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2. GM1 gangliosidosis type II: Results of a 10-year prospective study

Author

D’Souza, Precilla, Farmer, Cristan, Johnston, Jean M., Han, Sangwoo T., Adams, David, Hartman, Adam L., Zein, Wadih, Huryn, Laryssa A., Solomon, Beth, King, Kelly, Jordan, Christopher P., Myles, Jennifer, Nicoli, Elena-Raluca, Rothermel, Caroline E., Mojica Algarin, Yoliann, Huang, Reyna, Quimby, Rachel, Zainab, Mosufa, Bowden, Sarah, Crowell, Anna, Buckley, Ashura, Brewer, Carmen, Regier, Debra S., Brooks, Brian P., Acosta, Maria T., Baker, Eva H., Vézina, Gilbert, Thurm, Audrey, and Tifft, Cynthia J.

Published
2024
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5. Glb1 knockout mouse model shares natural history with type II GM1 gangliosidosis patients

Author

Nicoli, Elena-Raluca, Huebecker, Mylene, Han, Sangwoo T., Garcia, Karolyn, Munasinghe, Jeeva, Lizak, Martin, Latour, Yvonne, Yoon, Robin, Glase, Brianna, Tyrlik, Michal, Peiravi, Morteza, Springer, Danielle, Baker, Eva H., Priestman, David, Sidhu, Rohini, Kell, Pamela, Jiang, Xuntian, Kolstad, Josephine, Kuhn, Anna Luisa, Shazeeb, Mohammed Salman, Acosta, Maria T., Proia, Richard L., Platt, Frances M., and Tifft, Cynthia J.

Published
2023
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6. Lysosomal Storage and Albinism Due to Effects of a De Novo CLCN7 Variant on Lysosomal Acidification.

Author

Nicoli, Elena-Raluca, Weston, Mary, Hackbarth, Mary, Becerril, Alissa, Larson, Austin, Zein, Wadih, Baker, Peter, Burke, John, Dorward, Heidi, Davids, Mariska, Huang, Yan, Adams, David, Zerfas, Patricia, Chen, Dong, Markello, Thomas, Toro, Camilo, Wood, Tim, Elliott, Gene, Vu, Mylinh, Zheng, Wei, Garrett, Lisa, Tifft, Cynthia, Gahl, William, Day-Salvatore, Debra, Mindell, Joseph, and Malicdan, May

Subjects
ClC-7 antiporter, chloroquine, cutaneous albinism, lysosomal hyperacidity, lysosomal membrane counterion, lysosomal pH, lysosomal storage disease, oculocutaneous albinism, Acids, Albinism, Animals, Chloride Channels, Female, Fibroblasts, Genetic Variation, Humans, Hydrogen-Ion Concentration, Infant, Lysosomal Storage Diseases, Lysosomes, Male, Mice, Oocytes, Xenopus laevis
Abstract

Optimal lysosome function requires maintenance of an acidic pH maintained by proton pumps in combination with a counterion transporter such as the Cl-/H+ exchanger, CLCN7 (ClC-7), encoded by CLCN7. The role of ClC-7 in maintaining lysosomal pH has been controversial. In this paper, we performed clinical and genetic evaluations of two children of different ethnicities. Both children had delayed myelination and development, organomegaly, and hypopigmentation, but neither had osteopetrosis. Whole-exome and -genome sequencing revealed a de novo c.2144A>G variant in CLCN7 in both affected children. This p.Tyr715Cys variant, located in the C-terminal domain of ClC-7, resulted in increased outward currents when it was heterologously expressed in Xenopus oocytes. Fibroblasts from probands displayed a lysosomal pH approximately 0.2 units lower than that of control cells, and treatment with chloroquine normalized the pH. Primary fibroblasts from both probands also exhibited markedly enlarged intracellular vacuoles; this finding was recapitulated by the overexpression of human p.Tyr715Cys CLCN7 in control fibroblasts, reflecting the dominant, gain-of-function nature of the variant. A mouse harboring the knock-in Clcn7 variant exhibited hypopigmentation, hepatomegaly resulting from abnormal storage, and enlarged vacuoles in cultured fibroblasts. Our results show that p.Tyr715Cys is a gain-of-function CLCN7 variant associated with developmental delay, organomegaly, and hypopigmentation resulting from lysosomal hyperacidity, abnormal storage, and enlarged intracellular vacuoles. Our data supports the hypothesis that the ClC-7 antiporter plays a critical role in maintaining lysosomal pH.

