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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. 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

  3. [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.

  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. 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.

  6. 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.

  7. [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.

  8. 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

  9. 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.

  10. 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.

  11. 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

  12. 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.

  13. 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

  14. 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.

  15. 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.

  16. 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.

  17. 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.

  18. 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.

  19. 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.

  20. 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

  1. 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.

  2. 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.

  3. 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

  4. 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

  5. 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.

  6. 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.).

  7. 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,…

  8. 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.

  9. 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.

  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 a...

  11. [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.

  12. 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.

  13. 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.

  14. Molecular Mechanism of Gastric Carcinogenesis in Helicobacter pylori-Infected Rodent Models

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    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.

  15. 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...

  16. 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.

  17. 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....

  18. 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.

  19. 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

  20. 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.

  1. 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.

  2. 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.

  3. 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.

  4. 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

  5. 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

  6. 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.

  7. 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.

  8. 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.

  9. 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

  10. STUDY ON ETIOLOGY OF ASCITES

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    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.

  11. 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

  12. 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.

  13. 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

  14. 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.

  15. 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

  16. 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.

  17. 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.

  18. 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.

  19. 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.

  20. Etiology and Pathogenesis of Epithelial Ovarian Cancer

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    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.

  1. 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.

  2. 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

  3. 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.

  4. 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.

  5. 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.

  6. 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…

  7. 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.

  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. 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.

  10. Enhancing the comprehension of visual metaphors in individuals with intellectual disability with or without down syndrome.

    Science.gov (United States)

    Shnitzer-Meirovich, Shlomit; Lifshitz, Hefziba; Mashal, Nira

    2018-03-01

    This study is the first to investigate the effectiveness of deep and shallow intervention programs in the acquisition of visual metaphor comprehension in individuals with non-specific intellectual disability (NSID; aged 15-59, N = 53) or Down syndrome (DS; aged 15-52, N = 50). The deep intervention program was based on dynamic assessment model for enhancing analogical thinking. The shallow intervention program involves memorizing a metaphorical relationship between pairs of pictures. Visual metaphor comprehension was measured by the construction of a metaphorical connection between pairs of pictures. The results indicated that both etiology groups exhibited poor understanding of visual metaphors before the intervention. A significant improvement was observed in both interventions and both etiology groups, with greater improvement among individuals who underwent the deep processing. Moreover, the latter procedure led to greater generalization ability. The results also indicated that vocabulary contributed significantly to understanding unstudied metaphors and that participants with poorer linguistic abilities exhibited greater improvement in their metaphorical thinking. Thus, individuals with ID with or without DS are able to recruit the higher-order cognitive abilities required for visual metaphor comprehension. Copyright © 2018 Elsevier Ltd. All rights reserved.

  11. 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 ±...

  12. [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.

  13. 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

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

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    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.

  15. 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.

  16. Library of molecular associations: curating the complex molecular basis of liver diseases

    Directory of Open Access Journals (Sweden)

    Maass Thorsten

    2010-03-01

    Full Text Available Abstract Background Systems biology approaches offer novel insights into the development of chronic liver diseases. Current genomic databases supporting systems biology analyses are mostly based on microarray data. Although these data often cover genome wide expression, the validity of single microarray experiments remains questionable. However, for systems biology approaches addressing the interactions of molecular networks comprehensive but also highly validated data are necessary. Results We have therefore generated the first comprehensive database for published molecular associations in human liver diseases. It is based on PubMed published abstracts and aimed to close the gap between genome wide coverage of low validity from microarray data and individual highly validated data from PubMed. After an initial text mining process, the extracted abstracts were all manually validated to confirm content and potential genetic associations and may therefore be highly trusted. All data were stored in a publicly available database, Library of Molecular Associations http://www.medicalgenomics.org/databases/loma/news, currently holding approximately 1260 confirmed molecular associations for chronic liver diseases such as HCC, CCC, liver fibrosis, NASH/fatty liver disease, AIH, PBC, and PSC. We furthermore transformed these data into a powerful resource for molecular liver research by connecting them to multiple biomedical information resources. Conclusion Together, this database is the first available database providing a comprehensive view and analysis options for published molecular associations on multiple liver diseases.

  17. 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

  18. 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.

  19. 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.

  20. 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,

  1. 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.

  2. ETIOLOGICAL FACTORS OF CHRONIC GASTRITIS IN CHILDREN

    Directory of Open Access Journals (Sweden)

    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.

  3. 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.

  4. 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.

  5. 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.

  6. 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....

  7. 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...

  8. 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

  9. 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

  10. 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)

  11. 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....

  12. 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.

  13. 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.

  14. 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.

  15. 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.

  16. 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.

  17. [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.

  18. 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

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

    Directory of Open Access Journals (Sweden)

    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.

  20. 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.

  1. 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.

  2. 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.

  3. 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 ...

  4. 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.

  5. 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

  6. 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.

  7. 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.

  8. [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.

  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. 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. 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.

  13. The Molecular Biology Capstone Assessment: A Concept Assessment for Upper-Division Molecular Biology Students

    Science.gov (United States)

    Couch, Brian A.; Wood, William B.; Knight, Jennifer K.

    2015-01-01

    Measuring students' conceptual understandings has become increasingly important to biology faculty members involved in evaluating and improving departmental programs. We developed the Molecular Biology Capstone Assessment (MBCA) to gauge comprehension of fundamental concepts in molecular and cell biology and the ability to apply these concepts in…

  14. 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.

  15. 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...

  16. 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.

  17. 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.

  18. 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.

  19. 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.

  20. 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.

  1. 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.

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

    Directory of Open Access Journals (Sweden)

    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.

  3. 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

  4. 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

  5. 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.

  6. 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.

  7. White piedra: molecular identification of Trichosporon inkin in members of the same family.

    Science.gov (United States)

    Richini-Pereira, Virgínia Bodelão; Camargo, Rosângela Maria Pires de; Bagagli, Eduardo; Marques, Silvio Alencar

    2012-06-01

    White piedra is a superficial mycosis caused by the genus Trichosporon and characterized by nodules on hair shaft. The authors report a family referred to as pediculosis. Mycological culture on Mycosel® plus molecular identification was performed to precisely identify the etiology. A Trichosporon spp. infection was revealed. The molecular procedure identified the agent as Trichosporon inkin. White piedra and infection caused by T. inkin are rarely reported in Southern Brazil. The molecular tools are essentials on identifying the Trichosporon species.

  8. 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…

  9. 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

  10. 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.

  11. 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

  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. 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

  14. 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)

  15. 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.

  16. Molecular Gels Materials with Self-Assembled Fibrillar Networks

    CERN Document Server

    Weiss, Richard G

    2006-01-01

    Molecular gels and fibrillar networks – a comprehensive guide to experiment and theory Molecular Gels: Materials with Self-Assembled Fibrillar Networks provides a comprehensive treatise on gelators, especially low molecular-mass gelators (LMOGs), and the properties of their gels. The structures and modes of formation of the self-assembled fibrillar networks (SAFINs) that immobilize the liquid components of the gels are discussed experimentally and theoretically. The spectroscopic, rheological, and structural features of the different classes of LMOGs are also presented. Many examples of the application of the principal analytical techniques for investigation of molecular gels (including SANS, SAXS, WAXS, UV-vis absorption, fluorescence and CD spectroscopies, scanning electron, transmission electron and optical microscopies, and molecular modeling) are presented didactically and in-depth, as are several of the theories of the stages of aggregation of individual LMOG molecules leading to SAFINs. Several actua...

  17. 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

  18. Molecular biodiversity of Red Sea demosponges

    International Nuclear Information System (INIS)

    Erpenbeck, Dirk; Voigt, Oliver; Al-Aidaroos, Ali M.; Berumen, Michael L.; Büttner, Gabriele; Catania, Daniela; Guirguis, Adel Naguib; Paulay, Gustav; Schätzle, Simone

    2016-01-01

    Sponges are important constituents of coral reef ecosystems, including those around the Arabian Peninsula. Despite their importance, our knowledge on demosponge diversity in this area is insufficient to recognize, for example, faunal changes caused by anthropogenic disturbances. We here report the first assessment of demosponge molecular biodiversity from Arabia, with focus on the Saudi Arabian Red Sea, based on mitochondrial and nuclear ribosomal molecular markers gathered in the framework of the Sponge Barcoding Project. We use a rapid molecular screening approach on Arabian demosponge collections and analyze results in comparison against published material in terms of biodiversity. We use a variable region of 28S rDNA, applied for the first time in the assessment of demosponge molecular diversity. Our data constitutes a solid foundation for a future more comprehensive understanding of sponge biodiversity of the Red Sea and adjacent waters. - Highlights: •First assessment of demosponge molecular biodiversity from Arabia •Rapid molecular screening approach on Arabian demosponge collections •Assessment of 28S 'C-Region' for demosponge barcoding •Data for a future comprehensive understanding of sponge biodiversity of the Red Sea

  19. A Review and Critique of Obsessive-Compulsive Personality Disorder Etiologies

    Directory of Open Access Journals (Sweden)

    Steven Charles Hertler

    2014-02-01

    Full Text Available The present review and critique of extant etiological theories centers on a single finding: Obsessive-compulsive personality is highly heritable (0.78 and not significantly influenced by “common, shared-in-families environmental factors” (Torgersen et al., 2000, p. 424. This finding, though twelve years old, has remained dissociated from existing etiological accounts. Psychoanalytic theories anachronistically maintain that obsessive personality is familially forged. Biological theories, few, unelaborated and weakened by postulating proximate instead of ultimate explanations, fail to seriously reckon with Torgersen’s findings. Truly integrating heritability estimates into a functional etiological account of obsessive character, it is argued in the discussion section, will come from an evolutionary model that understands obsessive personality to be an evolved strategy rather than a dysfunctional disorder.

  20. 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

  1. [Rehabilitation of children with apallic syndrome of traumatic or ischemic etiology].

    Science.gov (United States)

    Jović, Stevan; Cutović, Milisav; Konstantinović, Ljubica; Lazović, Milica; Jović, Marko

    2006-01-01

    Apallic syndrome may be defined as the complete lack of cortical function - paragnosia and parapraxia. Vegetative functions and other sub cortical functions are maintained (sleep rhythm, suckling and swallowing reflex). The aim of the study was to investigate the recovery of children with Apallic syndrome depending on the etiology and differences among various modalities like self-care, motor control and speech during rehabilitation. The study was conducted among eight children (mean age 9.4) (SD-2.6). Four had a post-traumatic and four Apallic syndrome of ischemic etiology. Friedman and Kruskal-Wallis tests were used for statistical analysis. There was no evident difference in recovery among children with Apallic syndrome of different etiology. In regard to self-care, motor control and speech, all children showed the same level of improvement during rehabilitation therapy. These results correspond with similar research findings. Rehabilitation is essential to aid recovery and it does not depend on the etiology. Recovery success is the same regardless of the chosen modality.

  2. 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.

  3. 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…

  4. 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.

  5. 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.

  6. 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.

  7. [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.

  8. 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.

  9. 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.

  10. 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.

  11. [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.

  12. Headache as a crucial symptom in the etiology of convexal subarachnoid hemorrhage.

    Science.gov (United States)

    Rico, María; Benavente, Lorena; Para, Marta; Santamarta, Elena; Pascual, Julio; Calleja, Sergio

    2014-03-01

    Convexal subarachnoid hemorrhage has been associated with different diseases, reversible cerebral vasoconstriction syndrome and cerebral amyloid angiopathy being the 2 main causes. To investigate whether headache at onset is determinant in identifying the underlying etiology for convexal subarachnoid hemorrhage. After searching in the database of our hospital, 24 patients were found with convexal subarachnoid hemorrhage in the last 10 years. The mean age of the sample was 69.5 years. We recorded data referring to demographics, symptoms and neuroimaging. Cerebral amyloid angiopathy patients accounted for 46% of the sample, 13% were diagnosed with reversible cerebral vasoconstriction syndrome, 16% with several other etiologies, and in 25%, the cause remained unknown. Mild headache was present only in 1 (9%) of the 11 cerebral amyloid angiopathy patients, while severe headache was the dominant feature in 86% of cases of the remaining etiologies. Headache is a key symptom allowing a presumptive etiological diagnosis of convexal subarachnoid hemorrhage. While the absence of headache suggests cerebral amyloid angiopathy as the more probable cause, severe headache obliges us to rule out other etiologies, such as reversible cerebral vasoconstriction syndrome. © 2013 American Headache Society.

  13. 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 ...

  14. Colorectal Cancers: An Update on Their Molecular Pathology.

    Science.gov (United States)

    Inamura, Kentaro

    2018-01-20

    Colorectal cancers (CRCs) are the third leading cause of cancer-related mortality worldwide. Rather than being a single, uniform disease type, accumulating evidence suggests that CRCs comprise a group of molecularly heterogeneous diseases that are characterized by a range of genomic and epigenomic alterations. This heterogeneity slows the development of molecular-targeted therapy as a form of precision medicine. Recent data regarding comprehensive molecular characterizations and molecular pathological examinations of CRCs have increased our understanding of the genomic and epigenomic landscapes of CRCs, which has enabled CRCs to be reclassified into biologically and clinically meaningful subtypes. The increased knowledge of the molecular pathological epidemiology of CRCs has permitted their evolution from a vaguely understood, heterogeneous group of diseases with variable clinical courses to characteristic molecular subtypes, a development that will allow the implementation of personalized therapies and better management of patients with CRC. This review provides a perspective regarding recent developments in our knowledge of the molecular and epidemiological landscapes of CRCs, including results of comprehensive molecular characterizations obtained from high-throughput analyses and the latest developments regarding their molecular pathologies, immunological biomarkers, and associated gut microbiome. Advances in our understanding of potential personalized therapies for molecularly specific subtypes are also reviewed.

  15. 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.)

  16. 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.)

  17. 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...

  18. 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.

  19. Time trends in the etiology of chronic pancreatitis in South India.

    Science.gov (United States)

    Rajesh, Gopalakrishna; Girish, Banavara Narasimhamurthy; Panicker, Suprabha; Balakrishnan, Vallath

    2014-01-01

    Recent reports indicate a decline in prevalence of classical tropical chronic pancreatitis (TCP). We studied the etiologies and risk factors over a 14-year period at a tertiary care university hospital. We compared the etiology in chronic pancreatitis (CP) patients presenting and followed-up in our Pancreas Clinic over two time periods (2000-06 and 2007-13). Idiopathic chronic pancreatitis (ICP) was the predominant etiology seen over the two time periods. However an increase in prevalence of alcoholic chronic pancreatitis (ACP) during the latter time period suggests that it may be emerging as a dominant etiology over recent years. Hypertriglyceridemia and hyperparathyroidism were uncommon causes of non-alcoholic CP. Autoimmune pancreatitis was noted only during 2007-13, but remains a rare cause of CP. There are multiple risk factors for CP in our population. The high prevalence of ICP indicates need closer examination of risk factors and ICP pathogenesis. ACP appears to be emerging as a dominant cause of CP which suggests a need to reorient preventive strategies.

  20. 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.

  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. 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.

  3. Nasopharyngeal angiofibroma: review of the genetic and molecular aspects

    Directory of Open Access Journals (Sweden)

    Oliveira, Viviane Boaventura de

    2008-09-01

    Full Text Available Introduction: Juvenile nasopharyngeal angiofibroma (JNA is a rare fibrovascular tumor of unknown etiology, with few studies analyzing its pathogenesis. Objective: Reviewing JNA's pathogenesis, emphasizing genetic and molecular aspects. Method: All the relevant articles indexed in PUBMED and LILACS, besides reference book chapters, published between 1959 and 2007 were reviewed. Results: The sex selectivity seen in JNA may be explained by intranuclear accumulation of androgen receptor and beta-catenin, a co-activator which increases the tumor sensitivity to androgynous. The genetic alterations seen in JNA are most frequently located in sexual chromosomes. A number of growth factors seem to be related to the tumor pathogenesis. The insulin-like growth factor II is highly expressed while the vascular endothelial growth factor and the transforming growth factor beta are released by stromal cells and may influence the JNA's growth and vascularization. Conclusion: In spite of the scarce data describing the JNA etiology and pathogenesis, genetic and molecular factors seem to collaborate to the understanding of the disease's many clinical and morphological features. Knowledge regarding these specific issues could contribute for the establishment of potential therapeutic targets in the future.

  4. Acculturation, cultural values, and Latino parental beliefs about the etiology of ADHD.

    Science.gov (United States)

    Lawton, Kathryn E; Gerdes, Alyson C; Haack, Lauren M; Schneider, Brian

    2014-03-01

    Attention-deficit/hyperactivity disorder (ADHD) is one of the most prevalent mental health disorders of childhood. Despite the availability of several evidence-based interventions, Latino children are more likely than non-minority children to have an unmet need for services related to ADHD. Given that parental beliefs about the etiology of ADHD likely influence service utilization, research needs to focus on cultural factors that may influence parental beliefs about the etiology of child behavior problems. Thus, the goal of the current study was to investigate the role of acculturation and cultural values of familism, respect, spirituality, and traditional gender roles in explaining parental etiological beliefs about ADHD in a sample of Latino parents. Findings suggest that behavioral acculturation was not significantly correlated with biopsychosocial or sociological/spiritual etiological beliefs; however, the cultural values of familism and traditional gender roles were positively correlated with sociological/spiritual beliefs. Further, exploratory analyses suggested that after controlling for SES, familism and traditional gender roles accounted for 30.5 % of the total variance in sociological/spiritual beliefs about ADHD. Finally, post hoc analyses revealed that cultural values were associated with several individual belief categories within the sociological/spiritual domain, including beliefs about friends, spirituality, and nature disharmony. The current study supports the inclusion of etiological beliefs and cultural factors in research examining help-seeking and access to mental health services among Latino families and suggests that the incorporation of alternative etiological beliefs about child behavior may be an important factor in culturally-appropriate mental health services.

  5. 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)

  6. The molecular basis of hereditary enamel defects in humans.

    Science.gov (United States)

    Wright, J T; Carrion, I A; Morris, C

    2015-01-01

    The formation of human enamel is highly regulated at the molecular level and involves thousands of genes. Requisites for development of this highly mineralized tissue include cell differentiation; production of a unique extracellular matrix; processing of the extracellular matrix; altering of cell function during different stages of enamel formation; cell movement and attachment; regulation of ion and protein movement; and regulation of hydration, pH, and other conditions of the microenvironment, to name just a few. Not surprising, there is a plethora of hereditary conditions with an enamel phenotype. The objective of this review was to identify the hereditary conditions listed on Online Mendelian Inheritance in Man (OMIM) that have an associated enamel phenotype and whether a causative gene has been identified. The OMIM database was searched with the terms amelogenesis, enamel, dental, and tooth, and all results were screened by 2 individuals to determine if an enamel phenotype was identified. Gene and gene product function was reviewed on OMIM and from publications identified in PubMed. The search strategy revealed 91 conditions listed in OMIM as having an enamel phenotype, and of those, 71 have a known molecular etiology or linked genetic loci. The purported protein function of those conditions with a known genetic basis included enzymes, regulatory proteins, extracellular matrix proteins, transcription factors, and transmembrane proteins. The most common enamel phenotype was a deficient amount of enamel, or enamel hypoplasia, with hypomineralization defects being reported less frequently. Knowing these molecular defects allows an initial cataloging of molecular pathways that lead to hereditary enamel defects in humans. This knowledge provides insight into the diverse molecular pathways involved in enamel formation and can be useful when searching for the genetic etiology of hereditary conditions that involve enamel. © International & American Associations for

  7. The Molecular Basis of Hereditary Enamel Defects in Humans

    Science.gov (United States)

    Carrion, I.A.; Morris, C.

    2015-01-01

    The formation of human enamel is highly regulated at the molecular level and involves thousands of genes. Requisites for development of this highly mineralized tissue include cell differentiation; production of a unique extracellular matrix; processing of the extracellular matrix; altering of cell function during different stages of enamel formation; cell movement and attachment; regulation of ion and protein movement; and regulation of hydration, pH, and other conditions of the microenvironment, to name just a few. Not surprising, there is a plethora of hereditary conditions with an enamel phenotype. The objective of this review was to identify the hereditary conditions listed on Online Mendelian Inheritance in Man (OMIM) that have an associated enamel phenotype and whether a causative gene has been identified. The OMIM database was searched with the terms amelogenesis, enamel, dental, and tooth, and all results were screened by 2 individuals to determine if an enamel phenotype was identified. Gene and gene product function was reviewed on OMIM and from publications identified in PubMed. The search strategy revealed 91 conditions listed in OMIM as having an enamel phenotype, and of those, 71 have a known molecular etiology or linked genetic loci. The purported protein function of those conditions with a known genetic basis included enzymes, regulatory proteins, extracellular matrix proteins, transcription factors, and transmembrane proteins. The most common enamel phenotype was a deficient amount of enamel, or enamel hypoplasia, with hypomineralization defects being reported less frequently. Knowing these molecular defects allows an initial cataloging of molecular pathways that lead to hereditary enamel defects in humans. This knowledge provides insight into the diverse molecular pathways involved in enamel formation and can be useful when searching for the genetic etiology of hereditary conditions that involve enamel. PMID:25389004

  8. 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.

  9. 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.)

  10. 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.

  11. 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

  12. A COMPREHENSIVE ANALYSIS DIABETES OF RISK FACTORS IN PATIENTS WITH CHRONIC PANCREATITIS

    Directory of Open Access Journals (Sweden)

    M. A. Kunitsyna

    2012-01-01

    Full Text Available Aim – to perform comprehensive analysis of the risk factors of diabetes mellitus (DM in patients with chronic pancreatitis (CP. Materials and methods. All examined patients with chronic pancreatitis (CP were divided into 2 groups. The first group – 38 patients with the progression of the diabetes in the first 3 years of the CP, the second – 44 people with no diabetes after 10 years of disease. Formation of CP etiologic groups based on the mandatory presence of one of two factors: alcohol abuse, the presence of disease of biliary system. The combination of two etiological factors wasl exclusion criteria. Results and conclusion. Among the examined patients biliary form of CP occurred in 52 patients, alcohol – in 30 patients. It was found that in the first three years of CP risk of diabetes is not associated with family history, obesity, number of exacerbations, but in the form of alcoholic CP DM formed almost two times more often than in the biliary. When combined with CP in patients with diabetes were significantly more common strain of the main flow and structural changes in the tail of the pancreas.

  13. Systematic review of hypertriglyceridemia-induced acute pancreatitis: A more virulent etiology?

    Science.gov (United States)

    Carr, Rosalie A; Rejowski, Benjamin J; Cote, Gregory A; Pitt, Henry A; Zyromski, Nicholas J

    2016-01-01

    We sought to define the severity and natural history of hypertriglyceridemia induced acute pancreatitis (HTG-AP), specifically whether HTG-AP causes more severe AP than that caused by other etiologies. Systematic review of the English literature. Thirty-four studies (15 countries; 1972-2015) included 1340 HTG-AP patients (weighted mean prevalence of 9%). The median admission triglyceride concentration was 2622 mg/dl (range 1160-9769). Patients with HTG have a 14% weighted mean prevalence of AP. Plasmapheresis decreased circulating triglycerides, but did not conclusively affect AP mortality. Only 7 reports (n = 392 patients) compared severity of HTG-AP to that of AP from other etiologies. Of these, 2 studies found no difference in severity, while 5 suggested that HTG-AP patients may have increased severity compared to AP of other etiology. 1) hypertriglyceridemia is a relatively uncommon (9%) cause of acute pancreatitis; however, patients with hypertriglyceridemia have a high (14%) incidence of acute pancreatitis; 2) plasmapheresis may offer specific therapy unique to this patient population; and 3) data specifically comparing the severity of HTG-AP with AP caused by other etiologies are heterogeneous and scarce. Copyright © 2016. Published by Elsevier B.V.

  14. [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.

  15. Noonan syndrome-causing genes: Molecular update and an assessment of the mutation rate

    Directory of Open Access Journals (Sweden)

    Ihssane El Bouchikhi

    2016-12-01

    Full Text Available Noonan syndrome is a common autosomal dominant disorder characterized by short stature, congenital heart disease and facial dysmorphia with an incidence of 1/1000 to 2500 live births. Up to now, several genes have been proven to be involved in the disturbance of the transduction signal through the RAS-MAP Kinase pathway and the manifestation of Noonan syndrome. The first gene described was PTPN11, followed by SOS1, RAF1, KRAS, BRAF, NRAS, MAP2K1, and RIT1, and recently SOS2, LZTR1, and A2ML1, among others. Progressively, the physiopathology and molecular etiology of most signs of Noonan syndrome have been demonstrated, and inheritance patterns as well as genetic counseling have been established. In this review, we summarize the data concerning clinical features frequently observed in Noonan syndrome, and then, we describe the molecular etiology as well as the physiopathology of most Noonan syndrome-causing genes. In the second part of this review, we assess the mutational rate of Noonan syndrome-causing genes reported up to now in most screening studies. This review should give clinicians as well as geneticists a full view of the molecular aspects of Noonan syndrome and the authentic prevalence of the mutational events of its causing-genes. It will also facilitate laying the groundwork for future molecular diagnosis research, and the development of novel treatment strategies.

  16. 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…

  17. 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.

  18. 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

  19. 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.

  20. 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.

  1. 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.

  2. 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.

  3. 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.

  4. 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

  5. Addressing the Analytic Challenges of Cross-Sectional Pediatric Pneumonia Etiology Data.

    Science.gov (United States)

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

    2017-06-15

    Despite tremendous advances in diagnostic laboratory technology, identifying the pathogen(s) causing pneumonia remains challenging because the infected lung tissue cannot usually be sampled for testing. Consequently, to obtain information about pneumonia etiology, clinicians and researchers test specimens distant to the site of infection. These tests may lack sensitivity (eg, blood culture, which is only positive in a small proportion of children with pneumonia) and/or specificity (eg, detection of pathogens in upper respiratory tract specimens, which may indicate asymptomatic carriage or a less severe syndrome, such as upper respiratory infection). While highly sensitive nucleic acid detection methods and testing of multiple specimens improve sensitivity, multiple pathogens are often detected and this adds complexity to the interpretation as the etiologic significance of results may be unclear (ie, the pneumonia may be caused by none, one, some, or all of the pathogens detected). Some of these challenges can be addressed by adjusting positivity rates to account for poor sensitivity or incorporating test results from controls without pneumonia to account for poor specificity. However, no classical analytic methods can account for measurement error (ie, sensitivity and specificity) for multiple specimen types and integrate the results of measurements for multiple pathogens to produce an accurate understanding of etiology. We describe the major analytic challenges in determining pneumonia etiology and review how the common analytical approaches (eg, descriptive, case-control, attributable fraction, latent class analysis) address some but not all challenges. We demonstrate how these limitations necessitate a new, integrated analytical approach to pneumonia etiology data. © The Author 2017. Published by Oxford University Press for the Infectious Diseases Society of America.

  6. Retinal artery occlusion and associated recurrent vascular risk with underlying etiologies.

    Directory of Open Access Journals (Sweden)

    Jeong-Ho Hong

    Full Text Available RAO is caused by various etiologies and subsequent vascular events may be associated with underlying etiologies. Our aim is to investigate the etiologies of RAO, the occurrence of subsequent vascular events and their association in patients with RAO.We analyzed data from 151 consecutive patients presenting with acute non-arteritic RAO between 2003 and 2013 in a single tertiary-care hospital. The primary outcome was the occurrence of a vascular event defined as stroke, myocardial infarction, and vascular death within 365 days of the RAO onset. The Kaplan-Meier survival analysis and Cox proportional hazard model were used to estimate the hazard ratio of the vascular events.Large artery atherosclerosis (LAA was the etiology more frequently associated with of RAO (41.1%, 62/151. During the one year follow-up, ischemic stroke and vascular events occurred in 8.6% and 9.9% of patients, respectively. Ten vascular events occurred in RAO patients attributed to LAA and 4 occurred in undetermined etiology. RAO patients with LAA had a nearly four times higher risk of vascular events compared to those without LAA (hazard ratio 3.94, 95% confidence interval 1.21-12.81. More than a half of all events occurred within one month and over three fourths of ischemic strokes occurred ipsilateral to the RAO.After occurrence of RAO, there is a high risk of a subsequent vascular event, particularly ipsilateral stroke, within one month. LAA is an independent factor for the occurrence of a subsequent vascular event. Management for the prevention of secondary vascular events is necessary in patients with RAO especially with LAA. Large clinical trials are needed to confirm these findings.

  7. Molecular diagnostics for hereditary hearing loss in children.

    Science.gov (United States)

    Sommen, Manou; Wuyts, Wim; Van Camp, Guy

    2017-08-01

    Hearing loss (HL) is the most common birth defect in industrialized countries with far-reaching social, psychological and cognitive implications. It is an extremely heterogeneous disease, complicating molecular testing. The introduction of next-generation sequencing (NGS) has resulted in great progress in diagnostics allowing to study all known HL genes in a single assay. The diagnostic yield is currently still limited, but has the potential to increase substantially. Areas covered: In this review the utility of NGS and the problems for comprehensive molecular testing for HL are evaluated and discussed. Expert commentary: Different publications have proven the appropriateness of NGS for molecular testing of heterogeneous diseases such as HL. However, several problems still exist, such as pseudogenic background of some genes and problematic copy number variant analysis on targeted NGS data. Another main challenge for the future will be the establishment of population specific mutation-spectra to achieve accurate personalized comprehensive molecular testing for HL.

  8. 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.

  9. Contribution of nonprimate animal models in understanding the etiology of schizophrenia

    Science.gov (United States)

    Lazar, Noah L.; Neufeld, Richard W.J.; Cain, Donald P.

    2011-01-01

    Schizophrenia is a severe psychiatric disorder that is characterized by positive and negative symptoms and cognitive impairments. The etiology of the disorder is complex, and it is thought to follow a multifactorial threshold model of inheritance with genetic and neurodevelopmental contributions to risk. Human studies are particularly useful in capturing the richness of the phenotype, but they are often limited to the use of correlational approaches. By assessing behavioural abnormalities in both humans and rodents, nonprimate animal models of schizophrenia provide unique insight into the etiology and mechanisms of the disorder. This review discusses the phenomenology and etiology of schizophrenia and the contribution of current nonprimate animal models with an emphasis on how research with models of neurotransmitter dysregulation, environmental risk factors, neurodevelopmental disruption and genetic risk factors can complement the literature on schizophrenia in humans. PMID:21247514

  10. Molecular Theory of the Living Cell Concepts, Molecular Mechanisms, and Biomedical Applications

    CERN Document Server

    Ji, Sungchul

    2012-01-01

    This book presents a comprehensive molecular theory of the living cell based on over thirty concepts, principles and laws imported from thermodynamics, statistical mechanics, quantum mechanics, chemical kinetics, informatics, computer science, linguistics, semiotics, and philosophy. The author formulates physically, chemically and enzymologically realistic molecular mechanisms to account for the basic living processes such as ligand-receptor interactions, protein folding, single-molecule enzymic catalysis, force-generating mechanisms in molecular motors, signal transduction, regulation of the genome-wide RNA metabolism, morphogenesis, the micro-macro coupling in coordination dynamics, the origin of life, and the mechanisms of biological evolution itself. Possible solutions to basic and practical problems facing contemporary biology and biomedical sciences have been suggested, including pharmacotheragnostics and personalized medicine.

