[Summary] The genotypes of rs6832151 in the 4p14 were genotyped by Taqman probe technique on FluidigmEPl platform in 617 patients with Graves′disease( GD) and 4 915 health control subjects. The result showed thatRs6832151 Gin4p14wasstronglyassociatedwithGD(OR=1.39,P<0.01),withstatisticalsignificancefor three genetic models according to the locus genotyping ( additive model,dominant model,and recessive model,all P<0.01). There was no statistically significant difference in the sizes of goiter between the genotype subgroups(P>0. 05). The result suggests that rs6832151 G in 4p14 is the susceptibility genes of Graves′ disease in Bengbu population, and is related to the high risk of GD.

Objective To identify the association of thyroid stimulating hormone receptor ( TSHR ) gene intron 1 susceptible loci and 4p14 susceptible locus rs6832151 polymorphisms with Graves’ disease ( GD) in Han Chinese population in Bengbu, Anhui, China. The gene-gene interaction among TSHR intron 1 susceptible loci and 4p14 susceptible locus rs6832151 was also investigated. Methods The genotypes of the single-nucleotide polymorphisms ( SNPs) were analyzed by Taqman probe technique on Fluidigm EP1 platform in 611 patients with GD and 555 control subjects, and linkage analysis, correlation analysis, haplotype analysis, and epistasis analysis with them were performed. Results Six SNPs in two candidate genes(rs12101261, rs4903964,rs179247, rs2284722 and rs17111394 in TSHR, rs6832151 in 4p14) were associated with GD (all P<0. 05). The frequency distributions of haplotypes of SNPs in TSHR intron 1 ( AGTA, GGCG, AATA, and CC) were significantly different between GD and control groups(all P<0. 01). There existed the interactions between rs179247 and rs12101261 in TSHR(P=0. 001) and among rs179247(TSHR),rs4903964(TSHR) and rs6832151(4p14) (P=0. 001). Conclusions rs683215 in 14p14 and rs12101261, rs4903964, rs179247, rs2284722 and rs17111394 in TSHR intron 1 were susceptible loci of GD in the Chinese Han population from Bengbu. The haplotypes in TSHR intron 1 were associated with GD. There exists the interaction between the SNPs in TSHR and 4p14,which may change the risk of GD.

Objective:To investigate the clinical characteristics of neonatal congenital tongue base cyst.Methods:This retrospective study involved 35 neonates with congenital tongue base cyst diagnosed in the neonatal intensive care unit (NICU) of Xi'an Children's Hospital from June 2013 to December 2019. General information, clinical manifestations, supplementary results, treatment and prognosis of these babies were described.Results:(1) The median age at the onset of the disease was 12.5 (0~28) d and the median age at admission was 15 (0~28) d for these babies. The main clinical manifestations were laryngeal stridor (28/35, 80.0%), inspiratory dyspnea and crying, especially when feeding (26/35, 74.3%) and choking and spitting with feeding (23/35, 65.7%). (2) Among the 35 cases, 15 (42.9%) required emergency endotracheal intubation due to significant dyspnea when were admitted to the NICU and five out of them were considered for having tongue base mass under laryngoscopy, while the other 10 cases underwent bedside electronic laryngoscopy after endotracheal intubation, in which space-occupying lesions were found. Tongue base cyst was considered in seven cases with laryngeal stridor complicated by protracted pneumonia using fiberoptic bronchoscopy. The other 13 cases were examined by electronic laryngoscope and considered as tongue base cyst. Thirty-five cases underwent cervical ultrasound and only five of them were considered as tongue base tumor. Thirty-two cases underwent cervical CT scan and only two of them were normal. Three cases were found to have tongue base cyst by cranial MRI. (3) Thirty-four cases were treated by radiofrequency ablation assisted with self-retaining microlaryngoscope and general anesthesia, while the other one firstly received puncture and drainage under direct laryngoscope due to the difficult intubation because of the huge tongue base cyst and then underwent surgery when stable. Only one case (2.9%) relapsed after surgical treatment during regular follow-up.Conclusions:Neonatal congenital tongue base cyst has an early onset and atypical clinical manifestations. Electronic laryngoscopy/fiberoptic bronchoscopy combined with neck CT or MRI examination should be performed promptly in patients with laryngeal stridor and inspiratory dyspnea to facilitate the accurate diagnosis and timely surgery is required for.

Aim To establish method and main evaluation indexes of collagen induced arthritis ( CIA) model in DBA/1 mice. Methods CIA was induced by chicken type Ⅱcollagen ( C Ⅱ) in DBA/1mice. Arthritis was evaluated by arthritis index. X-ray of the paws was taken. Histology pathology of ankles and spleen was observed and scored. Results Immunization d31,the paws of CIA mice appeared red and swelling,the scores of arthritis index increased,the period of swelling peak was from d40 to d60; immunization d35,the weight of CIA mice began to decrease. X-ray of paws showed that the paw joints of CIA mice deformed,and there was osteophyte formation associated with osteolysis. Histo-logical pathology of ankle joints showed that the synovium of CIA mice were hyperplasia,cartilage was destroyed,pannus was formed,and inflammatory cells infiltrated into synovium. Histological pathology of spleen showed more germinal centers and lymphoid follicular hyperplasia were observed,cell density of lymphatic sheath increased,scores of ankle joints and spleen histological pathology in CIA mice were higher than those in normal mice significantly. Conclusions The methods of CIA model induced by chicken C Ⅱ in DBA /1 mouse were reliable and reproducible. CIA incidence was high. Arthritis index,X-ray of paws,ankle joints and spleen histological pathology and so on were the principal indexes of evaluation for CIA model.

