ObjectiveTo explore the clinical presentation, diagnosis, treatment, and outcome of the Barth syndrome (BTHS).MethodsClinical data were collected and analyzed from 3 patients with conifrmed genetic diagnosis of BTHS from June 2013 to October 2014.ResultsAll of the 3 patients were males and two of them were twins. The main clinical manifes-tations of the 3 patients were cardiomyopathy and heart failure, accompanied by different degrees of trabeculations of the left ventricle. Two of them were diagnosed of left ventricular noncompaction (LVNC). All of the 3 patients presented with motor retardation, muscle weakness, growth delay and signiifcantly increased urinary excretion of 3-methylglutaconic acid (3-MGC). One patient was found to have neutropenia. All 3 patients hadTAZ gene mutations which included a novel missense mutation (c.527A>G, p.H176R) detected in the twins and a known nonsense mutation (c.367C>T, p.R123X) identiifed in the other patient. All of the mutations were inherited from their mothers. During the follow-up, the twins died at 7 months old and 7.5 months old respectively. The other patient was still alive.ConclusionBTHS is one of the causes of cardiomyopathy in children. In the male patients who presented with muscle weakness, neutropenia, and increased urinary excretion of 3-MGC, especially in those com-bined with LVNC, BTHS should be screened.

Objective To evaluate the curative effects of intravenous methylprednisolone (IVMP) during the conservative management for patients with indirect optic nerve injury (ONI),and to analyze the benefits of visual evoked potential (VEP) monitoring in prognosis assessment.Methods Among the 253 patients with cranial-facial injury,108 sufferred from optic nerve injury including 89 cases without optic nerve decompression treatment.These 89 patients were randomly divided into:group A,in which patients were given methylprednisolone intravenously for 7 days; and group B,in which patients without methylprednisolone treatment.The extent of and time required for eyesight recovery were recorded.VEP measurement was carried out in all cases.Results No differences in gender,age and BMI (Body Mass Index,all P ＞ 0.05) were observed.The incidence of ONI was higher in patients with motorcycle accident than that in those with car accident (P ＜0.01).In the motorcycle accidents,casualties wearing a helmet had lower incidence of ONI (P ＜ 0.01).Patients treated with methylprednisolone had a shorter recovery time (P ＜ 0.01) from blindness,however there was no difference in long-term outcome between group A and B.In patients with visual improvement in the “ non-extinguished” group,the amplitude and latency of the P wave of VEP were markedly ameliorated after the treatments (P ＜ 0.01).Conclusions Most of the ONI casualties in our study were resulted from motorcycle accidents,and wearing a helmet is an effective protection measure.The intravenous methylprednisolone (IVMP) showed no effect on improving the prognosis in patients with conservative treatment.The IVMP shortened the recovery time at the expense of increase in risk of complications.VEP examination is beneficial in prognosis assessment for non-operative ONI patients.The improvement of the amplitude and latency of P wave has close correlations with patients'visual recovery.

Objective To study the combination treatment of lfexible/lfexible sheath and rigid ureteroscopic lithotripsy (F-ul) for upper and middle ureteral stones. Methods The clinical data of patients diagnosed of upper and middle ureteral stones were collected. The treated group (110 cases):ifrstly treated with rigid ureteroscopic lithotripsy to broke and removed stones through lfexible sheath, then the lfexible ureteroscopic lithotripsy was used to broke and removed stones through lfexible sheath;The control group (110 cases):traditional operation for ureter calculi. The clinical data was compared between the two groups. Results The effective ratio of treatment group is 90.0%, which was better than that of control group (87.3%) (P>0.05). The operation time, stone processing time of treatment group were signiifcantly shorter than those of control group (P<0.05), and F-ul using time was signiifcantly much more (P<0.05). The hospitalization time and complication rate were no signiifcantly difference between the two groups (P> 0.05). Conclusion The method of combining flexible/flexible sheath and rigid ureteroscopic lithotripsy for upper and middle ureteral stones was better than that of traditional operation, which worth to be popularize in clincal treatment.

