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A 39-year-old woman presented with atresia of the right atrial orifice of the coronary sinus with a persistent left superior vena cava detected at cardiac catheterization. She was admitted with frequent episodes of angina at rest and on exertion. Coronary angiography, including spasm provocation test, yielded normal results. However, left coronary arteriography demonstrated a dilated coronary sinus and a persistent left superior vena cava draining into the innominate vein. The contrast medium leaked slightly into the right atrial cavity through the obstructed orifice of the coronary sinus. Atresia of the coronary sinus orifice is a rare malformation usually found at autopsy. Only 3 cases have been reported in Japan. This is the first adult Japanese case detected when the patient was still alive.

The purpose of this study was to evaluate the single breath-hold fast inversion recovery sequence (FIR) for depicting the biliary tract. A prospective study was performed in 40 patients with suspected diseases in the biliary tract. MRCP (magnetic resonance cholangiopancreatography) including cholecystograms of diagnostic quality was carried out in 35 patients. Impacted common duct stones were able to be distinguished from malignancies because of their characteristic shapes of obstruction in four of five cases. FIR with thick slices can provide a shorter acquisition time and fewer artifacts with better signal to noise ratio and contrast to noise ratio than MIP images obtained by means of gradient echo methods. MRCP with FIR was a useful adjunctive tool for non-invasive evaluation of patients with obstructive jaundice.

Postoperative bronchopleural fistula has been the most troublesome complications in the thoracic surgery. In this report, we presented a case of bronchopleural fistula successfully closed by omentopexy. A 51-year-old man had undergone left upper lobectomy and S6 segmentectomy for primary lung cancer. Bronchopleural fistula due to postoperative pneumonia was developed and completion pneumonectomy with the intercostal-musclo-pexy was performed. Post-re-operative course was unsuccessful, bronchopleural fistula remained, so we tried re-closure of the bronchial stump by omentopexy without thoracoplasty or muscle flap plombage. About a half year after 3rd operation, he relapsed into bronchopleural fistula. Then fibrin gluing was performed via a flexible fiberoptic bronchoscope without hospitalization, and the omental flap was fixed completely to the bronchial stump. We believe the omentopexy a useful procedure for treating postoperative bronchopleural fistula which can't make any chest-wall deformation.

This study was performed to determine the advantages and disadvantages of fast fluid attenuated inversion recovery (fast FLAIR) images in diagnosing brain infarction compared with fast spin-echo (fast SE) images. Fast FLAIR and fast SE images were obtained in 32 patients with brain infarction. Infarctions close to the sulci were difficult to differentiate from the real sulci on fast SE images, but were clearly depicted on FLAIR images. Linear foci along with cortex were especially well demonstrated on FLAIR images. On the other hand, foci that showed high signal intensity on fast SE images were sometimes appeared as having low or iso signal intensity on FLAIR images. These foci, suspected of being cystic lesions, were sometimes difficult to identify on fast FLAIR images. For the above reasons, we concluded that fast FLAIR and fast SE each have advantages and disadvantages in the detection of brain infarctions.

We analyzed 11 sites of the rhodopsin gene using polymerase chain reaction (PCR) amplification and restriction endonucleases in 30 unrelated Japanese patients with autosomal dominant retinitis pigmentosa (ADRP). No point mutation was found in any patient. The frequencies of the single nucleotide (nt) substitution at nt 269, nt 5145 and nt 5321 were examined in three groups, 38 unrelated patients with ADRP, 23 patients with autosomal recessive retinitis pigmentosa (ARRP), and 67 normal controls. There was no significant difference in the frequencies of substitution among these three groups. The frequencies of A269G, G5145A, and C5321A were 52%, 36%, and 5%, respectively. These values were different from those of the American population. The polymorphisms, A269G and G5145A, are useful as DNA makers for linkage analysis.