  11. 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.…

  12. 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.

  13. Etiological classifications of transient ischemic attacks: subtype classification by TOAST, CCS and ASCO--a pilot study.

    Science.gov (United States)

    Amort, Margareth; Fluri, Felix; Weisskopf, Florian; Gensicke, Henrik; Bonati, Leo H; Lyrer, Philippe A; Engelter, Stefan T

    2012-01-01

    In patients with transient ischemic attacks (TIA), etiological classification systems are not well studied. The Trial of ORG 10172 in Acute Stroke Treatment (TOAST), the Causative Classification System (CCS), and the Atherosclerosis Small Vessel Disease Cardiac Source Other Cause (ASCO) classification may be useful to determine the underlying etiology. We aimed at testing the feasibility of each of the 3 systems. Furthermore, we studied and compared their prognostic usefulness. In a single-center TIA registry prospectively ascertained over 2 years, we applied 3 etiological classification systems. We compared the distribution of underlying etiologies, the rates of patients with determined versus undetermined etiology, and studied whether etiological subtyping distinguished TIA patients with versus without subsequent stroke or TIA within 3 months. The 3 systems were applicable in all 248 patients. A determined etiology with the highest level of causality was assigned similarly often with TOAST (35.9%), CCS (34.3%), and ASCO (38.7%). However, the frequency of undetermined causes differed significantly between the classification systems and was lowest for ASCO (TOAST: 46.4%; CCS: 37.5%; ASCO: 18.5%; p CCS, and ASCO, cardioembolism (19.4/14.5/18.5%) was the most common etiology, followed by atherosclerosis (11.7/12.9/14.5%). At 3 months, 33 patients (13.3%, 95% confidence interval 9.3-18.2%) had recurrent cerebral ischemic events. These were strokes in 13 patients (5.2%; 95% confidence interval 2.8-8.8%) and TIAs in 20 patients (8.1%, 95% confidence interval 5.0-12.2%). Patients with a determined etiology (high level of causality) had higher rates of subsequent strokes than those without a determined etiology [TOAST: 6.7% (95% confidence interval 2.5-14.1%) vs. 4.4% (95% confidence interval 1.8-8.9%); CSS: 9.3% (95% confidence interval 4.1-17.5%) vs. 3.1% (95% confidence interval 1.0-7.1%); ASCO: 9.4% (95% confidence interval 4.4-17.1%) vs. 2.6% (95% confidence interval

  14. 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

  15. Cancer diagnostics: The journey from histomorphology to molecular profiling.

    Science.gov (United States)

    Ahmed, Atif A; Abedalthagafi, Malak

    2016-09-06

    Although histomorphology has made significant advances into the understanding of cancer etiology, classification and pathogenesis, it is sometimes complicated by morphologic ambiguities, and other shortcomings that necessitate the development of ancillary tests to complement its diagnostic value. A new approach to cancer patient management consists of targeting specific molecules or gene mutations in the cancer genome by inhibitory therapy. Molecular diagnostic tests and genomic profiling methods are increasingly being developed to identify tumor targeted molecular profile that is the basis of targeted therapy. Novel targeted therapy has revolutionized the treatment of gastrointestinal stromal tumor, renal cell carcinoma and other cancers that were previously difficult to treat with standard chemotherapy. In this review, we discuss the role of histomorphology in cancer diagnosis and management and the rising role of molecular profiling in targeted therapy. Molecular profiling in certain diagnostic and therapeutic difficulties may provide a practical and useful complement to histomorphology and opens new avenues for targeted therapy and alternative methods of cancer patient management.

  16. 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)

  17. Urinary Tract Infection in Children: Etiological Structure, Age and Gender Characteristics

    Directory of Open Access Journals (Sweden)

    V.V. Bezruk

    2015-10-01

    Full Text Available Objective. To study the etiological structure of urinary tract infections, dynamics, gender and age dependence in the child population of Chernivtsi region. Patients and methods. During 2009–2013 2432 urine samples of the children treated in health care centers of Chernivtss region were investigated by bacteriological method with purpose of verification of the diagnosis urinary tract infections. Six hundred and fifty five strains of bacteria and fungi were isolated as etiological agents. Results. The patient’s gender was found to correlate with etiological structure of the urinary tract infections and the content of the residential urine microflora. The main etiological role of the Enterobacteriaceae family in general was demonstrated. As a causative agent of the urinary tract infection E.coli has been isolated more frequently in the urine samples of female patients (р < 0.05. In contrary, Proteus spp. has been isolated in male patients (р < 0.01. As a part of the urine resident microflora E.coli strains were more frequently isolated in the female urine samples (р < 0.05. Conclusion. The research will allow to hold the correct and reasoned medical and rehabilitation events on all stages of rendering of specialized medical care for children and to develop the programs directed on the improvement of indicators of health and prevention of disability in children.

  18. Molecular pathogenesis of hepatocellular carcinoma and impact of therapeutic advances

    Science.gov (United States)

    Dhanasekaran, Renumathy; Bandoh, Salome; Roberts, Lewis R.

    2016-01-01

    Hepatocellular carcinoma (HCC) is a leading cause of cancer mortality and has an increasing incidence worldwide. HCC can be induced by multiple etiologies, is influenced by many risk factors, and has a complex pathogenesis. Furthermore, HCCs exhibit substantial heterogeneity, which compounds the difficulties in developing effective therapies against this highly lethal cancer. With advances in cancer biology and molecular and genetic profiling, a number of different mechanisms involved in the development and progression of HCC have been identified. Despite the advances in this area, the molecular pathogenesis of hepatocellular carcinoma is still not completely understood. This review aims to elaborate our current understanding of the most relevant genetic alterations and molecular pathways involved in the development and progression of HCC, and anticipate the potential impact of future advances on therapeutic drug development. PMID:27239288

  19. Psychological treatment for vaginal pain: does etiology matter? A systematic review and meta-analysis.

    Science.gov (United States)

    Flanagan, Esther; Herron, Katherine A; O'Driscoll, Ciarán; Williams, Amanda C de C

    2015-01-01

    Classification of vaginal pain within medical or psychiatric diagnostic systems draws mainly on the presumed presence or absence (respectively) of underlying medical etiology. A focus on the experience of pain, rather than etiology, emphasizes common ground in the aims of treatment to improve pain and sexual, emotional, and cognitive experience. Thus, exploring how vaginal pain conditions with varying etiology respond to psychological treatment could cast light on the extent to which they are the same or distinct. To examine the combined and relative efficacy of psychological treatments for vaginal pain conditions. A systematic search of EMBASE, MEDLINE, PsycINFO, and CINAHL was undertaken. Eleven randomized controlled trials were entered into a meta-analysis, and standardized mean differences and odds ratios were calculated. Effect sizes for individual psychological trial arms were also calculated. Main outcome measures were pain and sexual function. Equivalent effects were found for psychological and medical treatments. Effect sizes for psychological treatment arms were comparable across vaginal pain conditions. Effectiveness was equivalent regardless of presumed medical or psychiatric etiology, indicating that presumed etiology may not be helpful in selecting treatment. Research recommendations and clinical implications are discussed. © 2014 International Society for Sexual Medicine.

  20. 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

  1. The molecular biology of WHO grade I astrocytomas.

    Science.gov (United States)

    Marko, Nicholas F; Weil, Robert J

    2012-12-01

    World Health Organization (WHO) grade I astrocytomas include pilocytic astrocytoma (PA) and subependymal giant cell astrocytoma (SEGA). As technologies in pharmacologic neo-adjuvant therapy continue to progress and as molecular characteristics are progressively recognized as potential markers of both clinically significant tumor subtypes and response to therapy, interest in the biology of these tumors has surged. An updated review of the current knowledge of the molecular biology of these tumors is needed. We conducted a Medline search to identify published literature discussing the molecular biology of grade I astrocytomas. We then summarized this literature and discuss it in a logical framework through which the complex biology of these tumors can be clearly understood. A comprehensive review of the molecular biology of WHO grade I astrocytomas is presented. The past several years have seen rapid progress in the level of understanding of PA in particular, but the molecular literature regarding both PA and SEGA remains nebulous, ambiguous, and occasionally contradictory. In this review we provide a comprehensive discussion of the current understanding of the chromosomal, genomic, and epigenomic features of both PA and SEGA and provide a logical framework in which these data can be more readily understood.

  2. 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...

  3. 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.

  4. 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.

  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. 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

  7. 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.

  8. 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.

  9. 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.

  10. [Etiologies of non-hemolytic jaundice in infants: a retrospective analysis of 3113 cases].

    Science.gov (United States)

    Peng, Xiaorong; Xu, Hongmei

    2015-06-01

    To investigate the causes of non-hemolytic jaundice among infants in Chongqing, China from the period of 1982 to 2011 and to determine whether the etiologies have changed over the past 30 years. The medical records of 3 113 infants,aged 1 month to 1 year,admitted to our hospital with non-hemolytic jaundice were collected and stratified according to decade-long time periods: group A (1982-1991), n=537; group B (1992-2001), n=786; group C (2002-2011), n=1 790. Data on sex, age, etiology and bilirubin level were retrospectively assessed using the chi-square test. In the three groups, boys consistently accounted for the majority of cases (group A:74.3%, group B:66.7%, group C:62.6%). In group A, 52% of the patients were 1-2 months of age; the peak age of patients in both group B and C was 2-3 months (group B:67.8%, group C:61.0%). Group A showed the highest level of patients with mildly elevated total bilirubin level (80.3%); however, moderately elevated total bilirubin level was most frequent in group B (53.4%) and group C (49.7%). The main etiologic diagnoses of the patients in group A were cytomegalovirus (CMV) infection (31.7%), sepsis (18.2%), hepatitis B virus (HBV) (1.3%), and biliary tract anomalies (1.3%); 46.6% of the cases had unclear cause. The main etiologic diagnoses of the cases in group B were CMV infection (36.0%), sepsis (21.5%), breast milk jaundice (2.0%), and HBV (1.9%); 37.9% of the cases had unclear cause. The main etiologic diagnoses of the cases in group C were CMV infection (42.6%), sepsis (7.5%), breast milk jaundice (17.7%), and biliary tract anomalies (2.46%); 29.1% of the cases had unclear cause. In Chongqing, infective factors, especially CMV, remain the main cause of nonhemolytic jaundice in infants, but bacterial etiologies have declined over the past 30 years.Non-infective factors, such as biliary tract anomalies and inherited metabolic diseases, have trended upwards. Although there has been great progress in the clinical management of

  11. Molecular crosstalk between a chemical and a biological stressor and consequences on disease manifestation in rainbow trout

    Science.gov (United States)

    The aim of the present study was to examine the molecular and organism reaction of rainbow trout, Oncorhynchus mykiss, to the combined impact of two environmental stressors. The two stressors were the myxozoan parasite, Tetracapsuloides bryosalmonae, which is the etiological agent of proliferative k...

  12. 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...

  13. 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.

  14. FUNCTION IN BIOLOGY: ETIOLOGICAL AND ORGANIZATIONAL PERSPECTIVES

    Directory of Open Access Journals (Sweden)

    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

  15. Racial Differences by Ischemic Stroke Subtype: A Comprehensive Diagnostic Approach

    Directory of Open Access Journals (Sweden)

    Sarah Song

    2012-01-01

    Full Text Available Background. Previous studies have suggested that black populations have more small-vessel and fewer cardioembolic strokes. We sought to analyze racial differences in ischemic stroke subtype employing a comprehensive diagnostic workup with magnetic resonance-imaging-(MRI- based evaluation including diffusion-weighted imaging (DWI. Methods. 350 acute ischemic stroke patients admitted to an urban hospital with standardized comprehensive diagnostic evaluations were retrospectively analyzed. Ischemic stroke subtype was determined by three Trial of Org 10172 in Acute Stroke Treatment (TOAST classification systems. Results. We found similar proportions of cardioembolic and lacunar strokes in the black and white cohort. The only subtype category with a significant difference by race was “stroke of other etiology,” more common in whites. Black stroke patients were more likely to have an incomplete evaluation, but this did not reach significance. Conclusions. We found similar proportions by race of cardioembolic and lacunar strokes when employing a full diagnostic evaluation including DWI MRI. The relatively high rate of cardioembolism may have been underappreciated in black stroke patients when employing a CT approach to stroke subtype diagnosis. Further research is required to better understand the racial differences in frequency of “stroke of other etiology” and explore disparities in the extent of diagnostic evaluations.

  16. 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.

  17. 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

  18. Current Diagnosis, Treatment and Etiology of Status Epilepticus

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    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. Avoiding Pitfalls in Molecular Genetic Testing: Case Studies of High-Resolution Array Comparative Genomic Hybridization Testing in the Definitive Diagnosis of Mowat-Wilson Syndrome

    OpenAIRE

    Kluk, Michael Joseph; An, Yu; James, Philip; Coulter, David; Harris, David; Wu, Bai-Lin; Shen, Yiping

    2011-01-01

    The molecular testing options available for the diagnosis of genetic disorders are numerous and include a variety of different assay platforms. The consultative input of molecular pathologists and cytogeneticists, working closely with the ordering clinicians, is often important for definitive diagnosis. Herein, we describe two patients who had long histories of unexplained signs and symptoms with a high clinical suspicion of an underlying genetic etiology. Initial molecular testing in both ca...

  20. Inflammation to cancer: The molecular biology in the pancreas (Review)

    OpenAIRE

    LING, SUNBIN; FENG, TINGTING; JIA, KAIQI; TIAN, YU; LI, YAN

    2014-01-01

    Inflammatory responses are known to be correlated with cancer initiation and progression, and exploration of the route from inflammation to cancer makes a great contribution in elucidating the mechanisms underlying cancer development. Pancreatic cancer (PC) is a lethal disease with a low radical-resection rate and a poor prognosis. As chronic pancreatitis is considered to be a significant etiological factor for PC development, the current review aims to describe the molecular pathways from in...

  1. 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

  2. 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

  3. 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

  4. 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

  5. Vaginismus: a review of the literature on the classification/diagnosis, etiology and treatment.

    Science.gov (United States)

    Lahaie, Marie-André; Boyer, Stéphanie C; Amsel, Rhonda; Khalifé, Samir; Binik, Yitzchak M

    2010-09-01

    Vaginismus is currently defined as an involuntary vaginal muscle spasm interfering with sexual intercourse that is relatively easy to diagnose and treat. As a result, there has been a lack of research interest with very few well-controlled diagnostic, etiological or treatment outcome studies. Interestingly, the few empirical studies that have been conducted on vaginismus do not support the view that it is easily diagnosed or treated and have shed little light on potential etiology. A review of the literature on the classification/diagnosis, etiology and treatment of vaginismus will be presented with a focus on the latest empirical findings. This article suggests that vaginismus cannot be easily differentiated from dyspareunia and should be treated from a multidisciplinary point of view.

  6. 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 ...

  7. Molecular Cancer Prevention: Current Status & Future Directions

    Science.gov (United States)

    Maresso, Karen Colbert; Tsai, Kenneth Y.; Brown, Powel H.; Szabo, Eva; Lippman, Scott; Hawk, Ernest

    2016-01-01

    The heterogeneity and complexity of advanced cancers strongly supports the rationale for an enhanced focus on molecular prevention as a priority strategy to reduce the burden of cancer. Molecular prevention encompasses traditional chemopreventive agents as well as vaccinations and therapeutic approaches to cancer-predisposing conditions. Despite challenges to the field, we now have refined insights into cancer etiology and early pathogenesis; successful risk assessment and new risk models; agents with broad preventive efficacy (e.g., aspirin) in common chronic diseases, including cancer; and a successful track record of more than 10 agents approved by the FDA for the treatment of precancerous lesions or cancer risk reduction. The development of molecular preventive agents does not differ significantly from the development of therapies for advanced cancers, yet has unique challenges and special considerations given that it most often involves healthy or asymptomatic individuals. Agents, biomarkers, cohorts, overall design, and endpoints are key determinants of molecular preventive trials, as with therapeutic trials, although distinctions exist for each within the preventive setting. Progress in the development and evolution of molecular preventive agents has been steadier in some organ systems, such as breast and skin, than in others. In order for molecular prevention to be fully realized as an effective strategy, a number of challenges to the field must be addressed. Here we provide a brief overview of the context for and special considerations of molecular prevention along with a discussion of the results of major randomized controlled trials. PMID:26284997

  8. Classification of etiologic subtypes for transient ischemic attacks. Clinical significance of lacunar transient ischemic attack

    International Nuclear Information System (INIS)

    Ohara, Tomoyuki; Yamamoto, Yasumasa; Nagakane, Yoshinari; Tanaka, Eijiro; Morii, Fukiko; Koizumi, Takashi

    2011-01-01

    Lacunar transient ischemic attack (lacunar TIA) may have been underestimated because of diagnostic difficulties. The aim of our study was to classify TIAs by etiologic subtypes, especially using defined criteria for diagnosis of lacunar TIA and clarify clinical characteristics of lacunar TIA.105 TIA patients out of consecutive 1,244 patients with acute ischemic stroke admitted to our hospital between January 2007 and June 2010 were enrolled in the present study. TIA was defined as an acute focal neurological deficit lasting less than 24 hours, suspected to be of cerebrovascular origin regardless of ischemic lesions on MRI. TIAs were classified to 5 etiologic subtypes; cardioembolic TIA, atherothrombotic TIA, lacunar TIA, other etiologies, and undetermined etiology and clinical characteristics in each subtype and the incidence of recurrent stroke after TIA were investigated. Lacunar TIA was diagnosed if the following criteria were fulfilled; presence of lacunar infarct on MRI and/or the presence of unilateral dysfunction of at least two of three body parts (face, arm, leg) in the absence of cortical dysfunction presumed due to subcortical ischemia. Absence of cardiac sources of embolism and large artery atherosclerosis. In 105 patients with TIA, lacunar TIA was the most frequent etiology (31%) followed by cardioembolic TIA (27%), atherothrombotic TIA (19%), undetermined etiology (18%), and other etiologies (6%). In patients with lacunar TIA, history of repeated TIA was more frequent and systolic blood pressure on admission was higher significantly than in cardioembolic TIA. Six of 105 patients had experienced recurrent stroke after TIA during admission. Among these 6 patients, 3 patients were diagnosed as lacunar infarctions. Lacunar TIA was most common TIA subtype in the present study. It is critical to identify lacunar TIA on admission because some patients with lacunar TIAs experience early recurrent stroke. (author)

  9. [Peripheral artery disease in patients younger than 50 years old: Which etiology?].

    Science.gov (United States)

    Cotard, S; Nouni, A; Jaquinandi, V; Gladu, G; Kaladji, A; Mahé, G

    2016-09-01

    Peripheral arterial disease (PAD) encompasses disease of all arteries of the body except the coronary arteries. The main etiology whatever the patient's age is atherosclerosis. Different etiologies can induce PAD especially when patients are younger than 50 years old and have no cardiovascular risk factors (smoking, hypertension, diabetes…). PAD that appears before 50 years old can be named juvenile PAD (JPAD) although there is no consensus about the definition. The aim of this work is to present the different etiologies of JPAD according to their hereditary, acquired or mixed origins. The following hereditary causes are addressed: Marfan syndrome, Ehlers-Danlos syndrome, homocystinuria, pseudoxanthoma elasticum, osteogenesis imperfecta "mid-aortic" syndrome. Among the acquired etiologies, inflammatory JPADs without extravascular signs such as atherosclerosis and Buerger's disease, inflammatory JPADs with extravascular signs as Takayasu's disease, Behçet's disease and Cogan's syndrome, JPADs like aortitis, embolic JPADs, iatrogenic JPADs, and mechanical or traumatic JPADs are described. Finally, mixed origins as thrombotic disease and fibromuscular dysplasia are presented. This work will assist clinicians in the diagnosis of JPAD. Copyright © 2016 Elsevier Masson SAS. All rights reserved.

  10. 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 ...

  11. 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

  12. Genetic factors and molecular mechanisms in dry eye disease.

    Science.gov (United States)

    Lee, Ling; Garrett, Qian; Flanagan, Judith; Chakrabarti, Subhabrata; Papas, Eric

    2018-04-01

    Dry eye disease (DED) is a complex condition with a multifactorial etiology that can be difficult to manage successfully. While external factors are modifiable, treatment success is limited if genetic factors contribute to the disease. The purpose of this review is to compile research describing normal and abnormal ocular surface function on a molecular level, appraise genetic studies involving DED or DED-associated diseases, and introduce the basic methods used for conducting genetic epidemiology studies. Copyright © 2018 Elsevier Inc. All rights reserved.

  13. 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.

  14. Etiology and characteristics of large symptomatic pericardial effusion in a community hospital in the contemporary era.

    Science.gov (United States)

    Abdallah, R; Atar, S

    2014-05-01

    The etiology and laboratory characteristics of large symptomatic pericardial effusion (LSPE) in the Western world have evolved over the years, and vary between regions, community and tertiary hospitals. We reviewed data of 86 consecutive patients who underwent pericardiocentesis or pericardial window due to LSPE in a community hospital from 2001 to 2010. The characteristics of the PE including chemistry, hematology, bacteriology, serology and cytology have been analyzed. We correlated the etiologies of PE with age, gender and clinical presentation. The most frequent etiology of LSPE was idiopathic [36% (77% with a clinical diagnosis of pericarditis)], followed by malignancy (31.4%), ischemic heart disease (16.3%), renal failure (4.6%), trauma (4.6%) and autoimmune disease (4.6%). The average age of all the etiological groups excluding trauma was over 50 years. Laboratory tests did not modify the pre-procedure diagnosis in any of the patients. The most frequent presenting symptom was dyspnea (76.6%). Chest pain was mostly common in patients with idiopathic etiology (58.06%). The most frequent medical condition associated with LSPE was the use of anticoagulant or antiplatelet drugs (31.40%), especially aspirin, and in those, the PE tended to be bloody (73%, P = 0.11). Most of the effusions were exudates (70.9%). PE due to renal failure was the largest (1467 ± 1387 ml). The spectrum of etiologies of LSPE in a community hospital in the Western world in the contemporary era is continuously evolving. The most frequent etiology is now idiopathic, followed by malignancy. Routine laboratory testing still rarely modifies the pre-procedure diagnosis.

  15. 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.

  16. Comprehensive allelotype and genetic anaysis of 466 human nervous system tumors

    DEFF Research Database (Denmark)

    von Deimling, A; Fimmers, R; Schmidt, M C

    2000-01-01

    Brain tumors pose a particular challenge to molecular oncology. Many different tumor entities develop in the nervous system and some of them appear to follow distinct pathogenic routes. Molecular genetic alterations have increasingly been reported in nervous system neoplasms. However......, a considerable number of affected genes remain to be identified. We present here a comprehensive allelotype analysis of 466 nervous system tumors based on loss of heterozygosity (LOH) studies with 129 microsatellite markers that span the genome. Specific alterations of the EGFR, CDK4, CDKN2A, TP53, DMBT1, NF2...... may provide a valuable framework for future studies to delineate molecular pathways in many types of human central nervous system tumors....

  17. Síndromes mielodisplásicas: aspectos moleculares, laboratoriais e a classificação OMS 2008 Myelodysplasic symdrome: molecular and laboratorial aspects and the 2008 WHO classification

    Directory of Open Access Journals (Sweden)

    Ana Carolina R. Moraes

    2009-01-01

    defined etiology, or as secondary to chemotherapy or radiotherapy for other neoplasias. The evolution of diagnostic tests has improved comprehension of the process involved in the genesis and evolution of MDSs, making the development of earlier and more specific tests for diagnosis and follow ups possible. In 2008, the World Health Organization (WHO redefined the criteria for the classification of MDSs, dividing them into seven subgroups. This classification included new immunophenotypic, genetic, cytomorphologic and molecular features, which are essential for the diagnosis of MDSs and for a better comprehension of the disease. Despite technological advances, some details, such as the molecular basis of the transformation of MDS to AML, are still not completely understood, which makes further studies in this field necessary. Hence, the objective of this review is to make a compilation of recent molecular and laboratory aspects of MDS.

  18. 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.

  19. Molecular approaches to child psychopathology.

    Science.gov (United States)

    Alsobrook, J P; Pauls, D L

    1998-04-01

    Basic research into the genetics of childhood psychiatric disorders has substantially increased during the last two decades. Specific genetic mutations have been characterized in some developmental disorders (e.g., fragile X syndrome and Prader-Willi syndrome), but thus far identification of etiological gene mutations in psychiatric illnesses has been unsuccessful. Several psychiatric disorders serve as examples of the current state of molecular approaches in child psychopathology. Investigations to date of Gilles de la Tourette's syndrome (GTS) have not resulted in the discovery of a gene of major effect. Some studies have implicated the D2 and D4 dopamine receptors as having a direct role in the etiology of GTS, but other studies have disputed those findings. However, the dopamine D2 receptor may modulate the severity of GTS. Obsessive-compulsive disorder has a reported association with a low-activity allele of the enzyme catechol-O-methyltransferase; however, the low-activity genotype is also seen in a significant proportion of unaffected individuals. For reading disability two distinct phenotypes (phonological awareness and single-word reading) have been linked to separate loci on chromosomes 6 and 15. Attention deficit hyperactivity disorder (ADHD) has a reported association with the dopamine transporter. Findings of a genetic locus for the personality trait of novelty seeking remain controversial.

  20. 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 ...

  1. 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.

  2. 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...

  3. 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...

  4. Lesiones medulares no traumáticas: etiología, demografía y clínica Nontraumatic spinal cord injury: etiology, demography and clinics

    Directory of Open Access Journals (Sweden)

    Asencio Quintana-Gonzales

    2011-12-01

    Full Text Available Se realizó un estudio retrospectivo y descriptivo en 210 pacientes hospitalizados con lesión medular del Instituto Nacional de Rehabilitación (INR, Callao-Perú (2000-2006 para conocer la etiología, características clínicas y socio-demográficas de los pacientes con lesiones medulares no traumáticas (LMNT. Se encontró una prevalencia de 27 % para LMNT siendo la edad promedio al inicio de la lesión 32,0 años; siendo varones el 50,5 %, y el 41,9 % tuvieron educación secundaría, el nivel de pobreza alcanzó el 90,5 %. Predominó la etiología infecciosa (viral y bacteriana en 37,6 %, con un 11,9 % de infección por HTLVI. No obstante ser el INR un centro de referencia, nuestros resultados son preliminares, siendo necesario realizar mayores estudios para proponer estrategias de prevención y control, dado el alto costo del tratamiento integral de rehabilitación en estos pacientes.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 infectious etiology (viral and bacterial was predominant in 37.6 %, with 11.9 infected with HTLVI. Although the INR is a reference center, the findings can’t be generalized because it isn’t a representative sample of the Peruvian population, further studies are necessary to propose strategies for prevention and control, considering the high cost of integral rehabilitation treatment in these patients.

  5. Molecular Pathology of Human Prion Diseases

    Directory of Open Access Journals (Sweden)

    2009-03-01

    Full Text Available Prion diseases are fatal neurodegenerative conditions in humans and animals. In this review, we summarize the molecular background of phenotypic variability, relation of prion protein (PrP to other proteins associated with neurodegenerative diseases, and pathogenesis of neuronal vulnerability. PrP exists in different forms that may be present in both diseased and non-diseased brain, however, abundant disease-associated PrP together with tissue pathology characterizes prion diseases and associates with transmissibility. Prion diseases have different etiological background with distinct pathogenesis and phenotype. Mutations of the prion protein gene are associated with genetic forms. The codon 129 polymorphism in combination with the Western blot pattern of PrP after proteinase K digestion serves as a basis for molecular subtyping of sporadic Creutzfeldt-Jakob disease. Tissue damage may result from several parallel, interacting or subsequent pathways that involve cellular systems associated with synapses, protein processing, oxidative stress, autophagy, and apoptosis.

  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. Transport properties of molecular junctions

    CERN Document Server

    Zimbovskaya, Natalya A

    2013-01-01

    A comprehensive overview of the physical mechanisms that control electron transport and the characteristics of metal-molecule-metal (MMM) junctions is presented. As far as possible, methods and formalisms presented elsewhere to analyze electron transport through molecules are avoided. This title introduces basic concepts—a description of the electron transport through molecular junctions—and briefly describes relevant experimental methods. Theoretical methods commonly used to analyze the electron transport through molecules are presented. Various effects that manifest in the electron transport through MMMs, as well as the basics of density-functional theory and its applications to electronic structure calculations in molecules are presented. Nanoelectronic applications of molecular junctions and similar systems are discussed as well. Molecular electronics is a diverse and rapidly growing field. Transport Properties of Molecular Junctions presents an up-to-date survey of the field suitable for researchers ...

  8. Study of acute undifferentiated fever cases and their etiologies in rural Konkan area of Maharashtra state

    Directory of Open Access Journals (Sweden)

    Patil S. N

    2016-08-01

    Full Text Available Background: Acute undifferentiated fever (AUF is a common cause for which the patients seek health care in India. It is region specific and has similar clinical presentation, with varied etiologies. Due to this it posses challenge to the diagnosis, treatment and public health. Majority of patients present with nondescript symptoms. Scrub typhus, Malaria, Enteric Fever, Dengue, Leptospirosis, Chikungunya, Spotted fever, Rickettsiosis, Hantavirus, Q fever, Brucellosis, Influenza and other bacterial infections are some of the common etiologies of AUF. The prevalence of local AUF etiologies helps to prioritize differential diagnosis and guide the treatment. The study aimed to find out the predominant AUF etiologies in the rural Konkan area of Maharashtra state in India. Materials and Methods: This prospective observational study was conducted at a tertiary care hospital on the samples received from District hospitals and Primary health centers from Sindhudurg District of Maharashtra state for the duration of October 2012 to January 2014. Patients with age 5years and with classical symptoms of febrile illness were included in the study. About 500 blood samples received were investigated for Malaria, Bacterial culture sensitivity, Leptospira culture, ELISA for scrub typhus, Brucella, Dengue and Leptospira and further evaluated for commonest region specific AUF etiology. Results: The study included 500 blood samples obtained from patients presenting with classical symptoms of AUF. Samples received from males showed highest number of positive cases amounting for 82.47% with majority of cases (83% cases in middle age group. The sero-positivity of samples accounted for 42.8%. Brucella was the most common cause of AUF (28.50% followed by Leptospira (27.10% and Scrub typhus (21.49%. Interestingly there were no positive cases of malaria and only 11.21% samples positive for Dengue which are considered as most common AUF etiologies and treated accordingly

  9. Military service, deployments, and exposures in relation to amyotrophic lateral sclerosis etiology and survival.

    Science.gov (United States)

    Beard, John D; Kamel, Freya

    2015-01-01

    Rates of amyotrophic lateral sclerosis (ALS) have been reported to be higher among US military veterans, who currently number more than 21 million, but the causal factor(s) has not been identified. We conducted a review to examine the weight of evidence for associations between military service, deployments, and exposures and ALS etiology and survival. Thirty articles or abstracts published through 2013 were reviewed. Although the current evidence suggests a positive association with ALS etiology, it is too limited to draw firm conclusions regarding associations between military service and ALS etiology or survival. Some evidence suggests that deployment to the 1990-1991 Persian Gulf War may be associated with ALS etiology, but there is currently no strong evidence that any particular military exposure is associated with ALS etiology. Future studies should address the limitations of previous ones, such as reliance on mortality as a surrogate for incidence, a dearth of survival analyses, lack of clinical data, low statistical power, and limited exposure assessment. The Genes and Environmental Exposures in Veterans with Amyotrophic Lateral Sclerosis (GENEVA) Study is one such study, but additional research is needed to determine whether military-related factors are associated with ALS and to assess potential prevention strategies. Published by Oxford University Press on behalf of the Johns Hopkins Bloomberg School of Public Health 2014. This work is written by (a) US Government employee(s) and is in the public domain in the US.

