Expansion of trinucleotide repeats has been identified as a common mechanism of hereditary neurodegenerative diseases including spinal and bulbar muscular atrophy (SBMA), Huntington's disease, dentatorubral-pallidoluysian atrophy (DRPLA), Machado-Joseph disease (MJD), fragile X syndrome, myotonic dystrophy and Friedreich's ataxia. These diseases share unique features, which are difficult to explain based on Mendelian inheritance. These unique clinical genetic features include genetic anticipation and a broad spectrum of clinical presentations, which have been shown to be associated with the instability of the trinucleotide repeats. Recent studies suggest that gene products with expanded polyglutamine tracts may be toxic to neuronal cells, and the mechanisms of neurotoxicity should be thoroughly investigated. To develop therapeutic measures, creation of animal models or cell culture systems for the investigation of neurotoxicity will be indispensable.
(Internal Medicine 36: 3-8, 1997)

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A 45-year-old man was hospitalized because of acute hepatitis. His serum cholinesterase (ChE) was below 10 IU/l (normal range: 105-240 IU/l) during the disease course and after his recovery. The patient was suspected of having familial hypocholinesterasemia. His family members were healthy except that his father had hypertension and gall stones. Analysis of ChE gene in the propositus and his family revealed three point mutations at nucleotides 298 (CCA to TCA), 1, 410 (CGT to CGG) and 1, 615 (GCA to ACA). The first mutation caused an amino acid change at codon 100 from proline to serine, which was a new mutation not previously reported, but the second one was a silent mutation. The third mutation resulted in an amino acid alteration from alanine to threonine at codon 539 in exon 4 of the ChE gene. The mode of transmission of these mutations is described.
(Internal Medicine 36: 9-13, 1997)

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Recently, abnormal expression of a great variety of adhesion molecules has been reported in malignancy. Of these adhesion molecules, intercellular adhesion molecule-1 (ICAM-1) has been suggested to play an important role in the process of tumor invasion and distant metastasis. The purpose of this investigation was to assess the peripheral blood levels of soluble ICAM-1 and the effect of cytotoxic therapy upon these circulating molecules in a cohort of patients with lung cancer. This study comprised 19 lung cancer patients hospitalized in our institution (males 16 and females 3, mean age 60 years old). Serum concentration of soluble ICAM-1 was measured using a commercially available enzyme immunoassay test kit. These measurements were done before the initiation of any therapy and on day 5 of chemotherapy. Samples taken from healthy volunteers were available for comparison. Soluble ICAM-1 serum concentration was significantly higher (p<0.0001) in the cancer patients as compared to that of the control group. Serum levels of ICAM1 were more significantly (p<0.02) elevated in patients with advanced stages of disease. This study suggests the presence of an increased expression of circulating adhesion molecules in lung cancer. The concentration of this adhesion molecule was correlated with the clinical stage of the malignant disease, but did not change significantly after multidrug cytotoxic therapy.
(Internal Medicine 36: 14-18, 1997)

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Asp f I(18 kDa) and alkaline protease (33 kDa) are the 2 major antigens which are derived from Aspergillus (A.)fumigatus and have been implicated as possible virulence factors in the pathogenesis of Aspergillus-induced diseases. We attempted to detect fragments of genes encoding both proteins from fungus balls obtained at surgery or autopsy by polymerase chain reaction (PCR) amplification and then used PCR to test clinical samples. Frozen-stored fungus ball samples from a patient with acute myeloid leukemia complicated by Aspergillus pneumonia and from a patient with pulmonary aspergilloma were studied. We successfully amplified a 315 bp PCR product, the target sequence for Asp f I, and a 747 bp PCR product as a target sequence for alkaline protease (ALP) in both cases. In addition, 13 clinical samples including sputum specimens from patients with pulmonary aspergillosis were also examined. PCR analysis for the Asp f I (ALP) gene in clinical samples showed positive results in 5/10 (6/10) patients with pulmonary aspergilloma and in 3/3 (1/3) patients with invasive pulmonary aspergillosis. Culture data on A.fumigatus revealed positive results in 3/9 patients with pulmonary aspergilloma and in 2/3 patients with invasive pulmonary aspergillosis. This method can be used to recognize the involvement of A. fumigatus in various clinical settings where conventional culture results are not readily available.
(Internal Medicine 36: 19-27, 1997)

