We hereby reported the clinical manifestations and genetic diagnosis of a rare case of congenital adrenal hyperplasia (CAH) caused by cytochrome P450 oxidoreductase ( POR ) gene mutation. The case was an 11-year-old girl presented with craniofacial and skeletal malformation such as a depressed nasal bridge, radiohumeral synostosis and camptodactyly in feet. Moreover, she was diagnosed with ambiguous genitalia, and her mother had obvious masculine features during pregnancy. Laboratory tests showed that the levels of peripheral blood progesterone, 17-hydroxyprogesterone and adrenocorticotrophic hormone (ACTH) had increased significantly, which were consistent with the symptom of CAH. Genetic testing revealed a complex heterozygous mutation in POR gene of maternally inherited c.744C>G (p.Tyr248Ter) and paternal inherited c.1370G>A (p.Arg457His). Therefore, she was diagnosed with cytochrome P450 oxidoreductase deficiency (PORD), which is a rare type of CAH. The patient received oral glucocorticoid therapy and underwent knee arthroplasty.

Objective To assess the value of CT perfusion imaging in differentiation of mild from moderate liver fibrosis .Methods 18 patients with mild liver fibrosis (F1 phase) and 21 ones with moderate fibrosis (F2 and F3 phase) confirmed by liver biopsy were analyzed ,and all patients underwent the liver 256‐slice CT perfusion imaging .The differences in the CT parameters including hepatic arterial perfusion (HAP) ,portal venous perfusion (PVP) ,total liver perfusion (TLP) and time to peak (TTP) between dif‐ferent fibrosis were analyzed .ROC curve was used to evaluate the ability of perfusion indexes to distinguish mild from moderate liver fibrosis ,then the maximum Youden index was selected as a cutoff point to calculate the sensitivity and specificity .Results Compared with the mild fibrosis ,the TTP [(43 .86 ± 13 .41)s vs (37 .84 ± 9 .97)s ,P=0 .034)] in liver with moderate fibrosis was significantly increased .However ,no differences in the HAP ,PVP and TLP were found .The ROC curve analysis showed that a TTP threshold of 41 .7 s allowed discrimination of mild from moderate fibrosis with a sensitivity of 72 .7% and a specificity of 75% .Conclusion 256‐slice CT perfusion imaging can reflect the hemodynamic changes of liver fibrosis ,and the TTP may help to discriminate mild from moderate fibrosis .

Objective To observe the therapeutic effect of rhubarb combined with Probiotics for treatment of patients with severe acute pancreatitis (SAP) accompanied by acute lung injury (ALI). Methods A prospective randomized controlled trial was conducted. Sixty patients with SAP and ALI were randomly divided into a rhubarb group and a combination of rhubarb and Probiotics group (combined group), 30 cases in each group. Both groups were treated with conventional therapy. On that therapeutic base, the patients in rhubarb group were treated with rhubarb 3 g·kg-1·d-1 (Raw rhubarb in boiling water 200 mL was cooked for 30 minutes, then the decoction was divided into two parts to be infused through nasal jejunal tube, retaining for 1 hour);while in the combined group, beside the above rhubarb therapy, the patients were additionally given Probiotics [Clostridium butyric acid:Chang Lekang capsule, once 1 grain (0.42 g), twice a day] through nasal jejunal tube. The therapeutic course was 14 days in the two groups. The plasma endotoxin levels, oxygenation index, and acute physiology and chronic health evaluationⅡ(APACHEⅡ) score were observed before and after treatment for 7 days and 14 days, respectively. After treatment for 30 days, the time of intestine functional recovery and mechanical ventilation, number of damaged organs, number of infectious sites, number of pancreatic pseudocysts, length of intensive care unit (ICU) stay and 30-day fatality rate were observed in the two groups. Results With the prolongation of treatment, the plasma level of endotoxin and APACHEⅡscore in the two groups were gradually reduced, and the oxygenation index was gradually increased after treatment for 7 days and 14 days in the two groups compared with those before treatment, and there were statistically significant differences in above indexes on the 14th day after treatment between combined group and rhubarb group [endotoxin (μg/L): 19.16±1.90 vs. 21.20±1.05, oxygenation index (mmHg, 1 mmHg = 0.133 kPa): 369.50±5.45 vs. 341.50±7.36, APACHE Ⅱscore:11.84±0.60 vs. 13.00±0.86, P<0.05 or P<0.01]. The length of intestine functional recovery in the combined group was longer than that in the rhubarb group (days: 5.63±1.75 vs. 5.02±1.54), the number of damaged organs (2.08±0.74 vs. 2.70±1.11), the number of infectious sites (1.93±0.64 vs. 2.23±0.83), the number of pancreatic pseudocysts (1.22±0.34 vs. 1.63±0.11) and the mortality rate [10.0%(3/30) vs. 13.3%(4/30)] in the combined group were lower than those of the rhubarb group, but there were no statistically significant differences between two groups (all P > 0.05). The times of mechanical ventilation (days: 13.40±1.76 vs. 15.60±1.28) and the length of ICU stay (days:16.13±1.25 vs. 17.63±1.30) were significantly shorter in combined group than those in rhubarb group (both P<0.05). Conclusion Rhubarb combined with Probiotics for treatment of patients with SAP and ALI can promote their recovery of lung function and shorten their length of ICU stay.