  10. Morphological and molecular characterization of L-methioninase ...

    African Journals Online (AJOL)

    Six species of L-methioninase producing Aspergillus species, isolated from Egyptian soil, were selected for comprehensive morphotypic and molecular characterization. Based on morphological and physiological features, these isolates were identified as Aspergillus flavipes, Aspergillus carneus, Aspergillus flavus, ...

  11. Persistent Tachypnea and Alveolar Hemorrhage in an Infant: An Unexpected Etiology

    Directory of Open Access Journals (Sweden)

    John Bishara

    2016-01-01

    Full Text Available Persistent tachypnea and failure to thrive during infancy have a broad differential diagnosis which includes pulmonary and cardiovascular disorders. Diffuse alveolar hemorrhage (DAH is a rare entity in children. DAH requires an extensive work-up as certain conditions may need chronic therapy. Cardiovascular disorders are included in the etiology of DAH. We present a case of an 8-month-old female with a moderate, restrictive patent ductus arteriosus (PDA admitted to the hospital with respiratory distress and failure to thrive. An extensive work-up into tachypnea including multiple echocardiograms did not find an etiology. Open lung biopsy was performed and consistent with pulmonary hypertension. After closure of the PDA, patient’s tachypnea improved, and she was discharged home with periodic follow-up showing a growing, thriving child. When an infant presents with tachypnea, a respiratory viral illness is often a common cause. The diagnosis of persistent tachypnea requires further investigation. Echocardiography, although readily available, may not always be sensitive in detecting clinically significant pulmonary hypertension. A clinician must have a heightened index of suspicion to proceed in evaluating for causes of tachypnea with a nonrespiratory etiology.

  12. 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

  13. 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.

  14. 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

  15. [Etiology of acute and chronic pyelonephritis in children in Khabarovsk region].

    Science.gov (United States)

    Kozlova, E A; Kholodok, G N; Alekseeva, I N; Kozlov, V K

    2008-01-01

    Microflora of urinary tract was studied in 419 children aged 1 - 17 years and hospitalized due to acute or chronic pyelonephritis. Etiology of inflammatory process was established in 57.8% of cases. According to our study, etiologic structure of causative agents of pyelonephritis did not differ from all-Russian data. The leading positions belonged to Gram-negative microorganisms from Enterobacteriaceae family: Escherichia coli, Proteus mirabilis, and Klebsiella spp. Results of the study point to high susceptibility of main causative agents of pyelonephritis to cephalosporins, aminoglycosides, and fluoroquinolones. High resistance to aminopenicillines was noted. In several isolates from Enterobacteriaceae family significant resistance to nalidixic acid and furazidin was observed.

  16. 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.

  17. Spontaneous Rupture of the Extensor Pollicis Longus Tendon due to Unusual Etiology

    Directory of Open Access Journals (Sweden)

    Süleyman Taş

    2014-03-01

    Full Text Available Background: The etiology of spontaneous rupture of the extensor pollicis longus tendon includes systemic or local steroid injections, wrist fracture, tenosynovitis, synovitis, rheumatoid arthritis, and repetitive wrist motions. Case Report: We encountered a case of extensor pollicis longus tendon rupture with an unusual etiology, cow milking. In this case, transfer of the extensor indicis proprius tendon was performed successfully. At 1 year after surgery, extension of the thumb was sufficient. Conclusion: It appears that patients with occupations involving repetitive motions are at a high risk of closed tendon ruptures.

  18. 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...

  19. 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) ...

  20. 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

  1. 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.

  2. 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

  3. 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.

  4. Incidence, Prevalence, Etiology, and Prognosis of First-Time Chronic Pancreatitis in Young Patients: A Nationwide Cohort Study

    DEFF Research Database (Denmark)

    Jørgensen, Maiken Thyregod; Brusgaard, Klaus; Crüger, Dorthe Gylling

    2010-01-01

    BACKGROUND/AIMS: Publications on etiology of chronic pancreatitis (CP) are infrequent. Etiologies today encompass genetic disorders. We wanted to describe etiologies of today and identify patients with genetic disorders like hereditary pancreatitis (HP), mutations in Serine Protease Inhibitor Kazal......,000 person years in 1980-1984 to 17.0 per 100,000 in 2000-2004 (p alcohol-induced CP decreased over time. OR having idiopathic CP increased in the latter period; 50% of patients...

  5. Autism-specific copy number variants further implicate the phosphatidylinositol signaling pathway and the glutamatergic synapse in the etiology of the disorder.

    Science.gov (United States)

    Cuscó, Ivon; Medrano, Andrés; Gener, Blanca; Vilardell, Mireia; Gallastegui, Fátima; Villa, Olaya; González, Eva; Rodríguez-Santiago, Benjamín; Vilella, Elisabet; Del Campo, Miguel; Pérez-Jurado, Luis A

    2009-05-15

    Autism spectrum disorders (ASDs) constitute a group of severe neurodevelopmental conditions with complex multifactorial etiology. In order to explore the hypothesis that submicroscopic genomic rearrangements underlie some ASD cases, we have analyzed 96 Spanish patients with idiopathic ASD after extensive clinical and laboratory screening, by array comparative genomic hybridization (aCGH) using a homemade bacterial artificial chromosome (BAC) array. Only 13 of the 238 detected copy number alterations, ranging in size from 89 kb to 2.4 Mb, were present specifically in the autistic population (12 out of 96 individuals, 12.5%). Following validation by additional molecular techniques, we have characterized these novel candidate regions containing 24 different genes including alterations in two previously reported regions of chromosome 7 associated with the ASD phenotype. Some of the genes located in ASD-specific copy number variants act in common pathways, most notably the phosphatidylinositol signaling and the glutamatergic synapse, both known to be affected in several genetic syndromes related with autism and previously associated with ASD. Our work supports the idea that the functional alteration of genes in related neuronal networks is involved in the etiology of the ASD phenotype and confirms a significant diagnostic yield for aCGH, which should probably be included in the diagnostic workup of idiopathic ASD.

  6. 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.

  7. 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

  8. 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

  9. 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

  10. Ochratoxin A: General Overview and Actual Molecular Status

    International Nuclear Information System (INIS)

    El Khoury, A.; Atoui, A.

    2010-01-01

    Ochratoxin A (OTA) is a mycotoxin produced by several species of Aspergillus and Penicillium fungi that structurally consists of a para-chlorophenolic group containing a dihydroisocoumarin moiety that is amide-linked to L-phenylalanine. OTA is detected worldwide in various food and feed sources. Studies show that this molecule can have several toxicological effects such as nephrotoxic, hepatotoxic, neurotoxic, teratogenic and immunotoxic. A role in the etiology of Balkan endemic nephropathy and its association to urinary tract tumors has been also proved. In this review, we will explore the general aspect of OTA: physico-chemical properties, toxicological profile, OTA producing fungi, contaminated food, regulation, legislation and analytical methods. Due to lack of sufficient information related to the molecular background, this paper will discuss in detail the recent advances in molecular biology of OTA biosynthesis, based on information and on new data about identification and characterization of ochratoxin biosynthetic genes in both Penicillium and Aspergillus species. This review will also cover the development of the molecular methods for the detection and quantification of OTA producing fungi in various foodstuffs. (author)

  11. Etiologic Subtypes, Risk Factors, and Outcomes of Acute Ischemic Stroke in Young Patients

    Directory of Open Access Journals (Sweden)

    İnci Şule Özer

    2015-04-01

    Full Text Available Objective: Stroke in people aged less than 45 years is less frequent than in older patients, but has major impacts on both the individual and society. The aim of this study was to determine the etiologic subtypes of acute ischemic stroke in the young. Materials and Methods: We reviewed the hospital records of 619 patients who were admitted with acute ischemic stroke between January 2011 and November 2014. Acute ischemic stroke in the young was defined as patients aged 45 years and under. Demographic data, the National Institutes of Health Stroke Scale (NIHSS scores at admission and detailed investigations aimed at determining etiologic cause were recorded. Etiologic stroke subtypes were determined using the automated Causative Classification System. Modified Rankin Scale (mRS scores were recorded in the follow-up. Results: There were 32 (5.2% young patients with acute ischemic stroke. The rates of hypertension, diabetes mellitus, atrial fibrillation, and coronary artery disease were significantly lower in young patients compared with patients aged more than 45 years (p<0.05. The mean NIHSS score at admission and hospital mortality was significantly lower in patients aged 45 years and under compared with those older than 45 years (p=0.006, p=0.043. Cardioaortic embolism was the most common etiologic stroke subtype in both groups. Other causes were significantly more frequent in the young acute ischemic stroke group compared with the older patients. The median follow-up mRS was significantly lower in patients aged 45 years and under compared with those older than 45 years (p<0.001. Conclusion: Young patients with ischemic stroke have different risk factors, stroke etiology, stroke severity and prognosis compared with patients older than 45 years with the same condition

  12. Etiologic pattern of genital ulcers in Lusaka, Zambia: has chancroid been eliminated?

    Science.gov (United States)

    Makasa, Mpundu; Buve, Anne; Sandøy, Ingvild Fossgard

    2012-10-01

    Genital ulcers are a public health problem in developing countries. The World Health Organization recommends the use of syndromic guidelines for sexually transmitted infection treatment in resource-constrained countries. Monitoring local etiologies provides information that may aid policy for sexually transmitted infection treatment. We investigated the etiology of genital ulcer disease among outpatients in Lusaka, Zambia. Swabs from genital ulcers of 200 patients were tested using polymerase chain reaction for Treponema pallidum, herpes simplex virus types 1 (HSV-1) and 2 (HSV-2), Haemophilus ducreyi, and Chlamydia trachomatis. The prevalence of the detected pathogens was as follows; HSV-2, 28%; T. pallidum, 11.5%; C. trachomatis, 3%; HSV-1, 0.5%; and H. ducreyi, 0%. Coinfection with HSV-2 and T. pallidum was 1.5%, and coinfection of HSV-2 and C. trachomatis was 1%. In 55% of the patients, no etiologic diagnosis could be established. H. ducreyi was not detected, whereas HSV-2 and T. pallidum were the commonest pathogens. Nondetection of H. ducreyi requires further studies. If the present findings are validated, treatment guidelines would require to be revised in Zambia.

  13. Post-stroke hemiparesis: Does chronicity, etiology, and lesion side are associated with gait pattern?

    Science.gov (United States)

    Gama, Gabriela Lopes; Larissa, Coutinho de Lucena; Brasileiro, Ana Carolina de Azevedo Lima; Silva, Emília Márcia Gomes de Souza; Galvão, Élida Rayanne Viana Pinheiro; Maciel, Álvaro Cavalcanti; Lindquist, Ana Raquel Rodrigues

    2017-07-01

    Studies that evaluate gait rehabilitation programs for individuals with stroke often consider time since stroke of more than six months. In addition, most of these studies do not use lesion etiology or affected cerebral hemisphere as study factors. However, it is unknown whether these factors are associated with post-stroke motor performance after the spontaneous recovery period. To investigate whether time since stroke onset, etiology, and lesion side is associated with spatiotemporal and angular gait parameters of individuals with chronic stroke. Fifty individuals with chronic hemiparesis (20 women) were evaluated. The sample was stratified according to time since stroke (between 6 and 12 months, between 13 and 36 months, and over 36 months), affected cerebral hemisphere (left or right) and lesion etiology (ischemic and hemorrhagic). The participants were evaluated during overground walking at self-selected gait speed, and spatiotemporal and angular gait parameters were calculated. Results Differences between gait speed, stride length, hip flexion, and knee flexion were observed in subgroups stratified based on lesion etiology. Survivors of a hemorrhagic stroke exhibited more severe gait impairment. Subgroups stratified based on time since stroke only showed intergroup differences for stride length, and subgroups stratified based on affected cerebral hemisphere displayed between-group differences for swing time symmetry ratio. In order to recruit a more homogeneous sample, more accurate results were obtained and an appropriate rehabilitation program was offered, researchers and clinicians should consider that gait pattern might be associated with time since stroke, affected cerebral hemisphere and lesion etiology.

  14. 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.

  15. Review: Recent Finding about Etiology of

    Directory of Open Access Journals (Sweden)

    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.

  16. Redefining the endophenotype concept to accommodate transdiagnostic vulnerabilities and etiological complexity.

    Science.gov (United States)

    Beauchaine, Theodore P; Constantino, John N

    2017-09-11

    In psychopathology research, endophenotypes are a subset of biomarkers that indicate genetic vulnerability independent of clinical state. To date, an explicit expectation is that endophenotypes be specific to single disorders. We evaluate this expectation considering recent advances in psychiatric genetics, recognition that transdiagnostic vulnerability traits are often more useful than clinical diagnoses in psychiatric genetics, and appreciation for etiological complexity across genetic, neural, hormonal and environmental levels of analysis. We suggest that the disorder-specificity requirement of endophenotypes be relaxed, that neural functions are preferable to behaviors as starting points in searches for endophenotypes, and that future research should focus on interactive effects of multiple endophenotypes on complex psychiatric disorders, some of which are 'phenocopies' with distinct etiologies.

  17. LTR-retrotransposons-based molecular markers in cultivated ...

    African Journals Online (AJOL)

    GRACE

    2006-07-03

    Jul 3, 2006 ... LTR-retrotransposons represent a standard component of the Gossypium Genome (Zaki and Abdel Ghany,. 2003). The analysis of the molecular existence and distribution of ancient and active LTR-retrotransposons, therefore, provides a comprehensive evaluation of the evolutionary history of Gossypium.

  18. Etiology of Bronchiectasis in a Cohort of 2047 Patients. An Analysis of the Spanish Historical Bronchiectasis Registry.

    Science.gov (United States)

    Olveira, Casilda; Padilla, Alicia; Martínez-García, Miguel-Ángel; de la Rosa, David; Girón, Rosa-María; Vendrell, Montserrat; Máiz, Luis; Borderías, Luis; Polverino, Eva; Martínez-Moragón, Eva; Rajas, Olga; Casas, Francisco; Cordovilla, Rosa; de Gracia, Javier

    2017-07-01

    Bronchiectasis is caused by many diseases. Establishing its etiology is important for clinical and prognostic reasons. The aim of this study was to evaluate the etiology of bronchiectasis in a large patient sample and its possible relationship with demographic, clinical or severity factors, and to analyze differences between idiopathic disease, post-infectious disease, and disease caused by other factors. Multicenter, cross-sectional study of the SEPAR Spanish Historical Registry (RHEBQ-SEPAR). Adult patients with bronchiectasis followed by pulmonologists were included prospectively. Etiological studies were based on guidelines and standardized diagnostic tests included in the register, which were later included in the SEPAR guidelines on bronchiectasis. A total of 2,047 patients from 36 Spanish hospitals were analyzed. Mean age was 64.9years and 54.9% were women. Etiology was identified in 75.8% of cases (post-Infection: 30%; cystic fibrosis: 12.5%; immunodeficiencies: 9.4%; COPD: 7.8%; asthma: 5.4%; ciliary dyskinesia: 2.9%, and systemic diseases: 1.4%). The different etiologies presented different demographic, clinical, and microbiological factors. Post-infectious bronchiectasis and bronchiectasis caused by COPD and asthma were associated with an increased risk of poorer lung function. Patients with post-infectious bronchiectasis were older and were diagnosed later. Idiopathic bronchiectasis was more common in female non-smokers and was associated with better lung function, a higher body mass index, and a lower rate of Pseudomonas aeruginosa than bronchiectasis of known etiology. The etiology of bronchiectasis was identified in a large proportion of patients included in the RHEBQ-SEPAR registry. Different phenotypes associated with different causes could be identified. Copyright © 2016 SEPAR. Publicado por Elsevier España, S.L.U. All rights reserved.

  19. 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.

  20. 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

  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. 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

  3. 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

  4. Etiological features of borderline personality related characteristics in a birth cohort of 12-year-old children.

    Science.gov (United States)

    Belsky, Daniel W; Caspi, Avshalom; Arseneault, Louise; Bleidorn, Wiebke; Fonagy, Peter; Goodman, Marianne; Houts, Renate; Moffitt, Terrie E

    2012-02-01

    It has been reported that borderline personality related characteristics can be observed in children, and that these characteristics are associated with increased risk for the development of borderline personality disorder. It is not clear whether borderline personality related characteristics in children share etiological features with adult borderline personality disorder. We investigated the etiology of borderline personality related characteristics in a longitudinal cohort study of 1,116 pairs of same-sex twins followed from birth through age 12 years. Borderline personality related characteristics measured at age 12 years were highly heritable, were more common in children who had exhibited poor cognitive function, impulsivity, and more behavioral and emotional problems at age 5 years, and co-occurred with symptoms of conduct disorder, depression, anxiety, and psychosis. Exposure to harsh treatment in the family environment through age 10 years predicted borderline personality related characteristics at age 12 years. This association showed evidence of environmental mediation and was stronger among children with a family history of psychiatric illness, consistent with diathesis-stress models of borderline etiology. Results indicate that borderline personality related characteristics in children share etiological features with borderline personality disorder in adults and suggest that inherited and environmental risk factors make independent and interactive contributions to borderline etiology.

  5. Molecular analysis of the oral microbiota of dental diseases

    OpenAIRE

    Kanasi, Eleni

    2008-01-01

    Traditionally, bacterial culture has been used for bacterial detection, allowing study of living microorganisms. Molecular methods are rapid and allow simultaneous identification of numerous species and uncultivated phylotypes. The objective of this doctoral thesis was to investigate the role of the oral microbiota, including poorly characterized and uncultivated bacteria, in dental caries and periodontitis, by comprehensive molecular, clinical, and statistical methods. The microbiota of 275 ...

  6. 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.

  7. Thought-action fusion: a comprehensive analysis using structural equation modeling.

    Science.gov (United States)

    Marino, Teresa L; Lunt, Rachael A; Negy, Charles

    2008-07-01

    Thought-action fusion (TAF), the phenomenon whereby one has difficulty separating cognitions from corresponding behaviors, has implications in a wide variety of disturbances, including eating disorders, obsessive-compulsive disorder, generalized anxiety disorder, and panic disorder. Numerous constructs believed to contribute to the etiology or maintenance of TAF have been identified in the literature, but to date, no study has empirically integrated these findings into a comprehensive model. In this study, we examined simultaneously an array of variables thought to be related to TAF, and subsequently developed a model that elucidates the role of those variables that seem most involved in this phenomenon using a structural equation modeling approach. Results indicated that religiosity, as predicted by ethnic identity, was a significant predictor of TAF. Additionally, the relation between ethnic identity and TAF was partially mediated by an inflated sense of responsibility. Both TAF and obsessive-compulsive symptoms were found to be significant predictors of engagement in neutralization activities. Clinical and theoretical implications are discussed.

  8. Molecular biodiversity of Red Sea demosponges

    KAUST Repository

    Erpenbeck, Dirk

    2016-01-07

    Sponges are important constituents of coral reef ecosystems, including those around the Arabian Peninsula. Despite their importance, our knowledge on demosponge diversity in this area is insufficient to recognize, for example, faunal changes caused by anthropogenic disturbances. We here report the first assessment of demosponge molecular biodiversity from Arabia, with focus on the Saudi Arabian Red Sea, based on mitochondrial and nuclear ribosomal molecular markers gathered in the framework of the Sponge Barcoding Project. We use a rapid molecular screening approach on Arabian demosponge collections and analyze results in comparison against published material in terms of biodiversity. We use a variable region of 28S rDNA, applied for the first time in the assessment of demosponge molecular diversity. Our data constitutes a solid foundation for a future more comprehensive understanding of sponge biodiversity of the Red Sea and adjacent waters.

  9. Molecular biodiversity of Red Sea demosponges

    KAUST Repository

    Erpenbeck, Dirk; Voigt, Oliver; Al-Aidaroos, Ali M.; Berumen, Michael L.; Bü ttner, Gabriele; Catania, Daniela; Guirguis, Adel Naguib; Paulay, Gustav; Schä tzle, Simone; Wö rheide, Gert

    2016-01-01

    Sponges are important constituents of coral reef ecosystems, including those around the Arabian Peninsula. Despite their importance, our knowledge on demosponge diversity in this area is insufficient to recognize, for example, faunal changes caused by anthropogenic disturbances. We here report the first assessment of demosponge molecular biodiversity from Arabia, with focus on the Saudi Arabian Red Sea, based on mitochondrial and nuclear ribosomal molecular markers gathered in the framework of the Sponge Barcoding Project. We use a rapid molecular screening approach on Arabian demosponge collections and analyze results in comparison against published material in terms of biodiversity. We use a variable region of 28S rDNA, applied for the first time in the assessment of demosponge molecular diversity. Our data constitutes a solid foundation for a future more comprehensive understanding of sponge biodiversity of the Red Sea and adjacent waters.

  10. Penile manipulation: The most common etiology of penile fracture at our tertiary care center

    Directory of Open Access Journals (Sweden)

    Md. Jawaid Rahman

    2016-01-01

    Full Text Available Penile fracture is the disruption of the tunica albuginea with rupture of the corpus cavernosum secondary to blunt trauma to the erect penis. It is an unusual condition, usually underreported. According to the published literature, vigorous vaginal intercourse with women on top position is the most common etiology across the globe including India with Middle Eastern countries being the exception. A total of seven patients of penile fracture presented in emergency in the last 6 months. The etiology was penile manipulation at the time of sexual excitement in six out of seven patients of penile fracture, which was contrary to the literature published except in Middle Eastern countries. All the patients were managed by emergency exploration and repair. Thus, the incidence and etiologies of penile fracture vary according to geographic region, sexual behavior, marital status, and culture.

  11. 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.

  12. 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.

  13. Risk factor and etiology analysis of ischemic stroke in young adult patients.

    Science.gov (United States)

    Renna, Rosaria; Pilato, Fabio; Profice, Paolo; Della Marca, Giacomo; Broccolini, Aldobrando; Morosetti, Roberta; Frisullo, Giovanni; Rossi, Elena; De Stefano, Valerio; Di Lazzaro, Vincenzo

    2014-03-01

    Approximately 10%-14% of ischemic strokes occur in young adults. To investigate risk factors and etiologies of strokes of young adults admitted to the "stroke unit" of Policlinico "Gemelli" of Rome from December 2005 to January 2013. In all, 150 consecutive patients younger than 50 years diagnosed with ischemic stroke were enrolled. Clinical evaluation consisted of a complete neurologic examination and the National Institutes of Health Stroke Scale. Diagnostic workup consisted of anamnesis, extensive laboratory, radiologic, and cardiologic examination. Stroke etiologies were classified according to the Trial of Org 10172 in Acute Stroke Treatment. Patients' mean age was 41 ± 8.0 years. The most common risk factors were dyslipidemia (52.7%), smoking (47.3%), hypertension (39.3%), and patent foramen ovale (PFO, 32.8%). Large-artery atherosclerosis was diagnosed as the cause of stroke in 17 patients (11.3%). Cardioembolism was presumed in 36 patients (24%), most of them presented a PFO at transesophageal echocardiography. Small-vessel occlusion was diagnosed in 12 patients (8%); all of them were hypertensive and most of them presented additional risk factors. Forty-one patients (27.3%) presented a stroke of other determined etiology and 44 (29.3%) presented a stroke of undetermined etiology. The 3-year survival was 96.8% and recurrent strokes occurred in only 3 cases. Traditional vascular risk factors are also very common in young adults with ischemic stroke, but such factors increase the susceptibility to stroke dependent to other causes as atherosclerosis and small-artery occlusion represent less than 20% of cases. Prognosis quoadvitam is good, being characterized by low mortality and recurrence rate. Copyright © 2014 National Stroke Association. Published by Elsevier Inc. All rights reserved.

  14. 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

  15. Obsessive-compulsive disorder, which genes? Which functions? Which pathways? An integrated holistic view regarding OCD and its complex genetic etiology.

    Science.gov (United States)

    Bozorgmehr, Ali; Ghadirivasfi, Mohammad; Shahsavand Ananloo, Esmaeil

    2017-09-01

    Obsessive-compulsive disorder (OCD) is characterized by recurrent obtrusive and repetitive acts typically occurred following anxiety. In the last two decades, studies done on the gene sequences, large-scale and point mutations and gene-gene, gene-environment and gene-drug interactions have led to the discovery of hundreds of genes associated with OCD. Although each gene in turn is a part of the etiology of this disorder; however, OCD, like other mental disorders is complex and a comprehensive and integrated view is necessary to understand its genetic basis. In this study, through an extensive review of existing published studies, all genes associated with OCD were found. Then, in order to integrate the results, all the interactions between these genes were explored and the achievement was represented as an interactive genetic network. Furthermore, the reconstructed network was analyzed. It was found that GRIN2A, GRIN2B and GRIA2 are the most central nodes in the network. Functional and pathway enrichment analysis showed that glutamate-related pathways are the main deficient systems in patients with OCD. By studying genes shared between OCD and other diseases, it was cleared that OCD, epilepsy and some types of cancer have the most number of shared genes. The results of this study, in addition to reviewing the available results as a comprehensive and integrated manner, provide new hypotheses for future studies.

  16. Next generation diagnostic molecular pathology: critical appraisal of quality assurance in Europe.

    Science.gov (United States)

    Dubbink, Hendrikus J; Deans, Zandra C; Tops, Bastiaan B J; van Kemenade, Folkert J; Koljenović, S; van Krieken, Han J M; Blokx, Willeke A M; Dinjens, Winand N M; Groenen, Patricia J T A

    2014-06-01

    Tumor evaluation in pathology is more and more based on a combination of traditional histopathology and molecular analysis. Due to the rapid development of new cancer treatments that specifically target aberrant proteins present in tumor cells, treatment decisions are increasingly based on the molecular features of the tumor. Not only the number of patients eligible for targeted precision medicine, but also the number of molecular targets per patient and tumor type is rising. Diagnostic molecular pathology, the discipline that determines the molecular aberrations present in tumors for diagnostic, prognostic or predictive purposes, is faced with true challenges. The laboratories have to meet the need of comprehensive molecular testing using only limited amount of tumor tissue, mostly fixed in formalin and embedded in paraffin (FFPE), in short turnaround time. Choices must be made for analytical methods that provide accurate, reliable and cost-effective results. Validation of the test procedures and results is essential. In addition, participation and good performance in internal (IQA) and external quality assurance (EQA) schemes is mandatory. In this review, we critically evaluate the validation procedure for comprehensive molecular tests as well as the organization of quality assurance and assessment of competence of diagnostic molecular pathology laboratories within Europe. Copyright © 2014 Federation of European Biochemical Societies. Published by Elsevier B.V. All rights reserved.

  17. 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

  18. 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.

  19. 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.

  20. 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.

  1. 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...

  2. 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.

  3. 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%.

  4. 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

  5. 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.

  6. 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.

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

    Directory of Open Access Journals (Sweden)

    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.

  8. A systematic review of etiological and risk factors associated with bruxism.

    Science.gov (United States)

    Feu, Daniela; Catharino, Fernanda; Quintão, Catia Cardoso Abdo; Almeida, Marco Antonio de Oliveira

    2013-06-01

    The aim of the present work was to systematically review the literature and identify all peer-reviewed papers dealing with etiological and risk factors associated with bruxism. Data extraction was carried out according to the standard Cochrane systematic review methodology. The following databases were searched for randomized clinical trials (RCT), controlled clinical trials (CCT) or cohort studies: Cochrane Library, Medline, and Embase from 1980 to 2011. Unpublished literature was searched electronically using ClinicalTrials.gov. The primary outcome was bruxism etiology. Studies should have a standardized method to assess bruxism. Screening of eligible studies, assessment of the methodological quality and data extraction were conducted independently and in duplicate. Two reviewers inspected the references using the same search strategy and then applied the same inclusion criteria to the selected studies. They used criteria for methodological quality that was previously described in the Cochrane Handbook. Among the 1247 related articles that were critically assessed, one randomized clinical trial, one controlled clinical trial and seven longitudinal studies were included in the critical appraisal. Of these studies, five were selected, but reported different outcomes. There is convincing evidence that (sleep-related) bruxism can be induced by esophageal acidification and also that it has an important relationship with smoking in a dose-dependent manner. Disturbances in the central dopaminergic system are also implicated in the etiology of bruxism.

  9. Etiologies of Prolonged Unconjugated Hyperbilirubinemia in Neonates Admitted to Neonatal Wards

    Directory of Open Access Journals (Sweden)

    Mohammad Kazem Sabzehei

    2015-12-01

    Full Text Available Background: Jaundice is a common condition among neonates. Prolonged unconjugated hyperbilirubinemia occurs when jaundice persists beyond two weeks in term neonates and three weeks in preterm neonates. This study aimed to determine the etiologies of prolonged unconjugated hyperbilirubinemia in infants admitted to the neonatal ward of Besat Hospital in Hamadan, Iran. Methods: This study was conducted on all infants diagnosed with prolonged unconjugated hyperbilirubinemia during 2007-2012 in the neonatal ward of Besat Hospital in Hamadan, Iran. Demographic characteristics of infants, physical examination and laboratory findings were collected and analyzed to determine the etiologies of neonatal hyperbilirubinemia. Results: In total, 100 infants diagnosed with neonatal hyperbilirubinemia were enrolled in this study, including 49 male and 51 female neonates with mean age of 20±1 days and mean bilirubin level of 17.5±4.0 mg/dL. Main causes of hyperbilirubinemia were urinary tract infection, ABO incompatibility, hypothyroidism and glucose-6-phosphate dehydrogenase deficiency in 14%, 5%, 6% and 5% of neonates, respectively. Moreover, unknown etiologies, such as breastfeeding, were detected in 70% of the studied infants. Conclusion: According to the results of this study, determining the main causes of prolonged unconjugated hyperbilirubinemia in neonates is of paramount importance. In the majority of cases, neonatal hyperbilirubinemia is associated with physiological factors, such as breastfeeding.

  10. Clinical Profile, Etiology, and Treatment of Chronic Pancreatitis in North American Women: Analysis of a Large Multicenter Cohort.

