Neoadjuvant chemotherapy with irinotecan and nedaplatin in a single cycle followed by esophagectomy on cT4 resectable esophageal squamous cell carcinoma: a prospective nonrandomized trial for short-term outcomes.

Neoadjuvant chemotherapy (NAC) significantly extends survival in advanced esophageal squamous cell carcinoma (ESCC), but the short-term outcomes for cT4 ESCC remain controversial. Many NAC regimens have been previously reported, although no study has reported a regimen of irinotecan and nedaplatin for cT4 potential resectable ESCC. We evaluated the short-term outcomes of NAC with irinotecan and nedaplatin in a single cycle followed by esophagectomy on cT4 resectable ESCC. A total of 51 patients with cT4 potentially resectable ESCC were eligible for this study. Twenty of these patients underwent NAC, and the other 31 patients underwent surgery alone. The toxicities and response of NAC were evaluated. The clinicopathologic characteristics, responses, toxicities, surgical outcomes, postoperative complications, and survival time between the two groups were analyzed. No significant differences were found in clinicopathologic characteristics between the groups (P > 0.05). The response rate of NAC was 75% (15/20). The differences in the long-axis diameter of the tumor and cT stage between pre- and post-NAC were significant (P < 0.05). Twenty-four toxic events occurred in 11 patients of the NAC group, and 20/24 of these were mild. The R0 resection rates in the NAC group and the surgery alone group were 85% and 64.5%, with no statistically significant difference (P > 0.05). Differences in the pathological T stage and pathological tumor-node-metastasis (TNM) stage were significant (P < 0.05). The overall survival (OS) time and mortality in the NAC group versus the surgery alone group were 31.57 ± 3.06 months versus 15.24 ± 1.46 months and 25% versus 61.3%, respectively. The differences in OS and mortality were significant (P < 0.05). The NAC group and R0 resection were significant and independent predictors of positive prognosis. NAC with irinotecan and nedaplatin in a single cycle followed by esophagectomy on cT4 resectable ESCC as a new NAC is safe and effective.

[A cross-sectional study of the clinical features and physician visit patterns at onset of immunoglobulin G4 related disease].

OBJECTIVE: To comprehend clinical features and patient's physician visit patterns at onset of immunoglobulin G4 related disease (IgG4RD). METHODS: In the study, 100 patients with IgG4RD who received treatments in the Department of Rheumatology and Immunology of Peking University People's Hospital from Apr. 1st, 2017 to Apr. 1st, 2018 were investigated, including gender, age, height, body weight, age of onset, physician visit history, primary history and how did the disease affected their life, etc. RESULTS: In this 100 IgG4RD cohort (57 males and 43 females), the male/female ratio was 1:0.75, the mean age of onset was (51.51±12.9) years, and the median duration was 49 months (ranging from 4 to 231 months). The onset age of males was significantly older than that of females (P<0.01). The manifestations showed that up to 69% patients had submaxillay glands lesion, 59% patients had lacrimal glands lesion, 28% patients had pancreas involvement and 28% patients had parotid glands involvement. The females had more lacrimal glands involvement (P<0.05). 62% patients were complicated with anaphylactic disease. The primary physician visit departments concentrated upon general surgery department (19/100), oral and maxillofacial surgery department (17/100), rheumatology and immunology department (16/100), ophthalmology department (15/100) and gastroenterology department (10/100). The departments where the confirmed diagnose was made concentrated upon rheumatology department (67/100),oral and maxillofacial surgery department (16/100) and gastroenterology department (7/100). The mean diagnosis duration after 2010 was (16.96±2.163) months, significantly shorter than that before 2010, which was (113.3±11.01) months. Before the definite diagnose was made, 43% patients underwent surgeries and 12% patients had more than one time surgeries. The patients whose first-visit department was a surgery department were more likely to undergo surgeries (P<0.01). 18% patients (18/100) stated that the disease had affected their work. CONCLUSION: In this cohort of the IgG4RD patients, female is common and has earlier onset age than male. The major manifestations of IgG4RD are salivary glands, lacrimal glands and pancreas involvement. The common chief complains are salivary glands and lacrimal glands enlargement. Accompanied by anaphylactic disease is a marked manifestation of this disease. Delayed diagnoses are not rare, though this situation has been improved since 2010, and more attention still should be paid to the disease.

