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Biomedical subjects

H C Kuo

Publications and source records attributed to H C Kuo.

At least 19 recordsLinked to original sources

Computer-identified nuclear localization signal in exon 1A of the transporter DMT1 is essentially ineffective in nuclear targeting.

Divalent metal transporter 1 (DMT1; also called DCT1, Nramp2, or SLC11A2) has multiple isoforms that localize differently in many cell types. DMT1 +IRE species (encoded by mRNA with an iron-responsive element) are limited to the plasma membrane and cytosolic vesicles. In neural cells, -IRE isoforms of DMT1 (encoded by mRNA lacking an IRE) localize to the nucleus, plasma membrane, and cytosolic vesicles. In considering nuclear compartmentalization of -IRE isoforms, we hypothesized that the newly identified exon 1A in the N-terminus of this transporter might contain a nuclear localization signal. DNA constructs starting with exon 1A and ending with exons encoding alternative isoforms were made and transiently transfected into HEK293T and PC12 cells as well as rat sympathetic neurons. None of the constructs appeared in the nucleus despite the presence of exon 1A. Antibody specific for exon 1A was also used in both immunostaining and Western blots to investigate localization of exon 1A expressed both endogenously and ectopically in cells. Again, nuclear localization of DMT1 containing exon 1A was not observed. Our data suggest that exon 1A is neither sufficient nor necessary for DMT1 to appear in the nucleus.

Animals↗

A defect in the Kv channel-interacting protein 2 (KChIP2) gene leads to a complete loss of I(to) and confers susceptibility to ventricular tachycardia.

KChIP2, a gene encoding three auxiliary subunits of Kv4.2 and Kv4.3, is preferentially expressed in the adult heart, and its expression is downregulated in cardiac hypertrophy. Mice deficient for KChIP2 exhibit normal cardiac structure and function but display a prolonged elevation in the ST segment on the electrocardiogram. The KChIP2(-/-) mice are highly susceptible to the induction of cardiac arrhythmias. Single-cell analysis revealed a substrate for arrhythmogenesis, including a complete absence of transient outward potassium current, I(to), and a marked increase in action potential duration. These studies demonstrate that a defect in KChIP2 is sufficient to confer a marked genetic susceptibility to arrhythmias, establishing a novel genetic pathway for ventricular tachycardia via a loss of the transmural gradient of I(to).

Action Potentials↗

Myasthenia gravis and Waldenström's macroglobulinemia: a case report and review of the literature.

An elderly man with ocular type myasthenia gravis (MG) was found to have monoclonal gammopathy (IgM). Waldenström's macroglobulinemia (WM) was proven later. This is the second case report of MG associated with WM. However, this case is unique due to the presence of anti-acetylcholine receptor (anti-AChR) antibody (IgG). MG is considered to be an autoimmune disease and WM an immunoproliferative disorder. The association of MG and WM is not clear.

Aged↗

The surgical results of the pubovaginal sling procedure using polypropylene mesh for stress urinary incontinence.

OBJECTIVE: To investigate the surgical results after a pubovaginal sling procedure using polypropylene mesh in women with stress urinary incontinence (SUI). PATIENTS AND METHODS: Sixty-four women with different types of SUI underwent a pubovaginal sling procedure, using polypropylene mesh. The sling was placed at the level of the proximal half of the urethra and tied with adequate tension, but not obstructing the bladder outlet. A video-urodynamic study and transrectal ultrasonography were undertaken before and after surgery. The surgical results were assessed and the urodynamic changes compared at different stages. RESULTS: At a median follow-up of 24 months, 52 patients (81%) were completely continent, 10 (16%) had an improvement but with mild SUI, and two had persistent SUI requiring a second sling procedure. The treatment result was considered satisfactory by 55 patients (86%). The video-urodynamic study showed no significant change in voiding pressure, cystometric capacity and residual urine volume after surgery. The bladder neck opening time was increased at 7 days and the maximum flow rate increased at 3 months after surgery. Transrectal ultrasonography showed that all the polypropylene mesh slings were located beneath the bladder neck and proximal urethra, with no notable granuloma formation around the sling. CONCLUSION: The pubovaginal sling procedure is effective in treating female SUI, using polypropylene mesh as the sling material. The video-urodynamic results showed that a pubovaginal sling of polypropylene mesh causes no bladder outlet obstruction when the correct surgical technique is used.

