Publications by authors named "Isaza A"

Objective: Levothyroxine (LT) monotherapy is the current recommended approach for treating pediatric patients post-total thyroidectomy (TT) based on the assumption that peripheral conversion of thyroxine (T) to triiodothyronine (T) normalizes thyroid hormone levels. In adults, approximately 15% of post-TT patients on LT4 monotherapy have altered T:T ratios with ongoing debate in regard to the clinical impact with respect to health-related quality of life (hrQOL). The ability to normalize T and T levels on LT monotherapy for pediatric patients' post-TT is important but not previously described.

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Article Synopsis
  • MCT8 deficiency is a rare, X-linked disorder caused by mutations affecting thyroid hormone transport, leading to severe developmental delays and motor disabilities due to insufficient thyroid hormone in the brain.
  • Diagnosis and treatment of MCT8 deficiency face major challenges, including a lack of awareness among healthcare professionals, resulting in misdiagnoses and delays, as well as complex symptoms that may not surface until months after birth.
  • Multidisciplinary care is essential for optimal patient support, and while there are no specific treatments available yet, early diagnosis can help improve access to supportive care and developing interventions to enhance the quality of life for patients and their families.
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Receptor tyrosine kinase (RTK) fusions of , and are enriched among pediatric thyroid cancer patients with metastatic and persistent disease, and their oncoproteins represent attractive drug targets. We performed RNA-sequencing in a papillary thyroid cancer (PTC) lacking other frequent driver alterations. We report a novel RTK fusion, -insulin-like growth factor 1 receptor gene (), in a 17-year-old female patient with angioinvasive follicular variant PTC.

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  • The study examines the American Thyroid Association's guidelines for selective prophylactic central neck dissection (pCND) in children with papillary thyroid carcinoma (PTC) by looking at tumor genetics as a potential way to determine need for surgery.
  • Researchers analyzed data from pediatric patients who had post-thyroidectomy oncogene testing and found that tumors with low-invasive alterations showed significantly lower rates of lymph node involvement compared to those with high-invasive alterations.
  • The findings suggest that understanding the genetic profile of PTC tumors can help identify pediatric patients who may not need aggressive surgical intervention, thereby reducing unnecessary procedures.
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Introduction: Childhood cancer survivors (CCS) are at risk for radiotherapy (RT) late effects, including second malignancies. Optimal screening for differentiated thyroid cancer (DTC) in CCS post-RT remains controversial. We assessed the outcome of thyroid ultrasound (US) surveillance in CCS exposed to RT.

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Context: The American Thyroid Association (ATA) Pediatric Guidelines recommend patients not receive radioactive iodine therapy (RAIT) for differentiated thyroid cancer (DTC) confined to the thyroid. Since publication, there is ongoing concern whether withholding RAIT will result in a lower rate of remission.

Objective: This study explores whether ATA low-risk patients treated with and without RAIT achieved similar remission rates.

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  • - DICER1 is a crucial enzyme that helps produce mature microRNAs (miRNAs), and mutations in its RNase IIIb domain can lead to issues with miRNA generation, promoting thyroid cancer development.
  • - The study analyzed the miRNA and mRNA profiles in various thyroid tissues, including non-cancerous and cancerous samples, revealing that mutations in DICER1 lead to a reduction of tumor-suppressive 5p-derived miRNAs and an increase in certain 3p miRNAs, which could serve as cancer markers.
  • - The alterations in miRNA expression result in gene changes that promote cell growth and affect signaling pathways, indicating a possible loss of thyroid differentiation and a tendency toward a more indol
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Background: Myeloproliferative neoplasms are a group of diseases with diverse biological and clinical characteristics. As a provisional separate entity, myeloid/lymphoid neoplasms with eosinophilia and genetic rearrangement have been described, which may present an initial clinical behavior of myeloproliferation and be characterized by varied genetic rearrangements. One of these entities is associated with FGFR1 rearrangements, characterized by its low prevalence and few treatment options.

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Context: Pediatric thyroid cancer (TC) incidence rates are increasing, yet TC has one of the highest survival rates. Despite increased prevalence, little is known about youth adjustment to TC, particularly compared to other pediatric cancers.

Objective: The current study sought to describe health-related quality of life (HRQoL) in pediatric TC patients early after diagnosis compared to other pediatric cancer patients and healthy youth and examine predictors of HRQoL.

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Pediatric Graves' disease (GD) is associated with hyperthyroid symptoms that impact psychosocial and physical functioning. Total thyroidectomy (TT) is a definitive treatment option that replaces antithyroid medication. While studies have examined health-related quality of life (QOL) in adults, there are no data describing impacts of TT in pediatrics.

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Combination immunotherapy is a treatment strategy in patients with renal cell carcinoma that has proved to be effective in phase III randomized clinical trials. These studies do not include patients with end stage kidney disease on hemodialysis. We discuss this case about a patient with metachronous bilateral clear cell renal cell carcinoma, managed with bilateral nephrectomy and ulterior requirement of hemodialysis, with lung and intestinal progression, managed with combination immunotherapy, with a partial response and absence of adverse effects related to treatment.

