Biomedical subjects

N Yoshimura

Publications and source records attributed to N Yoshimura.

At least 73 records · Page 4Linked to original sources

PubMed2001

The role of bladder afferent pathways in bladder hyperactivity induced by the intravesical administration of nerve growth factor.

PURPOSE: Interstitial cystitis, a chronic disease of the bladder, is characterized by urinary frequency, urgency and suprapubic pain. Nerve growth factor is a substance that may sensitize afferent nerves and induce bladder hyperactivity. It is often increased in the urine of patients with interstitial cystitis. We evaluated the role of Adelta and C fiber afferents in the type of bladder hyperactivity induced by the intravesical administration of nerve growth factor. MATERIALS AND METHODS: A total of 22 Wistar and 8 Sprague-Dawley adult female rats were anesthetized with 1.2 gm/kg urethane given subcutaneously. A transurethral catheter was inserted into the bladder. Some animals were pretreated with 125 mg/kg capsaicin injected subcutaneously 4 days before nerve growth factor administration. Cystometry was performed by slowly filling the bladder at a rate of 0.04 ml per minute for 15 minutes with a volume of up to 0.6 ml. Parameters measured included volume threshold and pressure threshold for inducing the micturition reflex, compliance, bladder contraction amplitude, number of contractions and the inter-contraction interval. Nerve growth factor (0.5 ml of 20 microg/ml in 10% dimethyl sulfoxide) or a vehicle solution (0.5 ml of 10% dimethyl sulfoxide) was infused into the bladder through a transurethral catheter and retained for 1 hour. RESULTS: In Wistar rats nerve growth factor increased the mean number of contractions by 111% versus controls (5.7 versus 2.7, p <0.05), and decreased the mean volume threshold by 41% (0.244 versus 0.412 ml, p <0.05). This effect of nerve growth factor was not detected in Sprague-Dawley rats. Capsaicin pretreatment increased the volume threshold by 59% but did not change nerve growth factor induced bladder hyperactivity. CONCLUSIONS: The intravesical application of nerve growth factor acutely induced bladder hyperactivity in Wistar but not in Sprague-Dawley rats. Because the C fiber afferent neurotoxin capsaicin did not change the effect of nerve growth factor, we believe that Adelta afferent neurons have a major role in nerve growth factor induced bladder hyperactivity.

Administration, Intravesical↗

PubMed2001

Botulinum toxin urethral sphincter injection to restore bladder emptying in men and women with voiding dysfunction.

PURPOSE: Botulinum toxin injection into the external urinary sphincter in spinal cord injured men with detrusor-sphincter dyssynergia has been reported. We expand the clinical use of botulinum toxin for a variety of bladder outlet obstructions and to decrease outlet resistance in patients with acontractile detrusor but who wish to void by the Valsalva maneuver. MATERIALS AND METHODS: Prospective treatment was performed for voiding dysfunction in 8 men and 13 women 34 to 74 years old. The reasons for voiding dysfunction included neurogenic detrusor-sphincter dyssynergia in 12 cases, pelvic floor spasticity in 8 and acontractile detrusor in 1 patient with multiple sclerosis who wished to void by the Valsalva maneuver. Using a rigid cystoscope and a collagen injection needle, a total of 80 to 100 units of botulinum A toxin (Botox) were injected into the external sphincter at the 3, 6, 9 and 12 o'clock positions. RESULTS: Preoperatively 19 of 21 patients were on indwelling or intermittent catheterization. After botulinum A injection all but 1 patient were able to void without catheterization. No acute complications, such as general paralysis or respiratory depression, occurred and none of the patients had dribbling or stress urinary incontinence. Postoperative post-void residual decreased by 71% and voiding pressures decreased on average 38%. Of the 21 patients 14 (67%) reported significant subjective improvement in voiding. Followup ranges from 3 to 16 months, with a maximum of 3 botulinum A injections in some patients. CONCLUSIONS: Urethral sphincter botulinum injection should be considered for complex voiding dysfunction. Encouraging improvement without complications were seen in most of our patients. We have expanded the use of botulinum toxin to treat pelvic floor spasticity and also women.

