Search

Your search keyword '"Pandya, Divya"' showing total 112 results
Start Over Author "Pandya, Divya"
112 results on '"Pandya, Divya"'

4. Defining the clinical validity of genes reported to cause pulmonary arterial hypertension

Author

Callejo, Emily P., Day, Kristina M., Macaya, Daniela, Maldonado-Velez, Gabriel, Archer, Stephen L., Auckland, Kathryn, Austin, Eric D., Badagliacca, Roberto, Barberà, Joan-Albert, Belge, Catharina, Bogaard, Harm Jan, Bonnet, Sébastien, Boomars, Karin A., Boucherat, Olivier, Chakinala, Murali M., Condliffe, Robin, Damico, Rachel Lynn, Delcroix, Marion, Desai, Ankit A., Doboszynska, Anna, Elliott, C. Greg, Eyries, Melanie, Escribano Subías, Maria Pilar, Gall, Henning, Ghio, Stefano, Ghofrani, Ardeschir-Hossein, Grünig, Ekkehard, Hamid, Rizwan, Harbaum, Lars, Hassoun, Paul M., Hemnes, Anna R., Hinderhofer, Katrin, Howard, Luke S., Humbert, Marc, Kiely, David G., Langleben, David, Lawrie, Allan, Loyd, Jim E., Moledina, Shahin, Montani, David, Morrell, Nichols W., Nichols, William C., Olschewski, Andrea, Olschewski, Horst, Papa, Silvia, Pauciulo, Mike W., Provencher, Steve, Quarck, Rozenn, Rhodes, Christopher J., Scelsi, Laura, Seeger, Werner, Stewart, Duncan J., Sweatt, Andrew, Swietlik, Emilia M., Treacy, Carmen, Trembath, Richard C., Tura-Ceide, Olga, Vizza, Carmine Dario, Vonk Noordegraaf, Anton, Wilkins, Martin R., Zamanian, Roham T., Zateyshchikov, Dmitry, Welch, Carrie L., Aldred, Micheala A., Balachandar, Srimmitha, Dooijes, Dennis, Eichstaedt, Christina A., Gräf, Stefan, Houweling, Arjan C., Machado, Rajiv D., Pandya, Divya, Prapa, Matina, Shaukat, Memoona, Southgate, Laura, Tenorio-Castano, Jair, and Chung, Wendy K.

Published
2023
Full Text
View/download PDF

5. Loss of SORCS2 is Associated with Neuronal DNA Double-Strand Breaks

Author

Gospodinova, Katerina O., Olsen, Ditte, Kaas, Mathias, Anderson, Susan M., Phillips, Jonathan, Walker, Rosie M., Bermingham, Mairead L., Payne, Abigail L., Giannopoulos, Panagiotis, Pandya, Divya, Spires-Jones, Tara L., Abbott, Catherine M., Porteous, David J., Glerup, Simon, and Evans, Kathryn L.

Published
2023
Full Text
View/download PDF

6. Author Correction: Biological heterogeneity in idiopathic pulmonary arterial hypertension identified through unsupervised transcriptomic profiling of whole blood

Author

Kariotis, Sokratis, Jammeh, Emmanuel, Swietlik, Emilia M., Pickworth, Josephine A., Rhodes, Christopher J., Otero, Pablo, Wharton, John, Iremonger, James, Dunning, Mark J., Pandya, Divya, Mascarenhas, Thomas S., Errington, Niamh, Thompson, A. A. Roger, Romanoski, Casey E., Rischard, Franz, Garcia, Joe G. N., Yuan, Jason X.-J., An, Tae-Hwi Schwantes, Desai, Ankit A., Coghlan, Gerry, Lordan, Jim, Corris, Paul A., Howard, Luke S., Condliffe, Robin, Kiely, David G., Church, Colin, Pepke-Zaba, Joanna, Toshner, Mark, Wort, Stephen, Gräf, Stefan, Morrell, Nicholas W., Wilkins, Martin R., Lawrie, Allan, and Wang, Dennis

Published
2022
Full Text
View/download PDF

7. Trace Elements In Health & Disease- A Boon In Disguise.

Author

Maitra, Arpita, Gayen, Swagata, Pandya, Divya, Banerjee, Anwesha, and Puttannavar, Rekha

Subjects
ORAL mucosa, NONMETALS, NUTRITIONAL status, STRESS management, HUMAN body, ORAL health, TRACE elements
Abstract

Research on the existence of various elements in the universe has been extensive, but their role in the human body is not fully understood. About 98% of the human body mass consists of nine non-metallic elements, categorized into abundant and non-abundant/trace elements. Micronutrients, including trace elements, vitamins, and antioxidants, play a vital role in regenerative processes, coping with oxidative stress, and providing immunity against pathogens. Dental health is also dependent on these nutrients, which help in the production and development of oral mucosa, teeth, and surrounding tissues. The recommended intake of these nutrients remains variable due to factors such as geography, altitude, age, weight, physiological needs, pathological backlogs, and other recognizable/unrecognizable factors. Essential trace elements are broadly categorized into macro-elements, micro-elements or trace elements, probably essential elements, and potentially toxic elements. The current review focuses on the role of essential trace elements in maintaining oral health and their implications in various oral diseases and disorders. [ABSTRACT FROM AUTHOR]

Published
2024

10. Biological heterogeneity in idiopathic pulmonary arterial hypertension identified through unsupervised transcriptomic profiling of whole blood

Author

Kariotis, Sokratis, Jammeh, Emmanuel, Swietlik, Emilia M., Pickworth, Josephine A., Rhodes, Christopher J., Otero, Pablo, Wharton, John, Iremonger, James, Dunning, Mark J., Pandya, Divya, Mascarenhas, Thomas S., Errington, Niamh, Thompson, A. A. Roger, Romanoski, Casey E., Rischard, Franz, Garcia, Joe G. N., Yuan, Jason X.-J., An, Tae-Hwi Schwantes, Desai, Ankit A., Coghlan, Gerry, Lordan, Jim, Corris, Paul A., Howard, Luke S., Condliffe, Robin, Kiely, David G., Church, Colin, Pepke-Zaba, Joanna, Toshner, Mark, Wort, Stephen, Gräf, Stefan, Morrell, Nicholas W., Wilkins, Martin R., Lawrie, Allan, and Wang, Dennis

Published
2021
Full Text
View/download PDF

14. Different Cytokine Patterns in BMPR2-Mutation-Positive Patients and Patients With Pulmonary Arterial Hypertension Without Mutations and Their Influence on Survival

Author

Schwiening, Max, Swietlik, Emilia M, Pandya, Divya, Burling, Keith, Barker, Peter, Feng, Oliver Y, Treacy, Carmen M, Abreu, Susana, Wort, S John, Pepke-Zaba, Joanna, Graf, Stefan, Marciniak, Stefan J, Morrell, Nicholas W, Soon, Elaine, Feng, Oliver [0000-0003-0039-7039], Marciniak, Stefan [0000-0001-8472-7183], Soon, Elaine [0000-0002-5744-5014], and Apollo - University of Cambridge Repository