Published
2019

10. Case Report: Ursodeoxycholic acid treatment in Niemann-Pick disease type C; clinical experience in four cases

Author

Evans, William RH, Nicoli, Elena-Raluca, Wang, Raymond Y, Movsesyan, Nina, and Platt, Frances M

Subjects
Biomedical and Clinical Sciences, Clinical Sciences, Biotechnology, Digestive Diseases, Liver Disease, Rare Diseases, Chronic Liver Disease and Cirrhosis, Aetiology, 2.1 Biological and endogenous factors, Oral and gastrointestinal, Metabolic and endocrine, NPC, Niemann Pick disease type C, cholestasis, lysosomal storage disease, p450, treatment, Biomedical and clinical sciences, Health sciences
Abstract

In this case series, we demonstrate that Ursodeoxycholic acid (UDCA) improves liver dysfunction in Niemann-Pick type C (NPC) and may restore a suppressed cytochrome p450 system. NPC disease is a progressive neurodegenerative lysosomal storage disease caused by mutations in either the NPC1 or NPC2 genes. Liver disease is a common feature presenting either acutely as cholestatic jaundice in the neonatal period, or in later life as elevated liver enzymes indicative of liver dysfunction. Recently, an imbalance in bile acid synthesis in a mouse model of NPC disease was linked to suppression of the P450 detoxification system and was corrected by UDCA treatment. UDCA (3α, 7β-dihydroxy-5β-cholanic acid), a hydrophilic bile acid, is used to treat various cholestatic disorders. In this report we summarise the findings from four independent cases of NPC, three with abnormal liver enzyme levels at baseline, that were subsequently treated with UDCA. The patients differed in age and clinical features, they all tolerated the drug well, and in those with abnormal liver function, there were significant improvements in their liver enzyme parameters.

Published
2017

12. IDH1 mutations induce organelle defects via dysregulated phospholipids

Author

Lita, Adrian, Pliss, Artem, Kuzmin, Andrey, Yamasaki, Tomohiro, Zhang, Lumin, Dowdy, Tyrone, Burks, Christina, de Val, Natalia, Celiku, Orieta, Ruiz-Rodado, Victor, Nicoli, Elena-Raluca, Kruhlak, Michael, Andresson, Thorkell, Das, Sudipto, Yang, Chunzhang, Schmitt, Rebecca, Herold-Mende, Christel, Gilbert, Mark R., Prasad, Paras N., and Larion, Mioara

Published
2021
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13. Lysosomal Storage and Albinism Due to Effects of a De Novo CLCN7 Variant on Lysosomal Acidification

