Background Stickler syndrome is a genetic connective tissue disorder that affects the ocular,skeletal,orofacial and auditory systems.To determine the gene mutation loci can offer a basis for genetic diagnosis and management of Stickler syndrome.Objective The aim of this study was to research the clinical characteristics of a pedigree with Stickler syndrome and identify the disease-causing gene mutation.Methods This study was approved by Ethic Committee of Peking Union Medical College Hospital.The clinical study and pedigree analysis were performed in one family with Stickler syndrome type Ⅰ (STL Ⅰ).Nine family members were examined with informed consent.The entire coding regions of COL2A1 gene with flanking intronic regions were amplified by PCR and directly sequenced.The detected sequence change was confirmed to be mutationloci by examining whether they existed in normal control individuals.Mutant proteins were predicted with online software.Results There were 4 generations and 11 members in this family,and 2 members died,including 1 patient.Three patients were found in 9living families.Inheritance of this family complicd with an autosomal dominant inheritance mode.All affected individuals showed the consistent phenotypes with STL Ⅰ,including high myopia,membranous vitreous anomaly and surface central flat,short nose,palatoschisis,etc.Mutation screening of COL2A1 gene revealed that the first base of intron 12 was deleted(IVS12+1G del).Nucleotide sequence analysis showed that this mutation led to the functional abnormal of this gene by forming termination cordon in advance.This mutation occurred in all affected individuals,however,no mutation was observed in any unaffected member or 100 normal unrelated individuals.Conclusions This study identifies a novel splice-site mutation(IVS12+ 1G del)in COL2A1 gene in a Chinese STL Ⅰ pedigree.This is the first report on a mutation in a Chinese STL Ⅰ family.

Objective To analyze the distribution and clinical characters of cyanotic congenital heart diseases in newborns.Method We examined the suspicious cases with color doppler ultrasonic cardiogram(CFM),and compared with the results of autopsies.Results The most common congenital diseases in the group were complete transposition of the great arteries,with the proportion of 34.4%, and most of them were compounded cardiovascular disorders. The most common symptom was cyanosis, took the proportion of 84.3%; some patients had no cyanosis, tachypnea and murmurs.The cases with cardiovascular disorders most were combined with type Ⅱrespiratory failure and metabolic acidosis.Conclusions There are many types of congenital heart diseases, the symptoms are untypical,so the suspicious cases shall examine with CFM as early as possible.

Objective To explore the risk factors in children with epilepsy and their effects on attack rate of epilepsy.Methods One hundred and sixty epilepsy patients(patient group,88 boys and 72 girls)and 150 healthy children(control group,72 boys and 78 girls)were selected.All children conformed epilepsy at the west China second hospital were consecutively included in the study for 6 months period.The range of age was from 1 month to 16 years[(7.0?4.7)years old] of patient group children.All children with epilepsy had no-causation seizure for more than twice time and were diagnosed by electroencephalogram.Neurologically normal children in same period,matched for age and sex,visiting the health care clinic were selected as controls.The range of age was from 2 month to 16 years [(6.3?4.5)years old] of control group children.The risk factors examined were febrile convulsions,head trauma,central nervous system infections,abnormal perinatal history,family history of epilepsy and parental consanguinity.The data of patients and controls were obtained from a questionnaire through personal interviews.Details on the patient,family history,and parental age at the time of childbirth were included.Medical records were then reviewed.According to the data type,the statistics were performed with ?2 test and the significance level was the P

Objective To evaluate the role of multidetector CT(MDCT) and high magnetic field MRI in diagnosis of small cystic-solid renal mass. Methods Fifty-two cases with small renal cystic-solid mass(≤3 cm) were consecutively collected,including small cystic-solid renal cell carcinoma(n=25),carcinoid(n=1),complex cysts(n=16),small angiomyolipoma(n=7) and benign cystic nephroma(n=3).All were examined by both 1.5T MRI and multidetector CT at intervals between 3 days and 2 months. Results All cases were proved by pathology.Multi-planar reconstruction techniques were useful for MDCT in differentiating small cystic-solid renal mass,with the sensitivity of 98.1%,which was as high as MRI.However,the accuracy for MDCT was 71.2%,significantly lower than that of MRI(90.4%)(P=0.001).MRI helped to identify the components and structure of renal masses,and behaved better in the detection of pseudo-capsule of renal cell carcinoma(57.7%).Conclusion High magnetic field MRI may play an important role in the diagnosis of small renal cystic-solid masses,and it may be feasible as a noninvasive examination when CT can not make the ultimate determination.

