• 대한의생명과학회지
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• 제12권4호
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• pp.413-418
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• 2006

Charcot-Marie-Tooth disease (CMT) is blown as one of the inherited disorder of peripheral nervous system. Recently, it was found that point mutations in the neurofilament light subunit (NF-L) gene cause CMT. Neurofilaments (NFs) are heteropolymers consist of NF-L, NF-M and NF-H. To assess the relationship between CMT and NF-L mutation in cellular level, we performed phenotypic analysis of the mutant NF-L (E397K) using cultured cell lines. Vimentin-deficient human adrenal carcinoma SW13 (Vim-) cells have a potential to form the intermediate filaments when the cells are expressing both NF-L and NF-M. Our results show that co-expression of wild type NF-L with NF-M showed intermediate filament formation in SW13 (Vim-) cells, while E397K with NF-M did not. This result means that E397K mutant lost its ability to form the intermediate filament in vivo, and further suggests that the E397K mutation is closely related to CMT.

• 대한한방내과학회지
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• 제20권1호
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• pp.280-285
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• 1999

We report 1 patient with Primary aldosteronism caused by malfunction of adrenal gland. which occupies 1-2% of the whole Hypertensive disease. The patient was 35 year-old female with the history of hypertension. She was hospitalized at Department of Circulatory Internal Medicine. College of Oriental Medicine, Kyung Hee University, Seoul, because of low limb weakness, chest discomport, palpitation and dry mouth. The value of serum potassium level was o.6 and at last adenoma was diagnosed on the basis of abdomen CT scan. The Primary aldosteronism manifests myasthenia, headache, dry mouth, palpitation. In laboratory findings, it especially shows specific U -wave in EKG due to low serum potassium level resulted from excessive flow-out through urine. It could be regarded as ‘Flaccid paralysis of Limbs(?症)‘, the Oriental medical term which indicates a condition of general weakness. We report on this case with a review of literature.

• Advances in pediatric surgery
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• 제6권1호
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• pp.56-59
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• 2000

The WDHA syndrome characterized by watery diarrhea, hypokalemia, and achlorhydria (WDHA syndrome) is rare, and with neurogenic tumors. A 20-month-old girl presenting with symptoms of WDHA syndrome was transferred to our hospital. She had a ganglioneuroblastoma of the adrenal gland. The serum level of VIP was elevated. After complete excision of the tumor, all symptoms related to the WDHA syndrome were relieved and serum VIP level dropped to normal. The postoperative course was uneventful. The patient was treated with postoperative chemotherapy and radiation therapy. There was no evidence of disease 33 months after operation.

• 한국임상수의학회지
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• 제25권6호
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• pp.476-481
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• 2008

A retrospective study of 17 dogs with hyperadrenocorticism (HAC) was performed to evaluate the clinical and clinicopathological outcomes in dogs with pituitary-dependent HAC or adrenal gland-dependent HAC. Sixteen dogs were monitored at day 10, 30 and 90 then every 3 month after first presentation. In each examination, physical examination and ACTH stimulation test and client questionnaire were performed. In 17 cases, eight dogs were successfully treated with mitotane therapy (median dose 16.7 mg/kg; range 5.3 to 50 mg/kg, SID); another one dog showed favorable response, but the clients declined to further treatment before the full control of the disease had been achieved; four dogs showed poor response to treatment. One dog was euthanized due to septicemia. These results showed canine HAC can be medically managed successfully without side effects at the doses used in this study.

