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5. Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disorders

Author

Abarca-Barriga, Hugo, Al-Haddad, Christiane, Berman, Jeffrey L., Bothun, Erick D., Capasso, Jenina, Chacon-Camacho, Oscar Francisco, Chang, Lan, Christiansen, Stephen P., Ciccarelli, Maria Laura, Cordonnier, Monique, Cox, Gerald F., Curry, Cynthia J., Dagi, Linda R., Lee Dahm, Thomas, David, Karen L., Davitt, Bradley V., De Berardinis, Teresa, Demer, Joseph L., Désir, Julie, D’Esposito, Fabiana, Drack, Arlene V., Eggenberger, Eric, Elder, James E., Elliott, Alexandra T., Epley, K. David, Feldman, Hagit Baris, Ferreira, Carlos R., Flaherty, Maree P., Fulton, Anne B., Gerth-Kahlert, Christina, Gottlob, Irene, Grill, Stephen, Halliday, Dorothy J., Hanisch, Frank, Hay, Eleanor, Heidary, Gena, Holder, Christopher, Horton, Jonathan C., Iannaccone, Alessandro, Isenberg, Sherwin J., Johnston, Suzanne C., Kahana, Alon, Katowitz, James A., Kazlas, Melanie, Kerr, Natalie C., Kimonis, Virginia, Ko, Melissa W., Koc, Feray, Larsen, Dorte Ancher, Lay-Son, Guillermo, Ledoux, Danielle M., Levin, Alex V., Levy, Richard L., Lyons, Christopher J., Mackey, David A., Magli, Adriano, Mantagos, Iason S., Marti, Candice, Maystadt, Isabelle, McKenzie, Fiona, Menezes, Manoj P., Mikail, Claudia N., Miller, David T., Miller, Kathryn Bisceglia, Mills, Monte D., Miyana, Kaori, Moller, H.U., Mullineaux, Lisa, Nishimura, Julie K., Noble, A. Gwendolyn, Pandey, Pramod Kumar, Pavone, Piero, Penzien, Johann, Petersen, Robert, Phalen, James A., Poduri, Annapurna, Polo, Claudia R., Prasov, Lev, Ramos, Feliciano J., Ramos-Caceres, Maria, Robb, Richard M., Rossillion, Béatrice, Sahin, Mustafa, Singer, Harvey S., Smith, Lois E.H., Sorkin, Jeffrey A., Soul, Janet S., Staffieri, Sandra E., Stalker, Heather J., Stasheff, Steven F., Strassberg, Sonya, Strominger, Mitchell B., Taranath, Deepa Ajay, Thomas, Ioan Talfryn, Traboulsi, Elias I., Ugrin, Maria Cristina, VanderVeen, Deborah K., Vincent, Andrea L., Vogel G, Marlene C., Wabbels, Bettina, Wong, Agnes M.F., Woods, C. Geoffrey, Wu, Carolyn, Yang, Edward, Yeung, Alison, Young, Terri L., Zenteno, Juan C., Zubcov-Iwantscheff, Alexandra A., Zwaan, Johan, Jurgens, Julie A., Barry, Brenda J., Chan, Wai-Man, MacKinnon, Sarah, Whitman, Mary C., Matos Ruiz, Paola M., Pratt, Brandon M., England, Eleina M., Pais, Lynn, Lemire, Gabrielle, Groopman, Emily, Glaze, Carmen, Russell, Kathryn A., Singer-Berk, Moriel, Di Gioia, Silvio Alessandro, Lee, Arthur S., Andrews, Caroline, Shaaban, Sherin, Wirth, Megan M., Bekele, Sarah, Toffoloni, Melissa, Bradford, Victoria R., Foster, Emma E., Berube, Lindsay, Rivera-Quiles, Cristina, Mensching, Fiona M., Sanchis-Juan, Alba, Fu, Jack M., Wong, Isaac, Zhao, Xuefang, Wilson, Michael W., Weisburd, Ben, Lek, Monkol, Brand, Harrison, Talkowski, Michael E., MacArthur, Daniel G., O’Donnell-Luria, Anne, Robson, Caroline D., Hunter, David G., and Engle, Elizabeth C.