Adult↗

Comparison of video urodynamic results after the pubovaginal sling procedure using rectus fascia and polypropylene mesh for stress urinary incontinence.

PURPOSE: Video urodynamic changes were compared after the pubovaginal sling procedure using rectus fascia or polypropylene mesh in women with stress urinary incontinence. MATERIALS AND METHODS: A total of 50 women with various types of stress urinary incontinence were treated with the pubovaginal sling procedure using randomly abdominal rectus fascia in 24 or polypropylene mesh in 26. The sling was placed at the level of the bladder neck and tied with sufficient tension to prevent urinary leakage without obstructing the bladder outlet. Video urodynamics were performed preoperatively, and 7 to 14 days and 3 to 6 months postoperatively in all cases. Surgical results and urodynamic changes after the pubovaginal sling procedure were compared in the 2 groups. Long-term results were evaluated at a mean followup of 2 years. RESULTS: Complete continence was achieved in 23 patients (95.8%) in the rectus fascia group and 26 (100%) in the polypropylene mesh group, including 1 initial failure with reoperation, at a median followup of 24 and 23 months, respectively. The subjective success rate was 91.6% for rectus fascia and 92.3% for polypropylene mesh. The main cause of dissatisfaction was persistent urge incontinence and dysuria in 2 cases each. In each group video urodynamics revealed a mild but nonsignificant decrease in maximum urinary flow and a significant increase in bladder neck opening time at 7 to 14 days versus baseline. However, these parameters returned to baseline within 3 to 6 months postoperatively. Voiding pressure, cystometric capacity and post-void residual urine also showed no significant change in either group after the pubovaginal sling procedure. Patients treated with a polypropylene mesh sling had a shorter operative time and hospital stay, a higher spontaneous voiding rate after catheter removal and a lower incidence of wound pain after surgery. One patient treated with polypropylene mesh had sling margin extrusion. The incidence of new onset detrusor instability and persistent dysuria was similar in the 2 groups. Transrectal sonography of the sling showed that it was located beneath the bladder neck and proximal urethra in all patients in each group. CONCLUSIONS: The results of this study show that the pubovaginal sling procedure using rectus fascia or polypropylene mesh as the sling material had similar effectiveness for treating female stress incontinence but the polypropylene group had more rapid recovery. Postoperatively video urodynamics demonstrated that the pubovaginal sling using either sling material did not cause bladder outlet obstruction with proper surgical technique.

Fasciotomy↗

Long-term results of surgical treatment for female stress urinary incontinence.

OBJECTIVE: To compare the long-term success rates of bladder neck suspension (BNS) and pubovaginal sling procedure in different types of female stress urinary incontinence (SUI) in order to identify appropriate treatment strategies for SUI. METHODS: A total of 157 women who received anti-incontinence surgery were followed-up for a mean period of 58.1 +/- 33.9 months. The surgical outcome was analyzed and was compared among the different types of SUI and among BNS and pubovaginal sling procedures. RESULTS: SUI was classified as type I in 16 patients, type II in 111 patients, and type III in 34 patients. Surgical procedures included Gittes BNS (n = 62), Raz BNS (n = 53), and pubovaginal sling procedure (n = 42). The total success rate was 77.1%, including a 38.2% cure rate and a 38.9% significantly improved rate. Analysis of the results revealed that type III SUI had the lowest success rate (67.6%), while the pubovaginal sling procedure had the best success (93.9%) and cure rates (54.8%). The success rates of BNS were significantly lower than that of pubovaginal sling in type III SUI, less favorable in type II SUI, but remained high in type I SUI. 75% of patients with treatment failure had recurrence within the fist postoperative year. CONCLUSIONS: In this series of patients, the long-term cure rates of anti-incontinence surgeries are not satisfactory. BNS procedures had satisfactory results only in type I SUI while the pubovaginal sling procedure had better results in both types II and III SUI. The pubovaginal sling procedure might have better long-term results in the treatment of all types of SUI.

Aged↗

Sonographic evaluation of anatomic results after the pubovaginal sling procedure for stress urinary incontinence.

