Abstract: Objective　To report the clinical characteristics and genetic test results of two children with neurofibromatosis type 1 (NF1), and to provide reference for the comprehensive diagnosis-treatment and follow-up plans of NF1 patients based on the existing diagnosis and treatment progress of NF1. Methods　Two children with NF1 admitted to the Department of Children's Medicine, Haikou people's Hospital in May and June 2022 were selected to analyze the clinical data of their clinical manifestations, laboratory examination, genetic test results, diagnosis and treatment and follow-up retrospectively. Results　Two children had typical clinical manifestations, such as café-au-lait spots, axillary freckles, intraocular iris hamartoma. Venous blood was collected from case 1 and his parents for NF gene test, and a new mutation of c.4084C>T in the NF1 gene was found, and their parents did not have the pathogenic gene; the venous blood of the children in case 2 was tested for whole-exome gene analysis, and a heterozygous nonsense variant c.910C>T:p.R304 on the NF1 gene was found, , which was verified by Sanger sequencing to be inherited from his mother, his mother has café-au-lait spots and brain glioma, and has undergone surgery to remove the brain glioma, but has not undergone chemoradiotherapy or targeted therapy. No neurological malignancies were detected in either of the two children at follow-up until July 2022. Conclusions　The clinical manifestations of NF1 are relatively typical, genetic testing is conducive to determine its classification, and regular follow-up review can help to detect and treat malignant tumors early, thus improving the patient's quality of life.

Recent years,progress has been made on the basic researches and clinical applications of ocular surface reconstruction with autologous or allogeneic limbal stem cells,oral mucosa epithelium and ex vivo cultured limbal stem cells.However,there are several issues,including the successful treatment for severe ocular damage,longterm follow-up and evaluation of clinical outcome,and the in vivo tracking of donor stem cells,remained to have definitive conclusions.Future studies should address the questions and challenges based on the basic research of limbal stem cell deficiency and standardized evaluation of clinical outcome.

Objective To investigate the application of quality control cycle activity in reducing thedisquali-fication rate of bowel preparation for colonoscopy outpatients.Methods Set up a group of quality control circle,and select the issues that reducing the disqualification rate of bowel preparation for colonoscopy outpatients as the activity theme.According to the activity steps of quality control circle,the activity was carried out.The causes of disqualifica-tion rate of bowel preparation were analyzed and the countermeasures to improve and implement were implemented. Also,the disqualification rates of bowel preparation before and after quality control circle were compared.Results The disqualification rate of bowel preparation was reduced from 39.09% to 14.03% after quality control circle activi-ty.The difference was statistically significant(χ2 =53.65,P <0.01).Target success rate was 104.42%,and the pro-gress rate was 64.11%.Conclusion The quality control circle activity can effectively reduce the disqualification rate of bowel preparation for colonoscopy outpatients,thereby improve the quality of diagnosis and treatment,and reduce the economic burden of patients.After clear improvement of focus,the leading causes of disqualification bowel prepa-ration are obtained through characteristic diagram (figure 2)analysis.Also,true causes are validated based on the three principles.The four true causes final defined include short contact time nurses and patients,large liquid dosage, none nursing intervention outside hospital,and chronic constipation without intervention.

Erythromelalgia ; complications ; Female ; Humans ; Mercury Poisoning ; complications ; Middle Aged

A study was performed to validate 3 FMDV 3ABC-I-ELISA kits developed in China for the differentiation of FMDV infected and vaccinated animals.Sets of sera from naive and vaccinated cattle as well as from cattle that had been infected were tested for antibodies against nonstructural proteins (NSPs) of FMDV by commercial diagnosis kits,Ceditest(R)FMDV-NS (Ceditest(R) kit),UBI(R) FMDV NONSTRUCTURAL PROTEIN ELISA DIRECTION INSERT (UBI(R) kit) and a FMDV 3ABC-I-ELISA kitdeveloped at the Lanzhou Veterinary Research Institute.The test parameters (sensitivity and specificity) of the three kits were determined,and the result obtained from FMD 3ABC-I-ELISA kit was compared with that obtained from two foreign kits.The results indicated that the coincidence rate between the FMDV 3ABC-I-ELISA and Ceditest(R) kits was 98.05%,and the coincidence rate between the FMDV 3ABC-I-ELISA and UBI(R) kits was 94.4%; the sensitivity of both Ceditest(R) and FMDV 3ABC-I-ELISA kit was 100%.However,the sensitivity of the UBI(R) kit was only 81.8%.With sera from naive or vaccinated non-infected animals,the specificity of all tests exceeded 90%.

