Timely utilization of transthoracic echocardiography can improve clinical outcomes after acute kidney injury in intensive care unit patients / 中华肾脏病杂志

Objective:To investigate the effect of usage of transthoracic echocardiography(TTE) on the prognosis of patients after acute kidney injury (AKI) in intensive care unit (ICU).Methods:The clinical data of patients with AKI in the Medical Information Mart for Intensive Care (MIMIC-Ⅲ v1.4) database was collected retrospectively, and the patients were divided into TTE group (with TTE within 24 hours of AKI diagnosis) and No-TTE group (without TTE examination or first TTE examination was more than 24 hours after AKI diagnosis). Propensity score matching (PSM) was utilized to balance the baseline variables between the two groups and Cox regression analysis was used to evaluate the independent risk factors for 28-day all-cause mortality (the primary outcome). Moreover, after PSM, the effects of TTE usage on the second outcomes (including the volumes of intravenous fluid and urine output in the first, second and third 24-hour after the diagnosis of AKI; the total number of mechanical ventilation-free days, renal replacement therapy-free days and vasopressor-free days within 28 days after ICU admission; use of diuretics after the diagnosis of AKI; reduction in serum creatinine within 48 hours after the diagnosis of AKI; and the length of ICU stay and hospital stay) were also evaluated.Results:Among 23 945 eligible AKI patients, 3 365 patients (14.1%) patients received TTE within 24 hours after the diagnosis of AKI and finally there were 3 361 patients in TTE group and No-TTE group included in this study after PSM based on the ratio of 1∶1. After PSM, all variables in the two groups were well balanced (standardized mean difference<0.1, respectively). Before and after PSM, patients in TTE group had lower 28-day all-cause mortality compared with patients in No-TTE group (10.76% vs 13.04%, χ2=13.535, P<0.001; 10.65% vs 18.80%, χ2=88.932, P<0.001), and Kaplan-Meier survival curves also revealed that patients in the TTE group had higher cumulative survival rate compared with patients in No-TTE group (Log-rank χ2=15.438, P<0.001; Log-rank χ2=75.360, P<0.001, respectively). Multivariate Cox regression analysis showed that TTE was an independent influencing factor for 28-day all-cause mortality before and after PSM ( HR=0.80, 95% CI 0.73-0.89, P<0.001; HR=0.58, 95% CI 0.51-0.65, P<0.001). And all subgroup analyses showed the similar results. Compared with patients in the No-TTE group, patients in the TTE group had higher volume of intravenous fluid on the first day and the second day after the diagnosis of AKI (both P<0.01). Patients in the TTE group had higher volume of urine output on the first day and the third day after the diagnosis of AKI (both P<0.01). The patients in the TTE group had a significantly lower duration of vasopressor-free and mechanical ventilation-free (both P<0.01). The usage of diuretic was significantly higher in the TTE group compared with that in the No-TTE group (54.1% vs 44.2%, χ2=65.609, P<0.001). With respect to serum creatinine, the reduction in serum creatinine within 48 hours after the diagnosis of AKI was higher in the TTE group than that in the No-TTE group [36.6(23.0, 97.2) μmol/L vs 30.1(14.2, 61.9) μmol/L, Z=-9.549, P<0.001]. Moreover, TTE group had shorter ICU stay than that in the No-TTE group [5.03(3.40, 8.90) d vs 5.37(3.77, 10.00) d, Z=-6.589, P<0.001]. There were no significant difference between the two groups in other secondary outcomes (all P>0.05). Conclusions:Timely TTE utilization after AKI incident is associated with better clinical outcomes for ICU patients.

