BRAFV600E and TERT promoter C228T mutations on ThyroSeq v3 analysis of delayed skin metastasis from papillary thyroid cancer: a case report and literature review.

BACKGROUND: Skin metastasis from papillary thyroid cancer (PTC) is a rare entity that can occur up to decades after treatment of the primary tumor. Here, we present a patient who developed skin metastasis 10 years after treatment of her primary tumor and describe the molecular findings of the metastatic lesion. CASE PRESENTATION: A 44-year-old female with a history of PTC who underwent a total thyroidectomy and radioactive iodine (RAI) treatment 10 years ago presented with a 1.3-cm skin lesion along the prior thyroidectomy scar. A biopsy revealed metastatic PTC, and the patient underwent surgical excision of the lesion. ThyroSeq molecular testing showed the copresence of BRAFV600E mutation and TERT promoter C228T mutation. The patient subsequently received one round of adjuvant RAI therapy. CONCLUSIONS: A high index of suspicion is warranted in patients with a history of PTC who develop a skin lesion, even several years after remission of the primary disease. In patients with high-risk mutations, such as BRAFV600E and TERT promoter C228T mutations, long-term surveillance of disease recurrence is particularly important.

Premeal Consumption of a Protein-Enriched, Dietary Fiber-Fortified Bar Decreases Total Energy Intake in Healthy Individuals.

BACKGROUND: A premeal load of protein can increase satiety and reduce energy intake. Dietary fiber also conveys metabolic benefits by modulating energy intake. We made a protein-enriched, dietary fiber-fortified bar (PFB) and aimed to investigate its effects on food intake and gut hormone secretion in healthy individuals. METHODS: Twenty subjects with normal glucose tolerance were enrolled. On three separate visits, the subjects received, in a randomized order, one of the following: a PFB containing 73 kcal with 10.7 g of protein and 12.7 g of dietary fiber; a usual bar (UB) containing the same calories as the PFB but only 0.9 g of protein and no dietary fiber; or water (control). After 15 minutes, the subjects had ad libitum intake of a test meal. Food consumption, appetite, and plasma gut hormone levels were measured. RESULTS: Total energy intake, including the bar and the test meal, was significantly reduced with the PFB preload compared to the water (904.4±534.9 kcal vs. 1,075.0±508.0 kcal, P=0.016). With the UB preload, only the intake of the test meal was reduced (P=0.044) but not the total energy intake (P=0.471) than the water. Fullness was also significantly increased after the PFB. In addition, postprandial glucose levels decreased and glucagon-like peptide-1 levels increased with the PFB compared with both the UB and water. CONCLUSION: In healthy individuals, a premeal supplementation of PFB reduced total energy intake and decreased postprandial glucose excursion. This finding necessitates long-term studies regarding clinical use in obesity.

Effect of prescribing metformin according to eGFR instead of serum creatinine level: A study based on Korean National Health and Nutrition Examination Survey (KNHANES) 2009-2014.

BACKGROUND: The metformin label has recently been changed from serum creatinine (sCr)-based to estimated glomerular filtration rate (eGFR)-based indication, which is expected to expand its use for patients with mild renal insufficiency. However, because the sCr level is lower in Asians than in Caucasians at the same level of renal function, this change might not expand metformin use in the Asian population. We investigated the effect of this change among Korean patients with diabetes. METHODS: Data from the Korean National Health and Nutrition Examination Survey 2009 to 2014 were used and included 4,127 adult patients with diabetes. The metformin eligibility was assessed by the sCr level (1.4 mg/dL for women and 1.5 mg/dL for men) or by eGFR categories (contraindicated, <30; indeterminate, ≥30, <45; likely safe, ≥45 mL/min/1.73 m2) calculated by various eGFR equations including MDRD equation. We designated the 'expanding' and 'contracting' population as those who are likely safe according to eGFR among sCr-ineligible patients and those contraindicated according to eGFR among sCr-eligible patients, respectively. Results were weighted to the whole Korean adult population. RESULTS: All eGFR equations showed expansion in the population for whom metformin is likely safe, ranging from 14.3% to 19.9% of the sCr-ineligible population. With the MDRD equation, the expanding population was 15,264 (15.8%) and the contracting population was 0 (0.0%). Male sex and younger age were significantly associated with the expanding population. CONCLUSIONS: Contrary to our concern, prescribing metformin according to eGFR substantially expanded the indication of its use among the Korean diabetic patients.

Limited Diagnostic Utility of Plasma Adrenocorticotropic Hormone for Differentiation between Adrenal Cushing Syndrome and Cushing Disease.

BACKGROUND: Measurement of the plasma adrenocorticotropic hormone (ACTH) level has been recommended as the first diagnostic test for differentiating between ACTH-independent Cushing syndrome (CS) and ACTH-dependent CS. When plasma ACTH values are inconclusive, a differential diagnosis of CS can be made based upon measurement of the serum dehydroepiandrosterone sulfate (DHEA-S) level and results of the high-dose dexamethasone suppression test (HDST). The aim of this study was to assess the utility of plasma ACTH to differentiate adrenal CS from Cushing' disease (CD) and compare it with that of the HDST results and serum DHEA-S level. METHODS: We performed a retrospective, multicenter study from January 2000 to May 2012 involving 92 patients with endogenous CS. The levels of plasma ACTH, serum cortisol, 24-hour urine free cortisol (UFC) after the HDST, and serum DHEA-S were measured. RESULTS: Fifty-seven patients had adrenal CS and 35 patients had CD. The area under the curve of plasma ACTH, serum DHEA-S, percentage suppression of serum cortisol, and UFC after HDST were 0.954, 0.841, 0.950, and 0.997, respectively (all P<0.001). The cut-off values for plasma ACTH, percentage suppression of serum cortisol, and UFC after HDST were 5.3 pmol/L, 33.3%, and 61.6%, respectively. The sensitivity and specificity of plasma ACTH measurement were 84.2% and 94.3%, those of serum cortisol were 95.8% and 90.6%, and those of UFC after the HDST were 97.9% and 96.7%, respectively. CONCLUSION: Significant overlap in plasma ACTH levels was seen between patients with adrenal CS and those with CD. The HDST may be useful in differentiating between these forms of the disease, especially when the plasma ACTH level alone is not conclusive.

Development of species specific AFLP-derived SCAR marker for authentication of Panax japonicus C. A. MEYER.

Panax japonicus is an important medicinal plant. The aim of this study was to develop species-specific molecular markers for P. japonicus. Amplified fragment length polymorphism (AFLP) was compared among P. japonicus, P. ginseng and P. quinquefolius. A clear species-specific AFLP marker for P. japonicus was generated. After isolation and sequencing of the AFLP fragment, a DNA sequence (293 bp) was obtained and named JG14. Oligonucleotide primer (23 mer) was designed for amplifying 191 bp of the sequence of JG14. PCR analysis revealed a clear amplified band for P. japonicus but not in 3 other Panax species (P. ginseng, P. quinquefolius and P. notoginseng). This sequence characterized amplified regions (SCAR) marker will be used for rapid authentication of P. japonicus among other related Panax species. This is the first report of species-specific SCAR marker development in P. japonicus.