The clinical analgesic effect of electro-acupuncture (EA) stimulation (EAS) on breakthrough pain induced by remifentanil in patients undergoing radical thoracic esophagectomy, and the mechanisms were assessed. Sixty patients (ASAIII) scheduled for elective radical esophagectomy were randomized into three groups: group A (control) receiving a general anesthesia only; group B (sham) given EA needles at PC4 (Ximen) and PC6 (Neiguan) but no stimulation; and group C (EAS) electrically given EAS of the ipsilateral PC4 and PC6 throughout the surgery. The EAS consisting of a disperse-dense wave with a low frequency of 2 Hz and a high frequency of 20 Hz, was performed 30 min prior to induction of general anesthesia and continued through the surgery. At the emergence, sufentanil infusion was given for postoperative analgesia with loading dose of 7.5 μg, followed by a continuous infusion of 2.25 μg/h. The patient self-administration of sufentanil was 0.75 μg with a lockout of 15 min as needed. Additional breakthrough pain was treated with dezocine (5 mg) intravenously at the patient's request. Blood samples were collected before (T1), 2 h (T2), 24 h (T3), and 48 h (T4) after operation to measure the plasma β-EP, PGE2, and 5-HT. The operative time, the total dose of sufentanil and the dose of self-administration, and the rescue doses of dezocine were recorded. Visual Analogue Scale (VAS) scores at 2, 12, 24 and 48 h postoperatively and the incidence of apnea and severe hypotension were recorded. The results showed that the gender, age, weight, operative time and remifentanil consumption were comparable among 3 groups. Patients in EAS group had the lowest VAS scores postoperatively among the three groups (P<0.05). The total dose of sufentanil was 115±6.0 μg in EAS group, significantly lower than that in control (134.3±5.9 μg) and sham (133.5±7.0 μg) groups. Similarly, the rescue dose of dezocine was the least in EAS group (P<0.05) among the three groups. Plasma β-EP levels in EAS group at T3 (176.90±45.73) and T4 (162.96±35.00 pg/mL) were significantly higher than those in control (132.33±36.75 and 128.79±41.24 pg/mL) and sham (136.56±45.80 and 129.85±36.14 pg/mL) groups, P<0.05 for all. EAS could decrease the release of PGE2. Plasma PGE2 levels in EAS group at T2 and T3 (41±5 and 40±5 pg/mL respectively) were significantly lower than those in control (64±5 and 62±7 pg/mL) and sham (66±6 and 62±6 pg/mL) groups. Plasma 5-HT levels in EAS group at T2 (133.66±40.85) and T3 (154.66±52.49 ng/mL) were significantly lower than those in control (168.33±56.94 and 225.28±82.03) and sham (164.54±47.53 and 217.74±76.45 ng/mL) groups. For intra-group comparison, plasma 5-HT and PGE2 levels in control and sham groups at T2 and T3, and β-EP in EAS group at T3 and T4 were significantly higher than those at T1 (P<0.05); PGE2 and 5-HT levels in EAS group showed no significant difference among the different time points (P>0.05). No apnea or severe hypotension was observed in any group. It was concluded that intraoperative ipsilateral EAS at PC4 and PC6 provides effective postoperative analgesia for patients undergoing radical esophagectomy with remifentanil anesthesia and significantly decrease requirement for parental narcotics. The underlying mechanism may be related to stimulation of the release of endogenous β-EP and inhibition of inflammatory mediators (5-HT and PGE2).

ObjectiveTo explore the relationship among 25-hydroxyvitamin D,serum calcium,calcium-sensing receptor,and breast cancer. Methods The expressions of calcium-sensing receptor (CaSR) in primary breast cancer,breast benign tumors,and normal breast tissue beside tumors were determined by immunohistochemistry S-P method as well as the concentration of serum 25 (OH) D and serum calcium in breast cancer and breast benign tumors by Enzyme-linked immunosorbent assay (ELISA),Tribromoarsenazo Ⅲ method.ResultsSerum 25 (OH) D level of breast cancer was significantly lower than the breast benign tumors [ (34.13 ± 14.14) nmol/L vs (50.29 ± 25.65 ) nmol/L,t =2.870,P =0.001 ].Serum level of 25 ( OH ) D in lymph node metastasis positive patient was lower than that in negative group [ (30.8 ± 9.71 ) nmol/L vs (43.7 ± 23.59) nmol/L,t =2.467,P =0.021 ].The positive expression of CaSR in breast cancer(88.9％ )was higher than breast benign tumors(60％,x2 =6.717,P ＜ 0.01 ) and normal breast tissue beside tumors (60％,x2 =5.628,P ＜ 0.05 ).ConclusionsConcentration of serum 25 (OH)D and expression of calcium-sensing receptor in the tissues may be associated with occurrence,development and prognosis of breast cancer.