Xuebijing injection improve pulmonary vascular barrier function in ARDS by up-regulating claudin-5 expression through PI3K/Akt/FOXO1 signaling pathway / 中华危重病急救医学

Objective:To study the signaling pathway of the up-regulation of claudin-5 expression by Xuebijing injection.Methods:Animal and cell models of acute respiratory distress syndrome (ARDS) were induced by lipopolysaccharide (LPS). ① In vivo study, 20 male Sprague-Dawley (SD) rats were randomly divided into 4 groups: control group, LPS group (LPS injection 10 mg/kg for 12 hours), Xuebijing control group (Xuebijing injection 1 mg/kg, twice a day, for 3 days), and Xuebijing intervention group (LPS injection after pretreatment of Xuebijing injection), according to random number method with 5 rats in each group. The lung tissues were taken to detect lung dry/wet weight ratio (W/D) and the morphological changes in each group. Claudin-5, phosphorylated forkhead box transcription factor O1 (p-FOXO1), total FOXO1 (t-FOXO1), phosphorylated Akt (p-Akt) and total Akt (t-Akt) in lung tissues were detected by immunohistochemical staining (IHC) and Western blotting. ② In vitro study, human pulmonary microvascular endothelial cells (HPMECs) were divided into 6 groups (5 holes in each group): control group, Xubijing control group (incubated with 2 g/L Xubijing for 24 hours), phosphoinositide 3-kinases (PI3K) signaling pathway LY294002 control group (incubated with 10 μmol/L LY294002 for 1 hour), LPS group (incubated with 1 mg/L LPS for 12 hours), Xubijing intervention group (incubated with 2 g/L Xuebijing for 24 hours, then with 1 mg/L LPS for 12 hours) and LY294002 intervention group (incubated with 10 μmol/L LY294002 for 1 hour, then with 2 g/L and Xubijing for 24 hours, and then with 1 mg/L LPS for 12 hours). The expression levels of claudin-5, p-FOXO1, t-FOXO1, p-Akt and t-Akt of HPMECs in each group were assessed by Western blotting. Results:In vivo study: ① Compared with the control group, the lung W/D ratio increased significantly in LPS group (6.79±0.42 vs. 4.19±0.13), and decreased significantly after the intervention of Xuebijing (4.92±0.38 vs. 6.79±0.42, P < 0.01). ② Morphological changes of lung tissue: compared with the control group, the injury of lung tissue in LPS group was more serious, which was significantly improved after Xuebijing intervention. ③ Expression levels of claudin-5, p-Akt/t-Akt and p-FOXO1/t-FOXO1: the expression levels of claudin-5, p-Akt/t-Akt and p-FOXO1/t-FOXO1 in LPS group were significantly decreased as compared with the control group (claudin-5/GAPDH: 0.33±0.03 vs. 1.03±0.07, p-Akt/t-Akt: 0.18±0.02 vs. 1.01±0.13, p-FOXO1/t-FOXO1: 0.16±0.06 vs. 1.00±0.19, all P < 0.01). After the intervention of Xuebijing, the expression levels were significantly increased as compared with the LPS group (claudin-5/GAPDH: 0.53±0.05 vs. 0.33±0.03, p-Akt/t-Akt: 0.56±0.12 vs. 0.18±0.02, p-FOXO1/t-FOXO1: 0.68±0.10 vs. 0.16±0.06, all P < 0.01). In vitro study: compared with the control group, the expression level of claudin-5 in the LPS group was significantly decreased (claudin-5/β-actin: 0.45±0.03 vs. 1.01±0.15, P < 0.01), and the expression level of claudin-5 in Xuebijing intervention group was also significantly decreased (claudin-5/β-actin: 0.80±0.08 vs. 1.01±0.15, P < 0.01). After the intervention of LY294002, the expression of claudin-5 was significantly decreased as compared with the Xubijing intervention group (claudin-5/β-actin: 0.41±0.02 vs. 0.80±0.08, P < 0.01). Conclusion:Xuebijing injection improve pulmonary vascular barrier function in rats with ARDS by up-regulating claudin-5 expression through PI3K/Akt/FOXO1 signaling pathway.

Xuebijing Injection Ameliorates H / 中国结合医学杂志

OBJECTIVE@#To investigate the protective effects and underlying mechanisms of Xuebijing Injection (XBJ) on the lung endothelial barrier in hydrogen sulfide (H@*METHODS@#Sprague-Dawley rats were exposed to H@*RESULTS@#The morphological investigation showed that XBJ attenuated H@*CONCLUSIONS@#XBJ ameliorated H

Research progress of vacuum extraction and its combined technologies in volatile oil from traditional Chinese medicine / 中草药

