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1. Determinant of Prenatal Diagnostic Testing among Women with Increased Risk of Fetal Aneuploidy and Genetic Disorders.

Author

Tan, Catherine, Della-Torre, Micaela, Jackson-Bey, Tia, DiGiovanni, Laura, Enakpene, Christopher, and Morgan, Tamandra

Subjects
Pregnancy, Humans, Female, Retrospective Studies, Aneuploidy, Down Syndrome, Nuchal Translucency Measurement, Fetus, Prenatal Diagnosis, Ultrasonography, Prenatal, Genetic Testing
Abstract

OBJECTIVE:  This study aimed to assess factors that influence patients decisions in accepting prenatal diagnostic testing following genetic counseling for increased risk of fetal aneuploidy. METHODS:  This is a retrospective cohort study of women at increased risk of fetal aneuploidy and genetic disorders who had genetic counseling from January 2012 to December 2016 at a single academic center. Demographics, indications for genetic counseling, and rates of diagnostic testing were collected and compared between those who accepted diagnostic testing and those who chose cell free DNA. The variables were analyzed using Chi-square, Fishers exact test, and multiple logistic regression. RESULT:  Of the 2,373 pregnant women who underwent genetic counseling for increased risk of fetal aneuploidy and genetic disorders during the study period, 321 women had diagnostic testing (13.5%). Women at 35 years and older accepted diagnostic testing more than women younger than 35 years (20.7 vs. 11.5%, p

Published
2024

3. Arf1-PI4KIIIβ positive vesicles regulate PI(3)P signaling to facilitate lysosomal tubule fission.

Author

Boutry, Maxime, DiGiovanni, Laura F., Demers, Nicholas, Fountain, Aaron, Mamand, Sami, Botelho, Roberto J., and Kim, Peter K.

Abstract

Formation and fission of tubules from autolysosomes, endolysosomes, or phagolysosomes are required for lysosome reformation. However, the mechanisms governing these processes in these different lysosomal organelles are poorly understood. Thus, the role of phosphatidylinositol-4-phosphate (PI(4)P) is unclear as it was shown to promote the formation of tubules from phagolysosomes but was proposed to inhibit tubule formation on autolysosomes because the loss of PI4KIIIβ causes extensive lysosomal tubulation. Using super-resolution live-cell imaging, we show that Arf1-PI4KIIIβ positive vesicles are recruited to tubule fission sites from autolysosomes, endolysosomes, and phagolysosomes. Moreover, we show that PI(4)P is required to form autolysosomal tubules and that increased lysosomal tubulation caused by loss of PI4KIIIβ represents impaired tubule fission. At the site of fission, we propose that Arf1-PI4KIIIβ positive vesicles mediate a PI(3)P signal on lysosomes in a process requiring the lipid transfer protein SEC14L2. Our findings indicate that Arf1-PI4KIIIβ positive vesicles and their regulation of PI(3)P are critical components of the lysosomal tubule fission machinery. [ABSTRACT FROM AUTHOR]

Published
2023
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4. Fyn and TOM1L1 are recruited to clathrin-coated pits and regulate Akt signaling

Author

Cabral-Dias, Rebecca, primary, Lucarelli, Stefanie, additional, Zak, Karolina, additional, Rahmani, Sadia, additional, Judge, Gurjeet, additional, Abousawan, John, additional, DiGiovanni, Laura F., additional, Vural, Dafne, additional, Anderson, Karen E., additional, Sugiyama, Michael G., additional, Genc, Gizem, additional, Hong, Wanjin, additional, Botelho, Roberto J., additional, Fairn, Gregory D., additional, Kim, Peter K., additional, and Antonescu, Costin N., additional

Published
2022
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5. Glycogen synthase downregulation rescues the amylopectinosis of murine RBCK1 deficiency

Author

Nitschke, Silvia, primary, Sullivan, Mitchell A, additional, Mitra, Sharmistha, additional, Marchioni, Charlotte R, additional, Lee, Jennifer P  Y, additional, Smith, Brandon H, additional, Ahonen, Saija, additional, Wu, Jun, additional, Chown, Erin E, additional, Wang, Peixiang, additional, Petković, Sara, additional, Zhao, Xiaochu, additional, DiGiovanni, Laura F, additional, Perri, Ami M, additional, Israelian, Lori, additional, Grossman, Tamar R, additional, Kordasiewicz, Holly, additional, Vilaplana, Francisco, additional, Iwai, Kazuhiro, additional, Nitschke, Felix, additional, and Minassian, Berge A, additional

Published
2022
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7. Longitudinal outcomes with cancer multigene panel testing in previously tested BRCA1/2 negative patients