Published
2024
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16. Mutations in RPGR and RP2 Account for 15% of Males with Simplex Retinal Degenerative DiseaseX-Linked Mutations in Simplex Males

Author

Branham, Kari, Othman, Mohammad, Brumm, Matthew, Karoukis, Athanasios J, Atmaca-Sonmez, Pelin, Yashar, Beverly M, Schwartz, Sharon B, Stover, Niamh B, Trzupek, Karmen, Wheaton, Dianna, Jennings, Barbara, Ciccarelli, Maria Laura, Jayasundera, K Thiran, Lewis, Richard A, Birch, David, Bennett, Jean, Sieving, Paul A, Andreasson, Sten, Duncan, Jacque L, Fishman, Gerald A, Iannaccone, Alessandro, Weleber, Richard G, Jacobson, Samuel G, Heckenlively, John R, and Swaroop, Anand

Subjects
Neurosciences, Rare Diseases, Clinical Research, Genetics, Neurodegenerative, Eye Disease and Disorders of Vision, Aetiology, 2.1 Biological and endogenous factors, Eye, DNA Mutational Analysis, Eye Proteins, Female, GTP-Binding Proteins, Genetic Diseases, X-Linked, Genetic Testing, Humans, Intracellular Signaling Peptides and Proteins, Male, Membrane Proteins, Mutation, Pedigree, Random Amplified Polymorphic DNA Technique, Registries, Retinitis Pigmentosa, Sex Distribution, Biological Sciences, Medical and Health Sciences, Ophthalmology & Optometry
Abstract

PurposeTo determine the proportion of male patients presenting simplex retinal degenerative disease (RD: retinitis pigmentosa [RP] or cone/cone-rod dystrophy [COD/CORD]) with mutations in the X-linked retinal degeneration genes RPGR and RP2.MethodsSimplex males were defined as patients with no known affected family members. Patients were excluded if they had a family history of parental consanguinity. Blood samples from a total of 214 simplex males with a diagnosis of retinal degeneration were collected for genetic analysis. The patients were screened for mutations in RPGR and RP2 by direct sequencing of PCR-amplified genomic DNA.ResultsWe identified pathogenic mutations in 32 of the 214 patients screened (15%). Of the 29 patients with a diagnosis of COD/CORD, four mutations were identified in the ORF15 mutational hotspot of the RPGR gene. Of the 185 RP patients, three patients had mutations in RP2 and 25 had RPGR mutations (including 12 in the ORF15 region).ConclusionsThis study represents mutation screening of RPGR and RP2 in the largest cohort, to date, of simplex males affected with RP or COD/CORD. Our results demonstrate a substantial contribution of RPGR mutations to retinal degenerations, and in particular, to simplex RP. Based on our findings, we suggest that RPGR should be considered as a first tier gene for screening isolated males with retinal degeneration.

Published
2012

26. The role of loneliness, negative affectivity, mentalization, and alcohol use in adolescent gambling

Author

Cosenza, Marina, Ciccarelli, Maria, Pizzini, Barbara, Griffiths, Mark David, Sacco, Mariagiulia, Nigro, Giovanna, Cosenza, Marina, Ciccarelli, Maria, Pizzini, Barbara, Griffiths, Mark D., Sacco, Mariagiulia, and Nigro, Giovanna

Subjects
Loneline, Mentalization, Emotional distre, Gambling, Adolescent gambling, Loneliness, Emotional distress
Abstract

