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338 results on '"Sarafoglou, Kyriakie"'

2. Frontiers in congenital disorders of glycosylation consortium, a cross-sectional study report at year 5 of 280 individuals in the natural history cohort

Author

Lam, Christina, Scaglia, Fernando, Berry, Gerard T., Larson, Austin, Sarafoglou, Kyriakie, Andersson, Hans C., Sklirou, Evgenia, Tan, Queenie K.G., Starosta, Rodrigo T., Sadek, Mustafa, Wolfe, Lynne, Horikoshi, Seishu, Ali, May, Barone, Rita, Campbell, Teresa, Chang, Irene J., Coles, Kiaira, Cook, Edward, Eklund, Erik A., Engelhardt, Nicole M., Freeman, Mary, Friedman, Jennifer, Fu, Debbie Y.T., Botzo, Grace, Rawls, Brandy, Hernandez, Christien, Johnsen, Christin, Keller, Kierstin, Kramer, Sara, Kuschel, Bryce, Leshinski, Angela, Martinez-Duncker, Ivan, Mazza, Gina L., Mercimek-Andrews, Saadet, Miller, Bradley S., Muthusamy, Karthik, Neira, Juanita, Patterson, Marc C., Pogorelc, Natalie, Powers, Lex N., Ramey, Elizabeth, Reinhart, Michaela, Squire, Audrey, Thies, Jenny, Vockley, Jerry, Vreugdenhil, Hayden, Witters, Peter, Youbi, Mehdi, Zeighami, Aziza, Zemet, Roni, Edmondson, Andrew C., and Morava, Eva

Published
2024
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3. Future Directions in the Management of Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency.

Author

Sarafoglou, Kyriakie and Auchus, Richard J

Subjects
ADRENOGENITAL syndrome, DRUG therapy, HYDROCORTISONE, DISEASE management, GLUCOCORTICOIDS
Abstract

Context The traditional management of classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (21OHD) is difficult and often suboptimal. Objective To review improvements in the diagnosis and management of 21OHD. Design Literature review, synthesis, and authors' experience. Setting United States (2 centers). Participants Not applicable. Interventions Not applicable. Main Outcomes Not applicable. Results The 11-oxygenated androgens are abundant in 21OHD, and their measurement might improve diagnosis and medication titration. Several new treatments are under development. Conclusion Circadian delivery of hydrocortisone improves disease management of 21OHD compared to conventional glucocorticoids. Glucocorticoid-sparing therapies such as crinecerfont and atumelnant offer the potential for a block-and-replace strategy, with physiologic replacement dosing of hydrocortisone. Clinical Trial Registration None. [ABSTRACT FROM AUTHOR]

Published
2025
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4. De novo, deleterious sequence variants that alter the transcriptional activity of the homeoprotein PBX1 are associated with intellectual disability and pleiotropic developmental defects

Author

Slavotinek, Anne, Risolino, Maurizio, Losa, Marta, Cho, Megan T, Monaghan, Kristin G, Schneidman-Duhovny, Dina, Parisotto, Sarah, Herkert, Johanna C, Stegmann, Alexander PA, Miller, Kathryn, Shur, Natasha, Chui, Jacqueline, Muller, Eric, DeBrosse, Suzanne, Szot, Justin O, Chapman, Gavin, Pachter, Nicholas S, Winlaw, David S, Mendelsohn, Bryce A, Dalton, Joline, Sarafoglou, Kyriakie, Karachunski, Peter I, Lewis, Jane M, Pedro, Helio, Dunwoodie, Sally L, Selleri, Licia, and Shieh, Joseph

Subjects
Congenital Structural Anomalies, Pediatric, Stem Cell Research, Clinical Research, Genetics, Stem Cell Research - Embryonic - Non-Human, Kidney Disease, Biotechnology, 2.1 Biological and endogenous factors, Aetiology, Adolescent, Adult, Amino Acid Sequence, Animals, Child, Child, Preschool, Female, Genetic Pleiotropy, Homeodomain Proteins, Humans, Infant, Infant, Newborn, Intellectual Disability, Male, Mice, Pre-B-Cell Leukemia Transcription Factor 1, Pregnancy, Protein Binding, Proto-Oncogene Proteins, Transcription Factors, Biological Sciences, Medical and Health Sciences, Genetics & Heredity
Abstract

