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Background@#Turner syndrome (TS) is a common chromosomal abnormality, which is caused by loss of all or part of one X chromosome. Hormone replacement therapy in TS is important in terms of puberty, growth and prevention of osteoporosis however, such a study has never been conducted in Korea. Therefore, the purpose of our study was to determine relationship between the starting age, duration of estrogen replacement therapy (ERT) in TS and develop a hormone replacement protocol suitable for the situation in Korea. @*Methods@#This is retrospective study analyzed the medical records in TS patients treated at the Severance hospital, Yonsei University College of Medicine, Seoul, Korea from 1997 to 2019. Total of 188 subjects who had received a bone density test at least once were included in the study. Korean National Health and Nutrition Examination Survey (KNHANES) was used for achieving bone mineral density (BMD) of normal control group. Student’s t-test, MannWhitney U test, ANOVA and correlation analysis were performed using SPSS 18.0. @*Results@#Each BMD measurement was significantly lower in women with TS than in healthy Korean women. Early start and longer duration of ERT is associated with higher lumbar spine BMD but not femur neck BMD. Femur neck BMD, but not lumbar spine BMD was significantly higher in women with mosaicism than 45XO group. @*Conclusion@#Early onset and appropriate duration of hormone replacement therapy is important for increasing bone mineral density in patients with Turner syndrome. Also, ERT affects differently to TS patients according to mosaicism.
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BACKGROUND@#A protocol for using human endometrium derived induced pluripotent stem cells (iPSCs) to derive hematopoietic and erythroid lineages will be elaborated, through a two-phase culture system. @*METHODS@#Discarded endometrial tissues were obtained from women receiving hysterectomy in their 4th to 5th decade due to benign uterine conditions. pCE-Sox2, Oct4, Klf4, L-Myc and Lin28 episomal vectors were used to electrotransfect the endometrial stromal cells. The first 8 days involves commitment to hematopoietic stem cells through embryoid body with robust expansion on murine bone marrow stromal cells. The second phase involves feeder free conditions with hydrocortisone, stem cell factor, interleukin-3, and recombinant EPO. After 22 days of feeder free culture, the expression profiles of CD235a+ , CD34+ , CD43+ and CD 71+ were analyzed by flow cytometry and Wright-Giemsa staining for differential counting. The oxygen carrying capacity of cultured RBCs was measured using a hemoxanalyser. @*RESULTS@#As a result of inducing these cells via co-culture with murine stromal fibroblasts, all endometrium derived iPSCs were differentiated into erythroblasts with a stable yield of approximately 80% for polychromatic and orthochromatic normoblasts. The protocol for complete induction of erythroid lineage cells starting from human endometrial tissue via iPS cells has been optimized. @*CONCLUSION@#Successful directed erythroid differentiation has occurred from human endometrium-derived iPS cells. A comprehensive process of actually deriving iPS cells using discarded surgical hysterectomy specimens to the erythroid fate has significance in that the scope of using human iPSC cell lines for tissue regeneration could be expanded in the future.
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Background@#We evaluated the protective effects of melatonin against high-fat diet (HFD)-induced deterioration of bone microarchitecture using high-resolution peripheral quantitative computed tomography (HR-pQCT). @*Methods@#Four-week-old male C57BL/6 mice were divided into control (chow diet group), HFD, and HFD + melatonin-administered groups. Mice were sacrificed after 14 weeks, and the right femur was extracted. The microskeletal structure of the femur was analyzed using SkyScan1173 (version 1.6). A 3-dimensional image was reconstructed using the Nrecon (version 1.7.0.4) program. @*Results@#Bone volume (BV) was significantly increased in the HFD group compared with that in the normal diet group, and that of the melatonin group also increased significantly compared with BV of the normal diet group (p<0.05). Percent BV/total volume [TV] and bone surface/BV were significantly higher in both the HFD and melatonin groups than in the normal diet group (p<0.05), and the melatonin group had the highest BV/total volume (TV). BMD was lower in the HFD than in the normal diet group and was the highest in the melatonin group. @*Conclusions@#This study shows that melatonin inhibited the deterioration of microarchitecture induced by a HFD. A better understanding of the protective effect of melatonin on bone microarchitecture and mechanisms could provide fracture prevention for people who are obese.
