Objective:To explore the predictive value of serum thyroglobulin autoantibody (TgAb) for recurrence / metastasisin of thyroglobulin (TG)-negative and TgAb-positive patients with differentiated thyroid carcinoma(DTC) after thyroid ablation.Methods:The clinical data of 57 patients with DTC,undergoing complete resection of thyroid tissue,TG negative and TgAb positive,who were reviewed in Liaocheng People's Hospital during April 2013 to April 2015,were selected and divided into recurrence/metastasis group (n=20) and no recurrence/metastasis group (n=37).The TG and TgAb levels in the two groups were detected and compared by the electrochemical luminescence method,the sensitivity,specificity,positive predictive value and negative predictive value of TgAb in the diagnosis of DTC recurrence / metastasis were analyzed;the independent risk factors of DTC recurrence / metastasis were analyzed by Logistic regression.Results:The TgAb levels(72～3850 IU/mL) in the recurrence/metastasis group was higher than that(18～3638 IU/mL) in the no recurrence/metastasis group,the difference was statistically significant (P＜0.05).The sensitivity,specificity,positive predictive value,negative preictive value of TgAb in the diagnosis of recurrence/metastasis of DTC were 85.71％,83.33％,75.00％,90.91％,respectively.Logistic Regression analysis showed that the 100≤ TgAb ＜204 IU/mL,204≤ TgAb≤ 1000IU/mL,and ＞ 1000IU/rnL levels of TgAb were the independent risk factors of rucurrence/metastasis ofDTC (OR=1.267,2.853,6.791,P＜0.05).Conclusion:TgAb can be used as evaluation of an important index of the recurrence/metastasis of patients with DTC when serum thyroglobulin (TG) was negative and TgAb was positive after thyroid ablation.The higher the TgAb levels,the more probability of the recurrence/metastasis.

OBJECTIVE: To explore the genetic basis for a child featuring complex cortical dysplasia and other brain malformations (CDCBM3). METHODS: Genomic DNA was extracted from peripheral blood samples from the patient and his parents. Whole exome sequencing (WES) was carried out for the family trio. Suspected variant was verified by Sanger sequencing. RESULTS: The proband, a 1-year-and-2-month old Chinese boy, had presented with motor developmental delay, lissencephaly, severe cognitive impairments, absent speech and congenital laryngomalacia. WES revealed that he has harbored a heterozygous missense variant of the KIF2A gene, namely NM_001098511.2: c.952G>A, p.Gly318Arg (GRCh37/hg19). The highly conserved residue is located around the ATP nucleotide-binding pocket in the kinesin motor domain (PM1). The variant was not found in the Genome Aggregation Database and the 1000 Genomes Project (PM2), and was predicted to be deleterious on the gene product by multiple in silico prediction tools (PP3). This variant was unreported previously and was de novo in origin (PS2). Based on the ACMG guidelines, it was categorized as likely pathogenic (PS2+PM1+PM2+PP3). Furthermore, the congenital laryngomalacia found in our patient was absent in previously reported CDCBM3 cases. CONCLUSION The novel variant of the KIF2A gene probably underlay the disorders in the proband. Above finding has expanded the phenotypic and mutational spectrum of CDCBM3.
Asians/genetics* ; Brain ; China ; Humans ; Infant ; Kinesins/genetics* ; Male ; Malformations of Cortical Development/genetics* ; Whole Exome Sequencing

