Objective To evaluate the clinical features and guanosine triphosphate cyclohydrolase 1 (GCH-1) gene mutation in a family with dopa-responsive dystonia (DRD).Methods The clinical features of this family were collected and their peripheral blood samples were screened for mutation in GCH-1 gene using PCR and DNA direct sequencing.Results The clinical features among each patient in this family were different.But all affected family members had quite a good response to levodopa treatment without significant adverse reactions.DNA test showed an AT deletion mutation at point of 631-632 in the 6th exon of GCH-1 gene in 5 affected members and 1 asymptomatic immediate family member.Conclusions Clinical heterogeneity is an important characteristic of DRD and clinical symptoms vary intra-families.Same gene type may cause different phenotype and not all carriers are patients.The deletion mutation at point of 631-632 in the 6th exon of GCH-1 gene should be considered as a pathogenic mutation for DRD.

In this study, ultra performance liquid chromatography-quadrupole-time of flight mass spectrometer-MS^E (UPLC-Q-TOF-MS^E) combined with UNIFI analysis platform was used to rapidly analyze and identify the metabolites of hederagenins 3-O-α-L-rhamnosyl-(1→2)-[β-D-glucopyranosyl-(1→4)]-α-L-arabopyranoside (Pulsatilla saponin D) and oleanolic acid 3-O-α-L-rhamnosyl-(1→2)-[β-D-glucopyranosyl-(1→4)]-α-L-arabopyranoside (Pulsatilla saponin B₇) and hederagenins 3-O-α-L-rhamnosyl-(1→2)-α-L-arabopyranoside (Pulsatilla saponin BD) in plasma and colonic tissue of normal and ulcerative colitis (UC) rats. The database and analysis methods were established based on the precise molecular weight of compounds, retention time, neutral loss and reported data, and then the final data were obtained by comparing with the blank control group, combining with the deviation and the cracking rule of the compound. The results showed that the glucoses, hydroxylation and dehydroxylation, methylation and demethylation, dehydrogenation, decarboxylation and hydrolysis of saponin D, B₇ and BD occurred in the plasma and colon tissues of normal and UC model rats. This study will clarify the metabolic transformation of Pulsatilla saponins D, B₇ and BD in rats, determine the prototype components and their metabolites that enter the body, and whether colon injury will affect their metabolism in vivo, so as to explore the possible anti-colitis effective components in the prototype or metabolites of Pulsatilla saponins D, B₇ and BD. This experiment was approved by Animal Ethics Committee of Jiangxi Science and Technology Normal University (approval number: Y202227).

ObjectiveTo study the effect of music exposure in juvenile stage on anxiety-like behavior and fear extinction in adult rats.Methods4 broods of two-week-old healthy Sprague-Dawleyda rats were separated into two groups randomly.The music groups were exposed to music from 20:00 to 22:00 for 21 consecutive days.When the rats were 5 weeks old,they were caged by sex,with 8 male rats and 6 female rats in each group.When the rats were 8 weeks old,the two groups were assessed in the elevated-plus maze test,the open-field test,trained and assessed by the conditional fear training and fear extinction training.ResultsIn the elevated-plus maze test:Prior to the foot shock,the percent of time spent in the open arms in the music group (female(7.07 ± 1.14)％,male (5.12 ± 1.95 ) ％ ) exhibited no significant difference (P＞ 0.05 ) comparing with the rats in the control group (female (4.65 ± 0.86 ) ％,male ( 4.86 ± 1.95 ) ％ ).After the foot shock,the percent of time spent in the open arms in the music group ( female ( 8.63 ± 3.35 ) ％,male ( 7.79 ± 2.49 ) ％ ) increased comparing to the control group (female(1.48 ±0.11)％,male(4.29 ± 1.68)％) (P＜0.01). In the open-field test:prior to the foot shock,the percent of time spent in the center zone of the music group ( female (6.16 ± 2.17 ) ％,male (6.25 ±3.47) ％ ) exhibited no significant difference (P＞ 0.05) comparing with the rats in control group (female(5.27 ±1.95 )％,male (6.22 ± 3.13 )％ ).After the foot shock,the percent of time spent in the center zone in the music group (female(8.52 ± 1.93) ％,male (6.95 ± 2.46 ) ％ ) was larger than the control group ( female ( 3.47 ±0.93 ) ％,male (4.36 ± 2.22 ) ％ ) (P ＜ 0.05 ).The fear extinction training showed that the percent of freezing time exhibited no significant difference between the male and female rats of the music group and control group in the first block of the first extinction training day and the percentage of freezing time of female rats in music group was significantly lower than that of female rats in control group on the third extinction training day.The percentage of freezing time of male rats in the music group was significantly lower than that of male rats in control group on the second and third training day.ConclusionMusic exposure in juvenile stage decreases the anxiety level after foot shock,and promotes the long-term fear extinction,while has no effect on the level of fear memory.

