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Objectives@#The objective of this study was to develop and validate a multicenter-based, multi-model, time-series deep learning model for predicting drug-induced liver injury (DILI) in patients taking angiotensin receptor blockers (ARBs). The study leveraged a national-level multicenter approach, utilizing electronic health records (EHRs) from six hospitals in Korea. @*Methods@#A retrospective cohort analysis was conducted using EHRs from six hospitals in Korea, comprising a total of 10,852 patients whose data were converted to the Common Data Model. The study assessed the incidence rate of DILI among patients taking ARBs and compared it to a control group. Temporal patterns of important variables were analyzed using an interpretable timeseries model. @*Results@#The overall incidence rate of DILI among patients taking ARBs was found to be 1.09%. The incidence rates varied for each specific ARB drug and institution, with valsartan having the highest rate (1.24%) and olmesartan having the lowest rate (0.83%). The DILI prediction models showed varying performance, measured by the average area under the receiver operating characteristic curve, with telmisartan (0.93), losartan (0.92), and irbesartan (0.90) exhibiting higher classification performance. The aggregated attention scores from the models highlighted the importance of variables such as hematocrit, albumin, prothrombin time, and lymphocytes in predicting DILI. @*Conclusions@#Implementing a multicenter-based timeseries classification model provided evidence that could be valuable to clinicians regarding temporal patterns associated with DILI in ARB users. This information supports informed decisions regarding appropriate drug use and treatment strategies.
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Background@#This study aims to elucidate the associations among dietary seaweed (gim and miyeok/dashima) and iodine intakes, the rs77277498 polymorphism of the SLC5A5 gene codifying the sodium/iodine symporter, and thyroid cancer risk in a Korean population. @*Methods@#We conducted a case-control study of 117 thyroid cancer cases and 173 controls who participated in the Cancer Screenee Cohort between 2002 and 2014 at the National Cancer Center, Korea. The amount of seaweed and iodine consumption (g/day) was estimated using the residual energy adjustment method. We calculated odds ratios (ORs) and their 95% confidence intervals (CIs) using a multivariable logistic regression model for the separate and combined effect of dietary iodine-based intake and SLC5A5 polymorphism (rs77277498, C>G) on thyroid cancer. @*Results@#Dietary gim and iodine intakes were inversely associated with thyroid cancer, with ORs of 0.50 (95% CI, 0.30 to 0.83) and 0.57 (95% CI, 0.35 to 0.95), respectively, whereas the associations for dietary miyeok/dashima and total seaweed intakes were not significant. However, compared with individuals carrying the C/C genotype of the rs77277498 polymorphism with a low intake of all dietary factors, those carrying the G allele with a high intake had a lower risk of thyroid cancer, with ORs of 0.25 (95% CI, 0.10 to 0.56), 0.31 (95% CI, 0.12 to 0.77), 0.26 (95% CI, 0.10 to 0.62), and 0.30 (95% CI, 0.12 to 0.73) for the consumption of gim, miyeok/dashima, total seaweed, and iodine, respectively. @*Conclusion@#In summary, our results supported the evidence of the protective effects of dietary gim and iodine intake against thyroid cancer risk, and this association can be strengthened by SLC5A5 rs77277498 genotypes.
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Background/Aims@#Meta-analyses of randomized trials reported a non-significant increase in overall mortality risk after Helicobacter pylori eradication. In this study, we investigated whether H. pylori treatment is associated with increased risk of overall mortality in patients with type 2 diabetes. @*Methods@#In this retrospective population-based cohort study, we identified 66,706 patients treated for type 2 diabetes between 2002 and 2010 from the Korean National Health Insurance Service-National Sample Cohort. Patients who received H. pylori treatment (Hp-treatment cohort, 1,727 patients) were matched to those who did not (non-treatment cohort, 3,454 patients) at a 1:2 ratio. The primary outcome was overall mortality. The secondary outcomes were mortalities due to cardiovascular disease, cerebrovascular disease, or cancers. To estimate hazard ratio (HR) with confidential interval (CI), we used the Cox proportional-hazard model. @*Results@#During a median follow-up of 4.7 years, the overall mortality was 5.9% (101/1,727 patients) among patients in the Hp-treatment cohort and 7.6% (364/3,454 patients) among patients in the non-treatment cohort. Adjusted HR (aHR) for overall mortality in the Hp-treatment cohort was 0.74 (95% CI, 0.59 to 0.93; p = 0.011). The mortality risks due to cardiovascular disease (aHR, 1.34; 95% CI, 0.54 to 3.30; p = 0.529), cerebrovascular disease (aHR, 0.97; 95% CI, 0.37 to 2.55; p = 0.947), and cancer (aHR, 1.08; 95% CI, 0.68 to 1.72; p = 0.742) were not significantly different between the groups. @*Conclusions@#In type 2 diabetes patients, overall mortality did not increase after H. pylori treatment.