The recent analysis of blood components has revealed that retinochoroidal circulation may be disturbed in patients with abnormalities of blood components. These blood abnormalities include iron deficiency anemia with or without thrombocytosis, dysplasminogenia, von Willebrand's disease, protein S deficiency, protein C deficiency, and abnormal platelet function. The ophthalmoscopic findings in these disorders include retinal vein occlusion, retinal artery occlusion, choroidal circulatory disturbance, and vitreoretinal hemorrhage. The incidence of blood component abnormalities is high in young patients who rarely have systemic hypertension or arterial sclerosis. We review these blood disorders and emphasize the importance of blood analysis in the patients with retinochoroidal circulatory disturbances.

Two cases of ganglion cysts in the lumbar spinal canal: MR findings. Ganglion cysts in the spinal canal are rare. To our knowledge, only 12 cases have been reported. In addition, ganglion cysts depicted by MR are extremely rare. We report the MR findings in two cases of ganglion cysts in the lumbar spinal canal. In both cases, the ganglion cysts were slightly higher in intensity than CSF on T2-weighted images. In addition, a thin band of low intensity was depicted around the ganglion in both cases. This finding may help to diagnose ganglion in the spinal canal. On T1-weighted images, the signal intensity of the ganglion was very similar to that of the intervertebral disc in both cases. In summary, although ganglion mimics disc hernia or sequestrated disc on both T2- and T1-weighted images, the possibility of a ganglion should be considered whenever an extradural mass showing high signal intensity surrounded by a thin band of low intensity is identified on T2-weighted images.

A generalized biochemical deficiency of the mitochondrial matrix enzyme ornithine aminotransferase (OAT) is the inborn error in gyrate atrophy (GA), an autosomal recessive blinding disease of the retina and choroid of the eye. Because mutations in the OAT gene show a high degree of molecular heterogeneity in GA, the authors set out to determine the mutations by rapid and efficient methods.The mutations in the OAT gene were determined by a combination of polymerase chain reaction (PCR) amplification of gene sequences, analysis by denaturing gradient gel electrophoresis (DGGE), and direct DNA sequencing.Eleven different mutations in 21 (95.5%) out of 22 mutant OAT alleles from 11 patients were identified: six missense mutations, three nonsense mutations, one 2 bp-deletion, and one splice acceptor mutation. A silent polymorphism of Asn (AAC)378 to Asn (AAT) was also observed. CONCLUSIONS. The combination of PCR amplification of the gene sequences, DGGE analysis, and direct sequencing is a rapid and efficient method for detection of mutations in GA cases. The diversity of the mutations attests to the enormous genetic heterogeneity in this disease.

A 33-year-old man was operated for the mediastinal schwannoma. During the operation, the 9 th intercostal nerve was avulsed and revealed liquorrhea. Lyodura and fibrin glue was applied for sealing the site of dural defect. But post-operative course was not successful. So, we used the external cerebrospinal fluid drainage system. After this procedure, thoracic fluid from the chest tube was reduced and we could remove the chest tube in the 20th post operative day. This case indicates that in case of thoracotomy, it is difficult to expect easy closure of cerebrospinal fluid fistula under conservative therapy. Therefore it was considered that specific repair during the operation and spinal drainage in the post-operative early phase should be performed.

We evaluated the clinical efficacy of an embolizing emulsion produced by mixing lipiodol and Gd-DTPA, in transcatheter arterial chemoembolization (TAE). Subjects were 10 patients with hepatocellular carcinoma (HCC). The emulsion used was produced by mixing 3 ml of lipiodol and anticancer agents (mitomycin-C 10 mg and adriamycin 20 mg) dissolved in Gd-DTPA. This emulsion was infused into the proper hepatic artery. Subsequent embolization by Gelfoam was performed in eight patients. MRI and CT examinations were performed soon after TAE (1 or 2 days after) and two weeks afterwards. The position of lipiodol accumulation dipicted on CT at two weeks after TAE did not differ from the site of change in signal intensity induced by Gd-DTPA on MR images soon after TAE in any case. In almost all cases, the washout of Gd-DTPA occurred earlier than that of lipiodol. It might be suggested that Gd-DTPA, which is water-soluble, shows in vivo dynamics similar to anticancer agents rather than to lipiodol, which is oil-soluble. Since the normal tissues showed no definite signal changes, we could easily detect the site of tumors by using the emulsion containing Gd-DTPA even on MR studies immediately after TAE. In addition, the deposits of Gd-DTPA depicted on MR images created fewer artifacts than the lipiodol deposits on CT.

