Extremely Severe Dysphagia Secondary to Tracheostomy: A Case Report / 대한연하장애학회지

We report an extremely severe case of dysphagia in an elderly patient. Tracheostomy alone was found to be the cause of severe upper esophageal opening dysfunction. An 84-year-old woman was admitted with dyspnea. During hospitalization, she had respiratory failure and underwent a tracheostomy. On day 41 in the hospital, she complained of dysphagia and was a swallowing evaluation was done at the rehabilitation department. We ruled out other etiologies of upper esophageal dysfunction through a brain magnetic resonance imaging (MRI) and endoscopic evaluation. Through follow-up tests, it was found retrospectively that extreme dysphagia could have occurred through the following mechanism: the airway was not protected at the time of the tracheostomy because the movement of the epiglottis did not appear to be normal. This was due to the reduction in laryngeal function affecting the upper esophageal opening after the tracheostomy, and at the same time, the power to push the bolus was weak. After 6 months, at the third test, she had improved enough to ingest a soft diet and fluid with thickeners, so she was able to start an oral diet without decannulation. It is thus important to recognize that tracheostomy alone can cause extremely severe aspiration. If these findings are observed in patients undergoing tracheostomy, it is necessary to check the movements of the epiglottis properly and evaluate whether the condition can be improved by rehabilitation treatment.

E-Health Interventions for Older Adults With Frailty: A Systematic Review

Objective@#To systematically review the efficacy of e-Health interventions on physical performance, activity and quality of life in older adults with sarcopenia or frailty. @*Methods@#A systematic review was conducted by searching the MEDLINE, Embase, Cochrane Library, CINHAL, Web of Science, and the Physiotherapy Evidence Database for experimental studies published in English from 1990 to 2021. E-Health studies investigating physical activity, physical performance, quality of life, and activity of daily living assessment in adults aged ≥65 years with sarcopenia or frailty were selected. @*Results@#Among the 3,164 identified articles screened, a total of 4 studies complied with the inclusion criteria. The studies were heterogeneous by participant characteristics, type of e-Health intervention, and outcome measurement. Age criteria for participant selection and sex distribution were different between studies. Each study used different criteria for frailty, and no study used sarcopenia as a selection criteria. E-Health interventions were various across studies. Two studies used frailty status as an outcome measure and showed conflicting results. Muscle strength was assessed in 2 studies, and meta-analysis showed statistically significant improvement after intervention (standardized mean difference, 0.51; 95% confidence interval, 0.07–0.94; p=0.80, I2=0%). @*Conclusion@#This systematic review found insufficient evidence to support the efficacy of e-Health interventions. Nevertheless, the studies included in this review showed positive effects of e-Health interventions on improving muscle strength, physical activity, and quality of life in older adults with frailty.

Associations of GNAS Mutations with Surgical Outcomes in Patients with Growth Hormone-Secreting Pituitary Adenoma

Background@#The guanine nucleotide-binding protein, alpha stimulating (GNAS) gene has been associated with growth hormone (GH)-secreting pituitary adenoma. We investigated the prevalence of GNAS mutations in Korean patients with acromegaly and assessed whether mutation status correlated with biochemical or clinical characteristics. @*Methods@#We studied 126 patients with acromegaly who underwent surgery between 2005 and 2014 at Severance Hospital. We performed GNAS gene analysis and evaluated age, sex, hormone levels, postoperative biochemical remission, and immunohistochemical staining results of the tumor. @*Results@#GNAS mutations were present in 75 patients (59.5%). Patients with and without GNAS mutations showed similar age distribution and Knosp classification. The proportion of female patients was 76.5% and 48.0% in the GNAS-negative and GNAS-mutation groups, respectively (P=0.006). In immunohistochemical staining, the GNAS-mutation group showed higher GH expression in pituitary tumor tissues than the mutation-negative group (98.7% vs. 92.2%, P=0.015). Patients with GNAS mutations had higher preoperative insulin-like growth factor-1 levels (791.3 ng/mL vs. 697.0 ng/mL, P=0.045) and lower immediate postoperative basal (0.9 ng/mL vs. 1.0 ng/mL, P=0.191) and nadir GH levels (0.3 ng/mL vs. 0.6 ng/mL, P=0.012) in oral glucose tolerance tests. Finally, the GNAS-mutation group showed significantly higher surgical remission rates than the mutation-negative group, both at 1 week and 6 months after surgical resection (70.7% vs. 54.9%, P=0.011; 85.3% vs. 82.4%, P=0.007, respectively). @*Conclusion@#GNAS mutations in GH-secreting pituitary tumors are associated with higher preoperative insulin-like growth factor-1 levels and surgical remission rates and lower immediate postoperative nadir GH levels. Thus, GNAS mutation status can predict surgical responsiveness in patients with acromegaly.