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In recent years, the demand for fertility preservation for both oncologic and nononcologic reasons, as well as for personal reasons, has increased dramatically.Current Concepts: Currently, embryo and oocyte cryopreservation after ovarian stimulation are the mainstays of fertility preservation treatment in women. Embryo cryopreservation is an established and the most successful method of fertility preservation when sufficient time (approximately 2 weeks) is available to perform ovarian stimulation. Recent advances in freezing techniques (vitrification) have significantly improved the outcomes from oocyte cryopreservation that are comparable with those from embryo cryopreservation.Discussion and Conclusion: This review focuses on the indications for the two techniques of fertility preservation and their results. For women to receive timely opportunities to preserve fertility, it is necessary to raise awareness among all medical departments and the public.
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Purpose@#This study aimed to elucidate whether microRNA-139-5p is involved in the pathogenesis of uterine leiomyoma. @*Materials and Methods@#Human leiomyoma and matched human smooth muscle samples were obtained from 10 women who underwent hysterectomy for uterine leiomyoma. MicroRNA (miRNA) expression was analyzed by quantitative real-time polymerase chain reaction. To assess the effects of miR-139-5p on cultured leiomyoma cells, cell migration, collagen gel contraction, wound healing, and the expression levels of hallmark proteins were evaluated in cells transfected with a miR-139-5p mimic. @*Results@#The expression of miR-139-5p was significantly lower in leiomyoma tissues than in matched smooth muscle tissues. Restored miR-139-5p expression in miR-139-5p mimic-transfected human leiomyoma cells resulted in decreased contractility of the ECM and cell migration. In addition, upregulation of miR-139-5p decreased the protein expression of collagen type 1 and phosphorylated p38 MAPK. @*Conclusion@#Expression of miR-139-5p is downregulated in leiomyoma cells and modulation of miR-139-5p may be involved in the pathogenesis of leiomyomas through the regulation of collagen type 1 and phosphorylated p38 MAPK. Therefore, miR-139-5p is a potential therapeutic target for leiomyoma.
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Objectives@#It is well known that type 2 diabetes (T2DM) is dramatically improved after bariatric surgery, although the mechanisms have not been clearly identified. The skill required for gastric surgery for gastric cancer is very similar to that needed in bariatric surgery. In this study, we evaluated the immediate improvement of T2DM after gastrectomy for gastric cancer. @*Methods@#A total of nine patients who were diagnosed with early gastric cancer (EGC) and already had T2DM underwent a 75 g oral glucose tolerance test (OGTT) before surgery and within two weeks after gastrectomy. Glucose, insulin, and c-peptide were measured before, and 30 and 60 minutes after ingesting 75 g of glucose. From these trials, we calculated the HOMA-IR, insulinogenic index, Matsuda index, and area under the curve (AUC). @*Results@#The mean age of participants was 57.23 ± 11.08 years and eight of them were men. HOMA-IR (4.2 vs. 2.3, P = 0.012) levels were decreased after surgery. There were no significant differences of insulinogenic index, fasting blood sugar before and after surgery. The Matsuda index (3.3 vs. 8.3, P = 0.002) was significantly increased and AUC (512.9 vs. 388.7 mg-hr/dL, P > 0.001) upon 75 g OGTT was significantly decreased after surgery. @*Conclusions@#Insulin sensitivity was immediately improved after gastrectomy for early gastric cancer in patients with T2DM.
