Julia Donner

All Publications

• Composition and Priorities of Multidisciplinary Pediatric Thyroid Programs: A Consensus Statement. Thyroid : official journal of the American Thyroid Association Kothari, R., Donner, J. R., Balakrishnan, K., Hartman, G., Alazraki, A., Antal, Z., Bauer, A., Chelius, D., Cherella, C., Dahl, J. P., Dimachkieh, A., Fox, L. A., Helmig, S., Jiang, W., Kazahaya, K., Laetsch, T. W., Lodish, M., Mahajan, P., Parsons, L., Prickett, K., Quintanilla-Dieck, L., Rastatter, J., Rothstein, D. H., Simons, J., Sheyn, A., Wagner, A., Waguespack, S. G., Wasserman, J. D., Wassner, A. J., Seeley, H., Meister, K. D. 2025

  Abstract

  Background: The incidence of pediatric thyroid cancer has been increasing, and care varies due to socioeconomic disparities or differing practice patterns. Clinical guidelines call for care in multidisciplinary teams to minimize variance and provide protocols. Based on expert opinion, we hope to describe the form and function of such multidisciplinary teams for pediatric thyroid programs. Methods: A modified Delphi method to reach consensus statements over two rounds. Twenty-one experts with varying backgrounds responded to each statement on a 9-point Likert scale. Upon completion of the survey, the panel reviewed and shared the results and comments from participants and modified the statements accordingly. This process was repeated such that statements reached consensus, were deemed no consensus, or had no change in the mean. Results: There was an 88% and 83% completion rate for Rounds 1 and 2, respectively. A consensus was observed that there is a distinct definable model of care for pediatric thyroid patients. No consensus was reached for the age range of patients, but programs should care for children with medullary thyroid cancer, differentiated thyroid cancer, and patients with genetic predisposition syndromes. A comprehensive team includes, but is not limited to, a thyroid surgeon, a pediatric endocrinologist, a high-volume fine-needle aspiration (FNA) proceduralist, an oncologist, a nuclear medicine physician, a pediatric pathologist, a pediatric radiologist, and a nurse coordinator. Necessary support services involve care coordination, access to a multidisciplinary tumor board, ability to perform ultrasound-guided FNA, and access to molecular testing. The panel emphasized cross-institutional collaborative research prioritizing guidelines development, disease-specific outcomes, treatment toxicity, and the molecular landscape of thyroid cancer. Conclusions: These consensus statements can be beneficial in improving multidisciplinary care, by describing which elements of pediatric thyroid programs should be consistent across institutions. Overall, the panel agreed that pediatric thyroid centers should provide integrated care with defined team members, services, resources, and research priorities. This model has the potential to standardize various aspects of clinical care and enhance our ability to study patient outcomes, improve health care delivery, and increase scholarly collaboration.

  View details for DOI 10.1089/thy.2024.0496

  View details for PubMedID 39950999

• Long-term Treatment of Pediatric Metastatic Papillary Thyroid Cancer With Lenvatinib. JCEM case reports Donner, J. R., DeNardo, B., Topor, L. S. 2024; 2 (2): luad175

  Abstract

  Papillary thyroid carcinoma (PTC) is the most common pediatric thyroid malignancy and incidence is increasing. Standard treatment for PTC in pediatric patients includes surgical intervention, suppression of TSH with levothyroxine, and radioactive iodine therapy (RAI) in select patients. In the setting of metastatic PTC or PTC refractory to RAI therapy, tyrosine kinase inhibitors (TKIs), such as lenvatinib, may be used. Until recently, experience with these targeted agents were largely limited to adult patients with progressive or refractory PTC. More recently, increased experience with TKI therapy has been reported in the pediatric population, with case reports and small series describing short-term TKI use. We report the case of a 15-year-old girl with RAI-refractory metastatic PTC who achieved stable disease with long-term lenvatinib treatment for more than 5.5 years. Prospective, longitudinal studies of TKIs in RAI-refractory pediatric PTC are needed.