Ultrabithorax and abdominal-A specify the abdominal appendage in a dosage-dependent manner in silkworm, Bombyx mori.

In insects, there is a considerable diversity in leg distribution on the body, including number, segmental arrangement, morphological identity and consequent function, but the genetic basis for these differences is not well understood. Here by positional cloning, we showed that a ~355 kb region, including Bombyx mori Ultrabithorax (BmUbx) and abdominal-A (Bmabd-A), was responsible for the silkworm mutant Kh-extra-crescents-like (EKh-l) that displayed additional thoracic limb-like legs on the first abdominal segment (A1) and occasionally on the second abdominal segment (A2). We found that BmUbx gene was downregulated at both messenger RNA level and protein level in EKh-l embryo, while its expression domain in the EKh-l embryo was almost the same as that in the wild type. Whereas Bmabd-A was upregulated at both levels and was ectopically overexpressed on the supernumerary leg-bearing segments in EKh-l. Compared with the previously reported Ecs-l mutant in which increased expression of both BmUbx and Bmabd-A gave rise to ectopic proleg-like appendages on the same segments, we propose that overexpressed Bmabd-A gene is capable to promote the outgrowth of extra leg appendages on A1 and A2 segments, whereas BmUbx gene is required to specify accurate morphologies of the ectopic legs in a dosage-dependent manner in silkworm. These results provide insights into how these hox genes regulate the leg morphologic diversity on the same segments.

[HER-2 expression and clinical significance in esophagogastric junction adenocarcinoma (Siewert type â ¡)].

OBJECTIVE: To investigate the human epidermal growth factor receptor-2 (HER-2) expression in esophagogastirc junction adenocarcinoma(Siewert type Ⅱ)and its clinical significance. METHODS: A total of 180 patients with esophagogastric junction adenocarcinoma (Siewert type Ⅱ) were included in this study. The HER-2 expression was detected by immunohistochemistry (IHC), and fluorescence in situ hybridization (FISH) analysis was performed to assess the HER-2 gene amplification in the IHC-positive and IHC-weak positive cases. RESULTS: HER-2 overexpression (3+ ), weak positive (2+ ) and negative (1+ /0) was 11.7%(21/180), 8.9%(16/180), and 79.4%(143/180), respectively. The FISH analysis showed HER-2 gene amplification in 95.2%(20/21) of HER-2(3+ ) cases and 18.8% (3/16) of HER-2(2+ ) cases. The concordance rate between IHC and FISH was 95.2%. Overexpression of HER-2(3+ ) was associated with the tumor differentiation (P<0.05), and irrelevant to age, sex, pT stage, pN stage, pM stage and pTNM stage (P>0.05). The median overall survival time (OS) was 13 months in HER-2(3+ ) patients, significantly shorter than the 21 months in HER-2(2+ ) and HER-2(+ /-) cases (P<0.01). CONCLUSIONS: Approximately 11.7% of the patients with esophagogastric junction adenocarcinoma (Siewert type Ⅱ) are HER-2-positive on IHC. HER-2 overexpression is associated with the tumor differentiation. IHC can be used as a screening test for the positive expression of HER-2 in the esophagogastirc junction adenocarcinoma (Siewert type Ⅱ). However, FISH detection can be used as a more reliable detection method.

[Phosphatase and tensin homolog deleted on chromosome ten/phosphatidyl Inositol 3-kinase/vascular endothelial growth factor signaling pathway changes in the rabbit Kawasaki disease model].