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Objectives@#Along with the exponentially-growing data produced and accumulated every day through mobile platforms, social networking services, the Internet, and other media, information is becoming increasingly important as a strategic resource. This report presents specific and clear directions and suggests empirical project plans regarding innovations in regional health information systems to promote the utilization of medical information. @*Methods@#We reviewed and examined documents about global trends and examples of regional health information systems. The problems and solutions of health information utilization and regional health information systems in Korea were analyzed. @*Results@#This study presented examples of the establishment of health information systems, problems in the use of local healthcare information, and an empirical project for improvement. @*Conclusions@#The results of this study imply the need for long-term and systematic approaches for the use of medical information and the establishment of a local healthcare information system, along with implementation plans. As a first step, it is imperative to clarify the goal of building a medical information system, the information that must be provided to build the system, and the data that should be collected to provide such information, while moving away from the mentality of focusing on technology-oriented medical information services. In addition, it is necessary to consider information governance, data-based service development, and the medical innovation framework, which are ways to efficiently manage, utilize, and systemize the data to be collected.
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Purpose@#Obesity has been determined to be associated with fat mass and obesity-associated (FTO) gene and thyroid cancer risk. However, the effect of combined interactions between obesity and the FTO gene on thyroid cancer needs further investigation. This study aimed to examine whether interactions between body mass index (BMI) and the FTO gene are associated with an increased risk of thyroid cancer. @*Materials and Methods@#A total of 705 thyroid cancer cases and 705 sex- and age-matched normal controls were selected from the Cancer Screenee Cohort in National Cancer Center, Korea. A conditional logistic regression model was used to calculate the odds ratios (ORs) and 95% confidence intervals (CIs) for the measure of associations and the combined effect of BMI and FTO gene on thyroid cancer. @*Results@#BMI was associated with an increased risk of thyroid cancer in subclasses of overweight (23-24.9 kg/m2; adjusted OR, 1.50; 95% CI, 1.12 to 2.00) and obese (≥ 25 kg/m2) (adjusted OR, 1.62; 95% CI, 1.23 to 2.14). There were positive associations between the FTO genetic variants rs8047395 and rs8044769 and an increased risk of thyroid cancer. Additionally, the combination of BMI subclasses and FTO gene variants was significantly associated with thyroid cancer risk in the codominant (rs17817288), dominant (rs9937053, rs12149832, rs1861867, and rs7195539), and recessive (rs17817288 and rs8044769) models. @*Conclusion@#Findings from this study identified the effects of BMI on thyroid cancer risk among individuals carrying rs17817288, rs9937053, rs12149832, rs1861867, rs7195539, and rs8044769, whereas the effects of BMI may be modified according to individual characteristics of other FTO variants.
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Background/Aims@#Meta-analyses of randomized trials reported a non-significant increase in overall mortality risk after Helicobacter pylori eradication. In this study, we investigated whether H. pylori treatment is associated with increased risk of overall mortality in patients with type 2 diabetes. @*Methods@#In this retrospective population-based cohort study, we identified 66,706 patients treated for type 2 diabetes between 2002 and 2010 from the Korean National Health Insurance Service-National Sample Cohort. Patients who received H. pylori treatment (Hp-treatment cohort, 1,727 patients) were matched to those who did not (non-treatment cohort, 3,454 patients) at a 1:2 ratio. The primary outcome was overall mortality. The secondary outcomes were mortalities due to cardiovascular disease, cerebrovascular disease, or cancers. To estimate hazard ratio (HR) with confidential interval (CI), we used the Cox proportional-hazard model. @*Results@#During a median follow-up of 4.7 years, the overall mortality was 5.9% (101/1,727 patients) among patients in the Hp-treatment cohort and 7.6% (364/3,454 patients) among patients in the non-treatment cohort. Adjusted HR (aHR) for overall mortality in the Hp-treatment cohort was 0.74 (95% CI, 0.59 to 0.93; p = 0.011). The mortality risks due to cardiovascular disease (aHR, 1.34; 95% CI, 0.54 to 3.30; p = 0.529), cerebrovascular disease (aHR, 0.97; 95% CI, 0.37 to 2.55; p = 0.947), and cancer (aHR, 1.08; 95% CI, 0.68 to 1.72; p = 0.742) were not significantly different between the groups. @*Conclusions@#In type 2 diabetes patients, overall mortality did not increase after H. pylori treatment.
