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Nadine R Caron

Publications and source records attributed to Nadine R Caron.

6 recordsLinked to original sources
PubMed2025

The cost and cost trajectory of genome sequencing and bioinformatics analysis for Indigenous children with suspected rare diseases.

PURPOSE: Indigenous peoples are underrepresented in reference genome libraries. Consequently, rare disease diagnosis may require bespoke bioinformatics analyses of genome sequences. Establishing diagnostic cost is crucial to support policy development for equitable diagnosis of rare diseases. We estimated the cost and cost trajectory of diagnostic genome sequencing and bioinformatics for Indigenous participants with suspected rare diseases. METHODS: We conducted a microcosting study of Indigenous children and their families receiving genome sequencing through Canada's Silent Genomes Project. Invoice data informed the costs of genome sequencing. We conducted a time-and-motion study for bioinformatics analyses, including labor, computing, and data storage costs. RESULTS: With standard bioinformatics, costs ranged from C$3645 (SD: 455) for singletons to C$7402 (SD: 566) for trios. With advanced, bespoke bioinformatics, costs ranged from C$5344 (SD: 634) for singletons to C$9760 (SD: 822) for trios. Genome sequencing was a primary cost driver; however, sequencing costs decreased by 61% over 4 years. Bioinformatics costs ranged from 21.3% to 58.3% of the total costs. The time required for bioinformatics ranged from 71 hours to 215 hours for standard and advanced analyses, respectively. CONCLUSION: Genome sequencing costs decreased over time. Bioinformatics is a significant cost driver, particularly for bespoke analyses arising from nonrepresentative reference libraries.

Humans↗
PubMed2006

Selective use of adrenal venous sampling in the lateralization of aldosterone-producing adenomas.

INTRODUCTION: It has been suggested that routine adrenal venous sampling (AVS) is necessary to lateralize an aldosterone-producing adenoma in patients with primary hyperaldosteronism. However, the success rate of AVS is variable, with potential risks. We review our experience at University of California San Francisco (UCSF), where AVS is used only selectively, to determine outcomes with this approach. METHODS: All patients undergoing adrenalectomy for aldosteronoma at UCSF from January 1995 to October 2004 were included. Outcome after adrenalectomy was determined based on plasma levels of aldosterone and potassium, rates of persistent hypertension, and reduced use of antihypertensive medications. RESULTS: Altogether, 65 patients were included in the study, 52 (80%) of whom had their adrenal tumors lateralized based on computed tomography scans, magnetic resonance imaging, or both. The remaining 13 (20%) patients had doubtful localization of their lesions on imaging. We did not routinely perform AVS in patients with definitive imaging findings. Thus, only 4 (8%) patients with definitive imaging findings underwent AVS, and one was unsuccessful. Of the 13 patients with doubtful lateralization on imaging, 8 underwent AVS. With this practice, biochemical cure rates after adrenalectomy were up to 100%, and hypertension resolved or was improved in 85% of patients. CONCLUSIONS: AVS may be performed selectively only when preoperative imaging cannot definitively lateralize the aldosteronoma. This practice in our center has resulted in high cure rates. During the era of improved imaging resolution and experience, mandatory routine AVS is not necessary to achieve high cure rates for aldosteronomas.

Adenoma↗
PubMed2006

Papillary thyroid cancer.