Author

Acosta, Maria T., Adams, David R., Agrawal, Pankaj, Alejandro, Mercedes E., Allard, Patrick, Alvey, Justin, Andrews, Ashley, Ashley, Euan A., Azamian, Mahshid S., Bacino, Carlos A., Bademci, Guney, Baker, Eva, Balasubramanyam, Ashok, Baldridge, Dustin, Bale, Jim, Barbouth, Deborah, Batzli, Gabriel F., Bayrak-Toydemir, Pinar, Beggs, Alan H., Bejerano, Gill, Bellen, Hugo J., Bernstein, Jonathan A., Berry, Gerard T., Bican, Anna, Bick, David P., Birch, Camille L., Bivona, Stephanie, Bohnsack, John, Bonnenmann, Carsten, Bonner, Devon, Boone, Braden E., Bostwick, Bret L., Botto, Lorenzo, Briere, Lauren C., Brokamp, Elly, Brown, Donna M., Brush, Matthew, Burke, Elizabeth A., Burrage, Lindsay C., Butte, Manish J., Carey, John, Carrasquillo, Olveen, Chang, Ta Chen Peter, Chao, Hsiao-Tuan, Clark, Gary D., Coakley, Terra R., Cobban, Laurel A., Cogan, Joy D., Cole, F. Sessions, Colley, Heather A., Cooper, Cynthia M., Cope, Heidi, Craigen, William J., D'Souza, Precilla, Dasari, Surendra, Davids, Mariska, Dayal, Jyoti G., Dell'Angelica, Esteban C., Dhar, Shweta U., Dorrani, Naghmeh, Dorset, Daniel C., Douine, Emilie D., Draper, David D., Duncan, Laura, Eckstein, David J., Emrick, Lisa T., Eng, Christine M., Esteves, Cecilia, Estwick, Tyra, Fernandez, Liliana, Ferreira, Carlos, Fieg, Elizabeth L., Fisher, Paul G., Fogel, Brent L., Forghani, Irman, Fresard, Laure, Gahl, William A., Godfrey, Rena A., Goldman, Alica M., Goldstein, David B., Gourdine, Jean-Philippe F., Grajewski, Alana, Groden, Catherine A., Gropman, Andrea L., Haendel, Melissa, Hamid, Rizwan, Hanchard, Neil A., Hayes, Nichole, High, Frances, Holm, Ingrid A., Hom, Jason, Huang, Alden, Huang, Yong, Isasi, Rosario, Jamal, Fariha, Jiang, Yong-hui, Johnston, Jean M., Jones, Angela L., Karaviti, Lefkothea, Kelley, Emily G., Kiley, Dana, Koeller, David M., Kohane, Isaac S., Kohler, Jennefer N., Krakow, Deborah, Krasnewich, Donna M., Korrick, Susan, Koziura, Mary, Krier, Joel B., Kyle, Jennifer E., Lalani, Seema R., Lam, Byron, Lanpher, Brendan C., Lanza, Ian R., Lau, C. Christopher, Lazar, Jozef, LeBlanc, Kimberly, Lee, Brendan H., Lee, Hane, Levitt, Roy, Levy, Shawn E., Lewis, Richard A., Lincoln, Sharyn A., Liu, Pengfei, Liu, Xue Zhong, Longo, Nicola, Loo, Sandra K., Loscalzo, Joseph, Maas, Richard L., Macnamara, Ellen F., MacRae, Calum A., Maduro, Valerie V., Majcherska, Marta M., Malicdan, May Christine V., Mamounas, Laura A., Manolio, Teri A., Mao, Rong, Markello, Thomas C., Marom, Ronit, Marth, Gabor, Martin, Beth A., Martin, Martin G., Martínez-Agosto, Julian A., Marwaha, Shruti, May, Thomas, McCauley, Jacob, McConkie-Rosell, Allyn, McCormack, Colleen E., McCray, Alexa T., Metz, Thomas O., Might, Matthew, Morava-Kozicz, Eva, Moretti, Paolo M., Morimoto, Marie, Mulvihill, John J., Murdock, David R., Nath, Avi, Nelson, Stan F., Newberry, J. Scott, Newman, John H., Nicholas, Sarah K., Novacic, Donna, Oglesbee, Devin, Orengo, James P., Pace, Laura, Pak, Stephen, Pallais, J. Carl, Palmer, Christina G.S., Papp, Jeanette C., Parker, Neil H., Phillips, John A., III, Posey, Jennifer E., Postlethwait, John H., Potocki, Lorraine, Pusey, Barbara N., Quinlan, Aaron, Raja, Archana N., Renteria, Genecee, Reuter, Chloe M., Rives, Lynette, Robertson, Amy K., Rodan, Lance H., Rosenfeld, Jill A., Rowley, Robb K., Ruzhnikov, Maura, Sacco, Ralph, Sampson, Jacinda B., Samson, Susan L., Saporta, Mario, Schaechter, Judy, Schedl, Timothy, Schoch, Kelly, Scott, Daryl A., Shakachite, Lisa, Sharma, Prashant, Shashi, Vandana, Shields, Kathleen, Shin, Jimann, Signer, Rebecca, Sillari, Catherine H., Silverman, Edwin K., Sinsheimer, Janet S., Sisco, Kathy, Smith, Kevin S., Solnica-Krezel, Lilianna, Spillmann, Rebecca C., Stoler, Joan M., Stong, Nicholas, Sullivan, Jennifer A., Sutton, Shirley, Sweetser, David A., Tabor, Holly K., Tamburro, Cecelia P., Tan, Queenie K.-G., Tekin, Mustafa, Telischi, Fred, Thorson, Willa, Tifft, Cynthia J., Toro, Camilo, Tran, Alyssa A., Urv, Tiina K., Velinder, Matt, Viskochil, Dave, Vogel, Tiphanie P., Wahl, Colleen E., Walley, Nicole M., Walsh, Chris A., Walker, Melissa, Wambach, Jennifer, Wan, Jijun, Wang, Lee-kai, Wangler, Michael F., Ward, Patricia A., Waters, Katrina M., Webb-Robertson, Bobbie-Jo M., Wegner, Daniel, Westerfield, Monte, Wheeler, Matthew T., Wise, Anastasia L., Wolfe, Lynne A., Woods, Jeremy D., Worthey, Elizabeth A., Yamamoto, Shinya, Yang, John, Yoon, Amanda J., Yu, Guoyun, Zastrow, Diane B., Zhao, Chunli, Zuchner, Stephan, Nicoli, Elena-Raluca, Weston, Mary R., Hackbarth, Mary, Becerril, Alissa, Larson, Austin, Zein, Wadih M., Baker, Peter R., II, Burke, John Douglas, Dorward, Heidi, Huang, Yan, Zerfas, Patricia M., Chen, Dong, Wood, Tim, Elliott, Gene, Vu, Mylinh, Zheng, Wei, Garrett, Lisa J., Day-Salvatore, Debra L., and Mindell, Joseph A.

