Satoru Ohba

Population and family studies of dihydropyrimidinuria: Prevalence, inheritance mode, and risk of fluorouracil toxicity

To evaluate the prevalence of dihydropyrimidinuria (DHPuria), we analyzed urine samples from 21,200 healthy Japanese infants, and found two cases of DHPuria without clinical symptoms. Based on this result, we estimated the prevalence to be approximately 1/10,000 births in Japan. In addition, we analyzed pyrimidine catabolism on a previously reported family with an adult DHPuria case. We newly identified the sister of the propositus as the second case of DHPuria in this family, because she excreted large amounts of dihydrouracil and dihydrothymine. The parents and the child of the propositus showed slight increases of dihydrouracil and dihydrothymine. This is the first family with 2 cases of DHPuria, indicating that DHPuria is an inherited condition. To determine the inheritance of DHPuria in this family and to examine the risk of 5-fluorouracil (5-FU) toxicity, a uracil loading test was performed on the parents. Urinary dihydrouracil concentrations in the parents after the loading were several times higher than those in normal control persons, the finding being consistent with DHPuria heterozygotes. This, along with data on the propositus, his sister, and his child, indicates that DHPuria is an autosomal recessive condition. In addition, DHPuria homozygotes may have a high risk of 5-FU toxicity, while the risk is relatively low in heterozygotes.

Automated screening system for purine and pyrimidine metabolism disorders using high-performance liquid chromatography

An automated screening system for purine and pyrimidine metabolism disorders using high-performance liquid chromatography (HPLC) with column switching is described. The system consists of a reversed-phase column, a cation-exchange column, a column switch, four sets of ultraviolet absorbance detectors, a microcomputer and other conventional equipment. As this system permits the simultaneous determination of urinary orotic acid, uracil, dihydrouracil, pseudouridine, xanthine, 2,8-dihydroxyadenine and succinyladenosine, it offers a useful method for the detection of orotic aciduria, dihydropyrimidine dehydrogenase deficiency, dihydropyrimidinuria, xanthinuria, adenine phosphoribosyltransferase deficiency and adenylosuccinase deficiency.

Giant calcifying epithelioma of Malherbe (pilomatrixoma): imaging features.

Abstract We present a case of giant calcifying epithelioma of Malherbe (pilomatrixoma) in the right upper arm of a 62-year-old man. It measured 18×12×8 cm in size, making it the largest of all the cases reported previously. CT clearly demonstrated a well-defined, subcutaneous mass with amorphous calcifications. The mass showed intermediate signal intensity on T2*-weighted MR images and slight contrast uptake on contrast-enhanced MR images. Histopathologically, this tumor showed no aggressive or malignant nature. The patient is without evidence of recurrence or metastasis 3 years following the resection.

Calcific tendinitis of the gluteus maximus tendon with cortical bone erosion : CT findings

A case of calcific tendinitis of the gluteus maximus tendon with cortical erosion is presented. Roentgenography demonstrated calcification on the posterior surface of the proximal femur. Computed tomography showed flame-like appearance of calcific tendinitis and bone erosion. Magnetic resonance imaging showed minimal inflammatory reaction around the lesion.

MR imaging of muscular sarcoidosis after steroid therapy.

Abstract. The nodular type of muscular sarcoidosis has been known to show characteristic MR findings; however, MR imaging features after steroid therapy have not been reported. A 48-year-old man with nodular type of muscular sarcoidosis is reported. Prior to steroid therapy, axial MR images showed peripheral increased signal intensity and central star-shaped decreased signal intensity. Coronal images showed an inner stripe of decreased signal intensity and outer stripes of increased signal intensity. After steroid therapy, axial images showed only the central star-shaped area of decreased signal intensity. Coronal images showed only the inner stripe of decreased signal intensity. It is important to know that the central area will continue to exist after steroid therapy.

Dihydropyrimidinuria: the first case in Japan.

