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Background: The long-term outcomes of post-colonoscopy colorectal cancer have varied in previous studies. Our nationwide cohort analysis estimated expected years of life lost to adjust for lead time bias., Aim: We recalculated the long-term outcomes for post-colonoscopy and detected colorectal cancer., Methods: Patients with colorectal cancer registered in the Taiwan Cancer Registry between 2002 and 2009 were enrolled. The detected group included 22,169 cases of colorectal cancer confirmed within 6 months after a colonoscopy. The post-colonoscopy group included 1653 cancer patients who received a colonoscopy 6-60 months before diagnosis. Patients were followed up until 2011. We simulated age-, sex-, and calendar year-matched referents from life tables in the Taiwan National Vital Statistics using a Monte Carlo method. The life expectancy and expected years of life lost of the cancer patients were obtained from extrapolation of the logit transformation of the survival ratio between the cancer cohorts and the referent groups., Results: Post-colonoscopy colorectal cancer had shorter life expectancies than detected cancer (stages 2-4: 13.6 vs. 16.1 years; 8.7 vs. 12.6 years; 2.1 vs. 4.1 years, p < 0.001). The loss-of-life expectancy did not show this trend after adjusting for lead time bias. Post-colonoscopy colorectal cancer was found at an older age, more often proximal, and was associated with previous endoscopic polypectomy procedures (p < 0.001)., Conclusions: Post-colonoscopy colorectal cancer leads to a shorter life expectancy, which appears partially explained by the presence of lead time bias. Quality assurance for colonoscopy and close surveillance for high risk groups would reduce post-colonoscopy colorectal cancer.

Background: A slower heart rate can exaggerate J-point elevation in a 12-lead ECG. This study examined the role of Holter monitoring in the diagnosis of early repolarisation pattern (ERP)., Methods: We examined 24-hour Holter recordings of 4000 consecutive patients seen at an outpatient clinic, and found 500 patients (12.5%) with ERP (based on J-point elevation magnitude maximum value≥0.1mV on the Holter recording). The highest magnitude of J-point elevation, R wave amplitude, the ratio between J-point elevation magnitude and R-wave amplitude on the same ECG lead (J/R ratio), QRS interval, and QT/QTc interval were measured on the Holter recording and on a surface 12-lead ECG of the 500 patients with ERP. The magnitude of J-point elevation, J/R ratio, and QT/QTc interval were compared between three groups: nighttime Holter recording, daytime Holter recording, and daytime surface 12-lead ECG., Results: The magnitude of J-point elevation of the nighttime Holter (0.20±0.10mV) was higher than that of the daytime in Holter (0.12±0.07mV, p<0.001) and the 12-lead ECG (0.12±0.06mV, p<0.001). There was no statistical difference in magnitude of J-point elevation between daytime Holter and surface 12-lead ECG. While all 500 patients were diagnosed with ERP based on J-point elevation maximum value J-point on Holter monitoring, only 425 (85%) patients could be diagnosed with ERP based on the surface 12-lead ECG. The J-point elevation maximum value on the nighttime Holter was negatively correlated with heart rate (r=-0.15, p=0.0007) and QTc (r=-0.13, p=0.0043), and positively correlated with R wave amplitude (r=0.46, p<0.0001), J/R ratio (r=0.69, p<0.0001), and QRS interval (r=0.29, p<0.0001)., Conclusions: The J-point elevation on nighttime Holter recording was higher than that on daytime Holter and daytime surface 12-lead ECG, and there was misdiagnosis of ERP based on daytime surface 12-lead ECG. Holter monitoring has a complementary role in the diagnosis of ERP, especially in patients with a suspected diagnosis of ERP based on daytime surface 12-lead ECG., (Copyright © 2017. Published by Elsevier B.V.)