    Science.gov (United States)

    Romagnuolo, Joseph; Talluri, Jyothsna; Kennard, Elizabeth; Sandhu, Bimaljit S; Sherman, Stuart; Cote, Gregory A; Al-Kaade, Samer; Gardner, Timothy B; Gelrud, Andres; Lewis, Michele D; Forsmark, Christopher E; Guda, Nalini M; Conwell, Darwin L; Banks, Peter A; Muniraj, Thiruvengadam; Wisniewski, Stephen R; Tian, Ye; Wilcox, C Mel; Anderson, Michelle A; Brand, Randall E; Slivka, Adam; Whitcomb, David C; Yadav, Dhiraj

    2016-08-01

    Historically, chronic pancreatitis (CP) was considered a disease of alcoholic males, but recent data suggest its etiology to be complex. To better understand CP in women, we compared data on women and men with CP in a large, prospectively ascertained multicenter US cohort. Patients with CP enrolled in the NAPS2 Continuation and Validation study were studied. Information on demographics, etiology, risk factors, phenotype, and treatment(s) used was obtained from detailed questionnaires completed by the patients and physicians. Of 521 cases, 45% were women. Women were significantly (P etiology (30% vs 58.5%) and more likely to have nonalcoholic etiologies (idiopathic, 32% vs 18%; obstructive, 12% vs 2.4%; genetic, 12.8% vs 7.3%). Demographics, pain experience, morphologic findings, exocrine and endocrine insufficiency, CP-related disability, and use of medical therapies were mostly similar in both sexes. Sphincterotomy (biliary, 33% vs 24%; pancreatic, 38% vs 28%; P etiologies. In contrast to many other chronic diseases, clinical phenotype of CP is determined by the disease and is independent of sex.

  11. Inflammation to cancer: The molecular biology in the pancreas (Review).

    Science.gov (United States)

    Ling, Sunbin; Feng, Tingting; Jia, Kaiqi; Tian, Yu; Li, Yan

    2014-06-01

    Inflammatory responses are known to be correlated with cancer initiation and progression, and exploration of the route from inflammation to cancer makes a great contribution in elucidating the mechanisms underlying cancer development. Pancreatic cancer (PC) is a lethal disease with a low radical-resection rate and a poor prognosis. As chronic pancreatitis is considered to be a significant etiological factor for PC development, the current review aims to describe the molecular pathways from inflammation to pancreatic carcinogenesis, in support of the strategies for the prevention, diagnosis and treatment of PC.

  12. Molecular biodiversity of Red Sea demosponges.

    Science.gov (United States)

    Erpenbeck, Dirk; Voigt, Oliver; Al-Aidaroos, Ali M; Berumen, Michael L; Büttner, Gabriele; Catania, Daniela; Guirguis, Adel Naguib; Paulay, Gustav; Schätzle, Simone; Wörheide, Gert

    2016-04-30

    Sponges are important constituents of coral reef ecosystems, including those around the Arabian Peninsula. Despite their importance, our knowledge on demosponge diversity in this area is insufficient to recognize, for example, faunal changes caused by anthropogenic disturbances. We here report the first assessment of demosponge molecular biodiversity from Arabia, with focus on the Saudi Arabian Red Sea, based on mitochondrial and nuclear ribosomal molecular markers gathered in the framework of the Sponge Barcoding Project. We use a rapid molecular screening approach on Arabian demosponge collections and analyze results in comparison against published material in terms of biodiversity. We use a variable region of 28S rDNA, applied for the first time in the assessment of demosponge molecular diversity. Our data constitutes a solid foundation for a future more comprehensive understanding of sponge biodiversity of the Red Sea and adjacent waters. Copyright © 2015 Elsevier Ltd. All rights reserved.

  13. Evaluation of risk factors for severe pneumonia in children: the Pneumonia Etiology Research for Child Health study

    NARCIS (Netherlands)

    Wonodi, Chizoba B.; Deloria-Knoll, Maria; Feikin, Daniel R.; DeLuca, Andrea N.; Driscoll, Amanda J.; Moïsi, Jennifer C.; Johnson, Hope L.; Murdoch, David R.; O'Brien, Katherine L.; Levine, Orin S.; Scott, J. Anthony G.; 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.; Baggett, Henry C.; Brooks, W. Abdullah; Chipeta, James; Ebruke, Bernard; Endtz, Hubert P.; Groome, Michelle; Hammitt, Laura L.; Howie, Stephen R. C.; Kotloff, Karen; Maloney, Susan A.; Moore, David; Otieno, Juliet; Seidenberg, Phil; Tapia, Milagritos; Thamthitiwat, Somsak; Thea, Donald M.; Zaman, Khaleque

    2012-01-01

    As a case-control study of etiology, the Pneumonia Etiology Research for Child Health (PERCH) project also provides an opportunity to assess the risk factors for severe pneumonia in hospitalized children at 7 sites. We identified relevant risk factors by literature review and iterative expert

  14. Diagnostic Accuracy of Growth Rate in Differentiating Etiologies of Short Stature in Children

    Directory of Open Access Journals (Sweden)

    Mohammad Reza Alaei

    2016-08-01

    Full Text Available Background  Short stature is a manifestation of a wide variety of conditions that some of which may be amenable to timely treatment and a suboptimal growth rate may be an early marker pointing to the cause of growth retardation. This study was conducted to evaluate the diagnostic utility of growth rate in differential diagnosis of children with short stature. Materials and Methods All children between the ages of 2 and 18 years who visited in pediatric endocrinology clinic in a five years period were recruited in a prospective cohort study. Children with standing height Results One hundred forty three patients fulfilled the inclusion criteria. Mean follow up period was 14.4±10.9 months. Etiologies of short stature were: constitutional growth delay (CGD 46.9%, familial short stature (FSS 28.7%, hypothyroidism 4.2%, growth hormone deficiency (GHD 4.2% and miscellaneous causes in 16% of patients.  Mean Z- score for children with constitutional growth delay was -2.3±0.69, in familial short stature was -2.3±0.65 and for other condition was -2.7±1.49. There was a meaningful statistical correlation between growth rate and etiology of short stature (P0.05. Conclusion There was significant difference in growth rate between children with constitutional growth delay and familial short stature in comparing to short stature due to endocrine problem and other etiologies. Assessment of growth rate has some utility in diagnosing the etiology of short stature.

  15. 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.

  16. 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

  17. The molecular genetics of inflammatory, autoimmune, and infectious diseases of the sinonasal tract: a review.

    Science.gov (United States)

    Montone, Kathleen T

    2014-06-01

    The sinonasal tract is frequently affected by a variety of nonneoplastic inflammatory disease processes that are often multifactorial in their etiology but commonly have a molecular genetic component. To review the molecular genetics of a variety of nonneoplastic inflammatory diseases of the sinonasal tract. Inflammatory lesions of the sinonasal tract can be divided into 3 main categories: (1) chronic rhinosinusitis, (2) infectious diseases, and (3) autoimmune diseases/vasculitides. The molecular diagnosis and pathways of a variety of these inflammatory lesions are currently being elucidated and will shed light on disease pathogenesis and treatment. The sinonasal tract is frequently affected by inflammatory lesions that arise through complex interactions of environmental, infectious, and genetic factors. Because these lesions are all inflammatory in nature, the molecular pathology surrounding them is most commonly due to upregulation and down-regulation of genes that affect inflammatory responses and immune regulation.

  18. 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.

  19. 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.

  20. 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.

  1. Oral Lichen Planus: Clinical Features, Etiology, Treatment and Management; A Review of Literature

    Directory of Open Access Journals (Sweden)

    Marzieh Boorghani

    2010-03-01

    Full Text Available Lichen planus is a chronic inflammatory mucocutaneous disease. Mucosal lesions are classified into six clinical forms and there is malignant potential for two forms of OLP; therefore, follow-up should be considered. There are many unestablished etiological factors for OLP and some different treatment modalities are based on etiology. The aims of current OLP therapy are to eliminate mucosal erythema and ulceration, alleviate symptoms and reduce the risk of oral cancer. We have used review papers, case reports, cohort studies, and case-and-control studies published from 1985 to 2010 to prepare this review of literature.

  2. 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

  3. The protons of space and brain tumors: II. Cellular and molecular considerations

    International Nuclear Information System (INIS)

    Nagle, W.A.; Moss, A.J. Jr.; Dalrymple, G.V.; Cox, A.B.; Wigle, J.F.; Mitchell, J.C.

    1989-01-01

    An increased incidence of highly malignant gliomas, termed glioblastoma multiforme has been observed in Rhesus monkeys irradiated with 55 MeV protons, and in humans treated with therapeutic irradiation to the head. The results suggest a radiation etiology for these tumors. In this paper, we review briefly some characteristics of glioma tumors, and summarize the genetic changes associated with malignant gliomas in experimental animals and in humans. The genetic abnormalities include cytogenetic alterations, and changes in the structure and expression of specific oncogenes. We discuss the potential for these genetic changes to contribute to several putative mechanism leading to aberrant growth stimulation and, ultimately, to tumorigenesis. In addition, we review briefly some recent data concerning the molecular nature of radiation-induced somatic cell mutation and oncogene activation, and discuss the significance of these results for the radiation etiology of malignant gliomas. Finally, some implications of these results are discussed in relation to human radiation exposure in space

  4. Permanent maxillary canines - review of eruption pattern and local etiological factors leading to impaction.

    Science.gov (United States)

    Sajnani, Anand K

    2015-02-01

    The position of the permanent maxillary canine at the angle of the mouth is strategically significant in maintaining the harmony and symmetry of the occlusal relationship. However, the maxillary canine is the second most frequently impacted tooth, with prevalence reported to be between 1% and 2%. Moreover, treatment of this condition is often complex and involves substantial time and financial cost. Hence, it is only prudent to monitor the eruption and identify the etiological factors that lead to impaction of the maxillary canine. Numerous researchers have tried to identify specific and nonspecific etiological factors responsible for displacement of canines. The purpose of this review was to track the development processes of maxillary canines and determine the hindrances that affect the eruption at different ages. Awareness of the eruption process and etiology of noneruption will help to reduce the incidence of impacted canines by allowing for early recognition and interceptive treatment. © 2013 Wiley Publishing Asia Pty Ltd.

  5. [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.

  6. 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.

  7. Epigenetics and Bruxism: Possible Role of Epigenetics in the Etiology of Bruxism.

    Science.gov (United States)

    Čalić, Aleksandra; Peterlin, Borut

    2015-01-01

    Bruxism is defined as a repetitive jaw muscle activity characterized by clenching or grinding of the teeth and/or bracing or thrusting of the mandible. There are two distinct circadian phenotypes for bruxism: sleep bruxism (SB) and awake bruxism, which are considered separate entities due to the putative difference in their etiology and phenotypic variance. The detailed etiology of bruxism so far remains unknown. Recent theories suggest the central regulation of certain pathophysiological or psychological pathways. Current proposed causes of bruxism appear to be a combination of genetic and environmental (G×E) factors, with epigenetics providing a robust framework for investigating G×E interactions, and their involvement in bruxism makes it a suitable candidate for epigenetic research. Both types of bruxism are associated with certain epigenetically determined disorders, such as Rett syndrome (RTT), Prader-Willi syndrome (PWS), and Angelman syndrome (AS), and these associations suggest a mechanistic link between epigenetic deregulation and bruxism. The present article reviews the possible role of epigenetic mechanisms in the etiology of both types of bruxism based on the epigenetic pathways involved in the pathophysiology of RTT, PWS, and AS, and on other epigenetic disruptions associated with risk factors for bruxism, including sleep disorders, altered stress response, and psychopathology.

  8. Clinico-biochemical factors to early predict biliary etiology of acute pancreatitis: age, female gender, and ALT.

    Science.gov (United States)

    Zarnescu, N O; Costea, R; Zarnescu Vasiliu, E C; Neagu, S

    2015-01-01

    Background/ Aims: Despite the existence of an easy tool to diagnose biliary tract disease as an etiology for acute pancreatitis (AP), the sensitivity of abdominal ultrasound is around 80%, which can be even lower in certain conditions. We have retrospectively reviewed data of 146 patients admitted for acute pancreatitis between 1999 and 2013. Bivariate analysis for clinical and biochemical variables was performed with respect to etiology of AP (biliary versus non-biliary). Multivariate analysis was performed by using binary logistic regression. There were 87 males (59.6%) and 59 females (40.4%), with a median age of 51. The etiology of acute pancreatitis was biliary in 71 patients (48.6%). Bivariate analysis found the following as significant association (p=0.001) with biliary pancreatitis: older age, female gender, and elevated AST, ALT. A binary logistic regression analysis identified as predictor factors for biliary etiology of acute pancreatitis: age OR = 1.031 (95% CI 1.004 - 1.059, p = 0.024), sex (female) OR = 2.34 (95% CI 1.022 - 5.359, p = 0.044) and ALT OR = 1.004 (95% CI 1.001 - 1.007, p =0.004). The two clinical scores included the three variables (A.S.ALT scores) in categorical format were generated and then checked with the ROC curves (areas under curve are 0.768 and 0.778). Age, female gender, and elevated ALT can help identifying cases with biliary etiology of acute pancreatitis.

  9. Nasopharyngeal Carcinoma Signaling Pathway: An Update on Molecular Biomarkers

    Directory of Open Access Journals (Sweden)

    Warut Tulalamba

    2012-01-01

    Full Text Available Nasopharyngeal carcinoma (NPC is an uncommon cancer, which has a distinctive ethnic and geographic distribution. Etiology of NPC is considered to be related with a complex interaction of environmental and genetic factors as well as Epstein-Barr virus infection. Since NPC is located in the silent painless area, the disease is usually therefore diagnosed at the advanced stages; hence early detection of NPC is difficult. Furthermore, understanding in molecular pathogenesis is still lacking, pondering the identification of effective prognostic and diagnostic biomarkers. Dysregulation of signaling molecules in intracellular signal transduction, which regulate cell proliferation, apoptosis, and adhesion, underlines the basis of NPC pathogenesis. In this paper, the molecular signaling pathways in the NPC are discussed for the holistic view of NPC development and progression. The important insights toward NPC pathogenesis may offer strategies for identification of novel biomarkers for diagnosis and prognosis.

  10. 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.

  11. 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.

  12. Organochlorine pesticide level in patients with chronic kidney disease of unknown etiology and its association with renal function.

    Science.gov (United States)

    Ghosh, Rishila; Siddarth, Manushi; Singh, Neeru; Tyagi, Vipin; Kare, Pawan Kumar; Banerjee, Basu Dev; Kalra, Om Prakash; Tripathi, Ashok Kumar

    2017-05-26

    Involvement of agrochemicals have been suggested in the development of chronic kidney disease of unknown etiology (CKDu). The association between CKDu and blood level of organochlorine pesticides (OCPs) in CKDu patients has been examined in the present study. All the recruited study subjects (n = 300) were divided in three groups, namely, healthy control (n = 100), patients with chronic kidney disease of unknown etiology (n = 100), and patients with chronic kidney disease of known etiology (CKDk) (n = 100). Blood OCP levels of all three study groups were analyzed by gas chromatography. Increased level of OCPs, namely α-HCH, aldrin, and β-endosulfan, were observed in CKDu patients as compared to healthy control and CKD patients of known etiology. The levels of these pesticides significantly correlated negatively with the estimated glomerular filtration rate (eGFR) and positively with urinary albumin of CKD patients. Logistic regression analysis revealed association of γ-HCH, p, p'-DDE, and β-endosulfan with CKDu on adjustment of age, sex, BMI, and total lipid content. Increased blood level of certain organochlorine pesticides is associated with the development of chronic kidney disease of unknown etiology.

  13. Cirugía reparadora en la valvulopatía mitral de diversa etiología: durabilidad y supervivencia

    Directory of Open Access Journals (Sweden)

    Rafael García-Fuster

    2009-01-01

    Conclusiones: La etiología más frecuente fue la degenerativa (54%. Los resultados globales en su-pervivencia y durabilidad fueron satisfactorios. La mayor mortalidad fue temprana, especialmente en etiología isquémica, funcional y endocarditis.

  14. Molecular imaging. Fundamentals and applications

    International Nuclear Information System (INIS)

    Tian, Jie

    2013-01-01

    Covers a wide range of new theory, new techniques and new applications. Contributed by many experts in China. The editor has obtained the National Science and Technology Progress Award twice. ''Molecular Imaging: Fundamentals and Applications'' is a comprehensive monograph which describes not only the theory of the underlying algorithms and key technologies but also introduces a prototype system and its applications, bringing together theory, technology and applications. By explaining the basic concepts and principles of molecular imaging, imaging techniques, as well as research and applications in detail, the book provides both detailed theoretical background information and technical methods for researchers working in medical imaging and the life sciences. Clinical doctors and graduate students will also benefit from this book.

  15. Factors involved in the etiology of temporomandibular disorders - a literature review.

    Science.gov (United States)

    Chisnoiu, Andrea Maria; Picos, Alina Monica; Popa, Sever; Chisnoiu, Petre Daniel; Lascu, Liana; Picos, Andrei; Chisnoiu, Radu

    2015-01-01

    This review aims at presenting a current view on the most frequent factors involved in the mechanisms causing temporomandibular disorders (TMD). We conducted a critical review of the literature for the period January 2000 to December 2014 to identify factors related to TMD development and persistence. The etiology of TMD is multidimensional: biomechanical, neuromuscular, bio-psychosocial and biological factors may contribute to the disorder. Occlusal overloading and parafunctions (bruxism) are frequently involved as biomechanical factors; increased levels of estrogen hormones are considered biological factors affecting the temporo-mandibular-joint. Among bio-psychosocial factors, stress, anxiety or depression, were frequently encountered. The etiopathogenesis of this condition is poorly understood, therefore TMDs are difficult to diagnose and manage. Early and correct identification of the possible etiologic factors will enable the appropriate treatment scheme application in order to reduce or eliminate TMDs debilitating signs and symptoms.

  16. A Comprehensive Strategy for Accurate Mutation Detection of the Highly Homologous PMS2.

    Science.gov (United States)

    Li, Jianli; Dai, Hongzheng; Feng, Yanming; Tang, Jia; Chen, Stella; Tian, Xia; Gorman, Elizabeth; Schmitt, Eric S; Hansen, Terah A A; Wang, Jing; Plon, Sharon E; Zhang, Victor Wei; Wong, Lee-Jun C

    2015-09-01

    Germline mutations in the DNA mismatch repair gene PMS2 underlie the cancer susceptibility syndrome, Lynch syndrome. However, accurate molecular testing of PMS2 is complicated by a large number of highly homologous sequences. To establish a comprehensive approach for mutation detection of PMS2, we have designed a strategy combining targeted capture next-generation sequencing (NGS), multiplex ligation-dependent probe amplification, and long-range PCR followed by NGS to simultaneously detect point mutations and copy number changes of PMS2. Exonic deletions (E2 to E9, E5 to E9, E8, E10, E14, and E1 to E15), duplications (E11 to E12), and a nonsense mutation, p.S22*, were identified. Traditional multiplex ligation-dependent probe amplification and Sanger sequencing approaches cannot differentiate the origin of the exonic deletions in the 3' region when PMS2 and PMS2CL share identical sequences as a result of gene conversion. Our approach allows unambiguous identification of mutations in the active gene with a straightforward long-range-PCR/NGS method. Breakpoint analysis of multiple samples revealed that recurrent exon 14 deletions are mediated by homologous Alu sequences. Our comprehensive approach provides a reliable tool for accurate molecular analysis of genes containing multiple copies of highly homologous sequences and should improve PMS2 molecular analysis for patients with Lynch syndrome. Copyright © 2015 American Society for Investigative Pathology and the Association for Molecular Pathology. Published by Elsevier Inc. All rights reserved.

  17. A review of the pathophysiology, etiology, and treatment of attention-deficit hyperactivity disorder (ADHD).

    Science.gov (United States)

    Sharma, Alok; Couture, Justin

    2014-02-01

    To review the pathophysiology, etiology, and treatment of attention-deficit hyperactivity disorder (ADHD). A literature search was conducted in PubMed and EMBASE using the terms attention deficit hyperactive disorder, ADHD, pathophysiology, etiology, and neurobiology. Limits applied were the following: published in the past 10 years (January 2003 to August 2013), humans, review, meta-analysis, and English language. These yielded 63 articles in PubMed and 74 in EMBASE. After removing duplicate/irrelevant articles, 86 articles and their relevant reference citations were reviewed. ADHD is a neurological disorder that affects children, but symptoms may persist into adulthood. Individuals suffering from this disorder exhibit hyperactivity, inattention, impulsivity, and problems in social interaction and academic performance. Medications used to treat ADHD such as methylphenidate, amphetamine, and atomoxetine indicate a dopamine/norepinephrine deficit as the neurochemical basis of ADHD, but the etiology is more complex. Moreover, these agents have poor adverse effect profiles and a multitude of drug interactions. Because these drugs are also dispensed to adults who may have concomitant conditions or medications, a pharmacist needs to be aware of these adverse events and drug interactions. This review, therefore, focuses on the pathophysiology, etiology, and treatment of ADHD and details the adverse effects and drug interaction profiles of the drugs used to treat it. Published research shows the benefit of drug therapy for ADHD in children, but given the poor adverse effect and drug interaction profiles, these must be dispensed with caution.

  18. The etiology and outcome of non-traumatic coma in critical care: a systematic review.

    Science.gov (United States)

    Horsting, Marlene Wb B; Franken, Mira D; Meulenbelt, Jan; van Klei, Wilton A; de Lange, Dylan W

    2015-04-29

    Non-traumatic coma (NTC) is a serious condition requiring swift medical or surgical decision making upon arrival at the emergency department. Knowledge of the most frequent etiologies of NTC and associated mortality might improve the management of these patients. Here, we present the results of a systematic literature search on the etiologies and prognosis of NTC. Two reviewers independently performed a systematic literature search in the Pubmed, Embase and Cochrane databases with subsequent reference and citation checking. Inclusion criteria were retrospective or prospective observational studies on NTC, which reported on etiologies and prognostic information of patients admitted to the emergency department or intensive care unit. Eventually, 14 studies with enough data on NTC, were selected for this systematic literature review. The most common causes of NTC were stroke (6-54%), post-anoxic coma (3-42%), poisoning (coma (54-89%) and lowest for poisoning (0-39%) and epilepsy (0-10%). NTC represents a challenge to the emergency and the critical care physicians with an important mortality and moderate-severe disability rate. Even though, included studies were very heterogeneous, the most common causes of NTC are stroke, post anoxic, poisoning and various metabolic etiologies. The best outcome is achieved for patients with poisoning and epilepsy, while the worst outcome was seen in patients with stroke and post-anoxic coma. Adequate knowledge of the most common causes of NTC and prioritizing the causes by mortality ensures a swift and adequate work-up in diagnosis of NTC and may improve outcome.

  19. Congenital malformations according to etiology in newborns from the floricultural zone of Mexico state.

    Science.gov (United States)

    Castillo-Cadena, Julieta; Mejia-Sanchez, Fernando; López-Arriaga, Jerónimo Amado

    2017-03-01

    Birth defects are the number one cause of child mortality worldwide and in 2010 it was the second cause in Mexico. Congenital malformations are a public health issue, because they cause infant mortality, chronic disease and disability. The origin can be genetic, environmental or unknown causes. Among environmental contaminants, pesticides stand out. In this study, we determine the frequency and etiology of congenital malformations in newborns (NBs) of a floricultural community and we compare it with that in the urban community. For 18 months, the NBs were monitored at the Tenancingo General Hospital and the Mother and Child Gynecology and Obstetrics Hospital (IMIEM) in Toluca. The identification of these malformations was carried out in accordance with the WHO. In Tenancingo, 1149 NBs were viewed, where 20% had some kind of congenital malformations. While in the IMIEM, 5069 were reviewed and 6% had some malformation. According to the etiology, in Tenancingo, 69% were multifactorial, 28% were monogenetic and 2% were chromosomal. In the IMIEM, 47% were multifactorial, then 18.3% were monogenetic and 2.8% were chromosomal. There was a significant difference between the global frequency of malformations and the multifactorial etiology of both institutions. Our results show that congenital malformations in the NBs occurred more frequently in the floricultural zone and that because the percentage of multifactorial etiology is higher, it is likely there is an association with exposure to pesticides.

  20. 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.

  1. 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.

  2. 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

  3. 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...

  4. 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…

  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. 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.

  7. 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)

  8. 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.

  9. Update on uncertain etiology of chronic kidney disease in Sri Lanka's north-central dry zone.

    Science.gov (United States)

    Wanigasuriya, Kamani

    2014-04-01

    This manuscript updates a review previously published in a local journal in 2012, about a new form of chronic kidney disease that has emerged over the past two decades in the north-central dry zone of Sri Lanka, where the underlying causes remain undetermined. Disease burden is higher in this area, particularly North Central Province, and affects a rural and disadvantaged population involved in rice-paddy farming. Over the last decade several studies have been carried out to estimate prevalence and identify determinants of this chronic kidney disease of uncertain etiology. Summarize the available evidence on prevalence, clinical profile and risk factors of chronic kidney disease of uncertain etiology in the north-central region of Sri Lanka. PubMed search located 16 manuscripts published in peer-reviewed journals. Three peer-reviewed abstracts of presentations at national scientific conferences were also included in the review. Disease prevalence was 5.1%-16.9% with more severe disease seen in men than in women. Patients with mild to moderate stages of disease were asymptomatic or had nonspecific symptoms; urinary sediments were bland; 24-hour urine protein excretion was urine, and mycotoxins detected in foods were below maximum statutory limits. Calcium-bicarbonate-type water with high levels of fluoride was predominant in endemic regions. Significantly high levels of cadmium in urine of cases compared to controls, as well as the disease's dose-related response to these levels, has drawn attention to this element as a possible contributing factor. Familial clustering of patients is suggestive of a polygenic inheritance pattern comparable to that associated with diseases of multifactorial etiology. Available data suggest that chronic kidney disease of uncertain etiology is an environmentally acquired disease, but to date no definitive causal factor has been identified. Geographic distribution and research findings suggest a multifactorial etiology.

  10. 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.

  11. 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...

  12. 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...

  13. 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.

  14. 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.

  15. Integrating Etiological Models of Social Anxiety and Depression in Youth: Evidence for a Cumulative Interpersonal Risk Model

    Science.gov (United States)

    Epkins, Catherine C.; Heckler, David R.

    2011-01-01

    Models of social anxiety and depression in youth have been developed separately, and they contain similar etiological influences. Given the high comorbidity of social anxiety and depression, we examine whether the posited etiological constructs are a correlate of, or a risk factor for, social anxiety and/or depression at the symptom level and the…

  16. Just Working with the Cellular Machine: A High School Game for Teaching Molecular Biology

    Science.gov (United States)

    Cardoso, Fernanda Serpa; Dumpel, Renata; Gomes da Silva, Luisa B.; Rodrigues, Carlos R.; Santos, Dilvani O.; Cabral, Lucio Mendes; Castro, Helena C.

    2008-01-01

    Molecular biology is a difficult comprehension subject due to its high complexity, thus requiring new teaching approaches. Herein, we developed an interdisciplinary board game involving the human immune system response against a bacterial infection for teaching molecular biology at high school. Initially, we created a database with several…

  17. Complex etiology and pathology of mycotoxic nephropathy in South African pigs

    CSIR Research Space (South Africa)

    Stoev, SD

    2009-01-01

    Full Text Available Spontaneous nephropathy in pigs seen in South Africa was found to have multi-mycotoxic etiology involving several mycotoxins such as ochratoxin A (OTA), penicillic acid (PA) and fumonisin B1 (FB1) in addition to a not yet identified mycotoxin...

  18. Etiology and pattern of maxillofacial injuries in the armed forces of pakistan

    International Nuclear Information System (INIS)

    Khan, S.U.; Khan, M.; Khan, A.A.; Maqsood, A.; Ibrahim, W.; Wasim, A.

    2007-01-01

    To determine the etiology and pattern of maxillofacial injuries in the Armed Forces of Pakistan in terms of anatomical distribution of injuries. Three hundred consecutive patients of Armed Forces of Pakistan with maxillofacial injuries reporting to AFID and admitted to the hospital or treated as out-patients in the oral surgery clinic, were included in this study. Isolated nasal bone and frontal sinus fractures were excluded from the study. Anatomical distribution, frequency and etiology of fractures, rank at job and occupational as well as personal hobbies were recorded. Descriptive analyses were used to determine mean, standard deviation, percentage and range values. The most frequent bone fractured was the mandible, which accounted for 159 cases (53%). The zygomatic complex was fractured in 51 cases (17%), the maxilla in 12 cases (4 %), and the alveolar process in 21 cases (7%). The most common cause was road traffic accident (168 cases; 56%), followed by accidental fall (69 cases; 23%), gunshot injuries (27 cases; 9%), sports related injuries (15 cases; 5%), and injury associated with a fight (12 cases; 4%); there were only 9 cases of animals related injuries (3%). In this series, mandible was the most commonly fractured facial bone, while road traffic accident was the most common etiological factor. Results could be influenced by the personal and working environment. (author)

  19. Validation of Demographics, Etiology, and Risk Factors for Chronic Pancreatitis in the USA: A Report of the North American Pancreas Study (NAPS) Group.

    Science.gov (United States)

    Conwell, Darwin L; Banks, Peter A; Sandhu, Bimaljit S; Sherman, Stuart; Al-Kaade, Samer; Gardner, Timothy B; Anderson, Michelle A; Wilcox, C Mel; Lewis, Michele D; Muniraj, Thiruvengadam; Forsmark, Christopher E; Cote, Gregory A; Guda, Nalini M; Tian, Ye; Romagnuolo, Joseph; Wisniewski, Stephen R; Brand, Randall; Gelrud, Andres; Slivka, Adam; Whitcomb, David C; Yadav, Dhiraj

    2017-08-01

    Our aim was to validate recent epidemiologic trends and describe the distribution of TIGAR-O risk factors in chronic pancreatitis (CP) patients. The NAPS-2 Continuation and Validation (NAPS2-CV) study prospectively enrolled 521 CP patients from 13 US centers from 2008 to 2012. CP was defined by definitive changes in imaging, endoscopy, or histology. Data were analyzed after stratification by demographic factors, physician-defined etiology, participating center, and TIGAR-O risk factors. Demographics and physician-defined etiology in the NAPS2-CV study were similar to the original NAPS2 study. Mean age was 53 years (IQR 43, 62) with 55% males and 87% white. Overall, alcohol was the single most common etiology (46%) followed by idiopathic etiology (24%). Alcohol etiology was significantly more common in males, middle-aged (35-65 years), and non-whites. Females and elderly (≥65 years) were more likely to have idiopathic etiology, while younger patients (etiology. Variability in etiology was noted by participating centers (e.g., alcohol etiology ranged from 27 to 67% among centers enrolling ≥25 patients). Smoking was the most commonly identified (59%) risk factor followed by alcohol (53%), idiopathic (30%), obstructive (19%), and hyperlipidemia (13%). The presence of multiple TIGAR-O risk factors was common, with 1, 2, ≥3 risk factors observed in 27.6, 47.6, and 23.6% of the cohort, respectively. Our data validate the current epidemiologic trends in CP. Alcohol remains the most common physician-defined etiology, while smoking was the most commonly identified TIGAR-O risk factor. Identification of multiple risk factors suggests CP to be a complex disease.

  20. 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

  1. 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...

  2. [Etiology of urinary tract infections and antimicrobial susceptibility of urinary pathogens].