Associations of GNAS Mutations with Surgical Outcomes in Patients with Growth Hormone-Secreting Pituitary Adenoma

Background@#The guanine nucleotide-binding protein, alpha stimulating (GNAS) gene has been associated with growth hormone (GH)-secreting pituitary adenoma. We investigated the prevalence of GNAS mutations in Korean patients with acromegaly and assessed whether mutation status correlated with biochemical or clinical characteristics. @*Methods@#We studied 126 patients with acromegaly who underwent surgery between 2005 and 2014 at Severance Hospital. We performed GNAS gene analysis and evaluated age, sex, hormone levels, postoperative biochemical remission, and immunohistochemical staining results of the tumor. @*Results@#GNAS mutations were present in 75 patients (59.5%). Patients with and without GNAS mutations showed similar age distribution and Knosp classification. The proportion of female patients was 76.5% and 48.0% in the GNAS-negative and GNAS-mutation groups, respectively (P=0.006). In immunohistochemical staining, the GNAS-mutation group showed higher GH expression in pituitary tumor tissues than the mutation-negative group (98.7% vs. 92.2%, P=0.015). Patients with GNAS mutations had higher preoperative insulin-like growth factor-1 levels (791.3 ng/mL vs. 697.0 ng/mL, P=0.045) and lower immediate postoperative basal (0.9 ng/mL vs. 1.0 ng/mL, P=0.191) and nadir GH levels (0.3 ng/mL vs. 0.6 ng/mL, P=0.012) in oral glucose tolerance tests. Finally, the GNAS-mutation group showed significantly higher surgical remission rates than the mutation-negative group, both at 1 week and 6 months after surgical resection (70.7% vs. 54.9%, P=0.011; 85.3% vs. 82.4%, P=0.007, respectively). @*Conclusion@#GNAS mutations in GH-secreting pituitary tumors are associated with higher preoperative insulin-like growth factor-1 levels and surgical remission rates and lower immediate postoperative nadir GH levels. Thus, GNAS mutation status can predict surgical responsiveness in patients with acromegaly.

Lactate Dehydrogenase A as a Potential New Biomarker for Thyroid Cancer

Background@#Several cancers show increased levels of lactate dehydrogenase A (LDHA), which are associated with cancer progression. However, it remains unclear whether LDHA levels are associated with papillary thyroid cancer (PTC) aggressiveness or with the presence of the PTC prognostic marker, the BRAFV600E mutation. This study aimed to evaluate the potential of LDHA as a PTC prognostic marker. @*Methods@#LDHA expression was examined in 83 PTC tissue specimens by immunohistochemistry. Human thyroid cell lines were genetically manipulated to overexpress BRAFV600E or were treated with a BRAF-specific short hairpin RNA (shBRAF), whose effects on LDHA expression were evaluated by Western blotting. Data from 465 PTC patients were obtained from The Cancer Genome Atlas (TCGA) database and analyzed to validate the in vitro results. @*Results@#LDHA was aberrantly overexpressed in PTC. Intense immunostaining for LDHA was observed in PTC specimens carrying mutated BRAF, whereas the intensity was less in wild-type BRAF samples. Overexpression of BRAFV600E resulted in LDHA upregulation, whereas treatment with shBRAF downregulated LDHA in human thyroid cell lines. Furthermore, LDHA mRNA expression was significantly elevated and associated with BRAFV600E expression in thyroid cancer tissues from TCGA database. Additionally, LDHA overexpression was found to be correlated with aggressive clinical features of PTC, such as lymph node metastases and advanced tumor stages. @*Conclusion@#LDHA overexpression is associated with the BRAFV600E mutation and an aggressive PTC behavior. Therefore, LDHA may serve as a biomarker and therapeutic target in PTC.

