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Noonan syndrome(NS)is an inherited disease involving multiple systems.The main clinical manifestations include distinctive facial features, short stature, heart defects, developmental delay and chest deformity.Short stature, reported in up to 70% of NS patients, is one of the main reasons NS patients seek medical treatment.The pathogenesis is associated with the up-regulation of RAS-mitogen activated protein kinase(RAS-MAPK)signal pathway.Further study is needed for some further specific mechanisms.Recombinant human growth hormone(rhGH)therapy has been approved for NS patients with short stature and has achieved a good therapeutic effect.However, the knowledge of drug dosage, influencing factors, long-term efficacy and risk of rhGH treatment is still insufficient.This paper reviews the pathogenesis and treatment of short stature in NS, providing help for the treatment and management of the disease.
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We report a fetus with recurrent intraparenchymal hemorrhage and cystic leukomalacia during pregnancy who was postnatally detected with a de novo mutation in the COL4A1 gene by genetic testing of umbilical cord blood. Multiple fresh hemorrhagic foci were detected in the fetal brain parenchyma and cerebellar hemisphere by ultrasound at 25 gestational weeks. Regular re-examination of the nervous system's ultrasound and magnetic resonance imaging (MRI) indicated recurrent multiple intraparenchymal hemorrhages followed by cystic leukomalacia. However, karyotyping and chromosomal microarray analysis of amniotic fluid showed no abnormality. The newborn was born by cesarean section at 37 +3 gestational weeks with an Apgar score of 10 at 1 and 5 min. Repeated apnea occurred after birth. MRI detected new intraparenchymal hemorrhage and cystic leukomalacia on the six-day of life. The infant's limb muscle tone remained low on the 90-day follow-up. The patient was lost to follow up. Whole-exome sequencing of the cord blood identified a de novo heterozygous mutation- c.4738G>A in the COL4A1 gene (NM_001845.4; p.G1580S) neither parent carried. It suggests that the genetic test of the COL4A1 mutation should be considered for fetuses with intracranial hemorrhage in the prenatal diagnosis, especially those with recurrent fetal intraparenchymal hemorrhage followed by cystic leukomalacia. Genetic tests could help analyze the fetal prognosis, and guide the delivery mode.
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Type 1 diabetes mellitus(T1DM)is a disease that seriously harms children′s health.It often occurs in childhood and is a major public health problem all over the world.T1DM can cause damage to multiple systems including nervous, circulatory, urinary systems, etc.The etiology, prevention and treatment of T1DM have become a research hotspot.With the deepening of researches, the influence of T1DM on cognitive function in children has attracted increasing attention.T1DM can damage the brain structure, neurological development and cognitive function of children, influencing intelligence, attention, memory, executive function, etc.This paper reviews the recent researches between T1DM and cognitive function of children, so as to improve the awareness of pediatricians.
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OBJECTIVE@#To explore the genetic basis for a sib pair featuring 17beta-hydroxysteroid dehydrogenase type 3 deficiency.@*METHODS@#Genomic DNA was extracted from the proband, her sister, and their parents, and was subjected to sequencing analysis with a gene panel for sexual development. Suspected variant was verified by Sanger sequencing and bioinformatic analysis.@*RESULTS@#Both the proband and her sister were found to harbor novel compound heterozygous missense variants of the HSD17B3 gene, namely c.839T>C (p.Leu280Pro) and c.239G>T (p.Arg80Leu), which were derived respectively from their mother and father. The variants were unreported previously and predicted to be deleterious by PolyPhen2, MutationTaster and other online software. Based on the American College of Medical Genetics and Genomics standards and guidelines, both c.839T>C(p.Leu280Pro) and c.239G>T (p.Arg80Leu) were predicted to be likely pathogenic (PM2+PP1+PP2+PP3+PP4, PM2+PM5+PP1+PP2+PP3+PP4).@*CONCLUSION@#The compound heterogeneous variants of the HSD17B3 gene probably underlay the disease in this sib pair. 17beta-hydroxysteroid dehydrogenase type 3 deficiency may lack specific clinical features and laboratory index, genetic testing can facilitate a definitive diagnosis.