With the expansion of the application field of traditional Chinese medicine volatile oil, the research on novel extraction technology and method is increasing. Vacuum hydrodistillation extraction, a new extraction process, reduces the boiling point of the solvent by adjusting the vacuum degree. Therefore, it can keep the solvent boiling at low temperature, so that the volatile oil components are not easily destroyed. This paper has reviewed the principle, advantages and disadvantages, application status of vacuum technology in the field of traditional Chinese medicine volatile oil and the application of vacuum combined technologies including instant controlled pressure drop, ultrasonic combined vacuum extraction, microwave combined vacuum extraction and supercritical CO2 combined vacuum extraction. Based on the practical application of these new technologies and processes in the field of traditional Chinese medicine volatile oil, the existing problems were analyzed and discussed, which will provides new ideas for the extraction process and equipment upgrade of traditional Chinese medicine volatile oil.

Effects of Coriaria Sinica Maxim's extract on microcirculation and oxidative stress of wounds in rats with deep second-degree burn / 中国应用生理学杂志

OBJECTIVE@#To investigate the effects of Coriaria Sinica Maxim's extract(CSME) on microcirculation and oxidative stress of wounds in rats with deep second-degree burn.@*METHODS@#One hundred and eighty rats were randomly divided into normal saline group(NS), white petroleum group(WPL), silver sulfadiazine group (SSD), Coriariasinica Maxim's extract group which were divided into low dose(CSME-L),middle dose(CSME-M) and high dose(CSME-H). After anesthesia with burn instrument to burn the hair removal area of rats, these wounds were confirmed by pathological results with deep second degree burns.And then,those drugs were applied respectively on the wounds,such as NS、WPL、SSD and different concentrations of CSME. After injury at 48 h, 7 d, 14 d and 21 d,the healing rate(HR) of wound was measured, and the microvessel density (MVD), tissue moisture (TM), vascular endothelial growth factor (VEGF), model driven architecture (MDA), superoxide dismutase(SOD) and hydroxyproline(HYP) were detected, too. All pathological sections of the wound tissue were observed.@*RESULTS@#The HR of CSME groups were obviously increased with a dose-dependent manner, which was significantly higher than that of NS and WPL (<0.05); On the 21 day, the diameter, number, distribution of the vessels and and the TM were less than other groups with a dose-dependent manner; On the 7 and 14 day after injury, CSME groups were significantly higher than the NS, WPL and SSD with a dose-dependent manner (<0.05), but, on the 21 day after injury, they were lower than NS, WPL and SSD with a dose-dependent (<0.05) manner. The levels of SOD, HYP, NO and ET in CSME groups were higher than those in other groups with dose-dependent on SOD activity, HYP, NO and ET content (<0.05), while MDA activity was weaker than other groups (<0.05). Similarly, pathological findings were also shown that CSME groups were better than other groups with a dose-dependent manner in decrease decreasing of wound repair time and hyperplasia of scar tissue.@*CONCLUSIONS@#CSME can relieve tissue edema, promote wound contraction, speed up the formation of eschar and accelerate the proliferation of granulation tissue, which are beneficial to the wound healing in the early stages. But, it can inhibit the hyperplasia of granulation tissue to prevent the excessive scar hyperplasia of burn wound in the later stages. Its mechanism is related to regulation what microcirculation, oxidativestress, NO and VEGF.

Speckle tracking imaging in evaluation of left ventricular myocardial systolic rotationin patients with multiple myeloma / 中国医学影像技术

Objective To evaluate myocardial systolic rotation with speckle tracking imaging in multiple myeloma (MM) patients with normal left ventricular ejection fraction (LVEF).Methods A total of 42 patients with MM (LVEF≥50％) and 30 healthy controls (control group) were included,and the general and 2D echocardiographic parameters were analyzed.MM patients were divided into normal ventricular wall group (n=14) and thickened ventricular wall group (n=28).Results At mitral valve level,the subendocardial myocardium rotation and the whole myocardium rotation in normal ventricular wall group and thickened ventricular wall group reduced compared with those in control group (all P＜0.05).At apical level,the subendocardial myocardium rotation and the whole myocardium rotation in thickened ventricular wall group reduced compared with those in control group (both P＜0.05),and the differences of the subendocardial myocardium rotation and the whole myocardium rotation were not statistically significant between normal ventricular wall group and control group (both P＞0.05).LV torsion in normal ventricular wall group and thickened ventricular wall group reduced compared with control group (both P ＜ 0.05).The differences of subepicardial myocardium rotation were not significant neither in mitral valve level nor in apical level among three groups (P＞ 0.05).Conclusion LV rotation in patients with MM has been impaired before the appearance of characteristic echocardiographic changes,especially in subendocardial myocardium.

