Search PubMedSearch

Biomedical subjects

R Adachi

Publications and source records attributed to R Adachi.

At least 19 recordsLinked to original sources

Comparison of chorionic villus sampling and amniocentesis: current status of prenatal diagnosis in Japan.

Data were tabulated and compared for cases involving prenatal diagnostic procedures performed in the 8 years between January 1985 and December 1992. Of a total of 2781 pregnancies, 2546 cases (91.5 per cent) were diagnosed by amniocentesis, and 235 (8.5 per cent) by chorionic villus sampling (CVS). These findings reflect the fact that amniocentesis has taken deep root as the prenatal diagnostic procedure widely acknowledged by society, whereas even the existence of CVS has yet to be generally recognized. Analysis of our clinical and laboratory results and complication rates, however, suggests that CVS is a safe and accurate alternative to amniocentesis which should and can be positively presented to all patients who are candidates for prenatal diagnosis.

Amniocentesis

Molecular analysis of five independent Japanese mutant genes responsible for hypoxanthine guanine phosphoribosyltransferase (HPRT) deficiency.

Five independent mutations in the hypoxanthine guanine phosphoribosyltransferase (HPRT) gene were identified in a partially HPRT deficient patient with gout and in four Lesch-Nyhan patients. Using the polymerase chain reaction (PCR) technique coupled with direct sequencing, the nucleotide sequences of the entire HPRT coding region amplified from the cDNA and also of each exon amplified form the genomic DNA were analyzed. Three independent point mutations in the coding region were detected in the partially HPRT deficient patient (Case 1) and in two Lesch-Nyhan patients (Case 2 and 3), resulting in single amino acid substitutions. The family study of Case 3, utilizing a PvuII restriction site created in the mutant gene, indicated that the mother was a heterozygote, and a sister and a fetal brother had inherited the normal HPRT gene from the mother. In two other mutants causing Lesch-Nyhan syndrome, a portion of the HPRT gene was deleted, and RNA splicing was missing in both mutants. A 4-bp deletion at the 5' end of exon 4 resulted in formation of three different types of abnormal mRNA (Case 4). The other mutant (Case 5) produced abnormal mRNA including 26 bp of intron 8 instead of the deleted 58 bp at the 5' end of exon 9, because of a 74-bp deletion from intron 8 to exon 9.

Amino Acid Sequence

Detection of selenium in generalized and localized argyria: report of four cases with X-ray microanalysis.

Electron microscopic and X-ray microanalytic studies were performed on four cases of argyria; one generalized and three localized. Deposition of electron dense granules was predominantly found on elastic fibers and around basal laminas of secretory portions of eccrine glands, although the amount of deposition was much less in the case of generalized argyria. In all four cases, X-ray microanalysis revealed that the depositions consisted mainly of silver, selenium, and sulfur. The importance of selenium in the detoxification of heavy metals was discussed.

Acupuncture Therapy

[Mathematical simulation of intracranial condition--Part 1. Linear model stimulation].

We developed a linear mathematical model of the intracranial vessels, which reflects changes of the pulse wave (pulse pressure) of intracranial pressure after ligation of the internal jugular vein. The model composed of eight major variables: 1. resistance of arteries, 2. resistance of small arteries and capillary vessels, 3. resistance of veins, 4. resistance of internal jugular and vertebral veins, 5. compliance of arteries, 6. compliance of small arteries and capillary vessels, 7. compliance of veins and 8. intracranial compliance. All variables are presumed to have linear elements and replaced with electrical elements. The model of neck dissection is expressed as the change of resistance of the internal jugular and vertebral veins. Intracranial condition is expressed as the pulse wave (pulse pressure) of intracranial pressure and driving pressure. After unilateral ligation of the internal jugular vein, the pulse wave of intracranial pressure increased 24% and, after bilateral ligation of the internal jugular vein, it increased 55%. After unilateral ligation of the internal jugular vein, the pulse wave of intracranial pressure increased 27%, and, after bilateral ligation, it increased 79%. When intracranial compliance is normal, the respective ratios of pulse wave of intracranial pressure and driving pressure to cross-sectional area decreased, whereas those after increase of intracranial compliance increased.

Cerebrovascular Circulation

[Assessment of myocardial viability with 201Tl myocardial SPECT 24 hours after injection].