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Female , Humans , 17-Hydroxysteroid Dehydrogenases/genetics , Genetic Testing , Genomics , Mutation , Mutation, MissenseABSTRACT
The clinical data of a case of Weave syndrome admitted in the Department of Endocrinology, Children′s Hospital of Nanjing Medical University in October 2018 were retrospectively analyzed.The patient was a 9 years and 2 months old girl, who was hospitalized because of " growing too fast for 9 years" . After birth, the child is found to grow fast and have mental retardation, slurred speech, a blurred vision, a long face, a protruding forehead, ocular hypertelorism, epicanthus, nasal bridge pit, finger pads on both hands and feet, uncoordinated gaits, and intoeingpigeon toes.A novel heterozygous c. 1720A>G (p.K574E) mutation was detected in the exon 15 of the EZH2 gene of the patient.This mutation has not been reported at home and overseas.Sanger sequencing revealed that the patient′s parents did not carry the mutation.The disease is an autosomal dominant genetic disorder, and the parents and sibling of the patient have no corresponding symptoms, so it is inferred that the mutation is spontaneous.Based on the peculiarity of the face, clinical manifestations and the results of molecular genetics, the child was diagnosed as Weaver syndrome.
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Type 1 diabetes mellitus(T1DM)is a chronic, immune-mediated disease characterised by the destruction of insulin-producing cells.The specific pathogenesis of T1DM has not been clarified.It is mainly believed that the occurrence of T1DM is caused by the joint action of genetic and environmental factors.The occurrence, development, treatment and prevention of T1DM are urgent problems to be solved.A number of studies have found that vitamin D is involved in the pathological process of many autoimmune diseases and is related to cell proliferation, differentiation, apoptosis and other mechanisms.Vitamin D may play a key role in the pathological mechanism of T1DM.Here we review the relationship between the incidence, prevention and treatment of T1DM and vitamin D.
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Background@#No currently available biomarkers or treatment regimens fully meet therapeutic needs of type 1 diabetes mellitus (T1DM). Circular RNA (circRNA) is a recently identified class of stable noncoding RNA that have been documented as potential biomarkers for various diseases. Our objective was to identify and analyze plasma circRNAs altered in T1DM. @*Methods@#We used microarray to screen differentially expressed plasma circRNAs in patients with new onset T1DM (n=3) and age-/gender-matched healthy controls (n=3). Then, we selected six candidates with highest fold-change and validated them by quantitative real-time polymerase chain reaction in independent human cohort samples (n=12). Bioinformatic tools were adopted to predict putative microRNAs (miRNAs) sponged by these validated circRNAs and their downstream messenger RNAs (mRNAs). Gene Ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG) pathway analyses were performed to gain further insights into T1DM pathogenesis. @*Results@#We identified 68 differentially expressed circRNAs, with 61 and seven being up- and downregulated respectively. Four of the six selected candidates were successfully validated. Curations of their predicted interacting miRNAs revealed critical roles in inflammation and pathogenesis of autoimmune disorders. Functional relations were visualized by a circRNA-miRNA-mRNA network. GO and KEGG analyses identified multiple inflammation-related processes that could be potentially associated with T1DM pathogenesis, including cytokine-cytokine receptor interaction, inflammatory mediator regulation of transient receptor potential channels and leukocyte activation involved in immune response. @*Conclusion@#Our study report, for the first time, a profile of differentially expressed plasma circRNAs in new onset T1DM. Further in silico annotations and bioinformatics analyses supported future application of circRNAs as novel biomarkers of T1DM.