We present eight patients with de novo, deleterious sequence variants in the PBX1 gene. PBX1 encodes a three amino acid loop extension (TALE) homeodomain transcription factor that forms multimeric complexes with TALE and HOX proteins to regulate target gene transcription during development. As previously reported, Pbx1 homozygous mutant mice (Pbx1-/-) develop malformations and hypoplasia or aplasia of multiple organs, including the craniofacial skeleton, ear, branchial arches, heart, lungs, diaphragm, gut, kidneys, and gonads. Clinical findings similar to those in Pbx mutant mice were observed in all patients with varying expressivity and severity, including external ear anomalies, abnormal branchial arch derivatives, heart malformations, diaphragmatic hernia, renal hypoplasia and ambiguous genitalia. All patients but one had developmental delays. Previously reported patients with congenital anomalies affecting the kidney and urinary tract exhibited deletions and loss of function variants in PBX1. The sequence variants in our cases included missense substitutions adjacent to the PBX1 homeodomain (p.Arg184Pro, p.Met224Lys, and p.Arg227Pro) or within the homeodomain (p.Arg234Pro, and p.Arg235Gln), whereas p.Ser262Glnfs*2, and p.Arg288* yielded truncated PBX1 proteins. Functional studies on five PBX1 sequence variants revealed perturbation of intrinsic, PBX-dependent transactivation ability and altered nuclear translocation, suggesting abnormal interactions between mutant PBX1 proteins and wild-type TALE or HOX cofactors. It is likely that the mutations directly affect the transcription of PBX1 target genes to impact embryonic development. We conclude that deleterious sequence variants in PBX1 cause intellectual disability and pleiotropic malformations resembling those in Pbx1 mutant mice, arguing for strong conservation of gene function between these two species.

Published
2017

6. Bone Health Management After Hematopoietic Cell Transplantation: An Expert Panel Opinion from the American Society for Transplantation and Cellular Therapy

Author

Bar, Merav, Ott, Susan M., Lewiecki, E. Michael, Sarafoglou, Kyriakie, Wu, Joy Y., Thompson, Matthew J., Vaux, Jonathan J., Dean, David R., Saag, Kenneth G., Hashmi, Shahrukh K., Inamoto, Yoshihiro, Dholaria, Bhagirathbhai R., Kharfan-Dabaja, Mohamed A., Nagler, Arnon, Rodriguez, Cesar, Hamilton, Betty K., Shah, Nina, Flowers, Mary E.D., Savani, Bipin N., and Carpenter, Paul A.

Published
2020
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7. Next generation sequencing in endocrine practice

Author

Forlenza, Gregory P, Calhoun, Amy, Beckman, Kenneth B, Halvorsen, Tanya, Hamdoun, Elwaseila, Zierhut, Heather, Sarafoglou, Kyriakie, Polgreen, Lynda E, Miller, Bradley S, Nathan, Brandon, and Petryk, Anna

Subjects
Human Genome, Genetics, Biotechnology, Genetic Testing, Prevention, 4.1 Discovery and preclinical testing of markers and technologies, Detection, screening and diagnosis, Good Health and Well Being, Alkaline Phosphatase, Endocrine Glands, Endocrine System Diseases, Endocrinology, High-Throughput Nucleotide Sequencing, Humans, Hypophosphatasia, Mutation, Sequence Analysis, DNA, Gene, Hormone, Adrenal, Vitamin D, PTH, Thyroid, Gonad, Pituitary, Clinical Sciences, Genetics & Heredity
Abstract

With the completion of the Human Genome Project and advances in genomic sequencing technologies, the use of clinical molecular diagnostics has grown tremendously over the last decade. Next-generation sequencing (NGS) has overcome many of the practical roadblocks that had slowed the adoption of molecular testing for routine clinical diagnosis. In endocrinology, targeted NGS now complements biochemical testing and imaging studies. The goal of this review is to provide clinicians with a guide to the application of NGS to genetic testing for endocrine conditions, by compiling a list of established gene mutations detectable by NGS, and highlighting key phenotypic features of these disorders. As we outline in this review, the clinical utility of NGS-based molecular testing for endocrine disorders is very high. Identifying an exact genetic etiology improves understanding of the disease, provides clear explanation to families about the cause, and guides decisions about screening, prevention and/or treatment. To illustrate this approach, a case of hypophosphatasia with a pathogenic mutation in the ALPL gene detected by NGS is presented.

