Objective To investigate the interrelated liver damage and hepatitis B virus infection among breast cancer patients after chemotherapy, to provide guidance for future breast reduction combined hepatitis B virus infection after chemotherapy liver damage.Methods120 cases of breast cancer patients undergoing chemotherapy combined hepatitis B carries from June 2012 to November 2016 in ningbo women and children's hospital were selected as the research object, depending on whether the infection with the hepatitis B virus into the study group and the control group, the study group HBV-DNA, HBsAg are positive, totaling 62 cases;control group, HBV-DNA, HBsAg were negative, totaling 58 cases;compare two groups of patients after chemotherapy in cases of liver damage.ResultsThe study group after chemotherapy, the incidence of liver dysfunction 48.28% in the control group after chemotherapy, the incidence of liver dysfunction 6.45 percent, the study group after chemotherapy, the incidence of liver dysfunction was significantly lower than the control group, the difference was statistically significant (P<0.05).Study group Ⅰ liver damage degree, degree Ⅱ, degree Ⅲ, degree Ⅳ of apparent higher, the difference was statistically significant (P<0.05), antiviral therapy 20 cases, no antiviral treatment in 42 cases.Antiviral therapy HBV reactivation rate and incidence of liver dysfunction were 5.0%, 20.0%;no antiretroviral therapy in HBV reactivation rate and the incidence of liver dysfunction 31.0%, 52.4% respectively;HBV antiviral therapy re-activation rate and the occurrence of liver dysfunction were significantly lower than not antiviral therapy, and the data were statistically significant (P<0.05).ConclusionThe clinical having close links between liver damage and breast cancer combined hepatitis B virus infection with hepatitis B virus are more likely to occur after infection liver dysfunction chemotherapy, and breast cancer patients after chemotherapy.

Objective To evaluate the value of 18 F?NaF PET/CT and MRI in the diagnosis of skull?base bone invasion ( SBBI) in patients with nasopharyngeal carcinoma( NPC) . Methods Sixty?three NPC patients (45 males, 18 females;age range 23-72 years) were enrolled in this prospective study. Pa?tients underwent 18 F?NaF PET/CT and MRI to confirm whether the skull base was invaded. The reference standard was based on the follow?up imaging in 6 months. The sensitivity, specificity, positive predictive value, negative predictive value and accuracy of the two imaging modalities were calculated. χ2 test was used to analyze their difference. The SBBI foci and their distribution detected by the two imaging modalities were compared. Results Thirty?four NPC patients demonstrated SBBI in follow?up imaging. The diagnostic sen?sitivity, specificity, positive predictive value, negative predictive value, and accuracy of 18 F?NaF PET/CT were 97.1%(33/34), 89.7%(26/29), 91.7%(33/36), 96.3%(26/27) and 93.7%(59/63), respective?ly. For MRI, the parameters were 91.2%(31/34), 86.2%(25/29), 88.6%(31/35), 89.3%(25/28) and 88.9%(56/63), respectively. The diagnostic efficiency of the two imaging modalities had no significant difference (χ2=0.162-1.062, all P>0.05) . 18 F?NaF PET/CT detected 133 lesions and MRI detected 97 le? sions, and the clivus was the most common site of SBBI. Conclusions 18 F?NaF PET/CT and MRI have similar diagnostic efficiency in detecting SBBI. 18 F?NaF PET/CT can detect more lesions than MRI do, and has potential advantage for detecting tiny bone lesions in skull base.

OBJECTIVE: To explore the genetic basis for a child suspected for Say-Barber-Biesecker-Young-Simpson syndrome. METHODS: Genomic DNA was extracted from peripheral blood samples of the child and her parents. Whole exome sequencing was carried out for the proband. Suspected variants were validated by Sanger sequencing. The impact of the variants was predicted by bioinformatic analysis. RESULTS: The child was found to harbor a de novo missense variant c.2623C>T (p.Asp875Tyr) in exon 13 of the KAT6B gene. The variant was previously unreported, and was not recorded in the major allele frequency database and predicted to be pathogenic based on PolyPhen-2, MutationTaster and PROVEAN analysis. As predicted by UCSF chimera and CASTp software, the variant can severely impact the substrate-binding pocket of histone acetyltransferase, resulting in loss of its enzymatic activity. Based on standards and guidelines by the American College of Medical Genetics and Genomics, the variant was classified to be likely pathogenic (PS2+PM2+PP3). CONCLUSION The child's condition may be attributed to the de novo missense c.2623C>T (p.Asp875Tyr) variant of the KAT6B gene.
Blepharophimosis ; Child ; Congenital Hypothyroidism ; Facies ; Female ; Heart Defects, Congenital ; Histone Acetyltransferases/genetics* ; Humans ; Intellectual Disability ; Joint Instability ; Mutation ; Phenotype

