OBJECTIVETo establish a new diagnostic method for Down's syndrome using polymerase chain reaction (PCR).

METHODSDNA extracted from five healthy individuals and five Down's syndrome patients was amplified in six specific tetranucleotide repeat loci on chromosome 21 using PCR. An accurate diagnosis was made by analyzing allelic distribution at each locus.

RESULTSAll Down's syndrome patients were identified as having at least two loci with three alleles, while none of the healthy individuals had three alleles. In addition, when two alleles were identified for a particular locus in the Down's syndrome samples, it was more likely that the intensity ratio between the two alleles was close to 2:1.

CONCLUSIONThe molecular method can provide a fast, accurate, and economical alternation for the traditional cytogenetic diagnostic method for Down's syndrome.

Cytogenetic Analysis ; methods ; Down Syndrome ; diagnosis ; genetics ; Humans ; Polymerase Chain Reaction

Objective To investigate the intra- and interobserver repeatability of coronary artery disease (CAD) diagnosis based on invasive coronary angiography (ICA) and CT coronary angiography (CTCA).Methods Two readers with comparable experience ( over 10 years) independently evaluated ICA results of 42 consecutive patients with a blind method. After 30 days,one of them reviewed the same patients again.Another two comparable-experience (over 10 years) readers evaluated the results of CTCA (prospectively ECG-triggering) from the same 42 patients in the same way.The inter-reader and intra-reader repeatability of ICA and CTCA were analyzed by performing Kappa test and calculating the percentage of the segments with agreement on stenotic degree.Using ICA as reference,the accuracy of CTCA in diagnosing CAD was studied by comparing the area under ROC. Results The Kappa between readers for ICA and CTCA were 0.91 and 0.81.Intra-reader Kappa were 0.92 and 0.83 respectively (x2 =509.4 and 432.5,all P ＜0.01 ).The percentage of the segments with agreement between readers on the degree of stenosis were 80.8％ (494/611) in ICA and 75.2％ (469/624) in CTCA ( x2 =2.75,P =0.10),and within the same reader,86.9％ (531/611)in ICA and 81.9％ (511/624) in CTCA(x2 =3.76,P =0.053).With≥ 50％narrowing as a CAD diagnosis criterion,the agreement rates for two readers were 96.6％ (590/611 ) in ICA and 94.4％ (589/624) in CTCA( x2 =3.36,P =0.07),and for the same reader,97.4％ (595/611) in ICA,95.4％ (595/624) in CTCA ( x2 =3.62,P =0.06).Using ICA as reference,two readers of CTCA results achieved a sensitivity and specificity of 84.9％ (530/624)and 98.1％ (612/624).The area under ROC was 0.94 (95％ CI 0.91-0.97).Conclusions Both ICA and CTCA demonstrate good repeatability in diagnosing CAD.The repeatability of ICA is superior to that of CTCA.A certain discrepancy exists in two readings from the same reader or two readers.

OBJECTIVETo analyze the value of the diagnostic criteria for bladder outlet obstruction in benign prostatic hyperplasia (BPH).

METHODSA total of 358 patients with BPH were divided into 3 grades according to fibrous urethrocystoscopy information on the severity of obstructions, which were classified as Grade 1 (slight), Grade 2 (moderate), and Grade 3 (severe). By Schäfer's graph they were divided into 7 grades, represented by 0 to VI. We analyzed the volume of prostate, maximum flow rate (Qmax), residual urine volume, International Prostatic Symptom Score (IPSS) and detrusor instability. Statistical analysis ANOVA (analysis of variance) was made, spearman correlation evaluated and the coefficient of determination measured.

RESULTSOf all the patients, 27 were classified as Grade 1, 236 as Grade 2 and 95 as Grade 3. Eighty-four patients had detrusor instability. The volumes of the prostate ranged from 16 ml to 145 ml, averaging (47.04 +/- 15.61) ml. The mean maximum flow rate was (10.02 +/- 2.12) ml/min and the mean residual urine volume was (84.06 +/- 36.50) ml. With the increase of the severity of obstruction, the volume of the prostate increased (F = 4.216, P < 0.05), IPSS rose (F = 8.408, P < 0.001), the maximum flow rate decreased (F = 22.43, P < 0.001), the residual urine volume rose (F = 163.232, P < 0.001), the incidence of detrusor instability increased (F = 23.637, P < 0.001) and Schäfer's grades were elevated (F = 202.897, P < 0.001). The volume of the prostate, the maximum flow rate (Qmax), residual urine volume, IPSS detrusor instability and Schäfer's grades were all correlated significantly with the severity of the obstruction. The correlation index and coefficient of determination were r = 0.29, R2 = 0.08; r = 0.35, R2 = 0.12; r = -0.69, R2 = 0.47; r = 0.60, R2 = 0.36; r = 0.33, R2 = 0.11; r = 0.72, R2 = 0.52; respectively. The correlation between the urethrocystoscopy information and Schäfer's graph on the severity of the obstruction were the best criteria of all.

CONCLUSIONThe severity of the obstruction at urethrocystoscopy correlates well with that at urodynamic investigation. Such criteria could improve the sensitivity and specificity of the diagnosis of bladder outlet obstruction.

Aged ; Aged, 80 and over ; Humans ; Male ; Middle Aged ; Prostatic Hyperplasia ; complications ; diagnosis ; Retrospective Studies ; Urinary Bladder Neck Obstruction ; diagnosis ; etiology ; Urodynamics