Circadian Rhythm Disruption and Metabolic Syndrome / 임상당뇨병

Metabolic syndrome is a complex disorder and an emerging clinical challenge. It is induced by the interplay of genetic and environmental factors. Recently, evidence has emerged to suggest that circadian rhythm disruption is a new risk factor to explain the increased incidence of metabolic syndrome. This review summarizes circadian rhythm biology and the evidence linking circadian rhythm disruptions to metabolic syndrome, as related to lipid metabolism, glucose homeostasis, and cardiovascular function. Further understanding of circadian rhythm will aid the development of novel therapeutic strategies for metabolic syndrome.

Low Serum Vitamin D Is Associated with Anti-Thyroid Peroxidase Antibody in Autoimmune Thyroiditis

PURPOSE: The association between autoimmune thyroid diseases (AITDs) and vitamin D deficiency is controversial. We aimed to evaluate the relationship between serum 25-hydroxy-vitamin D3 [25(OH)D3] and anti-thyroid antibody levels. MATERIALS AND METHODS: 25(OH)D3, anti-thyroid antibodies, and thyroid function measured in 304 patients who visited the endocrinology clinic were analyzed. The patients were subgrouped into the AITDs or non-AITDs category according to the presence or absence of anti-thyroid antibodies. The relationship between anti-thyroid peroxidase antibody (TPOAb) and 25(OH)D3 was evaluated. RESULTS: The patients with elevated anti-thyroid antibodies had lower levels of serum 25(OH)D3 than those who did not (12.6+/-5.5 ng/mL vs. 14.5+/-7.3 ng/mL, respectively, p<0.001). Importantly, after adjusting for age, sex, and body mass index, a negative correlation (r=-0.252, p<0.001) was recognized between 25(OH)D3 and TPOAb levels in the AITDs group, but this correlation did not exist in the non-AITDs group (r=0.117, p=0.127). 25(OH)D3 level was confirmed as an independent factor after adjusting for co-factors that may affect the presence of TPOAb in the AITDs group. CONCLUSION: 25(OH)D3 level is an independent factor affecting the presence of TPOAb in AITDs. The causal effect of 25(OH)D3 deficiency to AITDs is to be elucidated.

A 47,X,+t(X;X)(p22.3;p22.3)del(X)(p11.23q11.2),Y Klinefelter Variant with Morbid Obesity

Klinefelter syndrome is the most common type of genetic cause of hypogonadism. This syndrome is characterized by the presence of 1 or more extra X chromosomes. Phenotype manifestations of this syndrome are small testes, fibrosis of the seminiferous tubules, inability to produce sperm, gynecomastia, tall stature, decrease of serum testosterone and increases of luteinizing hormone and follicle stimulating hormone. Most patients with Klinefelter syndrome are tall, with slender body compositions, and reports of obesity are rare. We report the case of a 35-yr-old man with hypogonadism and morbid obesity and diabetes mellitus. He had gynecomastia, small testes and penis, very sparse body hair and his body mass index was 44.85. He did not report experiencing broken voice and was able to have erections. We conducted a chromosome study. His genotype was 47,X,+t(X;X)(p22.3;p22.3)del(X)(p11.23q11.2). In this case, the patient was diagnosed as Klinefelter syndrome. He showed rare phenotypes like morbid obesity and average height and the phenotype may be caused by the karyotype and the excess number of X chromosome. Further studies of the relationship between chromosomes and phenotype are warranted.

A Case of Systemic Lupus Erythematosus Manifested as Anemia and Thrombocytopenia during Antithyroid Drug Treatment / 대한내과학회지

We encountered a patient with systemic lupus erythematosus that manifested as anemia and thrombocytopenia during antithyroid drug treatment. A 39-year-old woman with Graves' disease was admitted with anemia and thrombocytopenia. She had been treated with propylthiouracil, but had switched to methimazole one month prior to admission. We evaluated many possible causes and found that the patient had renal disorder and hematologic disorder, and was positive for antiphospholipid and antinuclear antibodies. She was diagnosed with systemic lupus erythematosus associated with Graves' disease and was successfully treated with corticosteroids.