Recently many investigators reported that conventional stress-redistribution myocardial scintigraphy with 201Tl underestimated the presence of ischemic but viable myocardium. We studied the usefulness of 24 hour 201Tl myocardial single photon emission computed tomography (SPECT) to assess myocardial viability and investigated the factors affect to the quality of 24 hour SPECT images. Study patients were consisted with 70 patients with old myocardial infarction (OMI), 72 patients with angina pectoris without OMI (AP) and 43 patients with angiographically proven normal coronary arteries. To obtain SPECT images, 10 minute and 4 hour imagings were sampled 30 seconds per projection. Twenty-four hour imaging was sampled 60 seconds per projection. Twenty-four hour images were visually interpreted as good, moderate and poor quality. Then study patients were divided into 2 groups, group A with good 24 hour images and group B with moderate or poor 24 hour images. One hundred and fifty-eight patients (85.4%) of study patients had 24 hour SPECT images on a good quality. Only 4 patients (2.2%) had poor quality SPECT. All of these 4 patients had broad myocardial infarction. In patients with OMI 61 patients (87.1%), in AP 63 patients (87.5%) and in normal 35 patients (81.4%) had a good 24 hour SPECT. Total sampling counts and myocardial ROI counts were significantly higher in group A than in group B. Body weight was significantly higher and there were more male patients in group B than in group A. Late redistribution was seen in 20 patients (28.5%) with OMI and in 11 patients (15.3%) with AP.(ABSTRACT TRUNCATED AT 250 WORDS)

Adult

Fetal cells in the maternal circulation: detection of Y-sequence by gene amplification.

Detection of a Y-specific sequence in the maternal circulation has clinical importance because it would be useful in determining fetal gender in mothers with severe X-linked disorders. The method described in this paper has the advantage of requiring only small amounts of maternal blood. Numerous attempts have been made to identify XY cells in the blood of mothers bearing male fetuses; however, the results have been controversial. In this study, a member of the DYZ1 family and the XY homologous region of the amelogenin gene were used as targets for polymerase chain reaction detection of the Y chromosome. The subjects in this study were a group of 100 pregnant women at 17-20 weeks' gestation and 30 puerperal women who had given birth 2-5 days previously. All of the former underwent amniocentesis, with venous blood samples drawn before the procedure. Forty-five fetuses were confirmed as male by karyotyping amniocytes, and 30 of these were positive for the Y sequence in the DYZ1 region (sensitivity 66.7%). However, ten of the 55 cases diagnosed as female were also positive, giving a specificity of only 81.8%. Thus, the positive and negative predictive values were each 75%. In the amelogenin gene study, a positive Y signal was not detected in any of the cases examined. This study demonstrates the usefulness of polymerase chain reaction detection of Y-specific sequences in the maternal circulation. However, further investigation is necessary to increase the reliability for clinical application, because the method does produce false-positive results.

Base Sequence

Prenatal diagnosis of rubella infection by fetal blood sampling.

Prenatal diagnosis of rubella infection was attempted at 21 to 23 weeks of gestation by measuring rubella-specific IgM by ELISA in blood obtained from 16 fetuses whose mothers had been confirmed rubella infection during pregnancy. Specific IgM was detected in 9 fetuses. In 1 case, the time of the appearance of the rash was 20 weeks of gestation and this pregnancy went to term resulting in a healthy baby without clinical evidence of congenital rubella. The remaining 8 patients had their pregnancies terminated, and fetal infection was confirmed by blood tests after the abortion. No specific IgM was detected in the 7 other fetuses. However, in 2 IgM fetal blood negative cases whose mothers had had the rash at 17 and 20 weeks of gestation, the neonates showed positive IgM findings, but were apparently healthy. The reasons for the false-negative findings are discussed.

Adult

Changes in surface charge density of lecithin liposomes by lipid peroxidation. A fluorescence study with 8-anilino-1-naphthalenesulfonate.

Treatment of lecithin liposomes with 100 microM ascorbic acid and 10 microM ferrous ion resulted in the formation of fluorescent products exhibiting an emission maximum at 430 nm and a decrease in the fluorescence intensity of 8-anilino-1-naphthalenesulfonate (ANS) bound to the liposomes without change in the emission maximum. The degree of ascorbic acid/Fe(2+)-induced decrease in the ANS fluorescence was dependent on the extent of fluorescent product formation. The results of kinetic studies on ANS-binding to the liposomes showed that treatment of the liposomes with ascorbic acid/Fe2+ causes an increase of the apparent dissociation constant (Kd) of ANS-liposome complex. This indicates that lipid peroxidation of the liposomes by treatment with ascorbic acid/Fe2+ decreases the binding affinity of ANS to the liposomes. In addition, it was also found that there is a good correlation between degrees of the Kd value and the formation of fluorescent products. The fluorescence properties, i.e. emission maximum and response of the fluorescence intensity for borohydride reduction, of the products formed by lipid peroxidation of the liposomes were similar to those derived from modification of the liposomes with monofunctional aldehydes such as acetaldehyde and heptaldehyde. From these results, it is suggested that the decrease of ANS-binding affinity to the liposomes by treatment with ascorbic acid/Fe2+ may be due to changes in the surface charge density of the liposomes relating to the formation of fluorescent products.