Published
2015

10. Practice Variation among Pediatric Endocrinologists in the Dosing of Glucocorticoids in Young Children with Congenital Adrenal Hyperplasia

Author

Al-Rayess, Heba, primary, Lahoti, Amit, additional, Simpson, Leslie Long, additional, Palzer, Elise, additional, Thornton, Paul, additional, Heksch, Ryan, additional, Kamboj, Manmohan, additional, Stanley, Takara, additional, Regelmann, Molly O., additional, Gupta, Anshu, additional, Raman, Vandana, additional, Mehta, Shilpa, additional, Geffner, Mitchell E., additional, and Sarafoglou, Kyriakie, additional

Published
2023
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13. Crinecerfont, a CRF1 Receptor Antagonist, Lowers Adrenal Androgens in Adolescents With Congenital Adrenal Hyperplasia

Author

Newfield, Ron S, primary, Sarafoglou, Kyriakie, additional, Fechner, Patricia Y, additional, Nokoff, Natalie J, additional, Auchus, Richard J, additional, Vogiatzi, Maria G, additional, Jeha, George S, additional, Giri, Nagdeep, additional, Roberts, Eiry, additional, Sturgeon, Julia, additional, Chan, Jean L, additional, and Farber, Robert H, additional

Published
2023
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14. Crinecerfont (NBI-74788), a Novel CRF1 Receptor Antagonist, Lowers Adrenal Androgens and Precursors in Adolescents with Classic Congenital Adrenal Hyperplasia

Author

Newfield, Ron, primary, Sarafoglou, Kyriakie, additional, Fechner, Patricia Y., additional, Nokoff, Natalie J., additional, Auchus, Richard, additional, Vogiatzi, Maria, additional, Giri, Nagdeep, additional, Roberts, Eiry, additional, Sturgeon, Julia, additional, Chan, Jean L., additional, and Farber, Robert, additional

Published
2023
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18. Case Report: Anastrozole as a monotherapy for pre-pubertal children with non-classic congenital adrenal hyperplasia

Author

Liu, Sandy C., Suresh, Malavika, Jaber, Mutaz, Mercado Munoz, Yesica, and Sarafoglou, Kyriakie

Subjects
Endocrinology, Diabetes and Metabolism
Abstract

Most children with non-classic congenital adrenal hyperplasia (NC-CAH) due to 21-hydroxylase deficiency are asymptomatic and do not require cortisol replacement therapy unless they develop symptoms of hyperandrogenemia. The current practice is to treat symptomatic children with hydrocortisone aimed at suppressing excess adrenal androgen production irrespective of the child’s level of endogenous cortisol production. Once on hydrocortisone therapy, even children with normal cortisol production require stress dosing. Some children with NC-CAH may present with premature adrenarche, growth acceleration, and advanced bone age, but with no signs of genital virilization and normal endogenous cortisol production. In these cases, an alternative therapy to hydrocortisone treatment that does not impact the hypothalamic–pituitary–adrenal axis, but targets increased estrogen production and its effects on bone maturation, could be considered. Aromatase inhibitors (AIs), which block the aromatization of androgen to estrogen, have been used off-label in men with short stature to delay bone maturation and as an adjunct therapy in children with classic CAH. The use of AI as a monotherapy for children with NC-CAH has never been reported. We present three pre-pubertal female children with a diagnosis of NC-CAH treated with anastrozole monotherapy after presenting with advanced bone age, early adrenarche, no signs of genital virilization, and normal peak cortisol in response to ACTH stimulation testing. Bone age z-scores normalized, and all three reached or exceeded their target heights. Monotherapy with anastrozole can be an effective alternative in slowing down bone maturation and improving height outcomes in children with NC-CAH and normal adrenal cortisol production.

Published
2023
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22. Crinecerfont, a CRF1 Receptor Antagonist, Lowers Adrenal Androgens in Adolescents With Congenital Adrenal Hyperplasia.