A study on the correlations study among HOMA-IR, obesity and inflammatory factors among middle aged and elderly population / 预防医学

Objective To investigate the distribution of insulin resistance (HOMA-IR) index and its influencing factorsamong middle and old aged people with normal glucose and to provide the basis for early screening and prevention of type 2diabetes. Methods A total of 229 residents were selected with health records showed normal blood glucose (fasting bloodglucose < 7.0mmol/L, postprandial 2h blood glucose<11.1 mmol/L) and more than 40 years old from July, 2012 to June,2015. Height, weight, waist and hip circumference, and the fasting plasma glucose (FPG), insulin (FINS), lowdensity lipoprotein (LDL), uric acid, tumor necrosis factor (TNF) and interleukin -6 (IL-6) were recorded to analyzethe distribution of HOMA-IR and its influencing factors. Results Totally 229 people were included, of which 113 were male(49.34%), 116 female(50.66%) . The average age was(63.58 + 8.85) years old. The average HOMA-IR index was 0.94(1.08) and there were 21 people that HOMA-IR exceed the standard (HOMA-IR≥2.68), accounting for 9.17%.TheHOMA-IR index of different gender, age, waist circumference, hip circumference, uric acid in the elderly had significantdifference (P < 0.05) .Multiple linear regression analysis showed that HOMA-IR index was positively correlated withfemale, waist circumference and IL-6 and was negatively correlated with age. Conclusion The possibility of IR was higherin women with relatively low age, female, central obesity and high IL-6 levels among the middle and old aged people withnormal blood glucose.

Analysis on the Countermeasures and the Investigation of the Current Situation of Medical Students'Humanistic Quality / 医学信息学杂志

The paper analyzes the current problems of medical students'humanistic quality and the causes,points out the necessity of strengthening the humanistic quality of medical students,and puts forward the countermeasures to be taken by libraries of medical colleges in the humanistic quality education for college students,including strengthening the construction of medical humanistic resources,doing well of medical humanistic reading guide and entrance education for new students,and strengthening reading promotion activities,etc.

Application of specialized nursing group in management of patients' venous thromboembolism / 中华护理杂志

In order to better regulate nursing work of venous thromboembolism(VTE) prevention in the hospital,and provide standardized VTE care for hospitalized patients,in 2012,our nursing department established the VTE specialist nursing group.Group members were provided "three steps" training.They performed VTE risk assessment and prevention,and conducted disease management of patients with VTE in hospital.Through development of specialist nursing group,nurses' knowledge of VTE was improved from 53.48±11.56 to 58.36-±14.68,and patients were provided standardized VTE nursing care,which was of great significance to promote the management of VTE in the hospital.

Observation nutritional status of advanced colon cancer patients undergoing chemotherapy with Ginseng nutrient nourishing decoction assisted with enteral nutrition / 中国生化药物杂志

Objective To observe the effect of Chinese herbal medicine Ginseng nutrient-nourishing decoction combined with enteral nutrition on its nutritional status during chemotherapy in patients with advanced colon cancer. Methods A prospective study was conducted to analyze the clinical data of 160 patients with advanced colorectal cancer who were enrolled in the Chinese Medicine Section of the PLA General Hospital from January 2014 to January 2017. 160 patients were divided into treatment group and control group, 80 patients in each group. The patients in the treatment group were given traditional Chinese medicine Ginsengnutyient-nourishing decoction and enteral nutrition support treatment. The control group was given enteral nutrition Support treatment. The nutritional indicators, clinical efficacy, adverse reactions and immune indicators were compared between the two groups. Results The RR67.50% of the treatment group was higher than the control group (35.00%), and the DCR57.50% was higher than that of the control group (52.50%), but there was no significant difference between the two groups. Compared with the control group, the body mass index of the treatment group, the thickness of the triceps skin fold, the upper arm muscle, the total protein, the albumin and the prealbumin were better than the control group, the diffiences was statistically significant (P<0.05). The incidence of thrombocytopenia, thrombocytopenia, hemoglobin reduction, nausea and vomiting, arrhythmia, anorexia, alopecia and fever were significantly different between the two groups (P<0.05) , IgM (all significantly higher than the control group, the difference between the two groups was statistically significant (P<0.05). Conclusion Ginseng nutrient-nourishing decoction can improve the nutritional status of patients with advanced colon cancer chemotherapy, can play a role in reducing the adverse reactions of patients, effectively improve the immune function of patients, it is worth promoting.

