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Objective: To analyze the occurrence of recompensation conditions in patients with chronic hepatitis B virus-related decompensated cirrhosis after entecavir antiviral therapy. Methods: Patients with hepatitis B virus-related decompensated cirrhosis with ascites as the initial manifestation were prospectively enrolled. Patients who received entecavir treatment for 120 weeks and were followed up every 24 weeks (including clinical endpoint events, hematological and imaging indicators, and others) were calculated for recompensation rates according to the Baveno VII criteria. Measurement data were compared using the Student t-test or Mann-Whitney U test between groups. Categorical data were compared by the χ (2) test or Fisher's exact probability method between groups. Results: 283 of the 320 enrolled cases completed the 120-week follow-up, and 92.2% (261/283) achieved a virological response (HBV DNA 20 IU/ml). Child-Pugh and MELD scores were significantly improved after treatment (8.33 ± 1.90 vs. 5.77 ± 1.37, t = 12.70, P < 0.001; 13.37 ± 4.44 vs. 10.45 ± 4.58, t = 5.963, P < 0.001). During the 120-week follow-up period, 14 cases died, two received liver transplants, 19 developed hepatocellular cancer, 11 developed gastroesophageal variceal bleeding, and four developed hepatic encephalopathy. 60.4% (171/283) (no decompensation events occurred for 12 months) and 56.2% (159/283) (no decompensation events occurred for 12 months and improved liver function) of the patients had achieved clinical recompensation within 120 weeks. Patients with baseline MELD scores > 15 after active antiviral therapy achieved higher recompensation than patients with baseline MELD scores ≤15 [50/74 (67.6%) vs. 109/209 (52.2%), χ (2) = 5.275, P = 0.029]. Conclusion: Antiviral therapy can significantly improve the prognosis of patients with hepatitis B virus-related decompensated cirrhosis. The majority of patients (56.2%) had achieved recompensation. Patients with severe disease did not have a lower probability of recompensation at baseline than other patients.
Subject(s)
Humans , Hepatitis B virus/genetics , Hepatitis B, Chronic/drug therapy , Antiviral Agents/adverse effects , Esophageal and Gastric Varices/complications , Liver Cirrhosis/complications , Treatment Outcome , Gastrointestinal Hemorrhage/complications , Hepatitis B/drug therapy摘要
Objective: To investigate the clinical features and long-term prognosis of primary biliary cholangitis (PBC) in patients with past hepatitis B virus (HBV) infection. Methods: 353 cases with PBC who visited the Liver Disease Center of Beijing Friendship Hospital Affiliated to Capital Medical University between January 2000 and January 2018 were retrospectively analyzed and were divided into the past HBV infection group (156 cases) and the no HBV infection group (197 cases). The two groups' baseline clinical features were compared. Ursodeoxycholic acid response rate after one year, GLOBE score, UK-PBC score, and long-term liver transplantation-free survival rate were compared through outpatient and telephone follow-up. Results: PBC with past HBV infection had a significantly reduced female proportion compared to the no HBV infection group (91.9% vs. 79.5%, P = 0.001). However, there were no statistically significant differences in age, biochemical indices, immunological indicators, platelet count, cirrhosis proportion, and others. Ursodeoxycholic acid biochemical response rate was reduced in patients with past HBV infection at the end of one year of treatment, but the difference was not statistically significant (65.8% vs. 78.2%, P = 0.068). In addition, there were no statistically significant differences between the GLOBE score (0.57 vs. 0.59, P = 0.26) and UK-PBC 5-year (2.87% vs. 2.87%, P = 0.38), 10-year (9.29% vs. 8.2%, P = 0.39) and 15-year liver transplantation rates (16.6% vs. 14.73%, P = 0.39). Lastly, the overall 5-year liver transplantation-free survival rate had no statistically significant difference between the two groups of patients (86.4% vs. 87.5%, P = 0.796). Conclusion: Primary biliary cholangitis had no discernible effect in terms of age at onset, biochemical indices, immunological indicators, cirrhosis proportion, ursodeoxycholic acid response rate after one year, GLOBE score, UK-PBC score, or overall liver transplantation-free survival rate in patients with past hepatitis B virus infections.