OBJECTIVE: To investigate the anatomic changes after the pubovaginal sling procedure in women with stress urinary incontinence by transrectal sonography METHODS: This study enrolled 56 women with varying types of stress urinary incontinence who were treated with the pubovaginal sling procedure using self-fashioned polypropylene mesh. The suburethral sling was fixed without tension and was placed at the position between the bladder neck and the proximal urethra. The patients were investigated preoperatively and postoperatively by transrectal sonography of the bladder and urethra. RESULTS: At a median follow-up of 24 months (range, 6-39 months), 48 patients (85.7%) were cured, 6 (10.7%) had improved, and 2 (3.6%) had treatment failures. Transrectal sonography revealed a well-suspended bladder neck and proximal urethra in all patients who were cured. As measured by changes of the axis of the pubovesical ligament, the position of the bladder neck was elevated by a mean of 29.6 +/- 21.5 degrees in the resting condition and 47.4 +/- 27.7 degrees in the straining condition. An incompetent bladder neck and proximal urethra were noted in 8 patients who had stress urinary incontinence after surgery. The incidence of opening of the bladder neck was 84.6% in 13 patients with de novo urgency or urge incontinence, whereas only 2 (4.7%) of 43 patients who did not have postoperative urgency had opening of the neck (P = .000). CONCLUSION: Transrectal sonography provides useful information about anatomic changes after the pubovaginal sling procedure. Bladder neck incompetence after surgery was closely related to postoperative urgency or urge incontinence.

Adult↗

Urodynamic results of intravesical heparin therapy for women with frequency urgency syndrome and interstitial cystitis.

BACKGROUND AND PURPOSE: Although intravesical heparin instillation is effective in relieving symptoms in patients with frequency urgency syndrome and interstitial cystitis (IC), its efficacy has not been evaluated by urodynamic study. We used urodynamic studies to evaluate the efficacy of heparin instillation in patients with frequency urgency syndrome and IC. METHODS: Forty women (mean age, 59.6 yr) with severe frequency, urgency, and suprapubic pain at full bladder were enrolled in this study. Patients underwent videourodynamic study with the potassium chloride (KCl) test. All patients had a positive KCl test and were treated with intravesical heparin 25,000 units twice a week for 3 months. Results of urodynamic study and voiding symptom changes assessed by the International Prostate Symptom Score at the end of treatment were compared with baseline data. RESULTS: Twenty-nine patients had symptom score improvement of more than 50%, and eight had symptom score improvement of less than 50% but improved nocturia. Significant improvement in symptom score (9.0 +/- 4.0 vs 19.5 +/- 4.6, p < 0.001) and nocturia (2.3 +/- 1.1 vs 5.7 +/- 2.0, p < 0.001) were noted after treatment. Urodynamic study at the end of treatment revealed significant improvements in the first sensation of filling (146 +/- 55.4 vs 96 +/- 46.4 mL, p = 0.001) and cystometric capacity (304 +/- 84.8 vs 262 +/- 89.8 mL, p = 0.002). Posttreatment KCl test was negative in 20 patients, improved in 13, and unchanged in seven. Among the 10 patients with cystoscopically proven IC, eight had symptomatic improvement and four had a negative KCl test after treatment. CONCLUSIONS: IC and frequency urgency syndrome may be caused by increased urothelial permeability. The results of this study show that intravesical heparin can relieve bladder symptoms in a significant proportion of patients, and this may be associated with the restoration of mucosal integrity.

Administration, Intravesical↗

Anatomical and functional results of pubovaginal sling procedure using polypropylene mesh for the treatment of stress urinary incontinence.

