Objective To investigate the clinical characteristics and mutations of guanosine triphosphate eyclohydrolase (GCH) Ⅰ gene in patients with dopa-responsive dystonia (DRD). Methods Five families with 18 affected family members and 17 patients with sporadic DRD were examined. Patients were allocated into 3 groups according to onset time, either in childhood, or in adolescence or adult. Interview, physical examination, psychologic testings and CT/MR scan were performed. Mutation screening was performed on 26 patients and 1 normal family nember. Thirty-five healthy control subjects were matched for age and sex. Statistical analysis were conducted with the use of SPSS 13.0 computer software. Results(1)Most of patients started with dystonia. The main clinical manifestation was dystonia too. There was no difference among 3 groups.(2) There were significant differences in diurnal fluctuation among 3 groups(15/15,6/6,7/14, χ2=13.125,P=0.001). Diurnal fluctuation negatively correlated with age (r=-0.720, P<0.01).(3)The differences in postural tremor were also found among 3 groups (7/15,5/6,1/14, χ2=8.073, P=0.018). Postural tremor positively correlated with age (r=0.399, P=0.018).(4)There were differences in exaggeration of tendon among three groups(11/15,1/6,4/14, χ2=8.309, P=0.016). Exaggeration of tendon reflexes negatively correlated with age (r=-0.429, P=0.010).(5)The scores of Hamilton Depression Scale and Hamilton Anxiety Scale in patients were higher than those in controls.(6)DNA sequencing revealed a heterozygous A224G missense mutation(Tyr75Cys)located within exon 1 in one autosomal dominant inheritance family. Conclusions The manifestations of DRD varies. The clinical course is closely correlated with age. A missense mutation(A224G)in coding region of the GCH 1 gene probablyleads to the occurrence of DRD.

Adolescent ; Bone Marrow Transplantation ; Child ; Child, Preschool ; Female ; Humans ; Infant ; Male ; Thalassemia ; surgery ; Transplantation Chimera

OBJECTIVE:To investigate the occurrence of ADR induced by Shuxuening injection in Beijing area,and to pro-vide reference for rational drug use in clinic. METHODS:ADR induced by Shuxuening injection in Beijing area during 2003-2013 was classified statistically in respects of population,organs/systems involved in ADR,clinical manifestations,occurrence time, drug combination and prognosis. RESULTS:Of 1648 ADR cases,the incidence of ADR in the elderly patients was higher than young patients,and that of female patients (60.92％) was higher than that of male patients (39.14％). Multiple organs/systems were involved in Shuxuening injection-induced ADR,and top 3 were nervous system (422 cases,21.33％),skin and its appen-dants (411 cases,20.78％) and others (305 cases,15.42％). Clinical manifestations were skin rash,itching,dizziness and ner-vousness,palpitation,arrhythmia,etc. ADR mostly occurred within 5-30 min after medication. In ADR reports,there were a vari-ety of drugs combined with Shuxuening injection. Shuxuening injection combined with Alprostadil injection was most common(61 cases,accounting for 23.46％ of drug combination). Among 1648 ADR cases,there were 622 cured cases and 1039 cases im-proved,4 cases were not improved,3 cases had sequelae and 1 case died. CONCLUSIONS:Clinical application of Shuxuening in-jection should strictly follow the indications of drug package inserts;differentiation of symptoms and signs is based on specific dos-age,solvent,route of administration,etc. It is necessary to strengthen the prescription check,and strengthen the observation after medication especially for the elderly and other special groups so as to reduce and avoid ADR.

Objective To improve the establishment of rabbit model with VX2 liver tumor and assess sonographical value in monitoring the tumor growth.Methods Fifteen New Zealand white rabbits were implanted with VX2 tumor in two liver lobes under ultrasound guidance percutaneously.Ultrasound examinations were performed at twenty days and thirty-six days after implantation.At the same time exploratory laparotomy was performed.Results Among 30 implanted tumors of 15 rabbits,16(53%) tumors were successfully implanted with few complications.It took 15 to 40 minutes to implant tumors in one rabbit.Implantation rates of left lobe and right lobe were 53% and 50% respectively,and there was no significant difference.Ultrasound examination could monitor tumor growth well.Conclusions After the improvement,the establishment of model was easier,less time-consuming,minimally invasive and caused few complications than other implantation methods.Serial ultrasound examinations should be performed in monitoring the tumor growth.