Background: The causes and consequences of youth problem gambling have become an area of increasing research interest. The present study investigated the role of loneliness, negative affective states, mentalization, and alcohol use among adolescent gamblers, exploring the relationships between the study variables utilizing path analysis. Methods: A sample of 352 adolescents aged between 16-19 years were administered the (i) South Oaks Gambling Screen Revised for Adolescents, (ii) Loneliness and Aloneness Scale for Children and Adolescents, (iii) Depression Anxiety Stress Scales, (iv) Reflective Functioning Questionnaire, and (v) Alcohol Use Disorders Identification Test to assess gambling severity, loneliness, negative affectivity, mentalization, and alcohol consumption. Results: The regression analysis indicated that male gender, affinity for loneliness, hypomentalizing, and alcohol use significantly predicted adolescent gambling severity. Path analysis showed that stress contributed to gambling severity directly as well as indirectly (via hypomentalizing). Analysis of direct and indirect effects showed that unbalanced mentalizing strengthened the effect of stress on gambling severity. Conclusions: Given that adolescent problematic gambling is associated with high levels of stress and inability to reflect on the self, clinical interventions should enhance adolescent gamblers’ ability to process mental states content and to reduce emotional distress associated with gambling involvement., Mediterranean Journal of Clinical Psychology, Vol 10, No 3 (2022)

Published
2022

27. Attachment dimensions and adolescent gambling: The mediating role of mentalization

Author

Cosenza, Marina, Ciccarelli, Maria, Sacco, Mariagiulia, Nigro, Giovanna, Pizzini, Barbara, Cosenza, Marina, Ciccarelli, Maria, Sacco, Mariagiulia, Nigro, Giovanna, and Pizzini, Barbara

Subjects
Mentalization, Mediation analysi, Gambling, Adolescent gambling, Attachment dimensions, Mediation analysis, Clinical Psychology, Attachment dimension
Abstract

Background: Several studies demonstrated that insecure attachment style represents a risk factor for gambling behavior. The recent literature strongly argues that attachment could be better described as a dimensional construct, in as much as variations in attachment seem to exist on a graded continuum rather than in categories, better grasped by dimensional models. However, only a few studies have investigated the role of specific attachment dimensions in adolescent gambling. Moreover, even if the role of attachment style on mentalization abilities and their influence on gambling are well established, no studies have so far investigated how attachment dimensions and mentalization interact each other in influencing gambling behavior. The present study was aimed to clarify the role of specific dimensions of attachment in adolescent gambling and to explore, for the first time, the causal relationships between attachment, mentalization, and adolescent gambling. Methods: Four hundred and eighty-two adolescents aged 16-20 years were administered the South Oaks Gambling Screen Revised for Adolescents (SOGS-RA), the Attachment Style Questionnaire (ASQ), and the Reflective Functioning Questionnaire (RFQ-8). Results: The results of the hierarchical linear regression analysis showed that high scores on Uncertainty about mental states (RFQ-8) and Preoccupation with relationships (ASQ) were significant predictors of gambling severity. Moreover, mediational analysis revealed that the effect of Preoccupation with relationships on gambling severity was totally mediated by Uncertainty about mental states. Conclusion: The present study provided, for the first time, insight into the interrelationships between attachment dimensions, mentalization, and gambling severity, and suggested that preoccupation with relationships may be an important precursor to gambling and support the hypothesis that adolescents preoccupied with relationships have more severe gambling involvement due to poor mentalization abilities. Theoretical and clinical implications are discussed., Mediterranean Journal of Clinical Psychology, Vol 10, No 3 (2022)

Published
2022

29. Human CHN1 Mutations Hyperactivate α2-Chimaerin and Cause Duane's Retraction Syndrome

Author

Miyake, Noriko, Chilton, John, Psatha, Maria, Cheng, Long, Andrews, Caroline, Chan, Wai-Man, Law, Krystal, Crosier, Moira, Lindsay, Susan, Cheung, Michelle, Allen, James, Gutowski, Nick J., Ellard, Sian, Young, Elizabeth, Iannaccone, Alessandro, Appukuttan, Binoy, Stou, J. Timothy, Christiansen, Stephen, Ciccarelli, Maria Laura, Baldi, Altonso, Campioni, Mara, Zenteno, Juan C., Davenport, Dominic, Mariani, Laura E., Sahin, Mustafa, Guthrie, Sarah, and Engle, Elizabeth C.

Published
2008
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31. L'utilizzo dell'Esposizione con Prevenzione della Risposta in un campione di psicoterapeuti italiani.