OBJECTIVE: To observe the changes of phosphatase and tensin homolog deleted on chromosome ten(PTEN)/ phosphatidyl Inositol 3-kinase(PI3K)/ vascular endothelial growth factor(VEGF)signaling pathway in a rabbit Kawasaki disease model. METHODS: Model of Kawasaki disease was established in weanling Japanese big-eared rabbits with 10% bovine serum venous injection (2.5 ml/kg, 2 times, and 2 week's interval) through the ear. Twenty four rabbits were divided into 4 groups: control group (without injection of 10% bovine serum albumin, six rabbits); 1 day group (sacrificed a the second day after the establishment of Kawasaki disease models, six rabbits); 7 day group (sacrificed at the seventh day after establishment of Kawasaki disease model, six rabbits); 30 day group (sacrificed at the thirtieth day after establishment of Kawasaki disease model, six rabbits). Pathological analysis was performed on coronary artery tissue samples. The express of PTEN and PI3K were detected by immunohistochemistry. The levels of VEGF and CK were also examined with ELISA and white blood cells were counted. RESULTS: (1) Coronary artery of model groups was thinner, distorted and had enlarged lumen. (2) PTEN expression in 1 d group, 7 d group and 30 d group were 58.5 ± 12.9, 73.2±9.9 and 109.6 ± 24.4, respectively, significantly higher than in the control group (25.5 ± 6.9, P<0.01 or 0.05). (3) The express of PI3K was significantly upregulated in 1 d group(57.2±11.1)and 7 d group(39.9±4.8) compared to control group(19.1±3.5, P<0.01 or 0.05). The expression level of PI3K in 30 d group was 18.8 ± 7.5, which was similar as control group (P>0.05) and significantly lower than 1 d and 7 d group (both P<0.05). (4) Similarly, the level of VEGF in 1 d group, 7 d group ((89.1 ± 15.5) ng/L, (76.9±9.9) ng/L) were significantly higher while it was significantly lower in 30 d group ((19.8 ± 4.4)ng/L) compared with the control group ((33.9 ± 6.7) ng/L, P<0.01 or 0.05). The level of VEGF in 7 d group was significantly lower than in 1 d group (P<0.05) and the level of VEGF was significantly lower in 30 d group than in 7 d group (P<0.01). (5)Creatine kinase levels were significantly higher in 30 d group than in control group (P<0.05) and there were no significantly different between control group, 1 d group and 7 d group(all P>0.05). (6)White blood cell count were significantly higher in 1 d group, 7 d group and 30 d group than in control group (all P<0.01). CONCLUSION: The level of PTEN/PI3K/VEGF signaling pathway change after establishment of rabbit Kawasaki disease model and the signaling pathway might be involved in this model.

Fine mapping of a supernumerary proleg mutant (E(Cs) -l) and comparative expression analysis of the abdominal-A gene in silkworm, Bombyx mori.

Patterning and phenotypic variations of appendages in insects provide important clues on developmental genetics. In the silkworm Bombyx mori, morphological variations associated with the E complex, an analogue of the Drosophila melanogaster bithorax complex, mainly determine the shape and number of prolegs on abdominal segments. Here, we report the identification and characterization of the allele responsible for the supernumerary crescents and legs-like (E(Cs) -l) mutant, a model derived from spontaneous mutation of the E complex, with supernumerary legs and extra crescents. Fine mapping with 1605 individuals revealed a ∼68 kb sequence in the upstream intergenic region of B. mori abdominal-A (Bmabd-A) clustered with the E(Cs) -l locus. Quantitative real-time PCR (qRT-PCR) and Western blotting analyses disclosed a marked increase in Bmabd-A expression in the E(Cs) -l mutant at both the transcriptional and translational levels, compared to wild-type Dazao. Furthermore, we observed ectopic expression of the Bmabd-A protein in the second abdominal segment (A2) of the E(Cs) -l mutant. Our results collectively suggest that the 68 kb region contains important regulatory elements of the Bmabd-A gene, and provide evidence that the gene is required for limb development in abdominal segments in the silkworm.

Antennapedia is involved in the development of thoracic legs and segmentation in the silkworm, Bombyx mori.

Homeotic genes, which are associated closely with body patterning of various species, specify segment identity. The Wedge eye-spot (Wes) is a new homeotic mutant located on the sixth linkage group. Homozygous Wes/Wes embryos are lethal and display a pair of antenna-like appendages under the mouthparts as well as fused thoracic segments. These mutants also exhibit a narrower eye-spot at the larval stage compared with the wild type. By positional cloning, we identified the candidate gene of the Wes locus, Bombyx mori Antennapedia (BmAntp). Two BmAntp transcripts were identified in the homozygote of the Wes mutant, including a normal form and an abnormal form with a 1570-bp insertion. Our data showed that the insertion element was a long interspersed nuclear element (LINE)-like transposon that destroyed the original open reading frame of BmAntp. Quantitative RT-PCR analysis showed that the expression levels of normal BmAntp transcripts were increased markedly in the Wes heterozygous larvae compared with the wild type. Furthermore, we performed RNAi of BmAntp and observed fused thoracic segments and defective thoracic legs in the developing embryos. Our results indicated that BmAntp is responsible for the Wes mutant and has an important role in determining the proper development of the thoracic segments. Our identification of a homeotic mutation in the silkworm is an important contribution to our understanding of the regulation of Hox genes at different levels of expression.

