The clinical course and prognosis of Duchenne muscular dystrophy (DMD) was compared in patients with deletions of the gene for dystrophin (cDMD) and those without such deletions. A total of 24 patients was followed for at least 2 yrs. At age 12 the rating of the activities of daily life (ADL) and disease stage were less favorable in those patients with deletions of the gene for cDMD. At age 14, no difference in ADL and disease stage was observed between the two groups. The percent vital capacity was lower in those patients with the cDMD deficit. When the prognosis was evaluated by multivariate analysis of the data obtained at age 12, the percent of patients predicted as dying before the age of 20 was 40% for those without the cDMD deficit but 76% for those who were cDMD defective. None of the cDMD defective patients lived longer than 20 yrs, whereas 5 of 14 patients without the cDND deficit survived longer than 20 yrs. Disorders such as cardiac and respiratory failure were also seen more frequently in the cDND defective patients. These results suggest that patients with Duchenne muscular dystrophy with defective cDMD have more severe disease than those without cDMD deficit.

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The effect of glucagon infusion (15-20 ng/kg/min, for one hour) on renal hemodynamics was examined in normal subjects and in patients with chronic glomerulonephritis (CGN). In normal subjects, the glomerular filtration rate (GFR) was significantly increased by glucagon with a concomitant rise in effective renal plasma flow (ERPF) and filtration fraction (FF) (GFR/ERPF). In renal patients with a baseline GFR of above 90 ml/min/l/73 m², GFR was significantly increased in response to glucagon, without a significant rise in ERPF. The patients whose baseline GFR ranged from 40-90 ml/min had no significant increase in GFR, while ERPF rose significantly. These results suggest that the renal hemodynamic response to glucagon infusion were modified by the level of baseline GFR in patients with chronic glomerulonephritis.

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By immunoblot procedure it is possible to identify the pathogenic autoantibody responsible for platelet destruction in idiopathic thrombocytopenic purpura (ITP). We assessed the relationship between antiplatelet antibody activities detected by this technique and clinical thrombocytopenia in a patient with ITP whose antiplatelet autoantibody was directed toward an 85-kDa antigen. In this patient, over a 2-year-period, the platelet counts were not correlated with the levels of antiplatelet autoantibody detected by immunoblotting. The present observations suggest that IgG autoantibody directed toward a specific antigen is not necessarily a critical determinant of the degree of thrombocytopenia, and that factors other than IgG-Fc-receptor-mediated platelet destruction are also important in the determination of the disease activity in ITP.

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Pulmonary involvement in two autopsy cases with HTLV-I-associated myelopathy (HAM) was observed histopathologically and immunohistochemically. Case 1 was a 59-year-old woman who fell ill after having a blood transfusion, and died immediately of acute heart failure. Case 2, a 55-year-old man, died of pelvic tumor after a long period of steroid medication for the myelopathy. Histologically, in case 1, the submucosal stroma of bronchioles was thickened with T-lymphocyte infiltration. In addition, clusters of B-lymphocytes were aggregated beneath the epithelial layer of respiratory bronchiole; the alveolar septum was infiltrated with a few T-lymphocytes. Furthermore, many B-lymphocytes were aggregated in the submucosal stroma of large bronchi. On the other hand, obvious pathological changes were not seen in the lung tissues of case 2. The long period of steroid medication may account for the fewer findings in case 2.
These results present the possibility that latent inflammatory changes develop in the lung of HAM patients, although clinical manifestations are not obvious, and that steroid therapy can modify those inflammatory changes.

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Lipoprotein (Lp)(a) concentrations were measured in eight patients with nephrotic syndrome in the age range of 8 to 69 yrs. Mean (±SE) levels of serum Lp(a) were elevated in the nephrotic patients compared to controls (76.5±19.7 vs 18.6±0.9 mg/dl, p<0.001). After treatment with prednisolone, Lp(a) concentrations were decreased from 85.2±21.6 to 42.2±14.0 mg/dl. During the treatment, serum total cholesterol showed a negative correlation with serum albumin concentration. However, no correlation was noted between Lp(a) and serum albumin concentration. There were no significant correlations between Lp(a) and other lipoprotein lipid and apolipoprotein levels. It was concluded that hyperLp(a) aemia may be an independent risk factor in the development of premature atherosclerosis in patients with nephrotic syndrome.