Anilino Naphthalenesulfonates

Prenatal diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency with DNA analysis.

Six families at risk of having a child with 21-hydroxylase deficiency (21-OHD) requested prenatal diagnosis by DNA analysis. This was performed by Southern hybridization mainly using the endonuclease-probe combination of TaqI-21-hydroxylase (21-OHase) complementary DNA (cDNA). In three families, the probands were found to have deletion of a 3.7 kb fragment corresponding to the functional 21-OHase gene (21-OHase B gene). In the three fetuses tested, genomic DNA extracted from the chorionic villi had the 3.7 kb fragment and all were judged to be unaffected. In the other three families, DNA analysis was uninformative in the detection of 21-OHD and was also unable to determine carrier status with 21-OHase cDNA. In one of these three families, however, linkage analysis detected restriction fragment length polymorphism (RFLP) with cDNA for the fourth component of the complement (C4).

Adrenal Hyperplasia, Congenital

A fetal case with midgut volvulus.

A fetus with midgut volvulus is described. The mother had developed polyhydramnios, and the fetus was found by sonography to have dilated fluid-filled structures compressing the chest in the upper abdomen. Percutaneous aspiration of the upper abdominal mass was performed to identify the content and know whether decompressing the chest would be beneficial. The removal of meconium-stained fluid accomplished an improvement of the fetal biophysical profile. The infant was delivered by low transverse cesarean section, and survived with immediate removal of the fluid in the abdominal mass and ventilatory therapy.

Adult

[Report of a case which survived rupture in a hepatic artery mycotic aneurysm after aortic valve replacement].

A case in which rupture of a hepatic artery aneurysm occurred 4 months after aortic valve replacement because of aortic regurgitation due to infective endocarditis (IE) is reported. The patient was a 41-year-old male who underwent aortic valve replacement and closure of an abscess cavity of the Valsalva's sinus because of aortic regurgitation and an abscess of the Valsalva's sinus complicated with active IE. His postoperative course was good with no fever. Four months postoperatively, rupture of an aneurysm of the left intrahepatic artery occurred suddenly, and the patient's life was saved by resection of the lateral segment of the left lobe of the liver. Histologically, the wall structure of the aneurysm was not preserved, infiltration of neutrophils was seen in part of the wall, and a mycotic aneurysm of the left hepatic artery within the liver cause by IE was diagnosed. In Japan, only four cases, including the present one, of mycotic aneurysm of the hepatic artery have been reported in the literature examined, and this was the first case in which the patient's life as saved after a rupture. It is essential when observing the course of IE patients to bear in mind at all times that such a complication might occur.

Adult

[Tricuspid annuloplasty and right ventricular function in mitral valve disease].

From 1985 to 1987, we examined relationship between the lesion of tricuspid valve and right ventricular function in 31 patients (male: 9, female: 22) with mitral valve disease. The median age at operation was 52 years (range 37-69 years). Group I consisted of 17 patients (MS: 10, MSR: 5, MR: 2) accompanied with tricuspid regurgitation (TR) and Group II 14 patients (MS: 12, MSR: 2) without TR. In all cases of Group I tricuspid annuloplasty (TAP) were performed correctly. De Vega methods were done in 12 cases and Carpentier rings were used in 5 cases. Cardiac catheterization was done before and after operation. And right ventricular volume was measured by right ventricular angiography. In both groups pulmonary capillary wedge pressure, pulmonary artery pressure and cardiac index were improved postoperatively. Pulmonary artery resistance (PAR) and total pulmonary resistance (TPR) in Group I were significantly higher before operation but there were no difference between two groups postoperatively. Right ventricular end-diastolic volume index (RVEDVI) and right ventricular end-systolic volume index (RVESVI) in Group I were significantly improved postoperatively, but in Group II these were within normal range both pre- and postoperatively. Preoperative PAR was correlated inversely with postoperative right ventricular ejection fraction (RVEF). It means that patients with severe pulmonary vascular lesion had postoperative lower right ventricular function. In both groups, RVESVI was in inverse correlation with RVEF pre- and postoperatively. In both groups, there was an inverse correlation between the per cent change of RVESVI and that of RVEF. This means that RVESVI influenced right ventricular pump function.