Sleep deprivation due to extended work hours and circadian disruptionhas long been a concern in medicine.Clinicians who have been deprived of sleepfailed to ensure that patients are safe or that the quality of care they receive is high.So it can not be ignored to solve the tense relationship between the clinicians and the patients in China.As a result,to pay attention to the fatigue among clinicians and the safety of patients in our country has its practical significance.Take an active strategy to properly resolve the problem of fatigue among clinicians to ensure medical security,the establishment of safe,high-quality health care system,not only directly related to the treatment of patients,but also to the harmonious relations between clinicians and patients to ensure the safety of health care are very important.

Now symptomatic extracranial and intracranial stenting usually uses bare metal stents, but the incidence of restenosis is higher.The studies of drug-eluting stems for the treatment of coronary atherosclerosis have suggested that the incidence of restenosis decreases significantly. Although extracranial and intracranial drug-eluting stem placement appears to be safe,further large,prospective,randomized,controlled trials are needed to demonstrate its safety and effectiveness.

Objective: To investigate the cognitive impairment features in patients with amnestic mild cognitive impairment(aMCI) and vascular cognitive impairment-no dementia(VCI-ND).Methods:Sixteen normal elders,10 patients with aMCI and 12 patients with VCI-ND were recruited.The normal elders were selected from communities in Shanghai,while the aMCI and VCI-ND patients were selected from outpatient clinic.All participants ranged in age of 50～80 years,with education level of junior middle school or above,and they completed cranial CT or MRI and a series of neuropsychological tests.Results:In the three memory tests,aMCI group performed worst.The scores of both aMCI and VCI-ND groups were lower than that of the normal elders.For example,the delayed recall scores of the Rey-Osterrich complex figure test in the three groups were(18.8?9.5)(normal),(5.6?5.6)(aMCI) and(9.6?7.0)(VCI-ND)(P

OBJECTIVETo study the impact of IFN-gamma on liver fibrosis and its possible mechanism. Thirty healthy male SD rats were randomly divided into two groups: fibrosis model group, IFN-gamma treatment group. Experimental liver fibrosis was induced by subcutaneous injection of CCl4. After 12-week-treatment, serum hyalurnic acid and TGF-beta1 was examined, histopathological changes and degrees of fibrosis were observed by optical microscopy. Meanwhile, the expression of TGF-beta1, TbetaR- I and Smad2/3 proteins was detected by immunohistochemistry and quantified by using computerized image analysis.

RESULTS(1) Pathological observation of hepatic specimens: histological examination showed that there were significant difference between normal group and fibrosis model group by comparing with the degrees of inflammation and fibrosis (P < 0.05). And the difference between fibrosis model group and IFN-gamma treatment group was significant (P < 0.05). (2) Changes of the hepatic fibrosis index (serum HA and TGF-beta1): the levels of serum HA, TGF-beta1 in fibrosis model group were higher than IFN-gamma treatment groups (P < 0.05). (3) Changes of gene protein levels about TGF-beta1/Smad: the expressions of TGF-beta1, TbetaR- I and Smad2/3 in rat hepatic tissue were detected with immunohistochemistry techniques. The expressions of the three items in model group were higher than normal group (P < 0.01). The difference between model group and IFN-gamma treatment group was significant (P < 0.05);

CONCLUSIONIFN-gamma treatment group had significant results on treating experimental hepatic fibrosis. By the way of inhibiting expressions of TGF-beta1, TbetaR- I, Smad2/3, IFN-gamma treatment group exerted its anti-fibrosis effect.