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A 55-year-old woman with bilateral multiple adenomas showed hypertension, muscle weakness, hypokalemia, moon-like face and truncal obesity. Increased serum and urinary levels of aldosterone were observed. Serum cortisol level did not show a normal circadian rhythm. Microscopic examination of the resected tumors showed two types of adenoma cells; one (golden yellow tumor) was a large clear cell with foamy cytoplasm which possibly secreted aldosterone and the other (dark brown tumor) was an acidophilic cell with lipofuscin which might have produced cortisol. This is a very rare case of primary aldosteronism with Cushing's syndrome due to multiple bilateral adrenal adenomas.

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An increasing number of drugs have been implicated in the etiology of eosinophilic pneumonia characterized by the development of pulmonary infiltrates, and peripheral blood eosinophilia. Naproxen is a commonly used nonsteroidal anti-inflammatory drug which may be added to the growing list of pharmacologic agents associated with infiltrative pulmonary lesions. A case of eosinophilic pneumonia induced by Naproxen is described. The results of TBLB, a lymphocyte stimulation test, and a challenge test supported this diagnosis.

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Percutaneous transluminal renal angioplasty was performed in a 63-year-old diabetic woman who had renovascular hypertension with solitary functioning kidney and diffuse atherosclerosis. Angioplasty was technically successful, while thereafter, fever and myalgia of legs occurred with gradual increases in blood urea nitrogen and creatinine. The patient became uremic over a month after angioplasty and was placed on dialysis. She died six months after angioplasty. Autopsy revealed cholesterol embolization in bilateral kidney, pancreas and spleen, causing subacute renal failure. It is suggested that careful assessment of the patient should be made when determining the need for renal angioplasty for renovascular hypertension with a solitary functioning kidney.

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A case of subclinical Sjögren's syndrome was diagnosed when the patient delivered a baby with SSA antibody-positive congenital heart block (CHB). The mother had been asymptomatic throughout her life. The laboratory findings including sialography, lip biopsy, Schirmer's test and a Rose-Bengal test showed Sjögren's syndrome. Such an asymptomatic case is termed subclinical Sjögren's syndrome. Thus, it was important to investigate an asymptomatic mother who delivers a SSA antibody-positive CHB baby.

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A 63-year-old male, who had undergone angiography using thorium dioxide (Thorotrast) at the age of 15 for investigation of a giant hemangioma on his left thigh, developed anemia in September 1986 (47 yrs after the angiography). A diagnosis of erythroleukemia was made from a bone marrow study which showed 56.4% megaloblastoid erythroblasts and 12.8% myeloblasts. Autopsy revealed Thorotrast deposition in the liver, spleen, bone marrow, and lymph nodes, and monotonous proliferation of myeloblasts in the bone marrow. He also had differentiated tubular adenocarcinoma of the posterior wall of the stomach.

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In this rare case of adult hypophosphatasia, no radiological abnormalities of the skeletal system could be detected even by dual energy X-ray absorptiometry. Severe dental caries was the sole clinical manifestation, indicating this case as an "odontohypophosphatasia". The levels of serum osteocalcin were low, which may be a useful biochemical marker to diagnose hypophosphatasia. Southern blot analyses of the genomic DNA revealed no gross abnormalities. Thus, hypophosphatasia in this patient was presumed to be caused by point mutations or small deletions. In a review of previous reports, an increased incidence among women was found.

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A rare case of hepatocellular carcinoma who developed the complication of the sign of Leser-Trelat is reported. The patient, a 57-year-old male, visited our hospital with complaints of generalized malaise and anorexia. A diagnosis of hepatocellular carcinoma was made based on elevated alpha-fetoprotein measurement, ultrasonography, and hepatic arteriography findings. Chest x-ray film suggested pulmonary metastases of hepatocellular carcinoma. Thereafter, complications of the seborrheic keratosis developed in the trunk and the skin lesion was diagnosed as the sign of Leser-Trelat associated with hepatocellular carcinoma. The patient died of pneumonia 9 months after development of the sign of Leser-Trelat.

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A 55-year-old man with a chief complaint of melena had diffusely infiltrated lymphoma from the rectum to the sigmoid colon and polyclonal hypergammaglobulinemia. Biopsy specimen obtained from the rectum revealed diffuse medium-sized lymphoma cell with plasmocytosis. Histochemical analysis with monoclonal antibodies indicated that the origin of the tumor cell to be T-lymphocyte. Chemotherapy with cyclophosphamide, vincristine and prednisolone (VEP regimen) was effective for mucosal bleeding of the colonic lesion and reduction of polyclonal hypergammaglobulinemia. Five yrs later he showed recurrence of the disease and elevation of serum alphafetoprotein, and died of pulmonary infections. Autopsy finding confirmed the diagnosis of malignant lymphoma of the colon and disclosed the association of hepatocellular carcinoma.