Dihydropyrimidinuria (McKusick 222748) is a recently described disorder of pyrimidine metabolism that presents neurological symptoms different in degree. Only two cases have been reported to date (Duran et al, 1991; Henderson et al, 1993). The patients with dihydropyrimidinuria excrete large amount of dihydrouracil and dihydrothymine, and moderate amount of uracil and thymine in urine. Therefore this disease is thought to be caused by a deficiency of dihydropyrimidine amidohydrolase (DHPase; EC 3.5.2.2), the second step of pyrimidine base catabolism. The first case, reported by Duran et al (1991), was hospitalized for convulsion and disturbed consciousness at the age of 8 weeks, but whose subsequent development had been normal. The second case reported by Henderson et al (1993) presented severe developmental delay. These two patients were discovered by the urinary gas chromatography mass spectrometry (GC-MS) analysis for the neurological sick children. We report here another case of dihydropyrimidinuria which is the first case in Japan and probably the third worldwide. We discovered her by using high-performance liquid chromatography (HPLC) at the mass screening program.

Magnetic resonance imaging of pseudomalignant osseous tumor of the hand.

Noninfectious, nonneoplastic reactive processes of the hand, such as myositis ossificans circumscripta, pseudomalignant osseous tumor of soft tissue, and florid reactive periostitis, appear similar radiologically and histologically and are often difficult to differentiate. Magnetic resonance (MR) findings in two such lesions are reported. The extensive reactive change in the extraosseous soft tissue and the bone marrow and the relatively small extent of ossification may be characteristic. Although low-grade infection and small osseous neoplasms with reactive changes, such as osteoid osteoma, may still remain possible causes, MR imaging provides essential evidence for including noninfective, nonneoplastic reactive processes of uncertain cause in the list of differential diagnoses.

Amyloid arthropathy of the hip joint: MR demonstration of presumed amyloid lesions in 152 patients with long-term hemodialysis.

Abstract. The aim of this study was to determine the spectrum of MR findings of presumed amyloid arthropathy of the hip joints in patients on long-term hemodialysis. We prospectively performed T1- and T2-weighted spin-echo imaging on 152 consecutive patients on hemodialysis. The duration of hemodialysis ranged from 5 months to 24 years, 2 months (mean: 8 years, 8 months). The frequency, location, and signal intensity of bone lesions were assessed. In 12 cases with contrast-enhanced MR examination, enhancement pattern of bone lesions, synovial lesions, and intra-articular lesions were characterized. Bone lesions presumed to be amyloid deposits were identified in 60 patients (39 %). Magnetic resonance imaging revealed that amyloid lesions were more extensive than anticipated by plain radiographs. All bone lesions showed decreased signal intensity on T1-weighted images. On T2-weighted images, bone lesions showed increased signal intensity in 32 patients (54 %), decreased signal intensity in 11 patients (18 %), and both increased and decreased signal intensity in 17 patients (28 %). Following intravenous injection of gadolinium-based contrast, all bone lesions showed moderate enhancement. Synovial thickening could not be identified on T1- and T2-weighted images. However, contrast-enhanced images showed thickened synovial membrane, which could be differentiated from joint fluid. Intra-articular nodules showed decreased or intermediate signal intensity on T1-weighted images and decreased signal intensity on T2-weighted images; the intra-articular nodules were contiguous with subchondral bone lesions. Magnetic resonance imaging is useful for evaluating the distribution and extent of amyloidosis of the hip joints in patients undergoing long-term hemodialysis.

Diffuse Pulmonary Lesions in Early Phase Takayasu Arteritis Predominantly Involving Pulmonary Artery

We report a case of early phase Takayasu arteritis that predominantly involved the pulmonary arteries and had, along with expected radiographic findings, the unusual pattern of diffuse pulmonary parenchymal lesions on CT. We suggest that this finding may be an additional feature in early phase Takayasu arteritis and need not require investigation for an additional diagnosis.

Dihydropyrimidinuria without clinical symptoms.

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