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Dyshormonogenesis is caused by genetic defects in thyroid hormone synthesis. The most common form is thyroid peroxidase (TPO) deficiency. Clinically variable degree of hypothyroidism and thyroid gland enlargement depend on the severity of the defect. We report 22-year-old female with congenital hypothyroidism (CH) caused by TPO deficiency. Since goitrous CH was diagnosed at 8-year-old, L-thyroxine has been supplemented. Her goiter size was fluctuated according to the compliance on the medication. After 3.5 years of medication, ultrasonography found solid nodule, which was interpreted as nodular hyperplasia pathologically. The nodule size did not change during recent 10 years except peripheral calcification. Genetic analysis using NGS for CH revealed compound heterozygous variants of c.2757del;p.(Met921Trpfs*53) and c.1580G>T;p.(Trp527Leu) in TPO gene. The first variant inherited from asymptomatic mother is pathogenic frame-shift mutation associated with stop codon, and the second one inherited from her asymptomatic father is predicted as deleterious in bioinformatics software program. From this case, we have observed that nodular change and calcification developed from diffuse enlarged goiter in dyshormonogenetic patient. Early molecular diagnosis of dyshormonogenesis and TSH suppression is important for not developing thyroid nodules in case of childhood euthyroid goiter without thyroid autoantibodies.
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Dual oxidase maturation factor 2 (DUOXA2) is necessary for the enzymatic activity of dual oxidase 2 (DUOX2) to generate hydrogen peroxide production during thyroid hormone synthesis. We describe two Korean children, who were initially suspected to have transient congenital hypothyroidism (CH), but later confirmed to have permanent CH caused by DUOXA2 mutation. Treatment with levothyroxine was discontinued after confirming thyroid-stimulating hormone (TSH) level to be below 10 μU/mL and normal thyroid scan at the first or second trial-off therapy. However, after therapy cessation, TSH elevated to more than 10 μU/mL, and goiter developed in case 2. As a result, levothyroxine was resumed. Next-generation sequencing showed compound heterozygous mutations of DUOXA2 at Y138X and Y246X in case 1 and homozygous mutations of DUOXA2 at Y246X in case 2. In this report, a longer follow-up is recommended even after treatment termination in transient CH, and genetic studies might help assess the permanence of hypothyroidism in cases of mildly elevated TSH after trial-off therapy.
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Secukinumab is an anti-interleukin 17A monoclonal antibody used for treating chronic plaque psoriasis. Eczematous eruption is a relatively unknown adverse effect of secukinumab. A 32-year-old man developed eczematous eruptions on both lower extremities following secukinumab treatment for severe plaque psoriasis. The lesions were clinically diagnosed as a nummular eczema-like eruption and were treated with topical corticosteroids without switching or stopping secukinumab. Considering the increased use of secukinumab and other interleukin-17A inhibitors, dermatologists should be aware of the cutaneous side effects of the drug.
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Purpose@#Totally implantable venous access ports (TIVAPs) can be used long-term for safe administration of intravenous drugs. TIVAP complications include catheter-related infections, venous thrombosis, extravasation, TIVAP migration, and pain. The relationship between the timing of the first chemotherapy administration after port implantation and complications is controversial. This study aimed to investigate the safety of immediate use of TIVAPs and the associated risk factors for complications. @*Methods@#Between January 2016 and December 2018, 305 patients (median age, 53 years; 256 women) who underwent TIVAP placement at our institution were included. Chemotherapy was administered within 2 days of implantation. A retrospective analysis of patients’ clinical data was performed to investigate catheter days and complications of TIVAPs. @*Results@#Overall, 305 patients were evaluated over 57,324 catheter days (median, 168 catheter days; interquartile range, 105). The median interval between placement and first use of TIVAPs was 0.98 days. The overall morbidity rate was 2.95%. Nine complications occurred in nine patients, including TIVAP-related infection (4), pain (2), port occlusion (1), thrombosis (1), and scar disunion (1), of which five required port removal (1.64%). The median number of catheter days before complications occurred was 61 (range, 10–457 days; interquartile range, 51). No complications occurred within 7 days of implantation. Body mass index was an independent risk factor for TIVAP-related complications in the Cox proportional hazards model (multivariable analysis: hazard ratio, 1.221; 95% confidence interval, 1.054–1.414; P = 0.008). @*Conclusion@#This study suggests the safe long-term use of TIVAPs following their immediate chemotherapy administration within 2 days of implantation.