Adult↗

PubMed2001

Herpes simplex virus mediated nerve growth factor expression in bladder and afferent neurons: potential treatment for diabetic bladder dysfunction.

PURPOSE: Diabetic cystopathy resulting from sensory neuropathy may potentially be treated by direct gene therapy. It has been suggested that nerve growth factor (NGF) has an ameliorative effect in preventing the death in diabetes of afferent dorsal root ganglion neurons, which control bladder function. We investigated NGF gene transfer to the bladder and bladder afferent pathways for treating diabetic cystopathy. We used replication competent and replication defective herpes simplex virus type 1 (HSV-1) vectors that express a functionally active form of the beta-subunit of mouse NGF (beta-NGF) to examine the level and duration of therapeutic gene expression after administration of the vectors. MATERIALS AND METHODS: NGF expression during acute (3 days) and latent (21 days) infections was assessed by enzyme-linked immunosorbent assay (ELISA) and immunohistochemical testing after the injection of 1 x 106 to 1 x 108 pfu HSV-NGF expression vectors into the bladder wall of adult rats. RESULTS: HSV vectors with the strong human cytomegalovirus immediate early promoter used to drive beta-NGF gene expression exhibited increased NGF 3 days after infection in the bladder and L6 to S1 dorsal root ganglia, where bladder afferent neurons are located. ELISA analysis revealed that NGF in the bladder tissue and dorsal root ganglia was increased 7 to 9 and 2 to 4-fold, respectively, over the control vector. Increased NGF expression in L6 to S1 dorsal root ganglia neurons was also detected by immunohistochemical staining with antiNGF antibodies. Extended NGF expression was detected by ELISA 21 days after injection. Replication defective vectors containing HSV-1 latency promoter (LAP-2) driving NGF expressed NGF in the bladder and dorsal root ganglia 21 days after bladder injection. ELISA analysis confirmed an approximate 2 to 3-fold increase of NGF expression in the bladder and L6 to S1 dorsal root ganglia. CONCLUSIONS: The NGF gene may be transferred and expressed in the bladder and bladder afferent pathways using HSV vectors. To our knowledge our study represents the first demonstration of the effectiveness of gene therapy for altering neurotrophic expression in visceral sensory neurons. This technique of gene transfer may be useful for treating certain types of neurogenic bladder dysfunction, such as diabetic cystopathy, in which decreased NGF transport may be a causative factor.

Animals↗

PubMed2001

[Comparison between the anterior chamber configuration in the supine position and that in the prone position in patients with narrow angle].

PURPOSE: To determine whether the anterior chamber configuration of patients with narrow angle is changed in the prone position. PATIENTS AND METHODS: The study included 16 eyes of 16 patients whose anterior chamber angle was classified as Shaffer 2 or narrower. The prone position test(PPT) and ultrasound biomicroscopy (UBM) were performed on every subject. In the UBM examination, the following parameters were measured both in the supine position and in the prone position: the angle-opening distance at 250 microns from scleral spur(AOD 250), the angle-opening distance at 500 microns from scleral spur(AOD 500), the trabecular-iris angle(TIA), and the anterior chamber depth at the center of the cornea(anterior chamber depth, ACD). RESULTS: While the intraocular pressure was higher after PPT than before the test, every subject was evaluated as negative for PPT. Mean value of every parameter examined was lower in the prone position than in the supine position(AOD 250: 114 microns, vs. 128 microns, AOD 500: 121 microns vs. 144 microns, TIA: 12.1 degrees vs. 15.5 degrees, ACD: 1966 microns vs. 2002 microns), and the change in ACD was statistically significant (p = 0.013). CONCLUSIONS: The anterior chamber configuration of patients with narrow angle is changed in prone position. Such a change can occur in patients classified as negative for PPT.

Aged↗

PubMed2001

[Reconstruction of the pulmonary outflow tract without external conduit].