摘要
Connective tissue disease (CTD) are closely related to liver abnormality. CTD can affect the liver causing various degrees of liver injury, coexist with other liver diseases, especially autoimmune liver disease (ALD). Medications for CTD can also lead to liver injury or reactivate the hepatitis B virus. CTD patients can also be positive for ALD-related autoantibodies without corresponding manifestation; and vis versa. The diagnosis and differential diagnosis should be made on integrating clinical presentation, laboratory, imaging, and histological studies, not solely relying on autoantibody positivity.
Subject(s)
Humans , Autoantibodies , Autoimmune Diseases/diagnosis , Connective Tissue Diseases/diagnosis , Diagnosis, Differential , Liver摘要
The liver is abundant in blood supply and receives 25% of the cardiac output via the hepatic artery and portal vein. Circulatory disorders may cause hepatic injury, resulting in congestive hepatopathy(CH) and ischemic hepatitis(IH). Hepatic congestion arising from increased hepatic venous pressure and decreased cardiac output is the common pathophysiological basis of both CH and IH. In addition, extensive arteriovenous shunts affect portal pressure and cardiac function, leading to alterations of hepatic blood supply. The current review summarizes the pathophysiology, clinical manifestations and therapeutic interventions of the above diseases, in order to provide reference for clinical practice.
Subject(s)
Humans , Cardiovascular Diseases , Hepatic Artery , Liver , Liver Diseases , Portal Pressure , Portal Vein摘要
OBJECTIVE@#To study the effect of intermittent versus daily inhalation of budesonide on pulmonary function and fractional exhaled nitric oxide (FeNO) in children with mild persistent asthma.@*METHODS@#A total of 120 children, aged 6-14 years, with mild persistent asthma who attended the hospital from January 2016 to January 2018 were enrolled. The children were divided into an intermittent inhalation group with 60 children (inhalation of budesonide 200 μg/day for 6 weeks when symptoms of asthma appeared) and a daily inhalation group with 60 children (continuous inhalation of budesonide 200 μg/day) by stratified randomization. The children were followed up at months 3, 6, 9, and 12 of treatment. The two groups were compared in terms of baseline data, changes in FeNO and pulmonary function parameters, amount of glucocorticoid used, number of asthma attacks, and asthma control.@*RESULTS@#At the start of treatment, there were no significant differences in baseline data, FeNO, and pulmonary function between the two groups (P>0.05). Over the time of treatment, FeNO gradually decreased and pulmonary function parameters were gradually improved in both groups (P0.05). Compared with the daily inhalation group, the intermittent inhalation group had a significantly lower amount of budesonide inhaled (P<0.05) and a significantly higher number of asthma attacks (P<0.05).@*CONCLUSIONS@#Intermittent inhalation and daily inhalation of budesonide can achieve the same level of asthma control in children with mild persistent asthma and both have no influence on the increases in body height and body weight. Daily inhalation of budesonide can produce a better efficiency in reduing FeNO and increasing FEV1%pred. Although intermittent inhalation can reduce the amount of glucocorticoid used, it may lead to a higher risk of asthma attacks.
Subject(s)
Adolescent , Child , Humans , Administration, Inhalation , Asthma , Drug Therapy , Budesonide , Therapeutic Uses , Forced Expiratory Volume , Nitric Oxide摘要
Circadian rhythm is an internal regulatory mechanism that allows organisms to adapt to circadian changes in the external environment, and can regulate the body's steady state by affecting the metabolic pathways of multiple organs. When exogenous factors such as eating time, worktime changes, and sleep disturbances cause the body's circadian rhythm to be disrupted, the risk of developing metabolic syndrome is significantly increased. This article explores the relationship between circadian rhythm and body metabolism and summarizes the molecular mechanisms by which circadian rhythm regulates the digestive system, liver and bile acid production, and kidney function. We review research progress on intervention in the circadian rhythm by traditional Chinese medicine and provide a reasonable and valuable basis for follow-up studies on the role of traditional Chinese medicine in research on the molecular mechanisms of regulation of circadian rhythm.