The purpose of this study was to assess the efficacy of MR imaging in predicting the quality of ascites and pleural effusion. MR examinations of 20 patients with different benign or malignant diseases accompanied with ascites or pleural effusion were retrospectively studied. Results were compared with histopathological findings. On T1- and T2-weighted images, the MR intensity of the effusion depended mainly on the concentration of protein, whereas on gradient echo images, it depended mainly on the concentration of blood. MR examination was useful in non-invasively differentiating exudative or hemorrhagic effusion from serous effusion. Knowledge or inference of the quality of effusion can direct MR interpretation and may improve diagnostic accuracy.

1-methyladenosine is one of the modified nucleosides, the levels of which are elevated in urine of patients with malignant tumors. We report herein immunohistological expression of 1-methyl-adenosine in tumor cells and retinas. Eight retinoblastomas, 4 malignant melanomas, two metastatic choroidal tumors, 3 retinal dysplasias, one intraocular hemorrhage and 5 normal eye retinas in human were examined. In addition, 8 experimental rabbit choroidal tumor XV2s, and 5 normal rabbit retinas were examined. 1-Methyladenosine was expressed in almost all malignant tumors and retinas with these tumors, while there was little expression in benign tumor cells, retinas with benign tumor and retinas in normal eyes. Results in rabbits were almost the same as in humans. Examination of expression of 1-methyladenosine is expected to be useful for the histological diagnosis of intraocular tumors.

A nationwide, multicenter study of typical retinitis pigmentosa was carried out in collaboration with 13 university hospitals throughout Japan. A total of 253 patients, 122 males and 131 females, with a wide range of ages (mean 48 years), were registered during a two-month period in 1989. Determination of inheritance pattern revealed 30.2% autosomal recessive cases, 15.4% autosomal dominant, 0.5% X-linked, and 48.9% simplex, indicating a relative decrease in autosomal recessive cases and a relative increase in simplex cases in recent decades. The age at onset, initial symptom, and visual functions including visual acuity, visual field and electroretinogram showed a marked interindividual variability, but statistical analysis demonstrated that visual defects progressed with increasing age and disease duration. A correlation between the phenotypic variation and the genetic type was observed. This survey of retinitis pigmentosa in Japan provides information for counseling and rehabilitation of patients and encourages basic and clinical research of this genetic disease.

A 52-year-old case of chronic external ophthalmoplegia accompanied by Oguchi's disease was reported. The patient noticed night blindness and deafness since childhood. Later he developed ocular movement limitation to all directions by the age of 40. He had 20/20 corrected visual acuity and normal anterior segment, as well as normal color vision. Goldmann's perimetry showed generalized constriction of the peripheral field. Golden tapetal reflex without dark adaptation disappeared after 4 hours of dark adaptation, i.e. Mizuo-Nakamura's phenomenon was recognized. Recovery of diminished a and b wave electroretinogram to the subnormal range was also observed after 4 hours of dark adaptation. Rod-cone interaction test revealed a monophasic adaptation, and no suppression to the cones from the rods was observed. This finding was also compatible with Oguchi's disease. ECG revealed incomplete atrio-ventricular as well as right bundle branch blocks. Neurological examination findings were entirely normal other than slight enhancement of deep tendon reflexes in the lower extremities and mixed typed difficulty of hearing. Muscle biopsy of the right medial rectus muscle revealed ragged-red fiber, suggesting mitochondrial abnormalities. Never the less the quadriceps femoris muscle biopsy specimen showed normal histological findings. This is the first case report of progressive external ophthalmoplegia associated with Oguchi's disease. Mitochondrial abnormality was confirmed only in the external ocular muscle. This case may be a variant of Kearns-Sayre syndrome.

