Primary aldosteronism is a disease that the stimulus for the excessive aldosterone production resides within the adrenal gland. It was first described by conn in 1955. And many cases were reported by physicians at present in the world. But it is relatively rare in Korea, probably due to lack of attension and medical facilities. Only about 13 cases have been reported at present. The clinical, biochemical features in 1 case of primary aldosteranism caused by adrenal hyperplasia that was diagnosed at Yeungnam University Hospital was observed and the following result were obtained. 1. Clinical feature: The present case was 27-year-old woman who was admitted due to general weakness and easy fatigability. The above mensioned chief complaints occurred 8 months prior to admission when she delivered of second baby by cesarian section. Symptoms such as above chief complaints, intermittent muscle paralysis and cramping were noticed. Trousseau's sign was also present. The average blood pressure ranged from 170/90 to 200/120. 2. Biochemical abnormalities: Severe hypokalemia lower than 2.5 mEq/L was presented and 24 hours urine potassium showed markedly increased urinary loss.(228 mEq/day). Plasma renin activity was decreased under normal range with furosemide administration.(Basal renin; 0.01ng/ml/hr, stimulated renin 0.12ng/ml/hr). Saline suppression test revealed markedly elevated levels of aldosterone higher than normal range. (Basal aldosterone; 320.68pg/ml stimulated aldosterone; 451.86pg/ml). And posture test showed decreased plasma renin activity and increased plasma aldosterone level. - PRA(ng/ml/hr)=Bsal: 0.05(0.15~2.33), Stimulated: 0.22(1.31~3.95) - Aldosterone(pg/ml)=Bsal: 242.77(10~160), Stimulated: 432.09(40~310) 3. Adrenal CT scan revealed no abnormal findings. 4. Treatment and course: Spironolactone was given at OPD with regular follow-up. Her blood pressure ranged from 150/90 to 160/100 and symptoms were improved. The effect of treatment was satisfactory and further follow up would be performed.
Journal of The Korean Society of Inherited Metabolic disease
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v.6
no.1
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pp.15-23
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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.
Ko, Jae Sung;Yang, Hye Ran;Kim, Jong Won;Seo, Jeong Kee
Clinical and Experimental Pediatrics
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v.48
no.8
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pp.877-880
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2005
Purpose : Glycogen storage disease type Ia(GSD Ia) is an autosomal recessive disorder caused by the deficiency of glucose-6-phosphatase(G6Pase). The aim of the study was to investigate the spectrum of G6Pase gene mutations and relationship between genotype and clinical findings in Korean patients with GSD Ia. Methods : Genomic DNA was extracted from peripheral leukocytes of 20 patients with GSD Ia. The five exons of G6Pase gene were amplified and PCR products were directly sequenced. The frequency of short stature, hypoglycemia, hypercholesterolemia, hyperuricemia, hypercalciuria, nephrocalcinosis and hepatic adenoma was compared between 727G>T homozygotes and 727G>T compound heterozygotes. Results : A total of 5 different mutations were identified. The most common mutation was the 727G>T with an allele frequency of 80%. All patients were either homozygous(12/20) or heterozygous(8/20) for the 727G>T mutation. G122D was found in 3 patients, P178A in 1, G222R in 2, and S339R in 2. There was no difference in the frequency of short stature, hypoglycemia, hypercholesterolemia, hyperuricemia, nephrocalcinosis, and hepatic adenoma between 727G>T homozygotes and heterozygotes. Conclusion : Diagnosis of GSD Ia can be based on clinical and biochemical abnormalities combined with mutation analysis instead of enzymatic diagnosis that requires liver biopsy. Homozygosity for the 727G>T does not seem to alter the disease phenotype as compared with the heterozygous state.
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.
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.
Amir Raoofi;Omid Gholami;Hossein Mokhtari;Fatemeh Bagheri;Auob Rustamzadeh;Davood Nasiry;Alireza Ghaemi
Clinical and Experimental Reproductive Medicine
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v.51
no.1
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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.
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.
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.
Yeonhoo Jung;Moonseok Jang;Rahye Kang;Wanghui Lee;Seongjun Park
Journal of Veterinary Clinics
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v.40
no.5
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pp.382-386
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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.
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.
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