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Objective To investigate the seroprevalence of Toxoplasma gondii infection in patients with gynecological malignant tumors, so as to provide the evidence for the control of T. gondii infections in the patients with gynecological malignant tumors. Methods A total of 327 patients with gynecological malignant tumors were recruited, and 200 women with normal healthy examinations were served as controls. The serum anti-T. gondii IgG and IgM antibodies were detected by using ELISA, and the seroprevalence was compared between the patients and controls, and among various types of cancers. Results The overall seroprevalence of T. gondii was 26.91% (88/327) in the patients with gynecological malignant tumors, which was significantly higher than that (5.00%) in the healthy volunteers (χ2 = 39.36, P<0.01) . The prevalence of anti-T. gondii IgG antibody in the cancer patients was significantly higher than that in the controls (26.30% vs. 5.00%; χ2 = 37.79, P<0.01), while the prevalence of anti-T. gondii IgM antibody in the cancer patients was not significantly different from that in the controls (0.92% vs. 0; corrected χ2 = 0.58, P > 0.01) . The positive rates of anti-T. gondii IgG antibody were 27.68%, 25.47% and 25.69% in ovarian cancer, cervical cancer, and breast cancer patients respectively, which were all significantly higher than those in the controls (χ2 = 32.35, 27.32 and 28.00; all P values<0.01); however, there was no significant difference among the various types of cancer patients in the positive rates of anti-T. gondii IgG antibody (χ2 = 0.17, P > 0.05) . In addition, the positive rates of anti-T. gondii IgM antibody were 1.79%, 0 and 0.92% in ovarian cancer, cervical cancer and breast cancer patients respectively, which was not significantly different from those in the controls (all P values > 0.05). Conclusions The seroprevalence of T. gondii infection is high in the patients with gynecological malignant tumors. It is suggested that the prevention and control of T. gondii infection should be strengthened in these patients.
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OBJECTIVE@#To summarize and analyze the etiology, clinical manifestations and imaging features of children with cerebral infarction.@*METHODS@#A retrospective analysis was performed for the clinical data of 54 children with cerebral infarction, including etiology, clinical manifestations, distribution of infarcts, type of infarcts and clinical outcome.@*RESULTS@#Of the 54 children, 93% had a clear cause, among whom 46% had the coexistence of multiple factors, and the top three causes were infection (54%), vascular disease (40%) and trauma (26%). Major clinical manifestations included limb paralysis (85%), pyrexia (20%), disturbance of consciousness (19%) and convulsion (17%). As for the location of infarcts, 80% of the infarcts were located in the cerebral cortex and 52% in the basal ganglia. Major types of infarcts were small-area infarcts (74%) and multifocal infarcts (56%). Viral encephalitis was the most common cause of cerebral infarction caused by infection, with the cerebral cortex as the most common location of infarcts (21/23, 91%) and multiple infarcts as the most common type of infarcts (13/23, 57%). Among the 12 children with cerebral infarction caused by nonspecific endarteritis, 10 (83%) had infarcts located in the basal ganglia and only one child had multiple infarcts. Among the five children with cerebral infarction caused by moyamoya disease, four children (80%) had infarcts located in the cerebral cortex, and large-area infarction (4/5, 80%) and multifocal infarction (4/5, 80%) were the major types of infarcts. Among the children with traumatic cerebral infarcts, 92% had infarcts located in the basal ganglia, and small-area infarcts (92%) and single infarcts (85%) were the major types of infarcts. Among the 46 children with limb paralysis, 34 (74%) had infarcts located in the basal ganglia; 50% of the children with disturbance of consciousness had infarcts located in the basal ganglia. Subcortical infarcts were observed in all six children with epilepsy. Seventy-five percent of the infarcts located in the cerebral cortex and 87% of the infarcts located in the basal ganglia had a good prognosis. Among the two children with cerebral infarcts located in the brainstem, one had the sequela of hemiplegia and the other had the sequela of cognitive impairment. Eighty-eight percent of the children with cerebral infarction caused by infection and 82% of the children with traumatic cerebral infarction tended to have a good prognosis, and 83% of the children with cerebral infarction caused by nonspecific endarteritis had good prognosis. Recurrence was observed in all three children with cerebral infarction caused by vascular malformations. Of the five children with cerebral infarction caused by moyamoya disease, one child died and four children survived with the sequela of localized brain atrophy, among whom one child also had the sequela of epilepsy.@*CONCLUSIONS@#Infection, vascular disease and trauma are the most common causes of cerebral infarction in children, and limb paralysis is the most common clinical manifestation. Cerebral cortex is the most common infarct site, and small-area infarcts and multifocal infarcts are the most common types of infarcts, which tend to have a better prognosis.