    Science.gov (United States)

    Correia, Carlos; Costa, Elísio; Peres, António; Alves, Madalena; Pombo, Graça; Estevinho, Letícia

    2007-01-01

    With the objective of knowing the common etiological agents in urinary infection and comparing its antimicrobial susceptibility in nosocomial and community-acquired urinary infections, we analyse all the urine bacteriological exams from the Serviço de Patologia Clínica do Centro Hospitalar do Nordeste, EPE - Unidade Hospitalar de Bragança, during a two years period (April 2004 to March 2006). During this period, 4018 urine bacteriological exams were made. The cultural exam was positive in 572 samples (144 from nosocomial infections and 428 from community-acquired urinary infections). The Escherichia coli was the more isolated strain (68,4 %), followed by Klebsiella spp (7,9%), Pseudomonas aeruginosa (6,1%) and Proteus mirabilis (5,2%). Concerning to antimicrobial susceptibility, Escherichia coli and Klebsiella spp showed a high resistance to the antimicrobials Amoxicillin, Piperacillin, Cephalothin, Ceftazidim and Quinolones. For Enterobacteriaceae Imipenem, Amikacin and Netilmicin were the antimicrobials with more level of susceptibility. Imipenem and Amikacin were the more efficient antimicrobials against Pseudomonas aeruginosa. Concerning to the susceptibility for the same etiological agent, in nosocomial and community-acquired urinary infections, we founded statistical significant differences in the antimicrobials Ticarcillin-clavulanic acid and Collistin for Pseudomonas aeruginosa and in the group of antimicrobials from Quinolones for the Proteus mirabilis. In the other identified agents there were no statistical significant differences for antimicrobials. This study it allows making use of data necessary for the knowledge of etiologic urinary infection agents in Bragança and provides the information about the antimicrobials resistance, which were necessary to initiate an adequate empirical treatment and to elaborate treatment guides.

  3. [Sacroiliac joint disorders in Abidjan: epidemiological, clinical, radiological and etiological characteristics].

    Science.gov (United States)

    Diomandé, Mohamed; Eti, E; Ouattara, B; Cheteu, K E; Kouakou Ehaulier Soh, C L; Gbané-Koné, M; Djaha Kouassi, Jean-Mermoze; Kouakou N'zué, M

    2014-10-01

    The sacroiliac joint remains unknown in sub-Saharan Africa. Studies about the sacroiliac diseases are rare Aim : Describe the epidemiological, clinical, radiological and etiological characteristics of sacroiliac joint diseases in Abidjan Methods : Retrospective and descriptive study concerning 17 patients hospitalized from February 2003 to April 2010 in the department of rheumatology of university hospital center of Cocody (Abidjan) for buttock pain or others functional signs evoking sacroiliac joint which were attested by radiographic lesions. We were interested on the epidemiological, clinical and radiological characteristics and the etiologies in the sacroiliac disease. The hospital prevalence of sacroiliac diseases was 0.55% corresponding in 17 of 3067 rheumatological diseases. The female sex predominated (82.35%) and the mean age of 25.58 years. Gyneco-obstetric events were the predominant risk factors (47.05%). Sacroiliac damage was manifested by inflammatory pain (64.7%) localized at the buttock or lumbar spine, radiating to the thigh (52.9%) and was accompanied by functional disability (82.2%) and fever was not present every time (64.7%). The physical findings were the tripod sign positive (58.8%), the monopodal backing positive (41.2%) and palpation painful of sacroiliac joint. The standard radiograph revealed a blurring aspect and widening of joint space associated with demineralization (68.4%), a joint space narrowing and erosion of articular banks (23.5%). The etiologies found were bacterial arthritis (82.3%) mainly pyogenic (70.58%), osteoarthritis (11.7%) and ankylosing spondylitis (5.9%). Sacroiliac joint diseases are rare in rheumatology practice in Abidjan, concern younger subjects and are dominated by pyogenic sacroiliitis.

  4. Revisiting the etiological aspects of dissociative identity disorder: a biopsychosocial perspective.

    Science.gov (United States)

    Şar, Vedat; Dorahy, Martin J; Krüger, Christa

    2017-01-01

    Dissociative identity disorder (DID) is a chronic post-traumatic disorder where developmentally stressful events in childhood, including abuse, emotional neglect, disturbed attachment, and boundary violations are central and typical etiological factors. Familial, societal, and cultural factors may give rise to the trauma and/or they may influence the expression of DID. Memory and the construction of self-identity are cognitive processes that appear markedly and centrally disrupted in DID and are related to its etiology. Enduring decoupling of psychological modes may create separate senses of self, and metamemory processes may be involved in interidentity amnesia. Neurobiological differences have been demonstrated between dissociative identities within patients with DID and between patients with DID and controls. Given the current evidence, DID as a diagnostic entity cannot be explained as a phenomenon created by iatrogenic influences, suggestibility, malingering, or social role-taking. On the contrary, DID is an empirically robust chronic psychiatric disorder based on neurobiological, cognitive, and interpersonal non-integration as a response to unbearable stress. While current evidence is sufficient to firmly establish this etiological stance, given the wide opportunities for innovative research, the disorder is still understudied. Comparison of well-selected samples of DID patients with non-dissociative subjects who have other psychiatric disorders would further delineate the neurobiological and cognitive features of the disorder, whereas genetic research on DID would further illuminate the interaction of the individual with environmental stress. As such, DID may be seen as an exemplary disease model of the biopsychosocial paradigm in psychiatry.

  5. MOLECULAR BIOLOGICAL AND RADIOLOGICAL TECHNOLOGIES IN THE COMPLEX DIAGNOSIS OF AUXILLARY PATHOLOGY

    Directory of Open Access Journals (Sweden)

    N. I. Rozhkova

    2009-01-01

    Full Text Available Introduction. A diversity of axillary pathologies was a prerequisite for the development of a new differential approach to diagnosing such conditions. There are new technologies (pre- and intraoperative radionuclide studies, molecular genetic techniques, that have shown themselves, along with classical methods (physical examination, mammography, X-ray and ultrasound studies.Materials and methods. The subject of the analysis is the results of a comprehensive examination of 502 women aged 22 to 84 years. Different groups were comprehensively examined using both X-ray, ultrasound, radionuclide, and molecular genetic (polymerase chain reaction studies.Results. The molecular genetic and cytological studies could provide the actual results in 95 and 84% of cases, respectively; but a com- prehensive clinical study and X-ray ultrasound computed tomography could yield them in marginal metastases in only 65.3%. Conclusion. The authors have proposed the optimal diagnostic algorithm for examination in the ambulatory-outpatient network and specialized institutions.

  6. 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 ...

  7. [Etiological factors of carpal tunnel syndrome in subjects occupationally exposed to monotype wrist movements].

    Science.gov (United States)

    Lewańska, Magdalena; Walusiak-Skorupa, Jolanta

    2014-01-01

    Carpal tunnel syndrome (CTS) is the most common neuropathy of upper limbs and a leading cause of upper extremity musculoskeletal disorders, in terms of work exposure, repetitive and forceful exertions of the hand and use of vibrating hand tools. The aim of the study was to evaluate etiological factors of carpal tunnel syndrome in subjects occupationally exposed to monotype movements in wrist. We conducted the retrospective analysis of 300 patients (261 women, 39 men), mean age 52 years (standard deviation: +/-6.93) hospitalized with the suspicion of occupational CTS. The study revealed high percentage (68.7%) of diseases and systemic factors involved in the pathogenesis of CTS in the analyzed population, especially obesity (32%), thyroid diseases (28.7%), hormone replacement therapy and/or oophorectomy (16.3%) and diabetes mellitus (12%). In 111 patients the coexistence of at least a couple of potential etiological factors of the neuropathy was recognized. Clinical analysis and occupational exposure allowed to diagnose occupational carpal tunnel syndrome in 18 (6%) patients only. The undeniable long-term (20(.2+/-9.3 years) occupational exposure to repetitive, forceful movements in the wrist was observed in this group. The results of our study indicated that non-occupational etiological factors of CTS predominated and in 37% of patients at least several factors were found. The analysis showed the high prevalence of CTS in workers employed in various sectors of industry, including so called "blue collar" workers. Our study confirmed the multifactorial etiology of carpal tunnel syndrome, however, occupational agents contributed to only 6% of cases.

  8. Significance of molecular diagnostics in human papilloma virus (HPV determination

    Directory of Open Access Journals (Sweden)

    Kovačević G.

    2014-01-01

    Full Text Available HPV infection is considered to be the most important etiologic factor in cervical cancer development. In this retrospective study, which included the period from 2000 to 2012, the results of two molecular techniques used in the detection of HPV infection among women of the South Bačka District were analyzed. By using the technique of in situ hybridization and the rPCR method, the proportion of high-risk HPV among women with normal cytology was determined to be 19.8% and 32.7%, respectively, and among women with abnormal cytology 43.1% and 61%, respectively. Among the analyzed women, HPV type 16 was the most prevalent, followed by HPV types 31, 51 and 18. Application of molecular HPV diagnosis is valuable because it increases the sensitivity of the screening test, so that the application of both tests to detect cervical cancer is a true prevention of malignancy.

  9. RISK FACTORS AND ETIOLOGY OF TRANSIENT ISCHEMIC ATTACKS IN PATIENTS WITH BRAIN INFARCTION

    Directory of Open Access Journals (Sweden)

    Kavian Ghandehari

    2010-12-01

    Full Text Available   Abstract INTRODUCTION: Transient ischemic attacks (TIA are warnings of future stroke. There is no difference in risk factors, pathophysiology and prevention between TIA and brain infarction. methods: Consecutive patients with brain infarction admitted to Ghaem Hospital, Mashhad, Northeastern Iran, were enrolled in a prospective study during 2006. Diagnosis of ischemic stroke was established by a neurologist who also obtained history of TIA and vascular risk factors. All of the stroke patients underwent a standard battery of diagnostic investigations and etiology of ischemic stroke was determined by the Practical Iranian Criteria classification. Fisher’s exact test was used for statistical analysis. results: 348 stroke patients (186 women, 162 men were studied. History of TIA was present in 42 patients (29 women, 13 men, i.e. 12% of the stroke patients. TIA was more common in women (df=1, P=0.02. The frequency of hypertension, diabetes and ipsilateral carotid stenosis was not significantly different between patients with history of TIA and other stroke patients (P=0.87, P=0.64 and P=0.61, respectively. Hyper-cholesterolemia and smoking were significantly more frequent in stroke patients with history of TIA (P=0.011 and P=0.014, respectively. The frequency of TIA was not significantly different among patients with lacunar, versus large vessel territory infarcts (df=1, P=0.84. There was no significant difference in the frequency of various stroke etiologies in patients with and without history of TIA (df=4, P=0.61. CONCLUSIONS: Stroke patients with history of TIA have vascular risk factors similar to other stroke patients. A positive history of TIA does not affirm any specific etiology of ischemic stroke.     Keywords: Risk factors, etiology, transient ischemic attacks.

  10. Relationship between weathered coal deposits and the etiology of Balkan endemic nephropathy

    International Nuclear Information System (INIS)

    Feder, G.L.; Radovanovic, Z.; Finkelman, R.B.

    1991-01-01

    Field studies in epidemiology and environmental geochemistry in areas in Yugoslavia containing villages with a high incidence of Balkan endemic nephropathy (BEN), indicate a possible relationship between the presence of low-rank coal deposits and the etiology of BEN. Preliminary results from qualitative chemical analyses of drinking water from shallow farm wells indicate the presence of soluble polar aromatic and polynuclear aromatic hydrocarbons. These compounds may be derived from weathering of low-rank coals occurring in the vicinity of the endemic villages. All of the endemic villages are in alluvial valleys of tributaries to the Danube River. All except one of the clusters of endemic villages are located in the vicinity of known Pliocene age coals. Detailed sampling of the drinking waters and the nearby coals are being undertaken to identify a possible etiologic factor

  11. Integration of ¹H NMR and UPLC-Q-TOF/MS for a comprehensive urinary metabonomics study on a rat model of depression induced by chronic unpredictable mild stress.

    Directory of Open Access Journals (Sweden)

    Hong-Mei Jia

    Full Text Available Depression is a type of complex psychiatric disorder with long-term, recurrent bouts, and its etiology remains largely unknown. Here, an integrated approach utilizing (1H NMR and UPLC-Q-TOF/MS together was firstly used for a comprehensive urinary metabonomics study on chronic unpredictable mild stress (CUMS treated rats. More than twenty-nine metabolic pathways were disturbed after CUMS treatment and thirty-six potential biomarkers were identified by using two complementary analytical technologies. Among the identified biomarkers, nineteen (10, 11, 16, 17, 21-25, and 27-36 were firstly reported as potential biomarkers of CUMS-induced depression. Obviously, this paper presented a comprehensive map of the metabolic pathways perturbed by CUMS and expanded on the multitude of potential biomarkers that have been previously reported in the CUMS model. Four metabolic pathways, including valine, leucine and isoleucine biosynthesis; phenylalanine, tyrosine and tryptophan biosynthesis; tryptophan metabolism; synthesis and degradation of ketone bodies had the deepest influence in the pathophysiologic process of depression. Fifteen potential biomarkers (1-2, 4-6, 15, 18, 20-23, 27, 32, 35-36 involved in the above four metabolic pathways might become the screening criteria in clinical diagnosis and predict the development of depression. Moreover, the results of Western blot analysis of aromatic L-amino acid decarboxylase (DDC and indoleamine 2, 3-dioxygenase (IDO in the hippocampus of CUMS-treated rats indicated that depletion of 5-HT and tryptophan, production of 5-MT and altered expression of DDC and IDO together played a key role in the initiation and progression of depression. In addition, none of the potential biomarkers were detected by NMR and LC-MS simultaneously which indicated the complementary of the two kinds of detection technologies. Therefore, the integration of (1H NMR and UPLC-Q-TOF/MS in metabonomics study provided an approach to identify

  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. The malaria parasite RhopH protein complex interacts with erythrocyte calmyrin identified from a comprehensive erythrocyte protein library.

    Science.gov (United States)

    Miura, Toyokazu; Takeo, Satoru; Ntege, Edward H; Otsuki, Hitoshi; Sawasaki, Tatsuya; Ishino, Tomoko; Takashima, Eizo; Tsuboi, Takafumi

    2018-06-02

    Malaria merozoite apical organelles; microneme and rhoptry secreted proteins play functional roles during and following invasion of host erythrocytes. Among numerous proteins, the rhoptries discharge high molecular weight proteins known as RhopH complex. Recent reports suggest that the RhopH complex is essential for growth and survival of the malaria parasite within erythrocytes. However, an in-depth understanding of the host-parasite molecular interactions is indispensable. Here we utilized a comprehensive mouse erythrocyte protein library consisting of 443 proteins produced by a wheat germ cell-free system, combined with AlphaScreen technology to identify mouse erythrocyte calmyrin as an interacting molecule of the rodent malaria parasite Plasmodium yoelii RhopH complex (PyRhopH). The PyRhopH interaction was dependent on the calmyrin N-terminus and divalent cation capacity. The finding unveils a recommendable and invaluable usefulness of our comprehensive mouse erythrocyte protein library together with the AlphaScreen technology in investigating a wide-range of host-parasite molecular interactions. Copyright © 2018 Elsevier Inc. All rights reserved.

  14. 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.

  15. Etiology of severe pneumonia in Ecuadorian children.

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    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.

  16. Transarterial embolization in the management of intractable epistaxis: the angiographic findings and results based on etiologies.

    Science.gov (United States)

    Wang, Bin; Zu, Qing-Quan; Liu, Xing-Long; Zhou, Chun-Gao; Xia, Jin-Guo; Zhao, Lin-Bo; Shi, Hai-Bin; Liu, Sheng

    2016-08-01

    Transarterial embolization (TAE) appears to be a safe and effective treatment for patients with intractable epistaxis, despite different etiologies or angiography findings. Idiopathic epistaxis is prone to present with negative angiographic findings. To retrospectively evaluate the safety and effectiveness of TAE for intractable epistaxis, and focus on the factors of etiology and angiographic findings. From March 2008 to December 2014, the data of 43 patients with intractable bleeding undergoing TAE were reviewed. The outcomes of interventional therapy were assessed according to different etiology (malignant or benign disease) and angiographic finding (positive or negative angiogram). Positive angiographic findings were found in 11 of 12 cases with malignant diseases and 22 of 31 cases with benign diseases, respectively (p = 0.237). Among the 10 cases with negative angiographic findings, the negative angiography rate of idiopathic epistaxis was higher than that of epistaxis with definite etiology (p = 0.003). Bleeding was controlled successfully in all of the 43 patients after embolization. During the mean follow-up period of 24.0 ± 16.7 months, five patients relapsed. No significant difference was found in recurrence rates between malignant and benign diseases or between positive and negative angiography (p = 0.241, p = 0.704, respectively).

  17. Ins and outs of systems biology vis-à-vis molecular biology: continuation or clear cut?

    Science.gov (United States)

    De Backer, Philippe; De Waele, Danny; Van Speybroeck, Linda

    2010-03-01

    The comprehension of living organisms in all their complexity poses a major challenge to the biological sciences. Recently, systems biology has been proposed as a new candidate in the development of such a comprehension. The main objective of this paper is to address what systems biology is and how it is practised. To this end, the basic tools of a systems biological approach are explored and illustrated. In addition, it is questioned whether systems biology 'revolutionizes' molecular biology and 'transcends' its assumed reductionism. The strength of this claim appears to depend on how molecular and systems biology are characterised and on how reductionism is interpreted. Doing credit to molecular biology and to methodological reductionism, it is argued that the distinction between molecular and systems biology is gradual rather than sharp. As such, the classical challenge in biology to manage, interpret and integrate biological data into functional wholes is further intensified by systems biology's use of modelling and bioinformatics, and by its scale enlargement.

  18. 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

  19. Predictors of severity and outcome of global developmental delay without definitive etiologic yield: a prospective observational study

    OpenAIRE

    Thomaidis, Loretta; Zantopoulos, Georgios Zacharias; Fouzas, Sotirios; Mantagou, Lito; Bakoula, Chryssa; Konstantopoulos, Andreas

    2014-01-01

    Background Although several determinants of global developmental delay (GDD) have been recognized, a significant number of children remain without definitive etiologic diagnosis. The objective of this study was to assess the effect of various prenatal and perinatal factors on the severity and outcome of developmental delay without definitive etiologic yield. Methods From March 2008 to February 2010, 142 children with developmental quotient (DQ)

  20. 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.

  1. Investigation of Clinical Characteristics and Etiological Factors in Children with Molar Incisor Hypomineralization

    Science.gov (United States)

    Giuca, Maria Rita; Cappè, Maria; Carli, Elisabetta; Lardani, Lisa

    2018-01-01

    Aim The purpose of the present study was to evaluate the clinical defects and etiological factors potentially involved in the onset of MIH in a pediatric sample. Methods 120 children, selected from the university dental clinic, were included: 60 children (25 boys and 35 girls; average age: 9.8 ± 1.8 years) with MIH formed the test group and 60 children (27 boys and 33 girls; average age: 10.1 ± 2 years) without MIH constituted the control group. Distribution and severity of MIH defects were evaluated, and a questionnaire was used to investigate the etiological variables; chi-square, univariate, and multivariate statistical tests were performed (significance level set at p MIH defects: 55 molars and 75 incisors showed mild defects, 91 molars and 20 incisors had moderate lesions, and 40 molars and 3 incisors showed severe lesions. Univariate and multivariate statistical analysis showed a significant association (p MIH and ear, nose, and throat (ENT) disorders and the antibiotics used during pregnancy (0.019). Conclusions Moderate defects were more frequent in the molars, while mild lesions were more frequent in the incisors. Antibiotics used during pregnancy and ENT may be directly involved in the etiology of MIH in children. PMID:29861729

  2. An Adlerian Model for the Etiology of Aggression in Adjudicated Adolescents.

    Science.gov (United States)

    Smith, Sandy; Mullis, Fran; Kern, Roy M.; Brack, Greg

    1999-01-01

    Investigates perceived parental rejection, family cohesion and adaptability, and levels of trait anger and anxiety in adolescents and their relationship to the etiology of aggression in adolescents who have been adjudicated for assaultive crimes. Study supports Adler's aggression theory, which established that aggression might begin with feelings…

  3. Future Directions in Etiologic, Prevention, and Treatment Research for Eating Disorders

    Science.gov (United States)

    Stice, Eric; South, Kelsey; Shaw, Heather

    2012-01-01

    Significant advances have occurred regarding the understanding of etiologic processes that give rise to eating disorders and the design and evaluation of efficacious prevention programs and treatment interventions. Herein we offer suggestions regarding potentially fruitful directions for future research in these areas. We suggest it would be…

  4. Feline sporotrichosis: associations between clinical-epidemiological profiles and phenotypic-genotypic characteristics of the etiological agents in the Rio de Janeiro epizootic area.

    Science.gov (United States)

    Boechat, Jéssica Sepulveda; Oliveira, Manoel Marques Evangelista; Almeida-Paes, Rodrigo; Gremião, Isabella Dib Ferreira; Machado, Ana Caroline de Sá; Oliveira, Raquel de Vasconcelos Carvalhaes; Figueiredo, Anna Barreto Fernandes; Rabello, Vanessa Brito de Souza; Silva, Karoline Benevides de Lima; Zancopé-Oliveira, Rosely Maria; Schubach, Tânia Maria Pacheco; Pereira, Sandro Antonio

    2018-03-01

    Sporotrichosis is caused by species of the genus Sporothrix. From 1998 to 2015, 4,703 cats were diagnosed at the Fundação Oswaldo Cruz (Fiocruz), Rio de Janeiro, Brazil. Even after the description of the Sporothrix species, the characterisation of feline isolates is not performed routinely. To characterise the clinical isolates from cats at the species level and correlate them with the clinical and epidemiological characteristics of the cats. Forty seven Sporothrix spp. isolates from cats assisted at Fiocruz from 2010 to 2011 were included. Medical records were consulted to obtain the clinical and epidemiological data. The isolates were identified through their morphological and physiological characteristics. T3B polymerase chain reaction (PCR) fingerprinting was used for molecular identification of the species. In phenotypic tests, 34 isolates were characterised as S. brasiliensis, one as S. schenckii and 12 as Sporothrix spp. PCR identified all isolates as S. brasiliensis. S. brasiliensis is the only etiological agent of feline sporotrichosis in Rio de Janeiro to date. None association was found between the isolates and the clinical and epidemiological data. In addition, we strongly recommend the use of molecular techniques for the identification of isolates of Sporothrix spp.

  5. Erectile Dysfunction Under Age 40: Etiology and Role of Contributing Factors

    Directory of Open Access Journals (Sweden)

    Tahir Karadeniz

    2004-01-01

    Full Text Available The aim of this study was to evaluate the etiology of erectile dysfunction (ED in patients under the age of 40 years. Eighty one patients were included in this study. All patients underwent a multidisciplinary diagnostic approach by color Doppler ultrasonography, dynamic pharmacocavernosometry (optional, selective pudendal pharmaco-arteriography (optional and nocturnal penile tumescence monitoring by a Rigi-Scan (optional. Mean age of the population was 32 years. Psychogenic impotence was diagnosed in 50% of the patients and organic impotence was diagnosed in 45%. After the 3rd decade of life, a vasculogenic etiology was the most common cause of impotence. Smoking and hypertension played a major role as chronic contributing factors in the overall study population. Primary impotence was diagnosed in 11 patients who were unmarried. The rate of organic causes was 45% in this group (all vasculogenic in nature. Erectile dysfunction in younger patients and in patients with primary impotence is due mainly to organic causes, usually vascular in origin.

  6. Toward a better understanding of the mechanisms of symbiosis: a comprehensive proteome map of a nascent insect symbiont.

    Science.gov (United States)

    Renoz, François; Champagne, Antoine; Degand, Hervé; Faber, Anne-Marie; Morsomme, Pierre; Foray, Vincent; Hance, Thierry

    2017-01-01

    Symbiotic bacteria are common in insects and can affect various aspects of their hosts' biology. Although the effects of insect symbionts have been clarified for various insect symbiosis models, due to the difficulty of cultivating them in vitro , there is still limited knowledge available on the molecular features that drive symbiosis. Serratia symbiotica is one of the most common symbionts found in aphids. The recent findings of free-living strains that are considered as nascent partners of aphids provide the opportunity to examine the molecular mechanisms that a symbiont can deploy at the early stages of the symbiosis (i.e., symbiotic factors). In this work, a proteomic approach was used to establish a comprehensive proteome map of the free-living S. symbiotica strain CWBI-2.3 T . Most of the 720 proteins identified are related to housekeeping or primary metabolism. Of these, 76 were identified as candidate proteins possibly promoting host colonization. Our results provide strong evidence that S. symbiotica CWBI-2.3 T is well-armed for invading insect host tissues, and suggest that certain molecular features usually harbored by pathogenic bacteria are no longer present. This comprehensive proteome map provides a series of candidate genes for further studies to understand the molecular cross-talk between insects and symbiotic bacteria.

  7. Toward a better understanding of the mechanisms of symbiosis: a comprehensive proteome map of a nascent insect symbiont

    Directory of Open Access Journals (Sweden)

    François Renoz

    2017-05-01

    Full Text Available Symbiotic bacteria are common in insects and can affect various aspects of their hosts’ biology. Although the effects of insect symbionts have been clarified for various insect symbiosis models, due to the difficulty of cultivating them in vitro, there is still limited knowledge available on the molecular features that drive symbiosis. Serratia symbiotica is one of the most common symbionts found in aphids. The recent findings of free-living strains that are considered as nascent partners of aphids provide the opportunity to examine the molecular mechanisms that a symbiont can deploy at the early stages of the symbiosis (i.e., symbiotic factors. In this work, a proteomic approach was used to establish a comprehensive proteome map of the free-living S. symbiotica strain CWBI-2.3T. Most of the 720 proteins identified are related to housekeeping or primary metabolism. Of these, 76 were identified as candidate proteins possibly promoting host colonization. Our results provide strong evidence that S. symbiotica CWBI-2.3T is well-armed for invading insect host tissues, and suggest that certain molecular features usually harbored by pathogenic bacteria are no longer present. This comprehensive proteome map provides a series of candidate genes for further studies to understand the molecular cross-talk between insects and symbiotic bacteria.

  8. 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.

  9. Diagnostic and therapeutic implications of genetic heterogeneity in myeloid neoplasms uncovered by comprehensive mutational analysis

    Directory of Open Access Journals (Sweden)

    Sarah M. Choi

    2017-01-01

    Full Text Available While growing use of comprehensive mutational analysis has led to the discovery of innumerable genetic alterations associated with various myeloid neoplasms, the under-recognized phenomenon of genetic heterogeneity within such neoplasms creates a potential for diagnostic confusion. Here, we describe two cases where expanded mutational testing led to amendment of an initial diagnosis of chronic myelogenous leukemia with subsequent altered treatment of each patient. We demonstrate the power of comprehensive testing in ensuring appropriate classification of genetically heterogeneous neoplasms, and emphasize thoughtful analysis of molecular and genetic data as an essential component of diagnosis and management.

  10. Molecular epidemiology: new rules for new tools?

    Science.gov (United States)

    Merlo, Domenico Franco; Sormani, Maria Pia; Bruzzi, Paolo

    2006-08-30

    Molecular epidemiology combines biological markers and epidemiological observations in the study of the environmental and genetic determinants of cancer and other diseases. The potential advantages associated with biomarkers are manifold and include: (a) increased sensitivity and specificity to carcinogenic exposures; (b) more precise evaluation of the interplay between genetic and environmental determinants of cancer; (c) earlier detection of carcinogenic effects of exposure; (d) characterization of disease subtypes-etiologies patterns; (e) evaluation of primary prevention measures. These, in turn, may translate into better tools for etiologic research, individual risk assessment, and, ultimately, primary and secondary prevention. An area that has not received sufficient attention concerns the validation of these biomarkers as surrogate endpoints for cancer risk. Validation of a candidate biomarker's surrogacy is the demonstration that it possesses the properties required for its use as a substitute for a true endpoint. The principles underlying the validation process underwent remarkable developments and discussion in therapeutic research. However, the challenges posed by the application of these principles to epidemiological research, where the basic tool for this validation (i.e., the randomized study) is seldom possible, have not been thoroughly explored. The validation process of surrogacy must be applied rigorously to intermediate biomarkers of cancer risk before using them as risk predictors at the individual as well as at the population level.

  11. Review Article: The Role of Molecular Pathological Epidemiology in the Study of Neoplastic and Non-neoplastic Diseases in the Era of Precision Medicine.

    Science.gov (United States)

    Ogino, Shuji; Nishihara, Reiko; VanderWeele, Tyler J; Wang, Molin; Nishi, Akihiro; Lochhead, Paul; Qian, Zhi Rong; Zhang, Xuehong; Wu, Kana; Nan, Hongmei; Yoshida, Kazuki; Milner, Danny A; Chan, Andrew T; Field, Alison E; Camargo, Carlos A; Williams, Michelle A; Giovannucci, Edward L

    2016-07-01

    Molecular pathology diagnostics to subclassify diseases based on pathogenesis are increasingly common in clinical translational medicine. Molecular pathological epidemiology (MPE) is an integrative transdisciplinary science based on the unique disease principle and the disease continuum theory. While it has been most commonly applied to research on breast, lung, and colorectal cancers, MPE can investigate etiologic heterogeneity in non-neoplastic diseases, such as cardiovascular diseases, obesity, diabetes mellitus, drug toxicity, and immunity-related and infectious diseases. This science can enhance causal inference by linking putative etiologic factors to specific molecular biomarkers as outcomes. Technological advances increasingly enable analyses of various -omics, including genomics, epigenomics, transcriptomics, proteomics, metabolomics, metagenomics, microbiome, immunomics, interactomics, etc. Challenges in MPE include sample size limitations (depending on availability of biospecimens or biomedical/radiological imaging), need for rigorous validation of molecular assays and study findings, and paucities of interdisciplinary experts, education programs, international forums, and standardized guidelines. To address these challenges, there are ongoing efforts such as multidisciplinary consortium pooling projects, the International Molecular Pathological Epidemiology Meeting Series, and the Strengthening the Reporting of Observational Studies in Epidemiology-MPE guideline project. Efforts should be made to build biorepository and biobank networks, and worldwide population-based MPE databases. These activities match with the purposes of the Big Data to Knowledge (BD2K), Genetic Associations and Mechanisms in Oncology (GAME-ON), and Precision Medicine Initiatives of the United States National Institute of Health. Given advances in biotechnology, bioinformatics, and computational/systems biology, there are wide open opportunities in MPE to contribute to public

  12. Etiological explanation, treatability and preventability of childhood autism: a survey of Nigerian healthcare workers' opinion

    Directory of Open Access Journals (Sweden)

    Okonkwo Kevin O

    2009-02-01

    Full Text Available Abstract Background Because of their peculiar sociocultural background, healthcare workers in sub-Saharan African subcultures may have various conceptions on different aspects of autism spectrum disorders (ASD, such as etiology, treatment and issues of prognosis. These various conceptions, if different from current knowledge in literature about ASD, may negatively influence help-seeking behavior of parents of children with ASD who seek advice and information from the healthcare workers. This study assessed the opinions of healthcare workers in Nigeria on aspects of etiology, treatability and preventability of childhood autism, and relates their opinions to the sociodemographic variables. Methods Healthcare workers working in four tertiary healthcare facilities located in the south-east and south-south regions of Nigeria were interviewed with a sociodemographic questionnaire, personal opinion on etiology, treatability and preventability of childhood autism (POETPCA questionnaire and knowledge about childhood autism among health workers (KCAHW questionnaire to assess their knowledge and opinions on various aspects of childhood autism. Results A total of 134 healthcare workers participated in the study. In all, 78 (58.2%, 19 (14.2% and 36 (26.9% of the healthcare workers were of the opinion that the etiology of childhood autism can be explained by natural, preternatural and supernatural causes, respectively. One (0.7% of the healthcare workers was unsure of the explanation of the etiology. Knowledge about childhood autism as measured by scores on the KCAHW questionnaire was the only factor significantly associated with the opinions of the healthcare workers on etiology of childhood autism. In all, 73 (54.5% and 43 (32.1%, of the healthcare workers subscribed to the opinion that childhood autism is treatable and preventable respectively. Previous involvement with managing children with ASD significantly influenced the opinion of the healthcare

  13. Molecular Determinants of Colon Cancer Susceptibility in the East and West.

    Science.gov (United States)

    Abdel-Rahman, W M; Faris, M E; Peltomaki, P

    2017-01-01

    The currently available knowledge of factors that dictate the development and progression as well as the clinical outcome of colorectal cancers (CRC) is mainly derived from Western countries. Considerable number of publications document different incidence rates and contrasting clinical features of CRC in various groups such as the differences between urban vs. rural areas, young vs. old age and the East vs. the West. In particular, Egyptian CRC is a surprisingly young age disease with higher proportion of poorly differentiated and advanced stage cancers as compared to the Western counterparts. Less number of publications addressed the molecular genetics and epigenetic basis of these differences. The available data on CRC and other cancers support a substantial role of several environmental risk factors which impinge on the epigenome and alter the overall cellular and tissue homeostasis. Thus, environmental factors could play a role in predisposition to CRC in general as well as in shaping distinct disease phenotypes in different settings. On the other hand, the environment offers a wide range of preventive modalities including a selection of dietary chemopreventive agents which could play a significant role in fighting cancer at early stages. We here compare the clinical and molecular characteristics of Eastern and Western CRC based on the latest literature. The genetic, epigenetic and environmental etiologies for the observed differences are discussed. Finally, prospects for cancer prevention in light of the increased etiologic understanding are outlined. Copyright© Bentham Science Publishers; For any queries, please email at epub@benthamscience.org.