Objectives: Data about the critical care resources in China remain scarce. The purpose of this study was to investigate the variation and distribution of critical care resources in Guangdong province from 2005 to 2015., Design: Data in regard to critical care resources were collected through questionnaires and visits every 5 years from 2005., Setting: All hospitals in Guangdong province were screened and hospitals that provide critical care services were enrolled., Intervention: None., Measurements and Main Results: One hundred eleven, 158, and 284 hospitals that provide critical care services were enrolled in the three consecutive surveys respectively. The number of ICUs, ICU beds, intensivists, and nurses increased to 324, 3,956, 2,470, and 7,695, respectively, by 2015. Adjusted by population, the number of ICU beds per 100,000 (100,000) population increased by 147.7% from 2005 to 2015, and the number of intensivists and nurses per 100,000 population increased by 35.3% and 55.1% from 2011 to 2015. However, the numbers in the Pearl River Delta, a richer area, were higher than those in the non-Pearl River Delta area (ICU beds: 4.64 vs 2.58; intensivists: 2.90 vs 1.61; nurses: 9.30 vs 4.71 in 2015). In terms of staff training, only 17.85% of intensivists and 14.29% of nurses have completed a formal accredited critical care training program by 2015., Conclusions: Our study was the first one to investigate the trend and distribution of critical care resources in China. The quantity of ICU beds and staff has been increasing rapidly, but professional training for staff was inadequate. The distribution of critical care resources was unbalanced. Our study can be beneficial for healthcare policymaking and the allocation of critical care resources in Guangdong province and other provinces in China.

The specific demands of a combat-sport discipline may be reflected in the perceptual-motor performance of its athletes. Taekwondo, which emphasizes kicking, might require faster perceptual processing to compensate for longer latencies to initiate lower-limb movements and to give rapid visual feedback for dynamic postural control, while Karate, which emphasizes both striking with the hands and kicking, might require exceptional eye-hand coordination and fast perceptual processing. In samples of 38 Taekwondo athletes (16 females, 22 males; mean age = 19.9 years, SD = 1.2), 24 Karate athletes (9 females, 15 males; mean age = 18.9 years, SD = 0.9), and 35 Nonathletes (20 females, 15 males; mean age = 20.6 years, SD = 1.5), we measured eye-hand coordination with the Finger-Nose-Finger task, and both perceptual-processing speed and attentional control with the Covert Orienting of Visual Attention (COVAT) task. Eye-hand coordination was significantly better for Karate athletes than for Taekwondo athletes and Nonathletes, but reaction times for the upper extremities in the COVAT task-indicative of perceptual-processing speed-were faster for Taekwondo athletes than for Karate athletes and Nonathletes. In addition, we found no significant difference among groups in attentional control, as indexed by the reaction-time cost of an invalid cue in the COVAT task. The results suggest that athletes in different combat sports exhibit distinct profiles of perceptual-motor performance.

Kimura's disease (KD) is an uncommon, chronic inflammatory disease characterized by tumor-like lesions in the soft tissue and lymph nodes and increased peripheral blood eosinophil counts and serum immunoglobulin E (IgE). Prednisone is widely used to treat the disease. Here, we reported a 59-year-old KD patient failed to response to prednisone. Leflunomide combined with methylprednisolone (Medrol) were carried out to treat KD and encouraging outcome was obtained during the medication and 1 year follow up period.

Purpose: UDP-glucuronosyltransferases (UGTs) are responsible for the formation of glucuronides of polyphenolic flavonoids. This study investigated the UGT1A9-mediated glucuronidation of luteolin and the kinetics of luteolin glucuronide efflux., Method: HeLa cells overexpressing UGT1A9 (HeLa-UGT1A9) were used to determine the kinetics of breast cancer resistance protein (BCRP)-mediated transport of luteolin glucuronides. Human UGT isoforms were used to determine glucuronidation rates., Results: UGT1A9 was found to catalyze the production of four luteolin glucuronides, including three known monoglucuronides and a novel 3', 4'-diglucuronide. Ko143, a potent specific inhibitor of BCRP, significantly inhibited efflux of luteolin monoglucuronides from HeLa1A9 cells and increased their intracellular levels in a dose-dependent manner. The formation of luteolin diglucuronide was observed when intracellular concentration of total monoglucuronides went above 0.07 nM., Conclusions: Intracellular accumulation of diglucuronide was detected at high monoglucuronide concentrations (>0.07 nM). Diglucuronide production is speculated to be a compensatory pathway for luteolin disposition.