Animals ; Disease Models, Animal ; Humans ; Interferon-gamma ; therapeutic use ; Liver ; drug effects ; metabolism ; Liver Cirrhosis ; drug therapy ; genetics ; metabolism ; Male ; Rats ; Rats, Sprague-Dawley ; Smad2 Protein ; genetics ; metabolism ; Smad3 Protein ; genetics ; metabolism ; Transforming Growth Factor beta1 ; genetics ; metabolism

Objective To evaluate the safety of dynamic anterior plate fixation for cervical distractive flexion injuries and compare its rigidity between different types of plate design. Methods Twelve sets of cadaveric calf spine were used in this test. All the specimens were made into distractive flexion injury models (C4-C5) ac- cording to Allen's method. After discectomy and grafting, they were randomized into three groups in which Orion, Codman, and Window instrumentations were used respectively. The stiffness of each construct was tested in flexion, extension, lateral bending and axial torsion conditions sequentially. Results Compared with an intact cervical spine, the range of motion (ROM) of an injured cervical spine increased whatever plate was applied. Orion in- strumentation presented stiffness the closest to that of the normal control, except for less torsional stiffness. Codman instrumentation provided stiffness close to that for normal and Orion groups only in lateral bending. Window's was the weakest mad not enough in all kinds of movement. Conclusions Static anterior fixation is the first choice for cervical injuries. Dynamic plate fixation may sacrifice stiffness to some extent, especially when a shifting kind of design is to be chosen.

OBJECTIVETo observe the clinical effect of electric stimulation of long-term retaining needle on analgesia after laparoscopic cholecystectomy (LC) and the impacts on the post-surgical flatus time.

METHODSUnder static absorptive composite general anesthesia, 90 cases of LC were randomized into three groups, 30 cases in each one. In the control group, the analgesia was not applied after LC. In the analgesia-pumper group, the patient controlled intravenous analgesia (PCIA) was used. In the needle-retaining group, the electric acupuncture stimulator was used. The needles were inserted transversely at Riyue (GB 24), Qichong (ST 30) and Yanglingquan (GB 34) and fixed with sterile sticker. Separately, in 8 h and 24 h after surgery, the electric acupuncture stimulation with disperse-dense wave, 2 Hz/100 Hz frequency was applied continuously for 30 min. Visual analogue scale (VAS), adverse reactions such as vomiting and nausea and the postoperative flatus time in 2, 4, 8, 12, 24 and 36 h after surgery were observed and recorded in the three groups.

RESULTSIn 2, 4, 8, 12 and 24 h after surgery, VAS scores in the needle-retaining group and the analgesia-pumper group were all lower than those in the control group (P < 0.05, P < 0.01). The analgesia effect at the above time points in the needle-retaining group was better than that in the analgesia-pumper group (all P < 0.05). There was not adverse reaction in the needle-retaining group. But there were 3 cases of somnolence, 6 cases of nausea and 3 cases of vomiting in the analgesia-pumper group, and 2 cases of nausea and 1 case of vomiting in the control group. The flatus time was quite earlier in the needle-retaining group as compared with the other two groups [(14.77 +/- 4.99) h vs (18.50 +/- 4.22) h, P < 0.01; (14.77 +/- 4.99) h vs (18.17 +/- 4.69) h, P < 0.05].

CONCLUSIONThe electric stimulation of long-term retaining needle is safe and effective in analgesia after LC. It avoids the adverse reactions of analgesics and promotes postoperative flatus.

Acupuncture Analgesia ; instrumentation ; Adult ; Aged ; Cholecystectomy, Laparoscopic ; adverse effects ; Electroacupuncture ; instrumentation ; Female ; Humans ; Male ; Middle Aged ; Pain Management ; Pain, Postoperative ; etiology ; therapy

Objective To establish a real time reverse transcription polymerase chain reaction method for detecting WT1 and to understand the expression levels of WT1 in acute lymphocytic leukemia(ALL) of children through examining peripheral blood of leukemia children.Methods Thirty ALL patients, 13 non-leukemia Children and 18 normal children were included in this study. The method of real time RT-PCR detecting the expression of WT1 was established. The expression levels of WT1 gene were tested by this method.Results The expression levels of WT1 in 13 ALL with newly diagnosed patients were (105-106)copies/?g RNA, 12 with partial remission were (102-104)copies/?g RNA and 12 with complete remission were (0-102)copies/?g RNA.Conclusions Significant expression levels of WT1 in ALL are higher than those in non-leukemias and normal children.WT1 could be a marker for detecting minimal residual disease and evaluating therapy efficacy in ALL.