ABSTRACT
Wolfram-like disorder is one of the WFS1-related disorders that are caused by mutation of the WFS1 genes. WFS1-related disorders are classified as Wolfram syndrome, Wolfram like disorder and nonsyndromic low-frequency sensorineural hearing loss (DFNA6/14/38). Wolfram syndrome is known to DIDMOAD (diabetes insipidus, diabetes mellitus, optic atrophy and deafness), and it is an autosomal-recessive disorder that predisposes a patient to developing type 1 diabetes in association with progressive optic atrophy, and the disease shows various phenotypes. Wolfram like disorder is an autosomal-dominant disorder that predisposes a patient to develop type 2 diabetes in association with optic atrophy and hearing impairment. We experienced a case of Wolfram like disorder with diabetes, optic atrophy and sensorineural hearing loss in a 28-year-old woman who was admitted to our hospital. Our case demonstrated the E737K missense mutation on the WFS1 gene, which has been previously reported in the medical literature. The diagnosis of WFS1-related disorder was confirmed by the clinical features and molecular genetic testing of the WFS1 gene.
Subject(s)
Adult , Female , Humans , Diabetes Mellitus , Diabetes Mellitus, Type 2 , Hearing Loss , Hearing Loss, Sensorineural , Molecular Biology , Mutation, Missense , Optic Atrophy , Phenotype , Tungsten , Wolfram SyndromeABSTRACT
mutation at position 3,243 in the mtDNA-encoded tRNALeu (UUR) gene is associated with the syndrome of maternally inherited diabetes and deafness (MIDD). It is a rare form of diabetes first described in 1992 characterized by maternal relatives with an early middle-aged onset of diabetes, bilateral sensorineural hearing loss, and a normal or low body mass index. A 37-year-old woman was admitted because of general weakness. She had diabetes mellitus (DM) and deafness. Her mother had DM, her second sister had DM and deafness, and her little brother had DM. The molecular genetic analysis identified the A3243G point mutation. In addition, rhabdomyolysis was diagnosed based on the initial laboratory findings and a whole-body bone scan. We report a case of MIDD with rhabdomyolysis due to a low carbohydrate intake and present it with a literature review.
Subject(s)
Adult , Female , Humans , Body Mass Index , Deafness , Diabetes Mellitus , Diabetes Mellitus, Type 2 , Hearing Loss, Sensorineural , Molecular Biology , Mothers , Point Mutation , Rhabdomyolysis , RNA, Transfer, Leu , SiblingsABSTRACT
BACKGROUND: It has been suggested that acromegalic patients are at increased risk of developing colonic neoplasia. We evaluated the prevalence of colonic neoplasia and the relationships of clinical parameters of acromegalic activity with presence of colonic neoplasia in Korean acromegalic patients. METHODS: In 30 patients with active acromegaly, colonoscopy was performed at the time of diagnosis. According to the endoscopic findings and histological classifications, the patients were grouped, and a number of clinical parameters of acromegalic activity were compared between those with and without colonic polyps. RESULTS: Colonic polyps were detected in 17 (56.7%) in the 30 acromegalic patients with colonoscopic examinations; 7 (23.3%) hyperplastic and 10 (33.3%) adenomatous polyps. Those with colonic polyps were significantly older (52.2+/-9.46 years vs. 42.2+/-12.97 years, p=0.02) and also had significantly longer disease duration (11.8+/-7.52 years vs. 5+/-2.20 years, p=0.004) than those without ones. In 21 patients who were more than 40 years old, significant differences were found in disease duration (12.7+/-7.54 years vs. 5.0+/-2.68 years, p=0.026) and serum IGF-1 level (1311.9+/-500.14 ng/mL vs. 715.9+/-330.58 ng/mL, p=0.015) between those with and without colonic polyps. CONCLUSION: These results suggest that screening colonoscopy should be recommended in acromegalic patients who are more than 40 year-old, have long disease duration or have high serum IGF-1 level.
Subject(s)
Adult , Humans , Acromegaly , Adenomatous Polyps , Classification , Colon , Colonic Polyps , Colonoscopy , Diagnosis , Insulin-Like Growth Factor I , Mass Screening , PrevalenceABSTRACT
The purpose of this study was comparing the effectiveness in the topical applications of cyclosporine with that of steroid, the conventional and standard drug in the treatment of oral lichen planus. 21 patients with oral lichen planus were treated with cyclosporine (n=11) or steroid (n=10) by random allocations. They were recalled 2 weeks, 4 weeks, and 8 weeks after initial treatments. In each recall, the lesion size, clinical symptoms like pain or burning sensation, and side effects were evaluated. The differences of these measurements were compared and the effects of each drug were checked. In reticulation types, steroid showed higher effectivity than cyclosporine and this difference was significant statistically. But in erythema type lesions, either drug showed no significant recovery, statistically. However, the effect of cyclosporine was thought to be more effective. The pain of the lesions was significantly decreased by cyclosporine but not by steroid. The decrease of burning sensation was more dependant upon steroid than cyclosporine, but no statistical relationship could be found. There were no clinical side effects. There was limitation to draw in conclusion due to small pool of this study group. But with the results, this suggestion could be proposed that either drug might be superior to another in effectivity in a specific lesion type or patient symptom, so selection and usage of one drug in a specific case could be better than universal application of one drug in all cases.
