Publications by authors named "Ioanna Athanassaki"

11 Publications

  • Page 1 of 1

Prolonged Untreated Disease and Limited English Proficiency: A Case of Van Wyk-Grumbach Syndrome.

J Adolesc Health 2020 Nov 18. Epub 2020 Nov 18.

Section of Adolescent Medicine and Sports Medicine, Department of Pediatrics, Baylor College of Medicine, Houston, Texas.

Children from families with limited English proficiency have worse health outcomes than those from English-speaking families, likely related to the impact of a variety of social determinants on an increased risk of delayed presentation, diagnosis, and loss to follow-up. Van Wyk-Grumbach syndrome (VWGS) is a result of prolonged untreated primary hypothyroidism and early diagnosis of hypothyroidism is critical to prevent VWGS from developing. Whether social determinants of health, particularly limited English proficiency, impact the development, diagnosis, and treatment of VWGS has not been discussed previously. Here, we describe the case of an adolescent girl diagnosed with VWGS whose primary caregiver is foreign-born and with limited English proficiency, explore factors that may have placed her at increased risk for delayed presentation of VWGS, and discuss ongoing challenges of her disease management. We briefly review the pathophysiology of VWGS, emphasize the importance of being sensitive to this atypical presentation of hypothyroidism, and explore the intersections of this case with limited English proficiency status.
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http://dx.doi.org/10.1016/j.jadohealth.2020.10.016DOI Listing
November 2020

Integrated DNA and RNA sequencing reveals targetable alterations in metastatic pediatric papillary thyroid carcinoma.

Pediatr Blood Cancer 2021 Jan 3;68(1):e28741. Epub 2020 Oct 3.

Texas Children's Cancer Center, Department of Pediatrics, Baylor College of Medicine, Houston, Texas.

Background: Pediatric papillary thyroid carcinoma (PTC) is clinically and biologically distinct from adult PTC. We sequenced a cohort of clinically annotated pediatric PTC cases enriched for high-risk tumors to identify genetic alterations of relevance for diagnosis and therapy.

Methods: Tumor DNA and RNA were extracted from FFPE tissue and subjected to next-generation sequencing (NGS) library preparation using a custom 124-gene hybridization capture panel and the 75-gene Archer Oncology Research Panel, respectively. NGS libraries were sequenced on an Illumina MiSeq.

Results: Thirty-six pediatric PTC cases were analyzed. Metastases were frequently observed to cervical lymph nodes (29/36, 81%), with pulmonary metastases less commonly found (10/36, 28%). Relapsed or refractory disease occurred in 18 patients (18/36, 50%). DNA sequencing revealed targetable mutations in 8 of 31 tumors tested (26%), most commonly BRAF p.V600E (n = 6). RNA sequencing identified targetable fusions in 13 of 25 tumors tested (52%): RET (n = 8), NTRK3 (n = 4), and BRAF. Mutually exclusive targetable alterations were discovered in 15 of the 20 tumors (75%) with both DNA and RNA analyzed. Fusion-positive PTC was associated with multifocal disease, higher tumor staging, and higher American Thyroid Association risk levels. Both BRAF V600E mutations and gene fusions were correlated with the presence of cervical metastases.

Conclusions: Targetable alterations were identified in 75% of pediatric PTC cases with both DNA and RNA evaluated. Inclusion of RNA sequencing for detection of fusion genes is critical for evaluation of these tumors. Patients with fusion-positive tumors were more likely to have features of high-risk disease.
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http://dx.doi.org/10.1002/pbc.28741DOI Listing
January 2021

Diabetes Curriculum for Pediatric Endocrine Fellowship Utilizing Modified Team-Based Learning.

MedEdPORTAL 2020 08 13;16:10948. Epub 2020 Aug 13.

Assistant Professor, Department of Pediatrics, Baylor College of Medicine.

Introduction: While type 1 diabetes is frequently encountered clinically in pediatric endocrinology fellowship training, other types of diabetes may only be encountered in educational settings. Adult learners learn best through knowledge application, but to date there are no published curricula utilizing application educational strategies for all forms of diabetes.

Methods: We utilized a team-based learning (TBL) approach to create four modules on different types of diabetes: type 1 diabetes, type 2 diabetes, neonatal diabetes, and maturity-onset diabetes of the young. We divided our fellows (all training years, = 11) into two teams and delivered four separate, 90-minute sessions. To emphasize the application of knowledge, we modified the format to combine the readiness assurance test (RAT) with application problem (APP) questions. The combined RAT/APP questions were answered by individuals and teams. We analyzed scores from individual and team tests and evaluated each module. Additionally, we acquired subjective data from the fellows regarding their experiences.

