Objective To discuss the effect of neonatal congenital hypothyroidism (CH)screening in preterm infants.Methods The result of 208 713 cases neonatal congenital hypothyroidism screening in Guangzhou neonatal screening center were analyzed,including 11589 cases preterm infant and 197 124 cases of full term.The difference of screening positive rate and incidence between preterm infants and full term infants group were compared and the efficiency of preterm infants congenital hypothyroidism screening were estimated.Results A total of 208 713 newborns were screened and the screening positive rate was 1.39%.123 cases were confirmed positive for CH and the incidence rate was 1 /1 697.124 cases were screening positive in preterm infants and the screening posi-tive rate was 1.06%.14 cases were confirmed positive for CH and the incidence rate was 1 /828 in preterm infants group.2 771 cases were screening positive in full term infants and the screening positive rate was 1.41%.109 cases were confirmed positive for CH and the incidence rate was 1 /1 809 in full term group.The screening positive rate was lower and the incidence rate of preterm infants group(χ2 =4.89,P <0.05)was higher than that of the full term infants group(χ2 =8.26,P <0.05).Conclusion The incidence rate of congenital hypothyroidism is higher in preterm infants.Neonatal screening is an effective measure for early diagnosis of preterm infants congenital hypothyroidism.

Objective To investigate the expression of tissue factor and explore its clinical significances in pulmonary artery after acute pulmonary thromboembolism.Methods Thirty-four Japanese white rabbits (Level Ⅱ animals) were randomly (random number) assigned into four groups:group A (specimen of pulmonary artery was taken 3 hours after pulmonary embolism,n =8),group B (specimen of pulmonary artery was taken 8 hours after pulmonary embolism,n =8),group C (specimen of pulmonary artery was taken 24 hours after pulmonary embolism,n =8) and control group (pseudo-operations were carried out without injecting autologous blood clots,n =10).The animal model of pulmonary thromboembolism was established by injecting autologous blood clots into jugular vein through a 5F catheter and confirmed by digital subtraction angiography.The mRNA expression of TF in different parts of pulmonary artery was assayed by RT-PCR.The q test was utilized if there was a significant difference in a given continuous variable among three groups analyzed by ANOVA.Results The TF expression in the specimen adjacentto emboli was stable at 3 h,8 h or 24 hours after embolism.The mRNA expression of TF at 3 h and 8 h after embolism was lower in specimen taken from distal-end of morbid pulmonary artery than those adjacent to emboli.While at 24 hours after embolism,there were similar mRNA expressions in specimen either adjacent or distal to emboli.Conclusions The high expression of tissue factor in pulmonary artery tissue adjacent to emboli could lead to locally increased coagulation activity,indicating the necessity of initiating anti-coagulation treatment as soon as possible after acute pulmonary embolism.

Objective To investigate the effects of Matrine (Mat) on the proliferation and cell cycle of the peripheral blood lymphocytes of patients with rheumatoid arthritis.Furthermore,its mechanism of treatment for rheumatoid arthritis (RA) is explored by comparing with methotrexate (MTX).Methods MTr method was used to measure the light-absorption value of the cells treated with different doses of Mat and MTX at different time,and the inhibition rate(IR% ) was calculated.Flow cytometry was used to measure cell cycle of the cells treated with different doses of Mat and MTX for 48 h.Results ① Both MTX and Mat could inhibit the proliferation of PBL in patients with RA and the effect was dose-dependent.The IR%was increased (P＜0.05).IR% at 48 h was higher than IR% at 24 h (P＜0.01).The two medications had no significant difference (P＞0.05).② Both MTX and Mat could change the cell cycle and acted on G1/S point.They both increased the number of cells in G0/G1 phase and decreased cells in S and G2/M phase (P＜0.05).The two medications had no significant difference (P＞0.05).Conclusion Mat inhibits the proliferation and proliferation-dependent processes of PBL in patients with RA.Its effect is comparable to MTX.Mat may have the potential in the trea-tment of RA.

