Objective To summarize the phenotypic features of an unrecognized leukoencephalopathy in infants sharing same clinical features,and to better understand the disease and provide new evidence for identification of new leukoencephalopathy. Methods Clinical and follow-up data of 13 patients with unrecognized infantile leukoen-cephalopathy were collected from Peking University First Hospital from January, 2006 to December, 2014. Results (1) There were 7 male and 6 female. The average age of onset was 11 months (4-25 months). Thirty-eight percent (5/13 cases) of patients had incentives before the onset;all of the cases had acute onset and rapid motor function regression. Fifteen percent (2/13 cases) of the patients suffered from seizures in the course of the disease. Patients′condition became stable,and cognition and motor function improved gradually 1 month after onset. No patient died till the last follow-up. (2) Imaging features:magnetic resonance imaging (MRI) of the patients was characterized by im-plicating deep white matter,presenting T1 hypointense,T2 and fluid attenuated inversion recovery ( FLAIR) hyperin-tense in the periventricular area. All of MRI showed massive and symmetric lesions with heterogeneous signal and cystic degeneration. DWI showed patch or massive hyperintense in some of the lesions. The follow-up MRI showed the original lesions decreased in 88% ( 8/9 cases ) of patients, and white matters atrophied in 55% ( 5/9 cases ) of patients;the cystic degeneration still existed and even expanded;DWI showed regional linear or spot hyperintense in 88% (8/9 cases) of patients,which was smaller than before,and distributed around the original lesions. Conclusions The patients with leukoencephalopathy caused by unknown pathogenic gene were much likely to be mitochondrial leukoencephalopathy. This study provided evidence for further exploration of new pathogenic genes causing leu-koence-phalopathy.

Objective To explore the imaging characteristics of the ovarian thecoma-fibroma.Methods The clinical imaging characteristics of 25 patients with thecoma-fibroma were retrospectively analyzed. Results A total of 27 lesions were seen in 25 patients, and the maximum diameter of the tumors was 1.2 - 15.0 cm, with an average diameter of 6.9 cm. The tumors whose maximum diameter larger than 6 cm were mainly as cysticsolid. Twenty-six lesions were well-defined margin, and 14 lesions were round and oval masses, 9 lesions were lobulated masses, 3 lesions were irregular masses, and 1 lesion presented with unclear boundary. A total of 10 lesions in 9 cases were performed with CT scan, and the density was similar to uterine muscle density. In MRI scan of a total of 17 lesions of 16 cases, all lesions showed hypointensity on T1WI. On T2WI, 8 lesions showed slightly hyperintensity, 7 lesions appeared slight hypointensity, and 2 lesions appeared significantly hypointense. Eight lesions showed slit hyperintensity. Enhancement scanning was performed in seven cases. Five cases showed mild to moderate enhancement, 1 case was enhanced obviously, and 1 case was not strengthened. Conclusions The imaging findings of the ovarian thecoma-fibroma have somewhat features and can indirectly reflect pathology of tumor. Combined with the clinical data, imaging characteristics are is helpful to the diagnosis and differential diagnosis of the disease.

Establishing a stable resin-dentin hybrid layer is an effective method to improve the adhesion durability of the restoration. The biomodification of dentin by cross-linkers can enhance the mechanical properties of collagen and resistance to enzymatic hydrolysis while, inhibiting the process of demineralization and promoting the remineralization of dentin, which has the potential clinical applicability of preventing dental caries and improving adhesive property. This review summarizes the biomodification of dentin type Ⅰ collagen by different cross-linkers.