  View details for DOI 10.1210/jcemcr/luad175

  View details for PubMedID 38283726

  View details for PubMedCentralID PMC10821759

• Increased Incidence and Severity of New Graves Disease Diagnoses in Youth During the COVID-19 Pandemic. Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists Donner, J. R., Has, P., Topor, L. S. 2023; 29 (5): 349-352

  Abstract

  Graves disease (GD), an autoimmune disease of the thyroid, is likely caused by a combination of genetic predisposition and environmental triggers. Recent data suggest that COVID-19 may be associated with the development of autoimmune disease. The aim of this study was to assess the incidence and characteristics of new GD diagnoses in youth prior to and during the COVID-19 pandemic.We performed a retrospective chart review of all new GD diagnoses in patients aged 0 to 18 years diagnosed at a tertiary care pediatric hospital between January 1, 2018, and December 31, 2021.Over a 4-year period, 51 patients had been diagnosed with new-onset GD. We observed an increased incidence in new-onset GD during the pandemic compared with that in the 2 prior years (P = .01). During the pandemic period, heart rates (P = .03) as well as systolic (P = .005) and diastolic (P = .01) blood pressures were higher at initial evaluation, patients more frequently reported palpitations (P = .03) and tremors (P = .04), and an increased proportion of patients required beta-blockade treatment at diagnosis (P = .002). The percentage of patients requiring thionamide treatment and thionamide doses had been similar over time.We identified an increase in new-onset pediatric GD diagnoses during the COVID-19 pandemic. In addition, youths had increased severity of symptoms and more frequently required beta-blockade treatment at diagnosis. Further study of the relationship between COVID-19 and autoimmune thyroid disease is needed.

  View details for DOI 10.1016/j.eprac.2023.01.011

  View details for PubMedID 36736538

  View details for PubMedCentralID PMC9892249

• A Case of Severe Neonatal Hypocalcemia Treated With Continuous Enteral Calcium. AACE clinical case reports Donner, J. R., Ganta, A., Polikoff, L., Snelling, L., Serrano-Gonzalez, M. 2023; 9 (3): 85-88

  Abstract

  Hypocalcemia is a common, treatable cause of neonatal seizures. The rapid repletion of calcium is essential for restoring normal calcium homeostasis and resolving seizure activity. The accepted approach to administer calcium to a hypocalcemic newborn is via peripheral or central intravenous (IV) access.We discuss a case of a 2-week-old infant who presented with hypocalcemia and status epilepticus. The etiology was determined to be neonatal hypoparathyroidism secondary to maternal hyperparathyroidism. Following an initial dose of IV calcium gluconate, the seizure activity abated. However, stable peripheral intravenous access could not be maintained. After weighing the risks and benefits of placing a central venous line for calcium replacement, it was decided to use continuous nasogastric calcium carbonate at a rate of 125 mg of elemental calcium/kg/d. Ionized calcium levels were used to guide the course of the therapy. The infant remained seizure-free and was discharged on day 5 on a treatment regimen that included elemental calcium carbonate, calcitriol, and cholecalciferol. He remained seizure free since discharge and all medications were discontinued by 8 weeks of age.Continuous enteral calcium is an effective alternate therapy for restoration of calcium homeostasis in a neonate presenting with hypocalcemic seizures in the intensive care unit (ICU).We propose that continuous enteral calcium be considered as an alternative approach for calcium repletion in neonatal hypocalcemic seizures, one that avoids the potential complications of peripheral or central IV calcium administration.

  View details for DOI 10.1016/j.aace.2023.04.003

  View details for PubMedID 37251976

  View details for PubMedCentralID PMC10213609

• Documented Visio-Vestibular Examination and Anticipatory Guidance for Pediatric Concussion Patients. Pediatric emergency care Donner, J. R., Corwin, D. J., Master, C. L., Zonfrillo, M. R. 2023; 39 (3): 179-183

  Abstract

  Pediatric concussion patients are frequently managed in the primary care or acute care settings. Optimal care includes vision and vestibular assessments, as well as targeted anticipatory guidance for return to school and activity. We aimed to examine clinical practices related to the evaluation and management of concussion patients at children's hospital-based emergency department (ED) and primary care/urgent care settings.We conducted a retrospective chart review of children aged 5 to 18 years who presented to either the ED or the primary and urgent care settings during a 2-year period. We evaluated 2 concussion management practices: (1) completion of the visio-vestibular examination and (2) provision of anticipatory guidance and follow-up.Among patients seen in the ED (n = 500), only 12.4% had at least 1 component of the visio-vestibular examination performed compared with 51.3% of patients (n = 78) in the primary and urgent care settings ( P < 0.05). Regarding anticipatory guidance, 86.2% of ED patients were advised to engage in cognitive rest, and 94.2% were told to physically rest compared with 67.9% and 72.8% in the primary and urgent care settings ( P < 0.05), respectively. Follow-up recommendations were provided similarly for both settings (92.0% in the ED and 85.9% in the primary/urgent care, P = 0.077).Although most pediatric concussion patients receive instructions acutely about cognitive and physical rest, there is opportunity to increase the frequency of visio-vestibular testing in both the ED and the primary care settings. Future efforts should focus on strategies to consistently optimize visio-vestibular assessment given its value in concussion diagnosis.