ObjectiveTo investigate the effect of N-acetylcysteine on lung injury induced by cardiopulmonary bypass(CPB) in dogs.MethodsThirty-six healthy adult mongrel dogs of both sexes weighing 15-16 kg were randomly assigned into 2 groups (n =18 each):CPB group (group C) and N-acetylcysteine group(group N).Lung injury was produced by CPB.In group N N-acetylcysteine 150 mg/kg was injected iv immediately before CPB,followed by infusion at 20 mg· kg-1 · h-1 until 60 min after termination of CPB.Blood samples were taken from femoral artery before CPB (T0,baseline),30 and 60 min after termination of CPB (T1,T2 ).Oxygenation index ( OI =PaO2 ÷ FiO2 ) and respiratory index (RI =PA-(a) DO2 ÷ PaO2 ) were calculated.Six animals were sacrificed at each time point.Lung specimens were obtained for microscopic examination,and determination of transforming growth factor-β1 (TGF-β1) mRNA expression,MDA content and SOD activity.ResultsCPB significantly increased RI,MDA content and TGF-β1 mRNA expression and decreased OI and SOD activity at T1 and T2 as compared with the baseline values at T0 in group C.N-acetylcysteine administered before and during CPB significantly attenuated CPB-induced above changes in OI,RI,MDA content,SOD activity and TGF-β1 mRNA expression.Microscopic examination showed that N-acetylcysteine significantly ameriorated CPB-induced lung damage.ConclusionsN-acetylcysteine administered before and during CPB can attenuate CPB-induced lung injury by inhibiting lipid peroxidation response and down-regulating TGF-β1 expression.

Objective To compare the effect of various manipulation of Tuina on surface electromyogram (sEMG) in hemiplegics after stroke. Methods From January to May, 2016, 20 inpatients with hemiplegia after stroke accepted Tuina on bilateral rectus femoris by the same therapist, with the techniques of rolling, patting, rubbing, shaking, kneading and pressing, one minute a manipulation and interval one minute. Integrated electromyography (iEMG), root mean square (RMS) and median frequency (MF) of sEMG were compared, both in rest and during Tuina. Results There was no significant difference of iEMG, RMS and MF between affected and unaffected sides in rest (t<1.147, P>0.05). iEMG and RMS were the most under patting (F>21.376, P<0.001), and MF was the highest under pressing (F>11.772, P<0.001). iEMG, RMS and MF were not very different under other manipulation (P>0.05). iEMG and RMS were less in the affected side than in the unaffected side under patting (P<0.05). Conclusion Various manipulation of Tuina may be different in neuromuscular stimulation, that patting may stimulate more muscles and motor units.

Objective: To reveal the molecular epidemiologic characteristics of glucose-6-phosphate dehydrogenase (G6PD) gene and to evaluate based on the genetic analysis the newborn screening program performance and enzymatic diagnosis of G6PD deficiency in Guangzhou. Methods: G6PD enzyme activities were measured by quantitative fluorescence assay in dry blood spots of 16 319 newborns(8 725 males, 7 594 females) 3-7 days after birth in Guangzhou Newborn Center. They were born in Guangzhou form Oct. 1 to 20, 2016. The cutoff value of G6PD was less than 2.6 U/g Hb in dry blood spots. G6PD deficiency was diagnosed when G6PD<1 700 U/L or G6PD/6PGD<1 in red blood cells. Genetic analysis of G6PD gene was performed on the dry blood spot samples of 823 newborns (including positive 346, negative 477)with various levels of G6PD enzyme activities through fluorescence PCR melting curve analysis(FMCA) to detect 15 kinds of mutations reported to be common among Chinese.G6PD gene Sanger sequency was performed in seven highly suspicious patients with negative results by FMCA. Results: (1) Using the cutoff value of G6PD< 2.6 U/g Hb , a total of 687(4.2%) newborns showed positive screening results, including 560 (6.4%) males and 127(1.7%) females. (2) Among the newborns with positive screening results, 214 males and 122 females were randomly chosen for G6PD gene analysis. The results showed that 197 (92.1%) males were hemizygote and 108(88.6%) females were mutation carriers with one to four alleles. Among the newborns with negative screening results, 41 males with G6PD 2.6-2.8 U/g Hb and 436 females with G6PD 2.6-4.5 U/g Hb were chosen for genetic analysis.Mutations were detected in 5(12.2%)boys, and 226(51.8%) girls were carriers.G6PD gene Sanger sequency of seven highly suspicious patients showed that c.406C>T, c.551C>T, c.835A>T hemizygote were found in 3 male's samples, respectively. (3) The estimated prevalence of harboring mutation was 6.0% in males and 13.5% in females according to rates of mutation in samples with various levels of G6PD enzyme activities. Six common mutations were c.1388G>A、c.1376G>T, c.95A> G, c.871G>A, c.1024C>T, c.392G>T, accounting for 95.5% of detected alleles .(4) based on results of G6PD gene analysis, the newborn scereening of G6PD deficiency with cutoff value G6PD<2.6 U/g Hb yielded a positive predict value(PPV) of 93.5%, a false-positive rate of 0.5%, and a sensitivity of 99.0% for males. A PPV of 88.5%, a false-positive rate of 0.2% . The prevalence of severe type G6PD deficiency in females was about 1.5%. Compared with to genetic analysis, the sensitivity and PPV of G6PD activity assay in red blood cells were 95.5%, 97.2%, respectively. Conclusions The prevalence of G6PD deficiency in males was 6.0% in Guangzhou. Six mutations c.1388G>A, c.1376G>T, c.95A>G, c.871G>A, c.1024C>T, c.392G>T accounted for 95.5%. The cutoff value of G6PD<2.6 U/g Hb innewborn screening program and the criteria of biochemical diagnosis could accurately identify G6PD deficiency . Combined with biochemical and molecular analysis will improve the accuracy of diagnosis of G6PD deficiency and detect more heterozygous females.

