, there have been few successful efforts to create an automatic algorithm that can detect other ocular diseases, such as POAG and AMD. Consequently, our aim in the current study was to develop a comprehensive eye evaluation algorithm that not only detects DR in retinal images, but also automatically identifies glaucoma suspects and AMD by integrating other personal medical information with the retinal features. The proposed system is fully automatic and provides the likelihood of each of the three eye disease. The system was evaluated in two datasets of 104 and 88 diabetic cases. For each eye, we used two non-mydriatic digital color fundus photographs (macula and optic disc centered) and, when available, information about age, duration of diabetes, cataracts, hypertension, gender, and laboratory data. Our results show that the combination of multimodal features can increase the AUC by up to 5%, 7%, and 8% in the detection of AMD, DR, and glaucoma respectively. Marked improvement was achieved when laboratory results were combined with retinal image features.

  10. LipidPioneer : A Comprehensive User-Generated Exact Mass Template for Lipidomics

    Science.gov (United States)

    Ulmer, Candice Z.; Koelmel, Jeremy P.; Ragland, Jared M.; Garrett, Timothy J.; Bowden, John A.

    2017-03-01

    Lipidomics, the comprehensive measurement of lipid species in a biological system, has promising potential in biomarker discovery and disease etiology elucidation. Advances in chromatographic separation, mass spectrometric techniques, and novel substrate applications continue to expand the number of lipid species observed. The total number and type of lipid species detected in a given sample are generally indicative of the sample matrix examined (e.g., serum, plasma, cells, bacteria, tissue, etc.). Current exact mass lipid libraries are static and represent the most commonly analyzed matrices. It is common practice for users to manually curate their own lists of lipid species and adduct masses; however, this process is time-consuming. LipidPioneer, an interactive template, can be used to generate exact masses and molecular formulas of lipid species that may be encountered in the mass spectrometric analysis of lipid profiles. Over 60 lipid classes are present in the LipidPioneer template and include several unique lipid species, such as ether-linked lipids and lipid oxidation products. In the template, users can add any fatty acyl constituents without limitation in the number of carbons or degrees of unsaturation. LipidPioneer accepts naming using the lipid class level (sum composition) and the LIPID MAPS notation for fatty acyl structure level. In addition to lipid identification, user-generated lipid m/z values can be used to develop inclusion lists for targeted fragmentation experiments. Resulting lipid names and m/z values can be imported into software such as MZmine or Compound Discoverer to automate exact mass searching and isotopic pattern matching across experimental data.

  11. Cultural Knowledge in News Comprehension

    DEFF Research Database (Denmark)

    Mathieu, David

    2009-01-01

    This paper presents the main lines of the design and the findings of a reception study on news comprehension. This empirical study is a comparison of the comprehension processes of Danes and French Canadians over a set of news texts from both countries. Comprehension is explored from a cultural...... perspective, through the lens of cognition and pragmatics, revealing the role played by cultural knowledge in comprehension and the underlying relationship between a text and its intended audience. It is argued that recipients ‘problematise’ the news texts, a process by which the texts answer questions...

  12. SITE COMPREHENSIVE LISTING (CERCLIS) (Superfund)

    Data.gov (United States)

    U.S. Environmental Protection Agency — The Comprehensive Environmental Response, Compensation and Liability Information System (CERCLIS) (Superfund) Public Access Database contains a selected set of...

  13. First molecular identification and phylogeny of a Babesia sp. from a symptomatic sow (Sus scrofa Linnaeus 1758).

    Science.gov (United States)

    Zobba, Rosanna; Parpaglia, Maria Luisa Pinna; Spezzigu, Antonio; Pittau, Marco; Alberti, Alberto

    2011-06-01

    Porcine babesiosis is a widespread yet overlooked disease causing economic losses in many regions of the world. To date, the etiological agent of porcine babesiosis has not been molecularly characterized. Here, we provide the first molecular characterization of a piroplasm detected in a symptomatic sow, phylogenetically closely related to the Ungulibabesids. Results pave the way for future molecular epidemiology studies.

  14. Epidemiology of Cerebellar Ataxia on the Etiological Basis: A Cross Sectional Study

    Directory of Open Access Journals (Sweden)

    Simindokht Hosseini Seyede

    2009-12-01

    Full Text Available Cerebellar ataxias are a heterogenous group of disorders, clinically and etiologically, that result in considerable health burden. Finding out about the various etiologies, and their relative prevalences in the population suffering from cerebellar ataxia helps the clinician to perform a better management, in treatment process. This is a cross sectional study designed to estimate the relative prevalence of each etiologic factor. One-hundred and thirty-five patients ,in the range of 6 to 73 years from march 1993 to march1999, were classified in different groups on the basis of etiological findings. Relative prevalence of each of the etiological factors , common accompanying disorders besides ataxia in the patients,CT and MRI changes,and CSF alterations are studied and recorded. A widely spread age group, and the extended number of the cases under study, are the advantages of the current study over the previously reported case series. Among the etiologic groups, multiple sclerosis, cerebrovascular accidents and hereditary cerebellar ataxia, were the most common etiologic factors associated with cerebellar ataxia respectively.

  15. Molecular Mechanism of Gastric Carcinogenesis in Helicobacter pylori-Infected Rodent Models

    Directory of Open Access Journals (Sweden)

    Takeshi Toyoda

    2014-06-01

    Full Text Available Since the discovery of Helicobacter pylori (H. pylori, many efforts have been made to establish animal models for the investigation of the pathological features and molecular mechanisms of gastric carcinogenesis. Among the animal models, Mongolian gerbils and mice are particularly useful for the analysis of H. pylori-associated inflammatory reactions and gastric cancer development. Inhibitors of oxidative stress, cyclooxygenase-2 (COX-2 and nuclear factor-κB, exert preventive effects on chronic gastritis and the development of adenocarcinomas in H. pylori-infected gerbils. Genetically-modified mouse models, including transgenic and knockout mice, have also revealed the importance of p53, COX-2/prostaglandin, Wnt/β-catenin, proinflammatory cytokines, gastrin and type III mucin in the molecular mechanisms of gastric carcinogenesis. Microarray technology is available for comprehensive gene analysis in the gastric mucosa of mouse models, and epigenetics, such as DNA methylation, could be an alternative approach to correlate the observations in animal models with the etiology in humans.

