Objective To test the association between mitochondrial DNA(mtDNA) point mutations and praecox Parkinson's disease (PPD),and to investigate the characteristics of mtDNA mutations in Chinese patients with PPD. Methods Screening mtDNA A4336C, G5460A,A10398G,A13780G point mutations in 40 patients with PPD and 48 in control group was carried out by using Polymerase Chain Reaction (PCR), dot blotting, radiant developing. And sequencing was given to the nucleotide position (np)10256～np10577mtDNA of 20 patients with PPD and 20 subjects in control group.Results Out of the 40 patients with PPD, 20 (50%)had A10398G mutation. 6 (15%) had G5460A, 5(12.5%) had A13780G, 2 (5%)had A4336C, 19 (47.5%)had C10400T mutation. Out of the 48 controls, 7(14.6%) had A10398G, 24.2% had G5460A, 1 (2.1%)had A13780G and 20 (41.7%)had C10400T, but no any A4336C mutation was found in the controls. Thus, the ratios of A10398G,G5460A,A4336C,A13780G in patients with PPD were separately higher than those in the control group. Moreover significant difference was found in A10398G point mutation (P

Objective To analyze the clinical and ultrasonographic features of intraductal papillary mucinous neoplasm (IPMN) of the pancreas and to assess the usefulness of transabdominal ultrasonography. Methods Twelve patients with IPMN underwent surgery, including 4 (33.3%)with adenoma and 8(66.7%) with adenocarcinoma. IPMN was classified into 3 categaries by the site of main duct,branch duct and combined type based on the ultrasonographic findings preoperatively. All the clinical presentations and the ultrasonographic imaging findings were analyzed and compared with the histologic diagnosis. Results Of malignant IPMNs,diabetes was presented in 5 cases,elevated CA19-9 was presented in 4 cases and steatorrhea was presented in 2 cases. But these was not presented in benigns. Transabdominal ultrasonography revealed all the cystic or cystic-solid lesions in this study. The mean diameter of the lesions with adenoma was (1.4 ± 0.8)cm (range,0.5 - 2.0 cm) and that with adenocarcinoma was (6.3 ± 6.0)cm (range, 2.0 - 20 cm). The mean diameters of the main duct for the cases with adenomas and adenocarcinomas were (1.0 ± 0.8) cm and ( 1.6 ± 1.0) cm, respectively. Among the adenomas, 3 cases were calssified as branch type and 2 were demonstrated with mural nodules and no colour signals was detected within them. Five of the malignancies were considered as main duct type and 3 were combined type. Seven cases were detected mural nodules and showed abundant colour flow signals within them. Conclusions Transabdominal ultrasonography revealed the pancreatic cystic lesions and dilated ducts of IPMN. Some characteristics should be considered for malignancy: clinical symptoms, tumor size and mural nodules with colour flow signals,which may be helpful for the diagnosis and management of IPMN.

Objective To investigate the value of multislice spiral CT (MSCT) with three-dimensional reconstruction technique in the diagnosis of anatomical structure and variation related disease of ostiomeatal complex. Methods A to-tal of 200 cases of chronic sinusitis patients with normal or variant ostiomeatal complex were retrospectively analyzed with thin layer reconstruction CT images. Results Among these 200 cases, deviation of nasal septum was the majority, accounting for 62.0%. Excessive gasification of ethmoid bulla and middle turbinate gasification were 37.0% and 36.5%respectively . No significant difference was observed between them . The haller cells and uncinate deviation bend accounted for 33.0% and 22.0% separately. Curved middle turbinate accounted for 13.0%. The agger nasi was the least, accounting for 12.5%. Conclusion Three-dimensional reconstruction of MSCT can show the anatomical variations of sinus-nasal as well as the extent of chronic sinusitis clearly, which has important clinical significance on treatment.