Objective To evaluate the right ventricular global systolic function by real-time three dimensional echocardiography (RT-3DE) and two dimensional echocardiography (2DE) in normal children,and investigate their correlation with age,height,weight,body surface area (BSA) and cardiac cycle time.Methods In 192 normal children,2DE right ventricular systolic function indexes were obtained at the apical four chamber view,including:tricuspid annular lateral wall peak systolic excursion (TAPSE),tricuspid annular peak systolic velocity (TRV) and right ventricular systolic area shortening (RVa).Full volume imaging of right ventricle was obtained at the parasternal four-chamber view near the apex by RT-3DE.The right ventricular ejection fraction (RVEF) was analyzed by TomTec RV-Function.The correlation analysis was performed between RT-3DE and 2DE indexes.The correlation and regression analysis on RT-3DE and 2DE indexes with above physical development indexes were also studied.At the same time 192 normal children were divided into five groups by age.2DE and RT-3DE indexes were compared with each other among five age groups.Results RVEF had no statistical correlation with all 2DE indexes (P ＞0.05).The correlation analysis on RT-3DE and 2DE indexes with physical development indexes demonstrated that TAPSE,TRV had strong positive correlation with the above indexes (P =0.000),while RVa had no statistical correlation with the above indexes (P ＞0.05).RVEF had weak positive correlation with cardiac cycle time r =0.180,P =0.014),but it had no statistical correlation with the other indexes (P ＞0.05).Stepwise regression analysis showed that the significant factor for TAPSE and TRV was height (R2 =0.508,P =0.000)and BSA (R2 =0.130,P =0.000)separately.In five age groups RVEF and RVa remained constant (P ＞0.05).However for TAPSE and TRV significant difference were found in part of comparisons between groups(P ＜0.05).Conclusions Although RVEF assessed by RT-3DE was slightly influenced by heart rate,it was independent of age,height,weight,BSA.It was a stable index for evaluating right ventricular systolic function among different age and physical development population.

Objective To evaluate right ventricular(RV) global and regional volume and systolic function by real-time three-dimensional echocardiography (RT-3DE) in normal children with different age.Methods One hundred and ninty-two normal children were divided into five groups by age:group Ⅰ,＜1 years old,32 cases;group Ⅱ,≥1 years old-＜3 years old,46 cases;group Ⅲ,≥3 years old-＜6 years old,36 cases;group Ⅳ,≥6 years old-＜9 years old,41 cases;group Ⅴ,≥9 years old-＜14 years old,37 cases.Full volume imaging of RV was obtained at the parasternal four-chamber view near the apex by RT-3DE.RT-3DE data set were analyzed off-line by TomTec RV-Function.RV were divided into three parts:inflow,body,outflow.The measurements were including RV global and regional end-diastolic volume (EDV),end-systolic volume (ESV),ejection fraction (EF) and the ratio of regional parts EDV to RVEDV. The volume and systolic function were compared in three regional parts.RV global and regional parts EF and the ratio of regional parts EDV to RVEDV were also compared in five age groups.Correlation analysis and curve estimation were studied on RV global and regional EDV with age and physical development indexes.Results In the comparison of three regional parts:inflow EDV and EF were higher than outflow and body parts (P＜0.05).No significant different was found between outflow EDV and body EDV (P＞0.05),however,outflow EF was significant higher than body EF(P＜0.05).The comparison of RV global and regional EF in five age groups were no statistical different (P＞0.12). The ratio of regional parts EDV to RVEDV remained constant in five age groups(P＞0.58).Correlation analysis showed the global and regional RV volume were strongly correlated with age,height,weight and BSA (r＞0.77,P=0.000).The best correlation was found with BSA (r＞0.83,P=0.000).Curve estimation demonstrated that the relationship of RV global and regional EDV with age and physical development indexes could be best expressed by power model,the best matched model were found with BSA.Conclusions Among three regional parts of RV,inflow and outflow parts volume contraction were the two main contribution factors for RV function.In childhood RV volume didn't increase linearly with age and physical development indexes,but in an exponential model.

One hundred and fifty two actinomycetes were isolated from forty two radiation-polluted soil samples,using six different isolation media. Sixty cultures were chosen for 16S rRNA gene sequence and systematic analysis,which based on their morphology and ARDRA. Results of 16S rRNA gene sequences blasting showed that the strains were assigned to 12 recognized genera of actinomycetes,most of them fall within Streptomyces genus and a great deal of strains belonged to rare actinomycetes,which indicated a rich diversity of actinomycetes in the radiation-polluted soil.