[Case of Creutzfeldt-Jakob syndrome presenting homonymous field defect in its early stage].
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Creutzfeldt-Jakob Syndrome↗
Biomedical subjects
S Ninomiya
Publications and source records attributed to S Ninomiya.
Rotational acetabular osteotomy using biodegradable internal fixation.
We used biodegradable poly-L-lactide screws in rotational acetabular osteotomy in 41 hips of 41 patients, and studied the complications after an average follow-up of 4.9 years (range 1.0-7.7 years). There were 39 females and 2 males, their average age at the time of the operation was 32 years (range 12-55 years). A small subcutaneous abscess appeared around the non-absorbable sutures in 2 patients after surgery. There was 1 case of thrombophlebitis and 1 of local dermatitis. The small subcutaneous abscess resolved after the removal of the suture material in the 2 cases, and the thrombophlebitis resolved with aspirin. The local dermatitis persisted but was cured by local steroid therapy over 5.8 years. The incidence of local dermatitis after the use of biodegradable implants should be further investigated.
Absorbable Implants↗
Rotational acetabular osteotomy for the treatment of dysplastic hips with end-stage osteoarthrosis--a biological alternative to total hip arthroplasty?
We evaluated the results of rotational acetabular osteotomy (RAO) for the treatment of dysplastic hips with end-stage osteoarthrosis. Sixteen patients, aged 15-45 years at the time of surgery, were reviewed at a mean follow-up of 8 years (range 3-17 years). Remodeling of the hip joint occurred in half of the patients, with significant clinical improvement. A subsequent total hip arthroplasty, however, was done within 2 years after RAO in two other patients who had had large bone cysts in the femoral head and acetabulum. We suggest that RAO may be the procedure of choice for selected young patients, especially teenage patients, to postpone total hip arthroplasty.
Acetabulum↗
Two novel mutations of SURF1 in Leigh syndrome with cytochrome c oxidase deficiency.
Cytochrome c oxidase (COX) deficiency is the most common cause of Leigh syndrome (LS). COX consists of ten nuclear-encoded and three mtDNA-encoded structural subunits. Although the nucleotide sequences of all 13 genes are known, no mutation was found in nuclear-encoded subunit genes of COX-deficiency patients. Zhu et al. (1998) and Tiranti et al. (1998) found nine mutations in the surfeit 1 (SURF1) gene in LS families with COX deficiency. The mouse surfeit gene cluster consists of six closely spaced housekeeping genes unrelated by sequence homology. Except for the Surf3 gene, the function is still not known. The juxtaposition of at least five of the surfeit genes is conserved between birds and mammals. We identified two novel mutations of SURF1 in a Japanese LS patient with COX deficiency using direct sequencing analysis. Firstly, a 2-bp deletion at nucleotide position 790 (790delAG) in exon 8 was found, which shifts the reading frame such that the mutant protein has a completely different amino acid sequence from codon 264 to the premature stop codon at 290. Secondly, we found a T-to-G transversion at nucleotide 820, resulting in the substitution of tyrosine by aspartic acid at codon 274 (Y274D). We also studied the parents' genes, and found that the Y274D mutation was in his father and the 790delAG mutation was in his mother heterozygously. Therefore, we concluded that the patient was a compound heterozygote with these mutations. These are the first pathogenetic SURF1 mutations identified in a Japanese family.
Amino Acid Substitution↗
Variation of hepatic methotrexate 7-hydroxylase activity in animals and humans.
This study deals with individual and species variations in the converting activity of methotrexate (MTX) to 7-hydroxymethotrexate in animals and humans. When MTX 7-hydroxylase was assayed in six human liver cytosols, a 48-fold range of intersubject variation of the activity was observed. The variations were correlated to the concentrations of aldehyde oxidase activity in human subjects assayed with benzaldehyde as a substrate. Species differences of liver MTX 7-hydroxylase activity were also observed. The activity was highest in rabbits, followed by rats, hamsters, and monkeys but was undetectable in dogs. Strain differences of MTX 7-hydroxylase activity based on aldehyde oxidase activity were also observed in rats and mice. The results suggest that aldehyde oxidase functions as MTX 7-hydroxylase in livers of animals and humans, and the observed differences of MTX 7-hydroxylase activity are due to variations in the amount of aldehyde oxidase present.