Published
2019
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14. GM1 Gangliosidosis Type II: Results of a 10-Year Prospective Study

Author

D’Souza, Precilla, primary, Farmer, Cristan, additional, Johnston, Jean, additional, Han, Sangwoo T, additional, Adams, David, additional, Hartman, Adam L., additional, Zein, Wadih, additional, Huryn, Laryssa A., additional, Solomon, Beth, additional, King, Kelly, additional, Jordan, Christopher, additional, Myles, Jennifer, additional, Nicoli, Elena-Raluca, additional, Rothermel, Caroline E, additional, Mojica Algarin, Yoliann, additional, Huang, Reyna, additional, Quimby, Rachel, additional, Zainab, Mosufa, additional, Bowden, Sarah, additional, Crowell, Anna, additional, Buckley, Ashura, additional, Brewer, Carmen, additional, Regier, Deborah, additional, Brooks, Brian, additional, Baker, Eva, additional, Vézina, Gilbert, additional, Thurm, Audrey, additional, and Tifft, Cynthia J, additional

Published
2024
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18. A rare melanoma feature with primary ovarian origin: a case report and the literature review

Author

Algeri Paola, Rota Sonia Maria, Carlini Laura, Nicoli Elena, Caruso Orlando, and Motta Teresio

Subjects
ovarian cancer, melanoma, teratoma, Gynecology and obstetrics, RG1-991
Abstract

Primary ovarian melanoma arising on a mature ovarian cystic teratoma is extremely rare. As best of our knowledge, to date, 49 cases have been reported in literature. Few information was reported about best management and therapy. We present a case occurred in a 69-year-old woman, without symptoms, who come to our unit for stress incontinence. A pelvic mass was detected and, after imaging evaluation, surgery was performed. The diagnosis was ovarian melanoma arose on a mature teratoma. No other adjuvant treatment was proposed after surgery. She died 9 months after the first diagnosis. Primary ovarian melanoma is a definite entity associated with a variable natural history and poor prognosis. Differential diagnosis is a challenge for the pathologist, because it must be differentiated by metastatic melanoma. The corner stone treatment of this disease is surgery; however, chemotherapy, immunotherapy, and target therapy seem to have a role.

Published
2018
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19. Spectrum ofLYSTmutations in Chediak-Higashi syndrome: a report of novel variants and a comprehensive review of the literature

Author

Morimoto, Marie, primary, Nicoli, Elena-Raluca, additional, Kuptanon, Chulaluck, additional, Roney, Joseph C, additional, Serra-Vinardell, Jenny, additional, Sharma, Prashant, additional, Adams, David R, additional, Gallin, John I, additional, Holland, Steven M, additional, Rosenzweig, Sergio D, additional, Barbot, Jose, additional, Ciccone, Carla, additional, Huizing, Marjan, additional, Toro, Camilo, additional, Gahl, William A, additional, Introne, Wendy J, additional, and Malicdan, May Christine V, additional

Published
2023
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20. Spectrum of LYST mutations in Chediak-Higashi syndrome: a report of novel variants and a comprehensive review of the literature.

