Objective To detect PAH gene mutations in classical PKU patients by HRM analysis. MethodsMutation scanning of PAH gene were performed in 17 classical PKU patients by HRM analysis ( LightScanner), covering the 13 exons and exon-intron boundaries. The HRM results were further confirmed by DNA sequencing, and the sensitivity and specificity of HRM method in PKU diagnosis were also evaluated. In addition, prenatal diagnosis was performed in two fetuses at risk for classical PKU. Results In the 17 patients, two mutations were identified in 16 patients, three mutations were identified in 1 patient.In this subject, a total of 22 different pathogenic mutations : 194V( c. 280A ＞ G), IVS4nt-1 G ＞ A( c. 442-1G ＞ A), R158Q( c. 4736 ＞ A), Q160X( c. 478C ＞ T), W187X( c. 561G ＞ A), E6nt-96A ＞ G( c. 611A ＞G), G239D( c. 716G ＞ A), R241 C( c. 721C ＞ T), R243Q( c. 728G ＞ A), G247R (c. 739G ＞ C), G247V (c. 740G＞T), R261X(c. 781C ＞T), PR261Q(c. 782G ＞ A), H264R (c. 791A ＞ G), F302fsX39 (c. 904delT), E305K( c. 913G ＞ A), G312V( c. 935G ＞ T), Y356X( c. 1068C ＞ A ), V399V ( c. 1197A ＞T), R408Q(c. 1223G ＞ A), T418P(c. 1252A ＞ C) , A434D(c. 1301C ＞ A), 3 silent mutations Q232Q (c. 696G ＞ A), V245V(c. 735G ＞ A), L385L(c. 1155C ＞ G), and one single nucleotide polymorphism rs2280615 ( c. 402A ＞ C) were identified, of which 194V ( c. 280A ＞ G), Q160X ( c. 478C ＞ T), H264R (c. 791A ＞ G), G312V( c. 935G ＞ T) and E305K ( c. 913G ＞ A) were novel mutations identified in PAH gene. The prenatal diagnosis results of the two fetuses : one was diagnosed as normal, the other was diagnosed as a carrier. In this study, the sensitivity and specificity for mutation detection by HRM were 100％, and the HRM results were consistent with DNA sequencing results. Conclusions HRM analysis is a simple,accurate, rapid, high-throughput and low-cost genetic analysis approach. It could be applied to mutation scanning of classical PKU of PAH gene and rapid prenatal diagnosis in parents with known mutations.

OBJECTIVE To analyze the epidemiological characteristics,the efficiency of the surveillance system for nosocomial infections in our hospital,the sensitivity,specificity and timeliness of case reporting and to evaluate the efficiencies of the monitoring and reporting system.METHODS We reviewed the nosocomial infection reporting data in the year of 2005 and identified all the reported cases,confirmed cases and under-reported cases.Sensitivity and specificity of the reporting system were calculated based on these data.RESULTS The incidence of nosocomial infection was 3.04% in 2005.A majority(72.07%) of the cases were reported within 7 days of occurrence.Respiratory tract infection accounted for 57.75% of all nosocomial infections and was by far the most common site of concern.The rates of false positive reporting ranged from 14-37% and were statistically significantly associated with the sites of the infection(P

Objective To investigate the iodine nutritional status of targeted population in the high-risk areas of iodine deficiency disorders in Chongqing, so as to provide scientific evidence for establishing prevention and remedial measures. Methods Six towns were selected in Chengkou and Wuxi Counties to found suspected dementia patients born after first Jan, 1997. Two hundred children aged 8-10 years were investigated in every town. The thyroid volume, intelligence quotient(IQ) and urinary iodine of the children were examined. Forty women (pregnant and nursing women) were investigated in every town. The iodine content of salt from their home was measured. The thyroid volume was examined by palpation and B-uhrasound. IQ was measured by combined Raven Test in China(CRT-RC2). Urinary iodine was determined using the acid digest arsenic-cerium contacting method, and iodined salt was detected using direct titration method. Results Six suspected dementia patients were found in the local town hospital. Five eases were excluded. There was 1 case born in other place. The rates of goiter by palpation and B-ultrasound were 9.58%(92/960) and 8.89%(65/731), respectively. The median of urinary iodine of children and women was 319.15 μg/L and 248.42 μg/L, respectively. The mean of IQ of the children was 103.32. The coverage rate of iodine salt from residents was 98.82%(336/340). Conclusions The iodine nutrition of children was good and there is no newly occurred cretinism in Chengkou and Wuxi Counties. Goiter rate and median of urinary iodine aged 8-10 years and of women, coverage rate of iodine salt from resident has meet the standard set for basical elimination iodine deficiency disorders.