Subjects
Pulmonary and Respiratory Medicine, Pulmonary Arterial Hypertension, Mutation, Cytokines, Humans, Familial Primary Pulmonary Hypertension, Bone Morphogenetic Protein Receptors, Type II, Cardiology and Cardiovascular Medicine, Critical Care and Intensive Care Medicine
Abstract

Pulmonary arterial hypertension (PAH) covers a range of life-limiting illnesses characterized by increased mean pulmonary arterial pressures, which if untreated, lead to right heart failure and death. This is due to remodeling of the small-to-medium sized pulmonary vessels, which obstruct blood flow. Pulmonary arterial hypertension can be further categorized into idiopathic PAH (without any identifiable cause, 6th World Symposium class 1.11) and heritable PAH , (defined by mutations in specific genes, 6th World Symposium class 1.21), the most common affecting bone morphogenetic protein receptor type II (BMPRII)2 3. It is known that BMPR2-mutation positive patients have worse cardiac indices at presentation and a worse overall outcome compared to PAH without mutations4. Possessing a BMPR2 mutation also creates a pro-inflammatory state, through loss of endothelial barrier function5 and loss of antioxidant capability6. This then begs the question as to whether the mutation-positive groups have different underlying pathogenetic mechanisms and require different biomarkers and treatments, analogous to how EGFR-mutation positive non-small cell lung cancer patients respond to tyrosine kinase inhibition while the majority of NSCLC patients do not.

Published
2022

18. A pilot study to examine association of BMI with functional class and six minute walk distance in idiopathic and heritable PAH : possible association with estrogen metabolism

Author

MacLean, Margaret R., Pandya, Divya, Swietlik, Emilia M., Denver, Nina, Mair, Kirsty, Morrell, Nicholas W., and Gräf, Stefan

Subjects
RA773
Abstract

The hypothesis that a relationship exists between body mass index (BMI), functional class, and 6 min walk distance (6MWD) in Group 1‐pulmonary arterial hypertension (PAH) was examined. Analysis of data from the UK National Cohort Study for heritable pulmonary arterial/idiopathic PAH suggests increased BMI is a predictor of worse functional class and shorter 6MWD; increased body‐weight in mice and man may be associated with increased estrogen metabolism.

Published
2022

21. Loss of SORCS2 is Associated with Neuronal DNA Double-Strand Breaks

Author

Gospodinova, Katerina O., primary, Olsen, Ditte, additional, Kaas, Mathias, additional, Anderson, Susan M., additional, Phillips, Jonathan, additional, Walker, Rosie M., additional, Bermingham, Mairead L., additional, Payne, Abigail L., additional, Giannopoulos, Panagiotis, additional, Pandya, Divya, additional, Spires-Jones, Tara L., additional, Abbott, Catherine M., additional, Porteous, David J., additional, Glerup, Simon, additional, and Evans, Kathryn L., additional

Published
2021
Full Text
View/download PDF

22. Rare variant analysis of 4241 pulmonary arterial hypertension cases from an international consortium implicates FBLN2, PDGFD, and rare de novo variants in PAH

Author

Zhu, Na, Swietlik, Emilia M., Welch, Carrie L., Pauciulo, Michael W., Hagen, Jacob J., Zhou, Xueya, Guo, Yicheng, Karten, Johannes, Pandya, Divya, Tilly, Tobias, Lutz, Katie A., Martin, Jennifer M., Treacy, Carmen M., Rosenzweig, Erika B., Krishnan, Usha, Coleman, Anna W., Gonzaga-Jauregui, Claudia, Lawrie, Allan, Trembath, Richard C., Wilkins, Martin R., Morrell, Nicholas W., Shen, Yufeng, Gräf, Stefan, Nichols, William C., Chung, Wendy K., Hirsch, Russel, White, R. James, Simon, Marc, Badesch, David, Rosenzweig, Erika, Burger, Charles, Chakinala, Murali, Thenappan, Thenappan, Elliott, Greg, Simms, Robert, Farber, Harrison, Frantz, Robert, Elwing, Jean, Hill, Nicholas, Ivy, Dunbar, Klinger, James, Nathan, Steven, Oudiz, Ronald, Robbins, Ivan, Schilz, Robert, Fortin, Terry, Wilt, Jeffrey, Yung, Delphine, Austin, Eric, Ahmad, Ferhaan, Bhatt, Nitin, Lahm, Tim, Frost, Adaani, Safdar, Zeenat, Rehman, Zia, Walter, Robert, Torres, Fernando, Bakshi, Sahil, Archer, Stephen, Argula, Rahul, Barnett, Christopher, Benza, Raymond, Desai, Ankit, Maddipati, Veeranna, Bogaard, Harm J., Church, Colin, Coghlin, Gerry, Condliffe, Robin, Eyries, Mélanie, Gall, Henning, Ghio, Stefano, Girerd, Barbara, Holden, Simon, Howard, Luke, Humbert, Marc, Kiely, David G., Kovacs, Gabor, Lordan, Jim, Machado, Rajiv D., MacKenzie Ross, Robert V., McCabe, Colm, Moledina, Shahin, Montani, David, Olschewski, Horst, Penkett, Christopher J., Pepke-Zaba, Joanna, Price, Laura, Rhodes, Christopher J., Seeger, Werner, Soubrier, Florent, Southgate, Laura, Suntharalingam, Jay, Swift, Andrew J., Toshner, Mark R., Noordegraaf, Anton Vonk, Wharton, John, Wild, Jim, Wort, Stephen John, and Apollo - University of Cambridge Repository

Subjects
Exome sequencing, Case-control association testing, Research, FOS: Biological sciences, Genetics, De novo variant analysis, Pulmonary arterial hypertension, Genome sequencing
Abstract

Background: Pulmonary arterial hypertension (PAH) is a lethal vasculopathy characterized by pathogenic remodeling of pulmonary arterioles leading to increased pulmonary pressures, right ventricular hypertrophy, and heart failure. PAH can be associated with other diseases (APAH: connective tissue diseases, congenital heart disease, and others) but often the etiology is idiopathic (IPAH). Mutations in bone morphogenetic protein receptor 2 (BMPR2) are the cause of most heritable cases but the vast majority of other cases are genetically undefined. Methods: To identify new risk genes, we utilized an international consortium of 4241 PAH cases with exome or genome sequencing data from the National Biological Sample and Data Repository for PAH, Columbia University Irving Medical Center, and the UK NIHR BioResource – Rare Diseases Study. The strength of this combined cohort is a doubling of the number of IPAH cases compared to either national cohort alone. We identified protein-coding variants and performed rare variant association analyses in unrelated participants of European ancestry, including 1647 IPAH cases and 18,819 controls. We also analyzed de novo variants in 124 pediatric trios enriched for IPAH and APAH-CHD. Results: Seven genes with rare deleterious variants were associated with IPAH with false discovery rate smaller than 0.1: three known genes (BMPR2, GDF2, and TBX4), two recently identified candidate genes (SOX17, KDR), and two new candidate genes (fibulin 2, FBLN2; platelet-derived growth factor D, PDGFD). The new genes were identified based solely on rare deleterious missense variants, a variant type that could not be adequately assessed in either cohort alone. The candidate genes exhibit expression patterns in lung and heart similar to that of known PAH risk genes, and most variants occur in conserved protein domains. For pediatric PAH, predicted deleterious de novo variants exhibited a significant burden compared to the background mutation rate (2.45×, p = 2.5e−5). At least eight novel pediatric candidate genes carrying de novo variants have plausible roles in lung/heart development. Conclusions: Rare variant analysis of a large international consortium identified two new candidate genes—FBLN2 and PDGFD. The new genes have known functions in vasculogenesis and remodeling. Trio analysis predicted that ~ 15% of pediatric IPAH may be explained by de novo variants.