Author

Morimoto, Marie, Nicoli, Elena-Raluca, Kuptanon, Chulaluck, Roney, Joseph C., Serra-Vinardell, Jenny, Sharma, Prashant, Adams, David R., Gallin, John I., Holland, Steven M., Rosenzweig, Sergio D., Barbot, Jose, Ciccone, Carla, Huizing, Marjan, Toro, Camilo, Gahl, William A., Introne, Wendy J., and Malicdan, May Christine V.

Abstract

Introduction Chediak-Higashi syndrome (CHS) is a rare autosomal recessive disorder characterised by partial oculocutaneous albinism, a bleeding diathesis, immunological dysfunction and neurological impairment. Bi-allelic loss-of-function variants in LYST cause CHS. LYST encodes the lysosomal trafficking regulator, a highly conserved 429 kDa cytoplasmic protein with an unknown function. Methods: To further our understanding of the pathogenesis of CHS, we conducted clinical evaluations on individuals with CHS enrolled in our natural history study. Using genomic DNA Sanger sequencing, we identified novel pathogenic LYST variants. Additionally, we performed an extensive literature review to curate reported LYST variants and classified these novel and reported variants according to the American College of Medical Genetics/Association for Molecular Pathology variant interpretation guidelines. Results Our investigation unveiled 11 novel pathogenic LYST variants in eight patients with a clinical diagnosis of CHS, substantiated by the presence of pathognomonic giant intracellular granules. From these novel variants, together with a comprehensive review of the literature, we compiled a total of 147 variants in LYST, including 61 frameshift variants (41%), 44 nonsense variants (30%), 23 missense variants (16%), 13 splice site variants or small genomic deletions for which the coding effect is unknown (9%), 5 in-frame variants (3%) and 1 start-loss variant (1%). Notably, a genotype-phenotype correlation emerged, whereby individuals harbouring at least one missense or in-frame variant generally resulted in milder disease, while those with two nonsense or frameshift variants generally had more severe disease. Conclusion The identification of novel pathogenic LYST variants and improvements in variant classification will provide earlier diagnoses and improved care to individuals with CHS. [ABSTRACT FROM AUTHOR]

Published
2024
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21. A secondary abdominal pregnancy with unusual placental implantation in the fallopian tube: a diagnostic challenge

Author

Algeri Paola, Nicoli Elena, Rota Sonia Maria, Caruso Orlando, Manfredini Cinzia, and Buzzi Antonella

Subjects
abdominal pregnancy, placenta, ultrasonography, laparotomy, Gynecology and obstetrics, RG1-991
Abstract

We reported a case of secondary abdominal pregnancy with placental implantation into the fallopian tube, diagnosed at 16 weeks, in a woman admitted to the emergency room complaining of syncopal attacks. The best approach would be termination of the pregnancy, taking into consideration the high risk to the mother and the low possibility of alive and healthy birth. We had to perform an urgent surgical intervention due to the fact that the patient was in a clinically unstable condition, which was related to hemoperitoneum. If placental implantation is on abdominal organs or vessel the best approach would be to ligate the cord and to leave placenta in situ. Taking into consideration the place of placental implant, the removal of the fallopian tube with the placenta was the safest approach in this case. The best and most acceptable form of treatment would be individualized in case of rare form of ectopic pregnancy.

Published
2018
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22. 42 - Telemedicine application in post-operative care

Author

Tangi, Amanda, primary, Boccuti, Anna Maria, additional, Conzadori, Sara, additional, Bonalumi, Alessandra, additional, Sartorello, Silvia, additional, Donadoni, Michele, additional, Tomaselli, Ivana Rosalinda, additional, Nicoli, Elena, additional, and Caruso, Orlando, additional

Published
2023
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25. Defective iron homeostasis and hematological abnormalities in Niemann-Pick disease type C1

Author

Chen, Oscar C W, primary, Siebel, Stephan, additional, Colaco, Alexandria, additional, Nicoli, Elena-Raluca, additional, Platt, Nick, additional, Shepherd, Dawn, additional, Newman, Stephanie, additional, Armitage, Andrew E, additional, Farhat, Nicole Y, additional, Seligmann, George, additional, Smith, Claire, additional, Smith, David A, additional, Abdul-Sada, Alaa, additional, Jeyakumar, Mylvaganam, additional, Drakesmith, Hal, additional, Porter, Forbes D, additional, and Platt, Frances M, additional