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Purpose@#This study aimed to elucidate whether microRNA-139-5p is involved in the pathogenesis of uterine leiomyoma. @*Materials and Methods@#Human leiomyoma and matched human smooth muscle samples were obtained from 10 women who underwent hysterectomy for uterine leiomyoma. MicroRNA (miRNA) expression was analyzed by quantitative real-time polymerase chain reaction. To assess the effects of miR-139-5p on cultured leiomyoma cells, cell migration, collagen gel contraction, wound healing, and the expression levels of hallmark proteins were evaluated in cells transfected with a miR-139-5p mimic. @*Results@#The expression of miR-139-5p was significantly lower in leiomyoma tissues than in matched smooth muscle tissues. Restored miR-139-5p expression in miR-139-5p mimic-transfected human leiomyoma cells resulted in decreased contractility of the ECM and cell migration. In addition, upregulation of miR-139-5p decreased the protein expression of collagen type 1 and phosphorylated p38 MAPK. @*Conclusion@#Expression of miR-139-5p is downregulated in leiomyoma cells and modulation of miR-139-5p may be involved in the pathogenesis of leiomyomas through the regulation of collagen type 1 and phosphorylated p38 MAPK. Therefore, miR-139-5p is a potential therapeutic target for leiomyoma.
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Theca lutein cysts are rare, benign lesions responsible for gross cystic enlargement of both ovaries during pregnancy. This condition is also termed hyperreactio luteinalis. Elevated human chorionic gonadotropin (hCG) levels or states of hCG hypersensitivity seem to promote these changes, which in up to 30% of patients produce clinical signs of hyperandrogenism. Given the self-limiting course of theca lutein cysts, which are subject to spontaneous postpartum resolution, conservative treatment is the mainstay of patient management. Described herein is a rare case of theca lutein cysts with maternal virilization that failed to regress by 9 months after childbirth. Surgical intervention was eventually undertaken, necessitated by adnexal torsion.
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Advances in anticancer treatments have resulted in increasing survival rates among cancer patients. Accordingly, the quality of life after treatment, particularly the preservation of fertility, has gradually emerged as an essential consideration. Cryopreservation of embryos or unfertilized oocytes has been considered as the standard method of fertility preservation among young women facing gonadotoxic chemotherapy. Other methods, including ovarian suppression and ovarian tissue cryopreservation, have been considered experimental. Recent large-scale randomized controlled trials have demonstrated that temporary ovarian suppression using gonadotropin-releasing hormone agonists (GnRHa) during chemotherapy is beneficial for preventing chemotherapy-induced premature ovarian insufficiency in breast cancer patients. It should also be emphasized that GnRHa use during chemotherapy does not replace established fertility preservation methods. All young women facing gonadotoxic chemotherapy should be counseled about and offered various options for fertility preservation, including both GnRHa use and cryopreservation of embryos, oocytes, and/or ovarian tissue.
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Objectives@#It is well known that type 2 diabetes (T2DM) is dramatically improved after bariatric surgery, although the mechanisms have not been clearly identified. The skill required for gastric surgery for gastric cancer is very similar to that needed in bariatric surgery. In this study, we evaluated the immediate improvement of T2DM after gastrectomy for gastric cancer. @*Methods@#A total of nine patients who were diagnosed with early gastric cancer (EGC) and already had T2DM underwent a 75 g oral glucose tolerance test (OGTT) before surgery and within two weeks after gastrectomy. Glucose, insulin, and c-peptide were measured before, and 30 and 60 minutes after ingesting 75 g of glucose. From these trials, we calculated the HOMA-IR, insulinogenic index, Matsuda index, and area under the curve (AUC). @*Results@#The mean age of participants was 57.23 ± 11.08 years and eight of them were men. HOMA-IR (4.2 vs. 2.3, P = 0.012) levels were decreased after surgery. There were no significant differences of insulinogenic index, fasting blood sugar before and after surgery. The Matsuda index (3.3 vs. 8.3, P = 0.002) was significantly increased and AUC (512.9 vs. 388.7 mg-hr/dL, P > 0.001) upon 75 g OGTT was significantly decreased after surgery. @*Conclusions@#Insulin sensitivity was immediately improved after gastrectomy for early gastric cancer in patients with T2DM.
