ABSTRACT
Mutation in the mitochondrial gene at position 3243 was recently identified in a large pedigree of diabetes mellitus and deafness. As the mitochondria play an important role in glucose-stimulated insulin secretion in pancreatic beta-cells, we therefore searched for such mutations to detect a candidate gene for diabetes. We screened 10 diabetic subjects with clinical features suggesting mitochondrial DNA mutations. An adenine to guanine point mutation in tRNA(Lys) in at position 8296 (the 8296 mutation) was newly identified. Subsequently, we screened 1216 diabetic subjects, 44 patients with sensorineural deafness subjects and 300 non-diabetic control subjects for this mutation. We identified the mutation in 11 (0.90%) unrelated diabetic subjects, one (2.3%) patient with deafness and no non-diabetic control subject. Seven of these 12 subjects showed maternal inheritance. Deafness was seen in 7 of 12 probands. Four family pedigrees showed maternal inheritance of diabetes over two or three generations. Subjects carrying the 8296 mutation may develop diabetes and the mutation can explain as high as ca. 1% of the causes of diabetes.
Subject(s)
DNA, Mitochondrial/genetics , Diabetes Mellitus/genetics , RNA, Transfer, Lys/chemistry , Base Sequence , DNA Mutational Analysis , Deafness/genetics , Diabetes Mellitus/epidemiology , Diabetes Mellitus, Type 1/genetics , Diabetes Mellitus, Type 2/genetics , Female , Genetic Testing , Humans , Japan , Male , Molecular Sequence Data , Pedigree , Point Mutation/geneticsABSTRACT
A case of rhabdomyolysis after a possible viral infection and the use of a cold medication is reported. A 41-year-old man who presented with dysarthria, dysphagia, progressive weakness of his muscles and a high grade fever was admitted. He suffered from massive rhabdomyolysis, acute renal failure, and bronchopneumonia. Hemodialysis, antibiotics, and hydration therapy were effective in the treatment of his illness. Although the cause of the rhabdomyolysis was not completely clear, he was subsequently shown to be susceptible to malignant hyperthermia (MH) based on the results of a caffeine-halothane contracture test. When a mild recurrence occurred during a follow-up muscle biopsy, intravenous dantrolene sodium was administered and he improved immediately. This case suggests that MH should be considered in patients with rhabdomyolysis when the cause is unclear. The caffeine-halothane contracture test may also be helpful in the diagnosis.
Subject(s)
Malignant Hyperthermia/complications , Rhabdomyolysis/etiology , Virus Diseases/complications , Adult , Caffeine , Chlorpheniramine/adverse effects , Common Cold/drug therapy , Dantrolene/therapeutic use , Halothane , Humans , In Vitro Techniques , Male , Malignant Hyperthermia/diagnosis , Malignant Hyperthermia/physiopathology , Muscle Contraction/drug effects , Nonprescription Drugs/adverse effects , Phenylephrine/adverse effects , Phenylpropanolamine/adverse effects , Rhabdomyolysis/diagnosis , Rhabdomyolysis/drug therapySubject(s)
Blood Glucose/metabolism , Diabetes Mellitus, Type 2/drug therapy , Enzyme Inhibitors/administration & dosage , Glycoside Hydrolase Inhibitors , Inositol/analogs & derivatives , Adult , Aged , Diabetes Mellitus, Type 2/enzymology , Dose-Response Relationship, Drug , Drug Administration Schedule , Drug Therapy, Combination , Enzyme Inhibitors/adverse effects , Female , Glycated Hemoglobin/metabolism , Humans , Hypoglycemic Agents/administration & dosage , Hypoglycemic Agents/adverse effects , Inositol/administration & dosage , Inositol/adverse effects , Male , Middle AgedSubject(s)
Deoxyglucose/blood , Diabetes Mellitus, Type 2/drug therapy , Enzyme Inhibitors/therapeutic use , Glycoside Hydrolase Inhibitors , Inositol/analogs & derivatives , Biomarkers/blood , Deoxyglucose/metabolism , Enzyme Inhibitors/administration & dosage , Female , Humans , Inositol/administration & dosage , Inositol/therapeutic use , Isomerism , Male , Middle AgedABSTRACT
A 63-year-old male was admitted to our hospital because of a coin lesion in the intrapulmonary bronchus. The patient had no symptoms such as cough or sputum. Imaging studies showed that the tumor was present in the S10b,c of the right lung. There was no metastasis or salivary gland tumor. Transbronchial tumor biopsy revealed a primary adenoid cystic carcinoma. The patient underwent a lobectomy, and has been well since the operation. This is an uncommon case of primary adenoid cystic carcinoma arising from the intrapulmonary bronchus.