• Neonatal Medicine
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• 제28권2호
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• pp.83-88
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• 2021

Treatment guidelines for postnatal cytomegalovirus (pCMV) infection in preterm have not been established yet. Neutropenia, thrombocytopenia, hepatitis, colitis, and sepsis-like disease are among the clinical manifestations, which range from moderate to serious. We present a case of autopsy diagnosed as pCMV infection in a premature infant delivered at gestational age of 24 weeks and 5 days. On the 7th and 14th days of birth, urinary CMV polymerase chain reaction samples were negative, ruling out congenital CMV infection. However, autopsy examination revealed that the patient had disseminated pCMV infection. CMV inclusion bodies were found in the majority of tissues, including the lung, liver, pancreas, breast, kidney, and adrenal gland, but not the placenta. The thymus exhibited significant cortical atrophy and T-cell immunodeficiency, possibly induced by dexamethasone treatment for bronchopulmonary dysplasia or by pCMV infection itself. If dexamethasone treatment is extended or high doses are considered, it may be beneficial to test the CMV infection status to prevent aggravation of infection. This case demonstrates that, despite the low prevalence, pCMV infection should be considered a differential diagnosis in preterm if other conditions or etiology cannot justify clinical deterioration.

• Asian Pacific Journal of Cancer Prevention
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• 제15권5호
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• pp.2303-2307
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• 2014

Background: Renal cancer is a serious public health problem which may be under reported and registered in our setup, since the Karachi cancer registry documented only 43 cases out of 4,268 incident cancer cases over 3 year duration. Therefore we aimed to determine the clinicopathologic characteristics of adult renal tumors in our setup. Materials and Methods: The study was conducted in histopathology department, Liaquat National Hospital and included total of 68 cases of adult renal tumors over 4 years. Detailed histopathologic characteristics of tumors were analyzed. Results: Mean age of patients was 56.4 (18-84) years. Renal cell carcinoma (RCC) was the most common cell type (78%) cases; followed by transitional/urothelial carcinoma (12.5%), leiomyosarcoma (4.7%), oncocytoma (1.6%), squamous cell carcinoma (1.6%) and high grade pleomorphic undifferentiated sarcoma (1.6%). Among 50 RCC cases; 62% were conventional/clear cell RCC (CCRCC) type followed by papillary RCC(PRCC), 24%; chromophobe RCC(CRCC), 6% and sarcomatoid RCC(SRCC), 8%. Mean tumor size for RCC was 7.2 cm. Most RCCs were intermediate to high grade (60% and 40% respectively). Capsular invasion, renal sinus invasion, adrenal gland involvement and renal vein invasion was seen in 40%, 18%, 2% and 10% of cases respectively. Conclusions: We found that RCC presents at an earlier age in our setup compared to Western populations. Tumor size was significantly larger and most of the tumors were of intermediate to high grade. This reflects late presentation of patients after disease progression which necessitates effective measures to be taken in primary care setup to diagnose this disease at an early stage.

• 대한한방내과학회지
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• 제26권1호
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• pp.281-289
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• 2005

Objective : Pheochromocytoma may arise within the adrenal medulla, or in other locations, where symptheic ganglia or chromaffin tissues are known to exist. Approximately 0.1 % of hypertensive patients have Pheochromocytoma, This study is to report the clinical effects of ShiHo-GuiZhiTang on pateints who have suffered from such symptoms of Pheochromocytoma as sweating, hypertention, Indigestion, anxiety neurosis, nausea, headache, and epigastric discomfort. Method : ShiHo-GuiZhiTang was used for a patient who had suffered from symptoms of Pheochromocytoma which was diagnosed as Banpeubanri-jueng of soyang disease in Sanghan-Ron. Result : In treating the patient with symptoms of Pheochromocytoma with ShiHo-GuiZhiTang, results were good. Conclusion : The results of this study suggest that ShiHo-GuiZhiTang is effective for such symptoms of Pheochromocytoma as sweating, hypertention, Indigestion, anxiety neurosis, nausea, headache, and epigastric discomfort.