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Objectives@#The microRNAs (miRNAs) are known to be commonly expressed in papillary thyroid carcinoma. The BRAFV600Emutation is the most common genetic mutation in thyroid cancer. The main aim of this study was to determine the possible association between expression of the three miRNAs and that of BRAFV600E mutation and the clinicopathological features in papillary thyroid carcinoma. @*Methods@#This study was conducted on 51 paraffin-embedded tissues (42 thyroid cancer, 9 benign tumor) obtained from patients undergoing thyroidectomy at the Endocrine Center of OOO University Hospital. @*Results@#miRNAs expression was significantly high in patients with cervical lymph node metastasis and advanced TNM stage. In addition, miR-146b expression levels were significantly higher in papillary thyroid carcinoma patients with BRAFV600E mutation. The relative quantification (2-△△Ct) of miR-146b was also high among the miRNAs. Individually, the AUCs for miRNA-146b was 0.923 (cutoff value -1.97, sensitivity 88.9%, specificity 85.7%). @*Conclusions@#Especially, expression of miR-146b increased higher in PTC patients with BRAFV600Emutation. These findings showed a role of miR-146b as potential biomarkers in differentiating PTC from benign tumor and as a prognostic indicator of PTCs. Further investigation will need for the roles of miRNAs in the pathogenesis of papillary thyroid carcinomas.
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BACKGROUND@#There is limited information regarding the optimal third-line therapy for managing type 2 diabetes mellitus (T2DM) that is inadequately controlled using dual combination therapy. This study assessed the efficacy and safety of pioglitazone or glimepiride when added to metformin plus alogliptin treatment for T2DM.@*METHODS@#This multicenter, randomized, active-controlled trial (ClinicalTrials.gov: NCT02426294) recruited 135 Korean patients with T2DM that was inadequately controlled using metformin plus alogliptin. The patients were then randomized to also receive pioglitazone (15 mg/day) or glimepiride (2 mg/day) for a 26-week period, with dose titration was permitted based on the investigator's judgement.@*RESULTS@#Glycosylated hemoglobin levels exhibited similar significant decreases in both groups during the treatment period (pioglitazone: −0.81%, P<0.001; glimepiride: −1.05%, P<0.001). However, the pioglitazone-treated group exhibited significantly higher high density lipoprotein cholesterol levels (P<0.001) and significantly lower homeostatic model assessment of insulin resistance values (P<0.001). Relative to pioglitazone, adding glimepiride to metformin plus alogliptin markedly increased the risk of hypoglycemia (pioglitazone: 1/69 cases [1.45%], glimepiride: 14/66 cases [21.21%]; P<0.001).@*CONCLUSION@#Among patients with T2DM inadequately controlled using metformin plus alogliptin, the addition of pioglitazone provided comparable glycemic control and various benefits (improvements in lipid profiles, insulin resistance, and hypoglycemia risk) relative to the addition of glimepiride.
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Feminino , Humanos , Gravidez , Aborto Induzido , Aborto Retido , Dilatação , Saco Gestacional , Histeroscopia , Primeiro Trimestre da Gravidez , Ultrassonografia , ÚteroRESUMO
A 51-year-old perimenopausal female patient presented with hirsutism and voice thickening which was started approximately one and a half years ago. Her initial hormone assay revealed elevated plasma testosterone, 5a-dihydrotestosterone, and dehydroepiandrosterone (DHEA) levels and therefore androgen-secreting tumor was first suspected. However, the lesion was inconspicuous on transvaginal sonography, abdominal-pelvic computed tomography (CT) scan, and pelvic magnetic resonance (MRI) imaging. Consequently, 18F-fluorodeoxyglucose (FDG) positron emission tomography-CT was performed, which localized the lesion as a focal FDG uptake within the right adnexa. Total laparoscopic hysterectomy with bilateral salpingo-oophorectomy was performed, and although visible gross mass lesions were not observed intraoperatively, pure Leydig cell tumor was pathologically confirmed within the right ovary. Plasma testosterone, 5a-dihydrotestosterone, and DHEA levels were normalized postoperatively. Clinical signs of virilization were also significantly resolved after 3-months of follow-up.