Subject(s)
Humans , Burns , Cyclosporine , Erythema , Lichen Planus, Oral , SensationABSTRACT
Acute adrenal insufficiency may result from adrenal crisis, hemorrhagic destruction, or the rapid withdrawal of steroids from patient with chronic steroid medication, congenital adrenal hyperplasia or those on other drugs. Acute hemorrhagic destruction of both adrenal glands can occur due to infection, trauma, anticoagulant therapy, antiphospholipid syndrome or a coagulation disorder. However, there have been no reports on acute hemorrhagic adrenal insufficiency due to the Ebstein-Barr virus (EBV). Herein, a case of acute adrenal insufficiency, with bilateral adrenal hemorrhagic infarction, is reported in a patient with asymptomatic chronic adrenal insufficiency. A 42-year-old man presented with general weakness, weight loss and hyperpigmentation of several months duration. He suffered from a sore throat, general myalgia and a headache on admission. The laboratory findings were lymphocytosis, positive EBV IgM antibody, low cortisol level and a high level of adrenocorticotropic hormone (ACTH). Adrenocortical autoantibody and PCR for Mycobacterium tuberculosis showed negative findings. The serologic findings for CMV and HIV were negative. Fine needle aspiration of the adrenal gland revealed a hemorrhagic infarction and positive staining for the anti-EBV antibody. Acute adrenal insufficiency was then diagnosed with a bilateral adrenal hemorrhagic infarction due to the EBV infection in the patient, also with asymptomatic chronic adrenal insufficiency. This is the first case of acute adrenal insufficiency with bilateral hemorrhagic infarction, due to an EBV infection
Subject(s)
Adult , Humans , Adrenal Glands , Adrenal Hyperplasia, Congenital , Adrenal Insufficiency , Adrenocorticotropic Hormone , Antiphospholipid Syndrome , Biopsy, Fine-Needle , Epstein-Barr Virus Infections , Headache , Herpesvirus 4, Human , HIV , Hydrocortisone , Hyperpigmentation , Immunoglobulin M , Infarction , Lymphocytosis , Myalgia , Mycobacterium tuberculosis , Pharyngitis , Polymerase Chain Reaction , Steroids , Weight LossABSTRACT
BACKGROUND: Recently, the prevalence of diabetes mellitus in Korea is rapidly increasing. It is known that this increase is related with the change of environmental factors. We performed study to determine the prevalence of diabetes and to investigate their risk factors in Hope Village taking in low socio-economic people. METHODS: Total 1,425 subjects (905 men and 520 women) aged over 20 years in Daegu city Hope Village were venipunctured after overnight fasting to measure plasma glucose level and interviewed about their past medical and social history. We also collected standard anthropometric data. All the data were analyzed by SPSS 9.0 program. RESULTS: The prevalence of diabetes by using the revised new American Diabetes Association criteria was 13.5% (male=10.1%, female=19.4%) and the prevalence of impaired fasting glucose was 11.3% (male=8.7%, female=15.8%). It was observed that the significant factors associated with diabetes were age, sex, serum triglyceride level, systolic blood pressure. CONCLUSION: The prevalence of diabetes in Hope Village was relative higher than that of the previous suggested population based studies in Yonchon County and Jungup District. But the risk factors of newly diagnosed diabetes were similar with those of the previous studies.
Subject(s)
Humans , Male , Blood Glucose , Blood Pressure , Diabetes Mellitus , Epidemiology , Fasting , Glucose , Ill-Housed Persons , Hope , Korea , Mentally Ill Persons , Prevalence , Risk Factors , TriglyceridesABSTRACT
Wilms' tumor is the most common malignant abdominal tumor in the adolescent and pediatric period, whereas adult Wilms' tumor is uncommon. Wilms' tumor often originates in the kidney. Extrarenal Wilms' tumor is rare and has been considered "unstageable". Therefore, treatment and long-term survival have not been uniformly reported. We report a 24 year-old female who developed extrarenal Wilms' tumor, in the retroperitoneal space. She was misdiagnosed for ovarian neoplasm and underwent debulking operation, by which Wilms' tumor was confirmed. Palliative chemotherapy and radiotherapy were performed.