Event-Related Potentials, P300 ; physiology ; Humans ; Individuality ; Male ; Memory, Short-Term ; physiology ; Neuropsychological Tests ; standards ; Young Adult

The plastic splint PCL,which is introduced in this article,is a new type of medical exter- nal immobilization material.During the course of its development,the burden has been optimality seeked with regressive orthogonality after screening of the material.Its function has attained the international levels during the eighties.This splint may be used not only in the treatment of burns and various orthopedic conditions,but also in the immobilization of fracture and rehabilation treatment of orthopedic patients etc.

Adolescent ; Child ; Child, Preschool ; Cytomegalovirus Infections ; complications ; Female ; Humans ; Kidney Diseases ; etiology ; Kidney Glomerulus ; pathology ; Male

OBJECTIVETo explore the effects of nano-hydroxyapatite/polyamide 66 (n-HA/PA66) cage on recovering and maintaining lumbar curvature, lumbar heights and fusion rate when used in the transforaminal lumbar interbody fusion.

METHODSFrom February to July 2012, 50 patients with degenerative lumbar disease(lumbar disc herniation in 32 cases and lumbar spondylolisthesis in 18 cases) were treated with transforaminal lumbar interbody fusion using the n-HA/PA66 cage, and their preoperative and postoperative clinical outcomes were analyzed. The patients were followed up for 2, 4, 6 and 8 months after operation, during which the CR and CT film of lumbar vertebra were checked to get relative height of vertebral space, Taillard index,index of lumbar spinal curvature,angle of segmental and full lumbar lordosis. The data were analyzed respectively with pair t-test, analysis of variance or LSD-t-test.

RESULTSAll the patients were followed up, and the duraion ranged from 8 to 13 months, with a mean of 11.32 months. There were significant differences in relative height of vertebral space, Taillard index, index of lumbar spinal curvature, angle of segmental and full lumbar lordosis after surgery, but there were no significant differences in different periods after operation. The fusion time of lumbar ranged from 4 to 8 months.

CONCLUSIONThe n-HA/PA66 cage can recover and maintain lumbar normal stability with higher rate of fusion and less complications.

Adult ; Durapatite ; administration & dosage ; Female ; Humans ; Intervertebral Disc Displacement ; surgery ; Lumbar Vertebrae ; surgery ; Male ; Middle Aged ; Nylons ; Spinal Fusion ; adverse effects ; instrumentation ; methods ; Spondylolisthesis ; surgery ; Tomography, X-Ray Computed

Objective To systematically assess the efficacy and safety of non-indwelling urinary catheter during perioperative period of cesarean section.Methods The databases including Medline(PubMed),EMbase,Cochrane Library,CNKI and WanFang Data were retrieved by computer.The randomized controlled trials (RCTs) on the efficacy and safety of non-indwelling urinary catheter during perioperative period of cesarean section were comprehensively collected.Two reviewers independently screened literatures,extracted the data and assessed the quality.The Meta-analysis was conducted by using RevMan 5.3 software.Results A total of 5 RCTs involving 1 090 patients were included.The meta-analysis results showed that compared with the indwelling urinary catheter group,although the non-indwelling urinary catheter group increased the incidence rate of urinary retention[RR=11.67,95%CI(2.22,61.24),P<0.01],but significantly decreased the incidence rate of urinary tract infection(UTI) [RR=0.10,95%CI(0.04,0.26),P< 0.01] and incidence rate of initial urination discomfort [RR=0.17,95%CI (0.04,0.74),P=0.02],significantly shortened the initial time of off-bed activities [SMD=-3.68 ,95%CI(-5.25,-2.12),P<0.01]and hospitalization time [SMD=-1.03,95%CI(-1.67,-0.38),P<0.01].There were no significant differences in the operation time[SMD=-0.13,95%CI(-0.32,0.07),P=0.20] and incidence rate of postpartum hemorrhage (PPH)[RR=1.50,95%CI (0.43,5.26),P=0.53],The incidence rates of bladder injury in the two groups were similar.Conclusion According to the evidence of current clinical researches,selecting non-indwelling urinary catheter in elective cesarean section is effective and safe,prompting that indwelling urinary catheter during the perioperative period of cesarean section is selective rather than routine indwelling.

Objective To evaluate the using of either 225 or 150 microgrammes of mifepristone combined with misoprostol for termination of second-trimester gestation(16～24 weeks).Methods 180 women requesting voluntary induced abortion during gestation 16～24 weeks were randomised to three groups,group 1:oral mifepris- tone 225rag,group 2:oral mifepristone 150mg,and group 3:injected 100rag rivanot by amniocentestis.The total suc- cess rate,once success rate,the interval of having-medicine to uterine-constraction,the volume of bleeding within 2 hours after labour and cervical laceration rate were observed.Results The once success rate of induced labour in group 1 was higher than that in group 2 and group 3(P