Published
2023
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26. cDNA sequencing increases the molecular diagnostic yield in Chediak-Higashi syndrome

Author

Kuptanon, Chulaluk, primary, Morimoto, Marie, additional, Nicoli, Elena-Raluca, additional, Stephen, Joshi, additional, Yarnell, David S., additional, Dorward, Heidi, additional, Owen, William, additional, Parikh, Suhag, additional, Ozbek, Namik Yasar, additional, Malbora, Baris, additional, Ciccone, Carla, additional, Gunay-Aygun, Meral, additional, Gahl, William A., additional, Introne, Wendy J., additional, and Malicdan, May Christine V., additional

Published
2023
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30. Spectrum of LYSTmutations in Chediak-Higashi syndrome: a report of novel variants and a comprehensive review of the literature

Author

Morimoto, Marie, Nicoli, Elena-Raluca, Kuptanon, Chulaluck, Roney, Joseph C, Serra-Vinardell, Jenny, Sharma, Prashant, Adams, David R, Gallin, John I, Holland, Steven M, Rosenzweig, Sergio D, Barbot, Jose, Ciccone, Carla, Huizing, Marjan, Toro, Camilo, Gahl, William A, Introne, Wendy J, and Malicdan, May Christine V

Abstract

IntroductionChediak-Higashi syndrome (CHS) is a rare autosomal recessive disorder characterised by partial oculocutaneous albinism, a bleeding diathesis, immunological dysfunction and neurological impairment. Bi-allelic loss-of-function variants in LYSTcause CHS. LYSTencodes the lysosomal trafficking regulator, a highly conserved 429 kDa cytoplasmic protein with an unknown function.MethodsTo further our understanding of the pathogenesis of CHS, we conducted clinical evaluations on individuals with CHS enrolled in our natural history study. Using genomic DNA Sanger sequencing, we identified novel pathogenic LYSTvariants. Additionally, we performed an extensive literature review to curate reported LYSTvariants and classified these novel and reported variants according to the American College of Medical Genetics/Association for Molecular Pathology variant interpretation guidelines.ResultsOur investigation unveiled 11 novel pathogenic LYSTvariants in eight patients with a clinical diagnosis of CHS, substantiated by the presence of pathognomonic giant intracellular granules. From these novel variants, together with a comprehensive review of the literature, we compiled a total of 147 variants in LYST, including 61 frameshift variants (41%), 44 nonsense variants (30%), 23 missense variants (16%), 13 splice site variants or small genomic deletions for which the coding effect is unknown (9%), 5 in-frame variants (3%) and 1 start-loss variant (1%). Notably, a genotype–phenotype correlation emerged, whereby individuals harbouring at least one missense or in-frame variant generally resulted in milder disease, while those with two nonsense or frameshift variants generally had more severe disease.ConclusionThe identification of novel pathogenic LYSTvariants and improvements in variant classification will provide earlier diagnoses and improved care to individuals with CHS.

Published
2024
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31. Defective iron homeostasis and hematological abnormalities in Niemann-Pick disease type C1

Author

Chen, Oscar C W, primary, Siebel, Stephan, additional, Colaco, Alexandria, additional, Nicoli, Elena-Raluca, additional, Platt, Nick, additional, Shepherd, Dawn, additional, Newman, Stephanie, additional, Armitage, Andrew E, additional, Farhat, Nicole Y, additional, Seligmann, George, additional, Smith, Claire, additional, Smith, David A, additional, Abdul-Sada, Alaa, additional, Jeyakumar, Mylvaganam, additional, Drakesmith, Hal, additional, Porter, Forbes D, additional, and Platt, Frances M, additional

Published
2022
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33. Diagnosis and discovery: Insights from the NIH Undiagnosed Diseases Program

Author

Montano, Carolina, primary, Cassini, Thomas, additional, Ziegler, Shira G., additional, Boehm, Manfred, additional, Nicoli, Elena‐Raluca, additional, Mindell, Joseph A., additional, Soldatos, Ariane G., additional, Manoli, Irini, additional, Wolfe, Lynne, additional, Macnamara, Ellen F., additional, Malicdan, May Christine V., additional, Adams, David R., additional, Tifft, Cynthia J., additional, Toro, Camilo, additional, and Gahl, William A., additional

