• Journal of Yeungnam Medical Science
• /
• 제3권1호
• /
• pp.313-318
• /
• 1986

본 환자는 전신쇠약감 피로감, 고혈압과 혈청 potassium치가 저하되어 있고 혈청 Renin활성도가 감소되어 있으면서 Aldosterone억제 시험에도 억제가 되지 않았음을 볼 때 원발성 Aldosterone증을 의심할 수 있었다. 또 자세변화 시험에서 혈청 Renin활성도가 떨어져 있었고 자세변화에 따라 혈청 Aldosterone이 증가했으며 컴퓨터 단층촬영에서 별다른 병변이 뚜렷이 보이지 않음을 볼때 부신증식성 Aldosterone증으로 의심된다. 따라서 본 환자에게 spironolactone을 투여했고 이후 외래를 통해 추적검사 중이며 혈압 조절이 양호할 뿐 아니라, 불편을 느끼던 증상들도 호전이 되었음을 안 수 있었다. 끝으로 원발성 Aldosterone증에 대한 관심을 더 기울인다면 더 많은 증례가 발견될 것으로 사료되고, 본 저자들은 보다 많은 증례를 찾아 추후 증례보고및 추적검사할 예정이다.

• 대한유전성대사질환학회지
• /
• 제6권1호
• /
• pp.15-23
• /
• 2006

Purpose: Glycogen storage disease type III (GSD-III), is a rare autosomal recessive disorder of glycogen metabolism. The affected enzyme is amylo-1,6-glucosidase, 4-alpha-glucanotransferase (AGL, glycogen debranching enzyme), which is responsible for the debranching of the glycogen molecule during catabolism. The disease has been demonstrated to show clinical and biochemical heterogeneity, reflecting the genotype-phenotype heterogeneity among different patients. In this study, we analyzed mutations of the AGL gene in three unrelated Korean GSD-III patients and discussed their clinical and laboratory implications. Methods: We studied three GSD-III patients and the clinical features were characterized. Sequence analysis of 35exons and part exon-intron boundaries of the AGLgene in patients were carried out by direct DNA sequencing method using genomic DNA isolated from patients' peripheral leukocytes. Results: The clinical features included hepatomegaly (in all patients), seizures (in patient 2), growth failure (in patients 1), hyperlipidemia (in patients 1 and 3), raised transaminases and creatinine kinase concentrations (in all patients) and mild EKG abnormalities (in patients 2). Liver transplantation was performed in patient 2due to progressive hepatic fibrosis. Administration of raw-corn-starch could maintain normoglycemia and improve the condition. DNA sequence analysis revealed mutations in 5 out of 6 alleles. Patient 1 was a compound heterozygote of c.1282 G>A (p.R428K) and c.1306delA (p.S603PfsX6), patient 2 with c.1510_1511insT (p.Y504LfsX10), and patient 3 with c.3416 T>C (p.L1139P) and c.l735+1 G>T (Y538_R578delfsX4) mutations. Except R428K mutation, 4 other mutations identified in3 patients were novel. Conclusion: GSD-III patients have variable phenotypic characteristics resembling GSD-Ia. The molecular defects in the AGL gene of Korean GSD-III patients were genetically heterogeneous.

• Clinical and Experimental Pediatrics
• /
• 제48권8호
• /
• pp.877-880
• /
• 2005

목 적 : 한국인 당원병 제 Ia형 환자에서 G6Pase 유전자 돌연변이를 찾아내고, 유전형과 임상양상과의 연관관계를 밝히는 것이다. 방 법 : 서울대학교병원 소아과에서 Ia형 당원병으로 진단 받은 환자 20명을 대상으로 G6Pase 유전자에 대하여 직접 염기서열 분석하였다. 유전형과 임상 양상의 상관성을 알아보기 위하여 진단시 연령, 저신장, 저혈당, 고콜레스테롤혈증, 고요산혈증, 고칼슘뇨증, 신석회화증, 간선종 발생을 조사하였다. 결 과 : 총 5종류의 돌연변이가 발견되었고, splice site 돌연변이인 727G>T가 40개의 대립 유전자 중 32개에서 발견되어 80%의 빈도를 보였다. 전체 20명 중에서 12명이 727G>T 동형접합자이고, 8명이 727G>T 복합 이형접합자이었다. 8명의 이형접합자에서 G122D 3명, P178A 1명, G222R 2명, 새로운 돌연변이인 S339R 2명 등 다른 돌연변이를 찾을 수 있었다. 727G>T 동형접합자와 복합 이형접합자 두 군 사이에 저신장, 저혈당, 고콜레스테롤혈증, 고요산혈증, 신석회화증, 간선종의 빈도는 차이를 보이지 않았다. 결 론 : 임상 양상, 생화학적 검사와 함께 유전자 돌연변이 분석을 이용하면 간생검을 통한 효소측정을 하지 않고 Ia형 당원병을 진단할 수 있으며, 727G>T 동형접합 돌연변이가 이형접합과 비교할 때 질병 양상에 큰 영향을 미치지 않는다.