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Feminino , Humanos , Pessoa de Meia-Idade , Desidroepiandrosterona , Diagnóstico , Elétrons , Seguimentos , Hirsutismo , Histerectomia , Tumor de Células de Leydig , Ovário , Plasma , Tumor de Células de Sertoli-Leydig , Testosterona , Virilismo , VozRESUMO
OBJECTIVE: The aim of this study was to present experiences in localization and removal of non-palpable subdermal contraceptive implants with ultrasonography. METHODS: Medical records from January 1, 2016, to April 30, 2018, were retrospectively reviewed for 21 patients who were referred to a single institution and had an impalpable implant despite following the removal instruction. In all the cases, more than one attempt was made to remove the implant before referral. The rod was detected using radiography and ultrasonography. In all the cases, localization of the single implant was achieved with ultrasonography. The distal depth of the rod was measured, and skin marking was made following the echogenicity. The implants were subsequently removed under anesthesia. RESULTS: In 18 cases, the rods were localized using ultrasonography and successfully removed under local anesthesia. In the other three cases, removal with local anesthesia failed. Although the rod was detected successful with ultrasonography, the implants were removed under general anesthesia in the operating room. The depth from skin to rod, measured with ultrasonography, was >12.0 mm in all the cases and located deep in the muscular layer in the failure cases. The depth of the implants positively correlated with the time spent for removal (r=0.525; P=0.015). CONCLUSION: High frequency ultrasonography is a highly accurate tool for localization and measurement of the skin-to-rod depth. It is also useful for removing non-palpable implants. If the depth of the implant is >12.0 mm, removal of the implant in the operating room under general anesthesia is recommended.
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Humanos , Anestesia , Anestesia Geral , Anestesia Local , Anticoncepção , Remoção de Dispositivo , Prontuários Médicos , Salas Cirúrgicas , Radiografia , Encaminhamento e Consulta , Estudos Retrospectivos , Pele , UltrassonografiaRESUMO
OBJECTIVES: Many of the patients with type 2 diabetes are associated with sleep problems, and the rate of insomnia is known to be higher in the general population. The aims of this study were to know the frequency and clnical characteristics of insomnia, and related variables to insomnia in patients diagnosed with type 2 diabetes. METHODS: For 99 patients from 18 to 80 years of age (65 males and 34 females) with type 2 diabetes, interviews were performed. Total sleep time and sleep latency was evaluated. Insomnia was evaluated using the Korean Version of the Insomnia Severity Index (ISI-K). Severity of depressive symptoms were evaluted using the Korean version of the Hamilton Depression Scale (K-HDRM). According to the cutoff score of 15.5 on the ISI-K, subjects were divided into the group of type 2 diabetics with insomnia (N=34) and those without insomnia (N=65) at first, and then statistically analyzed. RESULTS: TInsomnia could be found in 34.34% of type 2 diabetics. Type 2 diabetics with insomnia had significantly more single or divorced (respectively 11.8%, p<0.05), higher total scores of the K-HDRS (11.76±5.52, p<0.001), shorter total sleep time (5.35±2.00 hours, p<0.001), and longer sleep latency (50.29±33.80 minutes, p<0.001). The all item scores of the ISI-K in type 2 diabetics with insomnia were significantly higher than those in type 2 diabetics without insomnia, that is, total (18.38±2.69), A1 (Initial insomnia) (2.97±0.76), A2 (Middle insomnia) (3.06±0.69), A3 (Terminal insomnia) (2.76±0.61), B (Satisfaction) (3.18±0.72), C (Interference) (2.09±0.97), D (Noticeability) (2.12±1.09) and E (Distress) (2.21±0.81) (respectively p<0.001). Variables associated with insomnia in type 2 diabetics were as following. Age had significant negative correlation with A3 items of the ISI-K (β=−0.241, p<0.05). Total scores of the K-HDRS had significant positive correlation, while total sleep time had significant negative correlation with all items of the ISI-K (respectively p<0.05). Sleep latency had significant positive correlation with total,, A1, B and E item scores of the ISI-K (respectively p<0.05). CONCLUSIONS: Insomnia was found in about 1/3 of type 2 diabetics. According to the presence of insomnia, clinical characteristics including sleep quality as well as quantity seemed to be different. Because depression seemed to be correlated with insomnia, clinicians should pay attention to early detection and intervention of depression among type 2 diabetics