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BackgroundNo currently available biomarkers or treatment regimens fully meet therapeutic needs of type 1 diabetes mellitus (T1DM). Circular RNA (circRNA) is a recently identified class of stable noncoding RNA that have been documented as potential biomarkers for various diseases. Our objective was to identify and analyze plasma circRNAs altered in T1DM.MethodsWe used microarray to screen differentially expressed plasma circRNAs in patients with new onset T1DM (n=3) and age-/gender-matched healthy controls (n=3). Then, we selected six candidates with highest fold-change and validated them by quantitative real-time polymerase chain reaction in independent human cohort samples (n=12). Bioinformatic tools were adopted to predict putative microRNAs (miRNAs) sponged by these validated circRNAs and their downstream messenger RNAs (mRNAs). Gene Ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG) pathway analyses were performed to gain further insights into T1DM pathogenesis.ResultsWe identified 68 differentially expressed circRNAs, with 61 and seven being up- and downregulated respectively. Four of the six selected candidates were successfully validated. Curations of their predicted interacting miRNAs revealed critical roles in inflammation and pathogenesis of autoimmune disorders. Functional relations were visualized by a circRNA-miRNA-mRNA network. GO and KEGG analyses identified multiple inflammation-related processes that could be potentially associated with T1DM pathogenesis, including cytokine-cytokine receptor interaction, inflammatory mediator regulation of transient receptor potential channels and leukocyte activation involved in immune response.ConclusionOur study report, for the first time, a profile of differentially expressed plasma circRNAs in new onset T1DM. Further in silico annotations and bioinformatics analyses supported future application of circRNAs as novel biomarkers of T1DM.
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Non-alcoholic fatty liver disease(NAFLD)refers to a wide spectrum of liver diseases ranging from simple fatty liver to non-alcoholic steatohepatitis, which in turn can evolve into cirrhosis and end stage of liver disease.With the prevalence of childhood obesity worldwide, obesity and its related complications have become important factors endangering children′s health.As a manifestation of metabolic syndrome in the liver, NAFLD has become one of the most common liver diseases in children.Its occurrence and development may be the result of genetic susceptibility, genetic polymorphism, obesity, insulin resistance, cytokines, intestinal flora imbalance and other factors.Current treatments for NAFLD include lifestyle changes, medications, and surgery.This article reviews the epidemic trend, possible pathogenesis and treatment progress of NAFLD in children.
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Objective:To observe the effects of lifestyle intervention on diet, physical activities and health outcomes in obese children and adolescents during one year of follow up.Methods:A total of 153 obese children and adolescents with body mass index more than 95th percentage of the same age and sex were recruited consecutively from June 2015 to June 2017 in our hospital whose parents had signed the informed consent forms. The children were followed-up once every three months and their diet and physical activities, anthropometric measurement and metabolic indicators were assessed on research scheme, which lasted for one year.Results:A total of 52 obese children completed four visits plan in 12 months (34.0%, one year group), 101 children (66.0%) dropped from 3 to 9 months (66.0%, less than one year group). The intake of total energy [(8 524.5±2 068.6)kJ vs (6 464.0±1 586.9)kJ, P<0.05], dietary protein [(75.5±20.7)g vs (64.2±16.8)g, P<0.05], fat [(79.0±18.8)g vs (60.3±14.2)g, P<0.05], carbohydrates [(257.1±83.6)g vs (188.9±63.8)g, P<0.05] decreased after one year intervention in one year group. Moreover, the numbers of physical activity of medium to high intensity increased in obese children (0 vs 32.7%, P<0.05). BMI-SDS [(3.15±0.85) vs (2.46±0.81), P<0.05], WHtR [(0.60±0.04) vs (0.56±0.06), P<0.05] and FM% [(39.9±5.4) vs (33.0±7.4), P<0.05] were reduced, while SMM% [(32.1±3.2) vs (36.0±4.3), P<0.05] increased significantly in one year group. The detection rate of insulin resistance, dyslipidemia and nonalcoholic fatty liver disease (NAFLD) were reduced in one year group at the end of follow up ( P<0.05). The decrease of body fat and the increase of skeletal muscle were more obvious in one-year follow up group( P<0.05). Conclusion:Children and adolescent have less energy intake, more physical activities, good clinical outcomes and less complications of obesity through lifestyle intervention and follow up for one year, so it is worthy of being promoted.
