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Biomedical subjects

Y H Joo

Publications and source records attributed to Y H Joo.

10 recordsLinked to original sources

Are neurologic examination abnormalities heritable? A preliminary study.

BACKGROUND: Neurologic examination abnormalities (NEA) are more prevalent among patients with schizophrenia as well as their unaffected relatives when compared with healthy controls, suggesting that NEA may be endophenotypes for schizophrenia. We estimated the heritability of NEA in moderately sized pedigrees. We also evaluated correlations between NEA and cognitive performance in order to examine their construct validity. METHODS: Members of eight extended families, each consisting of two first degree relatives with schizophrenia/schizoaffective disorders, as well as available first- to fifth-degree relatives were examined (n=96 participants). A modification of the Neurological Evaluation Scale (NES) was employed, augmented with localizing signs. Where feasible, we used untransformed data such as error counts and completion time, rather than ordinal measures. Heritability was estimated using the variance component method, implemented in SOLAR. RESULTS: Statistically significant heritability (h2) estimates were obtained for several measures (p<0.05, h2+/-standard error: rapid alternating movements, right-sided completion time, 0.99+/-0.19; alternating fist-palm test, completion time, 0.77+/-0.19 s, errors, 0.70+/-0.32; fist-ring test, right-sided completion time, 0.53+/-0.23 s, left-sided completion time, 0.70+/-0.21 s; go-no go task, correct responses, 0.93+/-0.33; audio-visual integration, correct responses, 0.79+/-0.54). For most items, heritability analysis was hampered by insufficient data variability (infrequent errors). Correlational analyses show some degree of divergence among types of NEA, repetitive motor tasks being associated with most domains of cognitive functioning other than executive functioning, and cognitive-perceptual tasks being associated with memory and executive functioning. CONCLUSIONS: Significant familial influences on certain aspects of neurologic performance were detected. These heritable measures were also correlated with heritable neurocognitive measures.

Adolescent↗

DNA pooling: a comprehensive, multi-stage association analysis of ACSL6 and SIRT5 polymorphisms in schizophrenia.

Many candidate gene association studies have evaluated incomplete, unrepresentative sets of single nucleotide polymorphisms (SNPs), producing non-significant results that are difficult to interpret. Using a rapid, efficient strategy designed to investigate all common SNPs, we tested associations between schizophrenia and two positional candidate genes: ACSL6 (Acyl-Coenzyme A synthetase long-chain family member 6) and SIRT5 (silent mating type information regulation 2 homologue 5). We initially evaluated the utility of DNA sequencing traces to estimate SNP allele frequencies in pooled DNA samples. The mean variances for the DNA sequencing estimates were acceptable and were comparable to other published methods (mean variance: 0.0008, range 0-0.0119). Using pooled DNA samples from cases with schizophrenia/schizoaffective disorder (Diagnostic and Statistical Manual of Mental Disorders edition IV criteria) and controls (n=200, each group), we next sequenced all exons, introns and flanking upstream/downstream sequences for ACSL6 and SIRT5. Among 69 identified SNPs, case-control allele frequency comparisons revealed nine suggestive associations (P<0.2). Each of these SNPs was next genotyped in the individual samples composing the pools. A suggestive association with rs 11743803 at ACSL6 remained (allele-wise P=0.02), with diminished evidence in an extended sample (448 cases, 554 controls, P=0.062). In conclusion, we propose a multi-stage method for comprehensive, rapid, efficient and economical genetic association analysis that enables simultaneous SNP detection and allele frequency estimation in large samples. This strategy may be particularly useful for research groups lacking access to high throughput genotyping facilities. Our analyses did not yield convincing evidence for associations of schizophrenia with ACSL6 or SIRT5.

Case-Control Studies↗

Percutaneous transhepatic cholangioscopic treatment for hepatolithiasis: an evaluation of long-term results and risk factors for recurrence.