Author

Bradbury, Angela R., primary, Egleston, Brian L., additional, Patrick‐Miller, Linda J., additional, Rustgi, Neil, additional, Brandt, Amanda, additional, Brower, Jamie, additional, DiGiovanni, Laura, additional, Fetzer, Dominique, additional, Berkelbach, Christopher, additional, Long, Jessica M., additional, Powers, Jacquelyn, additional, Stopfer, Jill E., additional, and Domchek, Susan M., additional

Published
2020
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9. Research participants’ experiences with return of genetic research results and preferences for web‐based alternatives

Author

Gaieski, Jill B., primary, Patrick‐Miller, Linda, additional, Egleston, Brian L., additional, Maxwell, Kara N., additional, Walser, Sarah, additional, DiGiovanni, Laura, additional, Brower, Jamie, additional, Fetzer, Dominique, additional, Ganzak, Amanda, additional, McKenna, Danielle, additional, Long, Jessica M., additional, Powers, Jacquelyn, additional, Stopfer, Jill E., additional, Nathanson, Katherine L., additional, Domchek, Susan M., additional, and Bradbury, Angela R., additional

Published
2019
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11. Huntingtin N17 Domain is a Reactive Oxygen Species Sensor Regulating Huntingtin Phosphorylation and Localization

Author

DiGiovanni, Laura, Truant, Ray, and Biochemistry and Biomedical Sciences

Subjects
Huntington's Disease, congenital, hereditary, and neonatal diseases and abnormalities, Cell Stress, mental disorders, Oxidation, Huntingtin, Phosphorylation, nervous system diseases
Abstract

The huntingtin N17 domain is the master regulator of huntingtin intracellular localization. N17 is post-translationally modified, and phosphorylation of N17 serines 13 and 16 facilitate the stress dependent nuclear translocation of huntingtin by inhibiting CRM1 binding and nuclear export. In Huntington’s disease (HD), mutant huntingtin is hypo-phosphorylated and increasing N17 phosphorylation has been shown to be protective in HD mouse models. N17 phosphorylation is therefore a valid therapeutic sub-target of huntingtin. The ER stresses that have been previously characterized to affect huntingtin phosphorylation are broad, likely activating a plethora of response pathways. Thus, in this study, we sought to define a specific stress that could affect huntingtin phosphorylation and nuclear localization. Here we show that huntingtin localization and phosphorylation can be specifically affected by reactive oxygen species (ROS). We identify a highly conserved methionine at position 8 (M8) as the specific sensor of oxidative species within N17 and show the capacity of oxido-mimetic M8 point mutations to affect N17 structure, localization and phosphorylation. We also define a specific molecular mechanism whereby N17 oxidation promotes membrane dissociation, thus increasing kinase accessibility and subsequent phosphorylation. These results define a precise molecular mechanism for the normal biological regulation of huntingtin phosphorylation by oxidative signalling. This ability of huntingtin to sense ROS levels at the ER provides a link between age-associated stress and altered huntingtin function. It suggests that ROS stress due to aging may be a critical molecular trigger of HD that could explain the age-onset nature of disease. Thesis Master of Science (MSc)

Published
2016

12. Conflicting Interpretation of Genetic Variants and Cancer Risk by Commercial Laboratories as Assessed by the Prospective Registry of Multiplex Testing

Author

Balmaña Gelpí, Judith, Digiovanni, Laura, Gaddam, Pragna, Walsh, Michael F., Joseph, Vijai, Stadler, Zsofia K., Nathanson, Katherine L., Garber, Judy E., Couch, Fergus J., Offit, Kenneth, Robson, Mark E., Domchek, Susan M., and Universitat Autònoma de Barcelona

Subjects
0301 basic medicine, Male, Cancer Research, medicine.medical_specialty, PALB2, Genetics, Medical, MEDLINE, Bioinformatics, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, Neoplasms, Genetic variation, medicine, Humans, Genetic Predisposition to Disease, Genetic Testing, Prospective Studies, Registries, Prospective cohort study, CHEK2, Genetic testing, Massive parallel sequencing, medicine.diagnostic_test, business.industry, Genetic Variation, High-Throughput Nucleotide Sequencing, 030104 developmental biology, Oncology, 030220 oncology & carcinogenesis, Cohort, Female, business, Laboratories
Abstract