Published
2021
Full Text
View/download PDF

23. Direct influence of BMPR2-mutations on cytokine patterns and biomarker effectiveness in pulmonary arterial hypertension.

Author

Schwiening, Max, primary, Swietlik, Emilia, additional, Pandya, Divya, additional, Burling, Keith, additional, Barker, Peter, additional, Treacy, Carmen, additional, Abreu, Susana, additional, Wort, John, additional, Pepke-Zaba, Joanna, additional, Graf, Stefan, additional, Marciniak, Stefan, additional, Morrell, Nicholas, additional, and Soon, Elaine, additional

Published
2021
Full Text
View/download PDF

24. Additional file 1 of Rare variant analysis of 4241 pulmonary arterial hypertension cases from an international consortium implicates FBLN2, PDGFD, and rare de novo variants in PAH

Author

Zhu, Na, Swietlik, Emilia M., Welch, Carrie L., Pauciulo, Michael W., Hagen, Jacob J., Xueya Zhou, Yicheng Guo, Karten, Johannes, Pandya, Divya, Tilly, Tobias, Lutz, Katie A., Martin, Jennifer M., Treacy, Carmen M., Rosenzweig, Erika B., Krishnan, Usha, Coleman, Anna W., Gonzaga-Juaregui, Claudia, Lawrie, Allan, Trembath, Richard C., Wilkins, Martin R., Morrell, Nicholas W., Yufeng Shen, Gräf, Stefan, Nichols, William C., and Chung, Wendy K.

Abstract

Additional file 1: Supplementary Figure 1. Selection of single-cell RNAseq data. Supplementary Figure 2. Gene-level burden test for rare synonymous variants. Supplementary Figure 3. Gene-based association analysis for all PAH subclasses. Supplementary Figure 4. Power analysis. Supplementary Figure 5. Depth of coding sequence coverage for FBLN2 and PDGFD. Supplementary Figure 6. Gene-based association analysis for APAH alone.

Published
2021
Full Text
View/download PDF

25. Additional file 2 of Rare variant analysis of 4241 pulmonary arterial hypertension cases from an international consortium implicates FBLN2, PDGFD, and rare de novo variants in PAH

Author

Zhu, Na, Swietlik, Emilia M., Welch, Carrie L., Pauciulo, Michael W., Hagen, Jacob J., Xueya Zhou, Yicheng Guo, Karten, Johannes, Pandya, Divya, Tilly, Tobias, Lutz, Katie A., Martin, Jennifer M., Treacy, Carmen M., Rosenzweig, Erika B., Krishnan, Usha, Coleman, Anna W., Gonzaga-Juaregui, Claudia, Lawrie, Allan, Trembath, Richard C., Wilkins, Martin R., Morrell, Nicholas W., Yufeng Shen, Gräf, Stefan, Nichols, William C., and Chung, Wendy K.

Abstract

Additional file 2: Supplementary Table 1. Clinical characteristics and hemodynamic parameters of child- vs adult-onset PAH cases. Supplementary Table 2. Similar frequency of rare synonymous variants among cases and controls. Supplementary Table 3. Rare predicted deleterious KDR missense variants. Supplementary Table 4. Haplotype analysis of PAH cases with recurrent variants in new candidate genes. Supplementary Table 5. Burden of de novo variants in pediatric-onset IPAH. Supplementary Table 6. Rare de novo risk variants identified in pediatric-onset PAH. Supplementary Table 7. Clinical characteristics of pediatric PAH cases with rare de novo variants.

Published
2021
Full Text
View/download PDF

26. 'There and Back Again'-Forward Genetics and Reverse Phenotyping in Pulmonary Arterial Hypertension

Author

Swietlik, Emilia M, Prapa, Matina, Martin, Jennifer M, Pandya, Divya, Auckland, Kathryn, Morrell, Nicholas W, Gräf, Stefan, Martin, Jennifer M [0000-0002-7697-7438], Auckland, Kathryn [0000-0002-7583-2886], Gräf, Stefan [0000-0002-1315-8873], and Apollo - University of Cambridge Repository

Subjects
Pulmonary Arterial Hypertension, forward phenotyping, intermediate phenotypes, Bone Morphogenetic Protein Receptors, Type II, forward genetics, phenotypic heterogeneity, genetic heterogeneity, reverse genetics, reverse phenotyping, Phenotype, whole-genome sequencing, Mutation, Animals, Humans, Genetic Predisposition to Disease, epigenetic inheritance
Abstract

Although the invention of right heart catheterisation in the 1950s enabled accurate clinical diagnosis of pulmonary arterial hypertension (PAH), it was not until 2000 when the landmark discovery of the causative role of bone morphogenetic protein receptor type II (BMPR2) mutations shed new light on the pathogenesis of PAH. Since then several genes have been discovered, which now account for around 25% of cases with the clinical diagnosis of idiopathic PAH. Despite the ongoing efforts, in the majority of patients the cause of the disease remains elusive, a phenomenon often referred to as "missing heritability". In this review, we discuss research approaches to uncover the genetic architecture of PAH starting with forward phenotyping, which in a research setting should focus on stable intermediate phenotypes, forward and reverse genetics, and finally reverse phenotyping. We then discuss potential sources of "missing heritability" and how functional genomics and multi-omics methods are employed to tackle this problem.

Published
2020

27. A pilot study to examine association of BMI with functional class and 6 min walk distance in idiopathic and heritable PAH: Possible association with estrogen metabolism.

