Objective To investigate the clinical features and genetic tests of a case with congenital muscular dystrophy type 1A (MDC1A). Methods Clinical data of proband were collected, and genetic change were tested using next generation sequencing, and literatures pertinent to the epidemiology, mechanisms, especially genetic testing of lisencephaly were reviewed. Results A 5 year and 2 month old boy present with normal intelligence and delayed motor development, he can be sit alone but not walk at two years old. Physical examination showed normal mental reaction, muscular dystrophy, hypotonia, and joint contracture at early age. From biochemical tests, we found creatine kinase (CK) and CK-MB were increased (491U/L, 41.8U/L). EMG test suggested possible muscle-derived damage. Brain MRI showed white matter abnormality. And a heterozygous mutation (c.2045-2046delAG) inherited from his mother in LAMA2 gene, and another novel heterozygous mutation (del Exon5) inherited from his father were identified by genetic test. Conclusions LAMA2 gene deficiency can lead to MDC1A, and gene testing can help diagnosis.

Objective To explore the clinical feature,diagnosis,treatment and prognosis of Hashimoto′s thyroiditis(HT) combined with hyperthyroidism in children.Methods The clinical features of 56 children with HT combined with hyperthyroidism,including clinical features,complications,thyroid hormone,thyroglobulin antibody(TGAb),thyroid peroxidase antibody(TPOAb),the detection of ultrasonic imaging and fine needle aspiration biopsies,diagnosis,treatment and prognosis were analyzed.Results The proportion of men to women was 16 in all 56 children,and the mean age at diagnosis was(9.95?2.09) years.The percentage of positive TGAb and TPOAb were 93% and 98%,respectively in all the 56 children.One child was diagnosed as HT combined with hyperthyroidism coexistent and myasthenia gravis type Ⅰ.The duration of hyperthyroidism ranged from 3 to 24 months.There were 14 children who had hypothyrodism and 8 children were euthyroid in all the 56 children.Conclusions Children with HT hyperthyroidism are more frequent in young females.TGAb and TPOAb are important markers for the diagnosis of HT.Pharmacotherapy is the first choice to treat HT hyperthyroidism.Hyperthyroidism is a clinical process of HT,and the percentage of children with hypothyrodism is increasing along with the development of disease.

Objective To establish the method to determine the content of berberine in Double Yellow Antiinflammatory Tablets. Methods Using HPLC, with Diamonnsil C18 (4.6 mm?250 mm, 5 ?m) as column, acetonitrile-0.05 mol/L potassium dihydrogen phosphate (35∶65, phosphate regulation pH value to 3.0) as mobile phase, detection wavelength was at 345 nm, flow rate was 0.8 mL/min, and column temperature was 30 ℃. Results In berberine range of 0.040 7～0.447 9 ?g, the scope and content of the sample peak area had a good linear relationship, reproducibility of RSD=0.59% (n=5), and the average recovery rate was 96.71% and RSD=0.37% (n=5). Conclusion This method is stable, reliable, with high sensitivity and good reproducibility, and easy to put into practice, so it can be used for quality control of Double Yellow Antiinflammatory Tablets.

Objective To investigate the therapeutic effect of buflomedil hydiochoride for on jection inpro- gressive ischemic stroke.Methods 60 patients with cerebral infarction were divided into buflomedil hydrochoride for injection treatment group and control treatment.Then the nepal function deficits of patients were evaluated before and after 15 days.Serum MMP-9 levels in vein blood samples of ischemie stroke were detected.Results The inci- dence rate of progressive ischemic stroke in treatment group of buflomedil hydrochoride for injection was lower than that of control treatment group(P

Animals ; Carnitine ; pharmacology ; H(+)-K(+)-Exchanging ATPase ; metabolism ; Mitochondria, Muscle ; enzymology ; Muscle, Skeletal ; drug effects ; Physical Conditioning, Animal ; Rats