Adult↗
Diagnostic criteria for non-traumatic osteonecrosis of the femoral head. A multicentre study.
Six major and seven minor diagnostic criteria have been developed by the Japanese Investigation Committee for osteonecrosis of the femoral head (ONFH). We have carried out a multicentre study to clarify these. We studied prospectively 277 hips in 222 patients, from six hospitals, who had ONFH and other hip pathology and from whom histological material was available. We identified five criteria with high specificity: 1) collapse of the femoral head without narrowing of the joint space or acetabular abnormality on radiographs, including the crescent sign; 2) demarcating sclerosis in the femoral head without narrowing or acetabular abnormality; 3) a 'cold-in-hot' appearance on the bone scan; 4) a low-intensity band on T1-weighted images (band pattern); and 5) evidence of trabecular and marrow necrosis on histological examination. With any combination of two of these criteria, the sensitivity and specificity of the diagnosis were 91% and 99%, respectively.
Adolescent↗
[A case of giant meningioma that induced visual changes similar to those observed in amaurosis fugax in an early stage of disease].
The patient was a 47-year-old female. A giant meningioma was detected in the right middle cranial fossa by exploration for the cause of right-sided transient monoocular blindness of a 1-2 minute duration accompanied by headache. The headache was localized on the right side, occurred more frequently early in the morning, and continued for several hours. No neurological abnormality was noted except for right-side dominant bilateral choked disc and reduced vision. Both headache and transient monoocular blindness disappeared after total resection of the meningioma. A decrease in the cerebral blood flow associated with an increase in the intracranial pressure and right-sided occurrence of paroxysmal visual impairment due to choked disc were possible mechanisms of the transient monoocular blindness. Amaurosis fugax must be initially first in patients complaining of transient monoocular blindness, and exploration for carotid artery lesions is important. In the present case, however, this symptom led to detection of a giant meningioma.
Blindness↗
[Current topics of osteonecrosis of the femoral head].
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Animals↗
Simultaneous dislocation of the scaphoid and hamate bones.
We report a rare case of simultaneous dislocations of the hamate and scaphoid in an 18-year-old boy. Despite the extensive damage to the wrist joint, the functional results of open reduction and suture of intercarpal ligaments have been satisfactory, without carpal instability and degenerative osteoarthritis.
Adolescent↗
Long-term outcome of rotational acetabular osteotomy: 145 hips followed for 10-23 years.
We report the long-term outcome of rotational acetabular osteotomy in 145 dysplastic hips of 131 patients after an average follow-up of 13 (10-23) years. The mean age at operation was 28 (11-52) years. The radiographic severity of osteoarthrosis before operation, according to the criteria of the Japanese Orthopaedic Association, was stage I (no degenerative change) in 63 hips, stage II (early degenerative stage) in 49, stage III (progressive stage) in 21 and stage IV (end stage) in 12. The clinical outcome based on the Merle d'Aubigné and Postel score was excellent or good for 90 (80%) of the 112 hips which had stage I or II osteoarthrosis preoperatively, and was excellent or good for only 9 of the 33 hips which had stage III or IV osteoarthrosis (p < 0.001, chi-square test). The radiographic severity of osteoarthrosis at the most recent review was stage I or II for 79 (70%) of the 112 hips which had stage I or II osteoarthrosis preoperatively. The long-term outcome of rotational acetabular osteotomy was satisfactory for a dysplastic hip with little, if any, osteoarthrosis, but was unsatisfactory for a hip with more advanced osteoarthrosis.
Adolescent↗
Marmoset CYP1A2: primary structure and constitutive expression in livers.