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Bariatric patients are at risk of diverse complications, such as bowel obstruction, internal hernia, and mesenteric thrombosis, which can result in massive small bowel resection with short bowel syndrome (SBS) as a consequence. In this study a case of an internal hernia after childbirth in a 36-year-old patient with a history of laparoscopic Roux-en-Y gastric bypass surgery is reported. An emergency laparotomy revealed an internal hernia in Petersen’s space with volvulus, causing extensive small bowel infarction and necrosis. SBS is a complicated multifaceted syndrome which requires a multidisciplinary approach, such as medical, nutritional, and pharmaceutical therapies, to optimize fluid and nutrient absorption over long-term monitoring and with revisions of the care plan. To reduce the morbidity and mortality associated with an internal hernia and volvulus, clinicians must be acutely aware of a potential SBS diagnosis and not delay surgical exploration, even if the vital signs, laboratory results, and imaging studies are normal.
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Bariatric patients are at risk of diverse complications, such as bowel obstruction, internal hernia, and mesenteric thrombosis, which can result in massive small bowel resection with short bowel syndrome (SBS) as a consequence. In this study a case of an internal hernia after childbirth in a 36-year-old patient with a history of laparoscopic Roux-en-Y gastric bypass surgery is reported. An emergency laparotomy revealed an internal hernia in Petersen’s space with volvulus, causing extensive small bowel infarction and necrosis. SBS is a complicated multifaceted syndrome which requires a multidisciplinary approach, such as medical, nutritional, and pharmaceutical therapies, to optimize fluid and nutrient absorption over long-term monitoring and with revisions of the care plan. To reduce the morbidity and mortality associated with an internal hernia and volvulus, clinicians must be acutely aware of a potential SBS diagnosis and not delay surgical exploration, even if the vital signs, laboratory results, and imaging studies are normal.
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Background@#Although myocardial thickness is an important variable for therapeutic catheter ablation of cardiac arrhythmias, quantification of wall thickness has been overlooked. We developed a software (AMBER) that measures 3D-myocardial thickness using a cardiac computed tomogram (CT) image, verified its accuracy, and tested its clinical feasibility. @*Methods@#We generated 3D-thickness maps by calculating wall thickness (WT) from the CT images of 120 patients’ hearts and a 3D-phantom model (PhM). The initial vector field of the Laplace equation was oriented to calculate WT with the field lines derived from the 3D mesh. We demonstrate the robustness of the Laplace WT algorithm by comparing with the real thickness of 3D-PhM, echocardiographically measured left ventricular (LV) WT, and regional left atrial (LA) WT reported from previous studies. We conducted a pilot case of catheter ablation for atrial fibrillation (AF) utilizing real-time LAWT map-guided radiofrequency (RF) energy titration. @*Results@#AMBER 3D-WT had excellent correlations with the real thickness of the PhM (R = 0.968, p < 0.001) and echocardiographically measured LVWT in 10 patients (R = 0.656, p = 0.007). AMBER 3D-LAWT (n = 120) showed a relatively good match with 12 previously reported regional LAWT. We successfully conducted pilot AF ablation utilizing AMBER 3D-LAWT map-guided real-time RF energy titration. @*Conclusion@#We developed and verified an AMBER 3D-cardiac thickness map measured by cardiac CT images for LAWT and LVWT, and tested its feasibility for RF energy titration during clinical catheter ablation.