Objective To investigate the diagnositic value of ultrasonography in fetuses with cystic biliary malformation. Methods Three cases of cystic biliary malformation diagnosed in our hospital by prenatal ultrasound were followed up until surgery after birth. Results In all three cases.an anechoic cystic lesion was detected in the right upper abdomen at 16,26,34 weeks' gestation respectively, which were diagnosed as biliary cystic malformation by prenatal ultrasound. Two cases were confirmed as choledochal cyst by surgery, one case as biliary atresia. The maximum diameter during pregnancy of choledochal cyst were 3. 9 cm and 4.2 cm respectively, which increased steadily as gestational age advanced, with normal gallbladder in continuity with the choledochal cyst. But the largest diameter of the cyst in congenital biliary atresia was 1.7 cm and remained unchanged throughout the remaining pregnancy, the gallbladder could not be detected or an irregular small gallbladder was shown. Excision of the cyst and Roux-en-Y hepaticojejunostomy were successfully performed in all three cases. Postoperative course were uneventful. Conclusions Cyst diameter, change in size, gallbladder ultrasound pattern may allow to make a prenatal differential diagnosis of biliary tree cystic malformation. Small and stable cyst with an undetected gallbladder or small gallbladder is more suggestive of biliary atresia than choledochal cyst. Precise imaging may facilitate prenatal counseling and perinatal management. The outcomes had improved with earlier operations.

Objective To determine the diagnostic value of two and three dimensional ultrasound in detecting fetal hand malformations. Methods In the retrospectively analysis,the severe fetal hand malformations detected by prenatal ultrasound during the recent three years in our hospital were classified according to the prenatal sonographic characteristics,family history,karyotype analysis and autopsy results,etc.Results Fourteen fetuses with hand-anomaly were detected during the 16-28th week of gestation,both hands were affected in 10 cases,with the same morphology bilaterally in 8 cases.Thirteen cases had other abnormal sonographic findings.They were detected and classified into three categories,Wrist deformity (9 cases),three fetuses were associated with total absence of radius and radial clubhand,and six fetuses had palmar deviated hands,with various etiologies including familial hereditary arthrogryposis multiplex congenita,distal type 1 (AMCD1),amniotic band syndrome,body stalk anomaly,trisomy18 and micromelia.Hand (figer) hypoplasia or aphasia (3 cases),one hand was absent in one fetus without associated anomaly,absence of five fingers with ipsilateral multicystic dysplastic kidney in the second fetus,and the third fetus had split hand/foot malformation (SHFM).Overlapping fingers (4 cases),three of them were trisomy18,and two fetuses had both wrist deformity and overlapping fingers.Conclusions Prenatal two and three dimensional ultrasound play an important role in detecting and diagnosing severe type of fetal hand malformations.

ObjectiveTo evaluate the diagnostic capability of prenatal ultrasound in diagnosis of fetal akinesia deformation sequence (FADS).MethodsThe prenatal sonographic characteristics of 5 fetuses with FADS were analyzed retrospectively.ResultsBoth multiple joint contractures and central nervous system (CNS) anomalies,which include 5 small head circumferences,2 short cerebellar diameters,and 1 flat forehead,were found by prenatal ultrasound in all 5 FADS fetuses.Additional fetal abnormalities such as micrognathia,polyhydramnios,short umbilical cord and intrauterine growth retardation were also observed.The results of fetal chromosome analysis were available in 2 cases indicating normal karyotype.Conclusions Prenatal identification and diagnosis of FADS is possible based on the findings of sonographic examination.