Between October 1987 and December 2000, 50 patients underwent reconstruction of the pulmonary outflow tract without external conduit. The primary malformation was tetralogy of Fallot with pulmonary atresia in 37, double outlet of right ventricle in 4, corrected transposition of the great arteries in 4, transposition of the great arteries with ventricular septal defect and pulmonary stenosis in 4, and double outlet of left ventricle in 2. Mean age at operation was 7.2 years, and mean body weight was 18.3 kg. To reconstruct posterior wall of the pulmonary outflow tract, interposition of autologous pericardium was performed in 24, direct anastomosis between pulmonary trunk and ventriculotomy in 13, longitudinal incision from ventriculotomy through pulmonary trunk in 12, and interposition of left atrial appendage in 1. Anterior wall was reconstructed with monocusp valved outflow patch (MVOP). There was one hospital death and no late death. At 10 years, the freedom from reoperation for pulmonary outflow tract obstruction was 100%, and freedom from reoperation for any cause was 86.6%. Transcatheter stenting for peripheral pulmonary stenosis was performed in 6 patients 2 to 10 months after operation.

Adolescent↗

PubMed2001

[Relationship between skipping breakfast and cardiovascular disease risk factors in the national nutrition survey data].

PURPOSE: To investigate the relationship between skipping breakfast and cardiovascular disease risk factors such as blood pressure, serum lipids, smoking, and lock of exercise. MATERIALS AND METHODS: Data from the National Nutrition survey conducted by the Ministry of Health and Welfare, from 1995 through 1997 were employed for the analysis. Data were used only if subjects were between 20 and 59 years old and had participated in the nutrition survey, and values for height and weight, blood pressure, serum lipids, blood sugar, number of steps per day, and smoking, drinking, and exercise habits were available. The number of subjects with data available for all of the above was 11,778 (4,438 men and 7,340 women). Analyses were performed separately by sex. The relationship between skipping breakfast and continuous variables such as nutrient intake ratio (nutrient intake divided by recommended dietary allowances), body mass index, blood pressure, serum lipids, blood sugar, and the number of steps per day was examined controlling for age using analysis of covariance (ANCOVA). The relationship between skipping breakfast and categorical variables such as smoking, drinking, and exercise habits was assessed controlling for age using Cochran-Mantel-Haenszel statistics. RESULTS: The younger the generation, the higher the rate of skipping breakfast. The rate of skipping breakfast in men was twice as high as in women. The breakfast skippers tended to intake less energy and calcium, both in men and women, that non-skippers. Female skippers tended to intake less iron and vitamin D. The number of steps per day was smaller in breakfast skippers than that in non-skippers both in men and women. Male skippers tended to have higher blood pressure than non-skippers, and female skippers tended to have a higher serum total cholesterol level than non-skippers. The breakfast skippers tended to smoke more than non-skippers, both in men and women, and female skippers tended to drink more alcohol and take less exercise. CONCLUSIONS: Skipping breakfast is related to cardiovascular risk factors such as lack of exercise, smoking, high blood pressure, and high serum total cholesterol.

Adult↗

PubMed2001

[Evaluation of the new pump for home parenteral nutrition Terumo Cafty].

This study was undertaken to evaluate the usefulness of 'Cafty' which is a new infusion pump system for administering home parenteral nutrition (HPN), recently launched by Terumo Corporation. We used 'Cafty' in two patients and found it has more advantages than the existing pump with regard to the following points: 1. Cafty is provided with a display and alarms that indicate pump troubles such as emptiness, occlusion or mis-operation. 2. It is easier to carry because of its smaller size (width 80 mm x length 132 mm x thickness 33 mm) and its lighter weight (320 g). 3. While Cafty operation using a cassette-type tubing and plain control panel to simpler the flow rate accuracy is not reduced. In conclusion, Cafty is better than the existing HPN pump from the viewpoint of safety, portability and easiness.

Adolescent↗

PubMed2001

[Retinal neuronal cell death: molecular mechanism and neuroprotection].