Objective To evaluate the effect of dexmedetomidine on the quality of recovery from anesthesia in the patients undergoing modified electroconvulsive therapy (MECT) with propofol anesthesia.Methods One hundred and ten patients of both sexes,aged 18-50 yr,weighing 45-80 kg,of American Society of Anesthesiologists physical status Ⅰ or Ⅱ,scheduled for elective MECT with general anesthesia,were randomly assigned into 2 groups (n =55 each) using a random number table:control group (group C) and dexmedetomidine group (group D).Dexmedetomidine was infused intravenously in a dose of 0.5 μg/kg (in normal saline 10 ml) over 10 min in group D,while normal saline 10 ml was infused intravenously over 10 min in group C.Propofol 1.5 mg/kg and succinylcholine 0.5 mg/kg were injected intravenously,and MECT was performed in the two groups.The emergence time was recorded.The development of cardiovascular events,nausea and vomiting,respiratory depression,headache,somnolence and agitation during recovery from anesthesia was recorded.Results Compared with group C,the incidence of nausea and vomiting,headache and agitation during recovery from anesthesia was significantly decreased (P＜0.05),and no significant changes were found in the emergence time,and incidence of hypertension,tachycardia,respiratory depression and somnolence during recovery from anesthesia in group D (P＞ 0.05).Conclusion Dexmedetomidine (intravenously infused in a dose of 0.5 μg/kg over 10 min before anesthesia) can raise the quality of recovery from anesthesia in the patients undergoing MECT with propofol anesthesia.

Objecive:To observe the clinical effects of one-off root canal therapy using iRoot SP in the treatment of chronic apical periodontitis with sinus in anterior teeth.Methods:240 anterior teeth of chronic apical periodontitis witn sinus were randomly divided into 2 groups(n=120).One-off root canal filling were performed using iRoot SP(group A) and AH-plus(group B) respectively after Nd:YAG laser disinfection.Clinical effects were evaluated 48 h,10 days and 1 year after treatment.Results:In group A and B,the 48 h postoperative pain reaction rate was 7.14% and 15.0%(P<0.05),10 days postoperative effective rate was 95.8% and 88.3%(P<0.05),1 year after treatment the effective rate was 98.3% and 94.8%(P>0.05) respectively.Conclusion:iRoot SP and AH-plus show reliable effect in the treatment of chronic apical periodontitis with sinus in anterior teeth with one-off root canal therapy.iRoot SP may result in sligher postoperative reaction and shorter healing time.

Objective To explore the roles and possible mechanism of calcium-sensing receptor(CaSR) in cell cardiac hypertrophy model using angiotensin Ⅱ (Ang Ⅱ ).Methods The cultured neonatal rat ventricular myocytes were treated with Ang Ⅱ as cell cardiac hypertrophy model.Hypertrophic neonatal rat cardiomyocytes were treated with GdCl3(a specific agonist of CaSR) and/or with Ro318220(a specific inhibitor of PKC pathway).To evaluate the status of cardiac hypertrophy,cell diameter was observed by HE dyeing,and protein content was determined through coomassie brilliant blue protein kit.The intracellular calcium concentration( [ Ca2+]i) was determined by laser scanning confocal microscope.The protein expression of CaSR and PKC pathway were analyzed using Western blotting.Results ①Compared to the control group(0.1263 ± 0.0443),the protein expression of CaSR was increased in Ang Ⅱ group and in GdCl3 group(0.1963 ± 0.0375,0.2778 ± 0.0564,all P＜ 0.05).Moreover,compared with Ang Ⅱ alone,the increase was significant in GdCl3 group(P ＜ 0.05).②Compared to control group(222.70 ± 22.09),AngⅡ group(392.16 ± 36.85) remarkably increased [Ca2+]i(P＜ 0.05),and this increase of [Ca2+]i was further enhanced in GdCl3 group (502.60 ± 44.21) versus Ang Ⅱ group (P ＜ 0.05).③Compared to control group,Ang Ⅱ could induce cardiomyocyte hypertrophy,and GdCl3 enhanced the effect.Moreover,this enhancement was attenuated by Ro318220.④Compared to control group(0.27 ± 0.07,0.69 ± 0.06,0.87 ± 0.04),the protein expression of PKCα,PKCε and PKCδ was increased in Ang Ⅱ group(0.60 ± 0.16,1.02 ± 0.13,1.20 ± 0.18,all P＜ 0.05) and the protein expression of PKCα,PKCε was increased in GdCl3 group(0.82 ± 0.16,1.34 ± 0.12,all P ＜ 0.05).Moreover,compared with Ang Ⅱ group,the protein expression of PKCα,PKCε was obviously increased in GdCl3 group (all P ＜ 0.05);compared with GdCl3 group,the protein expression of PKCα,PKCε(0.41 ± 0.10,0.85 ± 0.14) was obviously decreased in Ro318220 group(all P ＜ 0.05).Conclusions CaSR is involved in cardiac hypertrophy induced by Ang Ⅱ through PKC pathway in cultured neonatal rat cardiomyocytes.