Published
2022
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35. Assessing Putative Markers of Colorectal Cancer Stem Cells:From Colonoscopy to Gene Expression Profiling

Author

Harbiyeli, Irina Florina Cherciu, Burtea, Daniela Elena, Ivan, Elena Tatiana, Streață, Ioana, Nicoli, Elena Raluca, Uscatu, Daniel, Șerbănescu, Mircea-Sebastian, Ioana, Mihai, Vilmann, Peter, Săftoiu, Adrian, Harbiyeli, Irina Florina Cherciu, Burtea, Daniela Elena, Ivan, Elena Tatiana, Streață, Ioana, Nicoli, Elena Raluca, Uscatu, Daniel, Șerbănescu, Mircea-Sebastian, Ioana, Mihai, Vilmann, Peter, and Săftoiu, Adrian

Abstract

Cancer stem cells (CSCs) are proposed to be involved in colorectal cancer (CRC) initiation, growth, and metastasis. The aim of our pilot study was to assess possible correlations between the clinicopathological characteristics of CRC patients and CSCs gene expression patterns, in order to provide insight into new methods for patient stratification and targeted therapeutic strategies. Our study involved 60 CRC patients, and the following three specific CSC genes were targeted: PROM1/CD133, ALCAM/CD166 and HCAM /CD44. Data are presented as relative mRNA expression of target genes to GAPDH. The expression of total CD133 and CD166 was assessed in paired samples of CRC tumors and adjacent tissue, while CD44 was assessed in similar samples. The qRT-PCR analysis detected all three targeted genes to different extents, in both normal and tumor tissue. In nine cases (15.69%), total CD133 had a higher expression in tumor tissue, whilst in 28 cases (47.06%) the expression was higher in non-malignant peritumor tissue. The total CD166 expression was increased in tumor tissue compared with paired non-invaded peritumor samples in eight cases (13.73%), whilst in eight cases (13.73%) the expression was higher in non-malignant peritumor tissue. Total CD44 expression was higher in tumor tissue compared with paired non-invaded peritumor samples in 47 cases (78.95%). In the remaining cases the difference between paired samples was biologically insignificant. In conclusion, our study suggests that qRT-PCR is feasible in assessing the gene expression profiles of CSCs from CRC, and a promising pathway to be followed for determining how often a person needs screening by colonoscopy and at which age to start. This could improve CRC diagnosis and early patient stratification, and open the way for new oncologic treatment development.

Published
2022

36. eP259: A phase 1/2 trial of AXO-AAV-GM1 gene therapy for the treatment of infantile- and juvenile-onset GM1 gangliosidosis

Author

Tift, Cynthia, primary, D'Souza, Precilla, additional, Johnston, Jean, additional, Acosta, Maria, additional, Nicoli, Elena-Raluca, additional, Rothermel, Caroline, additional, Thurm, Audrey, additional, Karunakara, Ajith, additional, Thorp, Benjamin, additional, Ross, Peter, additional, Jameson, John, additional, Sheehan, Michael, additional, Vaughn, Toby, additional, Valencia, Donna, additional, and De Boever, Erika, additional

Published
2022
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37. eP198: EIF3F compound heterozygous genotype-phenotype association

Author

Nicoli, Elena-Raluca, primary, Streaţa, Ioana, additional, Yang, John, additional, Macnamara, Ellen, additional, Wolfe, Lynne, additional, Garcia, Karolyn, additional, Ciurea, Tudorel, additional, Ioana, Mihai, additional, Gahl, William, additional, Tifft, Cynthia, additional, Acosta, Maria, additional, and Adams, David, additional

Published
2022
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39. Phase 1/2 trial of AXO-AAV-GM1 (AAV9-GLB1) gene therapy for infantile- and juvenile-onset GM1 gangliosidosis