Objective To study the relationship between rotational deformity and operational correction rate in scoliosis. MethodsFrom January 2005 to December 2006,44 cases of adolescent idiopathic scoliosis with operational correction were reviewed.Before operation,all the patients were performed MRI scan of the whole spine and the rotation angle of superior and inferior endplate of nine vertebraes with the center of apical vertebrae were measured so that the mechanical torsion angle of vertebrae and disc were calculated,and the rotation compliance of the spine was obtained.In addition,preoperative plain,lateral and bending film of thoracic-lumbar vertebrae were taken to measure the Cobb angle,and the items above were compared with those of post-operation to calculate the scoliosis flexibility and correction rate.Correlation analysis was conducted between the rotation compliance,flexibility and operational correction rate in scoliosis.Results There were significant differences in the mean coronal and sagittal Cobb angle before and after the operation(P

Objective To compare the effectiveness of hyperbaric oxygen (HBO) therapy and normal pressure oxygen inhalation for lung infection in patients with severe brain injury and tracheotomy.Methods Sixty lung infection patients with severe brain injury and tracheotomy were stratified by age and Glasgow coma scale (GCS) score into an HBO group (30) and a conventional therapy group (30).Both groups were given treatments to reduce intracranial hypertension and protect the brain,surgery,antibiotics,and symptomatic and support therapy.In the conventional group the patients received oxygen therapy at normal oxygen pressure by tracheal cannula.In the HBO group,the patients received HBO therapy through self-made oxygen devices by the authors.The body temperature,cough and expectoration,respiratory sounds and white blood cell (WBC) count were compared between the groups.Results There were statistically significant differences in body temperature,cough and expectoration,respiratory sounds and the normalized time for the count and classification of WBC between the groups.Conclusion HBO had good treatment effectiveness for excretion and expectorant in lung infection patients with severe brain injury and tracheotomy.

Objective To investigate the clinical value of a new anvil inserting method for esophagogastrostomy or esophagojejunostomy during laparoscopic radical proximal gastrectomy or radical total gastrectomy for gastric cancer.Methods The clinical data of 21 patients with gastric cancer who received laparoscopic radical proximal gastrectomy or radical total gastrectomy at the Southwest Hospital from March 2010 to February 2011 were retrospectively analyzed.Five trocars were inserted through the abdominal wall of the patients.After perigastric lymphadenectomy and mobilization of esophagus,an incision was made on the esophagus above the tumor,and then the anvil with drawn wire attached was inserted into the esophagus.An endo-cutter was applied to cut the esophagus adjacent to the incision left the drawn wire untouched,and then the stem of the anvil was pulled out by the drawn wire for laparoscopic anastomosis. Results The operations were successfully accomplished under the laparoscope with no conversion to open surgery.Fifteen patients received laparoscopic radical total gastrectomy and 6 received laparoscopic radical proximal gastrectomy. The mean operation time,volume of blood loss,time to off-bed activity,passage of flatus and postoperative duration of hospital stay were (257 ± 38) minutes,( 119 ± 32) ml,(2.5 ± 0.5 ) days,( 3.7 ± 0.8 ) days and (7.5 ± 2.6) days,respectively.No perioperative mortality,anastomotic bleeding or anastomotic fistula was detected.One patient was complicated with pulmonary infection + pleural effusion and was cured by conservative treatment; 1 was complicated with anastomotic stenosis which was alleviated by gastroscopic balloon dilation; 1 was complicated by incisional infection and was cured by medical treatment after drainage.No cancer cells were detected at the anastomotic ring or resection margin of the specimen.There were 4 patients with well-differentiated adenoma,8 with moderate-differentiated adenoma and 9 with poor-differentiated mucinous adenoma.There were 5 patients in stage Ⅰ,10 in stage Ⅱ and 6 in stage Ⅲ (UICC staging).Twenty-one patients were followed up for a mean period of (11 ±4) months (range,6-17 months ),no tumor recurrence or metastasis was detected. Conclusions The new technique for anvil insertion is safe,effective and easy for manipulation and learn.It offers a new approach for laparoscopic digestive tract reconstruction.

Objective To investigate the functional changes of dendritic cells (DC) in elderly patients with sepsis. Method Elderly patients (n = 20), ages 75 to 86 years, treated in the department of internal medicine for cadres and the medical intensive care unit (MICU), were selected to participate in the study. Patients with ma-ligoant tumors, hematological diseases, immune diseases, or a history of receiving drugs known to interfere with immune functions were excluded. Using the American College of Chest Physicians/Society of Critical Care Medicine (ACCP/SCCM) definition of sepsis, the patients were categorized into four groups: non-sepsis (group A) (n = 5) ; sepsis (group B) (n = 5) ; severe sepsis (group C) (n = 5) ; and septic shock (group D) (n = 5). The peripheral blood mononuclear cells (PBMCs) of each patient were isolated and cultured with human re-combinant granuloceyte-macrophage colony-stimulating factor (GM-CSF) and interleukin-4 (IL-4) in vitro for 10 days. The cells were examined under an inverted microscope, scanning electron microscopy, and flow cytometry. The MTT colorimetric assay was used to observe the abilities of the dendritic cells to stimulale an allogeneic T lym-phocyte response in vitro. Paired t -test was used to compare changes in the surface markers among the different groups, Results The PBMCs in the four groups of patients differentiated into cells with typical dendritic configura-tions after in vitro cuhure with combined cytokines. The CD40, CD80, CD86, and HLA-DR expressions on the cell surfaces increased after culture,with (43.2±12.5)%/(27.3±9.3)%, (31.4 ± 10.1)%/(22.5 ± 8.7)%, (39.3±15.7)%/(21.9±7.7)%, and (75.4±25.6)%/(58.7±16.7)%, respectively. The stimulation index (the abilities of the dendritic cells to stimulale the allogeneic T lymphocyte response in vitro) in the four groups of patients after culture were (23.3±7.9) in group A, (18.9±8.3) in group B,(11.4±5.1) in Group C,and (5.5 ± 3.7) in Group D. Conclusions The immune functions of the dendritic cells of elderly patients with sepsis decrease in a linear manner with the severity of their septic state.