  16. The family structure of the Mucorales: a synoptic revision based on comprehensive multigene-genealogies

    NARCIS (Netherlands)

    Hoffmann, K.; Pawłowska, J.; Walther, G.; Wrzosek, W.; de Hoog, G.S.; Benny, G.L.; Kirk, P.M.; Voigt, K.

    2013-01-01

    The Mucorales (Mucoromycotina) are one of the most ancient groups of fungi comprising ubiquitous, mostly saprotrophic organisms. The first comprehensive molecular studies 11 yr ago revealed the traditional classification scheme, mainly based on morphology, as highly artificial. Since then only

  17. The portal hypertension syndrome: etiology, classification, relevance, and animal models.

    Science.gov (United States)

    Bosch, Jaime; Iwakiri, Yasuko

    2018-02-01

    Portal hypertension is a key complication of portal hypertension, which is responsible for the development of varices, ascites, bleeding, and hepatic encephalopathy, which, in turn, cause a high mortality and requirement for liver transplantation. This review deals with the present day state-of-the-art preventative treatments of portal hypertension in cirrhosis according to disease stage. Two main disease stages are considered, compensated and decompensated cirrhosis, the first having good prognosis and being mostly asymptomatic, and the second being heralded by the appearance of bleeding or non-bleeding complications of portal hypertension. The aim of treatment in compensated cirrhosis is preventing clinical decompensation, the more frequent event being ascites, followed by variceal bleeding and hepatic encephalopathy. Complications are mainly driven by an increase of hepatic vein pressure gradient (HVPG) to values ≥10 mmHg (defining the presence of Clinically Significant Portal Hypertension, CSPH). Before CSPH, the treatment is limited to etiologic treatment of cirrhosis and healthy life style (abstain from alcohol, avoid/correct obesity…). When CSPH is present, association of a non-selective beta-blocker (NSBB), including carvedilol should be considered. NSBBs are mandatory if moderate/large varices are present. Patients should also enter a screening program for hepatocellular carcinoma. In decompensated patients, the goal is to prevent further bleeding if the only manifestation of decompensation was a bleeding episode, but to prevent liver transplantation and death in the common scenario where patients have manifested first non-bleeding complications. Treatment is based on the same principles (healthy life style..) associated with administration of NSBBs in combination if possible with endoscopic band ligation if there has been variceal bleeding, and complemented with simvastatin administration (20-40 mg per day in Child-Pugh A/B, 10-20 mg in Child C

  18. Molecular hematology

    National Research Council Canada - National Science Library

    Provan, Drew; Gribben, John

    2010-01-01

    ... The molecular basis of hemophilia, 219 Paul LF Giangrande 4 The genetics of acute myeloid leukemias, 42 Carolyn J Owen & Jude Fitzgibbon 19 The molecular basis of von Willebrand disease, 233 Luciano Baronc...

  19. Attribution of Mild Cognitive Impairment Etiology in Patients and Their Care-Partners

    Science.gov (United States)

    Rodakowski, Juleen; Schulz, Richard; Gentry, Amanda; Garand, Linda; Lingler, Jennifer Hagerty

    2013-01-01

    Objective This study examined the attribution of MCI etiology assigned by individuals with MCI and their care-partners, and the extent to which the dyads agreed on the attribution of MCI etiology. Methods We conducted secondary analyses of cross-sectional data from a cohort of individuals with MCI (n=60) and their care-partners (n=60). The mean age of the individuals with MCI was 71.0±9.4 and of care-partners 64.2±11.0 years. The primary outcome was attribution assigned to memory deficits on the Illness Perception Questionnaire. We categorized the attribution of MCI etiology as either potentially controllable or uncontrollable factors. We described the distribution of MCI etiology with descriptive and contingency tables. We determined the odds of a patient or care-partner choosing one type of MCI etiology over another. Results Although individuals with MCI and their care-partners most frequently attributed MCI to uncontrollable factors (81.7% and 61.0%, respectively), care-partners were 28.41 [95% CI, 1.26 to 645.48] times more likely to attribute MCI etiology to potentially controllable factors than individuals with MCI. No significant associations between demographic factors and attribution of MCI etiology were found for the individuals with MCI or the care-partners. Conclusion Findings demonstrated that members of the dyad attributed MCI etiology to different causes. Attributions of MCI etiology should be explored by professionals to clarify misconceptions and potentially improve subsequent voluntary actions intended to assist oneself or others. PMID:24123240

  20. Attribution of mild cognitive impairment etiology in patients and their care partners.

    Science.gov (United States)

    Rodakowski, Juleen; Schulz, Richard; Gentry, Amanda; Garand, Linda; Lingler, Jennifer Hagerty

    2014-05-01

    This study examined the attribution of mild cognitive impairment (MCI) etiology assigned by individuals with MCI and their care partners, and the extent to which the dyads agreed on the attribution of MCI etiology. We conducted secondary analyses of cross-sectional data from a cohort of individuals with MCI (n = 60) and their care partners (n = 60). The mean age of the individuals with MCI was 71.0 ± 9.4 years and of care partners 64.2 ± 11.0 years. The primary outcome was attribution assigned to memory deficits on the Illness Perception Questionnaire. We categorized the attribution of MCI etiology as either potentially controllable or uncontrollable factors. We described the distribution of MCI etiology with descriptive and contingency tables. We determined the odds of a patient or care partner choosing one type of MCI etiology over another. Although individuals with MCI and their care partners most frequently attributed MCI to uncontrollable factors (81.7% and 61.0%, respectively), care partners were 28.41 (95% CI, 1.26 to 645.48) times more likely to attribute MCI etiology to potentially controllable factors than individuals with MCI. No significant associations between demographic factors and attribution of MCI etiology were found for the individuals with MCI or the care partners. Findings demonstrated that members of the dyad attributed MCI etiology to different causes. Attributions of MCI etiology should be explored by professionals to clarify misconceptions and potentially improve subsequent voluntary actions intended to assist oneself or others. Copyright © 2013 John Wiley & Sons, Ltd.