Complementary DNA of marmoset CYP1A2 was isolated by means of screening the cDNA library and reverse-transcriptase polymerase chain reaction. The deduced amino acid sequence of marmoset CYP1A2 consisted of 516 residues and showed 88.2 and 90.0% identities to corresponding forms in human and cynomolgus monkey, respectively. S1 nuclease protection assay demonstrated that CYP1A2 mRNA was expressed constitutively in the liver, but not in the lung, kidney and small intestine. The level of CYP1A2 mRNA in the liver was increased by treatment with 3-methylcholanthrene and polychlorinated biphenyls. Marmoset CYP1A2 expressed in recombinant yeast activated 2-amino-3-methylimidazo [4,5-f]quinoline (IQ) and 2-amino-3,8-dimethylimidazo [4,5-f]quinoxaline (MeIQx) efficiently, and also activated 2-amino-1-methyl-6-phenylimidazo [4,5-b]pyridine (PhIP), but at a relatively lower rate in the umu mutagenicity test. Marmoset CYP1A2 also showed ethoxyresorufin O-de-ethylase activity. Based on these results, we demonstrate that marmosets constitutively express CYP1A2 in the liver as in humans.
Amino Acid Sequence↗
Complete endoscopic carpal tunnel release in long-term haemodialysis patients.
The roof of the carpal tunnel (or canal) consists of the distal portion of the flexor retinaculum, the flexor retinaculum (or the transverse carpal ligament) and the proximal portion of the flexor retinaculum. We tried to determine which anatomical structures were relevant to complete endoscopic carpal tunnel decompression in long-term haemodialysis patients with carpal tunnel syndrome. Carpal tunnel pressure was measured using the continuous infusion technique before and after endoscopic release of the flexor retinaculum, distal portion of the flexor retinaculum and the proximal portion of the flexor retinaculum respectively in 257 hands. We concluded that release of the distal portion of the flexor retinaculum, in addition to the flexor retinaculum, is essential for complete carpal tunnel decompression in long-term haemodialysis patients.
Adult↗
Cytochrome P450 species involved in the metabolism of quinoline.
Quinoline is a hepatocarcinogen in rats and mice and a well-known mutagen in bacteria after incubation with rat liver microsomes. The specific cytochrome P450 enzymes involved in quinoline metabolism in human and rat liver microsomes were determined using cDNA-expressed cytochrome P450s, correlations with specific cytochrome P450-linked monooxygenase activities in human liver microsomes and inhibition by specific inhibitors and antibodies. CYP2A6 is the principal cytochrome P450 involved in the formation of quinoline-1-oxide in human liver microsomes (correlation coefficient r = 0.95), but is formed in only minute quantities in rat liver microsomes. CYP2E1 is the principal cytochrome P450 involved in the formation of 3-hydroxyquinoline (r = 0.93) in human liver microsomes and is involved in the formation in rat liver microsomes. A high correlation coefficient (r = 0.91) between CYP2A6 activity and quinoline-5,6-diol formation in human liver microsomes was observed, but this most likely reflects the involvement of CYP2A6 in the formation of quinoline-5,6-epoxide, from which the quinoline-5,6-diol is formed, as conversion of quinoline-5,6-epoxide to quinoline-5,6-diol on incubation of the epoxide with CYP2A6 could not be demonstrated. A cDNA-expressed human microsomal epoxide hydrolase, however, efficiently converted the epoxide to the diol and the microsomal epoxide inhibitor cyclohexene oxide inhibited quinoline-5,6-diol formation in rat liver microsomes. A preliminary kinetic analysis of quinoline metabolism in human liver microsomes was carried out and Eadie-Hofstee plots indicate that the formation of quinoline-5,6-diol is monophasic, while that of quinoline-1-oxide and 3-hydroxyquinoline is biphasic.
Animals↗
Isolation of a testis-specific cDNA on chromosome 17q from a region adjacent to the breakpoint of t(12;17) observed in a patient with acampomelic campomelic dysplasia and sex reversal.