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Humanos , Masculino , Depressão , Divórcio , Distúrbios do Início e da Manutenção do SonoRESUMO
OBJECTIVE: This study was aimed at identifying a correlation between polycystic ovarian morphology (PCOM) and the severity of primary dysmenorrhea in young Korean women. METHODS: A total of 592 patients who visited a tertiary hospital from March 2008 to March 2015 for dysmenorrhea were examined. After excluding those with secondary causes of menstrual pain (for example, myoma, adenomyosis, endometriosis, and pelvic inflammatory disease), 361 women were recruited and retrospectively analyzed. Severe dysmenorrhea was defined as a visual analog scale (VAS) score ≥6. RESULTS: The mean patient age was 23.0±4.0 years, the average menstrual cycle length was 34.4±23.7 days, and the average pain intensity was VAS 6.7±0.1 at baseline. PCOM was assessed by ultrasound in 54 women (15%). Patients with severe menstrual pain were more likely to have irregular menstrual cycles (P=0.03) and heavy menstrual flow (P=0.01) than those with mild menstrual pain. After adjusting for weight, height, menstrual cycle interval, and menstrual flow in the logistic regression analysis, PCOM (odds ratio [OR], 2.26; 95% confidence interval [CI], 1.05–4.97; P=0.04) and heavy menstrual flow (OR, 1.85; 95% CI, 1.05–3.28; P=0.04) were found to be significant independent factors influencing pain. CONCLUSION: Our study shows that PCOM may have a correlation with the severity of primary dysmenorrhea. Since PCOM may play a role in the development of menstrual pain, patients with PCOM should be under active surveillance with resources for prompt pain management readily available. It may also be necessary to further investigate the molecular mechanisms of pain development in primary dysmenorrhea.
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Feminino , Humanos , Adenomiose , Dismenorreia , Endometriose , Modelos Logísticos , Ciclo Menstrual , Distúrbios Menstruais , Mioma , Manejo da Dor , Síndrome do Ovário Policístico , Estudos Retrospectivos , Centros de Atenção Terciária , Ultrassonografia , Escala Visual AnalógicaRESUMO
OBJECTIVES: The aims of this study were to know the frequency and the nature of cognitive dysfunction in type 2 diabetics, and to reveal influencing variables on it. METHODS: From eighty type 2 diabetics (42 males and 38 females), demographic and clinical data were obtained by structured interviews. Cognitive functions were measured using the MMSE-K (Korean Version of the Mini-Mental State Examination) and the Korean Version of the Montreal Cognitive Assessment (MoCA-K) tests. Severity of depression was evaluated by the Korean Version of the Hamilton Depression Rating Scale (K-HDRS). RESULTS: 1) Among eighty type 2 diabetics, 13.75% were below 24 on the MMSE-K, while 38.8% were below 22 on the MoCA-K. 2) The total scores and subtest scores of the MoCA-K including visuospatial/executive, attention, language, delayed recall and orientation were significantly lower in type 2 diabetics with cognitive dysfunction (N=31) than those without cognitive dysfunction (N=49) (p < 0.001, respectively). 3) There were significant difference between type 2 diabetics with and those without cognitive dysfunction in age, education, economic status, body mass index, duration of diabetes, total scores of the K-HDRS, the MMSE-K and the MoCA-K (p < 0.05, respectively). 4) The total scores of the MoCA-K had significant correlation with age, education, body mass index, family history of diabetes, duration of diabetes, total scores of the K-HDRS (p < 0.05, respectively). 5) The risks of cognitive dysfunction in type 2 diabetics were significantly influenced by sex, education, fasting plasma glucose and depression. CONCLUSIONS: The cognitive dysfunction in type 2 diabetics seemed to be related to multiple factors. Therefore, more comprehensive biopsychosocial approaches needed for diagnosis and management of type 2 diabetes.