  1. Pragmatic Comprehension Development through Telecollaboration

    Science.gov (United States)

    Rafieyan, Vahid; Sharafi-Nejad, Maryam; Khavari, Zahra; Eng, Lin Siew; Mohamed, Abdul Rashid

    2014-01-01

    Pragmatic comprehension can be ideally developed through contact with target language speakers. This contact can be provided in English as Foreign Language contexts through telecollaboration. To test the actual effect of telecollaboration on the development of pragmatic comprehension, 30 Iranian undergraduates of English as a Foreign Language…

  2. Reading comprehension in Parkinson's disease.

    Science.gov (United States)

    Murray, Laura L; Rutledge, Stefanie

    2014-05-01

    Although individuals with Parkinson's disease (PD) self-report reading problems and experience difficulties in cognitive-linguistic functions that support discourse-level reading, prior research has primarily focused on sentence-level processing and auditory comprehension. Accordingly, the authors investigated the presence and nature of reading comprehension in PD, hypothesizing that (a) individuals with PD would display impaired accuracy and/or speed on reading comprehension tests and (b) reading performances would be correlated with cognitive test results. Eleven adults with PD and 9 age- and education-matched control participants completed tests that evaluated reading comprehension; general language and cognitive abilities; and aspects of attention, memory, and executive functioning. The PD group obtained significantly lower scores on several, but not all, reading comprehension, language, and cognitive measures. Memory, language, and disease severity were significantly correlated with reading comprehension for the PD group. Individuals in the early stages of PD without dementia or broad cognitive deficits can display reading comprehension difficulties, particularly for high- versus basic-level reading tasks. These reading difficulties are most closely related to memory, high-level language, and PD symptom severity status. The findings warrant additional research to delineate further the types and nature of reading comprehension impairments experienced by individuals with PD.

  3. Molecular Combing of DNA: Methods and Applications

    DEFF Research Database (Denmark)

    Nazari, Zeniab Esmail; Gurevich, Leonid

    2013-01-01

    studies to nanoelectronics. While molecular combing has been applied in a variety of DNA-related studies, no comprehensive review has been published on different combing methods proposed so far. In this review, the underlying mechanisms of molecular combing of DNA are described followed by discussion...

  4. Viral Etiologies of Acute Respiratory Infections among Hospitalized Vietnamese Children in Ho Chi Minh City, 2004-2008

    NARCIS (Netherlands)

    Anh, Ha Do Lien; van Doorn, H. Rogier; Nghiem, My Ngoc; Bryant, Juliet E.; Hoang, Thanh Hang Thi; Do, Quang Ha; Le van, Tan; Tran, Tan Thanh; Wills, Bridget; van Nguyen, Vinh Chau; Vo, Minh Hien; Vo, Cong Khanh; Nguyen, Minh Dung; Farrar, Jeremy; Tran, Tinh Hien; de Jong, Menno D.

    2011-01-01

    Background: The dominant viral etiologies responsible for acute respiratory infections (ARIs) are poorly understood, particularly among hospitalized children in resource-limited tropical countries where morbidity and mortality caused by ARIs are highest. Improved etiological insight is needed to

  5. Pathophysiology and multifactorial etiology of acquired vasospastic disease (Raynaud syndrome) in vibration-exposed workers.

    Science.gov (United States)

    Gemne, G

    1982-12-01

    The article reviews available pathophysiological evidence for a multifactorial etiology of the Raynaud type of peripheral circulation disorder in persons exposed to vibration from handheld tools and discusses the consequences this viewpoint may have for diagnostics, preventive work, and research.

  6. Incidence of Etiologic Factors in Squamous Cell Carcinoma of Head and Neck in Ahvaz

    Directory of Open Access Journals (Sweden)

    Soheila Nikakhlagh

    2011-01-01

     Conclusion: According to this study, tobacco smoking was the most important etiologic factor and had a strong effect on risk of head and neck squamous cell carcinoma. Other factors are also important and need more research study.

  7. [FEATURES OF CLINICAL COURSE OF INFECTIOUS MONONUCLEOSIS IN CHILDREN DEPENDENT ON ETIOLOGY].

    Science.gov (United States)

    Kharchenko, Iu P; Zarets'ka, A V; Slobodnichenko, L M; Iurchenko, I V

    2015-01-01

    The article highlights the clinical features of infectious mononucleosis in children (based on the analysis of the data for children of different ages treated in Odessa clinical hospital of infectious diseases in connection with infectious mononucleosis) based on etiological factors.

  8. Zoonotic bacterial meningitis in adults: clinical characteristics, etiology, treatment and outcome

    NARCIS (Netherlands)

    van Samkar, A.

    2016-01-01

    In this thesis, we describe the clinical characteristics, etiology, treatment and outcome of zoonotic bacterial meningitis. Each chapter describes meningitis patients infected by a specific zoonotic pathogen, such as Streptococcus equi, Streptococcuis suis, Capnocytophaga canimorsus, Campylobacter

  9. Scoliosis: review of types of curves, etiological theories and conservative treatment.

    Science.gov (United States)

    Shakil, Halima; Iqbal, Zaheen A; Al-Ghadir, Ahmad H

    2014-01-01

    Scoliosis is the deviation in the normal vertical spine. Although there are numerous studies available about treatment approaches for scoliosis, the numbers of studies that talk about its etiology and pathology are limited. Aim of this study was to discuss the different types of scoliosis; its curves and etiological theories; and to note their implication on its treatment. We examined various electronic databases including Pub MED, Medline, Cinhal, Cochrane library and Google scholar using key words "scoliosis", "etiology", "pathology" and "conservative treatment". References of obtained articles were also examined for cross references. The search was limited to articles in English language. A total of 145 papers, about Prevalence, History, Symptoms, classification, Biomechanics, Pathogenesis, Kinematics and Treatment of scoliosis were identified to be relevant. To choose the appropriate treatment approach for scoliosis we need to understand its etiology and pathogenesis first. Early intervention with conservative treatment like physiotherapy and bracing can prevent surgery.