PURPOSE: The anatomical and functional results of pubovaginal sling procedure using polypropylene mesh were investigated. MATERIALS AND METHODS: A total of 50 women with stress urinary incontinence, including 26 with type 2, 7 with mixed type 2/3 and 17 with type 3 disease, underwent the pubovaginal sling procedure using polypropylene mesh. A self-fashioned 2 cm. polypropylene mesh sling was used in all cases. The slings were fixed without tension at each side of the bladder neck. The sling was further suspended to elevate the bladder neck in patients with type 2 disease and those with a hypermobile bladder base, while it was placed without further tension in those with type 3 disease and those with a nonmobile bladder base. After the operation video urodynamics and transrectal sonography were done to evaluate functional and anatomical results. RESULTS: At a median followup of 24 months 42 women were cured, 6 had improvement and treatment had failed in 2. Although the maximum flow rate increased, no changes were noted in detrusor pressure, post-void residual urine or cystometric capacity at month 3. Transrectal sonography revealed that mean sling width plus or minus standard deviation had decreased to 13.5 +/- 3.3 mm. at 3 months. The endopelvic fascia was thicker in women with type 2 than in those with types 2/3 or 3 disease (mean 5.3 +/- 1.5 versus 3.5 +/- 1.3 mm., p = 0.001). The position of bladder neck on video urodynamics was elevated a mean of 2.01 +/- 2.01 and 3.07 +/- 2.07 cm. compared to baseline elevation during resting and straining, respectively (p = 0). No hypermobility was noted while the patients coughed and no kinking of the urethra was observed while they performed the Valsalva maneuver. Detrusor instability resolved in 6 of 8 women (75%) and new onset detrusor instability was noted in 7 (14%). In 2 women with persistent stress urinary incontinence a repeat sling procedure was necessary to treat type 3 disease and cure incontinence. The overall success rate was 96%. One patient with sling erosion into the vaginal wall was treated with simple revision. CONCLUSIONS: Fixation of a polypropylene mesh sling at the bladder neck and adequate suspension may effectively achieve a hammock effect without creating bladder outlet obstruction in patients with types 2 and 2/3 stress urinary incontinence. The anatomical and functional results of this study show that a well suspended bladder neck did not create bladder outlet obstruction after a pubovaginal sling procedure using polypropylene mesh.

Adult↗

Lack of cell cycle checkpoints in human cleavage stage embryos revealed by a clonal pattern of chromosomal mosaicism analysed by sequential multicolour FISH.

Multicolour fluorescence in situ hybridisation (FISH) analysis of interphase nuclei in cleavage stage human embryos has highlighted a high incidence of postzygotic chromosomal mosaicism, including both aneuploid and ploidy mosaicism. Indeed, some embryos appear to have a chaotic chromosomal complement in a majority of nuclei, suggesting that cell cycle checkpoints may not operate in early cleavage. Most of these studies, however, have only analysed a limited number of chromosomes (3-5), making it difficult to distinguish FISH artefacts from true aneuploidy. We now report analysis of 11 chromosomes in five sequential hybridisations with standard combinations of two or three probes and minimal loss of hybridisation efficiency. Analysis of a series of arrested human embryos revealed a generally consistent pattern of hybridisation on which was superimposed frequent deletion of one or both chromosomes of a specific pair in two or more nuclei indicating a clonal origin and continued cleavage following chromosome loss. With a binucleate cell in a predominantly triploid XXX embryo, the two nuclei remained attached during preparation and the chaotic diploid/triphoid status of every chromosome analysed was the same for each nucleus. Furthermore, in each hybridisation the signals were distributed as a mirror-image about the plane of attachment, indicating premature decondensation during anaphase consistent with a lack of checkpoint control.

Aneuploidy↗

A pregnancy following PGD for X-linked dominant [correction of X-linked autosomal dominant] incontinentia pigmenti (Bloch-Sulzberger syndrome): case report.

Incontinentia Pigmenti (Bloch-Sulzberger syndrome) is a rare multisystem, ectodermal disorder associated with dermatological, dental and ocular features, and in <10% of cases, severe neurological deficit. Pedigree review suggests X-linked dominance with lethality in affected males. Presentation in female carriers is variable. Following genetic counselling, a mildly affected female carrier diagnosed in infancy with a de novo mutation was referred for preimplantation sexing, unusually selecting for male gender, with an acceptance of either normality or early miscarriage in an affected male. Following standard in-vitro fertilization and embryo biopsy, fluorescence in situ hybridization (FISH) unambiguously identified two male and two female embryos. A single 8-cell, grade 4 male embryo was replaced. A positive pregnancy test was reported 2 weeks after embryo transfer, although ultrasonography failed to demonstrate a viable pregnancy. Post abortive fetal tissue karyotyping diagnosed a male fetus with trisomy 16. This is an unusual report of preimplantation genetic diagnosis (PGD) being used for selection of males in an X-linked autosomal dominant disorder and demonstrates the value of PGD where amniocentesis or chorion villus sampling followed by abortion is not acceptable to the patient. This case also demonstrates the importance of follow-up prenatal diagnosis.