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Objectives@#Along with the exponentially-growing data produced and accumulated every day through mobile platforms, social networking services, the Internet, and other media, information is becoming increasingly important as a strategic resource. This report presents specific and clear directions and suggests empirical project plans regarding innovations in regional health information systems to promote the utilization of medical information. @*Methods@#We reviewed and examined documents about global trends and examples of regional health information systems. The problems and solutions of health information utilization and regional health information systems in Korea were analyzed. @*Results@#This study presented examples of the establishment of health information systems, problems in the use of local healthcare information, and an empirical project for improvement. @*Conclusions@#The results of this study imply the need for long-term and systematic approaches for the use of medical information and the establishment of a local healthcare information system, along with implementation plans. As a first step, it is imperative to clarify the goal of building a medical information system, the information that must be provided to build the system, and the data that should be collected to provide such information, while moving away from the mentality of focusing on technology-oriented medical information services. In addition, it is necessary to consider information governance, data-based service development, and the medical innovation framework, which are ways to efficiently manage, utilize, and systemize the data to be collected.
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Purpose@#Obesity has been determined to be associated with fat mass and obesity-associated (FTO) gene and thyroid cancer risk. However, the effect of combined interactions between obesity and the FTO gene on thyroid cancer needs further investigation. This study aimed to examine whether interactions between body mass index (BMI) and the FTO gene are associated with an increased risk of thyroid cancer. @*Materials and Methods@#A total of 705 thyroid cancer cases and 705 sex- and age-matched normal controls were selected from the Cancer Screenee Cohort in National Cancer Center, Korea. A conditional logistic regression model was used to calculate the odds ratios (ORs) and 95% confidence intervals (CIs) for the measure of associations and the combined effect of BMI and FTO gene on thyroid cancer. @*Results@#BMI was associated with an increased risk of thyroid cancer in subclasses of overweight (23-24.9 kg/m2; adjusted OR, 1.50; 95% CI, 1.12 to 2.00) and obese (≥ 25 kg/m2) (adjusted OR, 1.62; 95% CI, 1.23 to 2.14). There were positive associations between the FTO genetic variants rs8047395 and rs8044769 and an increased risk of thyroid cancer. Additionally, the combination of BMI subclasses and FTO gene variants was significantly associated with thyroid cancer risk in the codominant (rs17817288), dominant (rs9937053, rs12149832, rs1861867, and rs7195539), and recessive (rs17817288 and rs8044769) models. @*Conclusion@#Findings from this study identified the effects of BMI on thyroid cancer risk among individuals carrying rs17817288, rs9937053, rs12149832, rs1861867, rs7195539, and rs8044769, whereas the effects of BMI may be modified according to individual characteristics of other FTO variants.
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Growth hormone (GH) deficiency is caused by congenital or acquired causes and occurs in childhood or adulthood. GH replacement therapy brings benefits to body composition, exercise capacity, skeletal health, cardiovascular outcomes, and quality of life. Before initiating GH replacement, GH deficiency should be confirmed through proper stimulation tests, and in cases with proven genetic causes or structural lesions, repeated GH stimulation testing is not necessary. The dosing regimen of GH replacement therapy should be individualized, with the goal of minimizing side effects and maximizing clinical improvements. The Korean Endocrine Society and the Korean Society of Pediatric Endocrinology have developed a position statement on the diagnosis and treatment of GH deficiency. This position statement is based on a systematic review of evidence and expert opinions.
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No abstract available.