In retinitis pigmentosa, retinal detachment, age-related macular degeneration, and glaucoma, retinal neuronal cells are damaged by a common mechanism, apoptosis. Because apoptosis is an active process that requires de novo expression of a "death message", this process can be controlled by inhibiting the expression of the "death message". We first studied whether a retinal ischemia-reperfusion model can be used as a model for retinal neuronal apoptosis. In the retinal ischemia-reperfusion injuries, typical features of apoptosis, including TUNEL-positive cells, DNA ladder formation, and ultrastructural features of apoptosis were found. Using the model, systematic research to identify the "death message" was done by DNA microarray analysis. About 200 messages were found to be up- or down-regulated during the process of retinal ischemia-reperfusion. These genes were divided into four groups: (1) transcription factor genes, (2) cell cycle-related genes, (3) reactive oxygen scavenger genes and (4) molecular chaperon genes. The possible roles of such genes in neuronal apoptosis following retinal ischemia-reperfusion injury were studied. In the model, reactive oxygen species produced by reperfusion was found to generate lipid peroxides and induced up-regulation of a transcription factor, c-Jun, that further induced aberrant expression of cell cycle-related genes such as cyclin D1 in amacrine cells. However, because no controlled expression of cell cycle-related genes takes place in retinal neurons, amacrine cells died by a G1 arrest mechanism. On the other hand, horizontal cells never expressed cyclin D1 and the cells were found to die by necrosis. The study revealed a possible mechanism of retinal neuronal apoptosis and it also became apparent that different types of neurons use different "death messages". Furthermore, the possibility that inhibition of a "death message" sometimes induces necrosis rather than apoptosis was shown. This means that we need to try inhibition of the death mechanism upstream rather than downstream. Administration of thioredoxin, an endogenous reactive oxygen species that blocks generation of lipid peroxides and thus inhibits the death process upstream, was found to be neuroprotective against retinal ischemia-reperfusion injury. Aberrant expression of c-Jun and cyclin D1 was down-regulated by the treatment. Possible roles of caspases were also studied by using the ischemia-reperfusion injury, RCS rat, and excessive light exposure damage in wild type and caspase-1 deficient mice. Also, application of adeno-associated virus that carries Bcl-xL was tested to find possible neuroprotective effects on RCS rats. Our studies showed that caspase-1 played a more important role in the retinal photoreceptors and caspase-3 was important in neurons in the inner nuclear layer. Caspase-2 was found to be a major caspase in the retinal ganglion cell layer. In agreement with the findings, caspase-1 deficient mice showed less prominent light damage than wild type mice. Gene therapy by Bcl-xL was effective to protect retinal photoreceptor damage in RCS rats.

Animals↗

PubMed2000

Anti-AB titer changes in patients with ABO incompatibility after living related kidney transplantations: survey of 101 cases to determine whether splenectomies are necessary for successful transplantation.

BACKGROUND: A shortage of organ donors for transplantation has become a serious problem throughout the world. To overcome this problem, transplantations across ABO blood barriers have been performed with some success. In general, however, the graft survival rate for transplantation with ABO incompatibility is lower than that of transplantation with ABO compatibility. Unfortunately, the mechanism by which isohemagglutinins might injure an ABO-incompatible graft remains uncertain. Here, the pre- and posttransplantation anti-AB titers in patients who received transplants from ABO-incompatible living donors are reviewed and the pathological findings are compared. METHODS: One hundred and one patients underwent ABO-incompatible living related kidney transplantation (i-LKT) between January 1989 and October 1999 at our hospital. Plasmapheresis and immunoadsorption were performed in all of the i-LKT patients before the transplantation to remove anti-AB antibodies. A splenectomy was also performed during the operation, followed by the local irradiation of the graft with a dose of 150 rad. The anti-AB titers and pathological findings for 93 i-LKT patients, excluding 8 patients who died, were then examined. RESULTS: Immediately after the i-LKT, the anti-AB titer dropped rapidly to below 1:4 in all 93 cases. Seventy of patients (70/93, 75%) showed no elevation in their anti-AB titer during their follow-up. However, the remaining 23 patients (23/93, 25%) showed a significant elevation of their anti-AB titer to over 1:16. Sixteen of these patients (16/93, 17%) exhibited an anti-AB titer of over 1:32. Out of these 16 patients, 11 patients (11/16, 69%) lost their grafts. The anti-AB titer in the remaining five patients (5/16, 31%) spontaneously decreased without any special treatment. Seven patients (7/93, 8%) exhibited an elevated titer of 1:16. Out of these patients, only one patient (1/7, 14%) lost his graft. The elevated titers in the remaining six patients (6/7, 86%) eventually decreased. The graft function improved in patients whose elevated anti-AB titers eventually decreased. Control patients (ABO-compatible kidney transplant patients) showed a normal elevation of their titer values compared with preoperative titers. Pathological findings showed severe humoral rejections in all cases with high anti-AB titers that lost grafts. Humoral rejection was also detected in most of the patients whose anti-AB titer was elevated to over 1:16 after the transplantation, but excellent renal function was resumed once the titers decreased to below 1:4. CONCLUSIONS: In 23 out of 93 i-LKT patients (25%), the anti-AB titers were significantly elevated after the splenectomy. In view of other reports of i-LKT without splenectomy, we feel that a splenectomy in i-LKT patients might be unnecessary. Pathological evidence suggests that the decrease in the anti-AB titer after transplantation might be the net result of plasmapheresis before the operation and the adsorption of antibodies to the endothelium of the transplanted organ after the operation, neither of which is influenced by a splenectomy.