First Report of the Root-Knot Nematode Meloidogyne arenaria Infecting Noni in China.

Noni (Morinda citrifolia) is an important medicinal plant and its fruit and root are of high value. In recent years, noni has been cultivated widely on Hainan Island, China. A survey of eight commercial noni fields in four counties found that most fields had plants with symptoms consistent with damage caused by root-knot nematodes. Above-ground symptoms included reduced vigor, plant stunting, and chlorosis. Affected roots were galled, swollen, cracked, and rotten. Fruit loss associated with diseased plants was quantified as 85%. In each field, three samples were taken consisting of 15 cm wide × 20 cm deep soil (containing roots). The nematode population was extracted and quantified according to Barker (1). Nematodes were found in all soil and root samples with population densities ranging from 450 to 835 eggs and second-stage juveniles (J2s) per 200 g subsample of soil, and 685 to 985 eggs and J2s per 10 g sub-sample of fresh roots. Three single egg masses were respectively hand-picked from one sample of diseased noni roots and inoculated onto tomato plants grown with sterilized soil at 20 to 28°C in the greenhouse. After 8 weeks, nematodes were extracted from the roots of tomato plants and identified by morphology, enzyme analysis, and molecular characterization. Morphology of the female perineal patterns showed a low dorsal arch with large lateral lines separating the striae of the dorsal and ventral sectors, leading to the tail terminus; and wavy, coarse striae with forking at lateral lines and short irregular striae near the lateral lines. Enzyme analysis of the esterase phenotype was also typical of the A1 phenotype in M. arenaria. Based on the perineal pattern and esterase phenotype, the Meloidogyne species was identified as M. arenaria (Est A1) (3). Total genomic DNA was extracted from ca. 10 µl of packed second-stage juveniles (J2s) using the method of Cenis (2). The primers C2F3 (5'-GGTCAATGTTCAGAAATTTGTGG-3') and 1108 (5'-TACCTTTGACCAATCACGCT-3') (4) was used to amplify the intergenic region between COII and LrRNA genes of the mtDNA and an amplification product (1,700 bp) was obtained, similar to M. hispanica, M. incognita, and M. javanica. Root-knot nematodes (Meloidogyne spp.) have been reported to be cause disease on noni in Hawaii. However, to our knowledge, this is the first report of M. arenaria (Est A1) infecting noni in China. References: (1) K. R. Barker. Pp. 19 in: An Advanced Treatise on Meloidogyne. Vol. II, Methodology. K. R. Barker et al. eds. North Carolina State University Graphics, Raleigh, 1985. (2) J. L. Cenis. Phytopathology 83:76,1993. (3) P. E. Esbenshade and A. C. Triantaphyllou. J. Nematol. 17:6,1990. (4) T. O. Power and T. S. Harris J. Nematol. 25:1,1993.

[The early therapeutic effect of low-dose clarithromycin for chronic nasosinusitis with nasal polyps].

Objective:To observe the early therapeutic effect of low-dose clarithromycin for chronic nasosinusitis with nasal polyps.Method:Clarithromycin was 250mg a day and budesonide nasal apray was once a day.Follow-up time was 12 weeks. The number of postoperative clarithromycin+budesonide nasal apray treatment group and simple budesonide nasal apray treatment group were forty. The early therapeutic effect of patients was assessed by SNOT-20 and EAS score before treatment,2 weeks,4 weeks,8 weeks,and 12 weeks.Result:Before treatment,at 2 weeks and 12 weeks,there was no significant difference between the two groups in the results of the SNOT-20 score. But there were significant differences at 4 weeks and 8 weeks.Before treatment and at 12 weeks, there was no statistically significant difference between the two groups in the results of the EAS score.But there were significant differences at 2 weeks,4 weeks,and 8 weeks.Conclusion:The early use of low-dose clarithromycin has a definite curative effect on patients of chronic rhinosinusitis with nasal polyps.The larger randomized controlled trials were still needed to verify the specific mechanism and optimal dosage.