Objective: To observe the effect of adenosine triphosphate (ATP) phosphorylation on type Ⅰ collagen mineralization and explore the role of small molecule compound ATP in biomimetic mineralization. Methods: Fourier transform infrared spectroscopy (FT-IR) was used to analyze the phosphorylation of collagen molecules by different concentrations (0, 25, 50, 100 mmol/L) of ATP. The concentration of 50 mmol/L ATP was chosen to construct the phosphorylated collagen mineralization model. Transmission electron microscopy (TEM) was used to observed the ultrastructure of mineralized collagen and the collagen mineralization rate was further calculated by ImageJ software. The surface morphology of the collagen gel ATP group and the control group was observed by scanning electron microscopy (SEM) and the elemental analysis was performed by using an X-ray energy spectrometer. The artificial demineralized dentin samples were mineralized for 2 days and 4 days to compare the effect of ATP on dentin remineralization by SEM. Results: FT-IR analysis showed that the formation of new peaks at wavenumbers of 642, 818, and 902 cm^-1 indicated that ATP can phosphorylate type Ⅰ collagen. Through TEM and SEM observation, the mineralization degree of type Ⅰ collagen and demineralized dentin pretreated with 50 mmol/L ATP were significantly higher than that of the control group. Compared with the control group [(31.65±1.62)%], the mineralization rate of collagen in the ATP group [(100±0)%] was significantly increased after 2 days of mineralization (P<0.05). Conclusions ATP phosphorylation can effectively promote the mineralization process of type Ⅰ collagen.

OBJECTIVETo investigate Lanzhou area cases of hepatitis C virus (H-CV) infection with a 5'-non coding region (NCR) 2i genotype and core (C), envelope protein (E) and non-structural protein (NS5) 2a genotype and the relationship with therapeutic response to interferon-alpha (IFNa).

METHODSNine patients who received IFNa-based treatment for HCV between 2007 and 2009 at the Second People's Hospital of Gansu Province were selected for analysis.Restriction enzyme analysis was carried out for the 5'-NCR and sequencing was carried out for the other gene areas.The relationship between genetic variants and IFNaresponse was examined.

RESULTSOf the total nine HCV cases treated with IFNa-based therapies, five of the patients achieved sustained virological response (SVR), which included two cases with type 2 genotype and three cases with no MboI restriction enzyme point of tangency (i.e.type 1b). The remaining four patients that did not achieve SVR included one case of type 2a, with a 1b and 2a mixed state, and one case with 5'-NCR 2i genotype and C area, NS5 area 2a genotype; the other two cases had 5'-NCR and C area type 1b. Of the five cases with 5'-NCR 2i genotype, all had C 2a genotype and two had C/E 2a and NS5 2a genotypes.The seven patients that showed no response to ordinary IFNa were converted to long-term IFNa plus ribavirin combination antiviral treatment; five (71.4%) of the cases showed response in HCV RNA level and the patients treated with the pegylated form showed greater response.

CONCLUSIONHCV genotyping can only provide information on the particular region of gene sequence examined, and it is important to sequence all gene regions where mutations related to antiviral drug response are located. Peg-IFNa-2a combined with ribavirin may achieve better therapeutic effect in patients infected with 2i/2a recombinant forms of HCV.

Angiogenesis Inhibitors ; Antiviral Agents ; Drug Therapy, Combination ; Genetic Variation ; Genotype ; Hepacivirus ; genetics ; Hepatitis C, Chronic ; drug therapy ; Humans ; Interferon-alpha ; Open Reading Frames ; Polyethylene Glycols ; Recombinant Proteins ; Recombination, Genetic ; Ribavirin ; Treatment Outcome