Observation nutritional status of advanced colon cancer patients undergoing chemotherapy with Ginseng nutrient nourishing decoction assisted with enteral nutrition / 中国生化药物杂志

Objective To observe the effect of Chinese herbal medicine Ginseng nutrient-nourishing decoction combined with enteral nutrition on its nutritional status during chemotherapy in patients with advanced colon cancer. Methods A prospective study was conducted to analyze the clinical data of 160 patients with advanced colorectal cancer who were enrolled in the Chinese Medicine Section of the PLA General Hospital from January 2014 to January 2017. 160 patients were divided into treatment group and control group, 80 patients in each group. The patients in the treatment group were given traditional Chinese medicine Ginsengnutyient-nourishing decoction and enteral nutrition support treatment. The control group was given enteral nutrition Support treatment. The nutritional indicators, clinical efficacy, adverse reactions and immune indicators were compared between the two groups. Results The RR67.50% of the treatment group was higher than the control group (35.00%), and the DCR57.50% was higher than that of the control group (52.50%), but there was no significant difference between the two groups. Compared with the control group, the body mass index of the treatment group, the thickness of the triceps skin fold, the upper arm muscle, the total protein, the albumin and the prealbumin were better than the control group, the diffiences was statistically significant (P<0.05). The incidence of thrombocytopenia, thrombocytopenia, hemoglobin reduction, nausea and vomiting, arrhythmia, anorexia, alopecia and fever were significantly different between the two groups (P<0.05) , IgM (all significantly higher than the control group, the difference between the two groups was statistically significant (P<0.05). Conclusion Ginseng nutrient-nourishing decoction can improve the nutritional status of patients with advanced colon cancer chemotherapy, can play a role in reducing the adverse reactions of patients, effectively improve the immune function of patients, it is worth promoting.

CTNNB1 Mutation in Aldosterone Producing Adenoma

Discoveries of somatic mutations permit the recognition of subtypes of aldosterone-producing adenomas (APAs) with distinct clinical presentations and pathological features. Catenin β1 (CTNNB1) mutation in APAs has been recently described and discussed in the literature. However, significant knowledge gaps still remain regarding the prevalence, clinical characteristics, pathophysiology, and outcomes in APA patients harboring CTNNB1 mutations. Aberrant activation of the Wnt/β-catenin signaling pathway will further modulate tumorigenesis. We also discuss the recent knowledge of CTNNB1 mutation in adrenal adenomas.

Application of ultrasonography guided water injection for insertion of naso-jejunal tubes / 中华护理杂志

Objective To examine the effects of application of ultrasonography guided water injection for inser-tion of naso-jejunal tubes. Methods Hospitalized patients in ICU who needed naso-jejunal tubes were recruited from one tertiary hospital in Beijing from November 2016 to April 2017. Ultrasonography guided water injection was used to assist insertion of naso-jejunal tubes. Meanwhile,we conducted semi-structured interviews to learn feel-ings and suggestions from the patients. Results A total of 40 patients were included in this study,37 patients (92.5%) were successfully inserted with the tubes at the first attempt. The duration of insertion of naso-jejunal tubes was 25 (20,38.75) min. Conclusion Ultrasonography guided water injection is a simple and convenient method to guide the placement of naso-jejunal tubes for critical ill patients,which provides guarantee for early en-teral nutrition.