Adult↗

Pathophysiology of lower urinary tract symptoms in aged men without bladder outlet obstruction.

OBJECTIVE: To assess the pathophysiology of lower urinary tract symptoms (LUTS) in aged men without bladder outlet obstruction in a videourodynamic study. METHODS: In a videourodynamic study of 324 consecutive men with moderate to severe LUTS suggestive for bladder outlet obstruction, 112 were found to be urodynamically nonobstructed. International prostatic symptom score (IPSS), uroflowmetry and transrectal sonography of the prostate were assessed before videourodynamic study. The pressure flow expression and the obstructive parameters were compared between the 212 obstructed and 112 nonobstructed men. RESULTS: Of the 112 nonobstructed men investigated, 25 had a normal bladder and urethral trace (22.3%), 5 had detrusor instability (4.5%), 17 had a hypersensitive bladder and a normal urethra (15.2%), 3 had detrusor underactivity and a normal urethra (2.7%), while 61 were found to have a poorly relaxed external sphincter and low detrusor contractility (54.5%). Most of the patients in the normal and hypersensitive groups had normal voiding pressure and high flow (NPHF) tracings, whereas men with detrusor underactivity or a poorly relaxed external sphincter had normal voiding pressure and low flow (NPLF) tracings. Only the maximal flow rate and voided volume were significantly higher in patients with NPHF than in patients with NPLF tracings. However, both groups showed a significantly lower IPSS, less residual urine, and a smaller transition zone index than the obstructive group. After medical treatment, 78 patients (69.6%) had satisfactorily improved, 31 patients (27.6%) remained stationary, while 3 (2.7%) worsened. CONCLUSION: Nonobstructed men with LUTS have various pathophysiologies other than benign prostatic obstruction. In this study 54.5% of these patients had poorly relaxed external sphincter on videourodynamic study. Identification of the underlying pathology can not only prevent unnecessary prostate surgery but can also enable proper medical treatment to be selected.

Aged↗

Videourodynamic study for diagnosis of bladder outlet obstruction in women.

BACKGROUND AND PURPOSE: In order to characterize the etiology of bladder outlet obstruction (BOO) in Taiwanese women, the results of videourodynamic studies performed in women with lower urinary tract symptoms (LUTS) were analyzed. The treatment results were compared with the underlying pathophysiology among the three etiologies of urethral stricture, spastic urethral sphincter, and cystocele. METHODS: From October 1997 through February 1999, 364 female patients underwent videourodynamic study to investigate the underlying etiology of LUTS. BOO was defined as a voiding detrusor pressure of 50 cm H2O or greater and a narrow urethra on the voiding cystourethrography. Cystoscopy, urethral sounding, and external sphincter electromyography were used in conjunction with the pressure/flow findings for differential diagnosis of the etiology of BOO. RESULTS: Among the 364 patients with LUTS who underwent videourodynamic study, 35 (9.6%) had BOO. Detailed investigation revealed that 15 of these women had urethral stricture (43%), 14 had spastic urethral sphincter (40%), and six had cystocele (17%). No significant difference was found in the urodynamic parameters among these three groups of patients. The incidence of bladder trabeculation and urge incontinence was significantly higher in patients with urethral stricture. Improvement of urine flow and voiding symptoms was achieved in 87% of the patients with urethral stricture, 50% female patients with spastic urethral sphincter, and 100% of those with cystocele. CONCLUSIONS: The results suggest that BOO is not uncommon in women with LUTS, and that a correct diagnosis of BOO should be based on comprehensive urodynamic study.

Adolescent↗

Clinical prostate score for diagnosis of bladder outlet obstruction by prostate measurements and uroflowmetry.