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We treated two cases of gastric anisakiasis presenting with severe chest pain. In both cases, there was a history of prior ingestion of raw saltwater fish. After endoscopic removal of larvae, the chest pain disappeared and never recurred. Other diseases causing chest pain were ruled out by symptoms, signs, blood tests, electrocardiography, chest radiograph, and ultrasonic examination of the heart and abdomen. Thus the chest pain was considered to be caused by gastric anisakiasis. Gastric anisakiasis should be included in the differential diagnosis of acute chest pain.
(Internal Medicine 36: 28-30, 1997)

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A 43-year-old female, admitted because of acute infero-posterior myocardial infarction, showed angiographic findings of 100% occlusion of left circumflex artery. Echocardiographic findings showed inferior hypokinesis, while a large left intraatrial tumor was also observed. The coronary angiography on the 17th hospital day showed complete reperfusion of the culprit lesion without stenosis. On the 21st hospital day, the removal operation of the tumor was performed. Pathological findings showed typical cardiac myxoma, and the etiology of the occlusion at the culprit vessel was presumed to be closely related to the existence of the left atrial tumor.
(Internal Medicine 36: 31-34, 1997)

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Treatment with a combination chemotherapeutic regimen consisting of cyclophosphamide, vincristine, and dacarbazine for malignant paraganglioma with hepatic metastasis is reported. A 51-year-old male presented with tumors in the retroperitoneal space and liver. The patient was diagnosed as having paraganglioma based on elevated levels of serum neuron-specific enolase, urinary catecholamine and vanillylmandelic acid, and on histological findings of the liver specimen. The patient was treated with this combination chemotherapy in repeated 21-day cycles. Temporary improvement in laboratory findings and a 20% reduction in the size of the hepatic masses were observed without severe adverse effects.
(Internal Medicine 36: 35-39, 1997)

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A 50-year-old man with a 7-year history of an ulcerative rash on the lower extremities had rapidly progressive renal failure. Monoclonal IgA (λ) was detected in his serum. Kidney biopsy revealed proliferative glomerulonephritis with dominant IgA and C₃ deposition, compatible with IgA nephropathy. Immunohistochemical staining with anti-λ, chain was negative and electron microscopic examination revealed deposits in subendothelial and mesangial areas. The findings on the skin biopsy were consistent with that of a pyoderma gangrenosum. The patient was treated with prednisolone pulse therapy followed by oral prednisolone. Renal function gradually and almost completely improved and proteinuria disappeared.
(Internal Medicine 36: 40-43, 1997)

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The cause of digital clubbing is unknown. Hepatocyte growth factor (HGF) is a pleotrophic factor which has various biological effects. We measured serum HGF in 12 patients with digital clubbing; the underlying diseases of these patients were: lung cancer, 2; cystic fibrosis, 2; idiopathic pulmonary fibrosis, 3; lung cancer with idiopathic pulmonary fibrosis, 1; chronic hepatitis, 1; interstitial pneumonia with collagen disease, 2; and bronchiectasis, 1; nine hundred and fifty-seven normal volunteers and 17 lung cancer patients without clubbing served as the control. As a result, the serum HGF concentration in patients with digital clubbing (0.47±0.29 ng/ml) was significantly higher when compared to that of lung cancer patients without digital clubbing (0.15±0.04, p<0.01). Therefore, we suggest that HGF may play a role in the formation of digital clubbing.
(Internal Medicine 36: 44-46, 1997)