OBJECTIVETo comparatively study the efficacy and safety of unilateral and bilateral balloon kyphoplasty in the treatment of painful multi-vertebral osteoporotic compression fractures.

METHODSFrom May 2002 to June 2007, 41 consecutive patients with painful multi-vertebral osteoporotic compression fractures underwent unilateral or bilateral kyphoplasty. The unilateral group included 3 male and 14 female with an average age of 70.4 (range 52 to 91 years old). The bilateral group included 4 men and 20 women with an average age of 72.4 (range 61 to 87 years old). Each procedure included insertion of inflatable balloon, fracture reduction and cement filling under "C"-arm monitoring. Preoperative and postoperative pain level, SF-36 score, radiographs and complications were recorded and analyzed.

RESULTSAll 41 patients tolerated the operation well. The mean operation time were (86 +/- 32) min and (120 +/- 26) min for unilateral and bilateral groups respectively; the mean volume of cement injected into one level were (3.9 +/- 1.6) ml and (5.4 +/- 2.1) ml for unilateral and bilateral groups respectively. The mean follow-up were (32.5 +/- 17.2) months and (30.7 +/- 14.3) months for unilateral and bilateral groups respectively. The mean VAS pain score of unilateral group decreased significantly from 7.4 +/- 2.1 preoperatively to 2.7 +/- 1.9 postoperatively (t = 2.50, P < 0.05) and 3.1 +/- 2.2 at final follow-up, the mean VAS pain score of bilateral group decreased significantly from 7.9 +/- 2.1 preoperatively to 2.3 +/- 2.5 postoperatively (t = 2.41, P < 0.05) and 2.7 +/- 2.2 at final follow-up, no significant difference was found between two groups. Significant increase of the mean height of anterior and medial vertebral body were recorded after the operation and maintained at final follow-up. The mean correction of local kyphosis was 7.2 degrees +/- 4.9 degrees for unilateral group and 7.3 degrees +/- 5.9 degrees for bilateral group, no significant difference was found between two groups. Postoperatively, 6 of 8 subscales measured by SF-36 were significantly improved for both groups. Complications were found in 7 patients including 6 cases of cement leakage and 1 case of pulmonary embolization.

CONCLUSIONAs a minimally invasive procedure, unilateral or bilateral kyphoplasty is effective and relatively safe for multi-vertebral osteoporotic compression fracture.

Aged ; Aged, 80 and over ; Female ; Follow-Up Studies ; Fractures, Compression ; etiology ; surgery ; Humans ; Male ; Middle Aged ; Osteoporosis ; complications ; Spinal Fractures ; etiology ; surgery ; Treatment Outcome ; Vertebroplasty ; methods