OBJECTIVE: To explore the genotype-phenotype correlation of a case with GM1-gangliosidosis caused by compound heterogenic variants in GLB1. METHODS: Genomic DNA was extracted from peripheral blood samples from the patient and her parents. Trio-based whole-exome sequencing (WES) was performed for the family and suspected mutation was verified by Sanger sequencing. RESULTS: The proband, a 2-year-3-month old Chinese girl, presented with psychomotor deterioration, absent speech, intellectual disabilities and behavior problem. Trio-based WES has identified compound heterozygosity for 2 variants in the GLB1 gene: NM_000404.2:c.1343A>T, p.Asp448Val and c.1064A>C, p.Gln355Pro (GRCh37/hg19),which was inherited from the mother and father, respectively. Homozygous or compound heterozygous pathogenic variants in GLB1, encoding β-galactosidase, are responsible for GM1-gangliosidosis,an autosomal recessive lysosomal storage disorder characterized by variable degrees of neurodegeneration and skeletal abnormalities. The p.Asp448Val variant has been classified as pathogenic for GM1 gangliosidosis in medical literatures for the reason that functional studies demonstrated that expression of the p.Asp448Val variant in COS-1 cells resulted in no detectable β-galactosidase activity compared to wild type GLB1. The p.Gln355Pro variant has not been reported in literatures or database. The variant is highly conserved residue (PM1), and was not found in either the Genome Aggregation Database or the 1000 Genomes Project (PM2) and was predicted to have a deleterious effect on the gene product by multiple in silico prediction tools (PP3). Next, the β-galactosidase activity of the patient's peripheral blood leukocytes was determined by fluorescent method. The result was 0.0 nmol/mg. It showed that the p.Gln355Pro variant also resulted in loss of β-galactosidase activity, thus the variant was classified into clinical pathogenic variant. CONCLUSION Our study expands the mutational spectrum of the GLB1 gene and provides genetic counseling for the family.
Asians/genetics* ; China ; Female ; G(M1) Ganglioside ; Gangliosidosis, GM1/genetics* ; Humans ; Mutation ; beta-Galactosidase/genetics*

OBJECTIVE: To explore the genotype-phenotype correlation in a child with Kabuki syndrome type 1 (KS1) caused by a mosaic frameshift variant of KMT2D gene. METHODS: Trio-based whole exome sequencing (WES) was carried for the patient and her parents. Candidate variant was verified by Sanger sequencing. RESULTS: The proband, a 3-year-and-2-month-old Chinese girl, presented with distinctive facial features, cognitive impairment, mild developmental delay, dermatoglyphic abnormalities, minor skeletal anomalies, ventricular septal defect, and autistic behavior. Trio-based WES revealed that the proband has carried a de novo mosaic frameshit variant of the KMT2D gene, namely NM_003482.3:c.13058delG (p.Pro4353Argfs*31) (GRCh37/hg19), for which the mosaicism rate was close to 21%. The variant was unreported previously and was confirmed by Sanger sequencing. Chromosomal microarray analysis (CMA) has revealed no pathogenic or likely pathogenic copy number variations. Compared with previously reported cases, our patient has presented obvious behavior anomalies including autism, anxiety and sleep problems, which were rarely reported. CONCLUSION This study has expanded the spectrum of KMT2D gene variants, enriched the clinical phenotypes of KS1, and facilitated genetic counseling for the family.
Abnormalities, Multiple ; China ; DNA Copy Number Variations ; DNA-Binding Proteins/genetics* ; Face/abnormalities* ; Female ; Hematologic Diseases ; Humans ; Infant ; Neoplasm Proteins/genetics* ; Phenotype ; Vestibular Diseases

More and more studies have found that red blood cell distribution width (RDW) can be used for acute pancreatitis (AP) classification, dynamic monitoring and evaluation of disease severity, mortality, prognosis and complication. Some inflammatory markers, such as procalcitonin (PCT), C-reactive protein (CRP), neutrophil-to-lymphocyte ratio (NLR) and pancreatitis scoring system are also associated with severity of AP, and can further improve the evaluation of AP severity when combined with RDW. This article reviewed the RDW and classification of AP, the dynamic changes of RDW and AP, RDW combined with inflammatory indices for prediction of severity of AP, and RDW combined with pancreatitis scoring system for prediction of severity of AP, so as to improve the understanding of predictive value of RDW in assessing the severity of AP.