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Abstract: Introduction: Resistance to thyroid hormone β (RTHβ) is an inherited syndrome caused by dominant negative variants in the THRB gene (NM_000461.5). The clinical picture of RTHβ is variable, and patients harboring the same variant may display different degrees of disease severity. Case Presentation: A 30-year-old man presented with thyrotoxicosis and central hyperthyroidism and was found to have a novel variant in the exon 10 of THRB gene (c.C1282G, p.L428V), located within the third hot spot region of the C-terminal of the receptor. Surprisingly, the same variant was found in two other relatives with an apparent normal thyroid function at initial screening. After exclusion of a TSH-secreting adenoma and serum interference in the proband, and the finding that exogenous levothyroxine failed to suppress the TSH in the brother affected by nodular goiter, relatives’ thyroid function tests (TFTs) were reassessed with additional analytical method revealing biochemical features consistent with RTHβ in all carriers of the p.L428V variant. Functional studies showed a slightly impaired in vitro transcriptional activity of p.L428V. Interestingly‚ the expression of the human p.L428V thyroid hormone receptor beta in the zebrafish embryo background generated a phenotype consistent with RTHβ. Conclusion: Variable results of TFTs on some immunoassays can be a cause of RTHβ diagnostic delay, but the genotype-phenotype correlation in this family and functional studies support p.L428V as a novel THRB variant expanding the spectrum of gene variants causing RTHβ. In vivo, rather than in vitro, functional assays may be required to demonstrate the dominant negative action of THRB variants. Eur Thyroid J PubDate: Fri, 22 Oct 2021 09:51:23 +020
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Please help us test our new pre-print finding feature by giving the pre-print link a rating. A 5 star rating indicates the linked pre-print has the exact same content as the published article.
Abstract: Introduction: Small-volume hydrodissection liquid dissipates rapidly and confers only short-term protection during radiofrequency ablation (RFA) of benign thyroid nodules. The aim of this study was to establish a safe method for continuous, large-volume hydrodissection. Methods: A long needle was inserted and positioned outside the thyroid capsule; 5% glucose was injected to maintain a 3- to 5-mm continuous safety buffer. From October 2015 to July 2020, 166 patients underwent hydrodissection with different volumes, and ablation efficacy and complications associated with different liquid volumes (≤40 mL vs. #x3e;40 mL) were compared at 1-month postprocedure. Moreover, 20 mL liquid (equivalent to 250 mL in the human body) was injected around the thyroid of a rhesus monkey, after which CT scans were used to visualize the liquid’s fate and verify its safety. Results: The 51 patients with 10–40 mL injections and 116 patients with larger injections (45–450 mL) showed similar complete ablation rates (88.46% vs. 90.44%, p = 0.582), comparable 6-month VRR (82.79% vs. 76.62%, p = 0.079), and complication incidences, although the latter group had larger nodules (9.11 mL vs. 13.79 mL, p = 0.003), more energy delivered (3.44 kcal vs. 6.04 kcal, p #x3c; 0.001), and longer operation times (51.37 min vs. 69.2 min, p #x3c; 0.001). In the animal experiment, the 20 mL of liquid diffused quickly (within 10 min) from the vicinity of the thyroid to the mediastinum and retropharyngeal space. It was observed in the kidneys at 10 min and disappeared from the neck and chest space by 24 h. Conclusions: Continuous, large-volume hydrodissection can protect the delicate structures around the thyroid throughout the RFA procedure and might be beneficial in large thyroid nodule ablation. Eur Thyroid J PubDate: Fri, 15 Oct 2021 09:33:30 +020