Background & Aims: We used a new, semi-parametric method to estimate life expectancy and expected years of life lost (EYLL) after diagnosis of gastric cancer and assess whether patients' sex or tumor type or location had any effects., Methods: We performed a nationwide retrospective cohort study of 35,576 patients with gastric cancer who were registered in the Taiwan Cancer Registry from 1998 through 2007; data were collected until the end of 2010. The Monte Carlo method and tables in Taiwan National Vital Statistics database were matched to the cohort reference populations on the basis of age and sex. The estimated regression line and the survival curve of reference populations were used to extrapolate the survival curve beyond 2010. We compared patients' age at diagnosis, life expectancy, and EYLL based on sex, tumor type, and location., Results: In Taiwan, gastric cancer is more prevalent among men, and 88.6% of tumors are adenocarcinomas. Patients with adenocarcinoma of the gastric cardia have shorter life expectancies and greater EYLL than those with noncardia tumors (P < .05). Women with gastric adenocarcinoma are diagnosed at a younger age and have longer life expectancies but more EYLL than men with such tumors (P < .05). The estimated years of life saved if gastric adenocarcinoma is diagnosed at an early stage and cured are 22,827 years (2.62 years/case) for women and 33,700 years (1.97 years/case) for men., Conclusion: Among patients with gastric cancer, men and patients with adenocarcinomas of the cardia have shorter life expectancies and more EYLL. Early detection of gastric adenocarcinoma can increase life expectancy., (Copyright © 2013 AGA Institute. Published by Elsevier Inc. All rights reserved.)

Background: Patients with hypoalbuminemia have an increased risk of ulcer rebleeding and longer length of hospitalization., Aims: This study aimed to test whether intravenous albumin can decrease the incidence of rebleeding or shorten the duration of hospitalization in patients with bleeding peptic ulcers and hypoalbuminemia., Methods: Sixty-two patients with bleeding peptic ulcers and Rockall scores ≥ 6 were prospectively enrolled after having received endoscopic therapy. The enrolled patients were divided into a normal albumin group (serum albumin ≥ 3 g/dL, n = 39) or an intervention group (<3 g/dL, n = 23) to receive a 3-day course of omeprazole infusion and 25-day oral esomeprazole. Patients (n = 29) with bleeding ulcers and hypoalbuminemia who received the same dose of intravenous and oral omeprazole but did not receive albumin therapy were enrolled from a previous study as the control group. In the intervention group, patients received albumin infusion (10 g q8h) for 1 day (serum albumin levels 2.5-2.9 g/dL) and 2 days (<2.5 g/dL), respectively., Results: The 28-day cumulative rebleeding rates were similar between the intervention group and the control group (39.1 vs. 42.3 %, p = 0.99). The intervention group had a shorter duration of hospitalization (9 vs. 15 days, p = 0.02) than cohort controls. The risk of rebleeding developed after discharge were similar (normal albumin group vs. intervention group vs. control group, 1/5 [20 %] vs. 2/9 [22.2 %] vs. 1/11 [9.1 %], p = 0.7)., Conclusions: Albumin administration shortens the duration of hospitalization for patients with peptic ulcer bleeding and hypoalbuminemia, but does not decrease the incidence of rebleeding.

