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

OBJECTIVEIncidence and severity of motion sickness (MS) in hot-humid environment are extremely high. We tried to know the effect of two-stage training for reducing incidence and severity of ms.

METHODSSixty male subjects were divided into experimental group and control group randomly. Subjects in experimental group received: (2) adaptation training including sitting, walking and running in hot lab. After adaptation confirmation based on subjective feeling, rectal temperature, heart rate, blood Pressure, sweat rates and sweat salt concentration, we tested both groups by Coriolis acceleration revolving chair test and recorded Graybiel's score and grading of severity to evaluate whether adaptation training was useful; (2) Anti-dizzy training 3m later of deacclimatization contained revolving chair training for 10 times. Then we did the same test as mentioned above to evaluate effect of anti-dizzy training. RESULST: Graybiel' s score and grading of severity had no difference between two groups through acclimatization training (P > 0.05). While they had difference through anti-dizzy training (P < 0.01).

CONCLUSIONAdaptation training seems useless for reducing incidence and severity of MS in hot-humid environment, but anti-dizzy training is useful.

Acclimatization ; physiology ; Adolescent ; Hot Temperature ; Humans ; Male ; Motion Sickness ; physiopathology ; prevention & control ; Young Adult

Adult ; Humans ; Male ; Patellar Dislocation ; congenital ; diagnosis ; therapy

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

AIM: To explore the expression of cytokeratin 20 (CK-20)target gene in peripheral blood of patients with colorectal cancer. METHODS: Total cellular RNA was extracted from whole blood of cancer patients and control groups, including 10 healthy adults, 17 benign gastrointestinal disease patients, 32 cases of colorectal cancer. The CK-20 gene expression was measured by reverse transcription PCR. RESULTS: 1. CK-20 mRNA was not detected in benign gastrointestinal disease patients and healthy adults. 2. In the colorectal carcinoma group, CK-20 mRNA expression was negative in 2 case of patients at Dukes A. The CK-20 mRNA positive expression can be detected in 4 patients among 15 cases at Dukes B, 6 out of 10 cases at Dukes C, 4 out of 5 cases at Dukes D. 3. The total positive percentage of CK-20 mRNA is 43 8% in 32 colorectal cancer patients; The positive percentage of CK-20 mRNA in patients at Dukes A and B is 23 5% and 6 7% in Dukes C, D patients CONCLUSION: It is a specific, sensitive and no damage method to detect the CK-20 target gene in patients with colorectal cancer. It is helpful for early diagnosis of tumor micrometastasis and for direction of chemotherapy.

To understand the differences of the clinical research of acupuncture at home and abroad in methodological design and implementation, so as to provide reference for exploring acupuncture clinical study design program suitable to China. Reading clinical research literature of acupuncture and moxibustion for treatment of stroke at home and abroad and analyze and probe the methodological design and implementation. The results indicate that clinical research of acupuncture and moxibustion abroad has advantages in the randomized, controlled and double blind, etc. We should adopt the advantages of Chinese medicine, enrich and perfect research design program which can be approved by modern medicine and properly reflect the therapeutic effect of acupuncture and moxibustion on stroke.
Acupuncture Therapy ; Humans ; Medicine, Chinese Traditional ; Moxibustion ; Randomized Controlled Trials as Topic ; Research Design ; Stroke ; therapy