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A patient with extramedullary solitary tumor had progressive sensory motor neuropathy, generalized pigmentation of skin, pretibial edema and gynecomastia. Serological examination of this patient showed monoclonal IgA-λ gammopathy. Histologically, the tumor was defined as an IgA (λ type) positive extramedullary plasmacytoma by using peroxidase anti-peroxidase staining. The tumor was accompanied by angiofollicular lymphoid hyperplasia. Pathologically, it was recognized as an extramedullary plasmacytoma associated with Castleman's disease like changes, and was successfully treated by surgical resection, followed by irradiation.

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We report five patients who have taken inorganic germanium preparations over a prolonged period. In all cases, the renal function deteriorated with no proteinuria or hematuria. Histological examination of the kidneys showed widespread tubular degeneration and interstitial fibrosis with minor glomerular abnormalities. Most patients had gastrointestinal symptoms such as vomiting, anorexia and weight loss; one patient had peripheral neuropathy and myopathy. A considerable amount of germanium was detected in the hair or nails of these patients. These cases clearly show that abuse of inorganic germanium compounds can induce renal damage with various extrarenal manifestations.

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A 26-year-old male patient with pachydermoperiostosis is reported. He had severe anemia with myelofibrosis. Treatment with iron, prednisolone, oxymethorone and 1 α (OH)D3 were not satisfactory. But steroid pulse therapy with parenteral iron improved his anemia and pancytopenia, but was not sufficient to relieve the bone marrow fibrosis or splenomegaly. The mechanism of anemia which was considered to be multifactorial including gastro-intestinal bleeding associated with peptic ulcer or erosion and bone marrow failure due to myelofibrosis, is discussed.

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A 61-year-old male with hepatocellular carcinoma (HCC) complicating liver cirrhosis presented hypophosphatemia progressing with HCC expansion and serum α-fetoprotein elevation. These changes were associated with an increased fractional excretion of phosphate and decreased theoretical phosphate threshold. There was increased nephrogenous cyclic adenosine monophosphate despite normal serum parathyroid hormone. Serum 1, 25-dihydroxyvitamin D levels were markedly reduced with normal 25-hydroxyvitamin D levels. There were no symptoms of osteomalacia, however, a slightly increased osteoid seam was elicited on autopsy. The hypophosphatemia could be explained by presumed secretion from HCC of humoral factors which have a phosphaturic effect and also inhibit 25-hydroxyvitamin D-l α -hydroxylase in renal tubular cells.

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Diffuse proliferative glomerulonephritis without IgA deposits (DPGN) in patients with pustulosis palmaris et plantaris (PPP) is described. This association has not been previously reported. Although PPP was resolved transiently after tonsillectomy, it was worsened coincidently at the time of exacerbation of DPGN. Improvement of proteinuria and PPP was observed after antiplatelet therapy. It was suggested that the renal manifestation and the development of PPP were associated.

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A 62-year-old Japanese female was admitted due to dyspnea. She showed a marked increase in CA19-9 (maximum, 192, 000 U/ml) and monoclonal IgM- κ type rheumatoid factor (RF) activity. The patient died of respiratory failure 3 months later. Autopsy findings revealed an infiltration of IgM- κ -positive plasma cells in the pulmonary interstitium, and therefore a diagnosis of lymphoid interstitial pneumonia (LIP) was made. The bronchoepithelial cells were stained with monoclonal antibody-reactive with CA19-9 antigen. This is the first documented LIP, associated with a marked increase in monoclonal IgM- κ type RF and CA19-9 in the serum.

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A 44-year-old woman with scleroderma-like skin lesions and malignant hypertension following mammoplasty is reported. Sclerotic change is an unusual finding for ordinary finding progressive systemic sclerosis. On admission, she had severe high-renin hypertension and progressive renal failure, suggesting scleroderma renal crisis. With intensive treatment for hypertension including angiotensin-converting enzyme inhibitor, the blood pressure was well controlled. It was then suggested that she had malignant hypertension due to scleroderma after silicone injection, or the so-called human adjuvant disease after cosmetic surgery.

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