A generalized deficiency of the mitochondrial matrix enzyme ornithine aminotransferase (OAT) is the inborn error in gyrate atrophy (GA), an autosomal recessive degenerative disease of the retina and choroid of the eye. Mutations in the OAT gene show a high degree of molecular heterogeneity in GA, reflecting the genetic heterogeneity in this disease. Using the combined techniques of PCR, denaturing gradient gel electrophoresis, and direct sequencing, we have identified three nonsense-codon mutations and one nonsense codon-generating mutation of the OAT gene in GA pedigrees. Three of them are single-base substitutions, and one is a 2-bp deletion resulting in a reading frameshift. A nonsense codon created at position 79 (TGA) by a frameshift and nonsense mutations at codons 209 (TAT----TAA) and 299 (TAC----TAG) result in abnormally low levels of OAT mRNA in the patient's skin fibroblasts. A nonsense mutation at codon 426 (CGA----TGA) in the last exon, however, has little effect on the mRNA level. Thus, the mRNA level can be reduced by nonsense-codon mutations, but the position of the mutation may be important, with earlier premature-translation termination having a greater effect than a later mutation.

We performed a nationwide, multicenter study of typical retinitis pigmentosa with reference to the inheritance patterns of the disease. A total of 253 probands were registered during two months of 1989, and an analysis of the parental consanguinity of 182 probands with the method of inbreeding coefficient enabled us to estimate the relative prevalence of genetic types; autosomal recessive trait: 47.6%; autosomal dominant trait: 17.3%; sporadic cases: 34.6%. A comparison of the results with previous studies has indicated a decrease in the prevalence of the autosomal recessive trait and an increase in the sporadic cases, as would be expected from the decrease in consanguineous marriages and offsprings in the past few decades in Japan. X-linked retinitis pigmentosa was rarely identified, but precise evaluation of its frequency needs further investigation.

The author analyzed codon 347 of the rhodopsin gene using PCR (polymerase chain reaction) amplification and restriction enzymes in 19 unrelated Japanese families including 28 patients with autosomal dominant retinitis pigmentosa (ADRP). An allele of codon 347 mutation was found in a family (father and daughter). Sequence analysis shows that the mutation is from CCG to CTG. This mutation appears to be the cause of one form of ADRP, since it was also found in Japanese cases of ADRP which have a different racial background from families reported by Dryja et al.

A 19-year-old Japanese woman developed diabetes mellitus, diabetes insipidus and optic atrophy. Other abnormal ocular findings included color blindness, elevated dark adaptation threshold and constriction of visual fields. Diabetic retinopathy, which is considered to be rare in this syndrome, also was found in the fundi of this patient. During the nine-year follow-up period, diabetic retinopathy deteriorated despite treatment by photocoagulation and vitrectomy, suggesting the importance of ophthalmological examinations in patients with DIDMOAD syndrome.

Point mutations within the rhodopsin gene have been found recently in some patients with autosomal dominant retinitis pigmentosa (ADRP). Currently, four types of point mutations at codons 23, 58 and 347 have been identified. The purposes of this study were to establish simple methods for screening patients with retinitis pigmentosa (RP) to detect these point mutations, and to apply these methods to determine if these mutations are found in Japanese patients with RP. Utilizing the polymerase chain reaction (PCR), a one-step method was developed to detect point mutations at codon 23. This method was then applied to screen genomic DNAs from 30 patients with various types of RP, including ADRP, autosomal recessive RP, simplex RP, Leber's congenital amaurosis or Usher's syndrome. Subsequently, point mutations at codons 58 and 347 were detected by restriction enzyme digestion (Dde I or Msp I) of exons 1 and 5 amplified by PCR. To date, no mutations have been found in codons 23 and 58 in Japanese patients. By using the allele-specific PCR, however, two patients from one pedigree of ADRP were confirmed to have a C-to-T transition at the second nucleotide of codon 347, which results in the substitution of leucine for proline. Our findings indicated the availability of this simple method for detecting these point mutations.