  10. A Systematic Approach to Elucidate Causes of Gastroenteritis Outbreaks of Suspected Viral Etiology

    NARCIS (Netherlands)

    S. Svraka-Latifovic (Sanela)

    2011-01-01

    textabstractThe main objective of this thesis was to investigate the etiology of outbreaks of viral gastroenteritis that remained without diagnosis after testing for common viral pathogens causing gastroenteritis, e.g. noroviruses, rotaviruses, sapoviruses, adenoviruses, and astroviruses. No

  11. The presentation, incidence, etiology, and treatment of surgical site infections after spinal surgery.

    NARCIS (Netherlands)

    Pull ter Gunne, A.F.; Mohamed, A.S.; Skolasky, R.L.; Laarhoven, C.J.H.M. van; Cohen, D.B.

    2010-01-01

    STUDY DESIGN: Descriptive, retrospective cohort analysis. OBJECTIVE: To evaluate the presentation, etiology, and treatment of surgical site infections (SSI) after spinal surgery. SUMMARY OF BACKGROUND DATA: SSI after spine surgery is frequently seen. Small case control studies have been published

  12. Osteoporosis in Сhildren with Itsenko — Cushing Disease: Etiology, Pathogenesis, Diagnosis

    Directory of Open Access Journals (Sweden)

    M.O. Ryznychuk

    2016-03-01

    Full Text Available The review describes the etiology, pathogenetic mechanisms of osteoporosis in children with Itsenko — Cushing syndrome. The new methods for the diagnosis of osteoporosis in children were also analyzed.

  13. ENDOCRINE PATHOLOGY. ETIOLOGY AND PATHOGENESIS OF ENDOCRINOPATHY: DYSFUNCTION OF THYROID AND PARATHYROIND GLANDS

    Directory of Open Access Journals (Sweden)

    P. F. Litvitskii

    2012-01-01

    Full Text Available This lecture deals with etiology, pathogenesis and clinical presentation of thyroid and parathyroid hyper — and hypofunction, adrenal pathology. This lecture is also supplemented with multiple choice tests and a clinical case with keys for self testing.

  14. Gene-Gene and Gene-Environment Interactions in the Etiology of Breast Cancer

    National Research Council Canada - National Science Library

    Adegoke, Olufemi

    2003-01-01

    The objective of this CDA is to evaluate the gene-gene and gene-environment interactions in the etiology of breast cancer in two ongoing case-control studies, the Shanghai Breast Cancer Study (SBCS...

  15. Nickel-induced hypersensitivity: etiology, immune reactions, prevention and therapy.

    Science.gov (United States)

    Hostýnek, Jurij J

    2002-08-01

    As a contact allergen causing type I and type IV hypersensitivity, mediated by reagins and allergen-specific T lymphocytes, expressed in a wide range of cutaneous eruptions following dermal or systemic exposure, nickel has acquired the distinction of being among the most frequent causes of hypersensitivity, occupationally as well as among the general population. In synoptic form the many effects that nickel has on the organism are presented, to provide a comprehensive picture of the aspects of that metal with many biologically noxious, but metallurgically indispensable characteristics. This paper reviews the epidemiology, the prognosis for occupational and non-occupational nickel allergic hypersensitivity (NAH), the many types of exposure and the resulting immune responses, immunotoxicity and rate of diffusion through the skin. Alternatives towards prevention and remediation, topical and systemic, for this pervasive and increasing form of morbidity resulting from multiple types of exposure are discussed. Merits and limitations of preventive measures in industry and private life are considered, as well as the effectiveness of topical and systemic therapy in treating NAH.

  16. Sensitization to nickel: etiology, epidemiology, immune reactions, prevention, and therapy.

    Science.gov (United States)

    Hostynek, Jurij J

    2006-01-01

    Nickel is a contact allergen causing Type I and Type IV hypersensitivity, mediated by reagins and allergen-specific T lymphocytes, expressing in a wide range of cutaneous eruptions following dermal or systemic exposure. As such, nickel is the most frequent cause of hypersensitivity, occupational as well as among the general population. In synoptic form, the many effects that nickel has on the organism are presented to provide a comprehensive picture of the aspects of that metal with many biologically noxious, but metallurgically indispensable characteristics. This paper reviews the epidemiology, the prognosis for occupational and non-occupational nickel allergic hypersensitivity, the types of exposure and resulting immune responses, the rate of diffusion through the skin, and immunotoxicity. Alternatives toward prevention and remediation, topical and systemic, for this pervasive and increasing form of morbidity are discussed. The merits and limitations of preventive measures in industry and private life are considered, as well as the effectiveness of topical and systemic therapy in treating nickel allergic hypersensitivity.

  17. Sex differences in drug abuse: Etiology, prevention, and treatment.

    Science.gov (United States)

    Evans, Suzette M; Reynolds, Brady

    2015-08-01

    This special issue exemplifies one of the major goals of the current editor of Experimental and Clinical Psychopharmacology (Dr. Suzette Evans): to increase the number of manuscripts that emphasize females and address sex differences. Taken together, these articles represent a broad range of drug classes and approaches spanning preclinical research to treatment to better understand the role of sex differences in drug abuse. While not all studies found sex differences, we want to emphasize that finding no sex difference is just as important as confirming one, and should be reported in peer-reviewed journals. It is our intention and hope that this special issue will further advance scientific awareness about the importance of accounting for sex differences in the study of substance abuse. Participant sex is an essential variable to consider in developing a more comprehensive understanding of substance abuse. Rather than viewing investigating sex differences as burdensome, investigators should seize this opportune area ripe for innovative research that is long overdue. (c) 2015 APA, all rights reserved).

  18. [Etiological analysis and individualized treatment of pharyngeal paraesthesia].