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Abstract: Background: Papillary thyroid carcinoma (PTC) is typically treated with surgical resection, even in recurrent cases. However, some cases of recurrent PTC are refractory to the conventionally used locoregional radiotherapy and resection methods. 125I seed permanent brachytherapy has emerged as a promising alternative for such PTCs, but no effective brachytherapy protocol has been reported for tumors with a huge volume, liquefaction, necrosis, and skin invasion. Case Presentation: A 47-year-old man presented with recurrence 8 years after 2 thyroidectomy procedures for PTC and recurrent PTC. The tumor measured 6 × 7 × 8 cm3 and exhibited liquefaction, necrosis, and skin invasion. The patient was treated at our hospital from December 2017 to November 2018. He received one round of 125I seed temporary brachytherapy and 4 rounds of 125I seed permanent implantation. The activity of the seeds was 0.3–3.0 mCi, and the total dose delivered to the tumor was 145 Gy. The recurrent tumor was successfully removed by 125I seed brachytherapy guided with a 3D-printed template and ultrasound and CT scanning. The refractory tumor healed uneventfully after 125I seed brachytherapy without recurrence over the 25-month follow-up. Conclusions: To the best of our knowledge, this is the first reported case of a large thyroid carcinoma that was effectively treated by 3D-printed template-guided 125I seed brachytherapy. Eur Thyroid J PubDate: Mon, 04 Oct 2021 11:03:00 +020
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Abstract: Diffuse thyroid lipomatosis is a rare histopathological condition of unknown etiology, characterized by diffuse fatty infiltration of the thyroid stroma, which can result in diffuse goiter with compressive symptoms. We report a case of a 46-year-old man with 1-year history of progressive goiter enlargement with compressive symptoms. Imaging studies revealed multiple coalescent nodules. The patient underwent surgery, and the microscopic appearance revealed a diffuse infiltration of thyroid stroma by mature adipose tissue with associated amyloid deposition. A final diagnosis of diffuse lipomatosis of the thyroid gland was established. This patient represents one of the few reported cases of diffuse lipomatosis with coexisting deposition of amyloid protein of the thyroid gland and contributes to the better understanding of this extremely rare condition. Eur Thyroid J PubDate: Tue, 07 Sep 2021 09:59:15 +020
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Abstract: Introduction: Primary squamous cell carcinoma (PSCC) of the thyroid is an exceptionally rare malignancy accounting for #x3c;1% of all primary thyroid cancers. Therapy is multimodal including surgery, radiotherapy, and chemotherapy but with no consensus for management and therapy. Here, we describe a case of a male patient who presented with a BRAF V600E-mutated PSCC of the thyroid gland showing response to combined dabrafenib and trametinib therapy over a period of #x3e;12 months. Case Presentation: A 78-year-old male patient presented with a 3-week history of dysphonia and dyspnoea. Laryngoscopy revealed a mechanical obstruction by a right-sided, subglottical mass, which on cervical ultrasound was highly suggestive of anaplastic thyroid carcinoma. Additional workup including esophagogastroduodenoscopy showed compression of the oesophagus but no oesophageal infiltration by the tumour. Immunohistochemistry displayed CK19-positive cells indicating epithelial origin of the tumour. CK5/6 and P40 immunohistochemistry confirmed the morphological impression of squamous cell differentiation while staining with thyroid markers TTF-1 and TPO was negative and PAX8 showed a nuclear positive signal. Based on immunohistopathology, presence of TP53 and BRAF V600E mutations, and exclusion of metastatic squamous cell carcinoma of other origin, the diagnosis of a PSCC of the thyroid was established. As an individualized treatment concept, we decided to advocate combined BRAF V600E targeting by the multikinase inhibitors dabrafenib and trametinib. This led to drastic improvement in patient’s quality of life without severe side effects over a period of #x3e;12 months. Conclusion: In this case, molecular diagnosis allowed a highly individualized treatment concept with combined dabrafenib and trametinib therapy. Eur Thyroid J PubDate: Fri, 03 Sep 2021 18:04:07 +020
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Abstract: Introduction: Iodothyronine deiodinases are selenoproteins with the amino acid selenocysteine (Sec) introduced into the position of a TGA stop codon by a complex machinery involving tRNA[Ser]Sec when a cis-acting Sec-insertion sequence element is present in the 3′ end of the mRNA. Recently, a variant in the TRU-TCA1-1 gene encoding for tRNA[Ser]Sec was reported, which resulted in reduced expression of stress-related selenoproteins. The proband presented with multisystem symptoms, euthyroid hyperthyroxinemia, and selenium deficiency. Here, we describe 2 new members of a family harboring the same tRNA[Ser]Sec variant. Case Presentation: A 13-year-old