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Humanos , Masculino , Glicemia , Índice de Massa Corporal , Cognição , Depressão , Diagnóstico , Educação , JejumRESUMO
OBJECTIVES: Iodine deficiency causes multiple health problems. Previously we reported that 96% of high school students in Tuguegarao, Philippines had adequate iodine levels. However, iodine deficiency-associated problems remain among adults in the Philippines. Therefore, we evaluated iodine nutritional status and goiter prevalence among adults, including pregnant women, in Tuguegarao, Philippines. METHODS: A total of 245 adults, including 31 pregnant women, provided samples for urinary iodine analysis, and all pregnant women completed a questionnaire about iodine deficiency. RESULTS: The median urinary iodine level was 164.0 ± 138.4 µg/L; 38.4% of the participants were iodine deficient, according to the International Council for Control of Iodine Deficiency Disorders (ICCIDD) criteria. No severe iodine deficiency was observed. Among the 31 pregnant women, 24 (77.5%) fell into the iodine deficient category defined by a stricter World Health Organization (WHO) guideline, in which iodine deficiency is considered when urinary iodine levels are below 150 µg/L. Almost half (42%) of the pregnant women were unaware of the harmful effects of iodine deficiency on the human body and their fetus. CONCLUSIONS: Although iodine nutritional status in the Philippines has improved, iodine deficiency still exists among adults, especially among pregnant women. Therefore, our study strongly suggests that a better strategy should be established to monitor iodine nutritional status among adults continually, and to focus on populations susceptible to iodine deficiency, including pregnant women and women of reproductive age, to achieve the total elimination of iodine deficiency.
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Adulto , Feminino , Humanos , Feto , Bócio , Corpo Humano , Iodo , Estado Nutricional , Filipinas , Gestantes , Prevalência , Organização Mundial da SaúdeRESUMO
OBJECTIVES: Ultrasound-guided fine-needle aspiration (FNA) is routinely used in the evaluation of thyroid nodules. However, it has several pitfalls, as has been noted in nondiagnostic and indeterminate cases. This study aims to investigate the value of BRAF(V600E) mutation co-testing in FNA cytology. METHOD: A total of 310 patients underwent BRAF(V600E) mutation co-testing in FNA cytology on thyroid nodules between June 2013 and June 2014. Of the 310 patients, 69 patients who had undergone a surgery for thyroid nodules were included in this study. The presence of the BRAF(V600E) mutation was determined by allele-specific polymerase chain reaction amplification of exon 15 of the BRAF gene. RESULTS: Of 69 cases, 33 (47.8%) were BRAF(V600E) mutation positive. The BRAF(V600E) mutation was not significantly associated with high-risk features such as tumor size, lymph node metastasis, and pathological stage. The respective diagnostic performance of FNA (P = 0.02), BRAF(V600E) mutation (P = 0.03), and ultrasonographic (P = 0.00) findings was statistically significant. The sensitivity, specificity and positive predictive value of FNA was 64.9%, 83.3%, and 94.8%. The sensitivity, specificity and positive predictive value of BRAF(V600E) mutation was 56.1%, 91.7%, and 96.9% and the US features was 91.2%, 91.7%, and 98.1% respectively. However, sensitivity of FNA with BRAF(V600E) mutation (77.2%) was lower than FNA with US (92.9%) and combination all together (92.9%). CONCLUSION: In this study, we found that US features were the most useful in preoperative differential diagnosis of thyroid nodules. BRAF(V600E) mutation co-testing in FNA cytology was also useful for diagnosis of thyroid tumors.