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PURPOSE: The purpose of this study was to develop a Korean version of the self-reported thyroid-specific quality of life (QoL) questionnaire for thyroid cancer patients (KT-QoL), and to evaluate its reliability and validity. MATERIALS AND METHODS: Two hundred seventy-two patients who underwent thyroidectomy from January to December 2010 were recruited in this study. The original version of the thyroid QoL was translated into Korean and evaluated for its reliability and validity. Using the developed KT-QoL, the postoperative QoL was evaluated until postoperative 1 year. RESULTS: At the preoperative baseline, the item internal consistency (IIC) ranged from −0.19 to 0.76, with low IIC values for items 2, 17, and 27. Item discriminant validity ranged from 86% to 97%. These values were similar at the postoperative periods. The internal consistency reliability (Cronbach's α) was high for all dimensions, ranging from 0.90 to 0.95. The test-retest reliability (intraclass correlation coefficient) was acceptable (0.74-0.82). The external validity examined by the correlation between the item 1j (voice changes) of KT-QoL and the voice handicap index-30 ranged from 0.51 to 0.75. Patients' QoL scores decreased after surgery, which demonstrated the sensitivity of the questionnaire. The QoL scores in patients with lobectomy showed best QoL scores postoperatively and those with receiving radioactive iodine still showed decreased QoL scores along the postoperative periods. CONCLUSION: These results demonstrate that KT-QoL is a valid instrument for evaluating QoL of Korean patients with thyroid cancer.
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Humanos , Iodo , Período Pós-Operatório , Qualidade de Vida , Reprodutibilidade dos Testes , Inquéritos e Questionários , Glândula Tireoide , Neoplasias da Glândula Tireoide , Tireoidectomia , VozRESUMO
Thyroid diseases, including autoimmune thyroid diseases and thyroid cancer, are known to have high heritability. Family and twin studies have indicated that genetics plays a major role in the development of thyroid diseases. Thyroid function, represented by thyroid stimulating hormone (TSH) and free thyroxine (T4), is also known to be partly genetically determined. Before the era of genome-wide association studies (GWAS), the ability to identify genes responsible for susceptibility to thyroid disease was limited. Over the past decade, GWAS have been used to identify genes involved in many complex diseases, including various phenotypes of the thyroid gland. In GWAS of autoimmune thyroid diseases, many susceptibility loci associated with autoimmunity (human leukocyte antigen [HLA], protein tyrosine phosphatase, non-receptor type 22 [PTPN22], cytotoxic T-lymphocyte associated protein 4 [CTLA4], and interleukin 2 receptor subunit alpha [IL2RA]) or thyroid-specific genes (thyroid stimulating hormone receptor [TSHR] and forkhead box E1 [FOXE1]) have been identified. Regarding thyroid function, many susceptibility loci for levels of TSH and free T4 have been identified through genome-wide analyses. In GWAS of differentiated thyroid cancer, associations at FOXE1, MAP3K12 binding inhibitory protein 1 (MBIP)-NK2 homeobox 1 (NKX2-1), disrupted in renal carcinoma 3 (DIRC3), neuregulin 1 (NRG1), and pecanex-like 2 (PCNXL2) have been commonly identified in people of European and Korean ancestry, and many other susceptibility loci have been found in specific populations. Through GWAS of various thyroid-related phenotypes, many susceptibility loci have been found, providing insights into the pathogenesis of thyroid diseases and disease co-clustering within families and individuals.
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Humanos , Autoimunidade , Genes Homeobox , Genética , Estudo de Associação Genômica Ampla , Doença de Graves , Doença de Hashimoto , Leucócitos , Neuregulina-1 , Fenótipo , Proteína Tirosina Fosfatase não Receptora Tipo 22 , Receptores de Interleucina-2 , Linfócitos T Citotóxicos , Doenças da Glândula Tireoide , Glândula Tireoide , Neoplasias da Glândula Tireoide , Tireotropina , TiroxinaRESUMO
BACKGROUND: The ongoing Multicenter Prospective Cohort Study of Active Surveillance on Papillary Thyroid Microcarcinoma (MAeSTro) aims to observe the natural course of papillary thyroid microcarcinoma (PTMC), develop a protocol for active surveillance (AS), and compare the long-term prognosis, quality of life, and medical costs between the AS and immediate surgery groups. METHODS: This multicenter prospective cohort study of PTMC started in June 2016. The inclusion criteria were suspicious of malignancy or malignancy based on fine needle aspiration or core needle biopsy, age of ≥18 years, and a maximum diameter of ≤1 cm. If there was no major organ involvement, no lymph node/distant metastasis, and no variants with poor prognosis, the patients were explained of the pros and cons of immediate surgery and AS before selecting AS or immediate surgery. Follow-up visits (physical examination, ultrasonography, thyroid function, and questionnaires) are scheduled every 6 months during the first 2 years, and then every 1 year thereafter. Progression was defined as a maximum diameter increase of ≥3, ≥2 mm in two dimensions, suspected organ involvement, or lymph node/distant metastasis. RESULTS: Among 439 enrolled patients, 290 patients (66.1%) chose AS and 149 patients (33.9%) chose immediate surgery. The median follow-up was 6.7 months (range, 0.2 to 11.9). The immediate surgery group had a larger maximum tumor diameter, compared to the AS group (7.1±1.9 mm vs. 6.6±2.0 mm, respectively; P=0.014). CONCLUSION: The results will be useful for developing an appropriate PTMC treatment policy based on its natural course and risk factors for progression.