OBJECTIVES: To establish a clinical prostate score based on the parameters of uroflowmetry and prostate measurements to provide a better prediction of benign prostatic obstruction (BPO) in men with lower urinary tract symptoms (LUTS) and small prostate volume. METHODS: From October 1997 to September 1998, a prospective study of 324 consecutive men with LUTS was conducted in a community hospital in Taiwan. All patients were first evaluated by uroflowmetry and transrectal sonography of the prostate, and a videourodynamic study (VUDS) was performed before any medication was given. Patients were grouped as obstructed or unobstructed according to the results of the VUDS. Parameters from uroflowmetry and prostate measurements were evaluated for their sensitivity in predicting BPO. A clinical prostate score was established by summing scores on seven prostatic and uroflowmetric items: maximal flow rate (Qmax), flow pattern, voided volume, residual urine amount, total prostate volume (TPV), transition zone index (TZI), and prostatic configuration. Each of these items had a score representing the grade of sensitivity of BPO. RESULTS: Among the 324 men examined, only 65.4% were found to have obstruction by VUDS. A value of Qmax 10 mL/s or less had a sensitivity of only 75.4% and specificity of only 63.7% for BPO. A constrictive flow pattern had 87.2% sensitivity, residual urine 100 mL or greater had 86.1%, TPV 40 mL or greater had 94.6%, TZI 0.5 or greater had 87.8%, and the presence of a median lobe had 87.1% sensitivity; the presence of any of these factors added 2 points to the score. The other parameters were scored as 1, 0, and -1, representing their sensitivity as slightly superior or inferior to that of LUTS. A prostate score of 3 or greater had a sensitivity of 87.2% and a specificity of 60.8% for BPO. On the basis of this prostate score, 148 patients (46%) would have been treated for BPO without the need for further investigation, of whom 19 (5.9%) would have been misdiagnosed. The remaining 176 patients (54%) would have undergone a VUDS and 93 of these patients (28.7%) were unobstructed. CONCLUSIONS: By combining uroflowmetry and transrectal sonography of the prostate, patients with LUTS can be diagnosed with a good sensitivity and specificity. Using the parameters in the uroflow and prostate measurements, a prostate score could be established and used as an indicator of BPO for selecting patients with LUTS who require further treatment or invasive VUDS.

Aged↗

Videourodynamic results after pubovaginal sling procedure for stress urinary incontinence.

OBJECTIVES: To determine the influence of surgery on bladder and urethral function by performing a videourodynamic study in female patients with stress urinary incontinence (SUI) before and after a pubovaginal sling procedure. METHODS: A total of 14 women with type II SUI, 7 with type III SUI, and 3 with mixed type II/III SUI were included in the study. The pubovaginal sling procedure was carried out using a modified method that minimized interference with the endopelvic fascia. Videourodynamic study was performed before the procedure, within 7 to 14 days postoperatively, and at 3 to 6 months postoperatively. RESULTS: Videourodynamic study within 7 to 14 days postoperatively revealed no change in the mean voiding detrusor pressure (Pdet), cystometric capacity, or maximal flow rate (Qmax) compared with the preoperative data. The bladder neck opening time and residual urine amount were significantly increased. Within 3 to 6 months after surgery, Pdet, Qmax, bladder neck opening time, and residual urine amount returned to preoperative levels. An elevation of the bladder neck was noted during coughing in 7 patients. After surgery, de novo detrusor instability was noted in 2 patients (8.3%). No infection or sling failure was noted at a mean follow-up time of 12 months. The success rate was 96%. CONCLUSIONS: The pubovaginal sling procedure is an effective method for the treatment of type II or type III SUI. The postoperative videourodynamic results show that this procedure can re-establish a "hammock effect" on the proximal urethra during abdominal straining without compromising urethral resistance.

Adult↗

Position of poly(methyl methacrylate) and silicone intraocular lenses after phacoemulsification.

PURPOSE: To compare the positional change of poly(methyl methacrylate) (PMMA) and silicone intraocular lenses (IOLs) in vivo after phacoemulsification. SETTING: Taipei Municipal Yang-Ming Hospital, Taipei, Taiwan. METHODS: A prospective study of 70 cataractous eyes treated by phacoemulsification with IOL implantation was carried out. The eyes were randomized into 2 groups based on IOL type: 1-piece PMMA IOL; 3-piece silicone IOL. The amount of IOL tilt and decentration was measured and anterior chamber depth (ACD) determined by Scheimpflug photography using an anterior eye segment analysis system (EAS-1000, Nidek). All eyes were examined 1 week and 1 to 6 months after surgery. RESULTS: No statistically significantly differences were found in the amount of tilt and decentration between 2 IOL types throughout the study. The ACDs were relatively constant in both groups through the early postoperative periods. CONCLUSION: The stability of PMMA and silicone IOLs were the same after phacoemulsification.

