Lynch syndrome is the most common type of genetically determined colon-cancer predisposition syndrome, accounting for 5%of all colorectal cancer (CRC) cases. This hereditary syndrome is characterized by the germline mutation of human mismatch repair genes and microsatellite instability. Recent studies have shown that Lynch syndrome and sporadic CRC differ in diagnosis and treat-ment;these results are especially relevant for the clinical management of Lynch syndrome. In this review, we reverted to the original characterization of Lynch syndrome, and the developments in its screening and diagnosis were summarized. Furthermore, the manage-ment of families with this disorder was discussed.

Objective To observe the effect of inhaled glucocorticoids combined with theophylline in smoking patients with bronchial asthma.Methods Seventy-three patients with bronchial asthma were enrolled in this study and they were divided into observation group (34 cases,smoker) and control group(39 cases,no-smoker).They all accepted inhalation of budesonide 200 μ g/suck,bis in die,plus aminophylline tablet (0.1 g,ter in die,per os) for 3 months.After treatment for 3 months,the basal control rate was compared between two groups.The levels of asthma control test (ACT) score,peak expiratory flow (PEF),the first second forced expiratory volume accounted for the percentage of prediction (FEV1％pred),eosinophil leukocyte (EOS) count and immunoglobulin E(IgE) in two groups before and after treatment for 3 months were compared too.Results After treatment for 3 months,the basal control rate in observation group was 88.24％ (30/34),in control group was 92.31％(36/39),and there was no significant difference(P＞ 0.05).After treatment for 3 months,the levels of ACT score,PEF and FEV1％pred in two groups were increased and the levels of EOS count and IgE were decreased than those before treatment,and there were significant difference (P ＜0.05).After treatment for 3 months,the levels of ACT score,PEF,FEV1％ pred,EOS count and IgE in observation group were (22.43 ± 2.64) scores,(292.52 ± 98.64) L/min,(74.87 ± 4.83)％,(270 ± 180) × 106/L,(68.25 ± 13.89) U/L,in control group were(22.81 ± 2.27) scores,(300.34 ± 100.45) L/min,(75.26 ± 5.04)％,(210 ± 170) × 106/L,(65.47 ± 11.28) U/L,and there were no significant differences (P ＞ 0.05).Conclusions Low dose inhaled glucocorticoids combined with theophylline in treatment smoking and non-smoking asthmatics patients are equal.It can improve asthma symptoms and lung function,improve hormone sensitive and reduce airway inflammation.

Objective To explore the relationship between plasma interleukin-11(sIL-11) level and platelet count post-chemotherapy with hematological malignancy patients and analyse a sIL-11 level which may maintain a safe platelet count so as to guide the treatment. Methods Blood samples were collected from the patients with hematological malignancy at certain time point of pre-and post-chemotherapy, and serum level of sIL-11 and platelet count were determined separately. Different statistical methods were applied to test the relationship between sIL-11 level and platelet changes. Results 99 cases finished this study. The findings are: the sIL-11 level went up and reached the peak on day 6 post-chemotherapy, while the platelet count kept dropping to the lowest on day 10, the sIL-11 peak occurred before the lowest platelet count, patients with faster sIL-11 increase may maintain a comparatively higher plateled count. 99 eases were grouped according to the lowest platelet count and compared: the group with higher platelet count tend to have higher peak sIL-11, more cases with higher peak sIL-11, with faster daily average sIL-11 increase, the lowest platelet count occurred later. Logistic regression analysis showed the factors contributed to lower platelet includes slower daily average sIL-11 increase and sIL-11 level less than 2000 pg/ml on Day4 post-chemotherapy. Conclusion There were correlation between the serum sIL-11 level and platelet counts, the platelet count change may be predicted by determining the plasma sIL-11 level post-chemotherapy. Patients with sIL-11 level less than 2000 pg/ml on Day4 post-chemotherapy may be endangered with severe thrombocytopenia, rhIL-11 or platelet transfusion treatment should be considered.