Author

Newfield, Ron S., Sarafoglou, Kyriakie, Fechner, Patricia Y., Nokoff, Natalie J., Auchus, Richard J., Vogiatzi, Maria G., Jeha, George S., Giri, Nagdeep, Roberts, Eiry, Sturgeon, Julia, Chan, Jean L., and Farber, Robert H.

Subjects
ANDROGENS, ADRENOGENITAL syndrome
Abstract

Context: Crinecerfont, a corticotropin-releasing factor type 1 receptor antagonist, has been shown to reduce elevated adrenal androgens and precursors in adults with congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21OHD), a rare autosomal recessive disorder characterized by cortisol deficiency and androgen excess due to elevated adrenocorticotropin. Objective: To evaluate the safety, tolerability, and efficacy of crinecerfont in adolescents with 21OHD CAH. Methods: This was an open-label, phase 2 study (NCT04045145) at 4 centers in the United States. Participants were males and females, 14 to 17 years of age, with classic 21OHD CAH. Crinecerfont was administered orally (50 mg twice daily) for 14 consecutive days with morning and evening meals. The main outcomes were change from baseline to day 14 in circulating concentrations of ACTH, 17-hydroxyprogesterone (17OHP), androstenedione, and testosterone. Results: 8 participants (3 males, 5 females) were enrolled; median age was 15 years and 88% were Caucasian/White. After 14 days of crinecerfont, median percent reductions from baseline to day 14 were as follows: ACTH, -57%; 17OHP, -69%; and androstenedione, -58%. In female participants, 60% (3/5) had =50% reduction from baseline in testosterone. Conclusion: Adolescents with classic 21OHD CAH had substantial reductions in adrenal androgens and androgen precursors after 14 days of oral crinecerfont administration. These results are consistent with a study of crinecerfont in adults with classic 21OHD CAH. [ABSTRACT FROM AUTHOR]

Published
2023
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24. OR18-4 Crinecerfont (NBI-74788), a Novel CRF1 Receptor Antagonist, Lowers Adrenal Androgens and Precursors in Adolescents with Classic Congenital Adrenal Hyperplasia

Author

Auchus, Richard, primary, Chan, Jean, additional, Farber, Robert, additional, Fechner, Patricia, additional, Giri, Nagdeep, additional, Nokoff, Natalie, additional, Roberts, Eiry, additional, Sarafoglou, Kyriakie, additional, Sturgeon, Julia, additional, Vogiatzi, Maria, additional, and Newfield, Ron, additional

Published
2022
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25. ODP046 Initial Lessons from a Prescreening Protocol to Identify Participants with Classic CAH Potentially Eligible for Gene Therapy Treatment with BBP-631, an Adeno-associated Virus (AAV) Serotype 5-Based Recombinant Vector Encoding the Human CYP21A2 Gene

Author

Bharucha, Kamal, primary, Weinstein, Debra, additional, Kirby, Kathleen, additional, Auchus, Richard, additional, Geffner, Mitchell, additional, Kim, Mimi, additional, Sarafoglou, Kyriakie, additional, Williams, Rachel, additional, and Shaywitz, Adam, additional

Published
2022
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31. Probing the functional consequence and clinical relevance of CD320 p.E88del, a variant in the transcobalamin receptor gene

Author

Pangilinan, Faith, primary, Watkins, David, additional, Bernard, David, additional, Chen, Yue, additional, Dong, Ningzheng, additional, Wu, Qingyu, additional, Ozel‐Abaan, Hatice, additional, Kaur, Manjit, additional, Caggana, Michele, additional, Morrissey, Mark, additional, Browne, Marilyn L., additional, Mills, James L., additional, Van Ryzin, Carol, additional, Shchelochkov, Oleg, additional, Sloan, Jennifer, additional, Venditti, Charles P., additional, Sarafoglou, Kyriakie, additional, Rosenblatt, David S., additional, Kay, Denise M., additional, and Brody, Lawrence C., additional

Published
2022
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33. Reply

Author

Bomberg, Eric Morris, Addo, Oppong Yaw, Sarafoglou, Kyriakie, and Miller, Bradley Scott

Published
2021
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40. Should patients with Phosphomannomutase 2-CDG be screened for adrenal insufficiency?