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We report a case of bilateral lymphoma of the adrenal glands. A 61-year-old man was admitted to our hospital in clinical shock with anuria. Endocrine examination indicated a diagnosis of Addison's disease. Large tumors were found bilaterally in the suprarenal area, and a needle biopsy was performed, and the diagnosis was malignant lymphoma. Treatment with chemotherapy achieved a moderate response. He was discharged, but died 1 month later. On autopsy, microscopic examination showed extensive intravascular infiltration of lymphoma cells. We considered this to be a case of bilateral adrenal lymphoma with neoplastic angioendotheliosis.
(Internal Medicine 36: 47-52, 1997)

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We report a patient with chronic inflammatory demyelinating polyneuropathy (CIDP) accompanied by hepatocellular carcinoma (HCC). Due to the remarkable weakness in the lower limbs and loss of the position sense, he could not walk. On neurophysiological examination, he had impaired nerve conduction velocities. Biopsied nerve and muscle specimens demonstrated demyelination of nerve fibers and neurogenic degeneration of muscles. After steroid therapy he showed marked improvement in muscle strength and sensory function.
(Internal Medicine 36: 53-55, 1997)

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A female patient visited our hospital with abdominal pain and anemia. Examination for a gastrointestinal disease gave no diagnostic information. Laboratory studies of the parameters of heme biosynthesis revealed an enzymatic inhibition by lead. The diagnosis of lead poisoning was confirmed by detection of an elevated blood lead level. Excessive lead ingestion was thought to be caused by herbal medicines and/or by an earthen teapot.
(Internal Medicine 36: 56-58, 1997)

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We encountered a 67-year-old man who presented with repetitious dysphasia accompanied by periodic lateralized epileptiform discharges (PLEDs) on the electroencephalogram. A good correlation was established between the dysphasia and the PLEDs. A persistent partial seizure accompanied by PLEDs originating in the left hemisphere presented with dysphasia clinically. None of the previously reported patients with epileptic dysphasia had accompanying PLEDs. The administration of carbamazepine was successful to terminate the seizure, however valproate was not. This case indicates that PLEDs may produce significant, however reversible, functional damage, and may advance our understanding of the pathophysiology of epileptic dysphasia.
(Internal Medicine 36: 59-61, 1997)

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A 45-year-old Japanese man with Sjöogren's syndrome developed recurrent skin ulcers, palpable purpura, and dyspnea. Serum mixed-type cryoglobulin level was elevated. A biopsy of his skin lesion showed the characteristic leukocytoclastic vasculitis of mixed-type cryoglobulinemia. Dyspnea, skin ulcers, and purpura resolved along with a reduction in the serum cryoglobulin level after prednisolone administration. This patient demonstrated cryoglobulinemia-associated vasculitis, as well as possible cryoglobulinemia-associated pulmonary symptoms.
(Internal Medicine 36: 62-67, 1997)

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We report a patient with Churg-Strauss syndrome-associated rapidly progressive glomerulonephritis concurrent with diabetes mellitus. The patient was a 64-year-old woman who was admitted to our hospital because of a glove and stocking type hypesthesia and numbness, multiple purpurae on both legs, and renal insufficiency with hematuria and proteinuria. Renal biopsy revealed necrotizing crescentic glomerulonephritis accompanied by necrotizing arteritis, marked eosinophilic infiltration of the interstitium, and diffuse and nodular diabetic glomerulosclerosis. Cyclophosphamide and steroid therapy succeeded in improving her neurologic symptoms as well as retarding the deterioration in renal function. No clinical manifestations suggestive of a recurrence of Churg-Strauss syndrome have been observed during the one-year follow-up period.
(Internal Medicine 36: 68-72, 1997)

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A rare case of systemic sclerosis that preceded the development of diabetes insipidus is reported. This 25-year-old man presented with Raynaud's phenomenon and ulceration of the tip of the right thumb. The diagnosis of systemic sclerosis was based on findings of proximal scleroderma, sclerodactyly, serological abnormalities, and skin abnormalities verified histologically. Partial central diabetes insipidus was later diagnosed after the sudden appearance of polyuria and polydipsia. Coexistence of systemic sclerosis with diabetes insipidus suggests that diabetes insipidus in this patient might have occurred via an autoimmune mechanism.
(Internal Medicine 36: 73-76, 1997)

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