Background In recent years,rare diseases have become a major public health issue.There is an urgent need to improve the diagnosis and treatment for these diseases,and the training for doctors engaged in rare diseases is an important part of it.Methods This study conducted a questionnaire survey on the doctors engaged in rare diseases in Peking Union Medical College Hospital to better understand their characteristics and evaluate their psychological and working status.Results A total of 95 questionnaires from doctors engaged in rare diseases were collected in this study,among which the female:male ratio was 1.6∶1,and 63.2％of them were in the 40-54 age group.Their main reason for choosing rare diseases was the enjoyment in the process of studying rare diseases(64.2％).Compared with the 108 doctors not engaged in rare diseases surveyed during the same period,those working on rare diseases reported higher patient recognition based on self-evaluation(P＜0.001).In terms of the time-consuming work,in addition to routine medical work,teaching and research,34.7％of doctors engaged in rare diseases chose doctor-patient communication and 31.6％chose medical man-agement communication.Conclusions This study proposes some suggestions on the talent training for rare dis-eases,the establishment of continuing education platforms,and the technology and policy support needed through the analysis of the questionnaire survey results of doctors engaged in rare diseases.

In recent years,with the development of gene testing and new drug research,the diagnosis and treatment of inherited diseases have made rapid progress,corresponding to higher requirements for genetics education.As a teacher of medical genetics,the author joined the course remodeling during last 10 years from a web-based study of genetic disorders to a"case-based learning"supported by flipped classroom in order to optimize teaching effects and learning outcomes.The result of this remodeling project proposes a new strategy to guide perspectives course de-sign in future.

Objective To evaluate the imaging features of hepatic epithelioid angiomyolipoma (EAML) on contrast-enhanced ultrasound (CEUS). Methods The imaging features of pathologically proved hepatic EAML lesions in 17 patients who had undergone baseline ultrasound and CEUS examinations were evaluated retrospectively. Results All of the cases were single lesion.70.6% (12/17) of the lesions were hypoechoic on ultrasound and 82.4% (14/17) of the lesions were heterogeneous.Flow signals were detected in 88.2% (15/17) of the lesions and 82.4% (14/17) of the lesions showed ringlike or arc arterials peripherally on color Doppler flow imaging (CDFI).The value of RI was 0.38-0.56.On CEUS,all lesions exhibited remarkable hyperenhancement in the arterial phase. 29.4% (5/17) of the lesions showed branched enhancement,70.6% (12/17) of the lesions showed diffusely entire enhancement.Strong ring-like enhancement peripherally was detected in 29.4% (5/17) of the lesions.88.2% (15/17) of the lesions were detected homogeneously enhancement during the peak period on CEUS. Washout of contrast agent and hypoechogenicity to surrounding liver tissue during portal or late phase were observed in 41.2% (7/17) and 64.7% (11/17) of the cases retrospectively.Conclusions The combination of real-time CEUS and baseline US can improve the correct diagnosis of hepatic EAML.

Objective To investigate the imaging features of dysplastic nodules with a focus of hepatocellular carcinoma ( DN-HCC ) on contrast-enhanced ultrasound ( CEUS ) and to improve the diagnostic accuracy . Methods The clinical data of 60 patients and CEUS imaging of 62 hepatic nodules [DN-HCCs , n =54 ;dysplastic nodules (DN) , n =8] pathologically proved were reviewed retrospectively . According to Contrast Enhanced Ultrasound Liver Imaging Reporting and Data System (CEUS LI-RADS) , the lesions were categorized . Results Significantly different CEUS patterns between DN-HCCs and DNs were observed ( P < 0 .05) . During the arterial phase ,54 DN-HCC lesions showed various enhancement patterns [ hypervascular ,59 .3％ ( 32/54 ) ;nodule-in-nodule ,9 .3％ ( 5/54 ) ;isovascular ,13 .0％ ( 7/54 ) and hypovascular ,18 .5％ (10/54)] . Of the 54 DN-HCC lesions ,44 .4％ (24/54) showed washout during the late phase .Of the 8 DN lesions ,62 .5％ (5/8) showed iso-enhancement during the arterial phase ,25％ (2/8) showed hypo-enhancement ,and 12 .5％ (1/8) showed hyper-enhancement . No DN lesion showed washout during the late phase .According to CEUS LI-RADS (LR) algorithm ,27 .8％ (15/54) DN-HCCs were LR-5 ,46 .3％ (25/54) DN-HCCs were LR-4 ,25 .9％ (14/54) DN-HCCs and 100％ (8/8) DNs were LR-3 . Regarding hyper-enhancement ( including local hyper-enhancement ) during the arterial phase or hypo-enhancement (including local hypo-enhancement) during the late phase as the diagnostic standard of DN-HCC , the diagnostic sensitivity , specificity and accuracy value were 83 .3％ , 87 .5％ and 83 .9％ , respectively . Conclusions The imaging features of hyper-enhancement during the arterial phase or hypo-enhancement during the late phase on CEUS are useful to diagnose DN-HCCs .