Aged↗

Chromosomal mosaicism in cleavage-stage human embryos and the accuracy of single-cell genetic analysis.

PURPOSE: Our purpose was to assess the effect of chromosomal mosaicism in cleavage-stage human embryos on the accuracy of single-cell analysis for preimplantation genetic diagnosis. METHODS: Multicolor fluorescence in situ hybridization with X, Y, and 7 or X, Y, 7, and 18 chromosome-specific probes was used to detect aneuploidy in cleavage-stage human embryos. RESULTS: Most nuclei were diploid for the chromosomes tested but there was extensive mosaicism including monosomic, double-monosomic, nullisomic, chaotic, and haploid nuclei. CONCLUSIONS: Identification of sex by analysis of a single cleavage-stage nucleus is accurate but 7% of females are not identified. One or both parental chromosomes 7 were absent in at least 6.5% of the nuclei. With autosomal recessive conditions such as cystic fibrosis, carriers would be misdiagnosed as normal or affected. With autosomal dominant conditions, failure to analyze the affected parents allele (1.6-2.5%) would cause a serious misdiagnosis and analysis of at least two nuclei is necessary to reduce errors.

Chromosome Aberrations↗

Quality of life after active urological management of chronic spinal cord injury in eastern Taiwan.

OBJECTIVE: Motor cycle accidents are the major cause of head injury and spinal cord injury (SCI) in Taiwan. The incidence of SCI in Hualien county is the highest in the world. In a community hospital in Hualien, active urological management was carried out for SCI patients with voiding dysfunctions and urological complications. This study was conducted to assess the success of active urological management. METHODS: From 1988 to 1996, in the urological department, 251 SCI patients with varying voiding dysfunctions or urological complications were managed with various surgical or nonsurgical procedures according to their underlying pathologies. The satisfaction rate and quality of life index were assessed before and after active urological treatment. RESULTS: There were 118 patients with cervical SCIs, 93 patients with thoracic or lumbar SCIs, and 40 patients with sacral SCIs or infrasacral neuropathy. After initial managements, 174 patients were able to pass urine by themselves, by clean intermittent self-catheterization (CISC) or with an indwelling Foley catheter. The remaining 77 patients suffering from severe dysuria, urinary incontinence, hydronephrosis and frequent urinary tract infections were managed with various surgical procedures. The procedures included external sphincterotomy (n = 30), enterocystoplasty (n = 28), autoaugmentation (n = 6), continent urinary diversion (n = 7), periurethral Teflon injection (n = 3), and transurethral resection of the prostate (n = 3). After treatment, hydronephrosis resolved in 100% of the kidney units; frequent symptomatic urinary tract infection improved in 83.3% after external sphincterotomy and 75% after enterocystoplasty and continent diversion; while urinary incontinence disappeared or improved in 93% after enterocystoplasty and autoaugmentation. The total satisfaction rate was 84.4% after the surgical procedures. The mean quality of life index improved from -1.27 +/- 0.39 to +1.54 +/- 0.38 after management. However, some complications such as mucus secretion (76.5%), abdominal pain (20.6%), loose stool (23.5%) and frequent stone formation (11.8%) still bothered the patients undergoing enterocystoplasty and continent diversion. Repeat sphincterotomy was necessary in 16.7% of patients, and 50% were not satisfied with total incontinence after external sphincterotomy. During the follow-up period, 87% of all patients had > or = 1 yearly episode of urinary tract infection after spinal injury and 11 patients died of urosepsis. CONCLUSIONS: Active urological management to improve quality of life and to treat urological complications in SCI patients is mandatory. After long-term follow-up, SCI patients can be free of indwelling catheters, hydronephrosis usually resolves and urinary tract infections are infrequent.

Adolescent↗