Subject(s)
Child , Humans , Basal Ganglia , Cerebral Cortex , Cerebral Infarction , Magnetic Resonance Imaging , Recurrence , Retrospective Studies摘要
Objective To investigate the therapeutic effects of penetrating resin and fluoride on early enamel caries. Methods Sixty intact bovine incisors were immersed in demineralized solution for 24 hours to make bovine incisor enamel caries.The specimens were divided into four groups(n=15 for each group)according to the treatment methods:control group (CON)-immersion in artificial saliva, DF group-immersion in 0.05% fluoride solution daily, WF group-2% fluoride gel weekly and IC group-resin infiltration.After processing for four and eighe weeks,the microhardness of the surface of each group was measured.After the treatment for four weeks,the depth of penetration and the microhardness of the samples were measured. After 8-week treatment, all samples were reintroduced into the demineralized solution for 24 hours and the microhardness of the samples was measured again.Results Results of microhardness assessment showed that there were no significant differences in baseline values(after white spots)between four groups(P>0.05).After treatment for four weeks the microhardness value reached the peak in IC group. After treatment for eight weeks the microhardness values reached the peak in DF group and WF group.The values of microhardness were significantly higher at different time points in IC group than those of other groups(P<0.05).After 4-week treatment,the percentages of penetration depth were significantly higher in DF,WF and IC groups than those of control group(P<0.01).The penetration depth was significantly higher in IC group than that of DF group and WF group (P<0.05). There was no significant difference in the penetration depth between DF group and WF group(P>0.05).Conclusion For the early enamel caries penetration resin,the penetration percentage is significantly higher than the fluoride treatment.
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Objective To evaluate the accuracy and validity of Toric intraocular lens (IOL) alignment by VERION image guided system.Methods In this retrospective study,75 eyes of 75 patients who underwent phacomulsification combined with Toric IOL implantation were enrolled from June 2016 to May 2017.Before operation,anterior segment images of all patients were collected using VERION image guided system,and target axis of IOL implantation was set.Horizontal axis was marked using 1 mL syringe needle under the slit lamp.During the procedures,the IOL was implanted referring to the target axis under VERION system or the slit lamp randomly,and there were 42 eyes with IOL implantation guided by VERION system (VERION group),and 33 eyes guided by slit lamp (slit lamp group).The best corrected visual acuity (BCVA) of each patient was recorded at day 1,1 week,1 month,and 3 months after operation.Anterior segment images were taken after mydriasis,and all the images were analyzed by Photoshop software.Finally,the BCVA at various time points after operation and the deviation value of actual axis and target axis was compared in both groups.Results The proportion of eyes with BCVA ≥ 0.8 at day 1,1 week,1 month,and 3 months after operation was 61.9%,78.6%,71.4% and 76.2% in VERION group,respectively,and 69.7%,78.8%,81.8% and 75.8% in slit lamp group,respectively,and there was no statistical significance between VERION group and slit lamp group (all P > 0.05).The difference value of target axis marked by VERION system and by slit lamp was (3.04 ± 1.99) °.No significant differences were seen in the IOL actual axis and target axis between the two groups at various time points (all P > 0.05).Conclusion It is accurate and stable of VERION image guided system for toric IOL axis marking.