OBJECTIVE: To report on a patient with congenital muscular dystrophy (CMD) due to a missense variant of LMNA gene and explore its pathogenicity. METHODS: The 1-year-and-1-month-old boy has presented with motor development delay and elevation of muscle enzymes for more than half a year. Congenital myopathy was suspected. Following muscle biopsy, HE staining, immunostaining and electron microscopy were conducted to clarify the clinical diagnosis. Meanwhile, DNA was extracted from the child and his parents' peripheral venous blood samples. Trio-whole exome sequencing (trio-WES) was carried out to detect pathogenic variant in the child. Candidate variant was verified by Sanger sequencing and bioinformatic analysis. RESULTS: Both light and electron microscopy showed a large area of necrotic muscle tissues with infiltration of inflammatory cells. Immunohistochemistry revealed a large amount of muscle cells to be diffusely positive for Dysferlin. The patient's motor delays, elevations of muscle enzymes and histopathological results suggested a clinical diagnosis of CMD. A de novo missense c.1072G>A (p.E358K) variant was detected in the LMNA gene by trio-WES. The variant was unreported previously (PS2) and was absent from major allele frequency databases (PM2). It was a loss of function variant and was considered as hotspot variant in the LMNA gene (PM1) as the amino acid (E), located in position 358, was highly conserved, and change of this amino acid was found to cause destruction of the filament domain (AA: 30-386), which may result in serious damage to the intermediate filament protein. Furthermore, c.1072G>A (p. E358K) in LMNA gene was also predicted to be pathogenic based on MutationTaster, PROVEAN and PolyPhen-2 (PP3) analysis. According to the guidelines of the American College of Medical Genetics and Genomics (ACMG), the variant was classified to be likely pathogenic (PS2+PM1+PM2+PP3). CONCLUSION The child's condition may be attributed to the de novo missense c.1072 G>A (p.E358K) variant of the LMNA gene. Above discovery has expanded the variant spectrum of the LMNA gene.
Gene Frequency ; Genomics ; Humans ; Infant ; Lamin Type A/genetics* ; Male ; Muscular Dystrophies/genetics* ; Mutation ; Whole Exome Sequencing

Objective:To explore the genetic basis for a child with congenital disorder of glycosylation type 1y (CDG-1y) in conjunct with congenital dysplasia of external auditory canal.Methods:Trio-whole exome sequencing (trio-WES) was carried out for the family. Candidate variant was verified by Sanger sequencing. Pathogenicity of the variant was predicted with a variety of bioinformatic tools.Results:The proband, a 10-years-old boy, presented with mental retardation, microcephaly and dysplasia of external auditory canal. Trio-WES revealed that he has harbored a de novo frameshift variant c. 302dupC (p.Y102Lfs*2) in exon 4 of SSR4 gene, which was unreported previously (PS2). The variant was absent in major allele frequency databases (PM2) and was predicted to be pathogenic by multiple bioinformatic tools (PP3). UCSF chimera software suggested that the c. 302dupC (p.Y102Lfs*2) variant can induce significant alteration to the structure of SSR4 protein, resulting loss of function (PVS1+ PM1). Based on the guidelines from the American College of Medical Genetics and Genomics, the variant was classified as pathogenic (PVS1+ PS2+ PM1+ PM2+ PP3) Conclusion:The de novo frameshift variant c. 302dupC (p.Y102Lfs*2) of the SSR4 gene probably underlay the child′s condition. Above finding has enriched the spectrum of SSR4 mutations and the phenotypic spectrum of CDG-1y.