[Clinical characteristics of patients with cervical vascular pseudoaneurysm after radiotherapy for nasopharyngeal carcinoma].

Objective:The aim of this study is to analyze the clinical features of the pseudoaneurysm of the cervical vascular in patients with nasopharyngeal carcinoma after radiotherapy, and to summarize the clinical signs of patients with cervical vascular aneurysm, and to provide a basis for improving the success rate of treatment. Method:Patients with hemorrhage disease were treated by digital subtraction angiography （DSA） after radiotherapy for nasopharyngeal carcinoma are included. According to the presence or absence of pseudoaneurysm （PSA）, patients are divided to pseudoaneurysm group （PSA group） and non-pseudoaneurysm group（non-PSA group）, analysis of gender, age, presence or absence of tumor recurrence, presence or absence of recurrent radiotherapy, history of nasopharyngeal surgery after radiotherapy, needed to open the airway before the interval therapy, time to the end of radiotherapy. Result:The rate of tumor recurrence was 80% （12/15） in patients with pseudoaneurysm and 60%（9/15） in recurrent radiotherapy, which was significantly higher than that in patients with non-pseudular aneurysms. The average time to the end of radiotherapy is 36.5 months in patients with pseudoaneurysm, significantly shorter than non-pseudoaneurysm patients（106.7 months）. Conclusion:The high-risk clinical features of patients with cervical vascular pseudoaneurysm include: ①recurrence of nasopharyngeal carcinoma; ②history of recurrent radiotherapy; ③interval time is shorter between the hemorrhage and the end of radiotherapy, usually taking place within a few months to two years after recurrent radiotherapy. Patients with the above characteristics need to be screened early, and the DSA should be used as early as possible to confirm the cervical vascular condition and effectively control the hemorrhage.

[Unilateral polyp originated from nasal septum: a case report].

Most polyps were originated from the contact areas of uncinate process, the middle turbinate or the ethmoid infundibulum. Polyp originated from nasal septum is extremely rare. We report a rare case of a 44-year old woman with unilateral polyp of nasal septum.

Transient receptor potential melastatin 4 cation channel in pediatric heart block.

OBJECTIVE: Progressive cardiac conduction disease (PCCD) is a common pediatric heart conduction disorder. It is an autosomal inheritance of rare mutations, which leads to familial cases of PCCD. In these cases, the His-Purkinje system's conductive capacity is progressively deranged, involving either right or left bundle branch block. Also, QRS complexes display widening is an important characteristic that culminates in complete AV block, syncope, and sudden death. Mutations in TRPM4 gene that encodes for transient receptor potential melastatin 4 have recently been reported to cause familial cases of PCCD and heart block. TRPM4 conducts a Ca2+-activated non-selective monovalent cationic current leading to a negative plasma membrane potential. TRPM4 channels let Na+ ion influx, causing membrane depolarization, whereas, at positive membrane potentials, TRPM4 channels repolarize the membrane by facilitating K+ ion efflux from the cell. TRPM4 protein contains many regulatory motifs that confer voltage dependence, ATP/ADP sensitivity, and Ca2+ responsiveness. Mutational studies revealed the significance of the two-calmodulin binding sites at the N-terminus of for Ca2+ dependent activation of this channel. Mutations that reduce deSUMOylation increase the steady-state levels of active TRPM4 channels on the membrane without alteration of its sensitivity to Ca2+ or ATP or its voltage dependence of activation. Increased TRPM4 function interferes with cardiac conduction and eventually contributes to heart block. Both gain and loss of function mutations of TRPM4 are implicated in the cardiac block. Currently, the major therapeutic management of cardiac block due to TRPM4 mutations is implantation of a pacemaker to reinstate normal current propagation through AV node.

[The value of plasma EBV-DNA testing in high-risk group of nasopharyngeal carcinoma in the nasal endoscopy].