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Objective:To study the clinical characteristics of growth development and metabolic disorders in obese children and adolescents with insulin resistance (IR).Methods:Normal weight or obese children and adolescents who hospitalized at the Department of Children′s Health Care of Children′s Hospital Affiliated to Nanjing Medical University from September 2015 to April 2018 were recruited.Children′s height, body weight and waist circumference were measured, and waist-to-height ratio (WHtR) and body mass index (BMI) were calculated.Puberty process was determined by Tanner stage.Blood glucose, blood lipid and insulin were measured in fasting state, and homeostasis model assessment of insulin resistance (HOMA-IR) was calculated based on fasting blood glucose and insulin levels.IR was considered when HOMA-IR was over 2.69.Non-alcoholic fatty liver (NAFLD) was diagnosed by abdominal ultrasound.Results:(1) A total of 691 subjects were included, including 183 cases with the age of (9.73±2.38) years in the normal weight group/normal group, and 508 cases with the age of (10.24±2.05) years old in the obese group.The rate of IR was higher in obese group than that in normal group (55.71% vs. 10.38%), and the difference was statistically significant ( P<0.001). (2)HOMA-IR was positively correlated with age ( r=0.256, P<0.001), BMI ( r=0.426, P<0.001), waist circumference ( r=0.454, P<0.001), and WHtR ( r=0.321, P<0.001). After the adjustment for age, sex, and puberty stage, HOMA-IR was also positively correlated with BMI ( r=0.418, P<0.001), waist circumference ( r=0.419, P<0.001) and WHtR ( r=0.375, P<0.001). (3) During puberty, HOMA-IR in both of obese group and normal group was increased, and HOMA-IR in obese group was more particularly serious compared to normal group[TannerⅠ: 2.60(1.49, 3.94) vs.1.28(0.80, 1.90); Tanner Ⅱ: 3.07(1.75, 5.17) vs.1.80(1.16, 2.96); Tanner Ⅲ: 4.33(2.80, 6.57) vs.2.47(1.41, 3.68); Tanner Ⅳ-Ⅴ: 3.49(1.04, 5.78) vs.1.91(0.54, 2.60)], and the differences were all statistically significant(all P<0.05). (4)Compared with the obese objects without IR, obese children and adolescents with IR had higher systolic blood pressure[112(104, 124) mmHg vs.109(98, 121) mmHg, 1 mmHg=0.133 kPa], triglyceride level [1.27(0.95, 1.81) mmol/L vs.1.09(0.79, 1.61) mmol/L], fas-ting blood glucose level [4.80(4.46, 5.01) mmol/L vs.4.48(4.16, 4.76) mmol/L] and fasting insulin level [21.27(16.21, 28.56) mmol/L vs.7.62(4.43, 10.83) mmol/L], and the differences were all statistically significant(all P<0.05). IR was a risk factor for NAFLD in obese children( OR=1.536, 95% CI: 1.049-2.247, P<0.05). Conclusions:Serious and abdominal obesity in children and adolescents is a major risk factor for the development of IR.HOMA-IR of obese children and adolescents is particularly serious during puberty.The obese children with IR are more likely to have metabolic disorders in blood glucose, serum lipid and blood pressure, and have the risk of NAFLD development.
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BackgroundNo currently available biomarkers or treatment regimens fully meet therapeutic needs of type 1 diabetes mellitus (T1DM). Circular RNA (circRNA) is a recently identified class of stable noncoding RNA that have been documented as potential biomarkers for various diseases. Our objective was to identify and analyze plasma circRNAs altered in T1DM.MethodsWe used microarray to screen differentially expressed plasma circRNAs in patients with new onset T1DM (n=3) and age-/gender-matched healthy controls (n=3). Then, we selected six candidates with highest fold-change and validated them by quantitative real-time polymerase chain reaction in independent human cohort samples (n=12). Bioinformatic tools were adopted to predict putative microRNAs (miRNAs) sponged by these validated circRNAs and their downstream messenger RNAs (mRNAs). Gene Ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG) pathway analyses were performed to gain further insights into T1DM pathogenesis.ResultsWe identified 68 differentially expressed circRNAs, with 61 and seven being up- and downregulated respectively. Four of the six selected candidates were successfully validated. Curations of their predicted interacting miRNAs revealed critical roles in inflammation and pathogenesis of autoimmune disorders. Functional relations were visualized by a circRNA-miRNA-mRNA network. GO and KEGG analyses identified multiple inflammation-related processes that could be potentially associated with T1DM pathogenesis, including cytokine-cytokine receptor interaction, inflammatory mediator regulation of transient receptor potential channels and leukocyte activation involved in immune response.ConclusionOur study report, for the first time, a profile of differentially expressed plasma circRNAs in new onset T1DM. Further in silico annotations and bioinformatics analyses supported future application of circRNAs as novel biomarkers of T1DM.