Objective To evaluate the value of contrast-enhanced ultrasound (CEUS) in detection of synovial hyperplasia in wrist joint of patients with rheumatoid arthritis (RA) and to explore the correlation with disease activity . Methods Thirty-nine RA patients with their wrist involved were examined by CEUS . The imaging features of synovitis were observed and the analysis of time intensity curve ( TIC ) was performed by contrast dynamic software . Some quantitative parameters were obtained from these fitting curves including basic intensity ( a0 ) ,increased intensity ( a1 ) ,descending slope ( a2 ) ,ascending slope ( a3 ) , timetopeak(TTP),peakintensity(PI),actualpeakintensity(PI-a0),arrivaltime(AT),andareaunder the curve ( AUC) . And the correlation between these parameters with clinical activity index was analyzed . Results 35 .9％ (14/39) synovitis showed a centripetal enhancement pattern supplied by ring-like or arc-shaped arterials peripherally while 64 .1％ (25/39) showed diffusely entire enhancement . All the lesions were heterogeneous enhanced ,87 .2％ (34/39) of which exhibited hyperenhancement . The detection rate of perfusion defects was 41 .0％ (16/39) . The disease activity in the diffuse enhancement group was higher than that in the centripetal enhancement group ( 4 .64 ± 1 .09 vs 3 .69 ± 0 .67 , P = 0 .005 ) . CEUS quantitative parameters a3 and ( PI-a0 ) were positively correlated with erythrocyte sedimentation rate ( ESR) ( r =0 .465 , P =0 .006 ;r =0 .325 , P =0 .043) ,however TTP had a negative relationship ( r = -0 .352 , P =0 .041) . Conclusions Active synovitis usually represents as a diffuse enhancement pattern . A higher a3 and PI ,and a shorter TTP indicate a higher disease activity . CEUS plays a great role in monitoring RA disease activity both from qualitative and quantitative aspect .

Objective: To reveal the clinical and genetic features of neonatal/infantile epileptic disorders caused by KCNQ2 mutations and to provide a clue for the treatment and prognosis evaluation. Methods: Twenty-two patients were collected in the Department of Pediatrics, Peking University First Hospital from April 2007 to July 2016.The phenotype-genotype analysis was conducted of the neonatal/infantile epileptic patients in whom a KCNQ2 mutation was identified by the targeted next generation sequencing. Results: Twenty-two de novo KCNQ2 missense mutations from 22 patients with neonatal/infantile epileptic disorders were found.These patients had an onset of epilepsy in early infancy (median age: 2 days). The seizure type of the first onset was mainly focal seizure.Atypical absence epilepsy, a novel phenotype of KCNQ2 mutation-induced epilepsies was found.The mortality of these patients was high, as 5 patients of the 22 patients died in the follow-up period, 4 of which might result from sudden unexpected death in epilepsy.In the 22 patients, 8 patients with anti-epileptic monotherapy became seizure-free.Of the 8 patients with a monotherapy, 3 patients were treated with valproic acid and no clinical onset was observed. Conclusions This study expands the phenotype of KCNQ2-related epileptic disorders.These patients have high mortality.Valproate acid is the potentially effective monotherapy for these patients.

The discussion and research on the clinical dominant diseases of traditional Chinese medicine （TCM） have attracted increasing attention. Through approaches including modern technology， evidence-based medical methods， and multi-disciplinary treatment， we should construct a sound TCM inheritance and innovation system， establish a collaborative innovation mechanism， and integrate major research projects， striving to make breakthroughs in TCM theory， methodology， standards， and regulation system， promoting the scientific and technological progress of TCM， and thereby improving its curative effect. The China Association of Chinese Medicine （CACM） carried out a series of youth salon seminars for clinical dominant diseases in TCM， discussing and sorting out the advantages of the dominant diseases in clinical diagnosis and treatment of TCM and integrated traditional Chinese and western medicine in specific diseases or fields. Authoritative experts in the industry were invited to give comment and guidance to form a report. Centering on clinical research of dominant diseases， thematic research was carried out in the aspects of practice， human experience-based evidence， and transformation path. Through the systematic study of the dominant diseases， the advantages of TCM in different stages of disease treatment were excavated to constantly improve the prevention and treatment ability of TCM and carry forward the advancement of TCM theory and practice. At the same time， the communication and understanding between traditional Chinese and western medicine were improved， laying the foundation for the further formation of industry guidelines or consensus and comprehensive promotion. These seminars are expected to provide references for the development of policy planning， clinical diagnosis and treatment， health economy， and social services in TCM and lay the foundation for the formation of a new modern diagnosis and treatment system with Chinese characteristics.