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Follicular patterned thyroid nodules with nuclear features of papillary thyroid carcinoma (PTC) encompass a range of diagnostic categories with varying risks of metastatic behavior. Subtypes include the invasive encapsulated follicular variant of PTC (Ienc-fvPTC) and infiltrative fvPTC (inf-fvPTC), with tumors lacking invasive features classified as noninvasive follicular thyroid neoplasms with papillary-like features (NIFTPs). This study aimed to report the clinical and histological features of pediatric cases meeting criteria for these histological subtypes, with specific focus on Ienc-fvPTC and inf-fvPTC.

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Introduction: The diagnostic utility of molecular profiling for the evaluation of indeterminate pediatric thyroid nodules is unclear. We aimed to assess pediatric cases with indeterminate thyroid fine-needle aspiration (FNA) alongside clinicopathologic features and mutational analysis.

Methods: A retrospective review of 126 patients with indeterminate cytology who underwent FNA between January 2010 and December 2021 at the Children's Hospital of Philadelphia was performed.

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Background: Although traditional and cultural health practices are widely used in Colombia, physicians are not trained to address intercultural tensions that arise in clinical practice. Cultural safety encourages practitioners to examine how their own culture shapes their clinical practice and to respect their patients' culture. It requires inviting patients of non-dominant cultures to co-design culturally safe health care.

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Background: Childhood cancer survivors (CCS) are at increased risk for thyroid disease, and many require definitive management with thyroid surgery. Despite this, there is limited evidence on surgical outcomes among CCS. We sought to evaluate postoperative outcomes at our institution among CCS undergoing thyroid surgery compared to patients without a history of primary childhood malignancy.

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Article Synopsis
  • * These risk factors can lead to damage in heart cells (myocytes), causing issues like fibrosis, changes in cell size, and potentially transitioning to a pathological state of PHF.
  • * Advanced imaging techniques like 2D- and 3D-speckle tracking echocardiography are used to detect early signs of heart damage by measuring cardiac strain, which can indicate the level of myocardial remodeling and dysfunction.
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Purpose: In 2014, data from a comprehensive multiplatform analysis of 496 adult papillary thyroid cancer samples reported by The Cancer Genome Atlas project suggested that reclassification of thyroid cancer into molecular subtypes, -like and -like, better reflects clinical behavior than sole reliance on pathologic classification. The aim of this study was to categorize the common oncogenic variants in pediatric differentiated thyroid cancer (DTC) and investigate whether mutation subtype classification correlated with the risk of metastasis and response to initial therapy in pediatric DTC.

Methods: Somatic cancer gene panel analysis was completed on DTC from 131 pediatric patients.

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Thyroid lobectomy reduces risks of surgical complications and need for levothyroxine (LT4). We aimed at identifying the clinical course and risk factors for postlobectomy hypothyroidism to optimize surgical counseling and management in pediatric patients undergoing lobectomy. Clinical and biochemical presentations pre- and postlobectomy were retrospectively reviewed for 110 patients who underwent thyroid lobectomy between 2008 and 2020 at the Children's Hospital of Philadelphia.

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Importance: The current recommendation for pediatric patients with papillary thyroid cancer (PTC) is a total thyroidectomy. This recommendation applies to all stages of PTC, including papillary thyroid microcarcinoma (≤1 cm, T1a) tumors.

Objective: To evaluate the characteristics of American Joint Committee on Cancer T1 PTC tumors in a large pediatric population and to identify a subgroup of patients who may benefit from a thyroid lobectomy instead of a total thyroidectomy.

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Introduction: Risk of malignancy for pediatric thyroid nodules classified according to The Bethesda System for Reporting Thyroid Cytopathology (TBSRTC) is not well defined. Correlations between risk of malignancy and ancillary clinical data remain inconclusive. We report a single institutional experience of fine-needle aspiration (FNA) to improve upon current management paradigm of thyroid nodules.

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Introduction: Phosphatase and tensin homolog (PTEN) hamartoma tumor syndrome (PHTS) comprises a collection of clinical features characterized by constitutional variants in PTEN. Several guidelines recommend thyroid screening, beginning at the pediatric age at the time of PHTS diagnosis; however, the benefits of early surveillance has not been well defined.

Methods: We conducted a retrospective investigation of patients followed up at the Children's Hospital of Philadelphia with a diagnosis of PHTS between January 2003 and June 2019.

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Degranulation, a fundamental effector response from mast cells (MCs) and platelets, is an example of regulated exocytosis. This process is mediated by SNARE proteins and their regulators. We have previously shown that several of these proteins are essential for exocytosis in MCs and platelets.

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Objective: This single-arm real-world observation aims to examine the effects of empagliflozin (EMPA) on coronary risk factors among subjects with known diabetes.

Materials And Methods: Records of 63 subjects with type 2 diabetes mellitus, receiving EMPA were drawn for this study. Of 63 patients with diabetes, 6 were excluded, and the remaining 57 received EMPA (25 mg/day) for 24 weeks.

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Objective: Hispanic immigrants exhibit more positive outcomes than U.S.-born Hispanics across educational, psychological, and physical health indices, a phenomenon called the immigrant paradox.

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Background: Genetic alterations in multiple cell signaling pathways are involved in the molecular pathogenesis of thyroid cancer. Oncogene mutation testing and gene-expression profiling are routinely used for the preoperative risk management of adult thyroid nodules. In this study, we evaluated the potential value of miRNA biomarkers for the classification of pediatric thyroid lesions.

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