Objective To investigate the incidence and distribution of fetal discrepancy during the first trimester in dichorionic twins.Methods This was a prospective analysis of dichorionic twin pregnancies that underwent 11+0～ 13+6 week scan at a tertiary hospital from Sep 2008 to Oct 2010.Differences in crown-rump length (CRL),nuchal translucency ( NT),heart rate ( HR).deepest vertical pockets of amniotic fluid (DVP) for every pair of twin fetuses were calculated and expressed as absolute value and percentage of discordance.Results A total of 66 dichorionic twin pregnancies were included.The average CRL was significantly different between the larger fetus and the smaller one,which were (65.28 ±8.54)mm and (62.34 ± 8.49) mm respectively ( P ＜ 0.001).The average NT was significantly different between two fetuses,which were ( 1.56 ± 0.35) mm and (1.28 ± 0.30) mm respectively. HR and DVP were also statistically different between two fetuses ( P ＜0.001).Conclusions The growth of two fetuses in normal dichorionic twins is not uniform during the first trimester.

Objective To investigate the diagnostic value of prenatal ultrasonography in the fetal hemivertebra. Methods The ultrasonographic findings of three fetuses with hemivertebra diagnosed in our hospital were reviewed and compared with those of postnatal ultrasonography,other image modalities,and autopsy. Results In all fetuses,a distortion of the spine was observed where only one half of the vertebra could be identified. The parents opted for termination of the pregnancy in one case and the deformity was confirmed by autopsy. The other two fetuses were delivered and in one fetus the diagnosis was confirmed by radiological assessment. Conclusions Hemivertebra can be diagnosed accurately by second-trimester ultrasonography. The prognosis is mostly favorable when no other anomalies are associated. Meticulous examination may disclose the lesion and help decide the fate of pregnancy.

Objective To evaluate the differences among five representative and useful Doppler parameters in the diagnosis of the three common types of renal artery stenosis (RAS). Methods Five Doppler parameters including renal peak systolic velocity (RPSV), renal-aortic ratio (RAR), renal-interlobar ratio (RIR),acceleration time (AT),and resistant index (RI) were measured in 221 patients before renal arteriography. Differences between the groups of patients with various clinical causes of RAS were analyzed by Chi-Squared test. One-way ANOVA or t test were used to compare the means between different groups.The optimal cutoff value was determined with the maximum sum of sensitivity and specificity. Results Of the 442 renal arteries (main and accessory renal arteries) demonstrated at arteriography,214 were normal or stenosed less than 50 %, 204 stenoses 50% - 99 %, and 24 occlusions. RIR, RAR and RI were significantly different between the atherosclerotic and non-atherosclerotic RAS groups (P ＜0.05), while RPSV and AT were not. The optimal cutoff values of RAR,RIR and RI for detecting RAS between the atherosclerotic and non-atherosclerotic groups were much different (2.5 versus 1.9, 5. 1 versus 6.5, 0.57 versus 0.50,respectively) ,but those of RPSV and AT were similar or the same (170 cm/s versus 200 cm/s,51 ms versus 51 ms,respectively). Conclusions In the case of RAS (diameter reduction≥50%),it is advised to establish separate cutoff values of RAR, RIR and RI according to atherosclerotic and non-atherosclerotic RAS, but the same cutoff value of RPSV and AT can be applied. RIR is a good Doppler parameter in the diagnosis of RAS,especially atherosclerotic and fibromuscular dysplasia RAS.

Objective To investigate the clinical value and method of fetal tricuspid regurgitation in the first trimester.Methods Fetuses were performed ultrasonography at 11 to 14 gestational weeks,measuring crown rump length,nuchal translucency and acquiring tricuspid waveform.All the fetuses were followed up until 6 months after birth,including prenatal ultrasound examination,maternal serum biochemistry and karyotype test.Results A total of 262 fetuses were performed ultrasonography in the first trimester,the tricuspid waveform were acquired successfully in 249 (95%).Nine cases with tricuspid regurgitation were detected,including 3 cases of trisomy 21,3 cases with complex heart defects,one case with omphalocele,two resulted in intrauterine death and one case of normal chromosome and phenotype.Conclusions Tricuspid waveform is relatively easier to examine and assessment.Tricuspid regurgitation is a useful first-trimester ultrasound marker for the detection of chromosomal abnormalities,cardiac defects,and adverse pregnancy outcome.