Congenital hypothyroidism usually has no specific clinical symptoms in the neonatal period, which can be detected early through newborn screening, and early thyroid hormone replacement therapy can improve the prognosis.Congenital hypothyroidism is associated with the thyroid hypoplasia, thyroid hormone synthesis disorder, low response of thyroid or target organs and central hypothyroidism.With the development of genomics and second-generation gene sequencing, more and more monogenic mutations have been reported to be associated with this disease.The review of CH caused by monogenic mutation is aimed at comprehensively assessing the condition of neonates with CH, providing individualized treatment, guiding long-term follow-up and improving prognosis.

OBJECTIVE To compare the difference of octave band CE-Chirp ABR response threshold and behavioral auditory thresholds in children with hearing loss, and to explore the clinical value of octave band CE-Chirp ABR. METHODS Twenty-one children (40 ears) with hearing loss were selected. The octave band CE-Chirp ABR response threshold and behavioral auditory hearing threshold were measured in quiet environment. The results of two different test methods were compared. RESULTS The frequencies of octave band CE-Chirp ABR response thresholds and behavioral auditory thresholds were statistically analyzed. The correlation coefficients at different frequencies were 0.693, 0.830, 0.836 and 0.845, respectively, and the P values were ＜0.05. CONCLUSION There is good correlation between octave band CE-Chirp ABR response and behavioral auditory hearing measurement. Octave band CE-Chirp ABR, as an objective audiometry technique, has good stability and reliability for the objective response of hearing loss, and can better reflect the hearing level.

OBJECTIVE: To explore the molecular basis for a pedigree affected with coagulation factor V (FV) deficiency. METHODS: Clinical data of the patient and his family members was analyzed. Targeted capture and next-generation sequencing (NGS) and Sanger sequencing were carried out to detect potential variant of the FV gene. RESULTS: The patient presented with jaundice and prolonged prothrombin time (PT) and activated partial thromboplastic time (APTT). V factor activity measured only 0.1% of the normal level, though the patient had no sign of bleeding. A paternal heterozygous variant c.653T>C (p.F218S) and a maternal heterozygous variant c.3642_3643del (p.P1215Rfs*175) were identified in the FV gene of the patient. His elder brother was a heterozygous carrier of the c.653T>C (p.F218S) variant. c.653T>C(p.F218S) was a known pathogenic variant, while the c.3642_3643del (p.P1215Rfs*175) variant was unreported previously. CONCLUSION Mutations of the FV gene probably underlie the hereditary coagulation factor V deficiency in this patient. NGS combined with Sanger sequencing has detected potential variant with efficiency and provided a reliable basis for clinical and prenatal diagnosis for this family.
Aged ; Factor V ; Factor V Deficiency ; genetics ; Genetic Variation ; Heterozygote ; Humans ; Male ; Mutation ; Pedigree ; Phenotype

OBJECTIVE To study the relationship between frequency specific free-field tone burst cortical auditory evoked potentials(CAEP)and aided behavioral audiometry to provide rapid,reliable insights for predicting hearing intervention efficiency in hard to cooperate cochlear implant patients.METHODS The study comprised of 22 cochlear implant pediatric patients(22 ears)free-field tone burst CAEP P1 response thresholds,free-field behavioral thresholds determined within the group across frequencies 0.5,1,2 and 4 kHz were collected for correlation analysis.RESULTS The free-field tone burst CAEP P1 response thresholds and free-field behavioral audiometric thresholds in cochlear implant pediatric patients for testing frequencies 0.5,1,2,4 kHz were compared and r correlation coefficients found were 0.567,0.670,0.637 and 0.762 across the frequencies respectively(P<0.01).The mean difference between free-field CAEP P1 response threshold and free-field behavioral thresholds for cochlear implant patients differ by 5-8 dB with statistical significance.CONCLUSION Free-field tone burst CAEP can be used for cochlear implant programming validation in patients that fail to cooperate in behavioral testing,thus is applicable in cochlear implant programming clinical practice.

Objective: To understand the present situation of physical activity and its influencing factors, and to provide a reference for improving the level of physical activity and making the intervention measures. Methods: The method of random stratification was used to select 4 740 pre school children aged 3-6 from 17 kindergartens in 12 counties and districts of Nanchang City, The questionnaire of physical activities of young children and the questionnaire of parents of physical activities of young children were applied to conduct a survey. Results: Compared with weekday PA and MVPA, preschool children’s weekends decreased, SB increased. The differences in PA, MVPA and SB on weekdays and weekends were statistically significant( P <0.01). The proportion of PA and MVPA reaching the recommended amount during the working day of preschool children were 44.9%-59.2%, 45.4%- 61.7%.The proportion reaching the recommended amount of PA and MVPA on weekends were 24.7%-27.8%, 24.5%-29.9%, and the proportion reaching the recommended amount on weekdays was higher than that on weekends. Conclusion There is still gap between actual amount of physical activity and the recommended amount. There are different modes of activity on weekdays and weekends, and weekends are the least active periods. Parents and teachers should pay enough attention to the establishment of "social campus family" model to improve the lack of physical activity of preschool children.