    Science.gov (United States)

    Lou, Zhengcai; Gong, Xuhong; Lou, Fangyi; He, Lanjuan; Zhu, Qiaoying

    2009-07-01

    To analyze the nosazontology of pharyngeal paraesthesia and investigate the treatment. Two hundred and twelve misdiagnosed pharyngeal paraesthesia patients were investigated by history inquiry, routine examination, 24-hour esophageal pH monitoring, barium X-ray of the oesophagus, anxieties-athymic private measuring scale, coefficient of variation of the R-R (CVR-R), bioavailable testosterone detection (Bio-T), erection experiment and questionnaire about man climacteric syndrome. The concomitant symptoms and positions of pharyngeal paresthesia were also studied. We adopted individuallized sequential multi-therapy for every patient according to the cause of disease. The cause of disease within 212 cases of pharyngeal paraesthesia included 62 psychic trauma, 32 endocrine system disease, 106 upper gastrointestinal disease, circulatory disease, 9 circulatory disease, 3 idiopathic. With individualized treatment, 110 cases had fully recovered, 63 cases excellence and 31 cases utility, and the efficiency rate was 96.23%. Pharyngeal paraesthesia can be caused by several factors. Thorough examination and comprehensive analysis should be applied to those incurable patient who has been treated for a long time. Short course of treatment and irrational drug use are the main causes of short-term recurrence and unsatisfactory curative effect.

  19. ENTEROVIRUS INFECTION: VARIETY OF ETIOLOGICAL FACTORS AND CLINICAL MANIFESTATIONS

    Directory of Open Access Journals (Sweden)

    O. I. Kanaeva

    2014-01-01

    Full Text Available Abstract. Enteroviruses are widely distributed human infectious pathogens. In spite of infection a disease does not manifest in majority number of cases. However, in some infected persons the different kind of symptoms can be observed; from common cold signs up to  aseptic (serous meningitis and myocarditis. Severe enteroviral cases with lethal outcomes are rarely reported. Ability of enteroviruses to cause large outbreaks and even epidemic distribution is very significant for health care systems. Taking in account a high genetic diversity of enteroviruses it is possible appearance of new highly pathogenic strains in the future. In some countries including the Russian Federation the permanent surveillance for enteroviral infections is provided besides of WHO polio elimination program. The laboratory diagnostics of enterovirus infections is complicated by numerous of pathogen serotypes. Thus, classical virological methods should be supported by molecular-biological tools to sequence pathogen genome and to define phylogenetic relations between different enterovirus strains.

  20. Zika Fetal Neuropathogenesis: Etiology of a Viral Syndrome.

    Directory of Open Access Journals (Sweden)

    Zachary A Klase

    2016-08-01

    Full Text Available The ongoing Zika virus epidemic in the Americas and the observed association with both fetal abnormalities (primary microcephaly and adult autoimmune pathology (Guillain-Barré syndrome has brought attention to this neglected pathogen. While initial case studies generated significant interest in the Zika virus outbreak, larger prospective epidemiology and basic virology studies examining the mechanisms of Zika viral infection and associated pathophysiology are only now starting to be published. In this review, we analyze Zika fetal neuropathogenesis from a comparative pathology perspective, using the historic metaphor of "TORCH" viral pathogenesis to provide context. By drawing parallels to other viral infections of the fetus, we identify common themes and mechanisms that may illuminate the observed pathology. The existing data on the susceptibility of various cells to both Zika and other flavivirus infections are summarized. Finally, we highlight relevant aspects of the known molecular mechanisms of flavivirus replication.

  1. Zika Fetal Neuropathogenesis: Etiology of a Viral Syndrome

    Science.gov (United States)

    Klase, Zachary A.; Khakhina, Svetlana; Schneider, Adriano De Bernardi; Callahan, Michael V.; Glasspool-Malone, Jill

    2016-01-01

    The ongoing Zika virus epidemic in the Americas and the observed association with both fetal abnormalities (primary microcephaly) and adult autoimmune pathology (Guillain–Barré syndrome) has brought attention to this neglected pathogen. While initial case studies generated significant interest in the Zika virus outbreak, larger prospective epidemiology and basic virology studies examining the mechanisms of Zika viral infection and associated pathophysiology are only now starting to be published. In this review, we analyze Zika fetal neuropathogenesis from a comparative pathology perspective, using the historic metaphor of “TORCH” viral pathogenesis to provide context. By drawing parallels to other viral infections of the fetus, we identify common themes and mechanisms that may illuminate the observed pathology. The existing data on the susceptibility of various cells to both Zika and other flavivirus infections are summarized. Finally, we highlight relevant aspects of the known molecular mechanisms of flavivirus replication. PMID:27560129

  2. Sensitivity and Specificity of Procalcitonin to Determine Etiology of Diarrhea in Children Younger Than 5 Years

    OpenAIRE

    Ismaili-Jaha, Vlora; Shala, Mujë; Azemi, Mehmedali; Spahiu, Shqipe; Hoxha, Teuta; Avdiu, Muharrem; Spahiu, Lidvana

    2014-01-01

    Aim: The aim of this study is to assess the sensitivity and specificity of procalcitonin to determine bacterial etiology of diarrhea. The examinees and methods: For this purpose we conducted the study comprising 115 children aged 1 to 60 months admitted at the Department of Pediatric Gastroenterology, Pediatric Clinic, divided in three groups based on etiology of the diarrhea that has been confirmed with respective tests during the hospitalization. Each group has equal number of patients – 35...

  3. Breastfeeding and genetic factors in the etiology of inflammatory bowel disease in children

    Institute of Scientific and Technical Information of China (English)

    Theresa A Mikhailov; Sylvia E Furner

    2009-01-01

    Inflammatory bowel disease is a chronic, debilitating disorder of the gastrointestinal tract. The etiology of inflammatory bowel disease has not been elucidated, but is thought to be multifactorial with both environmental and genetic influences. A large body of research has been conducted to elucidate the etiology of inflammatory bowel disease. This article reviews this literature, emphasizing the studies of breastfeeding and the studies of genetic factors, particularly NOD2 polymorphisms.

  4. The base moments in etiological prevention of peri-odontal disease in children and adolescents

    Directory of Open Access Journals (Sweden)

    Kharitonova T.L.

    2011-03-01

    Full Text Available Anatomical and physiological features of the growing organism requires a different approach to prevention and treatment of periodontal disease. This article presents the highlights of the etiological prevention of periodontal diseases, taking into account the anatomical and physiological, and psycho-emotional features of childhood, are based on current data on the prevalence periodontal disease in children, recent research findings in the etiology and patho-genesis of periodontal disease

  5. The base moments in etiological prevention of peri-odontal disease in children and adolescents

    OpenAIRE

    Kharitonova T.L.; Suyetenkov D.Ye.; Gritsenko Е.А.; Lebedeva S.N.