Author

Cechova, Anna, Honzik, Tomas, Edmondson, Andrew C., Ficicioglu, Can, Serrano, Mercedes, Barone, Rita, De Lonlay, Pascale, Schiff, Manuel, Witters, Peter, Lam, Christina, Patterson, Marc, Janssen, Mirian CH, Correia, Joana, Quelhas, Dulce, Sykut-Cegielska, Jolanta, Plotkin, Horacio, Morava, Eva, and Sarafoglou, Kyriakie

Subjects
Adult, Male, Glycosylation, Adolescent, Infant, Pituitary-Adrenal System, Middle Aged, Article, Young Adult, Congenital Disorders of Glycosylation, Phosphotransferases (Phosphomutases), Risk Factors, Child, Preschool, Humans, Female, Prospective Studies, Child, Adrenal Insufficiency
Abstract

PMM2-CDG is the most common congenital disorder of glycosylation (CDG) accounting for almost 65% of known CDG cases affecting N-glycosylation. Abnormalities in N-glycosylation could have a negative impact on many endocrine axes. There is very little known on the effect of impaired N-glycosylation on the hypothalamic-pituitary-adrenal axis function and whether CDG patients are at risk of secondary adrenal insufficiency and decreased adrenal cortisol production. Cortisol and ACTH concentrations were simultaneously measured between 7:44 am to 1 pm in forty-three subjects (20 female, median age 12.8 years, range 0.1 to 48.6 years) participating in an ongoing international, multi-center Natural History study for PMM2-CDG (ClinicalTrials.gov Identifier: NCT03173300). Of the 43 subjects, 11 (25.6%) had cortisol below 5 μg/dl and low to normal ACTH levels, suggestive of secondary adrenal insufficiency. Two of the 11 subjects have confirmed central adrenal insufficiency and are on hydrocortisone replacement and/or stress dosing during illness; 3 had normal and 1 had subnormal cortisol response to ACTH low-dose stimulation test but has not yet been started on therapy; the remaining 5 have upcoming stimulation testing planned. Our findings suggest that patients with PMM2-CDG may be at risk for adrenal insufficiency. Monitoring of morning cortisol and ACTH levels should be part of the standard care in patients with PMM2-CDG.

Published
2021

42. An endocrine perspective on menstrual suppression for adolescents: achieving good suppression while optimizing bone health

Author

Lahoti, Amit, primary, Yu, Christine, additional, Brar, Preneet Cheema, additional, Dalgo, Austin, additional, Gourgari, Evgenia, additional, Harris, Rebecca, additional, Kamboj, Manmohan K., additional, Marks, Seth, additional, Nandagopal, Radha, additional, Page, Laura, additional, Raman, Vandana, additional, Reynolds, Danielle G., additional, Sarafoglou, Kyriakie, additional, Terrell, Carrie, additional, and Stanley, Takara L., additional

Published
2021
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46. Design of a Phase 1/2 Open-Label, Dose-Escalation Study of the Safety and Efficacy of Gene Therapy in Adults With Classic Congenital Adrenal Hyperplasia (CAH) Due to 21-hydroxylase Deficiency Through Administration of an Adeno-Associated Virus (AAV) Serotype 5-Based Recombinant Vector Encoding the Human CYP21A2 Gene

Author

Merke, Deborah P, primary, Auchus, Richard Joseph, additional, Sarafoglou, Kyriakie, additional, Geffner, Mitchell E, additional, Kim, Mimi S, additional, Escandon, Rafael D, additional, Bharucha, Kamal N, additional, Shaywitz, Adam J, additional, Eclov, Rachel, additional, Beard, Clayton W, additional, Fur, Sophie Le, additional, and Bougneres, Pierre F, additional

Published
2021
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47. Changes in Adrenal and Gonadal Androgens After 14-Day Treatment With CRF1 Receptor Antagonist, Crinecerfont (NBI-74788), in Men With Classic 21-Hydroxylase Deficiency

Author

He, Xin, primary, Sarafoglou, Kyriakie, additional, Fechner, Patricia Y, additional, Vogiatzi, Maria George, additional, Imel, Erik Allen, additional, Davis, Shanlee Marie, additional, Sturgeon, Julia, additional, Chan, Jean Lin, additional, Farber, Robert, additional, and Auchus, Richard Joseph, additional

Published
2021
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