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<p><b>OBJECTIVE</b>To explore the predictive value of cord blood 25(OH)D [25(OH)D] for infantile atopic dermatitis (AD), and to provide a reference for primary prevention of early infantile AD.</p><p><b>METHODS</b>The neonates born from July to September, 2015 were enrolled. The cord blood samples were collected at birth to measure the level of 25(OH)D. Outpatient follow-up was conducted for all the infants at 6 weeks, 3 months, and 6 months after birth. A survey was performed to investigate the incidence of AD.</p><p><b>RESULTS</b>A total of 67 neonates completed a 6-month follow-up. The incidence of AD was 34% (23/67), and 91% (21/23) of these cases occurred in the first month after birth. The 23 AD children had a significantly lower cord 25(OH)D level than those without AD (P<0.05). The children with a cord 25(OH)D level <30 nmol/L showed a significantly higher incidence of AD than those with a cord 25(OH)D level ≥30 nmol/L (P<0.05). The receiver operating characteristic (ROC) analysis showed that the area under the ROC curve of cord 25(OH)D in predicting AD was 0.648 (standard error: 0.075; 95%CI: 0.502-0.795). Its sensitivity, specificity, positive predictive value, and negative predictive value were 52.2%, 79.5%, 57.1%, and 76.1%, respectively. Logistic regression analysis showed that low cord 25(OH)D level, preference for seafood during pregnancy, atopic family history, and mixed feeding were risk factors for infantile AD (P<0.05).</p><p><b>CONCLUSIONS</b>Cord 25(OH)D level is inversely associated with the risk of infantile AD, but it has a low diagnostic value for this disease.</p>
Subject(s)
Female , Humans , Infant, Newborn , Male , Calcifediol , Blood , Dermatitis, Atopic , Blood , Epidemiology , Fetal Blood , Chemistry , Logistic Models , Predictive Value of Tests , ROC Curve , Risk Factors摘要
Objective To investigate the seroprevalence of Toxoplasma gondii infection in patients with gynecological malignant tumors, so as to provide the evidence for the control of T. gondii infections in the patients with gynecological malignant tumors. Methods A total of 327 patients with gynecological malignant tumors were recruited, and 200 women with normal healthy examinations were served as controls. The serum anti-T. gondii IgG and IgM antibodies were detected by using ELISA, and the seroprevalence was compared between the patients and controls, and among various types of cancers. Results The overall seroprevalence of T. gondii was 26.91% (88/327) in the patients with gynecological malignant tumors, which was significantly higher than that (5.00%) in the healthy volunteers (χ2 = 39.36, P<0.01) . The prevalence of anti-T. gondii IgG antibody in the cancer patients was significantly higher than that in the controls (26.30% vs. 5.00%; χ2 = 37.79, P<0.01), while the prevalence of anti-T. gondii IgM antibody in the cancer patients was not significantly different from that in the controls (0.92% vs. 0; corrected χ2 = 0.58, P > 0.01) . The positive rates of anti-T. gondii IgG antibody were 27.68%, 25.47% and 25.69% in ovarian cancer, cervical cancer, and breast cancer patients respectively, which were all significantly higher than those in the controls (χ2 = 32.35, 27.32 and 28.00; all P values<0.01); however, there was no significant difference among the various types of cancer patients in the positive rates of anti-T. gondii IgG antibody (χ2 = 0.17, P > 0.05) . In addition, the positive rates of anti-T. gondii IgM antibody were 1.79%, 0 and 0.92% in ovarian cancer, cervical cancer and breast cancer patients respectively, which was not significantly different from those in the controls (all P values > 0.05). Conclusions The seroprevalence of T. gondii infection is high in the patients with gynecological malignant tumors. It is suggested that the prevention and control of T. gondii infection should be strengthened in these patients.
