We studied a patient with severe anemia and jaundice who exhibited a high hemoglobin A1 (HbA1) level secondary to an increase in HbF despite normal glucose tolerance. The red blood cells showed anisocytosis, poikilocytosis and polychromasia; target cells, Howell-Jolly bodies, Heints bodies and punctate basophilia were observed. No defect or reduction in activity was observed in 19 red cell enzymes. A family history of similar anemia in the patient's daughter and cousins on the mother's side indicated an involvement of genetic factors. Gene cloning and DNA analysis showed that the condition is a new type of β⁰-thalassemia caused by a nonsense mutation (GAG→TAG) in codon 90 of the β-globin gene.

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Six cases of chronic myelogenous leukemia (CML) with coexistence of cells with a Philadelphia (Ph) translocation and a normal karyotype are described. Molecular analyses were performed in 3 of the 6 cases at two phases with different cytogenetic findings. Among the 6 cases, 4 cases were late appearance of a Ph chromosome. Two of the 3 patients analyzed had major breakpoint cluster region (Mbcr) rearrangements; aberrant Mbcr fragments were observed whether the cells had a Ph translocation or not. The remaining one did not show any rearrangements within the Mbcr DNA sequences.

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We evaluated whether reduction in sympathetic reactivity plays a major role in the spontaneous falls in blood pressure (BP) experienced during hospitalization by patients with essential hypertension. In the present case BP fell on the 2nd day of hospitalization. The responses of plasma catecholamines (CA) and BP to both handgrip and tilting were not altered during either the first 24 hours or the entire 7 days of hospitalization. The effect of phentolamine on BP was similar on the 1st, 2nd and 7th days. However, the resting levels of plasma norepinephrine before handgrip, tilting and phentolamine were significantly diminished on the 7th day, but not on the 2nd day. In conclusion, the diminution of sympathetic activity may be partly responsible for the hospitalization-induced fall in BP in the late stages.

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Pre-operative and post-operative echocardiographic data were analyzed from 8 patients with acromegaly. Pre-operatively, end-diastolic diameter was greater than 55 mm in 5 patients (63%) and concentric left ventricular hypertrophy was observed in 3 patients (38%). However, left ventricular function was normal (fractional shortening of the left ventricle > 28%) in all patients except 1. All patients had increased left ventricular mass. There was no significant correlation between left ventricular mass and basal plasma growth hormone concentration. An average of 23.9 months after hypophysectomy, growth hormone concentration was significantly decreased. However, the abnormal echocardiographic findings remained. In conclusion, echocardiographic abnormalities (left ventricular dilatation and hypertrophy) are common in patients with acromegaly, but systolic function is, in general, maintained. These cardiac abnormalities persist after reduction of plasma growth hormone concentration.

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A case of a clinically "silent" pheochromocytoma is presented. The adrenal mass was incidentally discovered by abdominal ultrasonography and computed tomography. In the course of hospitalization, the patient was normotensive and asymptomatic. Plasma catecholamine levels were nearly normal, whereas urinary levels of catecholamine metabolites were slightly elevated. A glucagon provocative test and ¹³¹I-metaiodobenzylguanidine scintigram were useful for diagnosing such an atypical pheochromocytoma. A discussion of clinically-unsuspected pheochromocytoma is also presented.

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A 44-year-old woman was hospitalized for nonproductive cough. Chest roentogenogram revealed a calcified nodular mass at the right hilum. The patient was treated as tuberculosis of the hilar lymph node, however, her symptom sexacerbated within a year. A tumor obstructing the right main stem bronchus was demonstrated on bronchofiberscopic examination. Thoracotomy was carried out and tumor was diagnosed as primary osteogenic sarcoma of the pulmonary artery by pathological examination of the resected specimen. There was no clinical finding of osteogenic sarcoma throughout the bones.