Author

MacLean, Margaret R., Pandya, Divya, Swietlik, Emilia M., Denver, Nina, Mair, Kirsty, Morrell, Nicholas W., and Gräf, Stefan

Subjects
*ESTROGEN, *BODY mass index, *PILOT projects, *METABOLISM
Abstract

The hypothesis that a relationship exists between body mass index (BMI), functional class, and 6 min walk distance (6MWD) in Group 1‐pulmonary arterial hypertension (PAH) was examined. Analysis of data from the UK National Cohort Study for heritable pulmonary arterial/idiopathic PAH suggests increased BMI is a predictor of worse functional class and shorter 6MWD; increased body‐weight in mice and man may be associated with increased estrogen metabolism. [ABSTRACT FROM AUTHOR]

Published
2022
Full Text
View/download PDF

31. Bayesian Inference Associates Rare KDR Variants With Specific Phenotypes in Pulmonary Arterial Hypertension

Author

Swietlik, Emilia M., primary, Greene, Daniel, additional, Zhu, Na, additional, Megy, Karyn, additional, Cogliano, Marcella, additional, Rajaram, Smitha, additional, Pandya, Divya, additional, Tilly, Tobias, additional, Lutz, Katie A., additional, Welch, Carrie C.L., additional, Pauciulo, Michael W., additional, Southgate, Laura, additional, Martin, Jennifer M., additional, Treacy, Carmen M., additional, Penkett, Christopher J., additional, Stephens, Jonathan C., additional, Bogaard, Harm J., additional, Church, Colin, additional, Coghlan, Gerry, additional, Coleman, Anna W., additional, Condliffe, Robin, additional, Eichstaedt, Christina A., additional, Eyries, Mélanie, additional, Gall, Henning, additional, Ghio, Stefano, additional, Girerd, Barbara, additional, Grünig, Ekkehard, additional, Holden, Simon, additional, Howard, Luke, additional, Humbert, Marc, additional, Kiely, David G., additional, Kovacs, Gabor, additional, Lordan, Jim, additional, Machado, Rajiv D., additional, MacKenzie Ross, Robert V., additional, McCabe, Colm, additional, Moledina, Shahin, additional, Montani, David, additional, Olschewski, Horst, additional, Pepke-Zaba, Joanna, additional, Price, Laura, additional, Rhodes, Christopher J., additional, Seeger, Werner, additional, Soubrier, Florent, additional, Suntharalingam, Jay, additional, Toshner, Mark R., additional, Vonk Noordegraaf, Anton, additional, Wharton, John, additional, Wild, James M., additional, Wort, Stephen John, additional, Lawrie, Allan, additional, Wilkins, Martin R., additional, Trembath, Richard C., additional, Shen, Yufeng, additional, Chung, Wendy K., additional, Swift, Andrew J., additional, Nichols, William C., additional, Morrell, Nicholas W., additional, Gräf, Stefan, additional, Abbs, Stephen, additional, Abulhoul, Lara, additional, Adlard, Julian, additional, Ahmed, Munaza, additional, Aitman, Timothy J., additional, Alachkar, Hana, additional, Allsup, David J., additional, Ancliff, Philip, additional, Antrobus, Richard, additional, Armstrong, Ruth, additional, Arno, Gavin, additional, Ashford, Sofie, additional, Astle, William J., additional, Attwood, Anthony, additional, Aurora, Paul, additional, Babbs, Christian, additional, Bacchelli, Chiara, additional, Bakchoul, Tamam, additional, Banka, Siddharth, additional, Bariana, Tadbir, additional, Barwell, Julian, additional, Batista, Joana, additional, Baxendale, Helen E., additional, Beales, Phil L., additional, Bennett, David L., additional, Bierzynska, Agnieszka, additional, Biss, Tina, additional, Bitner-Glindzicz, Maria A.K., additional, Black, Graeme C., additional, Bleda, Marta, additional, Blesneac, Iulia, additional, Bockenhauer, Detlef, additional, Boyce, Sara, additional, Bradley, John R., additional, Breen, Gerome, additional, Brennan, Paul, additional, Brewer, Carole, additional, Brown, Matthew, additional, Browning, Andrew C., additional, Browning, Michael J., additional, Buchan, Rachel J., additional, Buckland, Matthew S., additional, Bueser, Teofila, additional, Diz, Carmen Bugarin, additional, Burn, John, additional, Burns, Siobhan O., additional, Burren, Oliver S., additional, Burrows, Nigel, additional, Campbell, Carolyn, additional, Carr-White, Gerald, additional, Carss, Keren, additional, Casey, Ruth, additional, Caulfield, Mark J., additional, Chambers, Jenny, additional, Chambers, John, additional, Chan, Melanie M.Y., additional, Cheng, Floria, additional, Chinnery, Patrick F., additional, Chitre, Manali, additional, Christian, Martin T., additional, Clayton-Smith, Jill, additional, Cleary, Maureen, additional, Brod, Naomi Clements, additional, Colby, Elizabeth, additional, Cole, Trevor R.P., additional, Collins, Janine, additional, Collins, Peter W., additional, Compton, Cecilia J., additional, Cook, H. Terence, additional, Cook, Stuart, additional, Cooper, Nichola, additional, Corris, Paul A., additional, Curry, Nicola S., additional, Daniels, Matthew J., additional, Dattani, Mehul, additional, Daugherty, Louise C., additional, Davis, John, additional, De Soyza, Anthony, additional, Deevi, Sri V.V., additional, Dent, Timothy, additional, Deshpande, Charu, additional, Dewhurst, Eleanor F., additional, Dixon, Peter H., additional, Douzgou, Sofia, additional, Downes, Kate, additional, Drazyk, Anna M., additional, Drewe, Elizabeth, additional, Duarte, Daniel, additional, Dutt, Tina, additional, Edgar, J. David M., additional, Edwards, Karen, additional, Egner, William, additional, Ekani, Melanie N., additional, Elliott, Perry, additional, Erber, Wendy N., additional, Erwood, Marie, additional, Estiu, Maria C., additional, Evans, Dafydd Gareth, additional, Evans, Gillian, additional, Everington, Tamara, additional, Fassihi, Hiva, additional, Favier, Remi, additional, Fletcher, Debra, additional, Flinter, Frances A., additional, Floto, R. Andres, additional, Fowler, Tom, additional, Fox, James, additional, Frary, Amy J., additional, French, Courtney E., additional, Freson, Kathleen, additional, Frontini, Mattia, additional, Furnell, Abigail, additional, Gale, Daniel P., additional, Ganesan, Vijeya, additional, Gattens, Michael, additional, Ghofrani, Hossein-Ardeschir, additional, Gibbs, J. Simon R., additional, Gibson, Kate, additional, Gilmour, Kimberly C., additional, Gleadall, Nicholas S., additional, Goddard, Sarah, additional, Gomez, Keith, additional, Gordins, Pavels, additional, Gosal, David, additional, Graham, Jodie, additional, Grassi, Luigi, additional, Greenhalgh, Lynn, additional, Greinacher, Andreas, additional, Gresele, Paolo, additional, Griffiths, Philip, additional, Grigoriadou, Sofia, additional, Grozeva, Detelina, additional, Gurnell, Mark, additional, Hackett, Scott, additional, Hadinnapola, Charaka, additional, Hague, Rosie, additional, Hague, William M., additional, Haimel, Matthias, additional, Hall, Matthew, additional, Hanson, Helen L., additional, Haque, Eshika, additional, Harkness, Kirsty, additional, Harper, Andrew R., additional, Harris, Claire L., additional, Hart, Daniel, additional, Hassan, Ahamad, additional, Hayman, Grant, additional, Henderson, Alex, additional, Herwadkar, Archana, additional, Hoffman, Jonathan, additional, Horvath, Rita, additional, Houlden, Henry, additional, Houweling, Arjan C., additional, Hu, Fengyuan, additional, Hudson, Gavin, additional, Huissoon, Aarnoud P., additional, Hurles, Matthew, additional, Irving, Melita, additional, Izatt, Louise, additional, James, Roger, additional, Johnson, Sally