Purpose Massively parallel sequencing allows simultaneous testing of multiple genes associated with cancer susceptibility. Guidelines are available for variant classification; however, interpretation of these guidelines by laboratories and providers may differ and lead to conflicting reporting and, potentially, to inappropriate medical management. We describe conflicting variant interpretations between Clinical Laboratory Improvement Amendments–approved commercial clinical laboratories, as reported to the Prospective Registry of Multiplex Testing (PROMPT), an online genetic registry. Methods Clinical data and genetic testing results were gathered from 1,191 individuals tested for inherited cancer susceptibility and self-enrolled in PROMPT between September 2014 and October 2015. Overall, 518 participants (603 genetic variants) had a result interpreted by more than one laboratory, including at least one submitted to ClinVar, and these were used as the final cohort for the current analysis. Results Of the 603 variants, 221 (37%) were classified as a variant of uncertain significance (VUS), 191 (32%) as pathogenic, and 34 (6%) as benign. The interpretation differed among reporting laboratories for 155 (26%). Conflicting interpretations were most frequently reported for CHEK2 and ATM, followed by RAD51C, PALB2, BARD1, NBN, and BRIP1. Among all participants, 56 of 518 (11%) had a variant with conflicting interpretations ranging from pathogenic/likely pathogenic to VUS, a discrepancy that may alter medical management. Conclusions Conflicting interpretation of genetic findings from multiplex panel testing used in clinical practice is frequent and may have implications for medical management decisions.

Published
2016

13. Exercise-Induced Dose-Response Alterations in Adiponectin and Leptin Levels Are Dependent on Body Fat Changes in Women at Risk for Breast Cancer

Author

Sturgeon, Kathleen, primary, Digiovanni, Laura, additional, Good, Jerene, additional, Salvatore, Domenick, additional, Fenderson, Desiré, additional, Domchek, Susan, additional, Stopfer, Jill, additional, Galantino, Mary Lou, additional, Bryan, Cathy, additional, Hwang, Wei-Ting, additional, and Schmitz, Kathryn, additional

Published
2016
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15. Patient feedback and early outcome data with a novel tiered-binned model for multiplex breast cancer susceptibility testing

Author

Bradbury, Angela R., primary, Patrick-Miller, Linda J., additional, Egleston, Brian L., additional, DiGiovanni, Laura, additional, Brower, Jamie, additional, Harris, Diana, additional, Stevens, Evelyn M., additional, Maxwell, Kara N., additional, Kulkarni, Abha, additional, Chavez, Tyler, additional, Brandt, Amanda, additional, Long, Jessica M., additional, Powers, Jacquelyn, additional, Stopfer, Jill E., additional, Nathanson, Katherine L., additional, and Domchek, Susan M., additional

Published
2016
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16. Development of a tiered and binned genetic counseling model for informed consent in the era of multiplex testing for cancer susceptibility

Author

Bradbury, Angela R., primary, Patrick-Miller, Linda, additional, Long, Jessica, additional, Powers, Jacquelyn, additional, Stopfer, Jill, additional, Forman, Andrea, additional, Rybak, Christina, additional, Mattie, Kristin, additional, Brandt, Amanda, additional, Chambers, Rachelle, additional, Chung, Wendy K., additional, Churpek, Jane, additional, Daly, Mary B., additional, Digiovanni, Laura, additional, Farengo-Clark, Dana, additional, Fetzer, Dominique, additional, Ganschow, Pamela, additional, Grana, Generosa, additional, Gulden, Cassandra, additional, Hall, Michael, additional, Kohler, Lynne, additional, Maxwell, Kara, additional, Merrill, Shana, additional, Montgomery, Susan, additional, Mueller, Rebecca, additional, Nielsen, Sarah, additional, Olopade, Olufunmilayo, additional, Rainey, Kimberly, additional, Seelaus, Christina, additional, Nathanson, Katherine L., additional, and Domchek, Susan M., additional

Published
2015
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18. Adiponectin and Leptin are Not Positively Effected by Low Dose or High Dose Exercise Training

Author

Sturgeon, Kathleen M., primary, Adelman, Jessica, additional, DiGiovanni, Laura, additional, Salvatore, Domenick, additional, Fenderson, Desire’, additional, Good, Jerene, additional, Grant, Lorita, additional, Schnall, Mitchell, additional, Kontos, Despina, additional, Domcheck, Susan, additional, Stopfer, Jill Stopfer, additional, Galantino, Mary Lou, additional, Kurzer, Mindy, additional, Williams, Nancy, additional, Hwang, Wei-Ting, additional, Morales, Knashawn, additional, Wu, Shandong, additional, Bryan, Cathy J., additional, and Schmitz, Kathryn H., additional

Published
2014
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19. Impact of a Brief Touchscreen Based Modified Geriatric Assessment on the Care of Older Adults with Multiple Myeloma