  14. [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.

  15. Should Controls With Respiratory Symptoms Be Excluded From Case-Control Studies of Pneumonia Etiology? Reflections From the PERCH Study.

    Science.gov (United States)

    Higdon, Melissa M; Hammitt, Laura L; Deloria Knoll, Maria; Baggett, Henry C; Brooks, W Abdullah; Howie, Stephen R C; Kotloff, Karen L; Levine, Orin S; Madhi, Shabir A; Murdoch, David R; Scott, J Anthony G; Thea, Donald M; Driscoll, Amanda J; Karron, Ruth A; Park, Daniel E; Prosperi, Christine; Zeger, Scott L; O'Brien, Katherine L; Feikin, Daniel R

    2017-06-15

    Many pneumonia etiology case-control studies exclude controls with respiratory illness from enrollment or analyses. Herein we argue that selecting controls regardless of respiratory symptoms provides the least biased estimates of pneumonia etiology. We review 3 reasons investigators may choose to exclude controls with respiratory symptoms in light of epidemiologic principles of control selection and present data from the Pneumonia Etiology Research for Child Health (PERCH) study where relevant to assess their validity. We conclude that exclusion of controls with respiratory symptoms will result in biased estimates of etiology. Randomly selected community controls, with or without respiratory symptoms, as long as they do not meet the criteria for case-defining pneumonia, are most representative of the general population from which cases arose and the least subject to selection bias. © The Author 2017. Published by Oxford University Press for the Infectious Diseases Society of America.

  16. Genetic characterization, species differentiation and detection of Fasciola spp. by molecular approaches.

    Science.gov (United States)

    Ai, Lin; Chen, Mu-Xin; Alasaad, Samer; Elsheikha, Hany M; Li, Juan; Li, Hai-Long; Lin, Rui-Qing; Zou, Feng-Cai; Zhu, Xing-Quan; Chen, Jia-Xu

    2011-06-10

    Liver flukes belonging to the genus Fasciola are among the causes of foodborne diseases of parasitic etiology. These parasites cause significant public health problems and substantial economic losses to the livestock industry. Therefore, it is important to definitively characterize the Fasciola species. Current phenotypic techniques fail to reflect the full extent of the diversity of Fasciola spp. In this respect, the use of molecular techniques to identify and differentiate Fasciola spp. offer considerable advantages. The advent of a variety of molecular genetic techniques also provides a powerful method to elucidate many aspects of Fasciola biology, epidemiology, and genetics. However, the discriminatory power of these molecular methods varies, as does the speed and ease of performance and cost. There is a need for the development of new methods to identify the mechanisms underpinning the origin and maintenance of genetic variation within and among Fasciola populations. The increasing application of the current and new methods will yield a much improved understanding of Fasciola epidemiology and evolution as well as more effective means of parasite control. Herein, we provide an overview of the molecular techniques that are being used for the genetic characterization, detection and genotyping of Fasciola spp..

  17. Survey of 2002 cases of liver cirrhosis: Identification of etiological factors and related complications

    Directory of Open Access Journals (Sweden)

    AI Min

    2013-05-01

    Full Text Available ObjectiveTo identify the etiologies and associated complications of liver cirrhosis for new cases emerging over the past decade in the region served by the Second Affiliated Clinical College of Chongqing University of Medical Sciences. MethodsThe institute′s inpatient medical record database was searched for all individuals admitted with a new diagnosis of liver cirrhosis between January 2002 and December 2011. Data on demographics and clinical findings were collected for retrospective analysis to determine the regional and temporal profiles of etiologies and complications. The count data, expressed as percent of total, was analyzed by the Chi-squared test. ResultsAmong the total 2002 liver cirrhosis cases, the most frequent etiologies (＞1.5% of total were viral hepatitis type B (60.6%, fatty liver caused by both hepatitis B virus (HBV and alcohol (16.6%, alcoholic fatty liver (6.6%, autoimmune liver disease (3.4%, autoimmune liver disease and alcohol (3.2%, and nonalcoholic fatty liver (1.7%. From the first half of the decade to the second half (January 2002-December 2006 vs. January 2007-December 2011, the incidences of two etiologies significantly increased (HBV and alcohol: 13.6% vs. 17.7%, P＜0.05 and autoimmune liver disease: 3.5% vs. 7.1%, P＜0.05 and the incidence of HBV significantly decreased (641% vs. 59.3%, P＜0.05. The most common major complications of cirrhosis were primary hepatocellular carcinoma (HCC; 221%, spontaneous peritonitis (21.3%, upper gastrointestinal bleeding (193%, hepatic encephalopathy (7.3%, and hepatorenal syndrome (4.0%. The incidence of liver cancer was significantly higher in patients with a family history of hepatitis B (31.1% vs. 222%, P＜0.05 and positively correlated with HBV DNA load (χ2 = 10.88, P＜0.05. ConclusionIn Chongqing, HBV remains a major cause of cirrhosis, even though alcoholism and autoimmune disease are rising in importance as etiological factors, and HCC is still the

  18. Intermediate uveitis: pattern of etiology, complications, treatment and outcome in a tertiary academic center.

    Science.gov (United States)

    Ness, Thomas; Boehringer, Daniel; Heinzelmann, Sonja

    2017-04-27

    Patients with intermediate uveitis (IU) represent a heterogenous group characterized by a wide spectrum of etiologies and regional differences. Aim of the study was to analyze the characteristics of patients with IU examined in an academic center in Germany. We conducted a retrospective analysis of the clinical records of all patients with intermediate uveitis referred to the Eye Center, University of Freiburg from 2007 to 2014. Diagnosis followed the Standardization in Uveitis Nomenclature (SUN) criteria. Data analysis included: etiology of IU, demographics, complications, treatment and visual acuity. We identified 159 patients with intermediate uveitis during that period. Mean age at diagnosis was 35 years. Most are female (64%), and the mean duration of IU was 6.1 years (range 1 month - 35 years). Etiology of IU was idiopathic in 59%. Multiple sclerosis (MS) (20%) and sarcoidosis (10%) were frequent systemic causes of IU. Other etiologies including infectious diseases (tuberculosis, borreliosis) or immune-mediated conditions (eg, after vaccination) were present in 11%. The pattern of complications included macular edema (CME) (36%), cataract (24%), secondary glaucoma (7%), and epiretinal membrane formation (19%). Periphlebitis and optic neuritis were more frequent in conjunction with MS. Treatment comprised local and systemic steroids, immunosuppressive agents, biologics, and surgery. Best corrected visual acuity was better than 20/25 in 60% of the eyes after more than 10 years of follow-up. In our German academic center, most IU cases were idiopathic or associated with MS or sarcoidosis. In contrast to other countries, infectious cases were rare. Patients' overall visual prognosis is favorable even when the duration of IU has been long and and despite numerous complications.

  19. Etiological factors of carpal tunnel syndrome in subjects occupationally exposed to monotype wrist movements

    Directory of Open Access Journals (Sweden)

    Magdalena Lewańska

    2014-04-01

    Full Text Available Background: Carpal tunnel syndrome (CTS is the most common neuropathy of upper limbs and a leading cause of upper extremity musculoskeletal disorders, in terms of work exposure, repetitive and forceful exertions of the hand and use of vibrating hand tools. The aim of the study was to evaluate etiological factors of carpal tunnel syndrome in subjects occupationally exposed to monotype movements in wrist. Material and Methods: We conducted the retrospective analysis of 300 patients (261 women, 39 men, mean age 52 years (standard deviation: ±6.93 hospitalized with the suspicion of occupational CTS. Results: The study revealed high percentage (68.7% of diseases and systemic factors involved in the pathogenesis of CTS in the analyzed population, especially obesity (32%, thyroid diseases (28.7%, hormone replacement therapy and/or oophorectomy (16.3% and diabetes mellitus (12%. In 111 patients the coexistence of at least a couple of potential etiological factors of the neuropathy was recognized. Clinical analysis and occupational exposure allowed to diagnose occupational carpal tunnel syndrome in 18 (6% patients only. The undeniable long-term (20.2±9.3 years occupational exposure to repetitive, forceful movements in the wrist was observed in this group. Conclusion: The results of our study indicated that non-occupational etiological factors of CTS predominated and in 37% of patients at least several factors were found. The analysis showed the high prevalence of CTS in workers employed in various sectors of industry, including so called "blue collar" workers. Our study confirmed the multifactorial etiology of carpal tunnel syndrome, however, occupational agents contributed to only 6% of cases. Med Pr 2014;65(2:261–270

  20. 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...

  1. 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

  2. Recurrent balanoposthitis of mixed etiology: relation to oral sex and selection of an efficient treatment method

    Directory of Open Access Journals (Sweden)

    O. B. Demianova

    2014-01-01

    Full Text Available Goal. To study the dependence between the recurrent balanoposthitis of mixed etiology and oral sex. To assess the efficacy, tolerance and cosmetic acceptability of a combination topical drug on the basis of a cream for the treatment of balanoposthitis of Candida and bacterial etiology. Materials and methods. An open-label single-arm non-randomized study involved 48 men aged 22-43 suffering from recurrent balanoposthitis of mixed etiology and their long-term sex partners. All of the subjects underwent the following tests: complete blood count, clinical urine test, blood biochemistry (AST, ALT, total bilirubin, thymol test and blood glucose, MRSA, blood tests for anti-hepatitis B and C virus antibodies, HIV-1/-2 antibody screening test, microscopy of urethral, vaginal and cervical canal materials, PCR for Chlamydia trachomatis, Trichomonas vaginalis, N. gonorrhoeae, Mycoplasma genitalium, Ureaplasma spp, bacterial swab tests based on urethral materials (in men, vaginal materials (in women and throat (in subjects of both sexes, and microscopy of tongue scrapings. 46 male patients used the Candiderm cream (Glenmark Pharmaceuticals Ltd. for 10-14 days. Physicians assessed the efficacy based on the symptom intensity and patient’s opinion. Results. In people who practiced unprotected oral sex, a high contamination of mucous coats in the oral cavity, throat and genitals with yeast fungi and opportunistic bacteria was revealed. C. Аlbicans was often found in diagnostically significant amounts in couples. The authors substantiate the possibility of a contact-type transmission of opportunistic bacteria during oral sex resulting in balanoposthitis of mixed Candida and bacterial etiology or exacerbation of their condition after sexual contacts in men practicing unprotected oral sex. Evident clinical efficacy and safety of the combination as well as good tolerance and convenience of application of the combination topical drug comprising beclomethasone

  3. PERCH in Perspective: What Can It Teach Us About Pneumonia Etiology in Children?

    Science.gov (United States)

    Klugman, Keith P; Rodgers, Gail L

    2017-06-15

    The pneumonia team at the Bill & Melinda Gates Foundation congratulates the Pneumonia Etiology Research for Child Health (PERCH) study on delivering on their grant to collect high-quality data from thousands of children with World Health Organization-defined severe and very severe pneumonia and from controls in 9 diverse sites in 7 low- and middle-income countries. This supplement sets the foundation to understanding this complex study by providing an in-depth description of the study methodology, including discussion of key aspects such as antibiotic pretreatment, chest radiograph interpretation, utility of induced sputum in children, measurement of pathogen density, and use of C-reactive protein, and how these affect pneumonia etiology. © The Author 2017. Published by Oxford University Press for the Infectious Diseases Society of America.

  4. Some simulation aspects, from molecular systems to stochastic geometries of pebble bed reactors

    International Nuclear Information System (INIS)

    Mazzolo, A.

    2009-06-01

    After a brief presentation of his teaching and supervising activities, the author gives an overview of his research activities: investigation of atoms under high intensity magnetic field (investigation of the electronic structure under these fields), studies of theoretical and numerical electrochemistry (simulation coupling molecular dynamics and quantum calculations, comprehensive simulations of molecular dynamics), and studies relating stochastic geometry and neutron science

  5. Molecular Dimensions of Gastric Cancer: Translational and Clinical Perspectives

    Directory of Open Access Journals (Sweden)

    Yoon Young Choi

    2016-01-01

    Full Text Available Gastric cancer is a global health burden and has the highest incidence in East Asia. This disease is complex in nature because it arises from multiple interactions of genetic, local environmental, and host factors, resulting in biological heterogeneity. This genetic intricacy converges on molecular characteristics reflecting the pathophysiology, tumor biology, and clinical outcome. Therefore, understanding the molecular characteristics at a genomic level is pivotal to improving the clinical care of patients with gastric cancer. A recent landmark study, The Cancer Genome Atlas (TCGA project, showed the molecular landscape of gastric cancer through a comprehensive molecular evaluation of 295 primary gastric cancers. The proposed molecular classification divided gastric cancer into four subtypes: Epstein-Barr virus–positive, microsatellite unstable, genomic stable, and chromosomal instability. This information will be taken into account in future clinical trials and will be translated into clinical therapeutic decisions. To fully realize the clinical benefit, many challenges must be overcome. Rapid growth of high-throughput biology and functional validation of molecular targets will further deepen our knowledge of molecular dimensions of this cancer, allowing for personalized precision medicine.

  6. Molecular Dimensions of Gastric Cancer: Translational and Clinical Perspectives.

    Science.gov (United States)

    Choi, Yoon Young; Noh, Sung Hoon; Cheong, Jae-Ho

    2016-01-01

    Gastric cancer is a global health burden and has the highest incidence in East Asia. This disease is complex in nature because it arises from multiple interactions of genetic, local environmental, and host factors, resulting in biological heterogeneity. This genetic intricacy converges on molecular characteristics reflecting the pathophysiology, tumor biology, and clinical outcome. Therefore, understanding the molecular characteristics at a genomic level is pivotal to improving the clinical care of patients with gastric cancer. A recent landmark study, The Cancer Genome Atlas (TCGA) project, showed the molecular landscape of gastric cancer through a comprehensive molecular evaluation of 295 primary gastric cancers. The proposed molecular classification divided gastric cancer into four subtypes: Epstein-Barr virus-positive, microsatellite unstable, genomic stable, and chromosomal instability. This information will be taken into account in future clinical trials and will be translated into clinical therapeutic decisions. To fully realize the clinical benefit, many challenges must be overcome. Rapid growth of high-throughput biology and functional validation of molecular targets will further deepen our knowledge of molecular dimensions of this cancer, allowing for personalized precision medicine.

  7. Cell-of-Origin Patterns Dominate the Molecular Classification of 10,000 Tumors from 33 Types of Cancer

    NARCIS (Netherlands)

    Hoadley, Katherine A.; Yau, Christina; Hinoue, Toshinori; Wolf, Denise M.; Lazar, Alexander J.; Drill, Esther; Shen, Ronglai; Taylor, Alison M.; Cherniack, Andrew D.; Thorsson, Vésteinn; Akbani, Rehan; Bowlby, Reanne; Wong, Christopher K.; Wiznerowicz, Maciej; Sanchez-Vega, Francisco; Robertson, A. Gordon; Schneider, Barbara G.; Lawrence, Michael S.; Noushmehr, Houtan; Malta, Tathiane M.; 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 C.; 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.; Gonzalez, Ana Maria Angulo; Behrens, Carmen; Bondaruk, olanta; 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; Pinero, Edna M.Mora; 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; Stuart, Joshua M.; Benz, Christopher C.; Laird, Peter W.

    2018-01-01

    We conducted comprehensive integrative molecular analyses of the complete set of tumors in The Cancer Genome Atlas (TCGA), consisting of approximately 10,000 specimens and representing 33 types of cancer. We performed molecular clustering using data on chromosome-arm-level aneuploidy, DNA

  8. [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.

  9. Quantum Dot Platform for Single-Cell Molecular Profiling

    Science.gov (United States)

    Zrazhevskiy, Pavel S.

    In-depth understanding of the nature of cell physiology and ability to diagnose and control the progression of pathological processes heavily rely on untangling the complexity of intracellular molecular mechanisms and pathways. Therefore, comprehensive molecular profiling of individual cells within the context of their natural tissue or cell culture microenvironment is essential. In principle, this goal can be achieved by tagging each molecular target with a unique reporter probe and detecting its localization with high sensitivity at sub-cellular resolution, primarily via microscopy-based imaging. Yet, neither widely used conventional methods nor more advanced nanoparticle-based techniques have been able to address this task up to date. High multiplexing potential of fluorescent probes is heavily restrained by the inability to uniquely match probes with corresponding molecular targets. This issue is especially relevant for quantum dot probes---while simultaneous spectral imaging of up to 10 different probes is possible, only few can be used concurrently for staining with existing methods. To fully utilize multiplexing potential of quantum dots, it is necessary to design a new staining platform featuring unique assignment of each target to a corresponding quantum dot probe. This dissertation presents two complementary versatile approaches towards achieving comprehensive single-cell molecular profiling and describes engineering of quantum dot probes specifically tailored for each staining method. Analysis of expanded molecular profiles is achieved through augmenting parallel multiplexing capacity with performing several staining cycles on the same specimen in sequential manner. In contrast to other methods utilizing quantum dots or other nanoparticles, which often involve sophisticated probe synthesis, the platform technology presented here takes advantage of simple covalent bioconjugation and non-covalent self-assembly mechanisms for straightforward probe

  10. 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

  11. 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.

  12. The Etiology and Clinical Course of Chronic Pancreatitis in Children With Early Onset of the Disease.

    Science.gov (United States)

    Wejnarska, Karolina; Kolodziejczyk, Elwira; Wertheim-Tysarowska, Katarzyna; Dadalski, Maciej; Sobczynska-Tomaszewska, Agnieszka; Kierkus, Jarosław; Bal, Jerzy; Rygiel, Agnieszka Magdalena; Oracz, Grzegorz

    2016-12-01

    The etiological factors of chronic pancreatitis (CP) in children differ from those in adults. To date, no study has assessed the clinical course of CP in young children. The aim of our study was to evaluate the etiology and the clinical presentation of the disease in children with disease onset before 5 years of age in comparison to later-onset of CP. A total of 276 children with CP, hospitalized from 1988 to 2015, were enrolled in the study. Data on presentation, diagnostic findings, and treatment were reviewed. Two hundred sixty patients were screened for the most frequent mutations in major pancreatitis-associated genes, such as cationic trypsinogen/serine protease gene (PRSS1), serine protease inhibitor, Kazal type 1 gene (SPINK1), and cystic fibrosis transmembrane conductance regulator gene (CFTR). The disease onset before the age of 5 years occurred in 51 patients (group 1), the later onset in 225 patients (group 2). We found no significant discrepancies in distribution of the etiological factors between groups. The youngest patients (group 1) had more pancreatitis episodes (median 5.0 vs 3.00; P pancreatic function. Early- and later-onset pancreatitis have similar etiological factors with predominance of gene mutations. The most frequent mutation found was p.Asn34Ser (N34S) in SPINK1 gene. The clinical presentation differed in number of pancreatitis episodes and frequency of surgeries.

  13. Lack of Evidence for Molecular Mimicry in HIV-Infected Subjects.

    Directory of Open Access Journals (Sweden)

    Peter D Burbelo

    Full Text Available Previous studies in HIV patients have reported autoantibodies to several human proteins, including erythropoietin (EPO, interferon-α (IFN-α, interleukin-2 (IL-2, and HLA-DR, as potential mediators of anemia or immunosuppression. The etiology of these autoantibodies has been attributed to molecular mimicry between HIV epitopes and self-proteins. Here, the Luciferase Immunoprecipitation System (LIPS was used to investigate the presence of such autoantibodies in HIV-infected adults. High levels of antibodies to HIV proteins such as capsid (p24, matrix (p17, envelope (gp41, and reverse transcriptase (RT were detected using LIPS in both untreated and anti-retroviral-treated HIV-infected individuals but not in uninfected controls. LIPS readily detected anti-EPO autoantibodies in serum samples from subjects with presumptive pure red cell aplasia but not in any of the samples from HIV-infected or uninfected individuals. Similarly, subjects with HIV lacked autoantibodies to IFN-α, IL-2, HLA-DR and the immunoglobulin lambda light chain; all purported targets of molecular mimicry. While molecular mimicry between pathogen proteins and self-proteins is a commonly proposed mechanism for autoantibody production, the findings presented here indicate such a process is not common in HIV disease.

  14. 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.

  15. Molecular Investigation of Pediatric Portuguese Patients with Sensorineural Hearing Loss

    Directory of Open Access Journals (Sweden)

    Célia Nogueira

    2011-01-01

    Full Text Available The understanding of the molecular genetics in sensorineural hearing loss (SNHL has advanced rapidly during the last decade, but the molecular etiology of hearing impairment in the Portuguese population has not been investigated thoroughly. To provide appropriate genetic testing and counseling to families, we analyzed the whole mitochondrial genome in 95 unrelated children with SNHL (53 nonsyndromic and 42 syndromic and searched for variations in two frequent genes, GJB2 and GJB6, in the non-syndromic patients. Mutations in mtDNA were detected in 4.2% of the cases, including a hitherto undescribed change in the mtDNA-tRNATrp gene (namely, m.5558A>G. We also identified mono- or biallelic GJB2 mutations in 20 of 53 non-syndromic cases and also detected two novel mutations (p.P70R and p.R127QfsX84. Our data further reinforce the notion that genetic heterogeneity is paramount in children with SNHL.

  16. 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

  17. Correlation analysis of the Taurus molecular cloud complex

    International Nuclear Information System (INIS)

    Kleiner, S.C.

    1985-01-01

    Autocorrelation and power spectrum methods were applied to the analysis of the density and velocity structure of the Taurus Complex and Heiles Cloud 2 as traced out by 13 CO J = 1 → 0 molecular line observations obtained with the 14m antenna of the Five College Radio Astronomy Observatory. Statistically significant correlations in the spacing of density fluctuations within the Taurus Complex and Heiles 2 were uncovered. The length scales of the observed correlations correspond in magnitude to the Jeans wavelengths characterizing gravitational instabilities with (i) interstellar atomic hydrogen gas for the case of the Taurus complex, and (ii) molecular hydrogen for Heiles 2. The observed correlations may be the signatures of past and current gravitational instabilities frozen into the structure of the molecular gas. The appendices provide a comprehensive description of the analytical and numerical methods developed for the correlation analysis of molecular clouds

  18. 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

  19. 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...

  20. Molecular epidemiology of childhood leukemia with emphasis on chemical exposures

    Energy Technology Data Exchange (ETDEWEB)

    Buffler, P.A.; Smith, M.T.; Wood, S. [Univ. of California, Berkeley, CA (United States); Reynolds, P. [California Dept. of Health Services, Emeryville, CA (United States)

    1996-12-31

    Developing markets in the Pacific Basin depend heavily on the production and export of consumer goods. The generation of hazardous waste as a by-product of industrial production can be linked to adverse health outcomes, such as childhood leukemia, in ways that are presently unknown. In California, exposures resulting from hazardous waste disposal are of concern in the etiology of childhood cancer. Approximately 63% of the 57 hazardous waste sites that the U.S. Environmental Protection Agency (USEPA) included in the national priority list under the Comprehensive Environmental Response, Compensation and Liability Act (CERCLA) statute were in the six-county San Francisco Bay area. This area includes California`s Silicon Valley, where a disproportionate majority of these sites are located. Although only one study links hazardous waste disposal to childhood leukemia evidence is accumulating that in utero and maternal pesticide exposures as well as chemical exposures during childhood are important in the etiology of childhood leukemia. This study investigates whether children with leukemia have common genetic changes, whether children with genetic changes experience common chemical exposures, and whether the occurrences of these genetic changes correspond to the same temporal sequence as exposure. The purpose of this paper is to describe the study design and report on the status of research activity. 10 refs., 1 fig., 3 tabs.

  1. Etiology of Fever of Unknown Origin in Children from Mumbai, India.

    Science.gov (United States)

    Landge, Amruta Avinash; Singhal, Tanu

    2018-01-15

    This descriptive study evaluated 49 children with fever lasting for more than 7 days at a tertiary hospital in urban Mumbai. Etiologic diagnosis could be established in 88% of the cases. Infections were the causein 34 (79%)patients, 6 (14%) were diagnosed as collagen vascular diseases, and 3 (7%) had other cause.

  2. Silencing the Patient: Freud, Sexual Abuse, and "The Etiology of Hysteria."

    Science.gov (United States)

    McOmber, James B.

    1996-01-01

    States that, in "The Etiology of Hysteria," Sigmund Freud's "seduction theory" asserted that child sexual abuse was the single cause of adult hysteria. Argues that Freud's failure to persuade his audience can be attributed not only to their denial of sexual abuse but also to his failure to clarify how pschyoanalysis could…

  3. Investigation of Clinical Characteristics and Etiological Factors in Children with Molar Incisor Hypomineralization

    Directory of Open Access Journals (Sweden)

    Maria Rita Giuca

    2018-01-01

    Full Text Available Aim. The purpose of the present study was to evaluate the clinical defects and etiological factors potentially involved in the onset of MIH in a pediatric sample. Methods. 120 children, selected from the university dental clinic, were included: 60 children (25 boys and 35 girls; average age: 9.8 ± 1.8 years with MIH formed the test group and 60 children (27 boys and 33 girls; average age: 10.1 ± 2 years without MIH constituted the control group. Distribution and severity of MIH defects were evaluated, and a questionnaire was used to investigate the etiological variables; chi-square, univariate, and multivariate statistical tests were performed (significance level set at p<0.05. Results. A total of 186 molars and 98 incisors exhibited MIH defects: 55 molars and 75 incisors showed mild defects, 91 molars and 20 incisors had moderate lesions, and 40 molars and 3 incisors showed severe lesions. Univariate and multivariate statistical analysis showed a significant association (p<0.05 between MIH and ear, nose, and throat (ENT disorders and the antibiotics used during pregnancy (0.019. Conclusions. Moderate defects were more frequent in the molars, while mild lesions were more frequent in the incisors. Antibiotics used during pregnancy and ENT may be directly involved in the etiology of MIH in children.

  4. Near-death experiences in non-life-threatening events and coma of different etiologies

    Directory of Open Access Journals (Sweden)

    Vanessa eCharland-Verville

    2014-05-01

    Full Text Available Background: Near death experiences (NDEs are increasingly being reported as a clearly identifiable physiological and psychological reality of clinical significance. However, the definition and causes of the phenomenon as well as the identification of NDE experiencers is still a matter of debate. To date, the most widely used standardized tool to identify and characterize NDEs in research is the Greyson NDE Scale. Using this scale, retrospective and prospective studies have been trying to estimate their incidence in various populations but few studies have tackled to associate the experiences’ intensity and content related to etiology. Methods: This retrospective investigation assessed the most frequently recounted features of self-reported NDEs after a non-life-threatening event (i.e., NDE-like experience or after a pathological coma (i.e., classical NDEs and according to the etiology of the acute brain insult. We also compared our retrospectively acquired data in anoxic coma with historical data from the published literature on prospective post-anoxic studies using the Greyson NDE Scale. Results: From our 190 reports who met the criteria for NDE (i.e., NDE scale total score Conclusions: It appears that real NDEs after coma of different etiologies are similar to NDE-like experiences occurring after non-life threatening events. Subjects reporting NDEs retrospectively tend to have experienced a different content compared to the prospective experiencers

  5. Associated risk factors for chronic kidney disease of unknown etiologies in 241 patients.

    Science.gov (United States)

    Xing, Xuexue; Lu, Jing; Wang, Zheng

    2015-04-01

    Apart from the well-known etiologies, there are still a high proportion of patients with chronic kidney disease of unknown etiology (CKDu), which has rarely been reported on. In this study, we explored the potential associated risk factors for CKDu and identified those that occur in childhood. 700 patients with CKD we were selected randomly from 4 hospitals in Chengdu and 241 were screened for CKDu. The following clinical information was analyzed: demographic data, life style, personal and family history, nephrotoxic drugs, exposure to poison, allergies, and recurrent respiratory infections in childhood. Among 700 CKD patients, 34.43% (241/700) were CKDu. Of the 241 patients, there were 67.63% (163/241) with at least 1 associated risk factor and 56.44% (92/163) with more than 1. Patients with a personal history of an associated risk factor represented the largest proportion (31.95%, 77/241), while 28.63% (69/241) of the CKDu patients had risk factors appearing in childhood. Logistic regression analysis supported the results. The study demonstrated that most so-called CKDu patients do have an identifiable etiology, and that several associated risk factors contribute to it. Of all the risk factors, age >60 years, nephrotoxic drugs, exposure to poison, and alcohol consumption were the independent significant factors for CKDu. Furthermore, many risk factors that caused kidney injury started in childhood.