A., additional, Jolles, Stephen, additional, Jolley, Jennifer, additional, Josifova, Dragana, additional, Jurkute, Neringa, additional, Kasanicki, Mary A., additional, Kazkaz, Hanadi, additional, Kazmi, Rashid, additional, Kelleher, Peter, additional, Kelly, Anne M, additional, Kelsall, Wilf, additional, Kempster, Carly, additional, Kingston, Nathalie, additional, Koelling, Nils, additional, Kostadima, Myrto, additional, Koziell, Ania, additional, Kreuzhuber, Roman, additional, Kuijpers, Taco W., additional, Kumar, Ajith, additional, Kumararatne, Dinakantha, additional, Kurian, Manju A., additional, Laffan, Michael A., additional, Lalloo, Fiona, additional, Lambert, Michele, additional, Allen, Hana Lango, additional, Layton, D. Mark, additional, Lentaigne, Claire, additional, Lester, Tracy, additional, Levine, Adam P., additional, Linger, Rachel, additional, Longhurst, Hilary, additional, Lorenzo, Lorena E., additional, Louka, Eleni, additional, Lyons, Paul A., additional, Madan, Bella, additional, Maher, Eamonn R., additional, Maimaris, Jesmeen, additional, Malka, Samantha, additional, Mangles, Sarah, additional, Mapeta, Rutendo, additional, Marchbank, Kevin J., additional, Marks, Stephen, additional, Markus, Hugh S., additional, Marschall, Hanns-Ulrich, additional, Marshall, Andrew, additional, Mathias, Mary, additional, Matthews, Emma, additional, Maxwell, Heather, additional, McAlinden, Paul, additional, McCarthy, Mark I., additional, McKinney, Harriet, additional, Meacham, Stuart, additional, Mead, Adam J., additional, Mehta, Sarju G., additional, Michaelides, Michel, additional, Millar, Carolyn, additional, Mohammed, Shehla N., additional, Moore, Anthony T., additional, Mozere, Monika, additional, Muir, Keith W., additional, Mumford, Andrew D., additional, Nemeth, Andrea H., additional, Newman, William G., additional, Newnham, Michael, additional, Noorani, Sadia, additional, Nurden, Paquita, additional, O’Sullivan, Jennifer, additional, Obaji, Samya, additional, Odhams, Chris, additional, Okoli, Steven, additional, Olschewski, Andrea, additional, Ong, Kai Ren, additional, Oram, S. Helen, additional, Ormondroyd, Elizabeth, additional, Ouwehand, Willem H., additional, Palles, Claire, additional, Papadia, Sofia, additional, Park, Soo-Mi, additional, Parry, David, additional, Patel, Smita, additional, Paterson, Joan, additional, Peacock, Andrew, additional, Pearce, Simon H., additional, Peerlinck, Kathelijne, additional, Petersen, Romina, additional, Pilkington, Clarissa, additional, Poole, Kenneth E.S., additional, Psaila, Bethan, additional, Pyle, Angela, additional, Quinton, Richard, additional, Rahman, Shamima, additional, Rao, Anupama, additional, Raymond, F. Lucy, additional, Rayner-Matthews, Paula J., additional, Rendon, Augusto, additional, Renton, Tara, additional, Rice, Andrew S.C., additional, Richter, Alex, additional, Robert, Leema, additional, Roberts, Irene, additional, Rose, Sarah J., additional, Ross-Russell, Robert, additional, Roughley, Catherine, additional, Roy, Noemi B.A., additional, Ruddy, Deborah M., additional, Sadeghi-Alavijeh, Omid, additional, Saleem, Moin A., additional, Samani, Nilesh, additional, Samarghitean, Crina, additional, Sanchis-Juan, Alba, additional, Sargur, Ravishankar B., additional, Sarkany, Robert N., additional, Satchell, Simon, additional, Savic, Sinisa, additional, Sayer, Genevieve, additional, Sayer, John A., additional, Scelsi, Laura, additional, Schaefer, Andrew M., additional, Schulman, Sol, additional, Scott, Richard, additional, Scully, Marie, additional, Searle, Claire, additional, Sen, Arjune, additional, Sewell, W.A. Carrock, additional, Seyres, Denis, additional, Shah, Neil, additional, Shamardina, Olga, additional, Shapiro, Susan E., additional, Shaw, Adam C., additional, Sibson, Keith, additional, Side, Lucy, additional, Simeoni, Ilenia, additional, Simpson, Michael A., additional, Sims, Matthew C., additional, Sivapalaratnam, Suthesh, additional, Smedley, Damian, additional, Smith, Katherine R., additional, Smith, Kenneth G.C., additional, Snape, Katie, additional, Soranzo, Nicole, additional, Spasic-Boskovic, Olivera, additional, Staines, Simon, additional, Staples, Emily, additional, Stark, Hannah, additional, Stirrups, Kathleen E., additional, Stuckey, Alex, additional, Syrris, Petros, additional, Tait, R. Campbell, additional, Talks, Kate, additional, Tan, Rhea Y.Y., additional, Taylor, Jenny C., additional, Taylor, John M., additional, Thaventhiran, James E., additional, Themistocleous, Andreas C., additional, Thomas, David, additional, Thomas, Ellen, additional, Thomas, Moira J., additional, Thomas, Patrick, additional, Thomson, Kate, additional, Thrasher, Adrian J., additional, Thys, Chantal, additional, Tischkowitz, Marc, additional, Titterton, Catherine, additional, Toh, Cheng-Hock, additional, Tomlinson, Ian P., additional, Traylor, Matthew, additional, Treadaway, Paul, additional, Tuna, Salih, additional, Turro, Ernest, additional, Twiss, Philip, additional, Vale, Tom, additional, Van Geet, Chris, additional, van Zuydam, Natalie, additional, Vandersteen, Anthony M, additional, Vazquez-Lopez, Marta, additional, von Ziegenweidt, Julie, additional, Wagner, Annette, additional, Waisfisz, Quinten, additional, Walker, Neil, additional, Walker, Suellen M., additional, Ware, James S., additional, Watkins, Hugh, additional, Watt, Christopher, additional, Webster, Andrew R., additional, Wedderburn, Lucy, additional, Wei, Wei, additional, Welch, Steven B., additional, Wessels, Julie, additional, Westbury, Sarah K., additional, Westwood, John-Paul, additional, Whitehorn, Deborah, additional, Whitworth, James, additional, Wilkie, Andrew O.M., additional, Williamson, Catherine, additional, Wilson, Brian T., additional, Wong, Edwin K.S., additional, Wood, Nicholas, additional, Wood, Yvette, additional, Woods, Christopher Geoffrey, additional, Woodward, Emma R., additional, Worth, Austen, additional, Wright, Michael, additional, Yates, Katherine, additional, Yong, Patrick F.K., additional, Young, Timothy, additional, Yu, Ping, additional, Yu-Wai-Man, Patrick, additional, Zlamalova, Eliska, additional, Hirsch, Russel, additional, White, R. James, additional, Simon, Marc, additional, Badesch, David, additional, Rosenzweig, Erika, additional, Burger, Charles, additional, Chakinala, Murali, additional, Thenappan, Thenappan, additional, Elliott, Greg, additional, Simms, Robert, additional, Farber, Harrison, additional, Frantz, Robert, additional, Elwing, Jean, additional, Hill, Nicholas, additional, Ivy, Dunbar, additional, Klinger, James, additional, Nathan, Steven, additional, Oudiz, Ronald, additional, Robbins, Ivan, additional, Schilz, Robert, additional, Fortin, Terry, additional, Wilt, Jeffrey, additional, Yung, Delphine, additional, Austin, Eric, additional, Ahmad, Ferhaan, additional, Bhatt, Nitin, additional, Lahm, Tim, additional, Frost, Adaani, additional, Safdar, Zeenat, additional, Rehman, Zia, additional, Walter, Robert, additional, Torres, Fernando, additional, Bakshi, Sahil, additional, Archer, Stephen, additional, Argula, Rahul, additional, Barnett, Christopher, additional, Benza, Raymond, additional, Desai, Ankit, additional, and Maddipati, Veeranna, additional