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A patient with Addison's disease, treated with conventional hydrocortisone replacement, developed deep hyperpigmentation, headache and vomiting. Plasma adrenocorticotropin (ACTH) level was extremely high, showing abnormal diurnal rhythm. Suppression of ACTH with glucocorticoids was attenuated and the responses to ovine corticotropin-releasing hormone (oCRF) and lysine vasopressin (LVP) were absent. Magnetic resonance imaging (MRI) suggested an enlargement of the pituitary gland, while immunohistological examination of pituitary fragments obtained by transsphenoidal surgery revealed corticotroph hyperplasia without microadenoma. Postoperatively, plasma ACTH returned to normal and adequately responded to oCRF and LVP. Over the year since surgery, the symptoms have gradually improved and the patient has resumed normal activities.

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We describe a case of polymyositis associated with hyperthyroidism (Graves' disease). Clinical findings and thyroid function tests revealed hyperthyroidism. On histological examination, it was found that the thyroid gland was involved in chronic thyroiditis, and no appearance of Graves' disease was noted. This case suggested that the patient's muscle weakness might have been related to a disturbance of thyroid function, that is, coexistence of subclinical thyrotoxic myopathy. There were fluctuations in the levels of various antibodies during the clinical course of this overlap syndrome.

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A 44-year-old woman was admitted because of stupor. She had consumed 3 liters of water due to thirst after drinking alcohol. Laboratory findings on admission revealed marked hyponatremia (sodium: 115 mEq/l). She was diagnosed as having water intoxication. She recovered from her hyponatremia upon excretion of a large amount of hypotonic urine. Subsequently, however, her serum creatine phosphokinase was markedly elevated at 28, 650 IU/l, and her serum myoglobin reached 2, 760 ng/ml. The relationship between the occurrence of hyponatremia secondary to water intoxication and rhabdomyolysis was suggested.

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A 19-year-old man with common acute lymphoblastic leukemia (ALL) developed necrotizing leukoencephalopathy (NL) after extensive chemotherapy and irradiation. Clinicians should exercise care in the treatment of leukemia, since chemotherapy has shown a trend of becoming more intensive, and the survival time of patients with leukemia is being extended.

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A 54-year-old man began to feel numbness in his hands at the age of 42 (1975). His condition became progressively worse accompanied by muscle weakness of the lower limbs and glove and stocking paresthesia of the extremities. The patient was admitted to our hospital on March 23, 1987. Neurological examination revealed distal dominant muscle weakness, sensory disturbance and areflexia. Electrocardiogram and ultrasoundcardiogram strongly suggested cardiomyopathy. A biopsy of the rectal wall and the cardiac muscle revealed amyloid deposits. The patient, his elder brother and one of his daughters had abnormal serum transthyretin (TTR, a protein referred as prealbumin). Therefore, the diagnosis of familial amyloidotic polyneuropathy (FAP) was confirmed. The patient's brother and daughter mentioned above, however, had no abnormal findings on physical examination and they were thus considered to be asymptomatic carriers. There maybe more cases of asymptomatic carriers, if examination of abnormal TTR is more frequently analyzed.

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A 48-year-old female patient with vitiligo developed primary hypothyroidism and hypoacusis. The signs and symptoms of hypothyroidism improved with thyroid hormone replacement therapy but hypoacusis did not. The coexistence of vitiligo and thyroid disease is uncommon and the additional association of hypoacusis is very rare. There may be a common autoimmune pathogenesis for the three disorders. Vitiligo may be a diagnostically useful sign which suggests the presence of multiple autoimmune diseases.

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Antibodies to islet cells and thyroid gland were examined in a mother with insulin-dependent diabetes mellitus and Graves' disease and in her infant. Islet cell antibodies (ICA), complement-fixing ICA, islet cell surface antibodies (ICSA) and anti-microsomal antibodies (MAb) persisted in the mother during pregnancy. At birth, ICA, ICSA and MAb could be detected in the infant. ICSA and ICA in the infant disappeared by the 3rd and 7th months, respectively. There was no clinical or laboratory evidence of diabetes in the infant. These data suggest that anti-islet cell antibodies themselves may have no significant effect on islet cells.