  6. An unusual pathology with an undefined etiology:solitary fibrous tumors of the pleura.

    Science.gov (United States)

    Turhan, Kutsal; Özdil, Ali; Ergönül, Ayşe Gül; Nart, Deniz; Çakan, Alpaslan; Çağirici, Ufuk

    2016-06-23

    The aim of the present study was to evaluate the etiology and clinical and pathological behavior of solitary fibrous tumors of the pleura (SFTPs), as well as the most appropriate surgical approach and the results of long-term follow-up of this condition. Clinical and long-term follow-up records of 14 patients who had surgery for SFTP between 2001 and 2014 were reviewed retrospectively. Etiological factors, diagnostic procedures, and clinical courses and outcomes for these patients were studied. Of the 14 patients, 8 were male (57%) and 6 were female (43%) patients. The mean age was 54.14 ± 10.35 (41-75) years. There was no remarkable common etiological factor. Preoperative diagnosis was achieved only in 2 patients. Predominant symptoms were cough and chest pain. Complete resection was achieved in all patients. Video-assisted thoracic surgery (VATS) was performed in 8 patients. All but one patient were classified as having benign SFTP. The mean follow-up was 58.5 ± 41.4 (10-132) months and no recurrence was noted in the follow-up. These rarely seen tumors of the pleura are usually benign and asymptomatic and their preoperative diagnosis is difficult. Clinical and pathological behavior is still unpredictable and the treatment consists of complete resection. Minimally invasive techniques such as VATS are recommended for surgery if the tumor size is appropriate.

  7. Surgical Site Infections in Pediatric Spine Surgery: Comparative Microbiology of Patients with Idiopathic and Nonidiopathic Etiologies of Spine Deformity.

    Science.gov (United States)

    Maesani, Matthieu; Doit, Catherine; Lorrot, Mathie; Vitoux, Christine; Hilly, Julie; Michelet, Daphné; Vidal, Christophe; Julien-Marsollier, Florence; Ilharreborde, Brice; Mazda, Keyvan; Bonacorsi, Stéphane; Dahmani, Souhayl

    2016-01-01

    Surgical site infections (SSIs) are a concern in pediatric spine surgery with unusually high rates for a clean surgery and especially for patients with deformity of nonidiopathic etiology. Microbiologic differences between etiologies of spine deformities have been poorly investigated. We reviewed all cases of SSI in spinal surgery between 2007 and 2011. Characteristics of cases and of bacteria according to the etiology of the spine disease were investigated. Of 496 surgeries, we identified 51 SSIs (10.3%) in 49 patients. Staphylococcus aureus was the most frequent pathogen whatever the etiology (n = 31, 61% of infection cases). The second most frequent pathogens vary according to the etiology of the spine deformity. It was Gram-negative bacilli (GNB) in nonidiopathic cases (n = 19, 45% of cases) and anaerobe in idiopathic cases (n = 8, 38% of cases), particularly Gram-positive anaerobic cocci (n = 5, 24% of cases). Infection rate was 6.8% in cases with idiopathic spine disease (n = 21) and 15.9% in cases with nonidiopathic spine disease (n = 30). Nonidiopathic cases were more frequently male with lower weight. American Society of Anesthesiologists score was more often greater than 2, they had more frequently sacral implants and postoperative intensive care unit stay. GNB were significantly associated with a nonidiopathic etiology, low weight, younger age and sacral fusion. SSIs were polymicrobial in 31% of cases with a mean of 1.4 species per infection cases. S. aureus is the first cause of SSI in pediatric spine surgery. However, Gram-positive anaerobic cocci should be taken into account in idiopathic patients and GNB in nonidiopathic patients when considering antibiotic prophylaxis and curative treatment.

  8. 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.

  9. Near infrared hyperspectral images and pattern recognition techniques used to identify etiological agents of cotton anthracnose and ramulosis

    Directory of Open Access Journals (Sweden)

    Priscila S.R. Aires

    2018-04-01

    Full Text Available Hyperspectral imaging near infrared (HSI-NIR has the potential to be used as a non-destructive approach for the analysis of new microbiological matrices of agriculture interest. This article describes a new method for accurately and rapidly classifying the etiological agents Colletotrichum gossypii (CG and C. gossypii var. cephalosporioides (CGC grown in a culture medium, using scattering reflectance HSI-NIR and multivariate pattern recognition analysis. Five strains of CG and 46 strains of CGC were used. CG and CGC strains were grown on Czapek-agar medium at 25 °C under a 12-hour photoperiod for 15 days. Molecular identification was performed as a reference for the CG and CGC classes by polymerase chain reaction of the intergenic spacer region of rDNA. The scattering coefficient µs and the absorption coefficient µa were obtained, which resulted in a µs value for CG of 1.37 × 1019 and for CGC of 5.83 × 10–11. These results showed that the use of the standard normal variate was no longer essential and reduced the spectral range from 1000–2500 nm to 1000–1381 nm. The results evidenced two type II errors for the CG 457-2 and CGC 39 samples in the soft independent modelling model of the analogy model. There were no classification errors using the algorithm of the successive projections for variable selection in linear discriminant analysis (SPA-LDA. A parallel validation of the results obtained with SPA-LDA was performed using a box plot analysis with the 11 variables selected by SPA, in which there were no outliers for the HSI-NIR models. The new HSI-NIR and SPA-LDA procedures for the classification of CG and CGC etiological agents are noted for their greater analytical speed, accuracy, simplicity, lower cost and non-destructive nature.

  10. TG13 current terminology, etiology, and epidemiology of acute cholangitis and cholecystitis

    NARCIS (Netherlands)

    Kimura, Yasutoshi; Takada, Tadahiro; Strasberg, Steven M.; Pitt, Henry A.; Gouma, Dirk J.; Garden, O. James; Büchler, Markus W.; Windsor, John A.; Mayumi, Toshihiko; Yoshida, Masahiro; Miura, Fumihiko; Higuchi, Ryota; Gabata, Toshifumi; Hata, Jiro; Gomi, Harumi; Dervenis, Christos; Lau, Wan-Yee; Belli, Giulio; Kim, Myung-Hwan; Hilvano, Serafin C.; Yamashita, Yuichi

    2013-01-01

    While referring to the evidence adopted in the Tokyo Guidelines 2007 (TG07) as well as subsequently obtained evidence, further discussion took place on terminology, etiology, and epidemiological data. In particular, new findings have accumulated on the occurrence of symptoms in patients with

  11. Prospective evaluation of yield of endoscopic ultrasonography in the etiological diagnosis of "idiopathic" acute pancreatitis

    Directory of Open Access Journals (Sweden)

    Narendra S Choudhary

    2016-01-01

    Full Text Available Background: Etiology of acute pancreatitis (AP remains idiopathic in 30% of patients. Endoscopic ultrasound (EUS has been shown to increase the diagnostic yield in patients with idiopathic AP (IAP. Aim: The aim of this study was to evaluate the role of EUS in achieving etiological diagnosis in patients with IAP. Materials and Methods: Consecutive 192 patients with IAP were evaluated prospectively with EUS over a period of 2 years. Patients who had no etiological diagnosis for AP after detailed history, clinical examination, laboratory investigations, and magnetic resonance cholangiopancreatography were included in the study. Results: The mean age of patients was 34.6 ± 12 and male:female ratio was 2.1:1. Of these, 135 patients had gallbladder intact (Group A and 57 patients had undergone cholecystectomy (Group B. In Group A, EUS identified a possible cause in 79 (58.5% patients; microlithiasis (n = 48, chronic pancreatitis (CP (n = 23, common bile duct (CBD and gallbladder stone (n = 3, pancreatic divisum (n = 3, small pancreatic tumor (n = 1, and anomalous pancreaticobiliary junction (n = 1. In Group B, EUS yielded diagnosis in 28 (49.1% patients; CP (n = 22, ascariasis (n = 3, CBD stone (n = 2, and pancreatic divisum (n = 1. Overall EUS helped in achieving etiological diagnosis in 107 (55.1% of patients with IAP. The presence of intact gallbladder showed a tendency for increased diagnostic yield (P = 0.06. Conclusion: EUS is a useful modality to establish the diagnosis in IAP and this technique should be incorporated in the evaluation of IAP.

  12. 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

  13. Etiology of Sudden Cardiac Arrest and Death in US Competitive Athletes: A 2-Year Prospective Surveillance Study.

    Science.gov (United States)

    Peterson, Danielle F; Siebert, David M; Kucera, Kristen L; Thomas, Leah Cox; Maleszewski, Joseph J; Lopez-Anderson, Martha; Suchsland, Monica Z; Harmon, Kimberly G; Drezner, Jonathan A

    2018-04-09

    To determine the etiology of sudden cardiac arrest and death (SCA/D) in competitive athletes through a prospective national surveillance program. Sudden cardiac arrest and death cases in middle school, high school, college, and professional athletes were identified from July 2014 to June 2016 through traditional and social media searches, reporting to the National Center for Catastrophic Sports Injury Research, communication with state and national high school associations, review of the Parent Heart Watch database, and search of student-athlete deaths on the NCAA Resolutions List. Autopsy reports and medical records were reviewed by a multidisciplinary panel to determine the underlying cause. US competitive athletes with SCA/D. Etiology of SCA/D. A total of 179 cases of SCA/D were identified (74 arrests with survival, 105 deaths): average age 16.6 years (range 11-29), 149 (83.2%) men, 94 (52.5%) whites, and 54 (30.2%) African American. One hundred seventeen (65.4%) had an adjudicated diagnosis, including 83 deaths and 34 survivors. The most common etiologies included hypertrophic cardiomyopathy (19, 16.2%), coronary artery anomalies (16, 13.7%), idiopathic left ventricular hypertrophy/possible cardiomyopathy (13, 11.1%), autopsy-negative sudden unexplained death (8, 6.8%), Wolff-Parkinson-White (8, 6.8%), and long QT syndrome (7, 6.0%). Hypertrophic cardiomyopathy was more common in male basketball (23.3%), football (25%), and African American athletes (30.3%). An estimated 56.4% of cases would likely demonstrate abnormalities on an electrocardiogram. The etiology of SCA/D in competitive athletes involves a wide range of clinical disorders. More robust reporting mechanisms, standardized autopsy protocols, and accurate etiology data are needed to better inform prevention strategies.

  14. Molecular pathological epidemiology of epigenetics: emerging integrative science to analyze environment, host, and disease.

    Science.gov (United States)

    Ogino, Shuji; Lochhead, Paul; Chan, Andrew T; Nishihara, Reiko; Cho, Eunyoung; Wolpin, Brian M; Meyerhardt, Jeffrey A; Meissner, Alexander; Schernhammer, Eva S; Fuchs, Charles S; Giovannucci, Edward

    2013-04-01

    Epigenetics acts as an interface between environmental/exogenous factors, cellular responses, and pathological processes. Aberrant epigenetic signatures are a hallmark of complex multifactorial diseases (including neoplasms and malignancies such as leukemias, lymphomas, sarcomas, and breast, lung, prostate, liver, and colorectal cancers). Epigenetic signatures (DNA methylation, mRNA and microRNA expression, etc) may serve as biomarkers for risk stratification, early detection, and disease classification, as well as targets for therapy and chemoprevention. In particular, DNA methylation assays are widely applied to formalin-fixed, paraffin-embedded archival tissue specimens as clinical pathology tests. To better understand the interplay between etiological factors, cellular molecular characteristics, and disease evolution, the field of 'molecular pathological epidemiology (MPE)' has emerged as an interdisciplinary integration of 'molecular pathology' and 'epidemiology'. In contrast to traditional epidemiological research including genome-wide association studies (GWAS), MPE is founded on the unique disease principle, that is, each disease process results from unique profiles of exposomes, epigenomes, transcriptomes, proteomes, metabolomes, microbiomes, and interactomes in relation to the macroenvironment and tissue microenvironment. MPE may represent a logical evolution of GWAS, termed 'GWAS-MPE approach'. Although epigenome-wide association study attracts increasing attention, currently, it has a fundamental problem in that each cell within one individual has a unique, time-varying epigenome. Having a similar conceptual framework to systems biology, the holistic MPE approach enables us to link potential etiological factors to specific molecular pathology, and gain novel pathogenic insights on causality. The widespread application of epigenome (eg, methylome) analyses will enhance our understanding of disease heterogeneity, epigenotypes (CpG island methylator

  15. Etiology and long-term functional swallow outcomes in pediatric unilateral vocal fold immobility.

    Science.gov (United States)

    Tibbetts, Kathleen M; Wu, Derek; Hsu, Jeffrey V; Burton, William B; Nassar, Michel; Tan, Melin

    2016-09-01

    Unilateral vocal fold immobility (UVFI) results in deficits in phonatory, respiratory, and swallow function of the pediatric patient. Little is known about long-term functional swallow outcomes. Medical records of children diagnosed with UVFI between 2005 and 2014 at a tertiary children's hospital were retrospectively reviewed. Etiology, laryngoscopy findings, and swallow status at diagnosis and follow-up were recorded. Swallow outcomes were compared by etiology using Fisher's exact test. McNemar's test was used to identify correlations between return of mobility and swallow recovery. Rates of pneumonia were compared with initial swallow evaluation results using a two-tailed t-test. Eighty-eight patients with UVFI were identified and 73 patients (47% female, mean age 14.4 months, standard deviation (SD) 26.7 months) had complete medical records. Mean follow up time was 52.7 months (SD 36.8 months). Etiologies included cardiothoracic surgery (68.5%), idiopathic (12.3%), prolonged intubation (11.0%), central nervous system (CNS) abnormality (5.5%), and non-cardiac iatrogenic injury to the recurrent laryngeal nerve (2.7%). Forty-seven patients underwent a follow up laryngoscopy, and recovery of vocal fold (VF) mobility was documented in 42.6% (20/47). At diagnosis, 31.5% fed orally, compared with 79.5% at follow-up. Direct correlation between recovery of VF mobility and swallow recovery was not demonstrated. Cardiac etiologies demonstrated higher rates of swallow recovery than CNS abnormalities (p = 0.0393). Twenty-five children aspirated on initial modified barium swallow (MBS) and 10 children developed pneumonias at some point during the follow up period. There was no significant difference in rates of pneumonia in patients with and without aspiration on MBS. Recovery of swallow in children with UVFI does not directly parallel return of VF mobility. Long-term swallow outcome is favorable in this population. Initial MBS does not indicate ultimate swallow outcome

  16. Mitochondrial and genomic ancestry are associated with etiology of heart failure in Brazilian patients.

    Science.gov (United States)

    Cardena, M M S G; Ribeiro-Dos-Santos, A K; Santos, S E B; Mansur, A J; Bernardez-Pereira, S; Santos, P C J L; Pereira, A C; Fridman, C

    2016-02-01

    There is a high prevalence of heart failure (HF) in the general population, but it is more common in black people. We evaluated the association between genomic ancestry and mitochondrial haplogroups (mt-haplogroups) with HF etiology in 503 Brazilian patients. We elicited Mt-haplogroups by analyzing the control region of mitochondrial DNA, and genomic ancestry, by using 48 autosomal insertion-deletion ancestry informative markers. Hypertensive (28.6%, n=144) and ischemic (28.4%, n=143) etiologies of HF were the most prevalent herein. Our results showed that 233 individuals (46.3%) presented African mitochondrial (mt)-haplogroups, and the major contribution in the genomic ancestry analysis was the European ancestry (57.5% (±22.1%)). African mt-haplogroups were positively associated with a diagnosis of hypertensive cardiomyopathy (odds ratio, OR 1.55, confidence interval, CI 95% 1.04-2.44, P=0.04) when compared with European mt-haplogroups. Regarding the genomic ancestry, the African ancestry variant had higher risks (OR 7.84, 95% CI 2.81-21.91, Pancestry variant had lower risks (OR 0.14, 95% CI 0.04-5.00, Pancestry showed an OR of 4.05 (CI 95% 1.53-10.74, P=0.005), whereas African ancestry showed an OR of 0.17 (CI 95% 0.06-0.48, P=0.001) for developing ischemic etiology. In conclusion, this study supports the importance of using ancestry informative markers and mitochondrial DNA to study the genetics of complex diseases in admixed populations to improve the management, treatment and prevention of these illnesses. Therefore, the ancestry informative markers and mt-haplogroups could provide new biomarkers to be associated with HF etiologies and be used as a premise for more specific management.

  17. 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)

  18. Caracterización clínica y molecular de individuos con el síndrome frágil X detectados por análisis inmunohistoquímico Clinical and molecular characterization of individuals with fragile X syndrome detected by immunohistochemical analysis

    Directory of Open Access Journals (Sweden)

    Iván Hernández García

    2004-09-01

    Full Text Available Se realizó el estudio de 50 varones con retraso mental y/o autismo de etiología desconocida a fin de detectar individuos afectados con el síndrome frágil X a través del análisis inmunohistoquímico y caracterizarlos clínica y molecularmente. Entre los casos pesquisados se detectaron 3 individuos con baja expresión de la proteína relacionada con el síndrome, a quienes se les realizó la caracterización molecular. La correlación inmunohistoquímica y molecular en 2 de ellos fue positiva. La no correlación de un tercero sugiere que pudiera tratarse de una mutación puntual o una deleción del gen relacionado con la enfermedad. En otro paciente con el fenotipo neuropsicológico y físico característicos de la enfermedad se observó una expresión promedio normal baja, lo que motivó la indicación de la caracterización molecular, que resultó ser positiva. Se discuten los mecanismos genéticos y fisiopatológicos que pudieran explicar la presencia de la proteína en las células analizadas.50 males with mental retardation and/or autism of unknown etiology were studied aimed at detecting individuals affected with the Fragile X syndrome by the immunohistochemical analysis and at characterizing them from the clinical and molecular point of view. Among the screneed subjects, 3 individuals with low expression of the protein related to the syndrome were detected. Molecular characterization was performed in these cases. The immunohistochemical and molecular correlation was positive in 2 of them. The non correlation of the third suggests that it may be a punctual mutation or a deletion of the gene connected with the disease. In another patient with the neuropsychological and physical phenotype characteristic of the disease, it was observed an average normal low expression that led to the indication of the molecular characterization, which proved to be positive. The genetic and physiopathological mechanisms that could explain the presence of

  19. 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

  20. Revisiting the etiological aspects of dissociative identity disorder: a biopsychosocial perspective

    Directory of Open Access Journals (Sweden)

    Şar V

    2017-05-01

    Full Text Available Vedat Şar,1 Martin J Dorahy,2 Christa Krüger3 1Department of Psychiatry, Koç University School of Medicine, Istanbul, Turkey; 2Department of Psychology, University of Canterbury, Christchurch, New Zealand; 3Department of Psychiatry, University of Pretoria, Pretoria, South Africa Abstract: Dissociative identity disorder (DID is a chronic post-traumatic disorder where developmentally stressful events in childhood, including abuse, emotional neglect, disturbed attachment, and boundary violations are central and typical etiological factors. Familial, societal, and cultural factors may give rise to the trauma and/or they may influence the expression of DID. Memory and the construction of self-identity are cognitive processes that appear markedly and centrally disrupted in DID and are related to its etiology. Enduring decoupling of psychological modes may create separate senses of self, and metamemory processes may be involved in interidentity amnesia. Neurobiological differences have been demonstrated between dissociative identities within patients with DID and between patients with DID and controls. Given the current evidence, DID as a diagnostic entity cannot be explained as a phenomenon created by iatrogenic influences, suggestibility, malingering, or social role-taking. On the contrary, DID is an empirically robust chronic psychiatric disorder based on neurobiological, cognitive, and interpersonal non-integration as a response to unbearable stress. While current evidence is sufficient to firmly establish this etiological stance, given the wide opportunities for innovative research, the disorder is still understudied. Comparison of well-selected samples of DID patients with non-dissociative subjects who have other psychiatric disorders would further delineate the neurobiological and cognitive features of the disorder, whereas genetic research on DID would further illuminate the interaction of the individual with environmental stress. As such

  1. Prevalence and etiologies of adult communication disabilities in the United States: Results from the 2012 National Health Interview Survey.

    Science.gov (United States)

    Morris, Megan A; Meier, Sarah K; Griffin, Joan M; Branda, Megan E; Phelan, Sean M

    2016-01-01

    Communication disabilities, including speech, language and voice disabilities, can significantly impact a person's quality of life, employment and health status. Despite this, little is known about the prevalence and etiology of communication disabilities in the general adult population. To assess the prevalence and etiology of communication disabilities in a nationally representative adult sample. We conducted a cross-sectional study and analyzed the responses of non-institutionalized adults to the Sample Adult Core questionnaire within the 2012 National Health Interview Survey. We used respondents' self-report of having a speech, language or voice disability within the past year and receiving a diagnosis for one of these communication disabilities, as well as the etiology of their communication disability. We additionally examined the responses by subgroups, including sex, age, race and ethnicity, and geographical area. In 2012 approximately 10% of the US adult population reported a communication disability, while only 2% of adults reported receiving a diagnosis. The rates of speech, language and voice disabilities and diagnoses varied across gender, race/ethnicity and geographic groups. The most common response for the etiology of a communication disability was "something else." Improved understanding of population prevalence and etiologies of communication disabilities will assist in appropriately directing rehabilitation and medical services; potentially reducing the burden of communication disabilities. Copyright © 2016 Elsevier Inc. All rights reserved.

  2. ["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.

  3. 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.

  4. 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)

  5. Chronic leucine supplementation improves glycemic control in etiologically distinct mouse models of obesity and diabetes mellitus

    Directory of Open Access Journals (Sweden)

    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

  6. An integrated perspective on diabetic, alcoholic, and drug-induced neuropathy, etiology, and treatment in the US

    Directory of Open Access Journals (Sweden)

    Zeng L

    2017-01-01

    Full Text Available Lily Zeng,1 Doungkamol Alongkronrusmee,2 Richard M van Rijn2 1Department of Internal Medicine, Vanderbilt University Medical Center, Nashville, TN, 2Department of Medicinal Chemistry and Molecular Pharmacology, Purdue University, West Lafayette, IN, USA Abstract: Neuropathic pain (NeuP is a syndrome that results from damaged nerves and/or aberrant regeneration. Common etiologies of neuropathy include chronic illnesses and medication use. Chronic disorders, such as diabetes and alcoholism, can cause neuronal injury and consequently NeuP. Certain medications with antineoplastic effects also carry an exquisitely high risk for neuropathy. These culprits are a few of many that are fueling the NeuP epidemic, which currently affects 7%–10% of the population. It has been estimated that approximately 10% and 7% of US adults carry a diagnosis of diabetes and alcohol disorder, respectively. Despite its pervasiveness, many physicians are unfamiliar with adequate treatment of NeuP, partly due to the few reviews that are available that have integrated basic science and clinical practice. In light of the recent Centers for Disease Control and Prevention guidelines that advise against the routine use of μ-opioid receptor-selective opioids for chronic pain management, such a review is timely. Here, we provide a succinct overview of the etiology and treatment options of diabetic and alcohol- and drug-induced neuropathy, three different and prevalent neuropathies fusing the combined clinical and preclinical pharmacological expertise in NeuP of the authors. We discuss the anatomy of pain and pain transmission, with special attention to key ion channels, receptors, and neurotransmitters. An understanding of pain neurophysiology will lead to a better understanding of the rationale for the effectiveness of current treatment options, and may lead to better diagnostic tools to help distinguish types of neuropathy. We close with a discussion of ongoing research

  7. A critical review of food-associated factors proposed in the etiology of feline hyperthyroidism.

    Science.gov (United States)

    van Hoek, Ingrid; Hesta, Myriam; Biourge, Vincent

    2015-10-01

    Since the first description of feline hyperthyroidism (HT) in 1979, several studies have been undertaken to define the etiology of the disease. Epidemiologic studies, after investigating non-food- and food-associated factors, suggest a multifactorial etiology. However, in the absence of prospective cohort studies that can confirm a cause-and-effect relationship between HT and associated risk factors, no causative factor for HT has been identified to date. Feline HT resembles toxic nodular goiter in humans, with autonomously functioning upregulated iodide uptake systems. Contribution of the diet to HT development remains controversial. The purpose of this paper is to review critically the reported food-associated risk factors for HT. © ISFM and AAFP 2014.

  8. Eating Disorders of the Adolescent: Current Issues in Etiology, Assessment, and Treatment.

    Science.gov (United States)

    Phelps, LeAdelle; Bajorek, Ellen

    1991-01-01

    Literature on the prevalence, symptomatology, and etiology of anorexia nervosa and bulimia in adolescents is reviewed. The school psychologist is in an essential position to help the adolescent and family. Assessment, consultation, and intervention strategies are discussed for the school psychologist, and psychological and pharmacological…

  9. The etiology of autistic traits in preschoolers : a population-based twin study

    NARCIS (Netherlands)

    de Zeeuw, E.L.; van Beijsterveldt, Catharina E M; Hoekstra, Rosa A; Bartels, Meike; Boomsma, Dorret I

    2017-01-01

    BACKGROUND: Autism Spectrum Disorders (ASD) are highly heritable, but the exact etiological mechanisms underlying the condition are still unclear. METHODS: Using a multiple rater twin design in a large sample of general population preschool twins, this study aimed to (a) estimate the contribution of

  10. A graph-clustering approach to search important molecular markers ...

    African Journals Online (AJOL)

    Here, we performed a comprehensive gene level assessment of Parkinson's disease using 16 colorectal cancer samples and nine normal samples. The results show that SLC6A3, SLC18A2, and EN1, etc., are related to Parkinson's disease. Besides, we further mined the underlying molecular mechanism within these ...

  11. 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.

  12. Atomic and molecular physics of controlled thermonuclear fusion

    International Nuclear Information System (INIS)

    Joachain, C.J.; Post, D.E.

    1983-01-01

    This book attempts to provide a comprehensive introduction to the atomic and molecular physics of controlled thermonuclear fusion, and also a self-contained source from which to start a systematic study of the field. Presents an overview of fusion energy research, general principles of magnetic confinement, and general principles of inertial confinement. Discusses the calculation and measurement of atomic and molecular processes relevant to fusion, and the atomic and molecular physics of controlled thermonuclear research devices. Topics include recent progress in theoretical methods for atomic collisions; current theoretical techniques for electron-atom and electronion scattering; experimental aspects of electron impact ionization and excitation of positive ions; the theory of charge exchange and ionization by heavy particles; experiments on electron capture and ionization by multiply charged ions; Rydberg states; atomic and molecular processes in high temperature, low-density magnetically confined plasmas; atomic processes in high-density plasmas; the plasma boundary region and the role of atomic and molecular processes; neutral particle beam production and injection; spectroscopic plasma diagnostics; and particle diagnostics for magnetic fusion experiments

  13. 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.

  14. An unusual etiological agent of implantable cardioverter device endocarditis: Corynebacterium mucifaciens

    Directory of Open Access Journals (Sweden)

    Adnan Kaya

    2016-03-01

    Full Text Available Cardiac pacing devices and implantable cardioverter defibrillator (ICD are becoming the mainstay of therapy in cardiology and infective endocarditis (IE and pocket infection; however, these devices require careful monitoring. Here, we describe a case of a 68-year-old female with an ICD presenting with a previously unknown etiological agent of IE, Corynebacterium mucifaciens.

  15. A study on prevalence and etiology of heart failure in Qatari residents: Data analysis from a tertiary hospital

    Directory of Open Access Journals (Sweden)

    Barman M, Djamel B.

    2014-07-01

    Full Text Available Objective: Heart failure is a multi-faceted syndrome with diverse etiologies. Knowledge of the cause can be crucial to therapy and management including long term strategy planning. The aim of this study is to analyze the prevalence and etiology of heart failure present in Qatari residents, which is a mix of multiple ethnicities. Qatar is today one of the leading growing economies of the world and witnessing a population boom. It is currently undergoing major lifestyle changes, which comes with aplenty due to recently discovered vast natural resources. Enhanced knowledge of disease incidence/prevalence in the Qatari environment can have a prospect of developing and evaluating novel and more effective approaches for disease prevention, diagnosis and treatment in the future. Methods: Our study was conducted in a total of 50 patients over a period of 21 months in a tertiary care institute. Detailed clinical history, followed by examination and laboratory tests were performed to identify the etiology and data analyzed to study the prevalence. Results: Our study revealed that in all cases of HF admitted in our hospital, 52% were males and 48% were females. The occurrence of Congestive Heart Failure (CHF was highest between 50 and 80 years in both males and females. The relation of CHF to various etiologies has been discussed. The data has also been compared with select international studies and the variations discussed. Conclusion: Major etiology of CHF was a combination of lifestyle disease, Hypertension, Diabetes Mellitus and Ischemic heart disease. Minor causes included Valvular heart disease, chronic arrhythmias, and myocarditis and conduction system disease.

  16. The Role of Multiplex Polymerase Chain Reaction in Detecting Etiological Causes of Bacterial Prostatitis Associated Benign Prostatic Hyperplasia

    Directory of Open Access Journals (Sweden)

    Bramastha Rosadi

    2015-01-01

    Full Text Available Background: Benign Prostatic Hyperplasia (BPH has been correlated with chronic prostatitis according recent study. Chronic pelvic pain is the chief complain of BPH followed by prostatitis. The gold standard of the etiological diagnosis is urine culture, but the negativity rate is still high. Multiplex polymerase chain reaction (PCR as a diagnostic tool in search of etiological causes could identify microorganism on DNA level. This research aims to find out the role of multiplex polymerase chain reaction as diagnostic tools on prostatitis patients. Material and Method: A total of 12 samples collected during the TURP procedure in Sanglah General Hospital Denpasar – Bali from February until May 2015. All of the samples has been diagnosed prostatitis clinically and perform urine culture test. The prostate specimen taken was sent to the Pathological anatomy for histopathology diagnostic and underwent multiplex PCR for etiologic diagnostic. Result: 12 samples have been declared as prostatitis based on histopathology examination, and then were analyzed using multiplex PCR. 10 samples were positive (6 were E. coli, 2 were C. trachomatis, the rest were N. gonorrhea and P. aeruginosa. The urine culture revealed 9 positive, within the result 6 were E. coli, and the others were P. aeruginosa, M. morganii and A. haemolyticus. Conclusion: In prostatitis patient, the etiological diagnostic was important. Multiplex PCR as diagnostic tools could detect the microorganism on a negative urine culture. The combination of the urine culture test and multiplex PCR revealed a better result on etiologic diagnosis which leads to a better management of the disease. 

  17. Interactive Molecular Graphics for Augmented Reality Using HoloLens.

    Science.gov (United States)

    Müller, Christoph; Krone, Michael; Huber, Markus; Biener, Verena; Herr, Dominik; Koch, Steffen; Reina, Guido; Weiskopf, Daniel; Ertl, Thomas

    2018-06-13

    Immersive technologies like stereo rendering, virtual reality, or augmented reality (AR) are often used in the field of molecular visualisation. Modern, comparably lightweight and affordable AR headsets like Microsoft's HoloLens open up new possibilities for immersive analytics in molecular visualisation. A crucial factor for a comprehensive analysis of molecular data in AR is the rendering speed. HoloLens, however, has limited hardware capabilities due to requirements like battery life, fanless cooling and weight. Consequently, insights from best practises for powerful desktop hardware may not be transferable. Therefore, we evaluate the capabilities of the HoloLens hardware for modern, GPU-enabled, high-quality rendering methods for the space-filling model commonly used in molecular visualisation. We also assess the scalability for large molecular data sets. Based on the results, we discuss ideas and possibilities for immersive molecular analytics. Besides more obvious benefits like the stereoscopic rendering offered by the device, this specifically includes natural user interfaces that use physical navigation instead of the traditional virtual one. Furthermore, we consider different scenarios for such an immersive system, ranging from educational use to collaborative scenarios.