Published
2021
Full Text
View/download PDF

32. Reduced transfer coefficient of carbon monoxide in pulmonary arterial hypertension implicates rare protein-truncating variants in KDR

Author

Swietlik, Emilia M., Greene, Daniel, Zhu, Na, Megy, Karyn, Cogliano, Marcella, Rajaram, Smitha, Pandya, Divya, Tilly, Tobias, Lutz, Katie A., Welch, Carrie C. L., Pauciulo, Michael W., Southgate, Laura, Martin, Jennifer M., Treacy, Carmen M., Bogaard, Harm J., Church, Colin, Coghlan, Gerry, Coleman, Anna W., Condliffe, Robin, Eyries, Mélanie, Gall, Henning, Ghio, Stefano, Girerd, Barbara, Holden, Simon, Howard, Luke, Humbert, Marc, Kiely, David G., Kovacs, Gabor, Lordan, Jim, Machado, Rajiv D., MacKenzie Ross, Robert V., Moledina, Shahin, Montani, David, Olschewski, Horst, Pepke-Zaba, Joanna, Rhodes, Christopher J., Seeger, Werner, Soubrier, Florent, Suntharalingam, Jay, Toshner, Mark R., Noordegraaf, Anton Vonk, Wharton, John, Wild, Jim, Wort, Stephen John, Lawrie, Allan, Wilkins, Martin R., Trembath, Richard C., Shen, Yufeng, Chung, Wendy K., Swift, Andrew J., Nichols, William C., Morrell, Nicholas W., and Gräf, Stefan

Abstract

Background To date, approximately 25% of patients with pulmonary arterial hypertension (PAH) have been found to harbour rare mutations in disease-causing genes. Given the small number of patients affected by mutations in most PAH genes, the identification of the missing heritability in PAH is challenging. We hypothesised that integrating deep phenotyping data with whole-genome sequencing data will reveal additional disease variants that are extremely rare and/or have a unique phenotypic signature. Methods We analysed whole-genome sequencing data from 13,037 participants enrolled in the NIHR BioResource - Rare Diseases (NIHRBR-RD) study, of which 1148 were recruited to the PAH domain. To test for genetic associations between genes and selected phenotypes of pulmonary hypertension (PH), we used the Bayesian rare-variant association method BeviMed. We defined the groups for comparison by assigning labels (‘tags’) inferred from the current diagnostic classification of PAH, stratification by age at diagnosis and transfer coefficient of carbon monoxide (KCO). Results Protein truncating variants (PTV) in KDR were strongly associated with the lower KCO tertile (posterior probability (PP)=0.989) and the higher age tertile (PP=0.912) groups. On computed tomographic imaging of the lungs, a range of parenchymal abnormalities were observed in the patients harbouring PTV in KDR . KCO stratification also highlighted an association between Isocitrate Dehydrogenase (NAD(+)) 3 Non-Catalytic Subunit Gamma ( IDH3G ) and moderately reduced KCO in patients with pulmonary hypertension (PP=0.920). The US PAH Biobank was used to independently validate these findings and identified four additional PAH cases with PTV in KDR and two in IDH3G . We confirmed associations between previously established genes and PAH. Conclusions PTVs in KDR , the gene encoding vascular endothelial growth factor receptor 2 (VEGFR2), are significantly associated with two specific phenotypes of PAH, reduced KCO and later age of onset, highlighting a role for VEGF signalling in the pathogenesis of human PAH. We also report IDH3G as a new PAH risk gene. Moreover, we demonstrate that the use of deep clinical phenotyping data advances the identification of novel causative rare variants.

Published
2019
Full Text
View/download PDF

34. Determination of the Prevalence of Oral Potentially Malignant Disorders among Tobacco users in a Subset of Kolkata Population.

Author

Pandya, Divya, Banerjee, Anwesha, Dutta, Kaushik, Maitra, Arpita, Biswas, Anwesha, Puttannavar, Rekha, Mukherji, Ishan, and Chatterjee, Raj Shekhar

Subjects
*TOBACCO use, *SMOKELESS tobacco, *TOBACCO, *CALCIUM hydroxide, *SMOKING, *ORAL habits, *ORAL manifestations of general diseases
Abstract

Introduction: Tobacco consumption is one of the most serious public health threats globally and is emerging as pandemic. Data from World Health Organisation proves that about 5 million people die prematurely per year around the globe due to tobacco use with India being a leading nation among tobacco users. Aim: To evaluate the most prevalent tobacco habit and the oral Potentially Malignant Disorders (PMDs) among the tobacco users and assessment of prevalence rate of awareness and change in various habits in relation to similar studies conducted in past in Eastern zone. Materials and Methods: A cross-sectional study was conducted over a period of six months, wherein all the patients visiting the OPD were assessed and questioned for Tobacco related habits. A detailed history about the duration and frequency of the habit and the type of tobacco and the predominant reason for its consumption among males and females were recorded and evaluated for the evidence of PMDs. Patients below the age of 13 years and with systemic/metabolic disorder with oral manifestations were excluded from the study. Results: The results of the study revealed that the tobacco consumption was more prevalent in males than in females. Most prevalent tobacco habit was chewing tobacco with slaked lime followed by smoking then mixed tobacco. Most common age group affected was 20-50 years and tobacco pouch keratosis were most prevalent lesion followed by leukoplakia. Conclusion: This study imparted us the particulars of association of Oral PMDs in different kinds of tobacco users thus reducing the chances of morbidity and mortality associated with them due to their asymptomatic or mildly symptomatic nature which remains unnoticed till advanced stages due to relative lack of awareness about the harmful effects of tobacco usage even in current times of social media, thus guiding physicians to provide better patient care at an early stage. [ABSTRACT FROM AUTHOR]

Published
2024

35. Determination of Gender and Age by Analysis of Mental Foramen using CBCT in a Subset of Population in Kolkata: A Cross-Sectional Retrospective Study.