BACKGROUND: Percutaneous transhepatic cholangioscopy (PTCS) has a major role in the treatment of hepatolithiasis. The aims of this study were to evaluate immediate and long-term results of PTCS treatment and to elucidate the risk factors for recurrence of stones or cholangitis. METHODS: A retrospective study was conducted of patients with hepatolithiasis who underwent PTCS treatment. A total of 92 patients underwent PTCS treatment and 68 were followed for 24 to 60 months (median 42 months). RESULTS: Complete clearance of stones was achieved in 74 (80%) patients. The rate of complete clearance was significantly lower in patients with severe intrahepatic strictures compared with that for those with no strictures (14 of 24, 58% vs. 16 of 16, 100%, p < 0.01) and those with mild to moderate strictures (14 of 24, 58% vs. 44 of 52, 85%, p < 0.05). Patients with severe intrahepatic strictures had a higher recurrence rate than those with no or mild strictures (100% vs. 28%, p < 0.01). In addition the recurrence rate in patients with advanced biliary cirrhosis (Child's class B or C) was higher than in those with no or mild (Child's class A) cirrhosis (89% vs. 29%, p < 0.01). In patients with type I and II hepatolithiasis (Tsunoda classification), stones recurred in 2 (12%) patients at 28 and 32 months after successful stone removal, without further recurrence afterwards. The recurrence rate in patients with type III and IV hepatolithiasis increased gradually up to 50% at 60 months of follow-up. CONCLUSIONS: Severe intrahepatic stricture was the only factor that affected the immediate success rate of PTCS in the treatment of hepatolithiasis. Several risk factors including severe biliary stricture, advanced biliary cirrhosis and Tsunoda type III and IV affected the long-term results.

Adult↗

Incomplete pancreas divisum: is it merely a normal anatomic variant without clinical implications?

BACKGROUND AND STUDY AIMS: Incomplete pancreas divisum (PD) has been generally regarded as merely a normal anatomic variant, without clinical implications. This study compares the prevalence, symptom occurrence rate, clinical presentation, and outcomes of endoscopic treatment in patients with incomplete PD and those with complete PD. PATIENTS AND METHODS: The study population consisted of 56 patients (27 with complete PD and 29 with incomplete PD), identified from 4473 newly performed endoscopic retrograde cholangiopancreatography examinations. Endoscopic treatment (minor papilla sphincterotomy with stents or nasopancreatic drainage tube insertion) was attempted in 25 symptomatic patients with PD, which was suspected to be causing the associated pancreatic diseases: acute recurrent pancreatitis (ARP) (n = 13; five patients with complete PD and eight with incomplete PD); chronic pancreatitis (CP) (n = 10: five patients with complete PD and five with incomplete PD); and pancreatic-type pain (PP) (n = 2; one patient with complete PD and one with incomplete PD). The mean follow-up period was 17 months (range 9 - 49 months). RESULTS: In 12 of the 27 patients with complete PD--six with ARP, five with CP, and one with PP--it was suspected that PD was the cause of pancreatic disease. Ten of the 11 symptomatic patients with complete PD underwent successful endoscopic treatment (five with endoscopic minor papilla sphincterotomy and stenting, and five with endoscopic minor papilla sphincterotomy and endoscopic nasopancreatic drainage), and seven of these ten patients benefited from the endoscopic treatment. In 14 of the 29 patients with incomplete PD--eight with ARP, five with CP, and one with PP--it was suspected that pancreas divisum was the cause of pancreatic disease. Thirteen of the 14 symptomatic patients with incomplete PD underwent successful endoscopic treatments (six with endoscopic minor papilla sphincterotomy and stenting, and seven with endoscopic minor papilla sphincterotomy and endoscopic nasopancreatic drainage), and eight of these 13 patients experienced clinical improvement. CONCLUSIONS: The prevalence rate, symptom occurrence rate, clinical presentation, and outcomes of endoscopic treatment were similar in patients with complete PD and incomplete PD. Incomplete PD may therefore have similar clinical implications to those of complete PD.

Adult↗

Electroacupuncture may relax the sphincter of Oddi in humans.

BACKGROUND: This study was designed to evaluate the effects of electroacupuncture on sphincter of Oddi (SO) motility in humans and to associate the manometric findings with cholecystokinin (CCK) plasma levels. METHODS: Eleven patients (M:F = 5:6) with various kinds of biliary disorders were enrolled. SO motility was monitored with conventional low-compliance, continuous perfusion technique at ERCP (n = 9) or via percutaneous transhepatic cholangioscopy (n = 2). After baseline monitoring for phasic wave contractions of SO, electroacupuncture was applied at a specific acupoint GB 34. A nonspecific acupoint 5 cm away from GB 34 was selected as a control. Manometric parameters of the SO were also measured in 6 subjects during stimulation of the control acupoint. CCK plasma levels were measured during electroacupuncture stimulation. RESULTS: All manometric parameters including basal pressure, amplitude, frequency, and duration of phasic wave contractions of the SO were significantly decreased (p < 0.05) during electroacupuncture stimulation. The inhibition of SO contractility was accompanied by increased CCK plasma levels. After discontinuation of electroacupuncture stimulation, restoration of amplitude and duration to basal conditions was noted. A tendency toward return of SO basal pressure and contractile frequency to baseline was also observed. Stimulation of the control acupoint did not affect SO contractility. CONCLUSION: Electroacupuncture stimulation of acupoint GB 34 resulted in reversible inhibition of SO contraction in humans. The response of SO to electroacupuncture stimulation may be mediated by some neurohormonal mechanisms including CCK release.