  18. Estudio de usabilidad de visualización molecular educativa en un teléfono inteligente

    Directory of Open Access Journals (Sweden)

    Miguel A. García-Ruiz

    2012-01-01

    Full Text Available Chemistry students have difficulty understanding molecular structures and their functions. To aide their comprehension, molecular visualization software has been developed to run on smart phones, but in order to positively influence learning it must have a high degree of usability (usability measures how software is used in terms of efficiency, efficacy and satisfaction. This paper describes a usability study of molecular visualization software running on a smart phone, where chemistry students analyzed molecular models. Results showed very good usability and 95% of students wanted to use it in further classes.

  19. Identification and genotyping of the etiological agent of tuberculous lymphadenitis in Ethiopia

    NARCIS (Netherlands)

    Beyene, Demissew; Bergval, Indra; Hailu, Elena; Ashenafi, Senait; Yamuah, Lawrence; Aseffa, Abraham; Wiker, Harald G.; Engers, Howard; Klatser, Paul; Sviland, Lisbet

    2009-01-01

    In Ethiopia, little has been done to assess how Mycobacterium bovis has contributed to human tuberculosis, though the population routinely consumes unpasteurized milk and raw meat. The aim of this study was to determine the proportion of M. tuberculosis and M. bovis as etiological agents of

  20. 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

  1. Molecular phylogeny, morphology and bioacoustics reveal five additional species of arboreal microhylid frogs of the genus Anodonthyla from Madagascar

    NARCIS (Netherlands)

    Vences, M.; Glaw, F.; Köhler, J.; Wollenberg, K.C.

    2010-01-01

    We provide a partial revision of the microhylid frogs of the genus Anodonthyla, endemic to Madagascar, based on comprehensive molecular, bioacoustic and morphological data sets that include newly collected specimens from multiple localities. The molecular trees provide strong evidence for the

  2. Etiology and Outcome of Acute Renal Failure in Children in Congo-Brazzaville

    Directory of Open Access Journals (Sweden)

    Assounga Alain

    2000-01-01

    Full Text Available Acute renal failure (ARF is a common problem in the Congo. This is a six-year retrospective study aiming at analyzing the etiology and the outcome of ARF at the Brazzaville′s University Hospital from 1989 through 1994. One hundred and five cases of ARF (0.99%, including 54 boys (51.4% and 51 girls (48.6%, out of 10,512 children admitted in the department of Pediatrics have been recorded. ARF represented 13.09% of the causes in 802 patients with renal disorder. The main etiologies of ARF included acute gastroenteritis with dehydration (25.7%, nephrotic syndrome (14.7%, sepsis (15.23%, malaria (12.38%, and acute glomerulonephritis (9.5%. Most cases were managed conservatively, while peritoneal dialysis (PD was used in eight cases (7.62%. The outcome of ARF was recovery in 50.5 %, death in 37 % and chronic renal failure in 12.5% of cases. Preventive measures may help in reducing the high mortality rate and the need for dialysis.

  3. The Etiology of the Illnesses of the Psyche in the Hippocratic Texts

    Directory of Open Access Journals (Sweden)

    Niki Papavramidou

    2014-01-01

    Full Text Available The Hippocratic Corpus played a key role to the disengagement of illness from the divine element that was believed to be to cause of all illnesses and injuries. Especially for the illnesses of the psyche (some call it “self” or “soul”, the Hippocratic physicians managed to recognize their biological origin and to create a “primitive” nosological structure. The aim of this paper is to identify the etiological factors of the illnesses of the psyche, according to the Hippocratic authors and to correlate them to modern medical observations. The Hippocratic physicians enumerated certain etiological factors for the occurrence of the illnesses of the psyche: imbalance of the humours, injuries of the head, extreme emotions, along with environmental features that were supposed to favor the appearance of such illnesses, such as the climate, the quality of the water, the winds, etc. Keywords: Hippocratic medicine; History of medicine; history of psychiatry; psyche

  4. Measurement Frontiers in Molecular Biology

    Science.gov (United States)

    Laderman, Stephen

    2009-03-01

    Developments of molecular measurements and manipulations have long enabled forefront research in evolution, genetics, biological development and its dysfunction, and the impact of external factors on the behavior of cells. Measurement remains at the heart of exciting and challenging basic and applied problems in molecular and cell biology. Methods to precisely determine the identity and abundance of particular molecules amongst a complex mixture of similar and dissimilar types require the successful design and integration of multiple steps involving biochemical manipulations, separations, physical probing, and data processing. Accordingly, today's most powerful methods for characterizing life at the molecular level depend on coordinated advances in applied physics, biochemistry, chemistry, computer science, and engineering. This is well illustrated by recent approaches to the measurement of DNA, RNA, proteins, and intact cells. Such successes underlie well founded visions of how molecular biology can further assist in answering compelling scientific questions and in enabling the development of remarkable advances in human health. These visions, in turn, are motivating the interdisciplinary creation of even more comprehensive measurements. As a further and closely related consequence, they are motivating innovations in the conceptual and practical approaches to organizing and visualizing large, complex sets of interrelated experimental results and distilling from those data compelling, informative conclusions.

  5. Cancer Stratification by Molecular Imaging

    Directory of Open Access Journals (Sweden)

    Justus Weber

    2015-03-01

    Full Text Available The lack of specificity of traditional cytotoxic drugs has triggered the development of anticancer agents that selectively address specific molecular targets. An intrinsic property of these specialized drugs is their limited applicability for specific patient subgroups. Consequently, the generation of information about tumor characteristics is the key to exploit the potential of these drugs. Currently, cancer stratification relies on three approaches: Gene expression analysis and cancer proteomics, immunohistochemistry and molecular imaging. In order to enable the precise localization of functionally expressed targets, molecular imaging combines highly selective biomarkers and intense signal sources. Thus, cancer stratification and localization are performed simultaneously. Many cancer types are characterized by altered receptor expression, such as somatostatin receptors, folate receptors or Her2 (human epidermal growth factor receptor 2. Similar correlations are also known for a multitude of transporters, such as glucose transporters, amino acid transporters or hNIS (human sodium iodide symporter, as well as cell specific proteins, such as the prostate specific membrane antigen, integrins, and CD20. This review provides a comprehensive description of the methods, targets and agents used in molecular imaging, to outline their application for cancer stratification. Emphasis is placed on radiotracers which are used to identify altered expression patterns of cancer associated markers.

  6. Diagnostic yield of the comprehensive assessment of developmental delay/mental retardation in an institute of child neuropsychiatry.

    Science.gov (United States)

    Battaglia, A; Bianchini, E; Carey, J C

    1999-01-01

    , while confirming the diagnostic utility of cytogenetic/molecular genetic, and neuroimaging studies, suggest the usefulness of accurate electroencephalogram recordings, and stress the importance of a thorough physical examination. Referral to a university child neurology and psychiatry service, where a comprehensive assessment with a selected battery of investigations is possible, yields etiologic findings in a high percentage of DD/MR patients, with important implications for management, prognosis and recurrence risk estimate.

  7. Reclassification of clinical sleep disorders using traditional models of syndromic, neuroanatomic, pathophysiological and etiological diagnosis.

    Science.gov (United States)

    Spitzer, A Robert

    2014-09-01

    Existing classifications of central nervous system sleep disorders do not often provide tools to diagnose the majority of patients complaining of sleep-related symptoms, nor always guide effective treatment. I present a novel classification system that completely separates clinical syndromes from anatomical localization, pathophysiology, and etiology. The clinical syndrome I present can describe the majority of patients, but can be fractionated into individual subgroups for further study. By then separating the anatomy and physiology from the symptoms, an avenue of research becomes available to study the different possible structures that regulate sleep, that may be damaged and cause syndromes of sleep dysfunction. Some of these may produce symptoms that overlap with narcolepsy and some may be distinct. Because the clinical syndrome should be distinguished from anatomy or physiology, I have proposed the term narcoleptiform syndrome for the clinical syndrome. The model also clearly separates etiology from anatomy in a classical neurological manner. This allows etiology, localization and symptoms to be studied separately. It is likely that different etiologies may produce damage in areas that produce similar syndromes. For example, in this model, different causes of damage to the orexin nucleus would result in the same clinical syndrome. This reinforces the concept of studying anatomy, symptoms and etiology separately. By studying the relationship of syndromes or symptoms to anatomic localization and pathophysiology, it should be possible to test novel approaches to treatment based on different underlying structure or function. For example, patients with lesions in the ventrolateral preoptic nucleus or the thalamic intralaminar nuclei may both present with insomnia symptoms but need different treatment; or they might present with symptoms overlapping narcolepsy (a narcoleptiform syndrome) yet need different treatment. In some cases, a single treatment may cross over

  8. 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.

  9. Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy.

    Science.gov (United States)

    Helbig, Katherine L; Farwell Hagman, Kelly D; Shinde, Deepali N; Mroske, Cameron; Powis, Zöe; Li, Shuwei; Tang, Sha; Helbig, Ingo

    2016-09-01

    To assess the yield of diagnostic exome sequencing (DES) and to characterize the molecular findings in characterized and novel disease genes in patients with epilepsy. In an unselected sample of 1,131 patients referred for DES, overall results were compared between patients with and without epilepsy. DES results were examined based on age of onset and epilepsy diagnosis. Positive/likely positive results were identified in 112/293 (38.2%) epilepsy patients compared with 210/732 (28.7%) patients without epilepsy (P = 0.004). The diagnostic yield in characterized disease genes among patients with epilepsy was 33.4% (105/314). KCNQ2, MECP2, FOXG1, IQSEC2, KMT2A, and STXBP1 were most commonly affected by de novo alterations. Patients with epileptic encephalopathies had the highest rate of positive findings (43.4%). A likely positive novel genetic etiology was proposed in 14/200 (7%) patients with epilepsy; this frequency was highest in patients with epileptic encephalopathies (17%). Three genes (COQ4, DNM1, and PURA) were initially reported as likely positive novel disease genes and were subsequently corroborated in independent peer-reviewed publications. DES with analysis and interpretation of both characterized and novel genetic etiologies is a useful diagnostic tool in epilepsy, particularly in severe early-onset epilepsy. The reporting on novel genetic etiologies may further increase the diagnostic yield.Genet Med 18 9, 898-905.

  10. 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.

  11. Molecular physics. Theoretical principles and experimental methods

    International Nuclear Information System (INIS)

    Demtroeder, W.

    2005-01-01

    This advanced textbook comprehensively explains important principles of diatomic and polyatomic molecules and their spectra in two separate, distinct parts. The first part concentrates on the theoretical aspects of molecular physics, whereas the second part of the book covers experimental techniques, i.e. laser, Fourier, NMR, and ESR spectroscopies, used in the fields of physics, chemistry, biolog, and material science. Appropriate for undergraduate and graduate students in physics and chemistry with a knowledge of atomic physics and familiar with the basics of quantum mechanics. From the contents: - Electronic States of Molecules, - Rotation, Oscillation and Potential Curves of Diatomic Molecules, - The Spectra of Diatomic Molecules, - Molecule Symmetries and Group Theory, - Rotation and Oscillations of Polyatomic Molecules, - Electronic States of Polyatomic Molecules, - The Spectra of Polyatomic Molecules, - Collapse of the Born-Oppenheimer-Approximation, Disturbances in Molecular Spectra, - Molecules in Disturbing Fields, - Van-der-Waals-Molecules and Cluster, - Experimental Techniques in Molecular Physics. (orig.)

  12. 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

  13. Molecular genetic gene-environment studies using candidate genes in schizophrenia: a systematic review.

    Science.gov (United States)

    Modinos, Gemma; Iyegbe, Conrad; Prata, Diana; Rivera, Margarita; Kempton, Matthew J; Valmaggia, Lucia R; Sham, Pak C; van Os, Jim; McGuire, Philip

    2013-11-01

    The relatively high heritability of schizophrenia suggests that genetic factors play an important role in the etiology of the disorder. On the other hand, a number of environmental factors significantly influence its incidence. As few direct genetic effects have been demonstrated, and there is considerable inter-individual heterogeneity in the response to the known environmental factors, interactions between genetic and environmental factors may be important in determining whether an individual develops the disorder. To date, a considerable number of studies of gene-environment interactions (G×E) in schizophrenia have employed a hypothesis-based molecular genetic approach using candidate genes, which have led to a range of different findings. This systematic review aims to summarize the results from molecular genetic candidate studies and to review challenges and opportunities of this approach in psychosis research. Finally, we discuss the potential of future prospects, such as new studies that combine hypothesis-based molecular genetic candidate approaches with agnostic genome-wide association studies in determining schizophrenia risk. © 2013 Elsevier B.V. All rights reserved.

  14. The etiology of mathematical and reading (dis)ability covariation in a sample of Dutch twins.

    Science.gov (United States)

    Markowitz, Ezra M; Willemsen, Gonneke; Trumbetta, Susan L; van Beijsterveldt, Toos C E M; Boomsma, Dorret I

    2005-12-01

    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 and reading (dis)ability in adolescent twins. Ratings of mathematical and reading problems were obtained from parents of over 1500 twin pairs. Results of bivariate structural equation modeling showed a genetic correlation around .60, which explained over 90% of the phenotypic correlation between mathematical and reading ability. The genetic model was the same for males and females.

  15. Psychosocial factors in the etiology of breast cancer: review of a popular link.

    Science.gov (United States)

    Bleiker, E M; van der Ploeg, H M

    1999-07-01

    Breast cancer is the most frequently occurring type of cancer in women in the western world. The etiology of a large proportion of breast cancers is still unexplained, and the possibility that psychosocial factors could play a role is not ruled out. Already in pre-Christian times, it was assumed that psychological factors might play a significant role in the development of breast cancer. However, studies have failed to produce conclusive results. There is still a lack of knowledge on the relationship between breast cancer development and psychosocial factors such as stressful life events, coping styles, depression, and the ability to express emotions. The results of this review show that there is not enough evidence that psychosocial factors like 'ways of coping' or 'non-expression of negative emotions', play a significant role in the etiology of breast cancer.

  16. Genetic characterization, species differentiation and detection of Fasciola spp. by molecular approaches

    Directory of Open Access Journals (Sweden)

    Li Hai-Long

    2011-06-01

    Full Text Available Abstract Liver flukes belonging to the genus Fasciola are among the causes of foodborne diseases of parasitic etiology. These parasites cause significant public health problems and substantial economic losses to the livestock industry. Therefore, it is important to definitively characterize the Fasciola species. Current phenotypic techniques fail to reflect the full extent of the diversity of Fasciola spp. In this respect, the use of molecular techniques to identify and differentiate Fasciola spp. offer considerable advantages. The advent of a variety of molecular genetic techniques also provides a powerful method to elucidate many aspects of Fasciola biology, epidemiology, and genetics. However, the discriminatory power of these molecular methods varies, as does the speed and ease of performance and cost. There is a need for the development of new methods to identify the mechanisms underpinning the origin and maintenance of genetic variation within and among Fasciola populations. The increasing application of the current and new methods will yield a much improved understanding of Fasciola epidemiology and evolution as well as more effective means of parasite control. Herein, we provide an overview of the molecular techniques that are being used for the genetic characterization, detection and genotyping of Fasciola spp..

  17. Psychosocial work environment and registered absence from work: estimating the etiologic fraction

    DEFF Research Database (Denmark)

    Nielsen, Martin L; Rugulies, Reiner; Smith-Hansen, Lars

    2006-01-01

    or supervisor, predictability, and meaning of work were assessed with questionnaires at baseline and sickness absence was followed-up in employers' registers for 1,919 respondents (response rate 75.2%, 68% women, mainly low-skilled jobs) from 52 Danish workplaces during a 2-year period. Etiologic fractions (EFs...

  18. 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.

  19. A first comprehensive census of fungi in soil reveals both hyperdiversity and fine-scale niche partitioning

    Science.gov (United States)

    D. Lee Taylor; Teresa N. Hollingsworth; Jack W. McFarland; Niall J. Lennon; Chad Nusbaum; Roger W. Ruess

    2014-01-01

    Fungi play key roles in ecosystems as mutualists, pathogens, and decomposers. Current estimates of global species richness are highly uncertain, and the importance of stochastic vs. deterministic forces in the assembly of fungal communities is unknown. Molecular studies have so far failed to reach saturated, comprehensive estimates of fungal diversity. To obtain a more...

  20. Elevated expression of the cellular src gene in tumors of differing etiologies in Xiphophorus

    Energy Technology Data Exchange (ETDEWEB)

    Schartl, M.; Schmidt, C.R.; Anders, A.; Barnekow, A.

    1985-08-15

    In the fish Xiphophorus the authors have detected elevated levels of pp60c-src kinase activity in a variety of tumors (n = 34) of neurogenic, epithelial, and mesenchymal origin either of hereditary etiology or induced by carcinogens. This elevation ranged from 2-fold up to 50-fold compared to the corresponding non-tumorous tissue and up to 6-fold compared to the highest activities found in any of the normal organs. The level of elevation parallels the degree of malignancy in melanoma and in tumors of mesenchymal origin. In fish bearing tumors of hereditary etiology kinase activity was also elevated in the non-tumorous brain, while in fish bearing induced tumors, kinase activity was elevated only in the cells of the neoplasia.

  1. Molecular target discovery for neural repair in the functional genomics era

    NARCIS (Netherlands)

    Verhaagen, J.; van Kesteren, R.E.; Bossers, K.A.; Mac Gillavry, H.D.; Mason, M.R.; Smit, A.B.

    2012-01-01

    A comprehensive understanding of the molecular pathways activated by traumatic neural injury is of major importance for the development of treatments for spinal cord injury (SCI). High-throughput gene expression profiling is a powerful approach to reveal genome-wide changes in gene expression during

  2. Risk factor profile by etiological subtype of ischemic stroke in the young.

    Science.gov (United States)

    Jaffre, Aude; Ruidavets, Jean Bernard; Calviere, Lionel; Viguier, Alain; Ferrieres, Jean; Larrue, Vincent

    2014-05-01

    Studies of risk factors for ischemic stroke in the young have generally considered ischemic stroke as a whole. The purpose of the present study was to evaluate the association of traditional cardiovascular risk factors with etiological subtypes of ischemic stroke in young adults. Retrospective review of data from patients aged 16-54 years consecutively treated for first-ever ischemic stroke in an academic stroke unit. Definite causes of stroke were classified using the ASCO (A for atherothrombosis, S for small vessel disease, C for cardiac source, O for other cause) classification system. We used multinomial logistic regression analysis to evaluate associations of age, gender, smoking, hypertension, diabetes and blood lipids with each etiological subtype. A total of 400 patients were included: 244 men (61.1%), 156 women (38.9%); mean age (SD) 44.5 (8.5) years. A definite cause of stroke could be identified in 202 (50.5%) patients. Definite causes of stroke included: atherothrombosis, 72 (18.0%) patients; cardioembolism, 37 (9.25%) patients; small vessel disease, 28 (7.0%) patients; other definite cause, 65 (16.25%) patients including 44 patients with carotid or vertebral artery dissection. Atherothrombosis was associated with age, smoking, diabetes, hypertension and low HDL-cholesterol. Small vessel disease was associated with age and hypertension. Cardioembolism was associated with age. The risk factor profile differs between etiological subtypes of ischemic stroke in young adults. Our findings emphasize the impact of smoking, diabetes, hypertension and low HDL-cholesterol as risk factors for atherothrombosis, and of hypertension as a risk factor for small vessel disease in young adults. Copyright © 2014 Elsevier B.V. All rights reserved.

  3. Etiology of Acute Respiratory Infections in Infants: A Prospective Birth Cohort Study.

    Science.gov (United States)

    Kumar, Prawin; Medigeshi, Guruprasad R; Mishra, Vishnu S; Islam, Mojahidul; Randev, Shivani; Mukherjee, Aparna; Chaudhry, Rama; Kapil, Arti; Ram Jat, Kana; Lodha, Rakesh; Kabra, Sushil K

    2017-01-01

    There is paucity of studies on etiology of acute respiratory infections (ARI) in infants. The objective of this study is to document incidence and etiology of ARI in infants, their seasonal variability and association of clinical profile with etiology. A birth cohort was followed for the first year of life; for each episode of ARI, nasopharyngeal aspirates were collected to identify the causative respiratory virus(es) using multiplex real-time polymerase chain reaction assay. For lower respiratory tract infections blood culture, serum procalcitonin, serum antibodies to Mycoplasma and Chlamydia and urinary Streptococcus pneumoniae antigen were also assayed. A total of 503 ARI episodes were documented in 310 infants for an incidence rate of 1.8 episodes per infant per year. Of these, samples were processed in 395 episodes (upper respiratory tract infection: 377; lower respiratory tract infection: 18). One or more viruses were detected in 250 (63.3%) episodes and viral coinfections in 72 (18.2%) episodes. Rhinovirus was the most common virus [105 (42%)] followed by respiratory syncytial virus [50 (20%)], parainfluenza virus [42 (16.8%)] and coronavirus [44 (17.6%)]. In lower respiratory tract infections, viral infections were detected in 12 (66.7%) episodes, bacterial infections in 17 (94.4%) episodes and mixed bacterial-viral infections in 8 (44.4%) episodes. Peak incidence of viruses was observed during February-March and September-November. There was no significant difference in symptom duration with virus types. In this cohort of infants, ARI incidence was 1.8 episodes per year per infant; 95% were upper respiratory tract infections. Viruses were identified in 63.3% episodes, and the most common viruses detected were rhinovirus, respiratory syncytial virus and parainfluenza virus.

  4. 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.

  5. 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.

  6. Design of Carborane Molecular Architectures via Electronic Structure Computations

    International Nuclear Information System (INIS)

    Oliva, J.M.; Serrano-Andres, L.; Klein, D.J.; Schleyer, P.V.R.; Mich, J.

    2009-01-01

    Quantum-mechanical electronic structure computations were employed to explore initial steps towards a comprehensive design of poly carborane architectures through assembly of molecular units. Aspects considered were (i) the striking modification of geometrical parameters through substitution, (ii) endohedral carboranes and proposed ejection mechanisms for energy/ion/atom/energy storage/transport, (iii) the excited state character in single and dimeric molecular units, and (iv) higher architectural constructs. A goal of this work is to find optimal architectures where atom/ion/energy/spin transport within carborane superclusters is feasible in order to modernize and improve future photo energy processes.

  7. 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.

  8. 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

  9. 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

  10. 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.

  11. 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

  12. 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

  13. THE IMPORTANCE OF HERPESVIRUSES IN THE ETIOLOGY OF A NUMBER OF INFECTIOUS AND SOMATIC DISEASES OF CHILDREN

    Directory of Open Access Journals (Sweden)

    T. N. Rybalkina

    2017-01-01

    Full Text Available The article is devoted to study the etiological role of herpes viruses in infectious and somatic pathology of children (n = 770 using the complex of methods of laboratory diagnostics. Determined the leading etiological role of HSV in children with neuroinfections (12,7% during primary infection and in children with intrauterine infection (29,0% during its reactivation. It is shown that in 50,9% of cases, the diagnosis of «infectious mononucleosis» confirmed by the detection of markers of acute EBV-infection, and 20,0%, it was replaced by mononucleotides syndrome was discovered markers of acute CMV-infection, and 18,1% — markers of acute HHV-6-infection. The role of HHV-6 as the primary etiologic agent of the disease is established at 36,3% of children admitted with convulsive syndrome on the background of febrile, at 29,1% — a sudden exanthema and 25,5% — with fever of unknown origin.  

  14. Evaluation of Etiology and Treatment Methods for Epistaxis: A Review at a Tertiary Care Hospital in Central Nepal

    Science.gov (United States)

    2015-01-01

    Introduction. Epistaxis is one of the most common emergencies in Otorhinolaryngology. It is usually managed with simple conservative measures but occasionally it is a life threatening condition. Identification of the cause is important, as it reflects the management plan being followed. Aims and Objectives. To analyze the etiology and treatment methods for patients with epistaxis. Methods. A retrospective study was done in a tertiary care hospital in central Nepal. The study period was from May 2014 to April 2015. Results. A total of 84 patients had epistaxis; 52 were males and 32 were females. The most common cause of epistaxis was idiopathic (38.09%) followed by hypertension (27.38%), trauma (15.47%), and coagulopathy (8.33%). Regarding treatment methods, most (52.38%) of our patients required anterior nasal packing. Chemical cautery was sufficient to stop bleeding in 14.28% of patients while electrocautery and posterior nasal packing were performed in 2.38% and 16.66% patients, respectively. Two (2.38%) patients required endoscopic sphenopalatine arterial ligation. Conclusion. Hypertension, trauma and coagulopathy were the most common etiological factors among the patients in whom etiology was found although in most of the patients etiology could not be found. Anterior nasal packing was the most common treatment method applied to these patients. PMID:26346242

  15. Evaluation of Etiology and Treatment Methods for Epistaxis: A Review at a Tertiary Care Hospital in Central Nepal.

    Science.gov (United States)

    Parajuli, Ramesh

    2015-01-01

    Introduction. Epistaxis is one of the most common emergencies in Otorhinolaryngology. It is usually managed with simple conservative measures but occasionally it is a life threatening condition. Identification of the cause is important, as it reflects the management plan being followed. Aims and Objectives. To analyze the etiology and treatment methods for patients with epistaxis. Methods. A retrospective study was done in a tertiary care hospital in central Nepal. The study period was from May 2014 to April 2015. Results. A total of 84 patients had epistaxis; 52 were males and 32 were females. The most common cause of epistaxis was idiopathic (38.09%) followed by hypertension (27.38%), trauma (15.47%), and coagulopathy (8.33%). Regarding treatment methods, most (52.38%) of our patients required anterior nasal packing. Chemical cautery was sufficient to stop bleeding in 14.28% of patients while electrocautery and posterior nasal packing were performed in 2.38% and 16.66% patients, respectively. Two (2.38%) patients required endoscopic sphenopalatine arterial ligation. Conclusion. Hypertension, trauma and coagulopathy were the most common etiological factors among the patients in whom etiology was found although in most of the patients etiology could not be found. Anterior nasal packing was the most common treatment method applied to these patients.

  16. Evaluation of Etiology and Treatment Methods for Epistaxis: A Review at a Tertiary Care Hospital in Central Nepal

    Directory of Open Access Journals (Sweden)

    Ramesh Parajuli

    2015-01-01

    Full Text Available Introduction. Epistaxis is one of the most common emergencies in Otorhinolaryngology. It is usually managed with simple conservative measures but occasionally it is a life threatening condition. Identification of the cause is important, as it reflects the management plan being followed. Aims and Objectives. To analyze the etiology and treatment methods for patients with epistaxis. Methods. A retrospective study was done in a tertiary care hospital in central Nepal. The study period was from May 2014 to April 2015. Results. A total of 84 patients had epistaxis; 52 were males and 32 were females. The most common cause of epistaxis was idiopathic (38.09% followed by hypertension (27.38%, trauma (15.47%, and coagulopathy (8.33%. Regarding treatment methods, most (52.38% of our patients required anterior nasal packing. Chemical cautery was sufficient to stop bleeding in 14.28% of patients while electrocautery and posterior nasal packing were performed in 2.38% and 16.66% patients, respectively. Two (2.38% patients required endoscopic sphenopalatine arterial ligation. Conclusion. Hypertension, trauma and coagulopathy were the most common etiological factors among the patients in whom etiology was found although in most of the patients etiology could not be found. Anterior nasal packing was the most common treatment method applied to these patients.

  17. Molecular targets of epigenetic regulation and effectors of environmental influences

    International Nuclear Information System (INIS)

    Choudhuri, Supratim; Cui Yue; Klaassen, Curtis D.

    2010-01-01

    The true understanding of what we currently define as epigenetics evolved over time as our knowledge on DNA methylation and chromatin modifications and their effects on gene expression increased. The current explosion of research on epigenetics and the increasing documentation of the effects of various environmental factors on DNA methylation, chromatin modification, as well as on the expression of small non-coding RNAs (ncRNAs) have expanded the scope of research on the etiology of various diseases including cancer. The current review briefly discusses the molecular mechanisms of epigenetic regulation and expands the discussion with examples on the role of environment, such as the immediate environment during development, in inducing epigenetic changes and modulating gene expression.

  18. Construction of a molecular clone of ovine enzootic nasal tumor virus.

    Science.gov (United States)

    Walsh, Scott R; Gerpe, María Carla Rosales; Wootton, Sarah K

    2016-12-30

    Enzootic nasal tumor virus (ENTV-1) is an ovine betaretrovirus that has been linked to enzootic nasal adenocarcinoma (ENA), a contagious tumor of the ethmoid turbinates of sheep. Transmission experiments performed using virus isolated from cell free nasal tumor homogenates suggest that ENTV-1 is the causative agent of ENA; however, this etiological relationship has not been conclusively proven due to the fact that the virus cannot be propagated in vitro nor is there an infectious molecular clone of the virus. Here we report construction of a molecular clone of ENTV-1 and demonstrate that transfection of this molecular clone into HEK 293T cells produces mature virus particles. Analysis of recombinant virus particles derived from the initial molecular clone revealed a defect in the proteolytic processing of Gag; however, this defect could be corrected by co-expression of the Gag-Pro-Pol polyprotein from the highly related Jaagsiekte sheep retrovirus (JSRV) suggesting that the polyprotein cleavage sites in the ENTV-1 molecular clone were functional. Mutagenesis of the molecular clone to correct amino acid variants identified within the pro gene did not restore proteolytic processing; whereas deletion of one proline residue from a polyproline tract located in variable region 1 (VR1) of the matrix resulted in production of CA protein of the mature (cleaved) size strongly suggesting that normal virion morphogenesis and polyprotein cleavage took place. Finally, electron microscopy revealed the presence of spherical virus particles with an eccentric capsid and an average diameter of about 100 nm. In summary, we have constructed the first molecular clone of ENTV-1 from which mature virus particles can be produced. Future experiments using virus produced from this molecular clone can now be conducted to fulfill Koch's postulates and demonstrate that ENTV-1 is necessary and sufficient to induce ENA in sheep.

  19. 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.

  20. Rotavirus mortality confirmed by etiologic identification in Venezuelan children with diarrhea.

    Science.gov (United States)

    Pérez-Schael, Irene; Salinas, Belén; González, Rosabel; Salas, Hans; Ludert, Juan Ernesto; Escalona, Marisol; Alcalá, Ana; Rosas, María Alejandra; Materán, Mercedes

    2007-05-01

    Hospital-based studies to determine the etiology of deaths from diarrhea are scarce. In this study, we specifically analyzed deaths due to rotavirus to assess the rotavirus impact on diarrhea mortality. To determine the rotavirus proportion contributing to mortality due to diarrhea, we analyzed data obtained from a hospital-based mortality surveillance, conducted over 7 years, in the Ciudad Hospitalaria Dr. Enrique Tejera, Valencia, Venezuela. Rotavirus was identified in stool samples collected from children who died of diarrhea, by a confirmatory ELISA and/or reverse transcription polymerase chain reaction. Our results show that rotavirus (21%; 21/100) is the leading cause of death due to diarrhea among children causes in this age group. Shigella spp. (19%; 13/69) was the second most important cause of death, followed by calicivirus (6%; 3/53). Furthermore, this study documents a seasonal pattern in the deaths due to rotavirus (odds ratio 3.28; 95% confidence interval 1.13-9.76). For Venezuela, it is estimated that approximately 300 children cause of death due to diarrhea, which supports previous estimations. This is the first study to present data of cause-specific mortality due to diarrhea based on hospital surveillance of diarrhea etiologies.

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