Author

Raimo, Simona, Battimiello, Valentina, Biondi, Dalila, Ciccarelli, Maria, Colardo, Tania, Riemma, Dora, Schiano di Zenise, Loredana, Gragnani, Andrea, Scuotto, Adriana, and Cosentino, Teresa

Abstract

Copyright of Psicoterapia Cognitiva e Comportamentale is the property of Edizioni Centro Studi Erickson SpA and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Published
2022
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34. Human CHN1 mutations hyperactivate [alpha]2-chimaerin and cause Duane's retraction syndrome

Author

Miyake, Noriko, Chilton, John, Psatha, Maria, Cheng, Long, Andrews, Caroline, Chan, Wai-Man, Law, Krystal, Crosier, Moira, Lindsay, Susan, Cheung, Michelle, Allen, James, Gutowski, Nick J., Ellard, Sian, Young, Elizabeth, Iannaccone, Alessandro, Appukuttan, Binoy, Stout, J. Timothy, Christiansen, Stephen, Ciccarelli, Maria Laura, Baldi, Alfonso, Campioni, Mara, Zenteno, Juan C., Davenport, Dominic, Mariani, Laura E., Sahin, Mustafa, Guthrie, Sarah, and Engle, Elizabeth C.

Subjects
Gene mutations -- Influence, Eye -- Movement disorders, Eye -- Genetic aspects, Eye -- Risk factors
Published
2008

35. Gaming and gambling in adolescence: the role of personality, reflective functioning, time perspective and dissociation.

Author

Ciccarelli, Maria, Cosenza, Marina, Nigro, Giovanna, Griffiths, Mark, and D'Olimpio, Francesca

Subjects
GAMBLING behavior, COMPULSIVE gambling, GAMING disorder, TIME perspective, ADOLESCENCE, PERSONALITY, NOSOLOGY
Abstract

The 11th Revision of the International Classification of Diseases (ICD-11) formally recognized gaming disorder as an addictive health disorder like gambling disorder. The ICD-11 assumes that excessive online gaming can lead to functional/clinical impairments and psychological distress among a minority of individuals. The present study investigated similarities and commonalities between internet gaming disorder (IGD) and gambling disorder among adolescents (N = 366 students, 13–19 years). Participants completed the South Oaks Gambling Screen Revised for Adolescents (SOGS-RA), the Internet Gaming Disorder Scale-Short Form (IGDS9-SF), the Personality Inventory for DSM-5 Brief Form (PID-5-BF), the Reflective Functioning Questionnaire (RFQ-8), the Consideration of Future Consequences Scale (CFC-14), and the Adolescent Dissociative Experiences Scale (A-DES). Regression analyses showed that the significant predictors of (i) gambling severity were being male, high scores on the PID-5-BF Disinhibition and Antagonism domains, and low scores on RFQ-Certainty and CFC-Future subscales, and (ii) gaming severity were being male, high scores on the PID-5-BF Detachment scale and the A-DES, and low scores on the RFQ-Certainty. Risk factors shared by both disorders were male gender and impaired mentalization. Specific interventions on mentalization abilities may be useful in reducing and preventing problematic involvement in both gaming and gambling among adolescents. [ABSTRACT FROM AUTHOR]

Published
2022
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47. Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disorders