ABO Blood-Group System↗

PubMed2000

Expression of cyclooxygenase-2 in prostate carcinoma.

BACKGROUND: Nonsteroidal antiinflammatory drugs inhibiting cyclooxygenase (COX) enzyme activity in both its constitutive (COX-1) and inducible (COX-2) isoforms were shown also to inhibit the development of colon carcinoma in animal models. COX-2 is an inducer of angiogenesis of new blood vessels. The expression of COX-1 and COX-2 in prostate tissues from patients with prostate carcinoma was investigated using reverse transcriptase-polymerase chain reaction (RT-PCR) and immunohistochemistry. METHODS: Tumor specimens were obtained from 28 prostate carcinoma (PC) patients, 8 benign prostatic hyperplasia (BPH) patients, 1 prostatic intraepithelial neoplasia (PIN) patient, and 8 specimens of normal prostate tissue (NP). Affinity-purified COX-1 and COX-2 antibodies were used in immunochemistry. RESULTS: Very weak expression of COX-1 and marked expression of immunoreactive COX-2 in tumor cells was obtained. In contrast, expression of both isoforms was very weak in all cases of BPH and in the NP tissues. Immunoreactive COX-1 also was very weak in all cases of benign tissues. The extent and intensity of immunoreactive COX-2 polypeptides in tumor cells was statistically much greater than those of cells from BPH. Immunostaining with normal rabbit immunoglobulin G was completely negative. By RT-PCR analysis, enhanced expression of COX-2, but not COX-1, was observed in PC tissue. BPH displayed faint expression of COX-2. CONCLUSIONS: The results of the current study demonstrated that human prostate carcinoma cells generated COX-2, and that COX-2 might play an important role in the proliferation of prostate carcinoma cells. These findings suggest that inhibition of COX-2 development may lead not only to inhibition of the proliferation and metastasis of prostate carcinoma but also to the inhibition of prostate carcinogenesis.

Aged↗

PubMed2000

Genetic variants of CYP19 (aromatase) and breast cancer risk.

The effect of a SNP in exon 10 of CYP19 on tumor mRNA levels and splice variants were studied and correlated with clinical parameters and risk of breast cancer. In the vast majority of breast cancers, the estrogen levels modulate the tumor growth and depend on the activity of CYP19. Patients (n=481) and controls (n=236) were genotyped by T-tracks in a single sequencing reaction (SSR). The frequency of TT genotypes was significantly higher in patients versus controls (P=0.007) particularly among those with stage III and IV disease (P=0.004) and with tumors larger than 5 cm (P=0.001). A significant association between presence of the T allele and the level of aromatase mRNA in the tumors was observed (P=0.018), as well as with a switch from adipose promoter to ovary promoter (P=0. 004). Previously, we reported a rare polymorphic allele of CYP19 (repeat (TTTA)12) to be significantly more frequent in breast cancer patients than in controls. Here we describe another polymorphism, a C - T substitution in exon 10 of the CYP19 gene which is in strong linkage disequilibrium with the (TTTA)n polymorphism but with higher frequency of the variant allele. Our data suggest that the T-allele of the CYP19 gene is associated with a 'high activity' phenotype. Oncogene (2000) 19, 1329 - 1333.