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<p><b>OBJECTIVE</b>To investigate the antipyretic mechanism of Herba Ephedrae (Eph)-Ramulus Cinnamomi (RC) herb pair on yeast-induced pyrexia in rats.</p><p><b>METHODS</b>Totally 30 qualified male SD rats were randomly assigned to the normal control (NC) group, the pyrexia model (model) group, the Eph, RC and Eph-RC treatment groups by a random digital table, 6 rats in each group. Each rat received a 20% aqueous suspension of yeast (10 mL/kg) except the NC group. The 3 treatment groups were administered 8.1, 5.4 and 13.5 g/kg Eph, RC and Eph-RC respectively at 5 and 12 h after yeast injection, the NC group and the model groups were administered equal volume of distilled water. Rectal temperatures were measured at 0, 6, 8, 10, 12, 15, 18, 24 and 30 h and urine was collected prior to yeast injection and at 6, 10, 18, 24, 30, and 36 h after yeast injection. Then urine metabolomic profiling by gas chromatography tandem mass spectrometry, coupled with multivariate statistical analysis and pattern recognition techniques were used to explore the antipyretic effects of Eph-RC. Partial least squares discriminate analysis was used to analyze the metabolomics dataset including classification and regression in metabolomics plot profiling.</p><p><b>RESULTS</b>Compared with the NC group, rectal temperatures were significantly higher in the model group (P<0.01), while 3 treatment groups decreased significantly compared with the model group (P<0.05 or P<0.01). Rectal temperatures of Eph-RC-treated rats started to go down at 6 h, and markedly decreased at 8, 12, 15, 18 and 24 h (P<0.05 or P<0.01), while those of the Eph and RC groups had decreased firstly at 8 h and were markedly lower at 12 h (P<0.05 or P<0.01). Seventeen potential biomarkers related to pyrexia were confirmed and identified, including pyruvic acid, L-phenylalanine, L-tyrosine, phenylacetic acid, hippuric acid, succinic acid, citrate and so on. Eight potential alterations of metabolic pathways including phenylalanine metabolism, citrate cycle, tryptophan metabolism, biosynthesis of valine, leucine and isoleucine, were identified in relation to the antipyretic effects of Eph-RC using MetPA software.</p><p><b>CONCLUSION</b>The antipyretic effect of Eph-RC herb pair on yeast-induced pyrexia in rats involved correction of perturbed amino acid, fatty acid, and carbohydrate metabolism according to the metabolic pathway analysis with MetPA.</p>
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An 82-year patient presented with nausea, coffee-ground emesis, melena and hematochezia on July 10, 2011. The patient received blood transfusion on July 11, and continued to bleed from July 12 to 17. The patient underwent upper gastrointestinal endoscopy on July 16. There were no abnormalities in the esophagus, stomach and duodenum. Then the patient presented with shortness of breath, extreme fear, fatigue, hypotension, sweating, and cold limbs. Dopamine, as well as pressurised infusion of packed red blood cells and fresh frozen plasma were given to the patient to maintain blood pressure. CT angiography [CTA] revealed no aortic fistula, and enteroscopy revealed active bleeding in the vicinity of the ligament of Treitz. The retrograde exploration of gastroscopy revealed a 5×4 cm diverticulum on the posterior wall of the duodenum under the ligament of Treitz. Active bleeding of the small artery in the diverticulum was observed via incision of the duodenal wall, and the diverticulum was isolated. Hemostasis was achieved after ligation of blood vessels, and diverticulectomy was performed. Enteroscopy is important for the diagnosis of duodenal and upper small intestinal diseases. Repeated endoscopic exploration of multiple sites in the small intestine revealed the cause of the bleeding. The multidisciplinary team finally found the cause of the bleeding and its proper management