Objective:The aim of this study is to evaluate the level of plasma EBV DNA and nasal endoscopy in high risk population of nasopharyngeal carcinoma, and to explore the value of EBV DNA testing in nasal endoscopy. Method:The nasopharyngeal carcinoma was screened in High-incidence Area of Zhongshan City. EBV antibody was detected by ELISA, and 427 patients with high risk of nasopharyngeal carcinoma were identified. In the high risk population the plasma EBV-DNA was measured using Fluorescent quantitative PCR, and all patients were used nasal endoscopy in the first two years. The application value of EBV DNA and nasopharyngeal endoscopic biopsy were analyzed. Result:There were 427 NPC high risk population in first screening. The rates of nasopharyngeal biopsy in EBV DNA positive and EBV DNA negative population were 90.2% (55/61) and 13.9% (51/366), respectively. The rate of NPC nasopharyngeal biopsy in EBV DNA positive population was higher than that in EBV DNA negative population (P<0.01). The rate of NPC detection in EBV DNA positive group (60.7%) was higher than that (3.3%) in EBV DNA negative population (P<0.01). In first year follow up, there were 286 NPC high risk population. The rates of nasopharyngeal biopsy in EBV DNA positive and EBV DNA negative population were 91.2% (31/34) and 11.9% (30/252), respectively. The rate of NPC nasopharyngeal biopsy in EBV DNA positive population was higher than that in EBV DNA negative population (P<0.01). The rate of NPC detection in EBV DNA positive group (17.6%) was higher than that (1.6%) in EBV DNA negative population (P<0.01). The positive predicative value of serological risk assessment was 8.3% (59/713), but for NPC high risk group, adding quantitative analysis of plasma EBV DNA, the positive predicative value was 45.3% (43/95). The early diagnosis rates in EBV DNA positive and EBV DNA negative population were 79.1% (34/43) and 93.8% (15/16), respectively. There was no significant difference in early diagnosis rates in two groups (P>0.05). Conclusion:The positive rate of plasma EBV DNA in high risk group of nasopharyngeal carcinoma may be helpful for nasal endoscopic nasopharyngeal biopsy, which can greatly improve the positive predictive value of high risk population of nasopharyngeal carcinoma. For NPC high risk population, Therefore, EBV DNA positive population are the focus for NPC screening.

Correlation between NFATC1 gene polymorphisms and congenital heart disease in children.

OBJECTIVE: To analyze the links between NFATC1 gene polymorphism and congenital heart disease in children. PATIENTS AND METHODS: In the present study, we selected 85 children patients with congenital heart disease who were hospitalized from February 2013 to February 2015 as research subjects (observation group), and 92 healthy subjects as control group. Restriction fragment length polymorphism (RFLP) was used for analysis of NFATC1 gene in samples from each group. RESULTS: The distribution of NFATC1 genotype and allele between the observation group (children with congenital heart disease) and the control group showed no significant difference (p >0.05), but AA, GG genotypes, and allele frequency between pathological samples of children with congenital heart disease and the control group displayed significant difference (p <0.05) (X2 = 16.04, p <0.05; X2 = 16.29, p <0.05). Further analyses showed that AA, GG, AG genotype and allele frequency among children with congenital heart disease in observation group also showed a difference, i.e., homozygote (AA, GG) ratio in children with severe congenital heart disease is relatively high. CONCLUSIONS: There is a correlation between NFATC1 genes and the incidence of congenital heart disease in children, and a correlation between different genotypes and allele frequency and the incidence of the disease.

Relevant researches on chronic viral myocarditis (CVMC) in children, complicated with arrhythmia and thyroid hormone level.

OBJECTIVE: To analyze the correlation between chronic viral myocarditis (CVMC) in children, complicated with arrhythmia and thyroid hormone level. PATIENTS AND METHODS: 60 patients with CVMC complicated with arrhythmia were continuously selected (course of disease > 3 months) and they are were diagnosed with arrhythmia by the routine 18-lead electrocardiogram and 24-hour Holter; the average follow-up time is about 2 years, during which the left ventricular end-diastolic diameter (LVEDd), left ventricular ejection fraction (LVEF), the occurrence rate of malignant arrhythmia events, immune state of T cell and thyroid hormone level (FT3, FT4, TSH, TGAb and TPOAb) were compared. RESULTS: Among the selected 60 patients, 18 patients (30.0%) who were suffering from malignant arrhythmia have been taken as the observation group. When compared with the control group, the standard deviation normal to normal intervals (SDNN), LVEF, CD4 and CD4/CD8 were reduced and LVEDd and CD8 were increased in the observation group; the difference has statistical significance (p < 0.05). When compared with the control group, FT3 and FT4 are significantly reduced and TSH, thyroglobulin antibody TGAB and thyroid peroxidase antibodies (TPOAb) are significantly increased; the difference has statistical significance (p < 0.05). According to the logistic regression analysis, we can conclude that: SDNN, FT3, FT4, TSH, TGAb and TPOAb are the independent risk factors of malignant arrhythmia (p < 0.05). CONCLUSIONS: Thyroid hormones and antibody level are helpful to the prognosis of malignant arrhythmia resulting from children chronic VMC complicated with arrhythmia complications.