3' Untranslated Regions↗

PubMed2000

Tubby-like protein 1 as an autoantigen in cancer-associated retinopathy.

Cancer-associated retinopathy (CAR) is a rare paraneoplastic syndrome that is characterized by retinal degeneration. Two cDNA clones, recoverin and tubby-like protein 1 (TULP1), were isolated from a human retinal cDNA library by using serum from a CAR patient as the probe. Both recoverin and TULP1 are retina-specific protein, and TULP1 is a member of tubby gene family. A determination of the recognized amino acid sequence of TULP1 by the patient serum and immunohistochemical studies on the distribution of TULP1 in the retina were done in this study.

Amino Acid Sequence↗

PubMed2000

Correlation of cyclin D1 MRNA levels with clinico-pathological parameters and clinical outcome in human breast carcinomas.

In order to evaluate the prognostic significance of cyclin D1 mRNA expression in mammary neoplasia, its levels were measured in 97 breast cancers by reverse transcription-polymerase chain reaction (PCR) using fluorescent primer and standard RNA along with estrogen receptor (ER). The median value of cyclin D1 mRNA was 1.60 amol/microg RNA (range, 0.01 to 5.63 amol/microg RNA). ER mRNA was detectable in 70 breast cancer samples (72.2%) and cyclin D1 mRNA levels were significantly higher in ER mRNA-positive than in ER mRNA-negative tumors (p = 0.009). Furthermore, cyclin D1 mRNA levels were significantly (p = 0.001) lower in patients who experienced a recurrence during the follow-up period (mean of 40.8 months, median of 39 months) compared with those with no evidence of recurrent disease (mean of 49.2 months, median of 48 months), and in those who died from disease (mean follow-up period of 30.5 months, median of 26 months) than in the survivors (mean of 50.5 months and median of 48 months) (p = 0.005). Setting the median value (= 1.60 amol/microg RNA) as the cutoff point, expression was significantly associated with relapse-free survival (p = 0.002). Similarly, a significant correlation was observed between the cyclin D1 mRNA level and overall survival (p = 0.015). The expression was found to be an independent factor for predicting relapse-free survival using multivariate analysis.

Adult↗

PubMed2000

Preliminary results of myoblast injection into the urethra and bladder wall: a possible method for the treatment of stress urinary incontinence and impaired detrusor contractility.

The purpose of this study is to explore the feasibility of myoblasts, the precursors of muscle fibers, injected periurethrally as a potential treatment of stress urinary incontinence. We also studied myoblast injection into the bladder wall to potentially improve detrusor contractility. A myoblast cell line was transduced with adenovirus carrying the expression of the beta-galactosidase reporter gene while in culture. The cells were incubated with fluorescent latex microspheres (FLMs) to follow the outcome of the injected cells. The tissue was harvested 3-4 days after injection; sectioned, fixed, assayed for beta-galactosidase expression, and counterstained with H+E. Photographs of the slides were taken under light and fluorescence microscopy. We have noted a large number of cells expressing beta-galactosidase and containing FLMs in the urethral and bladder walls under fluorescent microscopy (8 animals). Many regenerative myofibers expressing beta-galactosidase were also seen in the urethral and bladder walls. The fusion of injected myoblasts to form myotubes was seen in both the urethral and bladder walls. The introduction of myoblasts into the urethral and bladder wall is feasible and results in formation of myotubes and myofibers in the smooth muscle layers of the lower urinary tract. We hypothesize that myoblast injections can be used as a non-allergenic agent to enhance urethral closure and bladder function.

Animals↗

PubMed2000

Trends in the incidence of hip fracture in Japan, 1987-1997: the third nationwide survey.