Objective: To investigate the resistance to rifampicin and isoniazid and the changing trends among patients with pulmonary tuberculosis in Luohu District, Shenzhen City, Guangdong Province from 2012 to 2022, so as to provide insights into improving drug-resistant pulmonary tuberculosis control and prevention strategies. Methods: Basic information, treatment classification and drug resistance data of patients with pulmonary tuberculosis and positive pathogenic detection in Luohu District from 2012 to 2022 were collected through the Tuberculosis Surveillance System of Chinese Disease Prevention and Control Information System, and resistance rates of rifampicin and isoniazid and the changing trends were analyzed. Results: A total of 2 126 patients with pulmonary tuberculosis were collected and had a median age of 34 (interquartile range, 25) years, including 1 334 males (62.75%) and 792 females (37.25%). There were 302 patients with drug-resistance in Luohu District from 2012 to 2022, with a resistance rate of 14.21%. Among them, 60 patients were monoresistant to rifampicin (2.82%), 113 patients were monoresistant to isoniazid (5.32%), and 129 patients were multidrug resistant (6.07%). The rate of rifampicin monoresistance showed a downward trend from 2012 to 2022, while the rate of multidrug resistance showed an upward trend (both P<0.05). There was no significant tendency in the rate of isoniazid monoresistance (P>0.05). The rate of multidrug resistance among patients without Shenzhen residence was higher than that among patients with Shenzhen residence; the rates of rifampicin resistance and multidrug resistance among retreated patients were higher than those among treatment-naïve patients (all P<0.05). Conclusions The rate of rifampicin monoresistance appeared a downward trend and the rate of multidrug resistance appeared an upward trend among patients with pulmonary tuberculosis in Luohu District from 2012 to 2022. Attention should be given to non-Shenzhen residence and retreated patients.

This paper is a follow-up study of 329 children in factory-run nurseries in urban Shanghai. The investigation lasted for a period of one year for each index-child, focusing on the conditions of nutrition, development and diseases of the children of various ages.Comparison between nutritionl findings and RDA of China disclosed that calorie intake of most of the index-child groups were 80-85% of RDA, the only exception being the 6-12 months group where the average calorie intake showed 90%. Protein intake of all groups was over 80% of RDA. Fe intake was lower than RDA, except for 18-month-old and over.Weight and height of the children were compared with the anthropo-metric data established in 1985 (1985 data) for Shanghai children under six years of age. It was found that the average weight and height appeared differently according to their age. Average weight of children under one year old was slightly higher than 1985 data, while average height was lower than 1985 data once the children reached 10 months old. Average weight, however, became lower than the 1985 data after the children were two years old. Over 60% of the index between 6-18 months old suffered from anemia (IDA).Accordingly, it is requested that calorie and iron intake should be supplemented.

Objective: To improve the diagnosis and therapy of childhood pulmonary thromboembolism (PTE) by analyzing the clinical features of this rare condition. Methods: A total of 8 pediatric patients (4 males, 4 females) with PTE diagnosed in the Children′s Hospital of Zhejiang University School of Medicine from March, 2014 to March, 2019 were enrolled. The clinical manifestation, laboratory results, imaging findings, diagnosis and treatment were summarized. Results: Among these 8 cases, aged from 9 hours to 14 years and 10 months. Fever was found in 4 cases, cough aggravation in 4, short of breath in 3, chest pain in 2, abdominal and back pain in one, hemoptysis in 2, cyanosis in 1, and edema of lower extremities in 2. Physical examination found decreased breath sound in 2 cases, phlegm rale in 3, and pleural friction rub in one. Pleural effusion was found in 5 cases by ultrasound. Plasma D-dimer increased in 6 cases (0.66-9.96 mg/L) and hypersensitive C-reactive protein elevated in 5 cases (10.78-78.00 mg/L). Chest enhanced CT showed pulmonary artery or venous filling defects, including pulmonary artery embolism in 7 cases and pulmonary vein embolism in one. The primary disease of these patients included Mycoplasma Pneumoniae pneumonia in 4 cases, nephritis in 2 and postoperative congenital heart disease in 2. Apart from one case who withdrew the treatment and was discharged, the other 7 patients received anticoagulant treatment had good outcome. Conclusions For children with Mycoplasma pneumoniae pneumonia, immune disorders, long-term hormone therapy, cardiovascular invasive operation or other high-risk factors, PTE should be considered when fever, cough aggravation, short of breath, chest and back pain with pleural effusion are present. Chest enhanced CT scan should be performed as soon as possible, and anticoagulation should be started once the diagnosis is confirmed.

Vitamins are classified as either fat-soluble (vitamins A, D, E, K) or water-soluble (vitamins B and vitamin C). Traditional methods of immunoassay have only been developed for vitamins D,B6, B9 and B12. However, they cannot distinguish between vitamin subtypes such as D2, D3 and associated epi isomers (which has higher leveks in infants),giving false positive or negative results. Mass spectrometry has become a gold standard method for small molecule analysis in biological samples with its advantages in speed,resolution,sensitivity and specificity. It is widely used in clinical research and diagnosis and provides an efficient method for simultaneous detection of multivitamins in one injection using one low volume sample collection.