patient was seen for Hashimoto’s disease with high FT3 (4.6 pg/mL, normal range 2–4.2 pg/mL) and normal FT4 and TSH concentrations. He had no clinical complaints. During a 6-year clinical and hormonal follow-up, the index patient was not treated, FT3 decreased, FT4 increased, and serum TSH stayed in the normal range resulting in a euthyroid hyperthyroxinemia. Reverse T3 concentration was significantly increased at the last visit (19 years and 4 months). At the last evaluation, the total selenium level was low (91 μg/L, normal range 95–125). DNA sequencing identified a germinal homozygous variant (C65G) in the TRU-TCA1-1 gene. During follow-up, no additional clinical symptom was observed in the absence of any treatment. The same germinal tRNA[Ser]Sec variant was identified at heterozygous state in his father, who had normal thyroid function tests except a moderately increased reverse T3 concentration, with increased total selenium (143 μg/L) level. In both patients, the expression of stress-related selenoprotein GPX3 was in the low-normal range (168 and 180 IU/L, respectively, normal range: 150–558 IU/L). We did not find any significant biological abnormalities evocative of other selenoprotein deficiencies. Discussion/Conclusion: We report on 2 members of a family with a variant in the TRU-TCA1-1 gene encoding for tRNA[Ser]Sec. Our study suggests that this tRNA[Ser]Sec variant is not exclusively causative of disruption in selenoprotein synthesis. Eur Thyroid J PubDate: Thu, 26 Aug 2021 12:35:04 +020
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Abstract: Background: Cardiac metastases from thyroid cancers are uncommon with a poor prognosis. There is a lack of long-term follow-up studies. Cases: We report 2 cases of cardiac metastasis from medullary thyroid cancer (MTC). Both patients presented limited metastatic disease apart from a cardiac metastasis. The initial diagnosis was challenging and was facilitated by functional imaging with an immuno-PET-CT using an anti-CEA bispecific antibody and a 68Ga-labeled peptide. Both patients were treated with the multitarget kinase inhibitor vandetanib with prolonged stability. The first patient was alive at the last follow-up, 14 years after the diagnosis of cardiac metastasis. The second patient required surgical excision of the cardiac mass because of disease progression under vandetanib. Conclusion: These cases illustrate long-term survival and effectiveness of clinical management of 2 patients who developed cardiac metastases from MTC, in the current era of personalized medicine with targeted therapy. Eur Thyroid J PubDate: Wed, 25 Aug 2021 07:39:23 +020
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Abstract: Objective: We aimed to validate the association of genome-wide association study (GWAS)-identified loci and polygenic risk score with serum thyroid-stimulating hormone (TSH) concentrations and the diagnosis of hypothyroidism. Then, the causal relationship between serum TSH and osteoporotic bone fracture risk was tested. Methods: A cross-sectional study was done among patients of European Caucasian ethnicity recruited in Tayside (Scotland, UK). Electronic medical records (EMRs) were used to identify patients and average serum TSH concentration and linked to genetic biobank data. Genetic associations were performed by linear and logistic regression models. One-sample Mendelian randomization (MR) was used to test causality of serum TSH on bone fracture risk. Results: Replication in 9,452 euthyroid individuals confirmed known loci previously reported. The 58 polymorphisms accounted for 11.08% of the TSH variation (p #x3c; 1e−04). TSH-GRS was directly associated with the risk of hypothyroidism with an odds ratio (OR) of 1.98 for the highest quartile compared to the first quartile (p = 2.2e−12). MR analysis of 5,599 individuals showed that compared with those in the lowest tertile of the TSH-GRS, men in the highest tertile had a decreased risk of osteoporotic bone fracture (OR = 0.59, p = 2.4e−03), while no difference in a similar comparison was observed in women (OR = 0.93, p = 0.61). Sensitivity analysis yielded similar results. Conclusions: EMRs linked to genomic data in large populations allow replication of GWAS discoveries without additional genotyping costs. This study suggests that genetically raised serum TSH concentrations are causally associated with decreased bone fracture risk in men. Eur Thyroid J PubDate: Thu, 19 Aug 2021 08:26:31 +020
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