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Objective@#To understand the drinking water quality of rural schools in Harbin in the past five years.@*Methods@#According to the requirements of Harbin municipal drinking water sanitation monitoring program, rural schools were monitored for drinking water in dry and wet periods, water quality was tested according to the standard test method for drinking water (GB/T 5750—2006), and water quality was evaluated according to the standard for drinking water (GB 5749—2006).@*Results@#A total of 320 water samples were tested from 2014 to 2018, and the qualified rate was 75.63% in 5 years, which showed an increasing trend( χ 2=10.81, P <0.05). The qualified rate of drinking water in treated rural schools (79.41%) was higher than that in untreated rural schools(68.97%)( χ 2=4.38, P <0.05).@*Conclusion@#The drinking water sanitation of rural schools in Harbin is not optimistic. Supervision and monitoring of drinking water in rural schools, construction and management of treatment and disinfection facilities should be strengthened to ensure the safety of drinking water for teachers and students.
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Objective@#To investigate the regulatory mechanism of long non-coding RNA (lncRNA) 53106 in the apoptosis model of MIN6 cells stimulated by cytokines.@*Methods@#The stimulation model of cytokines 10 ng/ml interleukin-1β, 50 ng/ml tumor necrosis factor-α, 50 ng/ml interferon-γ in MIN6 islet cell lines were established. The apoptosis rate was measured by flow cytometry and the expression levels of lncRNA53106 and (C-X-C motif) ligand (CXCL)10 were detected by realtime quantitative PCR (qPCR). LncRNA53106 smart silencer and CXCL10 siRNA were constructed, and lncRNA53106 and CXCL10 were knocked down respectively. Then inflammatory cytokines were combined to stimulate, and their roles in the apoptosis of min6 cells were detected by flow cytometry, qPCR, and Western blotting.@*Results@#In the apoptosis model of MIN6 cells stimulated by cytokines, the apoptosis rate of cytokines group was significantly increased and reached statistical significance. The apoptosis rate of the knocked down lncRNA53106 group was significantly lower than that of the control group (P<0.05). The expression of CXCL10 was also decreased in the knockdown group by qPCR and Western blotting, the expressions of the apoptosis-related factors Bax and Caspase3 mRNA were decreased. The apoptosis rate in the knocked down CXCL10 group was significantly lower than that in the control group (P<0.05), and the expression of lncRNA53106 was slightly increased, but the difference was not significant (P=0.61).@*Conclusion@#LncRNA53106 may promote the expression of apoptosis factor by upregulation of CXCL10, and promote the apoptosis of β cells of the pancreas, which may lead to the occurrence of type 1 diabetes.
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Objective To investigate the regulatory mechanism of long non-coding RNA ( lncRNA) 53106 in the apoptosis model of MIN6 cells stimulated by cytokines. Methods The stimulation model of cytokines 10 ng/ml interleukin-1β, 50 ng/ml tumor necrosis factor-α, 50 ng/ml interferon-γin MIN6 islet cell lines were established. The apoptosis rate was measured by flow cytometry and the expression levels of lncRNA53106 and ( C-X-C motif) ligand (CXCL)10 were detected by realtime quantitative PCR (qPCR). LncRNA53106 smart silencer and CXCL10 siRNA were constructed, and lncRNA53106 and CXCL10 were knocked down respectively. Then inflammatory cytokines were combined to stimulate, and their roles in the apoptosis of min6 cells were detected by flow cytometry, qPCR, and Western blotting. Results In the apoptosis model of MIN6 cells stimulated by cytokines, the apoptosis rate of cytokines group was significantly increased and reached statistical significance. The apoptosis rate of the knocked down lncRNA53106 group was significantly lower than that of the control group ( P<0.05) . The expression of CXCL10 was also decreased in the knockdown group by qPCR and Western blotting, the expressions of the apoptosis-related factors Bax and Caspase3 mRNA were decreased. The apoptosis rate in the knocked down CXCL10 group was significantly lower than that in the control group (P<0.05), and the expression of lncRNA53106 was slightly increased, but the difference was not significant ( P=0.61) . Conclusion LncRNA53106 may promote the expression of apoptosis factor by upregulation of CXCL10, and promote the apoptosis ofβcells of the pancreas, which may lead to the occurrence of type 1 diabetes.