Author

Jurgens, Julie A., Barry, Brenda J., Chan, Wai-Man, MacKinnon, Sarah, Whitman, Mary C., Matos Ruiz, Paola M., Pratt, Brandon M., England, Eleina M., Pais, Lynn, Lemire, Gabrielle, Groopman, Emily, Glaze, Carmen, Russell, Kathryn A., Singer-Berk, Moriel, Di Gioia, Silvio Alessandro, Lee, Arthur S., Andrews, Caroline, Shaaban, Sherin, Wirth, Megan M., Bekele, Sarah, Toffoloni, Melissa, Bradford, Victoria R., Foster, Emma E., Berube, Lindsay, Rivera-Quiles, Cristina, Mensching, Fiona M., Sanchis-Juan, Alba, Fu, Jack M., Wong, Isaac, Zhao, Xuefang, Wilson, Michael W., Weisburd, Ben, Lek, Monkol, Abarca-Barriga, Hugo, Al-Haddad, Christiane, Berman, Jeffrey L., Bothun, Erick D., Capasso, Jenina, Chacon-Camacho, Oscar Francisco, Chang, Lan, Christiansen, Stephen P., Ciccarelli, Maria Laura, Cordonnier, Monique, Cox, Gerald F., Curry, Cynthia J., Dagi, Linda R., Lee Dahm, Thomas, David, Karen L., Davitt, Bradley V., De Berardinis, Teresa, Demer, Joseph L., Désir, Julie, D’Esposito, Fabiana, Drack, Arlene V., Eggenberger, Eric, Elder, James E., Elliott, Alexandra T., Epley, K. David, Feldman, Hagit Baris, Ferreira, Carlos R., Flaherty, Maree P., Fulton, Anne B., Gerth-Kahlert, Christina, Gottlob, Irene, Grill, Stephen, Halliday, Dorothy J., Hanisch, Frank, Hay, Eleanor, Heidary, Gena, Holder, Christopher, Horton, Jonathan C., Iannaccone, Alessandro, Isenberg, Sherwin J., Johnston, Suzanne C., Kahana, Alon, Katowitz, James A., Kazlas, Melanie, Kerr, Natalie C., Kimonis, Virginia, Ko, Melissa W., Koc, Feray, Larsen, Dorte Ancher, Lay-Son, Guillermo, Ledoux, Danielle M., Levin, Alex V., Levy, Richard L., Lyons, Christopher J., Mackey, David A., Magli, Adriano, Mantagos, Iason S., Marti, Candice, Maystadt, Isabelle, McKenzie, Fiona, Menezes, Manoj P., Mikail, Claudia N., Miller, David T., Miller, Kathryn Bisceglia, Mills, Monte D., Miyana, Kaori, Moller, H.U., Mullineaux, Lisa, Nishimura, Julie K., Noble, A. Gwendolyn, Pandey, Pramod Kumar, Pavone, Piero, Penzien, Johann, Petersen, Robert, Phalen, James A., Poduri, Annapurna, Polo, Claudia R., Prasov, Lev, Ramos, Feliciano J., Ramos-Caceres, Maria, Robb, Richard M., Rossillion, Béatrice, Sahin, Mustafa, Singer, Harvey S., Smith, Lois E.H., Sorkin, Jeffrey A., Soul, Janet S., Staffieri, Sandra E., Stalker, Heather J., Stasheff, Steven F., Strassberg, Sonya, Strominger, Mitchell B., Taranath, Deepa Ajay, Thomas, Ioan Talfryn, Traboulsi, Elias I., Ugrin, Maria Cristina, VanderVeen, Deborah K., Vincent, Andrea L., Vogel G, Marlene C., Wabbels, Bettina, Wong, Agnes M.F., Woods, C. Geoffrey, Wu, Carolyn, Yang, Edward, Yeung, Alison, Young, Terri L., Zenteno, Juan C., Zubcov-Iwantscheff, Alexandra A., Zwaan, Johan, Brand, Harrison, Talkowski, Michael E., MacArthur, Daniel G., O’Donnell-Luria, Anne, Robson, Caroline D., Hunter, David G., and Engle, Elizabeth C.

Abstract

To identify genetic etiologies and genotype/phenotype associations for unsolved ocular congenital cranial dysinnervation disorders (oCCDDs).

Published
2024
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50. High spontaneous osteoclastogenesis in pediatric osteogenesis imperfecta patients receiving or not intravenous neridronate

Author

Faienza, Maria Felicia, primary, Tummolo, Albina, additional, Piacente, Laura, additional, Fiaschetto, Rita, additional, Ciccarelli, Maria, additional, Ventura, Annamaria, additional, Papadia, Francesco, additional, Colucci, Silvia, additional, Grano, Maria, additional, Cavallo, Luciano, additional, and Brunetti, Giacomina, additional

Published
2014
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