Objective To investigate the development trend of drinking-water-borne endemic fluorosis in Jiangsu Province,and to provide the basis for further prevention and treatment of the disease.Methods In 2009,eight major counties were chosen,and in each county all diseased villages were classified into light,moderate and severe disease types according to water fluorine content based on historical data,and one village was chosen from each type.In monitoring villages with improved water,one source water and three tap water samples were collected,respectively.Five water samples were collected in water unimproved monitoring villages according to water well locations of the east,the west,the south,the north and the center.The fluorine content in water was determined according to the Standard Testing Methods for Drinking Water (GB/T 5750-2006).Children aged 8 to 12 were examined for dental fluorosis by Dean method.Residents over the age of 16 were examined for clinical osteofluorosis,and two monitoring counties were chosen,then one village was respectively chosen in each county,and clinically diagnosed patients with skeletal fluorosis were examined again by X-ray.Both clinical and X-ray diagnosis were on the basis of Diagnostic Criteria of Endemic Skeletal Fluorosis (WS 192-2008).Urine samples of 30 children aged 8 to 12 and of 20 adults over the age of 16 were randomly collected and urinary fluoride was determined by F-ion selective electrode method(WS/T 89-1996).Results Of all the 24 villages of 8 counties,20 villages were water improved,and water-improvedprojects ran normally in 18 villages,while scrapped in the rest 2 villages.One hundred and two samples were tested,and the mean of water fluoride in water-improved villages was 1.10 mg/L,while in water unimproved villages and villages with water improved projects scrapped was 1.90 mg/L.The prevalence of dental fluorosis was 42.51％(854/2009).The prevalence of clinical skeletal fluorosis was 23.23％ (2024/8713) and the X-ray detection rate was 32.00％ (24/75).Six hundred and sixty-four urine samples of children were determined,and geometric mean of urinary fluorine was 1.59 mg/L,while 370 adult urine samples were determined,and geometric mean of urinary fluorine was 2.20 mg/L.Conclusions Endemic fluorosis in Jiangsu Province has not been fully controlled and there are signs of recovery.We must pay attention to water improvement measures to reduce fluoride and the management and maintenance of water improvement projects,and further strengthen the prevention and control of endemic fluorosis.

This study was aimed to investigate the effect ofDanlou pills on prevent atherosclerosis from hypercholesterolemia rabbit and its relationship with inflammatory factors as well as PI3K/AKT signal pathways. A total of 24 Japanese male white rabbits were randomly divided into the control group (CL), model group (M) and Danlou group (DL), with 8 in each group. Normal diet was given to CL rabbits. High-fat diet was given to rabbits in other groups to establish the atherosclerosis model. Danlou pills (0.5 g·kg-1·d-1) were also given to DL rabbits. Rabbits were sacrificed after 9-week medication. The contents of blood lipid, TNF-α and IL-6 were detected. HE staining was used in the observation of histological changes in the aorta. Western blot was used to observe PI3K and p-AKT expression in the aorta. The results showed that compared with CL, the contents of TG, TC, LDL, IL-6 and TNF-α were significantly increased in M (P < 0.01); PI3K and p-AKT expression in the aorta were significantly decreased (P < 0.01). Compared with M, blood lipid, IL-6 and TNF-α were significantly reduced in DL (P < 0.05, orP < 0.01); PI3K and p-AKT expression were significantly increased (P < 0.01). It was concluded thatDanlou pills had prevention effects on atherosclerosis through reducing blood lipid and inflammatory factors. The action mechanism maybe related to the activation of PI3K/AKT signal pathways.

Objective To evaluate the difference of internal diameter of bronchial artery in big lung cancer,small lung cancer,and normal lung with multiple slice CT.Methods MSCT angiographies of 44 patients with lung cancer confirmed by pathology were retrospectively analyzed,and 29 patients were with big lung cancer(≥3 cm)and 15 patients with small lung cancer(