Objective To investigate the effects of CO_2 pneumoperitoneum on the expression of focal adhesion kinase (FAK) of gastric cancer MKN-45 cells. Methods CO_2 pneumoperitoneum with different pressures was simulated in vitro, and the gastric cancer MKN-45 cells were divided into test and control groups. In the test group, gastric cancer MKN-45 cells were cultured in CO_2 pneumoperitoneum with different pressures [5, 10 or 15 mm Hg (1 mm Hg =0.133 kPa)] for 4 hours. The condition of the cells exposed to CO_2 pneumoperitoneum with a pressure of 15 mm Hg was observed at 0.5, 2 and 4 hours. Gastric cancer MKN-45 cells in control group were cultured at normal atmospheric pressure. The expression of FAK and phosphorylated FAK (FAK Tyr397) of each group was detected by Western blot. Multiple-group analysis was done by one-way ANOVA, and intergroup comparison was done by LSD test. Results In CO_2 pneumoperitoneum with pressures of 5, 10, 15 mm Hg, the expression of FAK was 2.14±0.17, 2.07±0.21 and 2.52±0.26, respectively, and the expression of FAK Tyr397 was 1.82±0.28, 1.93±0.52 and 3.71±0.37, respectively. The expression of FAK and FAK Tyr397 in the control group was 2.43±0.46 and 1.71±0.23, respectively. We found significant differences between the 2 groups (F = 2.171, 26.951, P < 0.01). After gastric cancer MKN-45 cells being treated for 0.5, 2 and 4 hours in CO_2 pneumoperitoneum with a pressure of 15 mm Hg, the expression of FAK Tyr397 was 3.41±0.44, 4.12±0.56 and 5.24±0.41 respectively, which is also significantly different (F =116.119, P < 0.01). The expression of FAK Tyr397 was back to 0.72±0.16 1 hour after the release of CO_2. Conclusions CO_2 pneumoperitoneum with different pressures can not promote the expression of FAK in gastric cancer MKN-45 cells which had been cultured for 4 hours, but can activate FAK through promoting its phosphorylation. The degree of FAK phosphorylation increases with pressure and time, and the activity of FAK decreases to pretreatment level rapidly once pressure is released.

AIM:To investigate the role of minocycline on glutamate uptake in the periventricular zone and its putative mechanism after hypoxic exposure in neonatal rats.METHODS: A model of hypoxic-ischemic brain damage (HIBD) was developed by putting postnatal 1 d rat pups in 5%O2 for 3.5 h.The glutamate level in periventricular zone was measured by liquid chromatography coupled with tandem mass spectrometry assay ( LC-MS/MS) after hypoxic exposure for 4 h and 1 d.The dynamic changes of glutamate transporters EAAT1, and EAAT2 during developmental period in periventricular zone were determined by Western blot.Moreover, the expression of EAAT1, EAAT2, Iba-1, IL-1β, TNF-αand TGF-β1 was also detected by Western blot after hypoxic exposure for 4 h and 1 d in that region.The effects of mino-cycline on all parameters mentioned above were tested after minocycline treatment at the same time points and in the same region.RESULTS:After hypoxic exposure, glutamate level was increased, but it was decreased after minocycline treat-ment.EAAT1 and EAAT2 kept a low expression level at the first postnatal week, but a predominant elevation was found at the end of the second postnatal week.The expression of EAAT1, EAAT2, Iba-1, IL-1βand TGF-β1 was increased at 1 d after hypoxic exposure.EAAT1 and TNF-αexpression was significantly up-regulated, while EAAT2 was down-regulated af-ter minocycline treatment.CONCLUSION: Minocycline inhibits the increase in the glutamate level after hypoxia in periventricular region of the neonatal rats.The mechanism may relate to the selective regulation of glutamate transporters, rather than the inhibition of neuroinflammation in periventricular zone.