Adult

[Changes in the intracranial pressure dynamics with head-down tilt in cats].

To determine changes in the intracranial pressure dynamics under the condition of head-down tilt, the pressure-volume relationship in the cranial cavity as well as changes in intracranial pressure were studied experimentally in 31 cats. The animals were divided into three groups; with the horizontal, with the head-down and one with the head-up position. In each group the pressure volume index (PVI) and cranial cavity compliance (C) were examined under controlled respiration. The following results were obtained. (1) The values of PVI and C were significantly greater in the head-down tilt group as compared to those in the other groups, in spite of the increase in intracranial pressure level. (2) In the situations of craniospinal blockade by epidural ligation of spinal cord at C2 level, the PVI and C were also higher in the head-down tilt group than in the horizontal group. These results indicate that the pressure buffering capacity is increased with head-down tilt with respect to intracranial volume loading. It appears that the buffering mechanism does not depend on movement of the cerebrospinal fluid, but on the increased cerebral venous vascular bed with the communication between extracranium and intracranium.

Animals

[Evaluation of the thromboexclusion technique for thoracic aortic aneurysms].

From 1981 to 1987 most of DeBakey III type dissecting aneurysms and a part of descending aortic aneurysms were treated by thromboexclusion technique. The effects of the operation by thromboexclusion technique on the patients were compared with those of the operation by temporary bypass technique. Blood loss during an operation was smaller and blood pressure during an operation was more stable in the thromboexclusion technique group, although the difference was not statistically significant. Furthermore, no paraplegia was observed in the thromboexclusion technique group. The respiratory support period was longer and the number of patients with postoperative myocardial injury was greater in the thromboexclusion technique group, although the difference was not statistically significant. Ten patients treated by thromboexclusion techniques were examined by computed tomography. In 7 out of 10 patients (70%), thrombosis occurred in the false lumen of dissecting aneurysm or in the aneurysmal lumen of descending aortic aneurysm. When only the patients without the leakage of blood into the aneurysm through the permanent aortic clamp were examined, thrombosis was observed in 100% of them. Even though the blood flow was reversed, thromboexclusion technique did not have a bad effect on renal function in the long-term. Postoperatively, however, progressive hypertrophy of the left ventricle was recognized, and furthermore, an injury to the aortic wall caused by permanent aortic clamp was observed at an autopsy. This suggests that further long-term follow-up of patients treated by thromboexclusion technique is necessary.

Aged

[A case of ruptured aneurysm of the sinus of Valsalva with bacterial endocarditis].

A 21-year-old male with ruptured aneurysm of sinus of Valsalva caused by bacterial endocarditis is presented. The patient complained of palpitation and a attack of fever. Continuous murmur was heard with a thrill at the third intercostal space of the left sternal border. On plain chest x-ray film pulmonary congestion and increase in pulmonary flow were observed. Cardiac catheterization showed step up of oxygen contents at the level of right ventricle and left to right shunt of 36.5%. Aortography demonstrated the aneurysm of the sinus of Valsalva ruptured to right ventricle. The operation was performed by right ventricular approach. Aneurysmal sac was resected and its orifice was closed with mattress sutures. Bacteriological examination at the time of operation revealed Staphylococcus aureus. Postoperative course was uneventful.

Adult

[Carcinoma of Papilla Vater with celiac axis stenosis--application of percutaneous transluminal angioplasty].

In a case of carcinoma of Papilla of Vater with angiographically proved celiac axis stenosis, PTA (Percutaneous transluminal angioplasty) was performed to restore sufficient blood flow, followed by standard pancreaticoduodenectomy. This would be the first case to have PTA applied to the cancer-bearing celiac axis stenosis. The patient was 58 year old female, presented with acute abdominal pain and vomiting. DIC revealing protruding defect in the choledochus and hypotonic duodenography showed elevated tumor at Papilla of Vater. Aortography revealed 75% circumferential stenosis at the celiac artery and superior mesenteric angiography visualized all the branches of the celiac axis via dilated pancreaticoduodenal arcades. PTA with Grüntzig Dilaca (4.3Fr), 5 atm for 60 seconds serially every two min for 4 times was performed with the immediate relief of the stenosis down to 25%. Intraoperatively 70-80ml/sec flow confirmed, pancreaticoduodenectomy was done without sacrificing curability. PTA would be superior strategy to restore sufficient blood flow in cases with GI anastomoses, compared with other bypass or reimplantation surgery.

Ampulla of Vater