Study on the Hypoglycemic Effect of Insulin Self-microemulsion for Parenteral Administration / 中国药房

OBJECTIVE:To study the hypoglycemic effects of Insulin self-microemulsion for parenteral administration on mod-el rats with type 1 diabetes in vivo. METHODS:Rats were treated with streptozotocin(50 mg/kg)to reproduce model with type 1 diabetes,ip. The model rats were randomly divided into model group (normal saline),positive control group (Insulin injection 2.25 u/kg) and self-microemulsion low,medium and high dose groups (Insulin self-microemulsion 4.5,9 and 18 u/kg);and 10 normal rats were involved in sham-operation group (normal saline). Anesthesia and operation were conducted for all rats. Positive control group was administrated,ip;other rats were parenterally administrated. The blood glucose levels in groups were detected be-fore and after 15-600 min administration. Glucose tolerance test was conducted for the rats in normal control group,model group without glucose,model group with glucose and microemulsion group (Insulin self-microemulsion 9 u/kg). All group were given glucose except model group without glucose. RESULTS:Compared with sham-operation group,the blood glucose levels in model group within 0-240 min were increased,with significant difference(P<0.05). Compared with model group,there was hypoglyce-mic trend in positive control group after 15 min,the blood glucose levels within 30-480 min were decreased,the hypoglycemic peak was 36%,and the peak time was 30 min;there was also hypoglycemic trend in microemulsion low,medium and high dose groups after 30 min,the blood glucose levels within 45-360 min were decreased,hypoglycemic peak was 18%-21%,and the peak time was 90-120 min,with significant differences (P<0.01 or P<0.05). All rats had glucose absorption peak except for model group without glucose in glucose tolerance test,and glucose of rats in microemulsion group reached its peak and then quickly de-creased. CONCLUSIONS:Insulin self-microemulsion can obviously reduce the blood glucose of model rats with type 1 diabetes.

Therapeutic Effects of Sodium Hyaluronate on Ocular Surface Damage Induced by Benzalkonium Chloride Preserved Anti-glaucoma Medications / 中华医学杂志(英文版)

<p><b>BACKGROUND</b>Long-term use of benzalkonium chloride (BAC)-preserved drugs is often associated with ocular surface toxicity. Ocular surface symptoms had a substantial impact on the glaucoma patients' quality of life and compliance. This study aimed to investigate the effects of sodium hyaluronate (SH) on ocular surface toxicity induced by BAC-preserved anti-glaucoma medications treatment.</p><p><b>METHODS</b>Fifty-eight patients (101 eyes), who received topical BAC-preserved anti-glaucoma medications treatment and met the severe dry eye criteria, were included in the analysis. All patients were maintained the original topical anti-glaucoma treatment. In the SH-treated group (56 eyes), unpreserved 0.3% SH eye drops were administered with 3 times daily for 90 days. In the control group (55 eyes), phosphate-buffered saline were administered with 3 times daily for 90 days. Ocular Surface Disease Index (OSDI) questionnaire, break-up time (BUT) test, corneal fluorescein staining, corneal and conjunctival rose Bengal staining, Schirmer test, and conjunctiva impression cytology were performed sequentially on days 0 and 91.</p><p><b>RESULTS</b>Compared with the control group, SH-treated group showed decrease in OSDI scores (Kruskal-Wallis test: H = 38.668, P < 0.001), fluorescein and rose Bengal scores (Wilcoxon signed-ranks test: z = -3.843, P < 0.001, and z = -3.508, P < 0.001, respectively), increase in tear film BUT (t-test: t = -10.994, P < 0.001) and aqueous tear production (t-test: t = -10.328, P < 0.001) on day 91. The goblet cell density was increased (t-test: t = -9.981, P < 0.001), and the morphology of the conjunctival epithelium were also improved after SH treatment.</p><p><b>CONCLUSIONS</b>SH significantly improved both symptoms and signs of ocular surface damage in patients with BAC-preserved anti-glaucoma medications treatment. SH could be proposed as a new attempt to reduce ocular surface toxicity, and alleviate symptoms of ocular surface damage in BAC-preserved anti-glaucoma medications treatment.</p>

Relationship of genotypes with clinical phenotypes and outcomes in children with cobalamin C type combined methylmalonic aciduria and homocystinuria / 中国当代儿科杂志