ObjectiveTo investigate the application of next-generation sequencing (NGS) in determining the full-length sequence and baseline resistance-associated substitution (RAS) of hepatitis C virus (HCV) subtype 3b. MethodsNucleic acid was extracted from plasma of a HCV RNA-positive blood donor, and after sequence-independent amplification, a sequencing library was constructed and NGS was performed using Illumina Hiseq. Bioinformatics methods were used to analyze full-length HCV sequence, viral genotype, and baseline RAS to direct-acting antivirals (DAAs). ResultsA total of 8.4 Gb data with more than 56 million reads were obtained. The full-length HCV sequence was obtained by bioinformatics analysis, with an average sequencing depth of 488 007 and a genotype of 3b subtype. A total of 12 RASs were identified in HCV amino acid sequence, i.e., Y56H, Q80K, Q80R, and A156G located in NS3, M28G, Q/A30G, Q/A30K, L31F, L31M, and Y93H located in NS5A, and S282T and V321A located in NS5B, among which Q/A30K and L31M located in NS5A had high frequencies of 99.16% and 98.37%, respectively, while the other 10 RASs had low frequencies of ＜0.5%. ConclusionNGS can be used to determine the full-length sequence and genotype of HCV subtype 3b and identify baseline RASs, which has great significance in the epidemiological study of HCV subtype 3b and the development of DAA treatment regimens.

In order to develop a rapid detection kit for novel avian influenza virus (AIV) subtype H7N9, two sets of specific primers and probes were designed based on the nucleotide sequences of hemagglutinin antigen (HA) and neuraminidase antigen (NA) of novel H7N9 virus (2013) available in GenBank to establish the method of TaqMan probe-based multiplex real-time RT-PCR for rapid detection of AIV subtype H7N9. The primer and probe of HA were for all H7 subtype AIVs, while the primer and probe of NA were only for novel N9 subtype AIVs. The results showed that this method had high sensitivity and specificity. This method was applicable to the testing of positive standard sample with a minimum concentration of 10 copies/microL; it not only distinguished H7 subtype from H1, H3, H5, H6, and H9 subtypes, but also distinguished novel N9 subtype from traditional N9 subtype. A total of 2700 samples from Zhuhai, China were tested by this method, and the results were as expected. For the advantages of sensitivity and specificity, the method holds promise for wide application.
Animals ; Birds ; virology ; Influenza A Virus, H7N9 Subtype ; genetics ; isolation & purification ; physiology ; Influenza in Birds ; prevention & control ; virology ; Real-Time Polymerase Chain Reaction ; methods ; Species Specificity ; Taq Polymerase ; metabolism ; Time Factors

OBJECTIVETo determine the mechanism of pseudo-tears of the lateral meniscus caused by the transverse geniculate ligament (TL) and the miniscofemoral ligament(MFL) and to investigate a method to differentiate pseudo-tears from true tear of the lateral meniscus.

METHODSForm June 2012 to February 2014, MR examinations of 72 knees (44 left knees and 28 right knees) without tear of the lateral meniscus verified by arthroscopy were performed in the sagittal and coronal plane. There were 41 males and 31 females in the group, with an average age of 33.7 years old (ranged from 25 to 61). The MR appearance of the TL and the MFL was carefully observed.

RESULTSThere existed fatty tissue in the gap between the TL and the anterior horn of the lateral meniscus and its central tendinous attachment. On the sagittal images, the fatty tissue formed a linear high-signal cleft between the TL and the anterior horn of the lateral meniscus. This might be mistaken as an oblique tear within the anterior horn of the lateral meniscus. It was called as pseudo-tears of the anterior horn of the lateral meniscus. In sagittal plane, the MFL was identified as a circle-like or short stick-like area of low signal intensity anterior or posterior to the posterior cruciateligament. Nevertheless, a belt-shaped area of low signal intensity from the posterior horn of the lateral meniscus to lateral facet of the medial femoral condyle was identified in the coronal plane. A linear area of high signal intensity between the MFL and the lateral meniscus was found in sagittal plane, which might be mistaken as an oblique tear within the posterior horn of the lateral meniscus. It was called pseudo-tears of the posterior horn of the lateral meniscus. The occurrence rate of the TL was 34.7% (25/72). The prevaleribe of pseudo-tears of the anterior horn of the lateral meniscus was 18 cases. The shape of the anterior horn of the lateral meniscus was regular, and the course of the pseudo-tears cleft was oblique. The occurrence rate of the MFL was 73.6% (53/72), which included the anterior MFL 23.6% (17/72), the posterior MFL 70.8% (51/72) and the two ligaments coexisted 16.7% (12/72). The prevalence of pseudo-tears of the posterior horn of the lateral meniscus was 25 cases. All observed pseudo-tears had either in posteroinferiorly oblique direction (19/25) or in vertical direction (6/25).

