Objective: To establish the norms and clinical application standards of mass spectrometry method to measure vitamin D in capillary blood. Methods: Following the "Province-City-Hospital" sampling procedure, a cross-sectional sample of 1 655 healthy children under 7 years of age were recruited from 12 provinces, autonomous regions, or municipalities in China from November 2020 to December 2021. Both venous and capillary blood samples from the same individual were collected, for which serum 25(OH)D levels were measured by high-performance liquid chromatography-mass spectrometry (HPLC-MS/MS) method. Pearson correlation analysis and linear regression analysis were used to detect the correlation and determine a correction algorithm. The agreement was analyzed using Bland-Altman plot and Kappa statistic. The sensitivity and specificity were evaluated using receiver operating characteristic (ROC) curve method. Results: Venous and capillary 25(OH)D levels of 1 655 healthy children under 7 years of age were 74.25 (59.50, 92.00) and 68.75 (54.44, 86.25) nmol/L, respectively, showed a significant difference(Z=22.14, P<0.001) as well as a highly significant correlation between venous and capillary 25(OH)D levels(r=0.95, P<0.001). Linear regression analysis was then performed to determine the correction algorithm: lg(corrected capillary 25(OH)D)=0.13+0.95×lg(capillary 25(OH)D)(R²=0.90,P<0.001). The deviation between venous and corrected capillary 25(OH)D levels was (0.50±17.50) nmol/L, a difference value that did not reach statistical significance (P>0.05). The cut-off values of capillary blood 25(OH)D values 30.00, 50.00, 75.00 nmol/L corresponding to venous blood 25(OH)D values were 26.59, 45.56, and 69.84 nmol/L, respectively. Good consistency was observed between venous and corrected capillary 25(OH)D levels in clinical diagnosis (Kappa value 0.68-0.81). Corrected capillary 25(OH)D showed a high clinically predictive value (area under curve 0.97-0.99,sensitivity 0.72-0.92,specificity 0.89-0.99). Conclusion: The standardized capillary HPLC-MS/MS method can be used to detect 25(OH)D levels in children clinically.
Child ; Humans ; Vitamin D ; Cross-Sectional Studies ; Tandem Mass Spectrometry ; Vitamins ; Reference Standards

Accurate segmentation of ground glass nodule (GGN) is important in clinical. But it is a tough work to segment the GGN, as the GGN in the computed tomography images show blur boundary, irregular shape, and uneven intensity. This paper aims to segment GGN by proposing a fully convolutional residual network, i.e., residual network based on atrous spatial pyramid pooling structure and attention mechanism (ResAANet). The network uses atrous spatial pyramid pooling (ASPP) structure to expand the feature map receptive field and extract more sufficient features, and utilizes attention mechanism, residual connection, long skip connection to fully retain sensitive features, which is extracted by the convolutional layer. First, we employ 565 GGN provided by Shanghai Chest Hospital to train and validate ResAANet, so as to obtain a stable model. Then, two groups of data selected from clinical examinations (84 GGN) and lung image database consortium (LIDC) dataset (145 GGN) were employed to validate and evaluate the performance of the proposed method. Finally, we apply the best threshold method to remove false positive regions and obtain optimized results. The average dice similarity coefficient (DSC) of the proposed algorithm on the clinical dataset and LIDC dataset reached 83.46%, 83.26% respectively, the average Jaccard index (IoU) reached 72.39%, 71.56% respectively, and the speed of segmentation reached 0.1 seconds per image. Comparing with other reported methods, our new method could segment GGN accurately, quickly and robustly. It could provide doctors with important information such as nodule size or density, which assist doctors in subsequent diagnosis and treatment.
Algorithms ; China ; Disease Progression ; Humans ; Multiple Pulmonary Nodules ; Neural Networks, Computer ; Tomography, X-Ray Computed/methods*

Multiple endocrine neoplasia-IIb (MEN-IIb) is a rare hereditary autosomal dominant syndrome caused by mutations in the RET proto-oncogene. It's characterized by medullary thyroid carcinoma (MTC), pheochromocytoma (PHEO), mucosal neuromas, and Marfanoid habitus. Because of the rarity of MEN-IIb and finiteness of clinical cognition, the majority of the patients suffer a delayed diagnosis. A MEN-IIb patient with the lingual mucosal neuromas since childhood was admitted in the Third Xiangya Hospital of Central South University in November, 2018. He had surgical history of mitral valve prolapse and spinal deformity. He was diagnosed with MTC and PHEO at the age of 22 and 28, respectively, and received surgical treatments. Sequencing of RET gene revealed a de novo heterozygous p.M918T mutation in the patient. Being aware of the unique clinical phenotype and screening of RET gene mutation may lead to the early diagnosis and better long-term outcome for MEN-IIb.
Adrenal Gland Neoplasms ; Child ; Genes ; Humans ; Male ; Multiple Endocrine Neoplasia ; Multiple Endocrine Neoplasia Type 2a/genetics* ; Multiple Endocrine Neoplasia Type 2b/genetics* ; Mutation ; Proto-Oncogene Proteins c-ret/genetics* ; Thyroid Neoplasms/genetics*