Adult↗

Risk factors for recurrence of primary bile duct stones after endoscopic biliary sphincterotomy.

BACKGROUND: Endoscopic biliary sphincterotomy (EST) is a well-established procedure for bile duct stone extraction. Bile duct stones can be classified as primary or secondary. However, few data are available on the recurrence of primary and secondary bile duct stones after EST. Therefore risk factors for the recurrence of primary bile duct stones after EST were prospectively studied. METHODS: Between 1991 and 1997, 61 patients underwent EST for primary bile duct stones. All met the following criteria: (1) previous cholecystectomy without bile duct exploration, (2) detection of bile duct stones at least 2 years after initial cholecystectomy. Mean follow-up was 2.2 years. Fourteen patients were lost to follow-up. The recurrence of primary bile duct stones was defined as the detection of bile duct stones no sooner than 6 months after complete clearance of primary bile duct stones. RESULTS: The overall recurrence rate of primary bile duct stones was 21% (10 of 47). Two significant risk factors for recurrence were identified by multivariate analysis: (1) patients with a bile duct diameter of 13 mm or greater after stone removal had recurrences more frequently than those with a duct diameter of 13 mm or less, and (2) patients whose papilla was located on the inner rim or deep within a diverticulum, so that the papillary orifice was not visible endoscopically, had more frequent recurrences than patients with a papilla outside the diverticulum, or no peripapillary diverticulum. CONCLUSION: The independent risk factors for recurrence of primary bile duct stones were sustained dilation of the bile duct even after complete removal of stones and location of the papilla on the inner rim or deep within a diverticulum.

Aged↗

Electroconvulsive shock does not induce c-fos and junB, but TIS1 and TIS8/zif-268, in neonatal rat hippocampus.

The induction in the animal brain of immediate early genes (IEGs) is known to be age-dependent, and it was suggested that, during neonatal period, signaling pathways for the induction of IEGs are immature. In this study, we investigated the induction of various IEGs in neonatal rat hippocampus after electroconvulsive shock (ECS). ECS did not induce c-fos and junB in the hippocampus of 7-day-old rat, but these genes were weakly induced at postnatal 14 days and to an adult level at postnatal 21 days; two other IEGs, TIS1 (NGFI-B, nur77) and TIS8 (zif-268, Egr-1, Krox-24, NGFI-A), were induced at postnatal 7 days, however. Our results suggested that during the neonatal period, signaling pathways for TIS1 and TIS8 induction in rat hippocampus after ECS are complete, while those for c-fos and junB are immature.

Animals↗

Induction of tetradecanoyl phorbol acetate-inducible sequence (TIS) genes by electroconvulsive shock in rat brain.

We studied the induction of tetradecanoyl phorbol acetate-inducible sequences (TIS)1, 7, 8, 11, and 21 in rat cerebral cortex, hippocampus, and cerebellum after electroconvulsive shock (ECS). These genes were reported to be induced by depolarization in PC-12 cells. Single ECS induced TIS1, 8, 11, and 21, but not TIS7 genes in the rat brain regions examined. In cerebral cortex and hippocampus, induction of TIS1, TIS8, and TIS21 reached peak at 30 or 45 min after ECS. The induced mRNA of TIS1 and 21 decreased rapidly and returned almost to the basal level by 90 min after ECS, whereas those of TIS8 and 11 lasted longer. In cerebellum, TIS genes were induced and disappeared more rapidly than in the other two regions. The 10 and 20 daily ECSs did not affect the inducibility of TIS1, 11, and 21 in cerebellum, but the induction of TIS8 was attenuated by 35% after 20 daily ECSs. Our study indicated that ECS could induce some of the TIS genes in various rat brain regions, but the induction patterns were different depending on the TIS genes and brain regions. Our study also suggested that chronic ECS could not attenuate the induction of some immediate early genes.

Animals↗