BACKGROUND:Numerous studies have shown that air wave pressure therapy plays an important role in prevention of deep venous thrombosis of lower limb after a major operation on the hip.
OBJECTIVE:To explore the efficacy of air wave pressure therapy on deep vein thrombosis of the lower extremity in patients with total knee arthroplasty.
METHODS:A total of 80 patients with total knee arthroplasty were randomly divided into experimental group and control group. Patients in the control group were treated only with conventional method to help the patient massage the lower extremity by the nurse and combined with active functional exercise;patients in the experimental group were treated with air wave pressure therapy at 2 days postoperatively, and were also treated with conventional method to help the patient massage the lower extremity by the nurse and combined with active functional exercise. Swel ing index, coagulation index and the number of patients with deep venous thrombosis of the lower extremity were recorded in both groups.
RESULTS AND CONCLUSION:At 2 weeks after treatment, swel ing index, coagulation index and the number of patients with deep venous thrombosis of the lower extremity were significantly reduced in the experimental group, and its effects were significantly better than those in the control group (P<0.05). Early use of air wave pressure therapy after total knee arthroplasty can al eviate limb swel ing effectively and have obvious advantages in improving coagulation index and blood coagulation condition and in preventing deep vein thrombosis of the lower extremity after total knee arthroplasty.

Esophageal Neoplasms ; pathology ; therapy ; Hemangiosarcoma ; pathology ; therapy ; Humans ; Male ; Middle Aged

BACKGROUNDGambogic acid is a pure active compound isolated from the traditional Chinese medicinal plant gamboge (Garcinia morella Desv.). Based on the preliminary results of a phase I study, this phase IIa study compared the efficacy and safety of different dosage schedules of gambogic acid in patients with advanced malignant tumors.

METHODSPatients with advanced or metastases cancer who had not received any effective routine conventional treatment or who had failed to respond to the existing conventional treatment were randomly assigned to receive either 45 mg/m(2) gambogic acid intravenously from Days 1 to 5 of a 2-week cycle (Group A), or 45 mg/m(2) every other day for a total of five times during a 2-week cycle (Group B). The primary endpoint was objective response rate (ORR).

RESULTSTwenty-one patients assigned to Group A and 26 to Group B were included in the final analysis. The ORRs were 14.3% in Group A and 0% in Group B. It was not possible to analyze the significant difference because one of the values was zero. The disease control rates (DCRs) were 76.2% in Group A and 61.5% in Group B (P = 0.0456). The observed adverse reactions were mostly Grades I and II, and occurred in most patients after administration of the trial drug. There was no significant difference in the incidence of adverse reactions between the two arms.

CONCLUSIONSThe preliminary results of this phase IIa exploratory study suggest that gambogic acid has a favorable safety profile when administered at 45 mg/m(2). The DCR was greater in patients receiving gambogic acid on Days 1 - 5 of a 2-week cycle, but the incidence of adverse reactions was similar irrespective of the administration schedule.

Adult ; Aged ; Antineoplastic Agents, Phytogenic ; administration & dosage ; Female ; Humans ; Injections ; Male ; Middle Aged ; Neoplasms ; drug therapy ; Xanthones ; administration & dosage ; adverse effects

OBJECTIVETo identify the gene mutation for two Chinese families with autosomal dominant non-syndromic hearing impairment(NSHI).

METHODSTwo NSHI pedigrees with common ancestor were identified by clinical examination and family investigation. Linkage analysis was performed for all known NSHI loci, and all exons and exon-intron boundaries of the non-muscle myosin heavy chain 14 (MYH14) gene were amplified by PCR and sequenced.

RESULTSThe disease-causing gene of these 2 pedigrees was fine mapped to the DFNA4 locus on 19q13.33. A heterozygous transition of c. 359T>C (p.S120L) in MYH14 gene was identified. The mutation was detected in all patients but not in normal members in the two families.

CONCLUSIONIt is the first report that mutation in MYH14 gene can cause dominant non-syndromic hearing impairment in Asian population, suggesting that MYH14 gene can be a disease-causing gene of Chinese patients with hearing impairment.

Female ; Hearing Loss ; genetics ; Humans ; Male ; Microsatellite Repeats ; genetics ; Mutation ; Myosin Heavy Chains ; genetics ; Myosin Type II ; genetics ; Pedigree ; Polymerase Chain Reaction

OBJECTIVETo investigate the effect of chronic enhanced external counterpulastion (EECP) on gene expression profiles of arterial endothelial cells (ECs) of pigs fed with high-cholesterol diet.

