Objective To research the clinical value of serum thyroid peroxidase (TPOAb) in screening thyroid dysfunction in pregnancy.Methods The concentration of serum TPOAb and TSH(thyroid-stimulating hormone) was detected by MEIA and CMIA in 75 cases of pregnant women with thyroid disfunction,and 145 cases of pregnant women without tyhroid dysfunction (as control group).Results There were significant differences in both TSH and TPOAb levels between pregnant women with and without thyroid dysfunction(P0.05). So the normal serum TSH could not completely exclude the thyroid dysfunction in pregnant women.Conclusion TPOAb can be used as a prenatal screening marker for early diagnosis of thyroid dysfunction in pregnancy. From the diagnostic point, TSH can not completely substitute for TPOAb and the abnormal TPOAb can indicate the possibility and risk for autoimmune thyroid disease in pregnant women.

Objective To retrospectively compare CT and MR features of hepatocellular adenoma with pathologic findings.Methods Twelve patients with histopathologically proved hepatocellular adenoma were classified on the basis of pathologic and genotype phenotype findings into four groups:steatotic type,cytological abnormality type,telangiectatic adenoma with inflammatory infiltrates type and atypical adenoma type.The CT and MR features of each type were reviewed retrospectively compared with the pathological results.Results In this retrospective study,12 patients were examined with CT (8 patients) and MR (8 patients).Among 12 patients,4 patients showed a steatotic type.One patient showed hypo-density on the non-enhanced CT and 3 patients demonstrated hypo-density on all phases of the post-contrast scans.Two lesions showed iso-intense signal on the in-phase T1 WI with signal dropout on the out-of-phase T1WI,and hypo-intense signal on the T2 WI with fat suppression sequences.One lesion demonstrated moderate hypointense signal on all phases of the post-contrast MRI scans.Two patients with the telangiectatic adenoma irflammatory infiltrates type were found.One patient showed hypo-density on the non-enhanced CT scans and hyper-density on all phases of the post-contrast CT scans.One patient demonstrated iso-intense signal and the other hypo-intense signal on the T1 WI,and both displayed moderate hyper-intense signal on the T2WI with fat suppression sequences and hyper-intense signal with gradual enhancement on all phases of post-contrast MR scans.There were 3 patients with a cytological abnormality type.One patient appeared hypodensity and 1 patient showed uniform iso-density on non-enhanced CT scans.All patients who had undergone contrast-enhanced CT scans were found to have hyper-density on the hepatic arterial-dominant phase and became slightly lower on the portal venous phase.On the delay phase the density reduced further.One mass showed iso-intense signal on the T1WI and hyper-intense signal on the T2WI with fat suppression sequences.There were 3 patients with an atypical adenoma type.One patient appeared uniform hypo-density on the nonenhanced CT and hyper-density on the hepatic arterial-dominant phase and became iso-dense on the portal venous phase.On the delay phase,it was slightly hyper-dense.Two out of the three lesions showed isointense and one hypo-intense signal on the in-phase T1 WI,and hypo-intense,hyper-intense,and iso-intense signal on the T2WI with fat suppression sequences,respectively.Two patients examined on all phases of post-contrast MRI scans.The result was similar to the CT findings.Conclusion The imaging features of hepatocellular adenoma are closely associated with pathological characteristics.