Overall performance when tracking moving targets is known to be poorer for larger numbers of targets, but the specific effect on tracking's temporal resolution has never been investigated. We document a broad range of display parameters for which visual tracking is limited by temporal frequency (the interval between when a target is at each location and a distracter moves in and replaces it) rather than by object speed. We tested tracking of one, two, and three moving targets while the eyes remained fixed. Variation of the number of distracters and their speed revealed both speed limits and temporal frequency limits on tracking. The temporal frequency limit fell from 7 Hz with one target to 4 Hz with two targets and 2.6 Hz with three targets. The large size of this performance decrease implies that in the two-target condition participants would have done better by tracking only one of the two targets and ignoring the other. These effects are predicted by serial models involving a single tracking focus that must switch among the targets, sampling the position of only one target at a time. If parallel processing theories are to explain why dividing the tracking resource reduces temporal resolution so markedly, supplemental assumptions will be required.

Aconitum, widely used to treat rheumatoid arthritis for thousands of years, is a toxic herb that can frequently cause fatal cardiac poisoning. Aconitum toxicity could be decreased by properly hydrolyzing diester-diterpene alkaloids into monoester-diterpene alkaloids. Monoester-diterpene alkaloids, including benzoylaconine (BAC), benzoylmesaconine (BMA), and benzoylhypaconine (BHA), are the primary active and toxic constituents of processed Aconitum. Cytochrome P450 (CYP) enzymes protect the human body by functioning as the defense line that limits the invasion of toxicants. Our purposes were to identify the CYP metabolites of BAC, BMA, and BHA in human liver microsomes and to distinguish which isozymes are responsible for their metabolism through the use of chemical inhibitors, monoclonal antibodies, and cDNA-expressed CYP enzyme. High-resolution mass spectrometry was used to characterize the metabolites. A total of 7, 8, and 9 metabolites were detected for BAC, BMA, and BHA, respectively. The main metabolic pathways were demethylation, dehydrogenation, demethylation-dehydrogenation, hydroxylation and didemethylation, which produced less toxic metabolites by decomposing the group responsible for the toxicity of the parent compound. Taken together, the results of the chemical inhibitors, monoclonal antibodies, and cDNA-expressed CYP enzymes experiments demonstrated that CYP3A4 and CYP3A5 have essential functions in the metabolism of BAC, BMA, and BHA.

Children with Developmental Coordination Disorder (DCD) show deficits in the covert orienting of visuospatial attention, suggesting an underlying issue in attentional disengagement and/or inhibitory control. However, an important theoretical issue that remains unclear is whether the pattern of deficits varies with DCD severity. Fifty-one children with moderate DCD (MDCD), 24 children with severe DCD (SDCD), and 38 typically developing (TD) children participated in the study. Their performance was compared on the covert orienting of visuospatial attention task (COVAT), specifically the voluntary control mode. Results showed that the pattern of performance differed between groups. At a short stimulus-response asynchrony (350 ms), the difference in response times for validly and invalidly cued trials was similar for all three groups. However, at the longer SOA (800 ms), both DCD groups continued to show a relative disadvantage for responses that followed invalid cues. This suggests that a deficit in response inhibition and/or attentional disengagement is manifest in children with both moderate and severe DCD. The implications of these findings for theory and treatment are discussed., (Copyright © 2012 Elsevier Ltd. All rights reserved.)

Driving on a busy road, eluding a group of predators, or playing a team sport involves keeping track of multiple moving objects. In typical laboratory tasks, the number of visual targets that humans can track is about four. Three types of theories have been advanced to explain this limit. The fixed-limit theory posits a set number of attentional pointers available to follow objects. Spatial interference theory proposes that when targets are near each other, their attentional spotlights mutually interfere. Resource theory asserts that a limited resource is divided among targets, and performance reflects the amount available per target. Utilising widely separated objects to avoid spatial interference, the present experiments validated the predictions of resource theory. The fastest target speed at which two targets could be tracked was much slower than the fastest speed at which one target could be tracked. This speed limit for tracking two targets was approximately that predicted if at high speeds, only a single target could be tracked. This result cannot be accommodated by the fixed-limit or interference theories. Evidently a fast target, if it moves fast enough, can exhaust attentional resources., (Copyright © 2011 Elsevier B.V. All rights reserved.)