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Objective@#To investigate the status and prognostic significance of TERT and IDH1/2 genes mutations in diffusely infiltrating gliomas.@*Methods@#Hot spot mutations of TERT and IDH1/2 genes were detected by DNA sequencing in 236 cases of gliomas at West China Hospital from 2012 to 2016, including pilocytic astrocytoma (WHO grade Ⅰ, 16 cases), diffuse astrocytoma and oligodendroglioma (WHO grade Ⅱ, 89 cases), anaplastic astrocytoma and oligodendroglioma (WHO grade Ⅲ, 72 cases) and glioblastoma (WHO grade Ⅳ, 59 cases). The prognostic significance of TERT and IDH1/2 hot spot mutations was evaluated.@*Results@#No IDH or TERT mutations were detected in pilocytic gliomas. TERT promoter mutation frequency was higher in patients aged ≥40 years(60.8%, 93/153) than in patients aged <40 years (32.8%, 22/67; P<0.01). TERT promoter mutation rate was also significantly higher in oligodendroglioma (87.5% , 56/64) than that in astrocytoma(37.8%, 59/156; P<0.01). Young age (<40 years), oligodendroglioma and IDH1 mutation were favorable prognostic factors for diffusely infiltrating astrocytic and oligodendroglial tumors. TERT mutation alone was not of prognostic significance. Diffusely infiltrating astrocytic and oligodendroglial tumors were divided into four molecular subtypes according to TERT and IDH1 mutation status: IDH(+ )/TERT(+ ), IDH(+ )/TERT(-), IDH(-)/TERT(-) and IDH(-)/TERT(+ ). There was significant prognostic difference among the 4 subtypes.@*Conclusions@#Combined IDH and TERT gene mutation analysis may be useful for prognostic subgrouping. Notably, IDH1 wild-type cases can be further subdivided into TERT(+ ) or (-) subgroups with significant prognostic difference.
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Objective To study the characteristics of resting energy expenditure (REE) and evaluate the association between REE and obesity-related comorbidities in obese children and adolescents.Methods Recruited obese children and adolescents were recruited from the Department of Child Health Care in Nanjing Children's Hospital from July,2015 to September,2016.Height,weight(WT),waist circumference,hip circumference,blood pressure were measured.Puberty status was determined by Tanner staging.REE was measured by indirect calorimetry.Body composition,including fat mass (FM),fat free mass (FFM) were assessed in terms of bioelectrical impedance.Serum biochemical parameters were assessed,including fasting blood glucose (FBG),fasting blood insulin (FBI),total cholesterol (TC),triglyceride (TG),high-density lipoprotein cholesterol (HDL-C) and uric acid (UA).B-model ultrasonography of the liver was conducted.Results One hundred and ninety-six obese children (143 boys and 53 girls) aged 7-15 years were recruited.The measured REE was (1 497.2 ± 312.1) kcal/d.Pearson correlation analysis indicated that REE was positively related to age (r =0.386,P ＜ 0.001),WT(r =0.676,P ＜ 0.001),FM (r =0.629,P ＜0.001),FFM(r=0.635,P＜0.001) and FM％ (r =0.335,P＜0.001),but negatively related to FFM％ (r=-0.335,P ＜0.001).By studying stepwise linear regression,it was found that the factors which influenced REE were age and weight[REE(kcal/d) =899.469-32.098 × age (year) + 16.143 × weight (kg),P ＜ 0.001].REE was expressed per kg of body weight (REE/WT),and there was a significant difference in REE/WT during pubertal development (P ＜0.001) in both males and females and the pubertal males had lower REE/WT than females.Moreover,REE/WT was lower in insulin resistant group compared to the normal insulin group.Meanwhile,REE/WT in hypertension group was lower than that in the normal blood pressure group.The above differences remained after adjusted for age adjustment(P ＜0.O1).Conclusion The decrease in REE/WT level in obese children and adolescents is correlated with puberty development and obesity complicated with insulin resistance and hypertension.