Two siblings with Usher syndrome had optic disc mulberry tumors that were photographically documented over a 5-year period. During this period, growth of these tumors was demonstrated. These lesions were reported histologically to be drusen. The existence of presumed optic disc drusen in siblings with Usher syndrome may be related to similar pathogenetic mechanisms rather than genetic implications.

The development of NMR technique is surprisingly progressive also at present. In this article, firstly we want to report our clinical experiments about mainly congenital and development anomalies, vascular disorders, dysmyelinating or demyelinating disorders, and neurodegenerative disorders. Secondly we report about the new techniques of MR imaging and MR spectroscopy those are applicable in clinical studies at present and in the near future. Fast scan imaging technique using gradient echo acquisition enables us to perform CSF cine-mode study, MR angiography, and three-dimensional imaging. Detectability of intracranial calcification is higher in the fast scan images than in the conventional spin-echo images. MR imaging and spectroscopy using other than proton are not performed screening at present. However, in vivo MR imaging of sodium, fluorine, and phosphorus can be used, and their clinical utilities are now evaluated. In vivo MR spectroscopy of proton is also used in some institutes. Its clinical utility is already reported and this application in clinical studies is strongly expected.

Unilateral topical anesthesia affected the secretion of human tear fluid and its concentrations of lysozyme and lysosomal enzymes. Results of a Schirmer's test with 0.4% oxybuprocaine showed that topical anesthesia reduced the mean test value by 47% and the secretion of protein, lysozyme, acid phosphatase, and N-acetyl-beta-D-glucosaminidase by 30%, 45%, 31%, and 33%, respectively. These results indicated that the paper strip induced reflex secretion from only the stimulated eye. The enzyme activity of lysozyme per fluid volume in tears from anesthetized eyes was as high as that from eyes without anesthesia, while acid phosphatase and N-acetyl-beta-D-glucosaminidase had higher activities. The amount of protein in the tear fluid was higher in anesthetized eyes than in unanesthetized eyes. Enzyme activity of lysozyme per protein of the tear fluid in the anesthetized eyes was lower than in the eyes without anesthesia, while acid phosphatase and N-acetyl-beta-D-glucosaminidase had higher activities per protein in the eyes with anesthesia. These findings disclosed that the concentrations of total protein, acid phosphatase, and N-acetyl-beta-D-glucosaminidase increased, while lysozyme value was constant when the tear secretion decreased.

A 19-year-old Japanese woman developed diabetes mellitus, diabetes insipidus and optic atrophy. Other abnormal ocular findings included color blindness, elevated dark adaptation threshold, loss of oscillatory potentials after a single white flash electroretinogram (ERG), reduced cone response in photopic ERG, and reduced pupillary response to light and convergence. Diabetic retinopathy, which has been thought to be very rare in this syndrome, also was found in the fundi of this patient.

A Japanese infant was found to have abdominal distension at the age of 4 weeks. A diagnosis of galactosemia was made at 8 weeks of age. Dietary management completely reversed the hepatosplenomegaly and ceased the progression of lens opacities. Mental retardation was also noted at a later age. We believe this is the first reported case of galactose cataract in Japan confirmed enzymatically.

Recent rapid development of the MRI system has enabled us to diagnose precisely the disorders of the central nervous system (CNS) also in neonates and young children. Because of a long studying time, the use of oral chloral hydrate or other alternative drugs for sedation, such as secobarbital and meperidine, is necessary for young children under 6 years of age. The advantages of MRI are the optional plane imaging, a high contrast resolution, and the artifact-free imaging from the surrounding bones and air. MRI can detect myelination disorders and the lesions in the posterior fossa, the middle fossa, and the spinal canal. These abnormalities are difficult to depict with conventional X-ray CT scanning. MRI is useful also for the survey of various congenital anomalies of the brain and the spine. Furthermore, it is sensitive enough to detect the CNS blood flow and the cerebrospinal fluid (CSF) flow. Arteriovenous malformation, moyamoya disease, and sinus thrombosis are diagnosed by MRI without using contrast media, CSF flow void phenomena in the aqueduct and the Monro's foramina are indexes of the CSF pathway obstruction and of normal pressure hydrocephalus.