Objective:To investigate the changes and to establish a reference interval of bile acid profile of healthy pregnant women in the second and third trimesters of pregnancy in our hospital.Methods:A total of 298 healthy singleton pregnant women who underwent prenatal examination in the Department of Obstetrics of Zhejiang Provincial People′s Hospital from July 2019 to August 2020 were enrolled in this study. The overnight fasting serum samples were collected from all subjects during their second and third trimesters of pregnancy. The concentrations of 15 bile acids(cholic acid, chenodeoxycholic acid, deoxycholic acid, ursodeoxycholic acid, lithocholic acid and their glycine-and taurine-conjugated types)were analyzed by liquid chromatography tandem mass spectrometry (LC-MS/MS). The characteristics of changes were analyzed and the reference intervals were determined for the second and third trimesters. The concentrations of 15 bile acids and total bile acids were skewed-distributed, and 99 percentiles (P 99) were used to represent the unilateral upper limit of the reference interval. Results:There was significant difference in the serum levels of glycine cholic acid (GCA), taurocholic acid (TCA), glycine ursodeoxycholic acid (GUDCA) and lithocholic acid (LCA) between the second and third trimesters healthy pregnant females ( P<0.05). For other 11 bile acids, there was no significant difference. The levels of total bile acids, primary or secondary bile acids, free or conjugated bile acids (glycine-bound and taurine-bound bile acids) were stable with gestation. Conclusion:Primary, secondary or free, and conjugated bile acids in healthy pregnant women remained stable at T 2 and T 3, with significant differences in only a few subtypes of bile acids. While the correlation between glycine-bound and taurine-bound bile acids showed a weakening trend at T 3 ( P<0.05). It is necessary to establish reference intervals of bile acids for healthy pregnant women in this area. This study provided data support for future research on related diseases during pregnancy.

Objective:To investigate the relationship between triglyceride glucos (TyG), C-reaction protein/albumin (CRP/Alb), 25-hydroxy vitamin D[25(OH)D] and the prognosis of patients with continous ambulatory peritoneal dialysis (CAPD).Methods:A total of 220 CAPD patients in the Affiliated Hospital of Jining Medical University from January 2017 to March 2020 were prospectively selected and divided into death group and survival group according to the 6-month prognosis. The peritoneal urea clearance index (Kt/V urea), TyG, CRP/Alb, 25(OH)D were compared between the two groups. Logistic regression was used to analyze the prognostic factors of CAPD patients. The predictive value of TyG, CRP/Alb and 25(OH)D on the prognosis of CAPD patients was analyzed by receiver operating characteristic (ROC) curve. Results:After 3 months and 6 months of dialysis, the peritoneal Kt/V urea in the death group [(1.21±0.18)ml/(s·1.73 m 2), (1.02±0.14)ml/(s·1.73 m 2)] was significantly lower than that in the survival group [(1.57±0.40)ml/(s·1.73 m 2), (1.49±0.42)ml/(s·1.73 m 2)] (all P<0.05). After 3 months and 6 months of dialysis, the TyG [(8.79±0.86), (9.24±1.03)] and CRP/Alb [(4.98±0.94)×10 -4, (5.14±1.39)×10 -4] in the death group were higher than those in the survival group [(8.03±0.60), (7.26±0.93), (3.57±1.19)×10 -4, (3.07±0.88)×10 -4], while the 25(OH)D [(19.14±2.29)ng/ml, (17.79±3.17)ng/ml] was lower than that of survival group [(22.67±3.03)ng/ml, (24.31±2.51)ng/ml] (all P<0.05). TyG and CRP/Alb at 3 months and 6 months of dialysis were negatively correlated with Kt/V urea, while the 25(OH)D was positively correlated with Kt/V urea (all P<0.05). Logistic regression analysis showed that Kt/Vurea, TyG, CRP/Alb and 25(OH)D were associated with prognosis in the two groups after 3 and 6 months of dialysis (all P<0.05). The AUC of TyG, CRP/Alb and 25(OH)D at 6 months of dialysis combined to predict the prognosis of CAPD patients was the highest, which was 0.911. Conclusions:TyG, CRP/Alb and 25(OH)D are associated with all-cause mortality in CAPD patients. High TyG and CRP/Alb and low 25(OH)D suggest a higher risk of all-cause mortality. Combined detection of all indicators can effectively predict the prognosis of CAPD, which is convenient for early clinical intervention.