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Objective To compare the diagnostic performances of two elastography techniques, virtual touch tissue imaging quantification (VTIQ) and virtual touch tissue quantification (VTQ), in differentiating between benign and malignant thyroid nodules. Methods A total of 182 patients with 186 nodules evaluated by VTQ and VTIQ were enrolled in this study. Shear wave velocities (SWV) of benign and malignant nodules were measured and compared between different groups by t test . The receiver operating characteristic curve (ROC) was used to assess the value of VTIQ and VTQ in differentiating benign and malignant nodules. And the sensitivity, specificity, accuracy, positive predictive value (PPV) and negative predictive value (NPV) of VTIQ and VTQ were calculated. According to areas under the curve (AUC), the diagnostic values of these two elastography techniques for thyroid nodules′ qualitative diagnosis were compared by Z test. Results In pathology, 104 thyroid nodules were benign and 82 were malignant. AUC of VTIQ SWV mean, VTIQ SWV median, VTQ SWV mean, VTQ SWV median were 0.848, 0.790, 0.759, 0.717, respectively. In the VTIQ and VTQ techniques, the SWV mean had higher diagnostic efficacy than the SWV median (VTIQ techniques: Z=2.104, P=0.0354; VTQ techniques: Z=2.190, P=0.0285). There were statistical differences in the diagnosis performance between VTIQ SWV mean and VTQ SWV mean (Z =2.115, P=0.0344). The VTIQ SWV mean value in the nodule had the best diagnostic value in comparison with other SWV values. The cut-off value of VTIQ SWV mean was 2.91 m/s. According to ROC curve analysis, the sensitivity, specificity, accuracy, PPV and NPV for VTIQ SWV mean were 72.12%, 87.80%, 79.03%, 88.24%, 71.29%, respectively. Conclusions The results demonstrated that VTQ and VTIQ have good diagnostic performance on distinguishing malignant from benign thyroid nodules. VTIQ SWV mean shows a better diagnostic performance than VTQ SWV mean.
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ObjectiveThe aim of this study is to analyze the etiology and status of bone age of children with short stat-ure.MethodsAnthropological and physical examination data were retrospectively collected and studied in 2132 children with short stature in the department of endocrinology between 2009 and 2014. Growth hormone (GH) levels were determined by ar-ginine-clonidine test. Bone age was determined by CHN scoring.ResultsAmong the 2132 patients, 1333 were males and 799 were females. Mean age is 9.03 ± 3.04 years old, mean bone age is 6.81 ± 3.05 years. Of them, 324 cases (15.2%) were diagnosed complete GH deifciency, 780 cases (36.59%) were partial GH deifciency, 27cases (1.27%) were multiple pituitary hormone de-ifciency, 13 cases (1.64%) were hypothyroidism, 893 cases (41.89%) were idiopathic short stature, 19 cases (0.89%) were small for gestational age (SGA), 40 cases (1.88%) were chromosomal disorders, etc. Signiifcant difference in age and bone age was found using t test (P<0.05). Signiifcant differences in Δage were found between etiological categories using ANOVA (P=0.000). Δage was signiifcantly and negatively associated with peak GH using Pearson's correlation.ConclusionsGH deifciency is the most common cause of short stature. Bone age of children with short stature is commonly delayed. Δage was signiifcantly and negatively associated with peak GH. Multiple pituitary hormone deifciency has a signiifcant effect on bone age. The etiology of patients with short stature cannot be determined just by bone age.