• 대한약침학회지
• /
• 제18권3호
• /
• pp.42-48
• /
• 2015

Objectives: The aim of the study is to investigate both the single-dose intramuscular injection toxicity and the approximate lethal dose of water-soluble Carthami-flos and Cervi cornu parvum pharmacopuncture (WCFC) in male and female Sprague-Dawley (SD) rats. Methods: The study was conducted at Biotoxtech Co. according to the Good Laboratory Practice (GLP) regulation and the toxicity test guidelines of the Ministry of Food and Drug Safety (MFDS) after approval of the Institutional Animal Care and Use Committee. Dosages for the control, high dose, middle dose and low dose groups were 0.5 mL/animal of saline and 0.5, 0.25 and 0.125 mL/animal of WCFC, respectively. WCFC was injected into the muscle of the left femoral region by using a disposable syringe (1 mL, 26 gauge). The general symptoms and mortality were observed 30 minutes, 1, 2, 4, and 6 hours after the first injection and then daily for 14 days after the injection. The body weights of the SD rats were measured on the day of the injection (before injection) and on the third, seventh, and fourteenth days after the injection. Serum biochemical and hematologic tests, necropsy examinations, and histopathologic examinations at the injection site were performed after the observation period. Results: No deaths, abnormal clinical symptoms, or significant weight changes were observed in either male or female SD rats in the control or the test (0.125, 0.25, and 0.5 mL/animal) groups during the observation period. No significant differences in hematology and serum biochemistry and no macroscopic abnormalities at necropsy were found. No abnormal reactions at injection sites were noted on the topical tolerance tests. Conclusion: The results of this single-dose toxicity study show that WCFC is safe, its lethal doses in male and female SD rats being estimated to be higher than 0.5 mL/animal.

• 대한한방내과학회지
• /
• 제36권2호
• /
• pp.189-199
• /
• 2015

Objectives: The marker substances of cultivated wild ginseng pharmacopuncture that may not be detected during the process of steaming remain controversial. We developed a combined cultivated wild ginseng pharmacopuncture that contains all the marker substances. The aim of this experiment was to investigate the marker substances and test the toxicity of the combined cultivated wild ginseng pharmacopuncture. Methods: The marker substances were detected using HPLC. Intravenous injection toxicity studies were conducted at Medvill, an authorized institution for non-clinical studies, under the regulations of Good Laboratory Practice. We observed survival rates, abnormal behaviors, weight changes, gross findings in autopsy, blood biochemical properties, and histological abnormalities of organs such as the liver and kidney. Results: HPLC data showed that ginsenosides Rg1, Rb1, and Rg3 were detected at concentrations of 19.29, 47.64, and 3.02 μ g /ml, respectively. Administration of combined cultivated wild ginseng pharmacopuncture resulted in no dead animals or significant toxicological changes. Conclusions: The combined cultivated wild ginseng pharmacopuncture contains all the marker substances and is a relatively safe treatment medium. Further studies should be conducted to confirm the present findings.

• Clinical and Experimental Reproductive Medicine
• /
• 제51권1호
• /
• pp.28-41
• /
• 2024

Objective: Chronic scrotal hyperthermia (SHT) can lead to serious disorders of the male reproductive system, with oxidative stress playing a key role in the onset of these dysfunctions. Thus, we evaluated the impact of caffeine, a potent antioxidant, on cellular and tissue disorders in mice with chronic SHT. Methods: In this experimental study, 56 adult male NMRI mice were allocated into seven equal groups. Apart from the non-treated control group, all were exposed to heat stress. Two groups, termed "preventive" and "curative," were orally administered caffeine. The preventive mice began receiving caffeine immediately prior to heat exposure, while for the curative group, a caffeine regimen was initiated 15 consecutive days following cessation of heat exposure. Each treated group was subdivided based on pairing with a positive control (Pre/ curative [Cur]+PC) or a vehicle (Pre/Cur+vehicle). Upon conclusion of the study, we assessed sperm characteristics, testosterone levels, stereological parameters, apoptosis, antioxidant and oxidant levels, and molecular markers. Results: Sperm parameters, testosterone levels, stereological parameters, biochemical factors (excluding malondialdehyde [MDA]), and c-kit gene expression were significantly elevated in the preventive and curative groups, especially the former, relative to the other groups. Conversely, expression levels of the heat shock protein 72 (HSP72) and nuclear factor kappa beta (NF-κβ) genes, MDA levels, and apoptotic cell density were markedly lower in both caffeine-treated groups relative to the other groups, with more pronounced differences observed in the preventive group. Conclusion: Overall, caffeine attenuated cellular and molecular abnormalities induced by heat stress in the testis, particularly in the mice treated under the preventive condition.