Results: Teams outperformed individuals on the tests, as expected (94% vs. 76% correct questions, respectively). All the fellows agreed that the sessions should be included permanently. Additionally, all agreed the sessions helped them apply knowledge. Subjectively, the fellows were very engaged and lively during the sessions and felt the sessions were feasible as implemented.

Discussion: TBL can be a valuable educational strategy to increase the application of knowledge for diabetes in pediatric endocrinology fellows. Future studies examining the use of this strategy to increase critical thinking skills and knowledge retention in the long-term would be useful.
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http://dx.doi.org/10.15766/mep_2374-8265.10948DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7431187PMC
August 2020

Response to Lenvatinib in Children with Papillary Thyroid Carcinoma.

Thyroid 2018 11 16;28(11):1450-1454. Epub 2018 Oct 16.

1 Department of Pediatrics, Division of Hematology/Oncology, Texas Children's Cancer Center; Division of Endocrinology; Baylor College of Medicine, Texas Children's Hospital, Houston, Texas.

Background: Papillary thyroid carcinoma (PTC) is the most common thyroid malignancy in children and adolescents. Infrequently, children with PTC may present with or develop disease not amenable to surgery or radioactive iodine (RAI), and systemic therapy may be an option. Lenvatinib is an oral tyrosine kinase inhibitor that is approved by the Food and Drug Administration for the treatment of adults with locally recurrent or metastatic, progressive, RAI-refractory well-differentiated thyroid carcinoma. The effect of lenvatinib in children with PTC has not been reported.

Patient Findings: Three children with metastatic PTC not amenable or refractory to RAI who responded to lenvatinib are reported. All of them developed respiratory distress requiring oxygen caused by extensive bilateral metastatic pulmonary disease. The first patient is a 14-year-old female who was initially treated with sorafenib for extensive PTC not amenable to upfront surgery or RAI. She had progressive pulmonary disease after five months, and was subsequently treated with oral lenvatinib (14 mg/m/day). She was weaned to room air after eight weeks. The second patient is a 15-year-old male who was treated with lenvatinib (14 mg/m/day) for iodine non-avid diffuse pulmonary disease after initial total thyroidectomy and cervical lymph node dissection. He was weaned off oxygen in six weeks. The third patient is a five-year-old male who was treated with lenvatinib (14 mg/m/day) for pulmonary disease progression 24 months after treatment with total thyroidectomy, cervical lymph node dissection, and RAI treatment. He was weaned off oxygen one day after starting lenvatinib. Two of the patients required dose adjustments secondary to proteinuria. Otherwise, all patients tolerated lenvatinib well. The first two patients remained clinically stable on lenvatinib 23 months and 11 months after initiation of therapy, respectively, and the third patient transitioned to a tumor-specific targeted therapy after one month.

Summary: Three pediatric patients are reported with metastatic PTC not amenable or refractory to RAI who achieved a response on lenvatinib.

Conclusion: Lenvatinib therapy is well tolerated and demonstrated clinical activity in children with advanced PTC. Lenvatinib should be considered in children with PTC that is refractory or not amenable to conventional management.
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http://dx.doi.org/10.1089/thy.2018.0064DOI Listing
November 2018

Considerations for total thyroidectomy in an adolescent with mutation.

Ther Adv Endocrinol Metab 2018 Sep 4;9(9):299-301. Epub 2018 Jul 4.

Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.

Individuals with PTEN Hamartoma Tumor Syndrome (PHTS) are at greatly increased risk for developing well-differentiated thyroid cancer. Specific circumstances in which total thyroidectomies should be considered have not been defined. A 14-year-old macrocephalic female with history of developmental delay and lipoma over her left flank presented with neck swelling and was found have multinodular goiter and auto-immune thyroiditis. Asymptomatic tracheal narrowing was also detected on her initial diagnostic imaging. Later on, she developed positional dyspnea during sleep. Genetic testing revealed a heterozygous pathogenic variant in the gene (c.463T>A). A total thyroidectomy was performed. In addition to addressing the symptomology in our case, a total thyroidectomy also fortuitously eliminated the thyroid cancer risk. This case spurred us on further to identify specific clinical scenarios where total thyroidectomy may be considered as a true prophylactic measure to manage thyroid cancer risk in PHTS patients.
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http://dx.doi.org/10.1177/2042018818784517DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6116769PMC
September 2018

Perioperative determinants of transient hypocalcemia after pediatric total thyroidectomy.