Objective To investigate the infection rate and distribution of human papillomavirus type 39 in Beijing.Methods HPV genotyping detection coupled with cytological test of cervical exfoliated cells within 30 days were used for the patients from the People's Liberation Army General Hospital,between January 2013 to July 2014.Full-length genomes were amplified for the HPV39 positive samples.Results Among 19 018 samples,518 were HPV39 positive (2.72％).Two peaks were observed in the age groups 21-25 and 46-50 years old,with positive rate of 2.98％ and 2.44％ respectively.The prevalence of HPV39 in low-grade squamous intraepithelial lesion (LSIL) was 18.52％,higher than other cervical lesion groups.In addition,full-length genome amplifications were successful in five HPV39 positive samples.Conclusions In the studied population,HPV39 showed two increases in age groups,and abundance in LSIL.Episomal form of HPV39 viral genomes existed in the samples.

Objective: To study the relationship between plasma level of N-terminal B-type natriuretic peptide (NT-proBNP) and ventricular diastolic dysfunction in elder hypertensive patients without target organ damage.
Methods: A total of 66 relevant patients treated in our hospital from 2012-03 to 2014-03 were studied. According to the standard of ventricular diastolic dysfunction, the patients were divided into 2 groups: Study group, n=27 patients with diastolic dysfunction and Control group, n=39 patients without diastolic dysfunction. The patients in Study group were further divided into 3 sub-groups based on Doppler classification of diastolic dysfunction:Grade 1, the patients with E/A<1.0, DT≥240 ms, IVRT>90 ms, n=8. Grade 2, the patients with E/A>1.5, DT (150-220) ms, IVRT<90 ms, n=13. Grade 3-4, the patients with E/A>1.5, DT≤150 ms, IVRT<70 ms, n=6. Plasma levels of NT-proBNP and Doppler ultrasound findings were compared to study the relationship between
NT-proBNP and ventricular diastolic dysfunction.
Results: Plasma level of NT-proBNP was higher in Study group than that in Control group. NT-proBNP level in Grade 3-4 sub-group was obviously higher than those in Grade 1 and Grade 2 sub-groups, NT-proBNP level in Grade 2 sub-group was higher than that in Grade 1 sub-group. Pearson correlation analysis indicated that NT-proBNP level was positively related to systolic blood pressure, diastolic function and E/E’ (r=0.211, P=0.037, r=0.442, P=0.004 and r=0.556, P=0.000), while negatively related to E’/A’ (r=-0.372, P=0.000).
Conclusion: The increased plasma level of NT-proBNP are highly support for ventricular diastolic dysfunction in elder hypertensive patients without target organ damage, NT-proBNP level is related to ventricular diastolic function.

Objective To investigate the infection rate of human papillomavirus (HPV) type 51 in the high-risk HPV(HR-HPV) tested positive samples and discuss the state of HPV51 in the host.Methods HR-HPV tested positive samples were tested by PCR methods to investigate the infection rate of HPV51 and the whole genome of HPV51 was amplified by PCR methods.Results 21 cervical samples were positive in 204 HR-HPV tested positive samples.We got five HPV51 whole genomes successfully.Conclusion The infection rate of HPV51 was 10.3％ and HPV51 genomes existed in an episomal state in the host.

Objective Persistant human papillomavirus (HPV) is an inducer for cervical cancer,meanwhile,HPV transmission is via sexual activity.HPV genotyping for male external genitalia is important to learn HPV mechanism in the cervical tumorgenesis.Methods In this study,we collected the exfoliated cell samples from male external genitalia at Department of Obstetrics and Gynaecology Chinese PLA General Hospital.Results Among 200 samples,the detection for high-risk HPV showed 66 positive (33.0％).With a descending order,the genotypes of the HPV were 16,58,51,39,52,31,59,68,56,33,18,35 and 45.Conclusion The spectrum of HPV genotypes in two hundreds of exfoliated cell samples from male external genitalia was consistent with that in the cervical sample from female population.

Objective To investigate enhancement appearance of hepatic focal nodular hyperplasia(FNH) at real-time gray-scale contrast enhanced ultrasonography(CEUS),and evaluate the value of CEUS in the diagnosis of FNH. Methods Thirty-four patients (36 lesions) with histologically proved FNH were examined by ultrasonography. Appearance on conventional ultrasonography and the enhancement pattern on CEUS were investigated. Results Thirty-six lesions were mostly hypoechoic.39% (14/36) of lesions had peripheral hypoechogenic circle. Color Doppler flow imaging showed a asteroid-like or spoke-and-wheel pattern in 65% (20/ 31) of lesions.Three enhancement patterns were observed in the early arterial phase: whole-enhancement pattern (28%, 10/36), gushing-spring enhancement pattern (44%, 16/36), and spoke-and-wheel enhancement pattern (28%,10/36).The frequency of central scar on CEUS was 17% (6/36), and detection rate of central scar by CEUS compared with pathology was 40% (6/15).Regarding one of the features (gushing-spring enhancement, spoke-and-wheel enhancement and scar) as standard of FNH, the coincidence of CEUS in this group was 78% (28/ 36) ,which was significantly higher than that of conventional ultrasonography 28% (10/36).Conclusions CEUS can be as a important method for diagnosing FNH.