Objective To observe the effects of electrical stimulation of the vagus nerve on sepsis-associated encephalopathy, and to explore its possible mechanism. Methods Forty adult male Sprague-Dawley ( SD ) rats were randomly divided into sham group, model group, vagotomy group ( VGX group ), vagus nerve stimulation group ( VNS group ), with 10 rats in each group. The rat model of sepsis was reproduced by injecting lipopolysaccharide ( LPS ) through femoral vein, and rats of sham group were given the same volume of normal saline. The left cervical vagotomy was performed 30 minutes before LPS administration in VGX group, electrical stimulation of the left vagus nerve was initiated 30 minutes after LPS administration in VNS group. The rats in sham group were sacrificed after receiving electroencephalogram ( EEG ) examinations, and brain specimens were taken. The changes in EEG in the other three groups were monitored at 2, 4 and 6 hours after LPS administration, and the δ wave activity percentage was calculated. The blood was collected from abdominal aorta 6 hours after LPS administration, the rats were sacrificed and brain tissue was harvested. The concentrations of tumor necrosis factor-α ( TNF-α) in plasma and brain were measured with enzyme-linked immunosorbent assay ( ELISA ). The histology and ultrastructure changes in the prefrontal cortex in the rats were observed with both light microscope and transmission electron microscope. Results Compared with sham group, the percentage of δ wave on EEG was significantly increased at 2, 4 and 6 hours after LPS administration in model group [ ( 14.52±0.50 )%, ( 16.70±0.85 )%, ( 17.35±0.36 )%vs. ( 12.60±0.46 )%, all P<0.01 ]. It could be deduced that early brain dysfunction occurred in septic rats. Compared with model group, percentage of δ wave on EEG was significantly reduced at 2, 4, and 6 hours in VNS group [ ( 13.10±0.24 )%vs. ( 14.52±0.50 )%, ( 12.81±0.53 )%vs. ( 16.70±0.85 )%, ( 12.61±0.37 )%vs. ( 17.35±0.36 )%, all P < 0.01 ], while there was no such effect in the VGX group. Compared with sham group, the concentrations of TNF-α in plasma and brain were all increased in model group [ plasma TNF-α( ng/L ): 120.11±5.10 vs. 24.37±1.85, brain TNF-α( ng/L ):165.20±6.31 vs. 14.89±0.83, both P<0.01 ]. Compared with model group, the concentrations of TNF-αin plasma and brain were all significantly decreased in VNS group [ plasma TNF-α( ng/L ):46.72±4.90 vs. 120.11±5.10, brain TNF-α( ng/L ):107.95±1.83 vs. 165.20±6.31, both P<0.01 ], while there was no such effect in the VGX group. Light microscope and transmission electron microscope showed that the damage of brain tissue and neurons in model group and VGX group was more obvious, while that in the VNS group was less severe, though not completely disappeared. Conclusions LPS can lead to sepsis-associated encephalopathy in rats. It was shown that electrical stimulation of the vagus nerve can activate anti-inflammatory effect through cholinergic pathway, and improve the cerebral function, and inhibit the development of sepsis-associated encephalopathy by reducing systemic and cerebral inflammatory reaction.

ObjectiveTo evaluate the application of chest-abdomen longitudinal diameter ratio,total lung area and lung longitudinal diameter in different gestational ages by two-dimensional ultrasonography.MethodsFive hundred and ninty-two fetus of normal singleton pregnancy between 18 and 40 weeks were ultrasonic scanned by standard 4-chamber view and fetus torso coronal section.The heart area,thoracic area,bilateral lungs pointed to the corresponding diaphragmatic dome gallery on the top of the vertical distance,diaphragmatic dome iterated top to the bottom of the fetal bladder distance were measured respectively.Related regression analysis was done on fitting total lung area and longitudinal diameter with pregnant increasing.ResultsA normal pregnancy fetal total lung area and lung longitudinal diameter were increased as long as the gestational age.The best-fit regression equations of total lung area was:Y =0.83 X +13.894,R2 =0.914;Lung longitudinal diameter was:Y =0.669 X + 3.124,R2 =0.892.Chest-abdomen longitudinal diameter ratio from 18 to 40 weeks gestation was in constant range:0.44 - 0.59.Conclusions Chest-abdomen longitudinal diameter ratio from 18 to 40 weeks gestation is in constant range.The normal pregnancy fetal total lung area and lung longitudinal diameter were increased as long as the gestational age.These parameters may be useful for the prenatal assessment of lung development.