Objective: Autoimmune polyendocrine syndrome type Ⅰ(APS-Ⅰ) is caused by mutations in the autoimmune regulator gene (AIRE) gene. In this study, phenotype and AIRE gene analysis were performed in two patients with APS-Ⅰ. Methods: Peripheral blood samples were collected from two patients with APS-Ⅰ and their families. All exons of the AIRE gene and adjacent exon-intron sequences were amplified by PCR and subsequently sequenced. The silico analysis was performed to predict the possible impact of the mutations on the function of the AIRE protein. At the same time, 100 healthy controls were selected to confirm the mutation. Results: Case 1 was a 31-year-old female who exhibited chronic mucocutaneous candidiasis, hypoparathyroidism, Addison′s disease, Hashimoto′s thyroiditis, and premature ovarian failure. A homozygous c. 483_484insC mutation in exon 4 of AIRE gene was identified in this patient. Her parents, siblings and son were heterozygous for this mutation, which is consistent with the autosomal recessive inheritance pattern. Case 2 was a 34-year-old male who had mucocutaneous candidiasis, Addison′s disease, primary hypoparathyroidism, and Hashimoto′s thyroiditis. A compound heterozygous AIRE mutation (c.179A>G/C.463+ 2T>C) were identified in this patient. His father was heterozygous for c. 179A>G mutation, and his mother was heterozygous for C. 463+ 2T>C, which is consistent with autosomal recessive inheritance mode. The c. 483_484insC and c. 463+ 2T>C have been reported to be pathogenic. The c. 179A>G mutation was predicted pathogenic by SIFT and PolyPhen2 software, which was not detected in 100 healthy controls. It has not been reported in the HGDM database and is a novel mutation. Conclusion We identified a novel AIRE gene mutation (c.179A>G), which contributed to further understanding of the pathogenesis of APS-Ⅰ. The clinical variation and rarity of APS-Ⅰ makes the syndrome hard to recognize. Early recognition of symptoms and screening for AIRE mutation in patients with APS-Ⅰ has important clinical implications for the diagnosis and treatment.

Two patients with primary hypertrophic osteoarthropathy (PHO) and their available healthy family members were studied.All exons of the SLCO2A1 and HPGD gene and adjacent exonintron sequences were amplified by PCR and subsequently sequenced.To assess the damaging effects of missense mutations in silico,the online database,PolyPhen-2 and SIFT were used.We identified two homozygous mutations in SLCO2A1 gene:one was c.1106G＞A (p.G369D) in exon 9,the other was c.611C＞T (p.S204L) in exon 4.No HPGD mutation was found in the affected individuals.The two mutation were predicted in silico by the bioinformatic tools.Our study further supports the role of mutations in the SLCO2A1 gene in the pathogenesis of PHO.Identification of the genotype in PHO may not only help the clinical diagnosis of PHO but also help the interpretation of genetic information for prenatal diagnosis and genetic counseling.

Neurofibromatosis Type 1 (NF1) is an autosomal dominant genetic disorder caused by NF1 gene mutations. Café au lait spots, neurofibromatosis, Lisch nodules, axillary freckling, dermal neurofibromas and skeletal dysplasia are the most common manifestations for this disease. A 11-year-old boy visited Third Xiangya Hospital, Central South University due to growth-retardation. He was eventually diagnosed as NF1 with growth hormone deficiency. A novel heterozygous splicing mutation c.6579+2 T>C (IVS 34+2 T>C) of NF1 gene was identified in the patient and his mother. Considering NF1 may present with short stature due to growth hormone deficiency, all children with short stature combined with café au lait spots should be screened for NF1, which may assist the clinical diagnosis and the genetic counseling.
Cafe-au-Lait Spots ; diagnosis ; genetics ; Child ; Genes, Neurofibromatosis 1 ; Growth Hormone ; deficiency ; Humans ; Male ; Mutation ; Neurofibromatosis 1 ; blood ; diagnosis