Campomelic dysplasia (CMPD), a rare congenital disorder, is characterized by a variety of skeletal anomalies, low-set ears and, in nearly half of genotypical-male patients, sex reversal. Observations of chromosomal translocations involving chromosome 17q24-q25 in several CMPD patients have implied that disruption of one or more genes in the breakpoint region is responsible for this disease. Using fluorescence in situ hybridization, we mapped the chromosome-17 breakpoint in a patient with acampomelic CMPD and sex reversal, who carries a de novo constitutional t(12;17) translocation, between two known cosmid markers in the 17q24-q25 region. Through positional cloning, we isolated a 3.5 kb cDNA that is located at a close but distinct position from the SOX9 gene, from the region surrounding this breakpoint. Its mRNA, approximately 3.7 kb long, was expressed specifically in testis among 16 adult tissues examined by Northern blot analysis. As we were unable to find any long open reading frame in the 3.5 kb cDNA sequence or to detect any peptide following an in vitro translation experiment using RNA transcribed from this cDNA, we speculate that this gene may play a critical role in differentiation or sex determination as a functional RNA.
Abnormalities, Multiple↗
Use of metronidazole gel to control malodor in advanced and recurrent breast cancer.
Intolerable malodor emanating from ulcerated tumors as a result of anaerobic infection is a serious problem in the management of advanced and recurrent breast cancer. Metronidazole can control this malodor, but its oral use may cause adverse reactions. We therefore formulated a metronidazole gel, since no equivalent preparation is commercially available in Japan, and used it in five female patients (four with advanced cancer and one with recurrent cancer) admitted to our hospital between March 1994 and July 1995. The patients were aged between 47 and 71 (median: 59) years, and the duration of morbidity in the four patients with advanced cancer ranged from 10 months to four years. In three patients, the tumors were larger than 10 cm x 10 cm. Metronidazole gel was applied to the surface of ulcerated tumors once or twice daily. Independent assessments by the patient, doctor and nurse were unanimous, and revealed that the malodor was alleviated in one patient after three days, and removed in four patients after two to five (median: four) days of metronidazole gel treatment. Culture of swabs showed a decrease or disappearance of anaerobic colonies. Adverse reactions characteristic of metronidazole did not occur. The topical use of metronidazole in a gel form will improve the quality of life for patients with malodorous ulcerated tumors and facilitate intensive treatment of the underlying disease.
Administration, Topical↗
Complete endoscopic carpal canal decompression.
We made a model of the endoscopic decompression of the carpal canal in clinical cases. The model entailed the release of the transverse carpal ligament, ie, the flexor retinaculum, first; then the transverse fibers: deep layer of the midpalmar fascia or distal portion of the flexor retinaculum; and, finally, release of the forearm fascia. Carpal canal pressure was measured using the continuous infusion technique, and the carpal canal was observed endoscopically at each step. Carpal canal pressure data were analyzed by using the Wilcoxon matched pairs signed-rank test. When the transverse carpal ligament and the transverse fibers were divided, carpal canal pressure was significantly statistically lower than that with release of the transverse carpal ligament alone. We conclude that release of both the transverse carpal ligament and the transverse fibers are essential for complete decompression of the carpal canal in endoscopic surgery.
Adult↗
Long-term follow-up results of rotational acetabular osteotomy in painful dysplastic hips: efficacy in delaying the onset of osteoarthritis.
We evaluated the results of rotational acetabular osteotomies in 13 severely dysplastic hips (11 patients) with subluxation. All of the patients were women, aged 20 to 35 years at the time of surgery, and 40 years or more at the time of follow-up. At a minimum follow-up period of 10 years, the patients had minimal or no pain. Of the 13 hips, 12 showed no significant findings of osteoarthritis. Comparing the outcome of these patients with the natural evolution of severely dysplastic hips, we concluded that rotational acetabular osteotomy may prevent the onset of osteoarthritis.
Acetabulum↗
[Rotational acetabular osteotomy--long-term results].
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Acetabulum↗