<p><b>OBJECTIVE</b>To analyze mutation types, clinical features, and treatment outcomes of cobalamin C (cblC) type combined methylmalonic aciduria and homocystinuria (MMA-HC) and to investigate the relationship of genotypes with clinical phenotypes and outcomes.</p><p><b>METHODS</b>The clinical data of 16 Chinese children diagnosed with cblC type MMA-HC by gene analysis were retrospectively analyzed. According to the onset age, the patients were classified into early onset (≤1 year) and late onset (>1 year). According to the clinical phenotype, the patients were classified into mild, moderate, and severe groups. All the patients were treated with vitamin B12 (cyanocobalamin) or hydroxocobalamin, betaine, folate, vitamin B6, and L-carnitine.</p><p><b>RESULTS</b>Fifteen patients belonged to the early onset type, including 11 in the severe group and 4 in the moderate group. The remaining one belonged to the late onset type. Seven reported mutations and two novel mutations (c.445_446delTG and c.349G>c) were detected. The c.609G>A and c.658_660delAAG were the most common mutations detected in 13 (81%) out of 16 patients. The genotype caused by compound heterozygous mutations of these two alleles (c.609 G>A/c.658_660delAAG) was the most common in the patients, detected in 4 (25%) out of 16 patients. Patients with this genotype had severe microcephaly and eye diseases and these clinical manifestations were not improved after the treatment. The patient with late-onset cblC type MMA-HC had normal clinical phenotypes after treatment. In the 15 early onset patients, the more severe the clinical phenotype, the worse the treatment outcome.</p><p><b>CONCLUSIONS</b>The cblC type MMA-HC mainly manifests as early onset in China and c.609G >A and c.658_660delAAG are the most common mutations causing this disease. The clinical phenotypes are associated with the outcomes in children with cblC type MMA-HC.</p>

Gene mutation analysis of X-linked hypophosphatemic rickets / 中国当代儿科杂志

<p><b>OBJECTIVE</b>To investigate the frequency and type of PHEX gene mutations in children with X-linked hypophosphatemic rickets (XLH), the possible presence of mutational hot spots, and the relationship between genotype and clinical phenotype.</p><p><b>METHODS</b>Clinical data of 10 children with XLH was retrospectively reviewed. The relationship between gene mutation type and severity of XLH was evaluated.</p><p><b>RESULTS</b>PHEX gene mutations were detected in all 10 children with XLH, including 6 cases of missense mutation, 2 cases of splice site mutation, 1 case of frameshift mutation, and 1 case of nonsense mutation. Two new mutations, c.2048T>C and IVS14+1delAG, were found. The type of PHEX gene mutation was not associated with the degree of short stature and leg deformity (P=0.571 and 0.467), and the mutation site was also not associated with the degree of short stature and leg deformity (P=0.400 and 1.000).</p><p><b>CONCLUSIONS</b>Missense mutation is the most common type of PHEX gene mutation in children with XLH, and c.2048T>C and IVS14+1delAG are two new PHEX gene mutations. The type and site of PHEX gene mutation are not associated with the severity of XLH.</p>

Clinical analysis and genetic diagnosis of short-limb inherited short stature diseases in children / 中国当代儿科杂志

<p><b>OBJECTIVE</b>To analyze the clinical manifestations, bone X-ray findings and genetic analysis results of three short-limb inherited short stature diseases: achondroplasia (ACH), hypochondroplasia (HCH) and pseudoachondroplasia (PSACH).</p><p><b>METHODS</b>The clinical manifestations, bone X-ray findings, and genetic analysis results of 10 children with genetically confirmed short-limb inherited short stature diseases, including 4 cases of ACH 3 cases of HCH, and 3 cases of PSACH, were analyzed.</p><p><b>RESULTS</b>The 10 patients had a mean body height of -3.69±1.79 SD, a mean sitting height/standing height ratio of 0.65±0.03, and a mean finger spacing/body height ratio of 0.93±0.04. Four ACH cases and 3 PSACH cases showed typical bone X-ray findings; one HCH case showed a smaller sciatic notch, and another HCH case showed no widening of interpedicular distance. G380R mutation in FGFR3 gene was detected in 3 of 4 ACH cases, and Y278C mutation in the other ACH case, N540K mutation in FGFR3 gene was detected in 3 HCH cases, and heterozygous mutations in COMP gene were detected in 3 PSACH cases.</p><p><b>CONCLUSIONS</b>Children with ACH and PSACH have severer short stature and skeletal deformities than children with HCH, who have mild, atypical clinical manifestations. Bone X-ray and genetic analysis are helpful for the diagnosis and differential diagnosis of the three diseases. The mutational hotspots in two genes are involved in the three diseases, which is conducive to clinical genetic diagnosis.</p>