OBJECTIVE: To evaluate the safety and effect of foley catheter traction for hemorrhage after postmicrochannel percutaneous nephrolithotomy (mPCNL). METHODS: Eighty-eight patients with upper urinary calculi were collected prospectively at the Department of Urology of Xiangya Hospital of Central South University from November 2010 to June 2011. The patients underwent mPCNL, and were divided into 2 groups randomly: 45 patients with 16F foley catheter but without traction served as the control group, and the other 43 patients with 16F foley catheter traction served as the experiment group. Blood loss was estimated by the mass of hemoglobin in the draining liquid and urine during postoperative duration through the HiCN. The blood loss and bleeding time were compared in the 2 groups, and analyzed by Wilcoxon rank sum test. RESULTS: There was statistical difference in the average blood loss between the control group (13.830 g) and the experiment group (7.959 g, P<0 .001). The mean bleeding time was 4 and 3 days in the control group and the experiment group respectively. CONCLUSION Foley catheter traction for mPCNL can reduce the blood loss, suggesting that Foley catheter traction is safe, effective and feasible.
Adolescent ; Adult ; Aged ; Blood Loss, Surgical ; prevention & control ; Child ; Female ; Hemostatic Techniques ; Humans ; Kidney Calculi ; surgery ; Male ; Middle Aged ; Nephrostomy, Percutaneous ; adverse effects ; methods ; Postoperative Hemorrhage ; therapy ; Prospective Studies ; Traction ; Ureteral Calculi ; surgery ; Urinary Catheterization ; Young Adult

Objective To investigate the existence and significance of circulating autoantibodies to thrombopoietin (TPO) in sera from patients with systemic lupus erythematosus (SLE).Methods Fifty-six consecutive patients with SLE,twenty patients with idiopathic thrombocytopenic purpura (ITP),and twenty normal individuals were involved in this study.The characteristics of all patients with SLE were analyzed.Antibodies to TPO were detected using an enzyme-linked immunosorbent assay (ELISA).For normal distribution count data,x2 test or Fisher exact test was used,t test was used for measurement data,and Wilcoxon's rank test for non-normally distributed data which was represented by M(Q).Results A higher frequency of antibodies to TPO were observed in SLE patients than those in healthy controls (39.3％ vs 0,x2=11.058,P=0.001).Moreover,anti-TPO antibodies were detected in 15 (57.7％) of 26 SLE patients with thrombocytopenia,compared with that in 7 (23.3％,x2=6.894,P=0.009) of 30 patients without thrombocytopenia.Furthermore,the patients with antibodies to TPO exhibited more severe thrombocytopenia (t=3.010,P=0.004).Finally,anti-TPO antibodies seemed more likely to occur in patients with arthritis (x2=5.959,P=0.015),anti-dsDNA antibodies (x2=5.959,P=0.015).Conclusion The high incidence of antibodies to TPO in SLE patients with thrombocytopenia suggests that anti-TPO antibodies might play a vital role in SLE patients developing thrombocytopenia.Thus,there might be a clinical value by detecting anti-TPO antibodies in SLE patients with thrombocytopenia.

Objective To investigate the hypoglycemic effects of Laminaria japonica (L. japonica) on diabetic model induced by alloxan in rats. Methods Sixty healthy female rats were used to establish diabetic models by injecting alloxan peritoneally, and L.japonica was applied as raw materials for potential marine drugs.The levels of fasting blood glucose (FBG) were detected by automatic blood glucose device. Enzyme linkedimmunoabsorbant assay was applied to determine the insulin level in serum. The shape and structure of isletcells were observed with histopathological staining, and the expression of superoxide dismutase (SOD) and inducible nitric oxide synthase (iNOS) in islet cells were detected by immunohistochemical technique. Results After the treatment, the levels of FBG of L.japonica treated group B [(9.37±1.70) mmol/LandC (9.18±1.65 ) mmol/L, F= 32.81, q=6.35～11.72, P<0.05 ] reduced, while the serum levels of insulin in treated group A, Band C (0.0378±0.0026, 0.0378±0.0027, 0.0367±0.0035) increased(F= 11.40, q=4.28～8.47, P<0.05) significantly than those of diabetic model group (0.0456 ±0.0057) . The shape and structure of islet cells improved with the up-expressing SOD(t=4.73～4.76, P<0.05)and down-expressing iNOS (t=4.81～5.30, P<0.05) in L.japonica treated group B and C than those in diabetic model group. Conclusion L.japonica might decrease the serum level of FBG through promoting the islet cell recovery by an anti-oxide effect.