Objective:To investigate the influencing factors for early recurrence after curative pancreaticoduodenectomy of pancreatic head cancer.Methods:The retrospective case-control study was conducted. The clinicopathological data of 104 patients with pancreatic head cancer who underwent radical resection in Fudan University Shanghai Cancer Center from May 2014 to May 2015 were collected. There were 62 males and 42 females, aged (61±10)years. Patients underwent carative pancreaticoduodenectomy. Observation indicators: (1) surgical situations; (2) follow-up; (3) influencing factors for early recurrence after curative pancreaticoduodenectomy of pancreatic head cancer. Follow-up was conducted using telephone interview to detect recurrence of patients up to postoperative 1 year. Measurement data with normal distribution were represented as Mean±SD. Count data were described as absolutes numbers, and comparison between groups was analyzed using the chi-square test. Multivariate analysis was analyzed using the Logistic regression model. Results:(1) Surgical situations: 104 patients underwent curative pancreaticoduodenec-tomy successfully. The volume of intraoperative blood loss was (474±280)mL and the number of lymph node dissection was 21±10. (2) Follow-up: 104 patients received postoperative follow-up, 44 of whom had early recurrence. Of the 44 patients with early recurrence, 42 cases had intraperitoneal recurrence including 23 cases with liver metastasis, 7 cases with metastasis in surgical site, 7 cases with retroperitoneal lymph node metastasis, 5 cases with omentum metastasis, 2 cases had extraperitoneal recurrence including 1 case with pleural metastasis and 1 case with pulmonary metastasis. (3) Influencing factors for early recurrence after curative pancreaticoduodenectomy of pancreatic head cancer: results of univariate analysis showed levels of preoperative CA19-9, levels of postoperative CA19-9, the number of lymph node dissection were related factors for early recurrence after curative pancreaticoduodenectomy of pancreatic head cancer ( χ2=5.833, 9.276, 4.261, P<0.05). Results of multivariate analysis showed that postoperative CA19-9 >37 U/mL was an independent risk factor for early recurrence after curative pancreaticoduodenectomy of pancreatic head cancer ( odd ratio=3.599,95% confidence interval as 1.551-8.347, P<0.05). Conclusion:Postoperative CA19-9>37 U/mL is an independent risk factor for early recurrence after curative pancreaticoduodenectomy of pancreatic head cancer.

Brain Stem/pathology* ; Death, Sudden/etiology* ; Fatal Outcome ; Humans ; Intracranial Hemorrhages/mortality* ; Leukemia/pathology*

Objective To evaluate the clinical efficacy and safety of compound polymyxin B ointment combined with desonide cream for the treatment of subacute or chronic eczema. Methods A multicenter, randomized, double?blind, parallel?group, controlled clinical study was conducted. Totally, 144 patients with subacute eczema and 144 patients with chronic eczema were enrolled into this study, and both randomly and equally divided into the test group and control group. The test group and control group firstly topically applied compound polymyxin B ointment and its vehicle respectively, then both topically applied desonide cream 3 hours later. The drugs or vehicle were applied twice a day in all the patients. Patients′ symptoms and signs (including degree of itching, inflammation, erosion/exudation and infiltration/thickening, as well as area of target lesions) were evaluated, and the time to onset and duration of itching?alleviating effect were recorded. The clinical efficacy and safety of treatments were analyzed and compared between the test group and control group. Results The total symptom and sign scores significantly decreased to different extents on days 7 and 14 in the test group(subacute eczema patients:6.09 ± 2.78 and 3.68 ± 3.18 vs. 13.44 ± 1.66; chronic eczema patients: 6.56 ± 2.68 and 4.38 ± 3.27 vs. 12.96 ± 1.16)and control group(subacute eczema patients:8.26 ± 3.17 and 5.28 ± 4.05 vs. 13.60 ± 1.75;chronic eczema patients: 8.84 ± 2.90 and 6.25 ± 3.78 and vs. 12.64 ± 1.18)compared with those at baseline. Moreover, the total symptom and sign score of patients with subacute or chronic eczema was significantly lower in the test group than in the control group on days 7 and 14(all P<0.05). A significant increment was observed in the degree of decrease in scores for itch, infiltration/thickening in patients with subacute eczema in the test group compared with that in the control group(all P<0.01), as well as in scores for itch, infiltration/thickening and area of target lesions in patients with chronic eczema in the test group compared with those in the control group (all P < 0.05). In addition, patients with subacute eczema in the test group showed significantly shorter onset and longer duration of itching?alleviating effect than those in the control group(both P<0.05). The time to onset of itching?alleviating effect was also significantly shorter in patients with chronic eczema in the test group than in those in the control group(P<0.000 1), but there was no significant difference in the duration of it between the two groups of patients with chronic eczema. Clinicians and patients were both more satisfied with therapeutic effects in the test group than in the control group(all P<0.05). Conclusions Topical compound polymyxin B ointment can increase the efficacy of topical desonide cream for the treatment of subacute or chronic eczema, especially subacute eczema. Compound polymyxin B ointment also shows a favorable therapeutic effect on itching and infiltration/thickening in patients with eczema.