  View details for DOI 10.1097/PEC.0000000000002845

  View details for PubMedID 36109009

• Pen Foreign Body Ingestion Mimicking Crohn's Disease in a Pediatric Patient. Rhode Island medical journal (2013) Donner, J. R., Ding, A., Herzlinger, M., Subedi, S., Alverson, B. 2022; 105 (4): 41-43

  Abstract

  Foreign body ingestion is common in pediatrics, particularly in children with psychiatric illness. Foreign bodies present for extended periods of time can trigger a local inflammatory reaction causing weight loss, abdominal pain, and elevated inflammatory markers, mimicking inflammatory bowel disease (IBD). We report a case of intentional pen ingestion in a 13-year-old, whose clinical presentation with elevated inflammatory markers and terminal ileitis suggested on imaging was initially suspicious for Crohn's disease but was found on colonoscopy to be due to foreign body reaction from ingestion of a pen.

  View details for PubMedID 35476735

• 'Give Me a Boost!' Pediatric Car Safety Seat Program. Rhode Island medical journal (2013) Donner, J. R., Quinn, V., Cheli, A., Ottiano, C., Lewis, C. 2022; 105 (3): 67-69

  View details for PubMedID 35349626

• Neonate with Seizures After Consuming Star Anise Tea. Rhode Island medical journal (2013) Donner, J., Ruest, S. 2021; 104 (8): 8-10

  Abstract

  Chinese Star Anise (Illicium verum) is a common spice used in many cultures as an herbal treatment for infant colic.1,2 Often, it has been found to be contaminated with Japanese Star Anise (Illicium anisatum) or is used in high doses resulting in neurotoxicity and gastrointestinal disturbances.1,3,4 Here we present a case of a previously healthy 2-week-old male who was evaluated in the emergency department for abnormal movements, irritability, and emesis after ingestion of star anise tea for the treatment of colic.

  View details for PubMedID 34582506

• Stable bone density in adolescents with severe growth hormone deficiency after six months off rhGH. Bone Schweizer, R., Donner, J., von Lukowicz, B., Bauer, J. L., Binder, G. 2021; 142: 115771

  Abstract

  Severe growth hormone deficiency causes lean body mass loss in male adolescents and increased fat mass in both sexes. The changes appear after a 6 month GH pause.The aim was to examine bone density and structure changes in adolescents with severe GHD during a 6-month rhGH treatment interruption.In total, 113 adolescents (20 females) paused rhGH treatment for 6 months at near-final height, and they were retested with arginine-GHRH challenge and basal IGF-1. Severe GHD was diagnosed in 19 individuals (5 females, GH peak <16 ng/ml and IGF-1 < -1.9 SDS) and excluded in 94 (15 females). Bone density and structure were measured by pQCT of the forearm and DXA of the total body at cessation of rhGH and 6 months later.In severe adolescent GHD (sGHD) patients, trabecular density (mg/cm3) decreased from 214 to 202 (p < 0.01); changes in the adolescents with normal test results (tGHD) were from 221 to 214 (p < 0.05). Cortical density (mg/cm3) increased from 1077 to 1099 (p < 0.01) in sGHD patients and from 1060 to 1082 in tGHD patients (p < 0.001). The strength strain index (mm3) showed no significant changes in sGHD patients (306 to 307) but changed from 302 to 315 in tGHD patients (p < 0.05). Total bone area (mm2) shifted from 145.1 to 145.2 in sGHD patients and from 153 to 156 in tGHD patients. Total body aBMD (g/cm2) increased in both groups: from 1.10 to 1.12 in sGHD patients and from 1.11 to 1.14 in tGHD patients (p < 0.01). All bone measurements remained within the reference ranges, and there were no differences between sGHD and tGHD patients.During a 6-month pause of rhGH treatment, the bone structure and density of adolescents with sGHD did not show changes implying harm. Routine retesting of adolescents, including 6 months without GH, is unlikely to be detrimental to the bone.