METHODSEight male pigs were fed with high-cholesterol diet for 12 weeks to induce arteriosclerosis and subjected to EECP for accumulative 36 h (2 h every other day for 18 sessions). Another 8 pigs on cholesterol-enriched diet and 6 normally fed pigs served as the arteriosclerosis model group and normal control group, respectively, and the high-cholesterol diet was maintained until the end of EECP treatment. The coronary artery was then isolated for transmission electro microscopy, and the abdominal aorta was observed using Sudan III staining. The gene expression profiles in ECs from the thoracic aorta using cDNA microarrays.

RESULTSMacrophages and foam cells were detected beneath the ECs in the coronary artery of pigs in the model group, but not in the other two groups. The ratios of Sudan III-positive area in the celiac aorta were significantly lower in normal control and EECP groups than in the model control group (P<0.05). Compared with the normal control group, the gene expressions of integrins-beta1 and CTGF were up-regulated in the model group. Compared with the model group, the expressions of integrins-beta1, CTGF and VCAM-1 were down-regulated and eNOS up-regulated in EECP group.

CONCLUSIONChronic EECP may reduce endothelial injury, down-regulate the gene expression level of integrin-beta1, CTGF and VCAM-1, lower cholesterol uptake and attenuate arterial endothelial inflammation to protect the pigs fed with high-cholesterol diet from arteriosclerosis.

Animals ; Aorta, Abdominal ; metabolism ; pathology ; Arteriosclerosis ; etiology ; genetics ; pathology ; Coronary Vessels ; metabolism ; pathology ; Counterpulsation ; methods ; Diet, Atherogenic ; Endothelial Cells ; metabolism ; Gene Expression Profiling ; Male ; Oligonucleotide Array Sequence Analysis ; methods ; Swine

OBJECTIVETo identify the type of the intermediate filament (IF) protein of Angiostrongylus cantonensis and analyze its tissue localization.

METHODSRecombinant pET-IF of antigen IF was expressed in E.coli with IPTG induction, and the expression products were purified by His.Bind column and identified for determining the type of the IF protein by Western blotting. Anti-IF antibody was prepared by multi-spot subcutaneous injection into mouse and used to detect the tissue slices of A. cantonensis by immunohistochemical analysis.

RESULTSThe antigen IF were correctly expressed and purified, and identified as a keratin located in the intestine wall and cytoplusma.

CONCLUSIONThe antigen IF is distributed in the intestine wall of A. cantonensis.

Angiostrongylus cantonensis ; cytology ; metabolism ; Animals ; Cell Nucleus ; metabolism ; Electrophoresis, Polyacrylamide Gel ; Intermediate Filament Proteins ; classification ; genetics ; isolation & purification ; metabolism ; Protein Transport

OBJECTIVETo ascertain the causation of a family cluster involving two undefined pneumonia cases, a 12-year-old girl and her brother, reported October, 2005 in Xiangtan county, Hunan province.

METHODSInformation on epidemiology and clinical manifestation of the cases was collected from interviewing the keyman and referring to related medical records. The environment exposure of the cases to their households and the timeline of the illness were reproduced, using this information. Medical check-up was undergone among the close contacts of the cases and on sick/dead poultry. Throat swab of the cases were collected and tested by both RT-PCR and real-time PCR to detect viral nucleic acids of A/H5N1, and were then inoculated into special pathogen free (SPF) embryonated hens' eggs. Serum of the cases including acute and convalescent phases were also collected and tested by microneutralization and haemagglutination-inhibition (HI) assays to detect H5-specific antibodies.

RESULTSBoth the girl and her brother developed fever 2 and 4 days after sudden deaths of chickens being raised in the same house. Both of them had developed pneumonia and the girl died from acute respiratory distress syndrome (ARDS) complicated with multi-organ failure. The boy survived and subsequently discharged from hospital. An eighth-day serum from the girl tested H5 antibody negative, while 4-fold and greater increased in antibody titers were detected in serum from the boy using microneutralization and HI assays in sequential acute and convalescent sera. Of 192 cases, only one doctor who cared for the girl during hospitalization had upper respiratory symptoms but tested negative for H5N1 by microneutralization assay.

CONCLUSIONThe boy was the first confirmed human case of avian influenza A (H5N1) in the mainland of China and his sister was diagnosed clinically. The most probable explanation of these two cases was that the transmission of H5N1 virus from infected poultry within the same household environment. No evidence of human-to-human transmission was noted in the family cluster.

Animals ; Chickens ; Child ; China ; Fatal Outcome ; Female ; Humans ; Influenza A Virus, H5N1 Subtype ; immunology ; isolation & purification ; Influenza in Birds ; transmission ; Influenza, Human ; complications ; diagnosis ; transmission ; Male ; Pneumonia ; virology ; Respiratory Distress Syndrome, Adult ; virology