The third nationwide survey for hip fracture incidence was conducted in 1997 following the first such survey in 1987 and the second in 1992. The purpose of this study was to investigate the trends in the incidence and regional distribution of this disease during 10 years. Of 10271 orthopedic institutions in Japan, 4503 were selected as subjects for the study using the optimum allocation method. Questionnaires concerning new patients with hip fracture were mailed. The replies were obtained from 2930 institutions by the end of December 1998; the response rate was 65.1%. The number of new patients was estimated to be 89900-94900 [mean, 92400; 20100-21400 (20800) men and 69600-73600 (71600) women]. The number of cases in 1997 was about 1.7 times higher than that in the first survey and 1.2 times higher than that in the second survey. The age-specific incidence (per 10000 per year) in men and women in 1997 was 0.30 and 0.13, respectively, for age under 40 years; 0.91 and 0.60, 40-49 years; 2.00 and 2.39, 50-59 years; 5.12 and 9.07, 60-69 years; 17.3 and 40.8, 70-79 years; 57.4 and 147.8, 80-89 years; and 128.9 and 281.0, for age over 90 years. The incidence was increased compared with that of the first survey, and similar to the second survey, excepting that of women aged 80 years or older. Concerning regional differences, hip fracture incidence was relatively low in the eastern area compared to the western area in Japan, which was a trend identical to that in the previous nationwide surveys.

Adult↗

PubMed2000

Optical coherence tomograghy to confirm early closure of macular holes.

PURPOSE: To report that optical coherence tomography as early as 24 hours after macular hole surgery shows anatomic configuration of the closed macular holes. METHOD: In a prospective study, seven eyes of seven consecutive patients with stage 3 or 4 idiopathic macular hole underwent surgery. Optical coherence tomography was performed preoperatively and at 24, 48, and 72 hours after the surgery. RESULTS: Optical coherence tomography images could be obtained on four out of the seven eyes at 24 hours after surgery. These images showed anatomic configuration of the closed macular holes. Surgical success was confirmed in all of the eyes when the gas was completely absorbed. CONCLUSION: Optical coherence tomography revealed anatomic configuration of surgically closed macular holes within 24 hours after successful surgery.

Aged↗

PubMed2000

A novel compound heterozygous mutation in the RDH5 gene in a patient with fundus albipunctatus.

PURPOSE: To report a novel compound heterozygous mutation in the 11-cis retinol dehydrogenase (RDH5) gene in a patient with fundus albipunctatus. METHOD: We examined the RDH5 gene genotype in members of a Japanese family. Clinical examination showed that the proband had fundus albipunctatus and his aunt had retinitis pigmentosa. The RDH5 gene was analyzed by direct genomic sequencing. RESULTS: The proband had a compound heterozygotic missense mutation of Val177Gly (GTC-->GGC) and Arg280His (CGC-->CAC) in his RDH5 gene. His mother had the Arg280His mutation and his father had the Val177Gly mutation, but his father's aunt who has typical retinitis pigmentosa had the wild type RDH5 gene. The occurrence of Val177Gly has not been reported in the RDH5 gene of fundus albipunctatus. CONCLUSION: A novel compound heterozygous missense mutation in the RDH5 gene was found in a patient with fundus albipunctatus.

Alcohol Oxidoreductases↗

PubMed2000

Clinical and pathological features of accessory valve tissue.

BACKGROUND: Accessory valve tissue is a rare congenital cardiac malformation causing a variety of clinical features. We describe our experience with the surgical treatment of accessory valve tissue to clarify clinical and pathological features of this anomaly. METHODS: Between December 1990 and February 1999, 11 children underwent resection of accessory valve tissue together with repair of coexisting intracardiac malformations. Eight patients had accessory tricuspid valve, while 3 had accessory mitral valve tissue. Associated intracardiac malformations included tetralogy of Fallot in 6 patients, transposition of the great arteries in 3, coarctation complex in 1, and ventricular septal defect in 1. RESULTS: Accessory valve tissue was completely resected in all but 1 patient with accessory mitral valve and transposition of the great arteries. As total resection of the accessory valve tissue through the pulmonary artery was unsuccessful, partial resection and bidirectional Glenn shunt operation was performed instead of arterial switch operation in this patient. CONCLUSIONS: The clinical signs and symptoms of accessory valve tissue vary according to its location and coexisting cardiac malformations. Congenital heart surgeons should be familiar with the clinical and pathological features of accessory valve tissue, so as not to overlook it during operation.

Cardiac Catheterization↗