Background: Two major causes of gastric ulcers are Helicobacter pylori (H. pylori) infection and nonsteroidal anti-inflammatory drug (NSAID) use., Aims: This study aimed to determine if there were different expressions of matrix metalloproteinases (MMPs) and tissue inhibitor of matrix metalloproteinase-1 (TIMP-1) between H. pylori-infected and NSAID-related ulcers., Methods: The 126 gastric ulcer patients (H. pylori infected n = 46; NSAID related n = 30; combined with two factors n = 50) provided ulcer and nonulcer tissues for assessment of MMP-3, -7, and -9 and TIMP-1 expression by immunohistochemical staining., Results: Gastric ulcer tissues had significantly higher MMP-3, -7, and -9 and TIMP-1 expressions than nonulcer tissues (P < 0.05). H. pylori-infected gastric ulcers had even higher MMP-7, MMP-9, and TIMP-1 expressions in epithelial cells than NSAID-related gastric ulcers (P < 0.05). In patients with the two combined factors, gastric ulcers expressed similar proportions of antral ulcers and MMP-7 and MMP-9 intensities to NSAID-related gastric ulcers, but lower MMP-9 and TIMP-1 than H. pylori-infected gastric ulcers (P < 0.05)., Conclusions: H. pylori-infected gastric ulcers express higher MMP-7, MMP-9, and TIMP-1 than NSAID-related ulcers. In patients with the two combined factors, ulcer location and MMP-7 and MMP-9 intensities are similar to NSAID use.

Objective: To investigate the epidemiological information of patients in pre-hospital medical care in Guangzhou city, and to explore the characteristics of the patients., Methods: The data in the year of 2008 were retrieved from the computer database of Guangzhou Emergency Medical Rescue Command Center., Results: (1)In a total of 969 410 calls received, the time of distribution was found to be mainly between 16:00 and 18:00 [11.78% (114 224)], and least frequently between 04:00 and 06:00 [2.40% (23 237)]. (2)Among 109 682 dispatches of ambulances, Baiyun district received the most [26.77% (29 364)], and followed by Haizhu district [18.30% (20 069)], Tianhe district [18.20% (19 962)], respectively. (3)Among 97 823 cases of pre-hospital medical care, death rate of the male patients was higher than the female [amount: 57.65% (56 394) vs. 38.48% (37 641), mortality: 59.17% (3 269) vs. 33.95% (1 876)]. (4)In 9 7823 cases of pre-hospital medical care, trauma constituted the highest rate [34.57% (33 820)], especially traffic accidents [11.56% (11 307)], and the age of most of the patients ranged between 21 and 50. Disease of the nervous system ranged the second, followed by diseases of circulatory system, respiratory system and digestive system, and most of them were over 51 years old, and most frequently above 70. (5)In 97 823 cases of pre-hospital medical care, there were 5 525 deaths (5.65%), in whom the circulatory system diseases ranged first (especially sudden death) [33.07% (1 827)], followed by unclassified diseases [29.79% (1 646)], trauma [15.67% (866)], respiratory diseases [7.48% (413)], and neurological emergency illnesses [5.95% (329)]. The age of deceased was far older than 51, particularly 70. The age of most of the deceased was above 61, and age of traumatic death was 21-40., Conclusion: (1) It is very important to reduce the death rate of the middle-old aged patients by strengthening prevention and timely treatment of cardiovascular and cerebrovascular diseases, and improve the medical strategies in emergency care, in order to lower the death rate during emergency.(2)It is very important to emphasize safely in production lines and to strengthen traffic regulations in order to reduce the incidence of trauma, thus it is especially traffic accident, expect that the death rate of trauma could be lowered.