Objective To assess nutritional risks in children with allergic proctocolitis induced by cow milk protein,and to observe the effects of the feeding strategies for them with different interventions in feeding,and then to identify the best time and the best way to modify feeding strategies according to different individual.Methods The effectiveness of different feeding interventions was retrospectively analyzed after 2 weeks in 171 cases with allergic proctocolitis induced by cow milk protein in Hunan Children's Hospital during the period of Jan.2012 to Jul.2013.Thirty-two cases received breast feeding (18.7％) and 139 cases received non-breast feeding (81.3％).Intervention methods:32cases with breast feeding received the same feeding method;among 139 babies with non-breast feeding group,36 were plus free amino acid (AAF) (21.1％),and 103 were plus the extensively hydrolyzed formula (eHF).The intervention formula changes were observed in 8,12 and 24 weeks,respectively,and nutritional risks in 0,3,6 months were assessed,respectively.Results There were 171 patients totally,male to female ratio was 1.5 to 1.0,and the average age was (4.1 ± 1.3) months.After 2 weeks,147 cases were notably effective,accounting for 86％,and in the breast feeding group 79.2％ of the patients were notably effective,and there was no significance compared with the AAF group and eHF group (P ＞ 0.05).The intervention formulation changes during the following 6 months were as follows:in 8 weeks,30 cases in the breast feeding group breastfeeding continued,2 cases turned to eHF feeding for the lack of breast milk,21 cases were fed with AAF (12.3％),85 cases with eHF (49.7％),and 35 cases with moderately hydrolyzed formula (20.5％) ;in 12 weeks:23 cases had breast feeding (13.5％),16 cases were fed with free amino acid formula powder (9.4％),56 cases with extensively hydrolyzed formula (32.7％),and 76 cases with moderately hydrolyzed formula (44.4％) ;in 24 weeks:21 cases (12.3％) had breast feeding,7 cases were fed with AAF(4.1％),13 cases with moderately hydrolyzed formula(7.6％),and 130 cases with normal formula(76.0％).The mean levels of the nutritional risks were assessed according to STAMP in 0,3,6 months respectively:breast feeding group [(1.69 ± 0.78) scores,(1.50 ± 0.88) scores,(1.53 ± 0.67) scores,P ＞ 0.05] ; AAF group [(1.72 ± 0.78) scores,(1.53 ± 0.88) scores,(1.53 ± 0.65) scores,P ＞ 0.05] ; eHF group [(1.80 ± 0.69) scores,(1.68 ± 0.68) scores,(1.66 ± 0.65) scores,P ＞ 0.05].Conclusions The nutrition risk levels in children with milk protein allergic proctocolitis are low,and different feeding interventions according to tolerance had no impact on the nutritional status ; Breast feeding could effectively avoid cow milk allergy,and symptoms of the children with allergic proctocolitis would be relieved after 2-week intervention,and more than half of children could gain part of immune tolerance after intervention for 3 months or more,so for the children with allergic proctocolitis induced by cow milk protein,routine formula feeding should be stopped after 3 months,and individualized feeding intervention can be carried out according to immune tolerance to relieve the financial burden.

OBJECTIVE: To detect pathogenic variant in a juvenile with severe type Cornelia de Lange syndrome (CdLS). METHODS: A 12-year-old female presented with comprehensive developmental retardation and deformity of lower limbs. Genomic DNA was extracted from peripheral blood sample of the patient. Whole exome sequencing was performed to identify pathogenic variants. Putative variant was verified by Sanger sequencing. The impact of variants was predicted and validated by bioinformatic analysis. RESULTS: A de novo missense variant, c.1507A>G (p. Lys503Glu), was found in the NIPBL gene of the proband. The variant was unreported previously and predicted to be pathogenic by PolyPhen-2, MutationTaster and SIFT. Using HomoloGene system, the 503 loci in the NIPBL protein are highly conserved. The change of amino acid (Glu), locating in 503 locus, was found to cause the Neuromodulin_N superfamily domain destroyed, resulting in severe damage to the function of NIPBL protein. CONCLUSION The de novo missense variant c.1507A>G (p. Lys503Glu) of the NIPBL gene probably underlies the disease in this patient.
Cell Cycle Proteins ; genetics ; Child ; De Lange Syndrome ; genetics ; Developmental Disabilities ; genetics ; Female ; Humans ; Mutation, Missense ; Phenotype

OBJECTIVE: To analyze pathogenic variant of CSNK2A1 gene in a boy with Okur-Chung neurodevelopmental syndrome (OCNS). METHODS: The 8-year-old boy presented with growth retardation, intellectual disability and spells of breath holding. With genomic DNA extracted from peripheral blood samples of the patient and his parents, whole exome sequencing was carried out. Putative pathogenic variants were verified with Sanger sequencing. The nature and impact of detected variants were predicted through bioinformatic analysis. RESULTS: A novel de novo missense variant c.149A>G (p.Tyr50Cys) of the CSNK2A1 gene was identified, which was unreported previously. The variant was predicted to be pathogenic by PolyPhen-2, Mutation Taster and SIFT software. Based on a HomoloGene system, 50 loci within the CK2alpha protein are highly conserved. The change of amino acid (Cys) at position 50 has destroyed the ATP binding loop domain, causing serious damage to its function. As predicted by a Swiss PDB viewer, the variant can significantly alter the spatial structure of CK2alpha, resulting in loss of protein function. CONCLUSION The patient's condition may be attributed to the novel de novo missense variant c.149A>G (p.Tyr50Cys) of the CSNK2A1 gene.