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Humanos , Biópsia por Agulha Fina , Biópsia com Agulha de Grande Calibre , Estudos de Coortes , Seguimentos , Metástase Neoplásica , Prognóstico , Estudos Prospectivos , Qualidade de Vida , Fatores de Risco , Glândula Tireoide , Neoplasias da Glândula Tireoide , UltrassonografiaRESUMO
Hyperglycemia during chemotherapy occurs in approximately 10% to 30% of patients. Glucocorticoids and L-asparaginase are well known to cause acute hyperglycemia during chemotherapy. Long-term hyperglycemia is also frequently observed, especially in patients with hematologic malignancies treated with L-asparaginase-based regimens and total body irradiation. Glucocorticoid-induced hyperglycemia often develops because of increased insulin resistance, diminished insulin secretion, and exaggerated hepatic glucose output. Screening strategies for this condition include random glucose testing, hemoglobin A1c testing, oral glucose loading, and fasting plasma glucose screens. The management of hyperglycemia starts with insulin or sulfonylurea, depending on the type, dose, and delivery of the glucocorticoid formulation. Mammalian target of rapamycin (mTOR) inhibitors are associated with a high incidence of hyperglycemia, ranging from 13% to 50%. Immunotherapy, such as anti-programmed death 1 (PD-1) antibody treatment, induces hyperglycemia with a prevalence of 0.1%. The proposed mechanism of immunotherapy-induced hyperglycemia is an autoimmune process (insulitis). Withdrawal of the PD-1 inhibitor is the primary treatment for severe hyperglycemia. The efficacy of glucocorticoid therapy is not fully established and the decision to resume PD-1 inhibitor therapy depends on the severity of the hyperglycemia. Diabetic patients should achieve optimized glycemic control before initiating treatment, and glucose levels should be monitored periodically in patients initiating mTOR inhibitor or PD-1 inhibitor therapy. With regard to hyperglycemia caused by anti-cancer therapy, frequent monitoring and proper management are important for promoting the efficacy of anti-cancer therapy and improving patients' quality of life.
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Humanos , Glicemia , Tratamento Farmacológico , Jejum , Glucocorticoides , Glucose , Neoplasias Hematológicas , Hiperglicemia , Imunoterapia , Incidência , Insulina , Resistência à Insulina , Programas de Rastreamento , Prevalência , Qualidade de Vida , Sirolimo , Irradiação Corporal TotalRESUMO
BACKGROUND AND OBJECTIVES: We analyzed the clinicopathologic differences of thyroid cancer by diagnosis periods, diagnostic motives, residence history and clinical risk factors in thyroid cancer patients. MATERIALS AND METHODS: Total 1599 thyroid cancer patients who answered the questionnaires about family history of thyroid cancer, residence history including duration of residence and location were enrolled from two hospitals, Seoul National University Hospital and National Cancer Center in Korea. Demographics and environmental information were collected via questionnaires and clinical data were reviewed via electronic medical records. RESULTS: More thyroid cancer has been diagnosed in 2011 to 2013 by screening test without specific symptom than before 1990. The size of cancer at diagnosis was significantly smaller and multifocal tumor was more frequently found in 2011 to 2013 than before 1990 as well. The tumors of obese or overweight patients tended to harbor extrathyroidal extension and lymph node metastasis than normal weight subjects with statistical significance. However, there were no differences in clinicopathologic characteristics according to residence and smoking history. CONCLUSION: In this study, there were some different clinicopathologic characteristics according to the diagnosis era, diagnostic motives, family history of thyroid cancer and body mass index.