Analysis of infection status and pathogenic features of human metapneumovirus among children in Hangzhou between year 2009 and 2011 / 中华预防医学杂志

<p><b>OBJECTIVE</b>To study the infection status and pathogenic features of human metapneumovirus (hMPV) among children with acute respiratory tract infection in Hangzhou.</p><p><b>METHODS</b>A total of 372 children less than 14 years old with acute respiratory tract infections were recruited as subjects from the pediatric clinic or intensive care unit (ICU) of 3 hospitals in Hangzhou during November 2009 to January 2010, and November 2010 to January 2011. A total of 372 specimens were collected, including 351 respiratory swab, 9 nasopharyngeal aspirate material, 8 endotracheal aspirate material and 4 sputum. The total nucleic acid was then extracted from the specimens, and the nucleoprotein (N) gene of hMPV was amplified by RT-PCR, whose positive products were sequenced and analyzed. Africa green monkey kidney cells (Vero-E6) were applied to culture hMPV among the positive samples; meanwhile fluorescence quantitative RT-PCR was adopted to test other respiratory virus infection.</p><p><b>RESULTS</b>Out of 372 patients, 42 (11.2%) were positive for N gene of hMPV. The positive rate of hMPV among boys was 11.5% (26/226), and correspondingly 10.9% (16/146) among girls. The difference showed no statistical significance (χ(2) = 0.026, P > 0.05). The youngest patient was only 2 month-old and the eldest patient was 14 years old. The median of the patients' age was 24 months. Fifteen positive samples amplified by RT-PCR were sequenced, and all turned out to be subtype B1; whose similarity to GD165 found in Guangdong was 98.1% - 99.5% and similarity to BJ1897 in Beijing was 87.8% - 89.2%. The co-infection rate between hMPV and other respiratory virus was 45.2% (19/42); most of which was between hMPV and respiratory syncytial virus, whose rate at 26.1% (11/42).</p><p><b>CONCLUSION</b>hMPV was the single genotype relevant with the acute respiratory tract infection disease among children in Hangzhou district; however, the co-infection with other respiratory virus did exist.</p>

Contamination of surgical materials by exfoliated cancer cells during gastric carcinoma operation / 中华胃肠外科杂志

<p><b>OBJECTIVE</b>To explore the exfoliated cancer cell contamination in different surgical materials during the malignant gastrectomy.</p><p><b>METHODS</b>Ninety gastric cancer patients undergoing gastrectomy were prospectively enrolled in this study. The operation materials of these 90 gastrectomy were divided into 5 groups: surgical instruments (A), gloves for surgeons (B), gloves and gauzes of scrub nurse (C), gauzes for hemostasis (D), anastomosis instrument (E). The rinse fluid of materials was cultured to verify positive cancer cells. Associations among different pathological stages, differentiations, materials and positive cancer cells rates were examined.</p><p><b>RESULTS</b>Stage II and III patients had higher positive rates of exfoliated cancer cell contamination than stage I patients [26.5 (9/34) and 47.5% (21/46) vs. 10.0% (1/10),P=0.046]. Low differentiated adenocarcinoma group had higher positive rate than moderately and well differentiated adenocarcinoma groups [44.8% (26/58) vs. 16.7% (4/24) and 12.5% (1/8), P=0.020]. Positive cancer cell rates of 5 kinds of materials were as follows: 12.2% (11/90) in A group, 6.7% (6/90) in B group, 22.2% (20/90) in C group, 15.6% (14/90) in D group and 3.3% (3/90) in E group, and the differences were significant (P<0.01).</p><p><b>CONCLUSION</b>Different operation materials have different risks to be contaminated by cancer cells, which is associated with the contact frequency, cancer staging and pathological classification.</p>