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<p><b>Objective</b>To determine the zinc levels in the expressed prostatic secretion (EPS) of the patients with different types of chronic nonbacterial prostatitis, and explore the reference value of zinc concentration in EPS in the diagnosis and treatment of prostatitis.</p><p><b>METHODS</b>We collected EPS samples from 35 healthy men and 173 patients with chronic nonbacterial prostatitis, including 65 cases of type ⅢA, 69 cases of type ⅢB, and 39 cases of type Ⅳ, according to the National Institutes of Health Chronic Prostatitis Symptom Index (NIH-CPSI). We compared the zinc levels in the EPS samples among different groups and analyzed the correlations of zinc concentration with the NIH-CPSI scores, WBC count, pH value, and age of the subjects.</p><p><b>RESULTS</b>The participants were aged 17-65 (32.5±8.5) years. The zinc concentrations in the EPS were significantly lower in the ⅢA ([162.2±10.8] μg/ml) and ⅢB ([171.2±12.0] μg/ml) than in the Ⅳ ([234.6±17.9] μg/ml) (P<0.05 ) and the control group ([259.5±14.6] μg/ml) (P<0.05 ). The zinc level was correlated negatively with the NIH-CPSI pain score (r=-0.248, P<0.01), quality of life score (r=-0.232, P<0.01), severity score (r=-0.270, P<0.01), total NIH-CPSI score (r=-0.281, P<0.01), and the pH value in EPS (r=-0.208, P<0.01), but showed no correlation with the WBC count and age of the subjects.</p><p><b>CONCLUSIONS</b>The reduced zinc concentration in the EPS of the patients with chronic nonbacterial prostatitis may be associated with the pain symptoms of the disease, which suggests the potential reference value of measuring the zinc concentration in EPS in the diagnosis and treatment of prostatitis.</p>
Subject(s)
Adolescent , Adult , Aged , Humans , Male , Middle Aged , Young Adult , Chronic Disease , Pain , Metabolism , Prostatitis , Metabolism , Quality of Life , Zinc , Metabolism摘要
Background: Creatine transporter (CRTR) deficiency is the most common creatine deficiency syndrome, of which the final diagnosis relies on mutation in the X-linked CRTR gene. To date, more than 90 mutations in the SLC6A8 gene have been reported. This paper discusses a novel mutation detected via the thorough sequencing of all the X-chromosome-specific exons investigated in a four and a half year old boy with an intellectual disability, speech and language delay and motor disturbance. Methods: A brain magnetic resonance imaging (MRI) and a proton magnetic resonance spectroscopy (MRS) were carried out, the creatine and creatinine concentrations in the urine were checked and all exons were sequenced. Results: A detailed clinical investigation revealed a reduction in the cerebral creatine levels in the brain by the MRS, elevated creatine and creatinine concentrations in the urine and signal abnormalities in the left frontal cortex of the brain by the MRI. A novel change was identified in the heterozygosity of the exon 10: c.1395-c.1401 deletion. Conclusion: The use of a combination of powerful new technologies, such as thorough exome-nextgeneration sequencing and a brain MRS, should be considered, in order to determine any neurometabolic diseases, especially when the signal abnormalities in the brain MRI cannot be explained by any other factors. This mutation results most likely in a dysfunction of the creatine transport and synthesis, hence causing central nervous system symptoms.
Subject(s)
Carrier Proteins摘要
OBJECTIVE: To observe the effects of curcumin on the protein and mRNA expression of osteopontin (OPIN) in asthmatic airway remodeling rats. METHODS: Twenty-four SD rats were randomly divided into 3 groups; normal control group (N group), asthma group (A group) and curcumin group (C group), with each 8 rats. The asthmatic airway remodeling model was established by sensitization and challenge with ovalbumin (OVA). The total brochial wall thickness (Wat) and the brachial smooth muscle thickness (Warn) were measured by image analysis system. The protein expression of OPN in lung homogenats were detected by immunohisto-chemistry (IHC) and the mRNA expression measured by reverse transcription-polymerase chain reaction (RT-PCR). Besides, correlative analysis between Warn/Wat and the expression of OPN was studied. RESULTS: Wat and Warn of asthma group were significant higher than those of normal control group. Compared with asthma group, those of curcumin group were significant lower (P<0.01, respectively). The protein expression of OPN detected by IHC in asthma group were significant higher than those in normal control group. Compared with asthma group, those in curcumin group were significant lower (P<0.01, respectively). The mRNA expression of OPN detected by RT-PCR in asthma group were significant higher than those of normal control group. Compared with asthma group, those in curcumin group were significant lower (P<0.01, respectively). There was significantly positive correlation between Wat and the protein/mRNA expression of OPN, also between Warn and the protein/mRNA expression of OPN. CONCLUSION: Curcumin may inhibit asthmatic rat airway remodeling partly through the down regulation of OPN.