Objective: To investigate the mRNA expression of the tumor necrosis factor (TNF)-adapter proteins, TNF receptor-associated death domain protein (TRADD), Fas-associated death domain protein (FADD), receptor-interacting protein 1 (RIP-1), and TNF receptor-associated factor-2 (TRAF-2) in peripheral blood mononuclear cells (PBMC) from patients with systemic lupus erythematosus (SLE), and to explore the relationship between the expression of these adaptors and the SLE disease activity., Methods: PBMC were isolated from venous blood of 51 SLE patients and 17 healthy subjects. The mRNA expression of TRADD, FADD, RIP-1, TRAF-2, Caspase 3, and interleukin (IL)-1beta were analyzed by quantitative real time RT-PCR. Disease activity was measured using the SLE Disease Activity Index (SLEDAI)., Results: All healthy subjects showed mRNA expressions of TRADD, FADD, RIP-1, and TRAF-2. The mRNA expression levels of TRADD, FADD, RIP-1, and TRAF- in the PBMC from the patients were 0.38, 0.69, 0.59, and 0.55 tomes that from the control subjects (all P < 0.05). The expression levels of these 4 adapters of the SLE patients with the SLEDAI >/= 10 were significantly lower than those of the SLE patients with the SLEDAI < 10 (all P < 0.05). The Caspase3 mRNA expression of the SLE patients was significantly higher than that of the healthy controls (P < 0.01); however, the IL-1beta mRNA expression was not significantly different between the SLE and control subjects. The mRNA expression levels of TRADD, FADD, RIP-1 and TRAF-2 in the PBMC from the SLE patients were all negatively correlated with the SLE activity index with the coefficient correlation of -0.285, -0.280, -0.307, and -0.298 respectively (all P < 0.05)., Conclusion: The mRNA expression levels of the TNF adapter molecules, such as TRADD, FADD, RIP-1, and TRAF-2, decrease significantly in the PBMC from the SLE patients, and are negatively correlated with the SLE activity index. These abnormalities may participate in the immunopathogenic injury mediated by the aberration TNFalpha signaling pathway in SLE.

Background/aims: Recent evidence shows that peroxisome proliferator-activated receptor-gamma (PPAR-gamma) ameliorates a variety of inflammatory conditions. CD40 is a co-stimulatory molecule and its ligation induces production of different proinflammatory cytokines including RANTES (regulated upon activation, normal T cell expressed), which are considered as important factors in the initiation and maintenance of inflammatory response. The aim of this study was to investigate the effect of PPAR-gamma on CD40 and RANTES production on cultured human renal proximal tubular epithelial (HK-2) cells., Methods: HK-2 cells were maintained under defined in vitro conditions and treated with either PPAR-gamma agonist 15-deoxy-12,14-prostaglandin J2 (15d-PGJ2) or 15d-PGJ2 + PPAR-gamma antagonist GW9662, and then stimulated with a combination of tumor necrosis factor-alpha (TNF-alpha) and interferon-gamma (IFN-gamma). The CD40 and RANTES levels were investigated., Results: HK-2 cells expressed low levels of CD40 and RANTES. Activation of HK-2 cells by combined treatment of TNF-alpha and IFN-gamma results in strong synergistic effects on the expression of CD40 and the secretion of RANTES. 15d-PGJ2 significantly decreased CD40 and RANTES expression and GW9662 partly abrogated the inhibition of 15d-PGJ2 on CD40 and RANTES., Conclusion: 15d-PGJ2 significantly decreased CD40 and RANTES expression in HK-2 cells, which were partially mediated by PPAR-gamma-dependent pathways. These results point to PPAR-gamma as a remarkable new target in the prevention of tubular inflammatory injury associated with renal disease., (Copyright (c) 2006 S. Karger AG, Basel.)