CONCLUSIONBased on the location and direction of pseudo-tears and observation in the continuous sagittal plane and the coronal plane, pseudo-tears is easily differentiated from the true tear of the lateral meniscus

Adult ; Female ; Humans ; Knee Injuries ; diagnostic imaging ; surgery ; Knee Joint ; diagnostic imaging ; surgery ; Magnetic Resonance Imaging ; Male ; Menisci, Tibial ; diagnostic imaging ; surgery ; Middle Aged ; Radiography ; Tibial Meniscus Injuries

Objective To investigate the effects of different standard cross sections and angles on the measurement accuracy of induced postnatal fetal long bones. Methods Fetal long bones (femori and humeri) in 30 cases with induced abortion were measured utilizing ultrasound from different angles and /or at different directions. The values measured from different sections and angles with vernier calipers were compared prenatally and postnatally. Results There was no apparent difference between the pre-induced abortion and those of the post-induced abortion. The results in the 30 cases showed that: (1) the values measured from anterior 90 degree, the long bone length would best match with the bare long bone length up to 96.7%, the match rate of other angles and/or directions was up to 80%; (2) no apparent statistical difference was between the length of left and right bone and no difference was found using 4 different directions and 3 different angles; (3)there was no difference between the left and right femuri and humeri.Conclusions Though the measured value from anterior 90 degree direction was the most accurate one, the statistical analtical results showed no difference among 12 values measured from 3 different angles and/or 4 different directions.

Alzheimer disease (AD), the most common dementia, is a chronic, progressive and neuro-degenerative disorder. With an increasing prevalence, AD has been the third cause of death after cardio-vascular diseases and cancer in the elderly population. However, the pathogenesis of AD remains unclear, which has led to a fairly slow development of drugs for AD and a dim view of future treatments of AD. It has been a hot spot and a big challenge to develop effective, therapeutic drugs for AD. Recently, this topic was discussed via WeChat by experts from the Neuropsychiatric WeChat Group, which consists of 300 Chinese-origin neuroscientists and neuropsychiatrists in China or overseas. The experts pointed out the problems that might have misled researches on drug discovery, such as the misleading but dominating AD pathology hypotheses and problems with the platforms for drug screening. Therefore, it is important to review the pathology of AD and the treatment strategies from big data and the overall view of the disease, which may shed new light on AD therapy to develop drugs for multiple targets, leading to omni-direc-tional, comprehensive treatments of AD. The development of AD can be further classified into different stages based on the upstream factors of AD pathology. Interestingly, it has been found that the AD brain has mitochondria damage and dysfunction; long-term exposure to low doses of ionizing radiation can also cause AD-like pathological changes. These provide novel views and ideas in terms of the path-ological process and preventive and therapeutic strategies for AD.

Objective:To explore the association between interleukin(IL)-28B single nucleotide polymorphisms and natural outcome of hepatitis C virus.Methods:The IL-28B rs12979860 locus was genotyped in 266 HCV infected volunteer blood donors(107 spontaneous cleared and 159 chronic infection) and 97 healthy controls using Sanger sequencing assay.The difference in rs12979860 genotypes and allele frequencies between the six groups(107 spontaneous cleared and 159 chronic infection,266 HCV infection and 97 healthy controls,159 chronic infection and 97 healthy controls) were analyzed by statistics.Results:159 HCV chronic infection,107 spontaneous cleared and 97 healthy controls,were shown more CC genotype,accounting for 83.6%,95.3%and 86.6%,respectively, while the CT genotype accounted for 16.4%,4.7%and 13.4%respectively.No TT genotype was found.The CC/CT genotype was not significant difference between HCV infection and healthy controls,chronic infection and healthy controls(χ2=0.204,P=0.652;χ2=0.406,P=0.524),but between chronic infections and spontaneous clearance had statistically significant(χ2=8.474,P=0.004),the frequence of C allele in spontaneous cleared was higher than HCV chronic infection(χ2=7.949,P=0.005).Conclusion: The gene polymorphism of IL-28B rs12979860 is not related to HCV susceptibility,but there are differences in chronic infection and spontaneous cleared,showing the C allelic in favor of HCV spontaneous cleaed.

OBJECTIVETo explore the diagnostic value of 3D-indirectmagnetic resonance (MR) arthrography in detecting meniscustears of the knees.

METHODSForm January 2013 to January 2014, routine plain MR of the knees followed by the 3D-indirect MR arthrography was performed in 42 patients with suspected meniscal tears clinically. There were 31 males and 11 females, with an average age of 38.4 years old (ranged, 21 to 67 years old). The duration of the course ranged from 2 h to 15 d. The clinical symptom was knee pain. All the patients got subsequently arthroscopic examination or operation. The sensitivity and specificity of routine plain MR and 3D-indirect MR arthrography were compared based on the results of arthroscopic examination or operation.

RESULTSThe signal intensity in the area of meniscal tears on image of 3D-indirect MR arthrography was obviously higher than that of routine plain MR. The sensitivity of 3D-indirect MR arthrography was 85.79% (87/102), while the routine plain MR was 52.94% (54/102), and the specificity improved from 67.78%(61/90) to 86.67%(78/90). The difference was statistically significant (χ2 = 25.90, P < 0.01; χ2 = 9.13, P < 0.01).

CONCLUSIONIn comparison with the routine plain MR findings, 3D-indirect MR arthrography demonstrates meniscus tears of the knee with the better sensitivity and specificity.

Adult ; Aged ; Arthrography ; methods ; Female ; Humans ; Imaging, Three-Dimensional ; methods ; Knee Injuries ; diagnosis ; Magnetic Resonance Imaging ; methods ; Male ; Middle Aged ; Tibial Meniscus Injuries