• Asian Pacific Journal of Cancer Prevention
• /
• 제13권11호
• /
• pp.5759-5762
• /
• 2012

The objective of the study was to evaluate the efficacy of a health check-up program among Thai people at the National Cancer Institute in the years 2008-2009. The program included history taking, physical examination, chest X-ray, EKG, and laboratory tests. A total of 28,240 women and 9,665 men were included in the study, with mean ages of 44.5 and 46.9 years, respectively. The study showed that obesity, as assessed by a BMI over 25.0 kg/m2, in men and women was present in 41.4% and 30%, respectively. Biochemical study revealed that anemia was prevalent in 21.6% of men and 20.1% of women. High plasma glucose level (>115 mg/dL), cholesterol level (>200 mg/dL), triglyceride level (>190 mg/dL) in men was 13.8%, 63.8%, 22.6% and 7.7%, 61.1%, 8.9% in women. Hepatitis B virus infection was found 7.5% in men and 4.1% in women. In this study, 177 new cancer cases were detected, of which 35 were breast, 19 were cervical and 26 were colorectal, most of these cancers being detected at early stage. In addition, precancerous states was also found including 718 cases of benign and 99 cases of adenoma in situ. In conclusion, an annual check up may detect abnormalities that have no obvious clinical symptoms of disease. Early detection of asymptomatic neoplasms and precursor lesions should contribute to a prompt provision of treatment and further decline of death from cancer.

• 재활간호학회지
• /
• 제8권2호
• /
• pp.129-138
• /
• 2005

Purpose: Irritable bowel syndrome (IBS) is frequently yet little understood disease. Review was performed to promote understanding on the characteristics, pathophysiology, and risk factors of IBS. Content: IBS is characterized by abdominal discomfort associated with pain and altered bowel function; structural and biochemical abnormalities are absent. Generally IBS is more prevalent in women and people with higher educational and social background, but there are some controversies. IBS is diagnosed by the Rome II or Manning criteria after excluding organic gastrointestinal diseases. The pathophysioloy is explained by abnormal control mechanism of central and enteric nervous system. Mucosal immunity, secretions, and neurotransmitter are also associated with the hypersensitivity and motility change of bowel function. Stress is known as a major triggering factor and contributed to symptoms. Other risk factors are genetic elements, childhood experiences, inflammation, anxiety, depression, diet, and sleep disorders.

• 한국임상수의학회지
• /
• 제40권5호
• /
• pp.382-386
• /
• 2023

A 2-year-old, 12.5 kg, castrated male, mixed-breed dog was presented with a 1-year history of pruritus and progressive alopecia. On physical examination, no remarkable findings were detected including body condition score (5/9). A dermatological examination of the dog revealed generalized erythema, papules or plaques, especially on the face, auricle, dorsum, and shoulder. A fine-needle aspiration of the dorsum and face lesions revealed various numbers of macrophages with foamy cytoplasm and multinucleated giant cells. A bacterial culture test showed the growth of Staphylococcus pseudintermedius. A complete blood cell count was unremarkable and biochemical abnormalities included hyperglobulinemia (4.8 g/dL, reference interval 2.5-4.5 g/dL), mild hypertriglyceridemia (277 mg/dL, reference interval 10-100 mg/dL) and mild hypercholesterolemia (383 mg/dL, reference interval 110-320 mg/dL). Additional diagnostic tests were performed to identify the underlying cause of hyperlipidemia. Canine pancreatic lipase immunoreactivity (<50 ng/mL, reference interval 0-200 ng/mL) and total T4 (1.4 ㎍/dL, reference interval 1.1-5.6 ㎍/dL) were within the reference intervals. For a definitive diagnosis, skin biopsy specimen was collected from the papular lesions on the dorsum by using a 4 mm biopsy punch. A histopathological examination revealed numerous large macrophages with abundant foamy cytoplasm in the dermis. The foamy macrophages were located diffusely between the collagen fibers. Extracellular amorphous lipid deposits were also presented in the dermal tissue. A definitive diagnosis of cutaneous xanthoma was made based on clinical signs and cytological and histopathological results.

• 한국임상수의학회지
• /
• 제25권4호
• /
• pp.295-302
• /
• 2008

Two dogs were referred to Veterinary Medical Center, Chungbuk National University with the clinical signs of vomiting, diarrhea, anorexia, and jaundice. Both dogs were diagnosed as extrahepatic biliary tract obstruction(EHBO) with concurrent pancreatitis based on dilated common bile duct and hyperechoic or mixed-echoic pancreas in abdominal ultrasonographic examination and serum biochemical abnormalities, such as high serum bilirubin, cholesterol, and increased cholestatic enzyme activity. Percutaneous ultrasound-guided cholecytocentesis(PUCC) was performed to examine bile and decompress the gall bladder. After PUCC with medical therapy, both dogs were steadily improved clinical signs of jaundice and anorexia. Also, cholestatic enzyme activity and serum bilirubin concentration decreased. Any complications that have been described in previous studies, such as peritonitis resulting from bile leakage and hemorrhage, were not identified. It is assumed that percutaneous ultrasound guided cholecystocentesis may be an useful diagnostic and therapeutic tool in canine gallbladder disease and can be used easily and safely to gain bile for diagnosis of bacterial cholecytitis.