• 대한유전성대사질환학회지
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• 제13권1호
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• pp.57-61
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• 2013

Glycerol kinase 결핍증(GKD)은 X-linked 열성유전되는 질환으로 생화학적으로 혈중 glycerol이 상승되고 소변으로 glycerol이 분비되는 질환이다. GK 유전자는 X chromosome 단완의 21.3 region에 위치하며, AHC gene과 DMD gene 사이에 직렬로 위치하고 있다. 만약 이부위에 긴 부분의 결손이 발생하면 이들 질환이 동시에 발생하게 되며, 이를 contiguous gene deletion syndrome이라고 부른다. 국내에서는 이 세 질환이 동시에 나타나는 contiguous gene deletion syndrome은 보고된 바 있으나 GK 결핍증만 단독으로 있었던 경우는 보고가 없었다. 저자들은 장염후의 고이화상태에서 저혈당과 의식의 혼탁으로 발현된 단독 GK 결손증을 보고하는 바이다.

• Clinical and Experimental Reproductive Medicine
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• 제31권3호
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• pp.149-154
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• 2004

Objective: To assess the association with autoimmune endocrine diseases and detection rate of autoimmune antibodies and its clinical significance in patients with premature ovarian failure. Methods: Twenty eight patients with primary or secondary amenorrhea manifesting hormonal and clinical features of premature ovarian failure (primary POF: 7, secondary POF: 21) were investigated. We tested them TFT, 75 g OGTT, ACTH and S-cortisol for thyroiditis, IDDM, Addison's disease, and antithyoglobulin antibody, antimicrosomal antibody, antinuclear antibody, rheumatic factor, anti-smooth muscle antibody, anti-acetylcholine receptor antibody for non-organ specific autoimmune disorders. Results: Only one patient was diagnosed as IDDM and no patients had abnormal TFT or adrenal function test. More than one kind of autoantibody was detected in 11 patients of all (39.2%): 5 patients (71.4%) of primary POF group and 6 patients (21.4%) of secondary POF group. Eleven patients (39.3%) had antithyroglobulin antibody, 4 (14.3%) had antimicrosomal antibody, 2 (7.1%) had antinuclear antibody, 2 (7.1%) had rheumatic factor, 1 (3.6%) had anti-smooth muscle antibody, 1 (3.6%) had anti-acetylcholine receptor antibody. Conclusions: Premature ovarian failure may occur as a component of an autoimmune polyglandular syndrome, so patients should be measured with free thyroxine, thyroid-stimulating hormone, fasting glucose and electrolytes. Measurement of thyroid autoantibodies in POF patients may be important in identifying patients at risk of developing overt hypothyoidism, but other autoantibodies may not be suitable for screening test.

• Clinical Psychopharmacology and Neuroscience
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• 제16권4호
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• pp.422-433
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• 2018

Objective: Neuropsychiatric manifestations like depression and cognitive dysfunction commonly occur in inflammatory bowel disease (IBD). In the context of the brain-gut axis model, colitis can lead to alteration of brain function in a bottom-up manner. Here, the changes in the response of the hypothalamic-pituitary-adrenal axis and inflammation-related markers in the brain in colitis were studied. Methods: Dextran sodium sulfate (DSS) was used to generate a mouse model of colitis. Mice were treated with DSS for 3 or 7 days and sacrificed. We analyzed the gene expression of brain-derived neurotrophic factor (BDNF), cyclooxygenase 2 (COX-2), and glial fibrillary acidic protein (GFAP), and the expression of GFAP, in the hippocampus, hypothalamus, and amygdala. Additionally, the levels of C-reactive protein (CRP) and serum cortisol/corticosterone were measured. Results: Alteration of inflammatory-related markers varied depending on the brain region and exposure time. In the hippocampus, COX-2 mRNA, GFAP mRNA, and GFAP expression were upregulated during exposure to DSS. However, in the hypothalamus, COX-2 mRNA was upregulated only 3 days after treatment. In the amygdala, BDNF and COX-2 mRNAs were downregulated. CRP and corticosterone expression increased with DSS treatment at day 7. Conclusion: IBD could lead to neuroinflammation in a bottom-up manner, and this effect varied according to brain region. Stress-related hormones and serum inflammatory markers, such as CRP, were upregulated from the third day of DSS treatment. Therefore, early and active intervention is required to prevent psychological and behavioral changes caused by IBD, and region-specific studies can help understand the precise mechanisms by which IBD affects the brain.