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We describe a case of systemic lupus erythematosus (SLE) with nephrotic syndrome who suffered from myocardial infarction and cerebral infarction associated with hyperLp(a) aemia. The proband was an 18-year-old Japanese male who was found to have hypercholesterolemia and hyperLp(a) aemia, with a serum total cholesterol level of 361 mg/dl and a serum Lp(a) level of 197 mg/dl. His father and mother showed higher Lp(a) levels (26 and 56 mg/dl, respectively) than those in normals (18 ± 0.6 mg/dl, mean ± SE). Lp(a)glycoprotein phenotypes were examined. The proband had the phenotype S_2/4, which is associated with high Lp(a) concentration. His parents had the phenotype S_3/4 and S_2/4. No cardiovascular diseases were noted in other members of his family. After treatment with CS-514, a competitive inhibitor of 3-hydroxy-3-methylglutaryl coenzyme A reductase, Lp(a) levels decreased from 197 to 121 mg/dl, but still remained abnormally high. LDL apheresis using a Liposorber^® system was attempted in this patient. Total and LDL cholesterol levels decreased by 57 and 62%, respectively. Lp(a) levels decreased by 68%. These results suggest that LDL apheresis may be an alternative therapy in drug resistant hyperLp(a)aemia.

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Two characteristic cases of Reiter's syndrome are reported. One (case T.M) was a 64-year-old female with ulcerative colitis and the other (case O.M) was a 20-year-old male with serum antistreptococcal lysine O (ASLO) and antistreptokinase (ASK) titers of 480× and 2560×, respectively. These cases were both histocompatibility antigen HLA-B27 positive. The ulcerative colitis and iritis were inactive in case T.M. However, case O.M required aggressive treatment for fever and arthralgia. These patients have recently shown no evidence of Reiter's syndrome; however, case T.M has had recurrent bowel hemorrhages due to ulcerative colitis.

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A case of severe bacteremic pneumococcal pneumonia which developed in a patient with lung cancer, who was taking ofloxacin for chemoprophylaxis, is presented. Pneumonia resolved well with intravenous penicillin G. Infection by and colonization with Streptococcus pneumoniae might become a problem with increasing use of the fluoroquinolones.

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Relapsing Polychondritis (RPC) is a rare disorder of unknown etiology which affects mucopolysacchariderich tissues such as cartilage. A 64-year-old mandeveloped auricular and nasal chondritis with complaints of arthralgia of the hands and cervical pain. The auricular biopsy established the diagnosis of RPC. The hematological data revealed normocytic, slightly hypochromic anemia, a persistently elevated reticulocyte count, slightly increased bilirubin, and decreased haptoglobin. The presence of hemolytic anemia was confirmed by the shortened half-life of erythrocytes and erythroid hyperplasia of the bone marrow. This case illustrates the coexistence of RPC and hemolytic anemia which has been only rarely reported. The pathogenesis of RPC is also discussed may elucidate the pathogenesis of this disease.

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A 65-year-old man with progressive muscle weakness and liver dysfunction following massive small bowel resection showed myriad lipid-filled vacuoles in type I muscle fibers. Carnitine was significantly decreased in muscle, serum and urine. Carnitine supplementation was followed by clinical improvement and decreased lipid droplets in biopsied muscle. He had been receiving carnitine-deficient total parenteral nutrition. This form of carnitine deficiency may be due to a defect in carnitine biosynthesis, as well as dietary carnitine deficiency.

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A 35-year-old previously healthy woman developed left hemiparesis sixteen weeks after the onset of right herpes zoster ophthalmicus. Cerebral angiography showed complete occlusion of right middle cerebral artery at the origin and segmental narrowing of the right posterior cerebral artery. Computerized tomography (CT) and magnetic resonance imaging (MRI) also revealed a right hemispheric lesion consistent with angiographic findings. Reports from the literature along with the present case suggest that arteritis followed by cerebral infarction is the most probable cause of delayed contralateral hemiparesis.

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Complete atrioventricular block following radiation is very rare. We present a case which developed after radiation therapy for malignant thymoma. The etiology of conduction disturbances due to radiation is unknown. In our case, serial electrocardiograms showed stepwise progression of the conduction disturbance, and His bundle electrocardiograms revealed new prolongation of the H-V interval. Endomyocardial biopsy specimens demonstrated occlusion in small arteries and diffuse degenerative changes in the myocardium. We therefore attributed the complete atrioventricular block in our patient to secondary damage to the conduction system, caused by radiation-induced occlusive changes in the small arteries supplying the conduction system.

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