A Case of Systemic Lupus Erythematosus Manifested as Anemia and Thrombocytopenia during Antithyroid Drug Treatment / 대한내과학회지

We encountered a patient with systemic lupus erythematosus that manifested as anemia and thrombocytopenia during antithyroid drug treatment. A 39-year-old woman with Graves' disease was admitted with anemia and thrombocytopenia. She had been treated with propylthiouracil, but had switched to methimazole one month prior to admission. We evaluated many possible causes and found that the patient had renal disorder and hematologic disorder, and was positive for antiphospholipid and antinuclear antibodies. She was diagnosed with systemic lupus erythematosus associated with Graves' disease and was successfully treated with corticosteroids.

1-34 PTH Could Reverse Impaired Bone Mineralization Induced By the Overdose of Bisphosphonate

Bisphosphonates are the mainstay of osteoporosis treatment. Despite the fact that bisphosphonates have a relatively good safety record and are tolerated well by the majority of patients, serious adverse events have been associated with their use. A 41-year-old man had been diagnosed with osteoporosis and had taken etidronate 200 mg/day daily for 2 years due to the judgmental error. He was referred for the management of refractory bone pain and generalized muscle ache. Serum calcium, phosphate, 25-hydroxy-vitamin D (25(OH)D), and immunoreactive parathyroid hormone (iPTH) were within normal range. Plain X-ray showed multiple fractures. Whole body bone scan confirmed multiple sites of increased bone uptakes. Tetracycline-labeled bone biopsy showed typical findings of osteomalacia. He was diagnosed with iatrogenic, etidronate-induced osteomalacia. The patient received daily parathyroid hormone (PTH) injection for 18 months. PTH effectively reverses impaired bone mineralization caused by etidronate misuse. Currently, he is doing well without bone pain. Bone mineral density significantly increased, and the increased bone uptake was almost normalized after 18 months. This case seems to suggest that human PTH (1-34) therapy, possibly in association with calcium and vitamin D, is associated with important clinical improvements in patients with impaired bone mineralization due to the side effect of bisphosphonate.

Seven Year-follow-up of a Brown Tumor in the Maxilla Associated with Secondary Hyperparathyroidism in End-stage Renal Failure / 대한골다공증학회지

Hyperparathyroidism is a frequent complication of chronic kidney disease (CKD) as a result of prolonged hyperphosphatemia and hypocalcemia. Brown tumor is a rare bony complication of hyperparathyroidism as a result of increased osteoclastic activity and fibroblastic proliferation. Frequent sites of brown tumor are known as ribs, clavicles, mandible, and pelvic bone, but maxilla is very rare site. Twenty seven-year-old woman with stage V CKD on hemodialysis presented with maxillary mass which had gradually increased in size for 3 years. It was painless, but tooth derangement occurred. Initial laboratory findings revealed hypercalcemia (11.0 mg/dL), hyperphosphatemia (6.9 mg/dL), high creatinine (7.5 mg/dL), and high serum PTH (1729.9 pg/mL). The bone mineral density was significantly low (lumbar spine Z-score:

A Case of Gabapentin-induced Myoclonus in a Type 2 Diabetic Patient with End-stage Renal Disease / 임상당뇨병

Development of myoclonus can manifest as a side effect of antiepileptic drugs in subjects with preexisting epilepsy, post-traumatic brain injury, encephalopathy, or focal and multifocal brain lesions. A 69-year-old male showed new onset severe myoclonus and confusion two days after taking 1200 mg gabapentin. The patient had end-stage renal disease secondary to type 2 diabetes and was receiving hemodialysis twice a week. After increasing hemodialysis to three times a week and discontinuing gabapentin, myoclonus spontaneously resolved. Here we report the first case of myoclonus in a Korean subject with diabetic renal failure. We recommend caution in the administration of gabapentin for diabetic subjects with renal disease.