Correlation analysis between GNAS2 gene polymorphisms in children with arrhythmia.

OBJECTIVE: The objective of the present study was to analyze the correlation between GNAS2 gene polymorphisms and children with arrhythmia. PATIENTS AND METHODS: We followed 89 children with arrhythmia treated in our hospital from April 2013 to April 2015, comprising the observation group, while 92 healthy subjects were taken as the control group. We analyzed polymorphisms of the GNAS2 gene from both groups by restriction fragment length polymorphism (RFLP). RESULTS: There were no significant differences (p>0.05) in GNAS2 genotype or allelic distribution between the observation group and control group. However, there were significant differences in the gene frequency of homozygotes (TT and GG) and alleles between the control group and samples from children with arrhythmia (p<0.05) (X2=16.57, p<0.05; X2=17.48, p<0.05). Further study of samples from both groups indicate that gene frequency of homozygous (TT and GG) or heterozygous (TG) genes and alleles also had differences, indicating that homozygotes (TT and GG) are in relatively high proportion among patients with severe cases of arrhythmia. CONCLUSIONS: Morbidity in patients with arrhythmia is related to GNAS2 gene polymorphisms. Differences in genotype and allele frequency are related to the severity of illness.

[Exploration of transoral robotic surgery in the treatment of pediatric obstructive sleep apnea-hypopnea syndrome].

Transoral robotic surgery (TORS) is a relatively new technique in the treatment of pediatric obstructive sleep apnea-hypopnea syndrome, which has been shown to be safe and feasible. TORS provides a minimally invasive, visualization method, which brings an unprecedented breakthrough in the treatment of pediatric obstructive sleep apnea-hypopnea syndrome. In this paper, the application and development prospect of TORS in the treatment of pediatric obstructive sleep apnea-hypopnea syndrome will be reviewed.

Observation of Kawasaki disease-related indexes and the study of relationship between myocardial enzyme changes and coronary artery lesions.

OBJECTIVE: To discuss the significance of Kawasaki disease-related laboratory indicators and relationship between myocardial enzyme changes and myocardial enzyme changes in children with Kawasaki disease. PATIENTS AND METHODS: Make an observation of C-reactive proteins and immune globulin changes in children with Kawasaki disease, and also a comparison about the myocardial enzyme changes between the children with myocardial enzyme changes and others without lesions. RESULTS: Compare the study group before treatment with the control group of normal children, there are significant differences in the levels of CRP, IgG, and IgM, and the difference was statistically significant (p < 0.05); make a comparison about the levels of AST, LDH, CK, HB-DH, and CK-MB in the group with or without coronary artery lesions, the difference was not statistically significant (p > 0.05). CONCLUSIONS: Relevant laboratory indices play an important role in the early diagnosis of Kawasaki disease. Myocardial injury and coronary artery lesions in children with Kawasaki disease have no correlation between each other, and there has an inconsistency characteristic.

Very long-chain acyl-CoA dehydrogenase deficiency presenting as acute hypercapnic respiratory failure.

Very long-chain acyl-CoA dehydrogenase deficiency (VLCAD) is a key enzyme catalysing the dehydrogenation of long-chain fatty acids in mitochondrial beta-oxidation. VLCAD deficiency is a genetic disorder that commonly presents in infancy or childhood with episodes of hypoketotic hypoglycaemia, cardiomyopathy and liver dysfunction. The present study reports an 18-yr-old Chinese female who presented with acute hypercapnic respiratory failure and rhabdomyolysis after a period of prolonged fasting and exertion. VLCAD deficiency was confirmed with decreased VLCAD activity in cultured fibroblasts. The patient completely recovered with supportive care. Pulmonary function tests after the acute episode showed evidence of chronic subclinical respiratory muscle weakness. In conclusion, this rare metabolic disorder should be considered in patients presenting with unexplained acute respiratory paralysis and failure.