Author

Banerjee, Anwesha, Dutta, Kaushik, Maitra, Arpita, Puttannavar, Rekha, Pandya, Divya, Biswas, Anwesha, and Ghosh, Soumitra

Subjects
MENTAL foramen, CONE beam computed tomography, MENTAL age, HUMAN body
Abstract

Introduction: Out of all the morphological landmarks on the human body, the mental foramen is thought to be one of the most reliable for determining age and gender. It has therefore been utilised in the current investigation to assess age and gender because of its durability. Aim: To determine sexual dimorphism and to estimate the age in a subset of population in Kolkata, West Bengal by analysing the mental foramen using Cone Beam Computed Tomography (CBCT). Materials and Methods: A cross-sectional retrospective study was conducted using CBCT of 70 subjects, of which 50 were included in the study as per the inclusion and exclusion criteria. The patient's OPD registration number, gender, date of birth was kept confidential, and a unique study case number was allotted. The required measurements in the CBCT scans, were done on these following parameters in both right and left side: 1. superior border of crest of mandible to superior border of mental foramen (SBMSBMF), 2. superior border of crest of mandible to inferior border of mandible (SBM-IBMF), 3. superior border of mental foramen to inferior border of mandible (SBMF-IBM), 4. inferior border of mental foramen to inferior border of mandible (IBMF-IBM), 5. superior border of mental foramen to inferior border of mental foramen. The information gathered was entered into a Microsoft Office Excel sheet, from which it was extracted to produce the desired outcomes using Stata version 13.1 and SPSS version 20 for Windows software (SPSS Inc., Chicago, IL, USA). Results: The study's findings indicate that there is bilateral dimorphism in the (UM-IM) and (LM-IM) distances for both genders, making it a useful tool for distinguishing gender. Regarding age estimation, the research demonstrates substantial values for each of the four criteria. There were also bilateral differences noted. There is a substantial correlation between the estimated and original ages, according to the age regression model. Conclusion: The mental foramen, a stable landmark in the mandible, is a useful tool for determining gender and age. As a result, using particular Mental Foramen measurements, one can determine the age of an individual. Additionally, pre-prosthetic surgery, implant placement, and orthognathic treatments use its location and distance from the alveolar crest as a guidance. [ABSTRACT FROM AUTHOR]

Published
2024

36. Assessment and Correlation of Serum Folate and Iron Levels in Clinically Diagnosed Oral Leukoplakia against those without Oral Leukoplakia in Bengaluru and Kolkata Patients.

Author

Maitra, Arpita, Pal, Mousumi, Dutta, Kaushik, Pandya, Divya, Puttannavar, Rekha, Das, Sanjeet, Banerjee, Anwesha, and Paul, R. R.

Subjects
ORAL leukoplakia, IRON in the body, ORAL submucous fibrosis, BETEL nut, ORAL diseases, ORAL habits
Abstract

Introduction: Potentially malignant oral mucosal diseases such as oral leukoplakia, oral Erythroplakia and oral submucous fibrosis have a high malignant transformation rate with tobacco, alcohol, chewing of betel quid containing areca nut being etiological agents. Early identification, diagnosis and treatment hinder 'progression of the disease to severe dysplasia and even carcinoma in-situ and/or squamous cell carcinoma. Therefore, early intervention is highly advocated to attain favourable prognosis as well as treatment outcome. Aim: To assess, compare and correlate the levels of serum folate and iron in patients with/without any visible Oral leukoplakia. Materials and Methods: A total of 136 patients (34 Oral leukoplakia patients with habit(s) 34 patients without leukoplakia with habit(s) in Bengaluru and 34 Oral leukoplakia patients with habit(s) and 34 patients without leukoplakia with habit(s) in Kolkata. Serum folate was measured by chemi-luminescent immunoassay and serum iron concentration was measured by photometric method. Results: There was a definite male predilection with majority of the subjects found in the age group of 20-30 years. The mean folate levels in BOL (34 Individuals with oral leukoplakia and habits in Bangalore), BWOL (34 Individuals without leukoplakia but with habits in Bangalore), KOL (34 Individuals with oral leukoplakia and habits in Kolkata), KWOL (34 Individuals without leukoplakia but with habits in Kolkata) was found to be 5.20, 5.3, 6.4 and 5.6 respectively, whereas the mean iron levels were 91.20, 105.73, 102.12 and 114.53 respectively, which was statistically insignificant. Conclusion: The mean serum folate and iron levels were found to be high in the Kolkata population in comparison to that of the Bengaluru population. A clear decline in the serum iron and folate levels in patients with clinically diagnosed leukoplakia amongst smokers as well as in tobacco chewers was recorded; however, the folate levels were found to increase amongst smokers. [ABSTRACT FROM AUTHOR]

Published
2024

37. Knowledge, Attitude, and Awareness among Non Dental and Non Medical University Students in Kolkata about the Effects of Smoking on Oral Health: A Questionnaire Based Study.

Author

Puttannavar, Rekha, Dutta, Kaushik, Biswas, Anwesha, Maitra, Arpita, Pandya, Divya, Banerjee, Anwesha, Sen Roy, Santanu, and Mukherjee, Mekhala

Subjects
ADOLESCENT smoking, DRUG abuse, ANTI-smoking campaigns, SMOKING, ORAL health, TOBACCO use, SMOKING cessation
Abstract

Introduction: Introduction: Smoking is one of the common recreational drug uses. Tobacco smoking habit has spread across the world, and is a significant cause of mortality and morbidity. Smokers are more likely to develop many deadly diseases such as cancer and other types of respiratory diseases. Tobacco smokingrelated diseases have been shown to kill around half of long-term smokers compared with the overall mortality levels faced by nonsmokers. Aim: To investigate and assess the knowledge, attitude and awareness of the effects of smoking on oral health among non dental and non Medical University students in Kolkata Materials and Methods: A cross-sectional study was conducted by circulating the self-designed questionnaire among 150 college students. The questionnaire was designed to assess the data's on demographics, smoking prevalence, smoking related knowledge and attitudes and health effects due to smoking habits. The survey was conducted through an online setting through google form. Results: The responses from the study were analysed and represented in pie charts. The findings were 85% of individuals are aware of the complications of smoking. Around10% of individuals felt that the habit of smoking is greatly influenced by friends and stress. 87% of individuals felt that smoking in public places is an offence. 81% of individuals strongly impose smoking Cessation Campaigns at their Institutions Conclusion: The study concludes that students are well aware about smoking habits and its ill effects which cause major complications in their health. In addition, collaborative and more comprehensive anti-tobacco efforts are important to curb the tobacco epidemic. [ABSTRACT FROM AUTHOR]