Objective: To evaluate the expression of peroxisome proliferators-activated receptor gamma (PPAR gamma) and alpha-smooth muscle actin (alpha-SMA) in unilateral ureteral obstruction (UUO) in rats and the relationship between them and the extent of tubulointerstitial injury., Methods: Male SD rats were randomly subjected to either left ureteral ligation (n=30) or sham operation (n=6), and they were sacrificed on 3, 7, 14, 21 or 28 days after UUO. Sections of renal tissue were stained with hematoxylin and eosin (HE), Masson, or periodic acid-silver methenamine (PASM). The extent of tubulointerstitial injury was determined by Banff classification. Immunohistochemical staining was performed to investigate the expression of PPAR gamma and alpha-SMA in the renal tissue., Results: Swelling of tubular epithelia cells, infiltration of inflammatory cells and proliferation of fibroblasts were not so obvious on days 3 and 7 after UUO. A diffuse inflammatory cells infiltration, and massive fibrous hyperplasia were detectable on days 14 and 21 after UUO. Most tubules showed serious damage and replaced by proliferative fibrous tissue on day 28. The expression of PPAR gamma was almost undetectable in sham operation group. However, it was upregulated on day 3 and peaking on day 14, and then it was slightly decreased on days 21 and 28. The expression of alpha-SMA was only found in vascular smooth muscle cells in sham operation group. It was upregulated mainly in some interstitial cells on day 3 and increased with the progression of tubulointerstitial fibrosis., Conclusion: PPAR gamma expression increases in rat renal tissue after UUO, but does not always correlate with the extent of the alpha-SMA expression and tubulointerstitial injury. These data suggest that increase in PPAR gamma in renal tissue may play an important role in response to inflammation and fibrosis.

Objective: To describe the clinical phenotype in a Chinese family with congenital fibrosis of extraocular muscles and to identify the location of candidate gene of the disease in chromosome., Methods: The clinical feature of all affected members in this family were examined. A genome-wide linkage screening was conducted. Direct genomic sequencing was used to evaluate the candidate gene KIf21A., Results: Four affected members in the pedigree were born with classic phenotype of CFEOM. By linkage analysis the disease gene was mapped to chromosomal region 12p11.2-q12 defined by microsatellite markers D12S1648 and D12S1668. The maximum Lod Score was 2.12 (D12S1090). Direct sequence showed no mutation in all exons and exon-intron boundaries of the candidate gene KIF21A, a polymorphism substitution occurred in the exon 21., Conclusions: The disorder in this family should be referred as CFEOM1 which was inherited as an autosomal dominant trait. The candidate gene was linked to CFEOM1 locus on chromosome 12p11.2-q12, between marker D12S1648 and D12S1668. It's more likely that KIf21A is not the disease causing gene in this family.

Objective: To investigate the change of macrophage migration inhibitory factor (MIF) mRNA expression in peripheral blood mononuclear cell (PBMC) and serum MIF and its correlation with disease active index in patients with systemic lupus erythematosus (SLE)., Methods: MIF mRNA expression of PBMC and serum MIF in patients with active and inactive SLE was measured by reverse transcriptase-polymerase chain reaction and enzyme-linked immunosorbent assay, respectively. The correlations of serum MIF with SLE disease active index, serum ds-DNA antibody, ANA, C3, C4 and IgG were examined., Results: There was marked increase in MIF mRNA expression of PBMC and serum MIF in patients with SLE than that in normal volunteers (P < 0.01). Level of MIF in patients with active SLE was higher than that with inactive SLE (P < 0.01). There were significant correlation between the blood MIF concentration, MIF mRNA expression and SLE disease active index, ds-DNA antibody, C3, C4 and IgG, but no significant different was observed between the blood MIF and antinuclear antibody., Conclusions: MIF mRNA expression in PBMC and serum MIF concentration is significantly increased in patients with SLE and correlates with SLE disease activity. Serum MIF levels may be a useful parameter for monitoring disease active in patients with SLE.