    2011-01-01

    Anatomical and physiological features of the growing organism requires a different approach to prevention and treatment of periodontal disease. This article presents the highlights of the etiological prevention of periodontal diseases, taking into account the anatomical and physiological, and psycho-emotional features of childhood, are based on current data on the prevalence periodontal disease in children, recent research findings in the etiology and patho-genesis of periodontal disease

  6. Assessment of the Etiologic Factors of Gingival Recession in a Group of Patients in Northwest Iran

    OpenAIRE

    Lafzi, Ardeshir; Abolfazli, Nader; Eskandari, Amir

    2009-01-01

    Background and aims Gingival recession (GR), a common problem in periodontium, is associated with various etiologic factors. There is controversy over the role and importance of these factors. The aim of this study was to evaluate the etiologic factors of GR in a group of subjects in Northwest Iran. Materials and methods In this case-control study, patients referring to a university clinic (123 patients with GR and 123 patients without GR) were evaluated. Patients were examined by an experien...

  7. Poor Comprehenders in the Classroom: Teacher Ratings of Behavior in Children with Poor Reading Comprehension and Its Relationship with Individual Differences in Working Memory

    Science.gov (United States)

    Pimperton, Hannah; Nation, Kate

    2014-01-01

    Differing etiological explanations have been proposed to account for poor comprehenders' difficulties with reading comprehension, with some researchers emphasizing working memory deficits and others arguing for oral language weaknesses playing a key causal role. The authors contrasted these two theoretical accounts using data obtained from direct…

  8. Molecular water oxidation catalysis

    CERN Document Server

    Llobet, Antoni

    2014-01-01

    Photocatalytic water splitting is a promising strategy for capturing energy from the sun by coupling light harvesting and the oxidation of water, in order to create clean hydrogen fuel. Thus a deep knowledge of the water oxidation catalysis field is essential to be able to come up with useful energy conversion devices based on sunlight and water splitting. Molecular Water Oxidation Catalysis: A Key Topic for New Sustainable Energy Conversion Schemes presents a comprehensive and state-of-the-art overview of water oxidation catalysis in homogeneous phase, describing in detail the most importan

  9. Intrathecal immunoglobulin synthesis in patients with symptomatic epilepsy and epilepsy of unknown etiology ('cryptogenic').

    Science.gov (United States)

    Fauser, S; Soellner, C; Bien, C G; Tumani, H

    2017-09-01

    To compare the frequency of intrathecal immunoglobulin (Ig) synthesis in patients with symptomatic epilepsy and epilepsy of unknown etiology ('cryptogenic'). Patients with epileptic (n = 301) and non-epileptic (n = 10) seizures were retrospectively screened for autochthonous intrathecal Ig synthesis and oligoclonal bands (OCBs) in the cerebrospinal fluid. Intrathecal IgG/OCBs were detected in 8% of patients with epilepsies of unknown etiology, 5% of patients with first seizures of unknown cause and 0-4% of patients with epilepsy due to brain tumors, cerebrovascular disease or other etiologies. Intrathecal IgG/OCBs were not seen in patients with psychogenic seizures. Identical OCBs in serum and cerebrospinal fluid were more common in all patient groups (10-40% depending on underlying etiology). Intrathecal IgG synthesis/OCBs were observed slightly more frequently in patients with 'cryptogenic' epilepsy and with first seizures of unknown etiology than in other patient groups. However, this remained an infrequent finding and thus we could not confirm humoral immunity as a leading disease mechanism in patients with epilepsy in general or with unknown etiology in particular. © 2017 EAN.

  10. Etiological classification of ischemic stroke in young patients: a comparative study of TOAST, CCS, and ASCO.

    Science.gov (United States)

    Gökçal, Elif; Niftaliyev, Elvin; Asil, Talip

    2017-09-01

    Analysis of stroke subtypes is important for making treatment decisions and prognostic evaluations. The TOAST classification system is most commonly used, but the CCS and ASCO classification systems might be more useful to identify stroke etiologies in young patients whose strokes have a wide range of different causes. In this manuscript, we aim to compare the differences in subtype classification between TOAST, CCS, and ASCO in young stroke patients. The TOAST, CCS, and ASCO classification schemes were applied to 151 patients with ischemic stroke aged 18-49 years old and the proportion of subtypes classified by each scheme was compared. For comparison, determined etiologies were defined as cases with evident and probable subtypes when using the CCS scheme and cases with grade 1 and 2 subtypes but no other grade 1 subtype when using the ASCO scheme. The McNemar test with Bonferroni correction was used to assess significance. By TOAST, 41.1% of patients' stroke etiology was classified as undetermined etiology, 19.2% as cardioembolic, 13.2% as large artery atherosclerosis, 11.3% as small vessel occlusion, and 15.2% as other causes. Compared with TOAST, both CCS and ASCO assigned fewer patients to the undetermined etiology group (30.5% p CCS and ASCO classification schemes in young stroke patients seems feasible, and using both schemes may result in fewer patients being classified as undetermined etiology. New studies with more patients and a prospective design are needed to explore this topic further.

  11. Acute gastrointestinal bleeding: detection of source and etiology with multi-detector-row CT

    Energy Technology Data Exchange (ETDEWEB)

    Scheffel, Hans; Pfammatter, Thomas; Marincek, Borut; Alkadhi, Hatem [University Hospital Zurich, Institute of Diagnostic Radiology, Zurich (Switzerland); Wildi, Stefan [University Hospital Zurich, Department of Visceral and Transplant Surgery, Zurich (Switzerland); Bauerfeind, Peter [University Hospital Zurich, Division of Gastroenterology, Zurich (Switzerland)

    2007-06-15

    This study was conducted to determine the ability of multi-detector-row computed tomography (CT) to identify the source and etiology of acute gastrointestinal bleeding. Eighteen patients with acute upper (n = 10) and lower (n = 8) gastrointestinal bleeding underwent 4-detector-row CT (n = 6), 16-detector-row CT (n = 11), and 64-slice CT (n = 1) with an arterial and portal venous phase of contrast enhancement. Unenhanced scans were performed in nine patients. CT scans were reviewed to determine conspicuity of bleeding source, underlying etiology, and for potential causes of false-negative prospective interpretations. Bleeding sources were prospectively identified with CT in 15 (83%) patients, and three (17%) bleeding sources were visualized in retrospect, allowing the characterization of all sources of bleeding with CT. Contrast extravasation was demonstrated with CT in all 11 patients with severe bleeding, but only in 1 of 7 patients with mild bleeding. The etiology could not be identified on unenhanced CT scans in any patient, whereas arterial-phase and portal venous-phase CT depicted etiology in 15 (83%) patients. Underlying etiology was correctly identified in all eight patients with mild GI bleeding. Multi-detector-row CT enables the identification of bleeding source and precise etiology in patients with acute gastrointestinal bleeding. (orig.)