  View details for DOI 10.1016/j.bone.2020.115771

  View details for PubMedID 33246146

• Changes in body composition in male adolescents with childhood-onset GH deficiency during transition. Clinical endocrinology Binder, G., Donner, J., Becker, B., Bauer, J. L., Schweizer, R. 2019; 91 (3): 432-439

  Abstract

  Restarting rhGH in adolescents with childhood-onset (CO-) GHD is usually based on GH retest, IGF-1, additional pituitary hormone deficiencies, pituitary morphology and history. Short-term changes in body composition in adolescents with CO-GHD when off rhGH may contribute to the identification of those in need of treatment continuation.This is a longitudinal single-centre study.The body composition of 90 male adolescents with low-likelihood severe GHD of adolescence was measured by DXA at the time of rhGH discontinuation and 6 months thereafter. At diagnosis, mean age was 5.4 years, height was -2.68 SDS and stimulated GH peak was 5.1 ng/mL. RhGH treatment was stopped at 16.7 years at near-final height of -0.44 SDS. The adolescents were re-examined after 3 months off rhGH using both IGF-1 and GHRH-arginine tests. Severe GHD of adolescence was defined both by stimulated GH < 16 ng/mL and by IGF-1 < -1.90 SDS.Males with severe GHD of adolescence (n = 8) gained more relative and absolute fat mass and lost significantly more relative lean body mass after 6 months off rhGH than healthy individuals (n = 82; P < 0.001). The sum of absolute fat mass gain and lean body mass loss (=body composition changes score; BCC score) correlated highly with the GH peak (R = 0.17; P < 0.001). A BCC score >7.0 kg was 88% sensitive and 94% specific for detecting severe GHD of adolescence (AUC = 0.975).Short-term body composition changes when off rhGH are good clinical markers of severe GHD in male adolescents. The novel BBC score is an aggregate of these changes.

  View details for DOI 10.1111/cen.14041

  View details for PubMedID 31116442

• A Drosophila model for mito-nuclear diseases generated by an incompatible interaction between tRNA and tRNA synthetase. Disease models & mechanisms Holmbeck, M. A., Donner, J. R., Villa-Cuesta, E., Rand, D. M. 2015; 8 (8): 843-54

  Abstract

  Communication between the mitochondrial and nuclear genomes is vital for cellular function. The assembly of mitochondrial enzyme complexes, which produce the majority of cellular energy, requires the coordinated expression and translation of both mitochondrially and nuclear-encoded proteins. The joint genetic architecture of this system complicates the basis of mitochondrial diseases, and mutations both in mitochondrial DNA (mtDNA)- and nuclear-encoded genes have been implicated in mitochondrial dysfunction. Previously, in a set of mitochondrial-nuclear introgression strains, we characterized a dual genome epistasis in which a naturally occurring mutation in the Drosophila simulans simw(501) mtDNA-encoded transfer RNA (tRNA) for tyrosine (tRNA(Tyr)) interacts with a mutation in the nuclear-encoded mitochondrially localized tyrosyl-tRNA synthetase from Drosophila melanogaster. Here, we show that the incompatible mitochondrial-nuclear combination results in locomotor defects, reduced mitochondrial respiratory capacity, decreased oxidative phosphorylation (OXPHOS) enzyme activity and severe alterations in mitochondrial morphology. Transgenic rescue strains containing nuclear variants of the tyrosyl-tRNA synthetase are sufficient to rescue many of the deleterious phenotypes identified when paired with the simw(501) mtDNA. However, the severity of this defective mito-nuclear interaction varies across traits and genetic backgrounds, suggesting that the impact of mitochondrial dysfunction might be tissue specific. Because mutations in mitochondrial tRNA(Tyr) are associated with exercise intolerance in humans, this mitochondrial-nuclear introgression model in Drosophila provides a means to dissect the molecular basis of these, and other, mitochondrial diseases that are a consequence of the joint genetic architecture of mitochondrial function.

  View details for DOI 10.1242/dmm.019323

  View details for PubMedID 26035388

  View details for PubMedCentralID PMC4527286