Author

Tifft, Cynthia, primary, D’Souza, Precilla, additional, Johnston, Jean M., additional, Acosta, Maria T., additional, Nicoli, Elena-Raluca, additional, Rothermel, Caroline, additional, Thurm, Audrey, additional, Karunakara, Ajith, additional, Thorp, Benjamin, additional, Ross, Peter, additional, Jameson, John, additional, Sheehan, Michael, additional, Vaughn, Toby, additional, Valencia, Donna, additional, De Boever, Erika, additional, and Corcoran, Gavin, additional

Published
2022
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40. GM1 Gangliosidosis—A Mini-Review

Author

Nicoli, Elena-Raluca, primary, Annunziata, Ida, additional, d’Azzo, Alessandra, additional, Platt, Frances M., additional, Tifft, Cynthia J., additional, and Stepien, Karolina M., additional

Published
2021
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42. A rare melanoma feature with primary ovarian origin: a case report and the literature review

Author

Caruso Orlando, Rota Sonia Maria, Motta Teresio, Carlini Laura, Nicoli Elena, and Algeri Paola

Subjects
medicine.medical_specialty, Stress incontinence, endocrine system diseases, business.industry, Melanoma, Obstetrics and Gynecology, Disease, medicine.disease, Dermatology, lcsh:Gynecology and obstetrics, Natural history, 030207 dermatology & venereal diseases, 03 medical and health sciences, 0302 clinical medicine, ovarian cancer, 030220 oncology & carcinogenesis, melanoma, Medicine, Teratoma, Differential diagnosis, business, Ovarian cancer, teratoma, lcsh:RG1-991, Ovarian Cystic Teratoma
Abstract

Primary ovarian melanoma arising on a mature ovarian cystic teratoma is extremely rare. As best of our knowledge, to date, 49 cases have been reported in literature. Few information was reported about best management and therapy. We present a case occurred in a 69-year-old woman, without symptoms, who come to our unit for stress incontinence. A pelvic mass was detected and, after imaging evaluation, surgery was performed. The diagnosis was ovarian melanoma arose on a mature teratoma. No other adjuvant treatment was proposed after surgery. She died 9 months after the first diagnosis. Primary ovarian melanoma is a definite entity associated with a variable natural history and poor prognosis. Differential diagnosis is a challenge for the pathologist, because it must be differentiated by metastatic melanoma. The corner stone treatment of this disease is surgery; however, chemotherapy, immunotherapy, and target therapy seem to have a role.

Published
2018

43. IDH1 Mutations Induce Organelle Defects Via Dysregulated Phospholipids

Author

Lita, Adrian, primary, Pliss, Artem, additional, Kuzmin, Andrey, additional, Yamasaki, Tomohiro, additional, Zhang, Lumin, additional, Dowdy, Tyrone, additional, Burks, Christina, additional, de Val, Natalia, additional, Celiku, Orieta, additional, Ruiz-Rodado, Victor, additional, Nicoli, Elena-Raluca, additional, Kruhlak, Michael, additional, Andresson, Thorkell, additional, Das, Sudipto, additional, Yang, Chunzhang, additional, Schmitt, Rebecca, additional, Herold-Mende, Christel, additional, Gilbert, Mark R., additional, Prasad, Paras N., additional, and Larion, Mioara, additional

Published
2020
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44. Targeting GLB1 in mice by CRISPR/Cas9 genome editing: Establishing a novel model for type II GM1 gangliosidosis

Author

Nicoli, Elena-Raluca, primary, Han, Ted, additional, Yoon, Robin, additional, Glase, Brianna, additional, Latour, Yvonne, additional, Huebecker, Mylene, additional, D'Souza, Andrea, additional, Peiravi, Morteza, additional, Tyrlik, Michal, additional, Springer, Danielle, additional, Jeeva, Jeeva Munasinghe, additional, Donahue, Danielle, additional, Sidhu, Rohini, additional, Kell, Pamela, additional, Jiang, Xuntian, additional, Acosta, Maria, additional, Platt, Frances M., additional, Proia, Richard L., additional, and Tifft, Cynthia J., additional

Published
2020
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47. INTRODUCTION: CONTINENTAL INTERPRETATIONS OF HELLENISTIC THOUGHT.

Author

Bakker, Frederik, Cimino, Antonio, and Nicoli, Elena

Abstract

Copyright of Symposium: Canadian Journal of Continental Philosophy / Revue Canadienne de Philosophie Continentale is the property of Canadian Society for Continental Philosophy 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
2020
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