Author

Nathwani, Nitya, Kurtin, Sandra, Lipe, Brea, Mohile, Supriya, Catamero, Donna D, Wildes, Tanya M., Wujcik, Debra, Davis, Agnes, Digiovanni, Laura, Stricker, Carrie T, and Hurria, Arti

Abstract

Background:Most adults (60%) diagnosed with Multiple Myeloma (MM) are > 65 years old (YO) and thus are at higher risk for toxicities of cancer treatment. Geriatric assessment (GA) can identify patients at risk for toxicity and morbidity more effectively than age or performance status, but is not easily integrated into a busy clinical setting. A technology assisted, modified GA (mGA) that includes the Palumbo frailty score can be used to summarize and report relevant clinical and self-reported symptom data to inform treatment decision making.

Published
2017
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20. A Case of Massive Hepatic Infarction in a Patient with HELLP Syndrome.

Author

Morgan J, Della Torre M, Whelan AR, Rodriguez SM, and DiGiovanni LM

Abstract

Background  Hepatic infarction is an exceedingly rare complication of hemolysis, elevated liver enzymes, and low platelets syndrome. Few cases have been described in the medical literature and the true incidence remains unknown. It can lead to fulminant liver failure, liver transplant, or death if not promptly addressed. Case Report  A 22-year-old primigravida presented with right upper quadrant and epigastric pain at 28 weeks' gestation. She had severely elevated blood pressures requiring intravenous antihypertensives as well as proteinuria, thrombocytopenia, and mild transaminitis. Within 6 hours of admission, her rapidly rising liver function tests (LFTs) necessitated urgent delivery by primary cesarean section. Her liver enzymes continued to rapidly worsen postoperatively and immediate postpartum computed tomography of the abdomen and pelvis revealed massive hepatic infarction, 11 × 10 × 15 cm, of the right lobe of the liver. Her transaminases peaked at alanine transferase of 2,863 IU/L and aspartate transferase of 2,732 IU/L. She received supportive multidisciplinary intensive care, and LFTs returned to normal by postoperative day 20. Conclusion  Hepatic infarction is an extraordinarily rare complication of pre-eclampsia. Early recognition and prompt multidisciplinary management are vital to prevent catastrophic bleeding, hepatic failure, and death.

Published
2019
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21. A hybrid effectiveness-implementation trial of an evidence-based exercise intervention for breast cancer survivors.

Author

Beidas RS, Paciotti B, Barg F, Branas AR, Brown JC, Glanz K, DeMichele A, DiGiovanni L, Salvatore D, and Schmitz KH

Subjects
Adult, Aged, Body Image, Breast Neoplasms physiopathology, Breast Neoplasms psychology, Evidence-Based Medicine, Exercise physiology, Exercise psychology, Female, Humans, Integrative Medicine economics, Middle Aged, Muscle Strength, Muscle, Skeletal physiology, Patient Selection, Program Development, Program Evaluation, Referral and Consultation, Attitude of Health Personnel, Breast Neoplasms rehabilitation, Integrative Medicine organization & administration, Lymphedema therapy, Resistance Training adverse effects, Resistance Training economics, Resistance Training organization & administration, Survivors psychology
Abstract

Background: The primary aims of this hybrid Type 1 effectiveness-implementation trial were to quantitatively assess whether an evidence-based exercise intervention for breast cancer survivors, Strength After Breast Cancer, was safe and effective in a new setting and to qualitatively assess barriers to implementation., Methods: A cohort of 84 survivors completed measurements related to limb volume, muscle strength, and body image at baseline, 67 survivors completed measurements 12 months later. Qualitative methods were used to understand barriers to implementation experienced by referring oncology clinicians and physical therapists who delivered the program., Results: Similar to the efficacy trial, the revised intervention demonstrated safety with regard to lymphedema, and led to improvements in lymphedema symptoms, muscular strength, and body image. Comparison of effects in the effectiveness trial to effects in the efficacy trial revealed larger strength increases in the efficacy trial than in the effectiveness trial (P < .04), but few other differences were found. Qualitative implementation data suggested significant barriers around intervention characteristics, payment, eligibility criteria, the referral process, the need for champions (ie, advocates), and the need to adapt during implementation of the intervention, which should be considered in future dissemination and implementation efforts., Conclusions: This trial successfully demonstrated that a physical therapy led strength training program for breast cancer survivors can be implemented in a community setting while retaining the effectiveness and safety of the clinical trial. However, during the translation process, strategies to reduce barriers to implementation are required. This new program can inform larger scale dissemination and implementation efforts., (© The Author 2014. Published by Oxford University Press. All rights reserved. For Permissions, please e-mail: journals.permissions@oup.com.)

Published
2014
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