ObjectiveThis study aims to investigate the effects of different sizes of seedlings and melatonin treatment on physiological and biochemical indicators and bolting-related gene expression in Angelica sinensis， find substances related to early bolting， and elucidate the inhibitory mechanism of melatonin on bolting. MethodsSpectrophotometry was used to detect the related enzyme activities of A. sinensis leaves. The contents of endogenous hormones and polyamines were detected using ultra-high performance liquid chromatography-tandem mass spectrometry. Real-time polymerase chain reaction （Real-time PCR） was used to detect the expression levels of bolting-related genes. Inter-group differential indicator analysis， orthogonal partial least squares discriminant analysis， and principal component analysis were comprehensively applied to identify factors related to early bolting. ResultsEndogenous jasmonic acid and melatonin were identified as the most important factors affecting early bolting. Secondly， the activity of antioxidant enzymes， abscisic acid content， gibberellin content， and the expression levels of CO3， HD3A， and FD genes had important effects on the bolting process. Compared with small seedlings， exogenous melatonin treatment mainly inhibited early bolting by increasing endogenous melatonin content， reducing gibberellin content， and decreasing the expression levels of SOC1 and FD genes. ConclusionExogenous melatonin can inhibit early bolting in A. sinensis by regulating its physiological， biochemical， and gene expression levels.

ObjectiveThis study aims to investigate the effects of different sizes of seedlings and melatonin treatment on physiological and biochemical indicators and bolting-related gene expression in Angelica sinensis， find substances related to early bolting， and elucidate the inhibitory mechanism of melatonin on bolting. MethodsSpectrophotometry was used to detect the related enzyme activities of A. sinensis leaves. The contents of endogenous hormones and polyamines were detected using ultra-high performance liquid chromatography-tandem mass spectrometry. Real-time polymerase chain reaction （Real-time PCR） was used to detect the expression levels of bolting-related genes. Inter-group differential indicator analysis， orthogonal partial least squares discriminant analysis， and principal component analysis were comprehensively applied to identify factors related to early bolting. ResultsEndogenous jasmonic acid and melatonin were identified as the most important factors affecting early bolting. Secondly， the activity of antioxidant enzymes， abscisic acid content， gibberellin content， and the expression levels of CO3， HD3A， and FD genes had important effects on the bolting process. Compared with small seedlings， exogenous melatonin treatment mainly inhibited early bolting by increasing endogenous melatonin content， reducing gibberellin content， and decreasing the expression levels of SOC1 and FD genes. ConclusionExogenous melatonin can inhibit early bolting in A. sinensis by regulating its physiological， biochemical， and gene expression levels.

ObjectiveTo investigate the bacterial diversity in the rhizosphere soil and phyllosphere of Angelica sinensis and examine the effects of foliar applications of a composite bacterial agent，salicylic acid，and coronatine on the bacterial diversity，disease incidence，and plant yield，thus providing a theoretical basis and guidance for the artificial construction of functional minimal communities and the regulation of rhizosphere through foliar treatments. MethodsUnder continuous cropping conditions in the field，foliar applications of a composite bacterial agent，salicylic acid，coronatine，and sterile water were conducted. The 100-plant weight was measured via the conventional method，and the incidence of diseases was recorded. The microbial community composition，diversity，and inter-group differences in the phyllosphere and rhizosphere soil of A. sinensis were analyzed by 16S high-throughput sequencing，and the potential microbial functions were predicted. ResultsCompared with the blank control，foliar applications of salicylic acid and coronatine both significantly reduced the yield and root rot incidence of A. sinensis. The foliar application of salicylic acid decreased the content of ferulic acid and increased that of ligustilide. The foliar application of coronatine increased the content of both ferulic acid and ligustilide. The microbial communities and functions in the phyllosphere and rhizosphere soil were significantly different. The phyllosphere had lower microbial diversity，with all bacteria being Gram-negative，mainly Cyanobacteria and Proteobacteria with limited functions. The rhizosphere soil had higher microbial diversity，harboring dominant phyla including Proteobacteria，Actinobacteria，Acidobacteria，and Bacteroidetes with rich functions. All foliar treatments regulated the microbial community in the rhizosphere soil，with a more significant effect on the microbial community in the rhizosphere soil than that in the phyllosphere. The coronatine treatment significantly reduced the abundance of Proteobacteria and nitrate-reducing and aromatic compound-degrading microorganisms in the rhizosphere soil，thus affecting nutrient cycling and autotoxic substance degradation and leading to a yield reduction. Compared with the salicylic acid treatment，the coronatine treatment significantly increased the abundance of Bacillus and Streptomyces in the rhizosphere soil，demonstrating enhanced disease control efficacy. ConclusionFoliar application of coronatine and salicylic acid can significantly regulate the composition and function of bacterial communities in the rhizosphere soil，thereby reducing the disease incidence and the plant yield.