Published
2024

38. New rare variant associations with distinct phenotypes in patients with pulmonary arterial hypertension revealed with Bayesian inference

Author

Świetlik, Emilia, primary, Lutz, Katie A, additional, Greene, Daniel, additional, Pauciulo, Michael W, additional, Tilly, Tobias, additional, Pandya, Divya, additional, Zhu, Na, additional, Cogliano, Marcella, additional, Welch, Carrie L, additional, Coleman, Anna W, additional, Bioresource Rare Diseases Consortium, N.I.H.R, additional, Shen, Yufeng, additional, Swift, Andrew, additional, Chung, Wendy, additional, Nichols, William C, additional, Morrell, Nick W, additional, and Graf, Stefan, additional

Published
2020
Full Text
View/download PDF

41. Aggressive nasopalatine duct cyst with nasal involvement

Author

Pandya, Divya, Dey, Soumadip, Bhattacharya, Maumita, Singh, Pooja, Pandya, Divya, Dey, Soumadip, Bhattacharya, Maumita, and Singh, Pooja

Abstract

Nasopalatine duct cyst is a non-odontogenicdevelopmental cyst typically located in the maxillary midline between the tooth roots of central incisors, these cysts are infrequent and can often be misdiagnosed as periapical lesion or cyst. In this article, we present a case of which was clinically and radiographicallyprovisionally diagnosed as nasopalatine duct cyst in a 62 year old male patient with complaint of swelling in midline of palate. The lesion was surgically removed, and histopathologically confirmed the provisional diagnosis, thus concluding that it can be a diagnostic dilemma in clinical and radiological examinations.

Published
2018

42. "Two third tumor": A case report and its differential diagnosis.

Author

Chakraborty, Rakashree, Sen, Sourav, Goyal, Kriti, and Pandya, Divya

Subjects
ODONTOGENIC cysts, AMELOBLASTOMA, ODONTOGENIC tumors, DENTIGEROUS cyst, DIFFERENTIAL diagnosis, TUMORS, THERAPEUTICS
Abstract

Adenamatoid odontogenic tumor (AOT) is an odontogenic tumor with a prevalence of 2.2–7.1%. AOT is a benign, noninvasive, and progressive lesion which is also known as "a two third tumor." As the name suggests the tumor occurs in the maxilla in two third of cases. It occurs in young patients in two third of cases and associated with missing or unerupted teeth in two third of cases. Two third cases are associated with the maxillary canine. Characterized by slow growing, gradually enlarging, painless swelling associated with missing teeth. We report a case of a male patient of age 22 years, with characteristic findings. AOT resembles different odontogenic cysts and tumors which may include dentigerous cyst, globulomaxillary cyst, ameloblastoma, and other entities, hence must be well differentiated. Conservative surgical enucleation is the treatment of choice. Recurrence rate for AOT is 0.2%. Prognosis is excellent when completely removed in toto. [ABSTRACT FROM AUTHOR]

Published
2019
Full Text
View/download PDF

43. Defining the clinical validity of genes reported to cause pulmonary arterial hypertension

Author

Welch, Carrie L., Aldred, Micheala A., Balachandar, Srimmitha, Dooijes, Dennis, Eichstaedt, Christina A., Gräf, Stefan, Houweling, Arjan C., Machado, Rajiv D., Pandya, Divya, Prapa, Matina, Shaukat, Memoona, Southgate, Laura, Tenorio-Castano, Jair, Callejo, Emily P., Day, Kristina M., Macaya, Daniela, Maldonado-Velez, Gabriel, Chung, Wendy K., Archer, Stephen L., Auckland, Kathryn, Austin, Eric D., Badagliacca, Roberto, Barberà, Joan-Albert, Belge, Catharina, Bogaard, Harm Jan, Bonnet, Sébastien, Boomars, Karin A., Boucherat, Olivier, Chakinala, Murali M., Condliffe, Robin, Damico, Rachel Lynn, Delcroix, Marion, Desai, Ankit A., Doboszynska, Anna, Elliott, C. Greg, Eyries, Melanie, Escribano Subías, Maria Pilar, Gall, Henning, Ghio, Stefano, Ghofrani, Ardeschir-Hossein, Grünig, Ekkehard, Hamid, Rizwan, Harbaum, Lars, Hassoun, Paul M., Hemnes, Anna R., Hinderhofer, Katrin, Howard, Luke S., Humbert, Marc, Kiely, David G., Langleben, David, Lawrie, Allan, Loyd, Jim E., Moledina, Shahin, Montani, David, Morrell, Nichols W., Nichols, William C., Olschewski, Andrea, Olschewski, Horst, Papa, Silvia, Pauciulo, Mike W., Provencher, Steve, Quarck, Rozenn, Rhodes, Christopher J., Scelsi, Laura, Seeger, Werner, Stewart, Duncan J., Sweatt, Andrew, Swietlik, Emilia M., Treacy, Carmen, Trembath, Richard C., Tura-Ceide, Olga, Vizza, Carmine Dario, Noordegraaf, Anton Vonk, Wilkins, Martin R., Zamanian, Roham T., and Zateyshchikov, Dmitry

Abstract

Pulmonary arterial hypertension (PAH) is a rare, progressive vasculopathy with significant cardiopulmonary morbidity and mortality. Genetic testing is currently recommended for adults diagnosed with heritable, idiopathic, anorexigen-, hereditary hemorrhagic telangiectasia–, and congenital heart disease–associated PAH, PAH with overt features of venous/capillary involvement, and all children diagnosed with PAH. Variants in at least 27 genes have putative evidence for PAH causality. Rigorous assessment of the evidence is needed to inform genetic testing.

Published
2023
Full Text
View/download PDF

44. A rare case report on atypical odontalgia with psychological implications

Author

Pandya, Divya, Kumar Nagarajappa, Anil, Pandya, Divya, and Kumar Nagarajappa, Anil

Abstract

Psychosomatic or somatoform disorders are among the most common psychiatric disorders found in general practice. A psychosomatic disorder involves both body and mind. These diseases have physical symptoms originating from mental or emotional causes. Most common ones are stress, anxiety and depression. A wide spectrum of psychiatric disorders may influence the orofacial region, where unfortunately they remain unrecognized due to limited nature of their presenting features. We here present a case report of atypical odontalgia in an elderly male secondary to underlying psychological distress.

Published
2016

Catalog

Books, media, physical & digital resources
See catalog results