Objective:To investigate the application value and treatment opportunity of single balloon enteroscopy in children with Peutz-Jeghers syndrome(PJS).Methods:A retrospective analysis was conducted on 33 children diagnosed with PJS in Hunan Children′s Hospital from January 2011 to September 2021.The patient′s age, gender, family history, clinical symptoms, enteroscopy examination and treatment, number of polyps, intraoperative and pos-toperative complications, surgical treatment, recurrence of surgery, and follow-up data were analyzed, and the chi- square test was used for statistical analysis. Results:A total of 33 PJS children aged (9.00±3.13) years, including 21 males and 12 females, were included.All of them received at least once single balloon enteroscopy test.The main manifestations of the children were black spots (33 cases) and multiple polyps in the digestive tract (31 cases). In all the 33 cases, black spots were distributed on lips.Some black spots were also found at the end of fingers (3 cases), at the end of foot toes(2 cases), and at the end of finger toes (6 cases). During the operation, 391 polyps were removed, most of which were jejunum polyps (37.08%, 145/391 polyps). Eleven children with PJS has intussusception, of which intestinal intussusception accounted for 90.91% (10/11 cases). Ten cases (30.30%, 10/33 cases) received surgical treatment, and 72.73% (8/11 cases) underwent surgery for acute refractory intussusception.One case had intestinal perforation and 2 cases were bleeding during the operation, and the 3 cases recovered completely after hemostatic clip sealing and surgical treatment.The incidence of hollow ileum polyps and giant polyps in children aged >8 years was higher than that in children aged ≤8 years[92.55% (149/161 polyps) vs.7.45%(12/161 polyps), 96.20%(76/79 polyps) vs.3.80% (3/79 polyps)]. The differences were statistically significant ( χ2=9.854, 8.711, all P<0.05). There was no significant difference in the incidence of intussusception among different age groups ( P>0.05). Among the 33 children with PJS, 57.58% (19/33 cases) had recurrence 1-3 years after operation, and no cases of cancer have been followed up so far. Conclusions:Intestinal polyps are common in children with PJS, and the application of single-balloon enteroscopy in children with PJS is reliable and safe.Children over 8 years old are more vulnerable to empty ileum polyps and giant polyps.Therefore, it is advised that children aged above 8 years with PJS should undergo at least once enteroscopy.

Allergic rhinitis (AR) is a global health problem that causes major illnesses and disabilities worldwide. Epidemiologic studies have demonstrated that the prevalence of AR has increased progressively over the last few decades in more developed countries and currently affects up to 40% of the population worldwide. Likewise, a rising trend of AR has also been observed over the last 2–3 decades in developing countries including China, with the prevalence of AR varying widely in these countries. A survey of self-reported AR over a 6-year period in the general Chinese adult population reported that the standardized prevalence of adult AR increased from 11.1% in 2005 to 17.6% in 2011. An increasing number of original articles and imporclinical trials on the epidemiology, pathophysiologic mechanisms, diagnosis, management and comorbidities of AR in Chinese subjects have been published in international peer-reviewed journals over the past 2 decades, and substantially added to our understanding of this disease as a global problem. Although guidelines for the diagnosis and treatment of AR in Chinese subjects have also been published, they have not been translated into English and therefore not generally accessible for reference to non-Chinese speaking international medical communities. Moreover, methods for the diagnosis and treatment of AR in China have not been standardized entirely and some patients are still treated according to regional preferences. Thus, the present guidelines have been developed by the Chinese Society of Allergy to be accessible to both national and international medical communities involved in the management of AR patients. These guidelines have been prepared in line with existing international guidelines to provide evidence-based recommendations for the diagnosis and management of AR in China.
Adult ; Asian Continental Ancestry Group* ; China ; Comorbidity ; Developed Countries ; Developing Countries ; Diagnosis* ; Epidemiologic Studies ; Epidemiology ; Global Health ; Humans ; Hypersensitivity* ; Prevalence ; Rhinitis, Allergic*