Objective: To investigate the mutation spectrum of phosphodiesterase beta subunit (PDE6B) gene and incidence in Chinese retinitis pigmentosa (RP) patients., Methods: Genomic DNA was extracted from the blood samples of 38 patients from 35 autosomal recessive retinitis pigmentosa (ARRP) families and 55 sporadic cases. The mutation of the PDE6B gene was detected using PCR-SSCP, and the amplified PCR product of abnormal bands was sequenced., Results: Within intron 10 of PDE6B gene, a mutation was found in an ARRP family, a G --> A transition at 19th base upstream 5'-end of exon 11. A novel complex heterozygous variant of PDE6B gene in a sporadic case, a T to C transition in codon 323 resulting in the substitution of Gly by Ser and two bp(TG) inserted between the 27th-28th bp upstream of the 5'-end of exon 10 were both present in the same isolate RP. But they were not found in 100 unrelated normal individuals. A sporadic RP was found carrying a sequence variant of PDE6B gene, a G to C transversion in intron 18, the 15th base adjacent to the 3'end of exon 18. Another isolate RP was found to have 2 bp inserted between 31st and 32nd base upstream 5'end of exon 4 (in intron 3) of PDE6B gene., Conclusion: There is a complex heterozygous mutation of PDE6B gene responsible for a sporadic RP patient in China. Several DNA variants were found in intron of PDE6B gene in the national population.

Objective: To identify the mutation spectrum of phosphodiesterase beta subunit (PDE6B) gene, the incidence in Chinese patients with retinitis pigmentosa (RP) and their clinical phenotypic characteristics., Methods: Screening of mutations within PDE6B gene was performed using polymerase chain reaction-heteroduplex-single strand conformation polymorphism (PCR-SSCP) and DNA sequence in 35 autosomal recessive (AR) RP and 55 sporadic RP cases. The phenotypes of the patients with the gene mutation were examined and analyzed., Results: Novel complex heterozygous variants of PDE6B gene in a sporadic case, a T to C transversion in codon 323 resulting in the substitution of Gly by Ser and 2 base pairs (bp: G and T) insert between the 27th-28th bp upstream of the 5'-end of exon 10 were both present in a same isolate RP. But they are not found in 100 unrelated healthy individuals. Ocular findings showed diffuse pigmentary retinal degeneration in the midperipheral and peripheral fundi, optic atrophy and vessel attenuation. Multi-focal ERG indicated that the rod function was more severely deteriorated. A mutation was found in a case with RP in a ARRP family, a G to A transversion at 19th base upstream 5'-end of exon 11 (within intron 10) of PDE6B gene. A sporadic RP carried a sequence variant of PDE6B gene, a G to C transition, at the 15th base adjacent to the 3'-end of exon l8. In another isolate case with RP was found 2 bp (GT) insert between 31st and 32nd base upstream 5'-end of exon 4 (in intron 3) of PDE6B gene., Conclusions: There are novel complex heterozygous mutations of PDE6B gene responsible for a sporadic RP patient in China. This gene mutation associated with rod deterioration and RP. Several DNA variants were found in introns of PDE6B gene in national population.

Background & Objective: It is possible that some important genes were overexpressed in esophageal carcinoma cells induced by nitric oxid(NO), but it is not yet clear which the genes are. The objective of this study was to separate and identify the overexpressive genes induced by NO in EC109 esophageal carcinoma cell line., Methods: Overexpression of the genes induced by nitric oxid(NO) in EC109 esophageal carcinoma cell line was determined by using suppression subtractive hybridization(SSH). Sixty-nine positive clones were obtained by EcoR I digesting, and overexpressive genes were screened by reverse mRNA dot blot and further confirmed by Northern blot analysis. The nucleotide of their expressed sequence tag(EST) was sequenced and analyzed by using NCBI database., Results: The two mitochondrial DNA coding genes, ND-4L and ND-4, were identified. The ND-4L and ND-4 genes were overexpressed distinctly in the EC109 cell induced by NO. The three point mutations were discovered in a fragment(10,736-11,449) of ND-4L and ND-4 genes., Conclusion: NO can induce overexpression of the ND-4L and ND-4 genes which is coded by mitochondrial DNA. These results provide a new idea for further exploring the mechanism of NO effecting on carcinoma cells.