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Humanos , Índice de Massa Corporal , Demografia , Diagnóstico , Registros Eletrônicos de Saúde , Coreia (Geográfico) , Linfonodos , Programas de Rastreamento , Metástase Neoplásica , Sobrepeso , Fatores de Risco , Seul , Fumaça , Fumar , Glândula Tireoide , Neoplasias da Glândula TireoideRESUMO
BACKGROUND: Latent autoimmune diabetes in adults (LADA) refers to a specific type of diabetes characterized by adult onset, presence of islet auto-antibodies, insulin independence at the time of diagnosis, and rapid decline in beta-cell function. The prevalence of LADA among patients with type 2 diabetes varies from 2% to 20% according to the study population. Since most studies on the prevalence of LADA performed in Korea were conducted in patients who had been tested for anti-glutamic acid decarboxylase antibody (GADAb), a selection bias could not be excluded. In this study, we examined the prevalence and clinical characteristics of LADA among adult patients recently diagnosed with type 2 diabetes. METHODS: We included 462 patients who were diagnosed with type 2 diabetes within 5 years from the time this study was performed. We measured GADAb, fasting insulin level, fasting C-peptide level, fasting plasma glucose level, HbA1c, and serum lipid profiles and collected data on clinical characteristics. RESULTS: The prevalence of LADA was 4.3% (20/462) among adult patients with newly diagnosed type 2 diabetes. Compared with the GADAb-negative patients, the GADAb-positive patients had lower fasting C-peptide levels (1.2+/-0.8 ng/mL vs. 2.0+/-1.2 ng/mL, P=0.004). Other metabolic features were not significantly different between the two groups. CONCLUSION: The prevalence of LADA is 4.3% among Korean adult patients with recently diagnosed type 2 diabetes. The Korean LADA patients exhibited decreased insulin secretory capacity as reflected by lower C-peptide levels.
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Adulto , Humanos , Peptídeo C , Diabetes Mellitus Tipo 1 , Diabetes Mellitus Tipo 2 , Jejum , Glucose , Glutamato Descarboxilase , Insulina , Coreia (Geográfico) , Plasma , Prevalência , Viés de SeleçãoRESUMO
BACKGROUND: In approach to an adrenal incidentaloma, early exclusion of pheochromocytoma is clinically important, due to the risk of catecholamine crisis. The aims of this study are to investigate the characteristics of incidentally detected pheochromocytomas, compared with that of the other adrenal incidentalomas, and to compare these characteristics with those of symptomatic pheochromocytomas. METHODS: In this retrospective study, we reviewed the medical records of 198 patients with adrenal incidentaloma from 2001 to 2010. We analyzed the clinical, laboratory and radiological data of pheochromocytomas, in comparison with those of the other adrenal incidentalomas. We also compared the characteristics of these incidentally detected pheochromocytomas with the medical records of 28 pathologically proven pheochromocytomas, diagnosed based on typical symptoms. RESULTS: Among the 198 patients with adrenal incidentaloma, nineteen patients were diagnosed with pheochromocytoma. Pheochromocytomas showed larger size and higher Hounsfield unit at precontrast computed tomography (CT) than did non-pheochromocytomas. All pheochromocytomas were larger than 2.0 cm, and the Hounsfield units were 19 or higher in precontrast CT. When both criteria of size > 2.0 cm and Hounsfield unit > 19 were met, the sensitivity and specificity for the diagnosis of pheochromocytoma were 100% and 79.3%, respectively. Compared with patients with pheochromocytoma, diagnosed based on typical symptoms, patients with incidentally detected pheochromocytoma were older, presented less often with hypertension, and showed lower levels of 24-hour urine metanephrine. CONCLUSION: Adrenal incidentaloma with < 2.0 cm in size or < or = 19 Hounsfield units in precontrast CT imaging was less likely to be a pheochromocytoma. Patients with incidentally discovered pheochromocytoma showed lower catecholamine metabolites, compared with those patients with symptomatic pheochromocytoma.
