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 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 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 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

Background Autologous and allograft renal transplantation exist some disadvantages of less donor source and rejection.As a scaffold of cell in tissue engineering,fibroin was determined to have a good biocompatibility.But whether the fibroin membrane can become a substitution for tissue defect is seldom reported.Objective This experiment aimed to investigate the feasibility of silk fibroin membrane in the rabbit eyelid reconstruction in situ.Methods A 4 mmx3 mm tarsi defect model was created on the upper eyelids of 18 healthy New Zealand white rabbits.The eyelid reconstruction in situ was performed with regenerated silk fibroin membrane material in the right upper eyelids (silk fibroin group ) and allogenic sclera material (sclera group ) on the upper eyelids of fellow eyes.The grafts were clinically examined for the evaluation of inflammation and implant exposure at the first,second and forth week after operation.The inflammation response and collagen distribution were examined by hematoxylin & eosin staining and Masson staining.Expression of basic fibroblast growth factor(bFGF) in the grafts was detected by immunohistochemistry,and ImagePro Plus software was used for statistical analysis.Results All eyelid defects showed a primary healing.The surface of palpebral conjunctival was smooth and the inflammation of ocular surface was mild.The eyelid margin in the sclera group was more notch than that in the silk fibroin group.Results of pathological examination revealed that the arrangement of collagen fibers in the sclera group was more disordered,but that in the silk fibroin group was regular.The expression level(A value) of b-FGF in the operative area in silk fibroin group were 0.027 67±0.004 69,0.051 73±0.008 72,0.058 72±0.006 88,and those in the sclera group were 0.056 48±0.009 14,0.072 83 ± 0.009 17 and 0.078 73 ±0.010 84 in 1,2,4 weeks after operation,showing statistically significant differences between two groups in various time points ( t =- 6.38,t =- 4.99,t =- 2.87,P ＜0.05 ).Conclusions Silk fibroin membrane can reconstruct the eyelid shape in situ with the less inflammation response and good biocompatibility.Silk fibroin membrane could be used to support the eyelid as a new tarsal repairing materials.

Background Research showed that exposure of 530 nm monochromatic light can induce myopia in animal,and retinal Müller cells participate in the formation of myopia.However,the effect and mechanism of retinal Müller cells during the formation of monochromatic light induced-myopia is below understood.Objective This study was to investigate biologic characteristics of rat retina Müller cells and the expression of cell factors in Müller cells after being illuminated by the 530 nm monochromatic light,and discuss the role of the retina Müller cells in myopia induced by monochromatic light.Methods Immortalized rat retinal Müller cells were cultured with DMEM containing 10％ fetal bovine serum in a self-made cell incubator with monochromatic light by adjusting luminance of 530 nm LED source.The cells were exposed to 125,250 and 500 lx luminance respectively for 6,12 and 24 hours,and the cells without light-irradiation were used as control.The growth of the cells under the different light time and different illuminations was described by MTT as the absorbance at the wavelength 570 nm (A570),and cell cycle analysis of Müller cells was performed by flow cytometry 48 hours after cultured,and the expression of transforming growth factor-beta 1 (TGF-β1),tyrosine hydroxylase(TH),inducible nitric oxide synthase(iNOS) and basic fibroblast growth factor(bFGF)in the cells were detected by reverse transcription PCR(RT-PCR),respectively.Results The Müller cells were uniform in size with polygonal shape and defined edges.No statistically significant difference was found in the A570 value in the cells of the 125 lx and 250 lx illuminated groups compared with the control group in various time points(P＞0.05).However,significant lowing was seen in the A570 value in the cells of the 500 lx illuminating for 12 hours and 24 hours in comparison with the control group (P =0.013,0.001).Compared with the control group,the ratio of the number between G2 and G1 phase was not significantly declined in 125 lx,250 lx illuminating for 48 hours (P =0.073,0.330),and the ratio in the 500 lx illuminating group was significantly lower than those in the 250 lx illuminated group and the control group (P =0.028,0.038).RT-PCR revealed that the expression of TGF-β1 mRNA in the cells was higher in the 250 lx illuminated group than that of the 500 lx illuminated group (P=0.006).The expression of iNOS mRNA was gradually upregulated in the 250 lx illuminated group compared with the control group (P =0.001),but that in the 500 lx illuminated group was downregulated (P =0.000).The expression of bFGF mRNA was raised in the 125 lx and 250 lx groups but reduced in the 500 lx group when compared with the control group(P=0.002,0.000,0.005).Also,the expression of TH mRNA was significantly increased in the 250 lx group(P=0.000),but decreased in the 500 lx group(P=0.000,P=0.001).Conclusions The monochromatic light of 530 nm can inhibit the growth of rat Müller cells and downregulate the expression of myopia-related cell factors and therefore exert effect in the formation of myopia.

Objective To study the clinical characteristics of neonates with Listeriosis sepsis and explore the nursing experience. Methods The clinical data of 22 cases with neonatal Listeriosis sepsis were retrospectively analyzed.Results Twenty-two neonates developed Listeria monocytogenes sepsis 0.5 h~5 d after birth with 13 cases of low birth weight. The stay was 2~77 d,10 were discharged after recovery,7 were discharged after signature of their families due to improvements and 5 died of meningitis and septicemia.Conclusion Timely and accurate collection of samples should be done for laboratory examinations.Close observation of the diseases,attaching importance to infant feeding and implementation of infant developmental nursing are all critical for the improvement of cure rate.

OBJECTIVETo investigate the characteristics of father-to-son vertical transmission of Y chromosome microdeletions

METHODSWe detected the Y by detection of Y chromosome microdeletions in infertile men and analysis of some of their families. chromosome azoospermia factor (AZF) microdeletions in the peripheral blood of 1 052 infertile males, investigated the paternal relatives of 12 cases of AZFc, 1 case of AZFb and 1 case of AZFb + c microdeletions, and drew the family tree diagrams of the infertile paternal relatives according to the findings.

RESULTSAmong the 1 052 infertile patients, 89 (9.73%) were found with Y chromosomal microdeletions, including 56 with AZFc, 6 with AZFa, 5 with AZFb, 14 with AZFb + c, and 8 with AZFa + b + c deletion. The investigation of the 14 patients'families revealed 1 case of AZFb and 1 case of AZFb + c deletion de novo. Among the 12 cases of AZFc deletion, vertical heredity was found in 5 patients with severe oligozoospermia, but not in the other 7 with azoospermia.

CONCLUSIONAZFe deletion may be vertically inherited from the father in severe oligozoospermia patients, and it is different from the paternal phenotype, while in azoospermia patients, AZF deletion, whatever type it may be, is less likely to be associated with vertical paternal heredity.

Adult ; Chromosome Deletion ; Chromosomes, Human, Y ; genetics ; Humans ; Infertility, Male ; Male ; Mass Screening ; Pedigree ; Sex Chromosome Aberrations ; Sex Chromosome Disorders of Sex Development ; genetics ; Young Adult

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.