J Pediatr Surg 2017 May 27;52(5):684-688. Epub 2017 Jan 27.

Division of Pediatric Surgery, Department of Surgery, Texas Children's Hospital and Michael E. DeBakey Department of Surgery, Baylor College of Medicine, Houston, TX 77030. Electronic address:

Purpose: We seek to identify risk factors associated with hypocalcemia after pediatric total thyroidectomy.

Methods: We retrospectively reviewed patients younger than 21years undergoing total thyroidectomy between January 2002 and January 2016. We defined hypocalcemia as any serum calcium <8mg/dl or ionized calcium <1.0mmol/L. Perioperative risk factors were identified through multivariate logistic regression.

Results: Ninety-one children underwent total thyroidectomy. The average age was 13.7±4.4years, and 77% were female. Transient hypocalcemia was diagnosed in 34% (n=31) of patients. There was one case of permanent hypoparathyroidism. Predictors of transient hypocalcemia included age (OR 0.87, 95% CI 0.8-0.97, p=0.01), lymphadenectomy (OR 6.6, 95% CI 1.7-31.6, p=0.01), and hyperthyroidism (OR 13.3, 95% CI 1.3-1849, p=0.03). Patients with malignancy undergoing central (OR 7.1, 95% CI 1.5-33.4, p=0.01) or central plus lateral lymphadenectomy (OR 6.33, 95% CI 1.0-40.1, p=0.05) had significantly increased risk for transient hypocalcemia. Malignancy, MEN2A/B, goiter, preoperative calcium supplementation, incidental parathyroid removal, and postoperative PTH <15pg/ml were not associated with transient hypocalcemia.

Conclusions: Younger age, hyperthyroidism, and concomitant lymphadenectomy during total thyroidectomy increase risk of developing transient hypocalcemia. Malignant cases with central or central plus lateral lymphadenectomy are also at increased risk. Aggressive perioperative management of hypocalcemia should be initiated in patients with these risk factors.

Level Of Evidence: 2b.
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http://dx.doi.org/10.1016/j.jpedsurg.2017.01.011DOI Listing
May 2017

Successful endoscopic ablation of a pyriform sinus fistula in a child: case report and literature review.

Pediatr Surg Int 2016 Jun 28;32(6):623-7. Epub 2016 Jan 28.

Division of Pediatric Surgery, Michael E. DeBakey Department of Surgery, Texas Children's Hospital, Baylor College of Medicine, 6701 Fannin Street, Suite 1210, Houston, Texas, 77030, USA.

Recurrent thyroid infections are rare in children. When present, patients should be evaluated for anatomic anomalies such as pyriform sinus fistulae. We describe a 12-year-old girl with history of recurrent thyroid abscesses secondary to a pyriform sinus fistula and managed with concurrent endoscopic ablation and incision and drainage.
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http://dx.doi.org/10.1007/s00383-016-3868-3DOI Listing
June 2016

Integrating Molecular Testing in the Diagnosis and Management of Children with Thyroid Lesions.

Pediatr Dev Pathol 2016 Mar-Apr;19(2):94-100. Epub 2015 Sep 14.

1 Department of Pathology and Immunology, Baylor College of Medicine, Houston, TX, USA.

Thyroid nodules occur in 1-2% of children, and identifying which nodules are malignant is often challenging. Cytologic evaluation facilitates the diagnosis of thyroid lesions (TLs), but in 10-40% of cases the interpretation is indeterminate. Patients with indeterminate diagnoses are often treated with hemithyroidectomy followed by completion thyroidectomy, if cancer is found in the initial specimen. Exposing patients to multiple surgeries increases costs and morbidity. The American Thyroid Association states that a combination of molecular markers is likely to optimize the management of patients with indeterminate cytology. However, few studies have addressed the molecular alterations present in pediatric TL. Twenty-seven thyroid carcinomas from patients 10 to 19 years of age were tested for alterations common in adult TL, including BRAF V600E mutation, RET fusions, and TERT promoter mutations. Mutation-negative cases were subsequently analyzed with a next-generation sequencing (NGS) mutation panel to search for additional targets. Histologic diagnoses included 12 classic papillary thyroid carcinomas (PTCs), 13 follicular variant PTCs, 1 medullary thyroid carcinoma, and 1 follicular carcinoma. Fourteen cases showed lymph node involvement, and 13 cases demonstrated lymphovascular invasion. The BRAF V600E mutation was detected in 10/27 cases, and RET fusions were detected in 6/27 cases. No TERT promoter mutations were identified in any of the cases. The NGS panel revealed additional RET and CTNNB1 pathogenic missense mutations. Our results demonstrate that molecular abnormalities are common in pediatric TLs and suggest that incorporation of molecular testing will be helpful in optimizing patient management.
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http://dx.doi.org/10.2350/15-05-1638-OA.1DOI Listing
June 2016

Total parenteral nutrition associated with severe insulin resistance following hematopoietic stem cell transplantation in patients with hemophagocytic syndrome: report on two cases.