  12. Acute gastrointestinal bleeding: detection of source and etiology with multi-detector-row CT

    International Nuclear Information System (INIS)

    Scheffel, Hans; Pfammatter, Thomas; Marincek, Borut; Alkadhi, Hatem; Wildi, Stefan; Bauerfeind, Peter

    2007-01-01

    This study was conducted to determine the ability of multi-detector-row computed tomography (CT) to identify the source and etiology of acute gastrointestinal bleeding. Eighteen patients with acute upper (n = 10) and lower (n = 8) gastrointestinal bleeding underwent 4-detector-row CT (n = 6), 16-detector-row CT (n = 11), and 64-slice CT (n = 1) with an arterial and portal venous phase of contrast enhancement. Unenhanced scans were performed in nine patients. CT scans were reviewed to determine conspicuity of bleeding source, underlying etiology, and for potential causes of false-negative prospective interpretations. Bleeding sources were prospectively identified with CT in 15 (83%) patients, and three (17%) bleeding sources were visualized in retrospect, allowing the characterization of all sources of bleeding with CT. Contrast extravasation was demonstrated with CT in all 11 patients with severe bleeding, but only in 1 of 7 patients with mild bleeding. The etiology could not be identified on unenhanced CT scans in any patient, whereas arterial-phase and portal venous-phase CT depicted etiology in 15 (83%) patients. Underlying etiology was correctly identified in all eight patients with mild GI bleeding. Multi-detector-row CT enables the identification of bleeding source and precise etiology in patients with acute gastrointestinal bleeding. (orig.)

  13. Molecular pathology and thyroid FNA.

    Science.gov (United States)

    Poller, D N; Glaysher, S

    2017-12-01

    This review summarises molecular pathological techniques applicable to thyroid FNA. The molecular pathology of thyroid tumours is now fairly well understood. Molecular methods may be used as a rule-in test for diagnosis of malignancy in thyroid nodules, eg BRAF V600E point mutation, use of a seven-gene mutational panel (BRAF V600E, RAS genes, RET/PTC or PAX8/PPARG rearrangement), or as a comprehensive multigene next-generation sequencing panel, eg ThyroSeq v2. Molecular methods can also be applied as rule-out tests for malignancy in thyroid nodules, eg Afirma or ThyroSeq v2 or as markers of prognosis, eg TERT promoter mutation or other gene mutations including BRAF V600E, TP53 and AKT1, and as tests for newly defined tumour entities such as non-invasive follicular thyroid neoplasm with papillary like nuclei, or as a molecular marker(s) for targeted therapies. This review describes practical examples of molecular techniques as applied to thyroid FNA in routine clinical practice and the value of molecular diagnostics in thyroid FNA. It describes the range of molecular abnormalities identified in thyroid nodules and thyroid cancers with some practical applications of molecular methods to diagnosis and prognosis of thyroid nodules and thyroid cancer. © 2017 John Wiley & Sons Ltd.

  14. Comprehensive Error Rate Testing (CERT)

    Data.gov (United States)

    U.S. Department of Health & Human Services — The Centers for Medicare and Medicaid Services (CMS) implemented the Comprehensive Error Rate Testing (CERT) program to measure improper payments in the Medicare...

  15. A developmental etiological model for drug abuse in men.

    Science.gov (United States)

    Kendler, Kenneth S; Ohlsson, Henrik; Edwards, Alexis C; Sundquist, Jan; Sundquist, Kristina

    2017-10-01

    We attempt to develop a relatively comprehensive structural model of risk factors for drug abuse (DA) in Swedish men that illustrates developmental and mediational processes. We examined 20 risk factors for DA in 48,369 men undergoing conscription examinations in 1969-70 followed until 2011 when 2.34% (n=1134) of them had DA ascertained in medical, criminal and pharmacy registries. Risk factors were organized into four developmental tiers reflecting i) birth, ii) childhood/early adolescence, iii) late adolescence, and iv) young adulthood. Structural equational model fitting was performed using Mplus. The best fitting model explained 47.8% of the variance in DA. The most prominent predictors, in order, were: early adolescent externalizing behavior, early adult criminal behavior, early adolescent internalizing behavior, early adult unemployment, early adult alcohol use disorder, and late adolescent drug use. Two major inter-connecting pathways emerged reflecting i) genetic/familial risk and ii) family dysfunction and psychosocial adversity. Generated on a first and tested on a second random half of the sample, a model from these variables predicted DA with an ROC area under the curve of 83.6%. Fifty-nine percent of DA cases arose from subjects in the top decile of risk. DA in men is a highly multifactorial syndrome with risk arising from familial-genetic, psychosocial, behavioral and psychological factors acting and interacting over development. Among the multiple predisposing factors for DA, a range of psychosocial adversities, externalizing psychopathology and lack of social constraints in early adulthood are predominant. Copyright © 2017 Elsevier B.V. All rights reserved.

  16. [Epidemiologic diagnostic of nosocomial suppurative-septic infections of Pseudomonas etiology based on intraspecies typing of causative agent].