The majority patients of differentiated thyroid carcinoma (DTC) with indolent progression have general good prognosis after standard primary treatments including surgery, thyroid stimulating hormone (TSH) suppression and radioactive iodine (RAI) therapy. However, there are still some patients suffered from recurrence or distant metastasis after initial treatment. They may lose the ability of uptaking iodine during their natural course of disease or treatment and could not benefit from subsequent RAI treatment, which will result in radioiodine-refractory differentiated thyroid cancer (RAIR-DTC). Options are very limited for RAIR-DTC patients, which is associated with a poor prognosis. Recently, with the research advances on the molecular mechanism of RAIR-DTC, redifferentiation combined with RAI therapy have been increasingly used to treat RAIR-DTC, and some outcomes are quite encouraging. This paper reviews the progress of signaling pathway inhibitors, histone deacetylase inhibitors, DNA methyltransferase inhibitors, retinoids and peroxisome proliferator-activated receptor agonists in redifferentiating therapy of RAIR-DTC.

The vast majority of thyroid cancers show a good prognosis. However, the treatment of locally advanced thyroid cancer presents a huge problem. The wide application of targeted and immunotherapy in neoadjuvant therapy for locally advanced thyroid cancer has become a new therapeutic direction. This article summarizes the research on neoadjuvant chemotherapy, radiotherapy, and targeted therapy and immunotherapy related to various pathological types of thyroid cancer, with a focus on the recent advancements and thoughts on the application of targeted and immunotherapeutic drugs in neoadjuvant therapy. The results provide additional options for the clinical treatment of locally advanced thyroid cancer.

Objective To evaluate the effectiveness of nutritional support in the treatment of primary chylous reflux obstacle caused by primary lymphatic dysplasia among infants and investigate the effects of the essential components of therapeutic formula milk in treating this disease.Methods Seven infants,who were diagnosed at Beijing Shijitan Hospital between 2012 and 2014 with primary chylous reflux obstacle and aged (8.9±4.6) months at the onset,were retrospectively analyzed to evaluate effectiveness of the nutrition support and prognosis of the disease.Results After personalized enteral nutrition support (using proteins,short peptides and medium-chain triglyceride) of (8.3±2.8) months,heights and weights of all the seven infants were kept between the 3rd and 97th percentile lines,and the growth curve showed onward and upward trend.Their plasma albumin levels reached (43.7±4.4) g/L.The infants defecated 1-2 times a day and the texture of feces was formed and soft with yellow color.Conclusion Clinical symptoms and physical signs of the seven infants were improved after nutrition support,which contributed to the recovery.

Objective: To explore the TPO, DUOX2 and DUOXA2 genotypes and phenotypes of children with permanent congenital hypothyroidism(PCH) suspected dyshormonogenesis in Guangzhou, identified and treated at Guangzhou Newborn Screening Center. Six of them were born between 2011 and 2012. Method: Retrospectively analyzed the clinical data of 9 children with PCH suspected dyshormonogenesis. Genetic analysis of TPO, DUOX2 and DUOXA2 genes were performed with Sanger sequencing. Result: Of the 9 patients, four were identified variants in TPO gene including three cases with biallelic variants and one case with monoallelic variant. Novel c. 1784G>C( p. R595T) variant in TPO was predicted to be damaging by SIFT and PolyPhen-2. Four patients harbored monoallelic known variants in DUOX2 gene and the other one harbored heterozygous known mutation c. 738C>G(p.Y246X) in DUOXA2 gene.Two adolescent patients with biallelic variants in TPO gene showed classical PCH phenotypes with thyroid goiter or nodules. The six patients with monoallelic variant in TPO, DUOX2 or DUOXA2 presented variable phenotypes. Among the 433 578 newborns in the 2011-2012 cohort, there were 156 cases of CH. Six of these cases were PCH suspected dyshormonogenesis, among which 1 case was confirmed TPO biallelic variants and 5 cases were monoallelic variants of TPO, DUOX2, or DUOXA2 genes. Conclusion TPO and DUOX2 variants are the common molecular pathogenesis in children with PCH suspected dyshormonogenesis. Monoallelic variants in TPO, DUOX2 or DUOXA2 are associated with PCH and showed wide variability in their phenotypes. The novel variant p. R595T in TPO is probably a pathologic variant. The prevalence of PCH caused by TPO gene defects is rare in Guangzhou.