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Circadian rhythms are driven by circadian oscillators, and these rhythms result in the biological phenomenon of 24-h oscillations. Previous studies suggest that learning and memory are affected by circadian rhythms. One of the genes responsible for generating the circadian rhythm is Rev-erbα. The REV-ERBα protein is a nuclear receptor that acts as a transcriptional repressor, and is a core component of the circadian clock. However, the role of REV-ERBα in neurophysiological processes in the hippocampus has not been characterized yet. In this study, we examined the time-dependent role of REV-ERBα in hippocampal synaptic plasticity using Rev-erbα KO mice. The KO mice lacking REV-ERBα displayed abnormal NMDAR-dependent synaptic potentiation (E-LTP) at CT12~CT14 (subjective night) when compared to their wild-type littermates. However, Rev-erbα KO mice exhibited normal E-LTP at CT0~CT2 (subjective day). We also found that the Rev-erbα KO mice had intact late LTP (L-LTP) at both subjective day and night. Taken together, these results provide evidence that REV-ERBα is critical for hippocampal E-LTP during the dark period.
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Animais , Camundongos , Fenômenos Biológicos , Relógios Circadianos , Ritmo Circadiano , Hipocampo , Aprendizagem , Potenciação de Longa Duração , Memória , Plasticidade NeuronalRESUMO
OBJECTIVES: This study investigated the correlation between bone mineral density (BMD)/trabecular bone score (TBS) and body mass index (BMI), height and weight in Korean adults. METHODS: We enrolled 2555 female participants in their 20s–80s and 1631 male participants in their 20s–70s. Participants with history of previous vertebral surgeries or current vertebral diseases were excluded. Female and male participants were divided into osteoporosis group (n = 136 and n = 31, respectively), osteopenia group (n = 822 and n = 460, respectively), and normal group (n = 1596 and n = 1140, respectively) based on their BMD T-score. Dual-energy X-ray absorptiometry image analysis and linear regression analysis were conducted on each participant in each group to determine the P-value and the correlation between BMD T-score/TBS T-score and BMI, weight, and height. RESULTS: We found a significant correlation between BMI and TBS in both male and female participants. In the male participants, the correlation coefficient increased progressively from the normal group to the osteoporosis group. In the female group, we observed a significant positive correlation between height and TBS, and in the male group a significant negative correlation between weight and TBS was observed. CONCLUSIONS: BMI and weight are closely correlated to body fat content. BMD was positively correlated to BMI and weight, while TBS was negatively correlated to BMI and weight. Therefore, although BMI causes an increase in BMD, it appears to be negatively affecting bone quality.
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Adulto , Feminino , Humanos , Masculino , Absorciometria de Fóton , Tecido Adiposo , Índice de Massa Corporal , Densidade Óssea , Doenças Ósseas Metabólicas , Coreia (Geográfico) , Modelos Lineares , Mineradores , OsteoporoseRESUMO
The National Evidence-based Healthcare Collaborating Agency (NECA), an institution for health technology assessment in Korea, has used public solicitation of research topics since its establishment in 2009. This creates a necessity for examining whether a given research topic was selected to be considered when prioritizing healthcare technology assessment and distributing healthcare resources. This study aimed to investigate the relationship between the research topics suggested to NECA and the disease burden in Korea. To find the correlation between disease burden and 1,112 suggested topics and 91 performed topics that were classified by Human Research Classification System a linear auxiliary trend line and scatter plot were constructed using disability-adjusted life years (DALYs), and Pearson's correlation coefficients were calculated. The results suggested that cancer was most common, followed by cardiovascular diseases, among suggested research topics and research topics performed by NECA, as well as in terms of the ratio of performed to suggested topics. The correlation between research topic and disease burden index indicated a strong correlation with DALYs and years of life lost (YLLs). However, years lived with disability and research topic had no relationship. Suggested topics showed a greater correlation with YLLs than DALYs, whereas performed topics showed a greater correlation with DALYs than YLLs, showing that despite the fact that the diseases with a high burden from morbidity were appropriately considered with respect to selecting research topics, a statistically significant difference was not found. As the first Korean study to assess the correlation between research topics and disease burden, our results will be used as base data for prioritizing the allocation of healthcare resources in the future.