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<p><b>OBJECTIVE</b>To explore the association of the androgenic receptor (AR) CAG repeats with the risks of benign prostatic hyperplasia (BPH) and prostate cancer (PCa).</p><p><b>METHODS</b>We searched the major databases at home and abroad for the literature addressing the correlation of the AR gene CAG repeats with BPH and PCa. Based on the results of heterogeneity tests, we used the M-H fixed effect model and random effect model to pool the odds ratio (OR) effect size. We evaluated publication bias by Begg and Egger bias analysis, investigated the association of CAG repeats with the risks of BPH and PCa by systematic review, and stratified their relationship according to the races of the patients.</p><p><b>RESULTS</b>Based on the selection criteria, 4 of the 29 identified studies were included, with 485 cases of BPH, 767 cases of PCa, and 709 controls. There was no heterogeneity between the BPH and control groups, and no correlation between short CAG repeats and BPH after pooling the odds ratio (OR) effect size. Heterogeneity was found among the BPH, PCa and control groups. Random effects model suggested an association of short CAG repeats with the risk of PCa (OR(PCa/control) = 1.45, OR(PCa/BPH) = 1.86, OR(PCa/(BPH + control)) = 1.66), while subgroup analysis with racial stratification indicated inter-ethnic differences between the two. Begg and Egger bias analysis showed no significant publication bias.</p><p><b>CONCLUSION</b>Shorter CAG repeats are positively correlated with the risk of PCa but not with that of BPH.</p>
Subject(s)
Humans , Male , Polymorphism, Genetic , Prostatic Hyperplasia , Genetics , Prostatic Neoplasms , Genetics , Receptors, Androgen , Genetics , Trinucleotide Repeats摘要
<p><b>OBJECTIVE</b>Despite substantial research efforts worldwide, the role of inflammatory cytokine IL-1β in the onset of febrile seizures (FS) remains controversial. The aim of this study was to assess the relationship between rs16944 polymorphism of the IL-1β-511T gene and occurrence of simple FS in a sample of Han children in northern China.</p><p><b>METHODS</b>The IL-1β-511T gene rs16944 was genotyped by SNaPshot SNP technique in 141 FS children and 130 healthy control subjects. The genotypic and allelic frequencies in the two groups were comparatively analyzed.</p><p><b>RESULTS</b>There were no significant differences in genotypic and allelic frequencies of rs16944 polymorphism of the IL-1β-511T gene between FS patients and control subjects (P>0.05).When the clinical data on A/A, A/G and G/G genotypes of the rs16944 polymorphism in FS patients, there was statistically significant difference in age of first onset (χ(2)=19.491, P<0.01), temperature of first onset (χ(2)=9.317, P<0.05) and family history of FS (χ(2)=26.798, P<0.01).</p><p><b>CONCLUSIONS</b>There is no association between rs16944 polymorphism of the IL-1β-511T gene and the incidence of FS in Han children in Northern China. However, the differences in genotypes of this polymorphism might be associated with pathogenesis and prognosis of simple FS in the population studied.</p>
Subject(s)
Child, Preschool , Female , Humans , Infant , Male , China , Ethnology , Interleukin-1beta , Genetics , Polymorphism, Single Nucleotide , Seizures, Febrile , Genetics摘要
This study was aimed to investigate the expression of microRNA-21 and its correlation with PTEN in diffuse large B cell lymphoma (DLBCL) paraffin-embedded tissues, and evaluate its potential relevance with clinical characteristics. The expression levels of miR-21 in 26 primary DLBCL and 10 normal lymph node tissue specimens were examined by real-time polymerase chain reaction. The expression of PTEN was detected by immunohistochemical staining. The results indicated that the expression of miR-21 was significantly higher in tumor tissues [6.586(1.10,38.22)] than that in normal tissues [0.791 (0.35,2.87)] (P < 0.05). Among 26 patients with DLBCL the expression of PTEN protein was positive in 6 patients (23%), and was negative in 20 patients (77%). In patients with DLBCL, the expression level of miR-21 was negatively correlated with the level of PTEN protein. The high expression of miR-21 was positively correlated with the level of serum LDH. The expression level of miR-21 in patients with Ann Arbor III-IV stage was obviously higher than that of patients with Ann Arbor I-II stage, but did not correlate with the subtype of patients in clinic (P > 0.05). It is concluded that the expression of miR-21 is high in DLBCL and its overexpression may be related with poor prognosis of DLCBL. These findings suggest that PTEN is possibly one of the targets of miR-21 in DLBCL.