    Science.gov (United States)

    Fel'dblium, I V; Zakharova, Iu A; Nikolaeva, A M; Fedotova, O S

    2013-01-01

    Scientific justification of optimization of epidemiologic diagnostic of suppurative-septic infection (SSI) caused by Pseudomonas aeruginosa based on comparability of antibiotic sensitivity and beta-lactamase production. Intraspecies typing of 37 P. aeruginosa strains isolated during microbiological monitoring of 106 patients and 131 objects of clinical environment of surgical and obstetrician hospitals by using a complex ofphenotypic and molecular-biological methods including determination of sensitivity to antibiotics by serial dilutions method and PCR-diagnostics with determination of TEM, SHV, CTX, OXA, MBL, VIM genes was performed. P. aeruginosa strains combined into groups by isolation location during studies turned out to be heterogeneous by sensitivity to antibiotics and beta-lactamase production that allowed to form subgroups of strains by focality attribute. Isolates recovered from different SSI foci had significant differences in minimal inhibitory concentration (MIC) reaching 1024 times. MIC parameter within subgroups did not exceed 8 - 16 consequent dilutions. Use of a complex of phenotypic and molecular-biologic methods of causative agent typing including determination of sensitivity to antibiotics by serial dilutions method and evaluation of beta-lactamase production allowed to establish a mechanism of development of SSI epidemic process caused by P. aeruginosa, detect origins and reservoirs of infection in hospital, modes and factors of transmission and reach maximum justification of epidemiologic control and prophylaxis measures of localization of foci of nosocomial infections of pseudomonas etiology.

  17. Swabs to genomes: a comprehensive workflow

    Directory of Open Access Journals (Sweden)

    Madison I. Dunitz

    2015-05-01

    Full Text Available The sequencing, assembly, and basic analysis of microbial genomes, once a painstaking and expensive undertaking, has become much easier for research labs with access to standard molecular biology and computational tools. However, there are a confusing variety of options available for DNA library preparation and sequencing, and inexperience with bioinformatics can pose a significant barrier to entry for many who may be interested in microbial genomics. The objective of the present study was to design, test, troubleshoot, and publish a simple, comprehensive workflow from the collection of an environmental sample (a swab to a published microbial genome; empowering even a lab or classroom with limited resources and bioinformatics experience to perform it.

  18. Comprehensive data analysis of human ureter proteome

    Directory of Open Access Journals (Sweden)

    Sameh Magdeldin

    2016-03-01

    Full Text Available Comprehensive human ureter proteome dataset was generated from OFFGel fractionated ureter samples. Our result showed that among 2217 non-redundant ureter proteins, 751 protein candidates (33.8% were detected in urine as urinary protein/polypeptide or exosomal protein. On the other hand, comparing ureter protein hits (48 that are not shown in corresponding databases to urinary bladder and prostate human protein atlas databases pinpointed 21 proteins that might be unique to ureter tissue. In conclusion, this finding offers future perspectives for possible identification of ureter disease-associated biomarkers such as ureter carcinoma. In addition, Cytoscape GO annotation was examined on the final ureter dataset to better understand proteins molecular function, biological processes, and cellular component. The ureter proteomic dataset published in this article will provide a valuable resource for researchers working in the field of urology and urine biomarker discovery.

  19. A Metadata Analysis of Oxidative Stress Etiology in Preclinical Amyotrophic Lateral Sclerosis: Benefits of Antioxidant Therapy

    Directory of Open Access Journals (Sweden)

    Leila Bond

    2018-01-01

    Full Text Available Oxidative stress, induced by an imbalance of free radicals, incites neurodegeneration in Amyotrophic Lateral Sclerosis (ALS. In fact, a mutation in antioxidant enzyme superoxide dismutase 1 (SOD1 accounts for 20% of familial ALS cases. However, the variance among individual studies examining ALS oxidative stress clouds corresponding conclusions. Therefore, we construct a comprehensive, temporal view of oxidative stress and corresponding antioxidant therapy in preclinical ALS by mining published quantitative experimental data and performing metadata analysis of 41 studies. In vitro aggregate analysis of innate oxidative stress inducers, glutamate and hydrogen peroxide, revealed 70–90% of cell death coincides to inducer exposure equivalent to 30–50% peak concentration (p < 0.05. A correlative plateau in cell death suggests oxidative stress impact is greatest in early-stage neurodegeneration. In vivo SOD1-G93A transgenic ALS mouse aggregate analysis of heat shock proteins (HSPs revealed HSP levels are 30% lower in muscle than spine (p < 0.1. Overall spine HSP levels, including HSP70, are mildly upregulated in SOD1-G93A mice compared to wild type, but not significantly (p > 0.05. Thus, innate HSP compensatory responses to oxidative stress are simply insufficient, a result supportive of homeostatic system instability as central to ALS etiology. In vivo aggregate analysis of antioxidant therapy finds SOD1-G93A ALS mouse survival duration significantly increases by 11.2% (p << 0.001 but insignificantly decreases onset age by 2%. Thus, the aggregate antioxidant treatment effect on survival in preclinical ALS is not sufficient to overcome clinical heterogeneity, which explains the literature disparity between preclinical and clinical antioxidant survival benefit. The aggregate effect sizes on preclinical ALS survival and onset illustrate that present antioxidants, alone, are not sufficient to halt ALS, which underscores its multi-factorial nature

  20. La etiología de la esquizofrenia

    Directory of Open Access Journals (Sweden)

    Pablo V. Gejman

    2012-06-01

    Full Text Available Las investigaciones realizadas en los últimos años iniciaron una nueva era de conocimiento de los factores de riesgo de la esquizofrenia. Por otra parte, los métodos de estudio del genoma completo han revolucionado el campo del mapeado genético de la esquizofrenia. Estudios genéticos recientes sugieren que la variación genética rara y la variación genética común tienen una función importante en la arquitectura genética de la esquizofrenia, que el modelo poligénico es correcto, e indican una superposición de los factores genéticos que confieren susceptibilidad a la esquizofrenia y otros trastornos psiquiátricos, como el trastorno bipolar y el autismo (pleotropía. Los programas de resecuenciación del genoma completo permitirán una disección más profunda de la genética molecular de la enfermedad. Uno de los desafíos importantes de la psiquiatría genética es la traducción de las asociaciones estadísticas detectadas en estudios de genoma completo en una mejor comprensión fisiopatológica de la esquizofrenia.