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Humanos , Neoplasias das Glândulas Suprarrenais , Adenoma Adrenocortical , Hipertensão , Prontuários Médicos , Feocromocitoma , Estudos Retrospectivos , Sensibilidade e EspecificidadeRESUMO
BACKGROUND: Langerhans cell histiocytosis (LCH) is a rare disease that involves a clonal proliferation of Langerhans cells. LCH has a predilection for hypothalamo-pituitary axis (HPA) dysfunction, and this leads to diabetes insipidus (DI) and/or anterior pituitary dysfunction. Here, we describe the endocrine dysfunction and clinical characteristics of adult patients with LCH and we analyzed the differences between an adult-onset type and a childhood-onset type. METHODS: The data was obtained from a retrospective chart review of the patients with LCH that involved the HPA and who attended Seoul National University Hospital. The patients were classified into the adult-onset type (age at the time of diagnosis > or = 16) and the childhood-onset type (age at the time of diagnosis < or = 15). RESULTS: Ten patients (9 males and 1 female) were diagnosed with LCH involving the HPA. Five patients were classified as an adultonset type and the other five patients were classified as a childhood-onset type. The median follow-up duration was 6 (3-12) years for the adult-onset type and 16 (15-22) years for the childhood-onset type. All the patients presented with DI as the initial manifestation of HPA involvement. Four adult-onset patients and three childhood-onset patients had a multi-system disease. Panhypopituitarism developed in three adult-onset patients and in one childhood-onset patient. The pituitary lesion of the three adult-onset patients had spread to the brain during the follow-up duration. In contrast, the pituitary lesion of the other two adult-onset patients without panhypopituitarism and all the childhood-onset patients had not changed. CONCLUSION: DI was the initial presentation symptom of HPA involvement. Anterior pituitary hormone deficiency followed in some patients. Compared with the childhood-onset patients, the adult-onset patients were more likely to have panhypopituitarism and a poor prognosis.
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Adulto , Humanos , Masculino , Encéfalo , Diabetes Insípido , Seguimentos , Histiocitose de Células de Langerhans , Hipopituitarismo , Células de Langerhans , Prognóstico , Doenças Raras , Estudos Retrospectivos , Vértebra Cervical ÁxisRESUMO
BACKGROUND: The objective of this study is to demonstrate the relationship between the volume of a parathyroid adenoma and the preoperative biochemical parameters in patients undergoing surgery for primary hyperparathyroidism. METHODS: The medical records of 68 patients who underwent a parathyroidectomy for a single parathyroid adenoma were retrospectively reviewed. The volume of the adenoma was estimated using its measured size and a mathematical formula. The correlation between the volume of the parathyroid adenoma and the preoperative laboratory data was assessed. RESULTS: There were no correlations between the estimated volume of the adenoma and the serum calcium, alkaline phosphatase and parathyroid hormone levels. However, the volume of the adenoma was associated with the preoperative level of serum phosphorus. After excluding 5 adenomas with cystic degeneration, a positive correlation was noted between the adenoma volume and the preoperative levels of alkaline phosphatase and parathyroid hormone. CONCLUSION: The preoperative serum levels of calcium, alkaline phosphatase and parathyroid hormone are of limited use to predict the volume of the parathyroid adenoma in patients with a single parathyroid adenoma. We suggest that the absence of a correlation between the volume of the adenoma and the biochemical parameters can be attributed to the cystic degeneration of the adenomas.
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Humanos , Adenoma , Fosfatase Alcalina , Cálcio , Hiperparatireoidismo , Hiperparatireoidismo Primário , Prontuários Médicos , Hormônio Paratireóideo , Neoplasias das Paratireoides , Paratireoidectomia , Fósforo , Estudos RetrospectivosRESUMO
Von Hippel-Lindau (VHL) disease is an autosomal dominant disorder that results from a germline mutation of the VHL gene. The affected individuals might develop several benign or malignant tumors such as central nervous system or retinal haemangioblastomas, endolymphatic sac tumors, renal cell carcinomas, pheochromocytomas or pancreatic cysts and neuroendocrine tumors. We report here on a case of a 21 year old female with von Hippel-Lindau disease and she presented with only pancreatic neuroendocrine tumor and no evidence of haemangioblastomas or other visceral complications. Further, direct sequencing of the VHL gene reveals a novel germline frameshift mutation of codon 198 from the deletion of nucleotide 592 (cytosine), leading to truncation of the VHL protein.