Papillary thyroid cancer (PTC), the most common thyroid malignancy, is associated with an excellent prognosis. Overall survival is more than 90%. The first-line treatment is surgical excision, and although the debate continues as to whether a total thyroidectomy or thyroid lobectomy should be recommended, most patients at the University of California, San Francisco are treated with a total thyroidectomy. Not only has this been shown to be superior for overall survival in select patient populations, but local recurrence is also significantly lower with this approach. Total thyroidectomy also optimizes the adjuvant treatment options that are unique to "differentiated" thyroid cancer because these malignant cells retain many of the features of the native thyroid follicular cell. These cellular features are used for specialized investigations and treatment options in patients with PTC. For example, PTC cells retain the ability to produce thyroglobulin, to be stimulated by thyroid-stimulating hormone (TSH), and to take up iodine. These features are vital and separate differentiated thyroid cancer from other epithelial malignancies because such features can be used in clinical follow-up (monitoring serum thyroglobulin levels, whole body radioactive iodine scans) and in the treatment of patients with PTC (TSH suppression, radioactive iodine ablation of thyroid remnant, local recurrences, and regional or distant metastases). In summary, the wide array of treatment options for patients with PTC includes surgery, radioactive iodine, thyroid hormone suppression of TSH, external beam radiation (less commonly), and rarely, chemotherapy. This continues to be an area of exciting research for emerging therapy, much of which concentrates on enhancing or re-establishing the differentiated features of the thyroid cancer cell, in an effort to optimize the adjuvant treatment options. The treatment options that are chosen depend on patient factors, disease factors, and the decisions of the patient and treatment team.

Antineoplastic Agents↗
PubMed2005

Papillary thyroid cancer: surgical management of lymph node metastases.

Papillary thyroid cancer (PTC), the most common thyroid malignancy, is associated with cervical lymph node metastases in 30% to 90% of patients. While surgery is the primary treatment modality for PTC, radioactive iodine and thyroid hormone suppression often complement the treatment plan. Although thyroid hormone suppression may decrease the incidence of recurrent disease and radioactive iodine may diagnose and treat metastases, lymph node dissection (LND) is the mainstay treatment for clinically evident cervical lymph node metastases. The surgical treatment options published in the literature include the traditional radical LND, the modified radical LND, the selective LND (compartment-based resection based on documented lymph node metastases), and a 'berry picking' resection (in which only the grossly abnormal lymph nodes are excised). At the University of California, San Francisco, we prefer the modified radical LND with preservation of the cervical sensory nerves for the first lymph node dissection with the 'berry picking' procedure limited to surgical treatment of recurrent nodal metastases in previously resected lymph node basins. Some centers are evaluating the potential role of sentinel lymph node biopsies for PTC. While the extent of lymphadenectomy is debated, most physicians treating patients with PTC agree that clinical evidence of lymphatic metastases should be surgically exercised and there is no role for prophylactic LND.

Antineoplastic Agents↗
PubMed2004

Persistent and recurrent hyperparathyroidism.

More than 95% of patients with primary hyperparathyroidism (HPT) will be cured at initial operation by an experienced surgeon. Despite this success rate, persistent and recurrent HPT remain challenging clinical entities. The most cost effective and safest treatment for persistent and recurrent HPT is avoidance by successful first operation. The contributors to treatment failure can be categorized into factors related to the initial surgical procedure, anatomic variability, and the biology of disease. An understanding of the factors that commonly contribute to treatment failure can help prevent persistent and recurrent disease and plays an integral role in planning subsequent surgical approaches. Once a biochemical diagnosis of persistent or recurrent HPT is confirmed, a thorough evaluation of previous operative, pathology, and radiology reports is essential. Localization procedures supplement this information and help direct the reoperative approach. When complementary noninvasive studies, such as ultrasound, sestamibi, and magnetic resonance imaging are negative, equivocal, or discordant, invasive tests (eg, selective venous sampling for parathyroid hormone levels) are warranted. Intraoperative ultrasound and gamma-probe localization are of questionable value, but intraoperative parathyroid hormone assays help facilitate these challenging repeat dissections. Repeat parathyroid exploration is associated with more complications and fewer cures compared to the initial explorations and should only be undertaken by an experienced surgeon in a center that can provide expert preoperative localization, adjunctive intraoperative tools, and cryopreservation of parathyroid tissue when necessary. Although controversy exists regarding indications for reoperative treatment for persistent or recurrent HPT, parathyroidectomy remains the only curative treatment option. Surgery should be considered first-line treatment in most circumstances.

Diet↗