Pediatr Diabetes 2010 Feb 30;11(1):70-3. Epub 2009 Apr 30.

Department of Pediatrics, Division of Diabetes and Endocrinology, Texas Children's Hospital, Baylor College of Medicine, Houston, TX, USA.

Hyperglycemia secondary to total parenteral nutrition (TPN) is reported in adults. In addition, insulin resistance and type 2 diabetes as late consequences of hematopoietic stem cell transplantation (HSCT) are well described. Both situations are generally manageable with traditional insulin dosing. We present two children who developed severe insulin resistance requiring intravenous insulin therapy at doses up to 13 units/kg/h. Both children were on TPN after undergoing HSCT for hemophagocytic syndrome. We believe that our report will alert physicians to such a condition and help with early recognition that is a key to successful intervention. These cases aim to increase awareness and stimulate research to unravel the associated underling mechanisms.
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http://dx.doi.org/10.1111/j.1399-5448.2009.00520.xDOI Listing
February 2010

Rapid resolution of consumptive hypothyroidism in a child with hepatic hemangioendothelioma following liver transplantation.

Ann Clin Lab Sci 2007 ;37(3):280-4

Children's Nutrition Research Center, Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA.

We report a unique case of a 3-mo-old female with consumptive hypothyroidism and liver hemangioendothelioma who required pharmacological doses of thyroid hormones and was cured following liver transplantation. Liver hemangioendotheliomas are capable of producing an excess of the thyroid hormone inactivating enzyme, type-3 iodothyronine deiodinase. The increased tumoral enzyme activity leads to rapid degradation of thyroid hormones, resulting in consumptive hypothyroidism. Review of similar cases indicated variable outcomes. We focus on our patient's clinical course and describe in detail the thyroid hormone replacement therapy and a unique outcome of this rare type of hypothyroidism. This first example of a prompt and complete resolution of consumptive hypothyroidism in an infant after liver transplantation confirms the concept and the reversibility of consumptive hypothyroidism and provides novel insights into the rapidity of response of the infant's hypothalamic-pituitary-thyroid axis to thyroid hormone replacement.
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October 2007

High false-positive rate of human immunodeficiency virus rapid serum screening in a predominantly hispanic prenatal population.

J Perinatol 2004 Dec;24(12):743-7

Obstetrics and Gynecology Department, Baylor College of Medicine, Houston, TX, USA.

Objective: To identify the characteristics of the gravidas delivering at our birthing center that place them at risk for false-positive human immunodeficiency virus (HIV) enzyme-linked immunosorbent assay (ELISA).

Study Design: The medical records of all rapid HIV-ELISA-positive gravidas that delivered at our hospital between January 2000 and October 2001 were retrieved, and information was gathered regarding maternal demographics. The results of the Western blot tests were also retrieved and correlated to the ELISA results, across varying maternal characteristics. chi(2), Student's t-test and multivariate analysis were performed, as appropriate, using the SAS software; statistical significance was denoted by p<0.05.

Results: A total of 69 patients had a positive rapid HIV-ELISA out of 9,781 deliveries. Of those, 26 were confirmed as HIV infected by Western blot (overall HIV prevalence: 0.27%, ELISA-positive predictive value: 37.7%). The subgroup prevalence of HIV and positive predictive value of ELISA were 1.53 and 75% among Caucasians; 2.43 and 82.6% among African-Americans; and 0.05 and 9.8% among Hispanics, respectively (p<0.05 for the comparisons between Hispanics and non-Hispanics only). A history of multiple (> or =5 lifetime) sexual partners was elicited in the majority of HIV-infected patients.

Conclusions: The positive predictive value of rapid HIV-ELISA during pregnancy varies widely, depending on maternal race/ethnicity and sexual behavior. The routine disclosure of rapid intrapartum HIV serum screening results prior to Western blot confirmation should be avoided in very low-risk populations.
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http://dx.doi.org/10.1038/sj.jp.7211184DOI Listing
December 2004