DNA Mutational Analysis ; Humans ; Infant, Newborn ; Mutation ; Neonatal Screening

Objective To explore the proportion of different types of stones in patients with kidney stones in Xinjiang, and to analyze the relationship between stone composition and urine physicochemical properties and protein composition.Methods Through a case-control study, 355 patients with kidney stones who were hospitalized in the Xinjiang Uygur Autonomous Region People′s Hospital from March to November 2010 were enrolled in the same period, and non-urinary tract diseases were hospitalized and excluded from other diseases or complications of the 30 cases of renal impairment in the control group.The composition of the stones was analyzed.The main components of the stones were divided into oxalate group, carbonic acid group, uric acid group and phosphate group.The physicochemical properties and protein composition of 24 h urine were analyzed by ion selective electrode method, enzymatic and immunoturbidimetric assay.The difference between the two samples was analyzed by t test, and the differences between the two groups were analyzed by F-test and LSD-t test.Results Compared with the control group(30 cases), urine pH(5.33±0.32) was significantly lower in the oxalate group (244 cases), 24 h urinary calcium and 24 h uric acid[(7.68±0.35) mmol, (3.48±0.23)mmol (pH=5.874,P<0.05)].The urine pH (6.98±0.77) was increased in the phosphate group (23 cases), and the 24 h urinary magnesium (3.02±0.29) mmol was significantly lower than in the control group (10.56±0.63) mmol, and the level of 24 h urinary calcium (7.96±0.569) mmol increased (t>9.436, P<0.05).There were 23 patients with calcineuria (P<0.05).The urine pH level in the uric acid group (61 cases) was as low as (4.97±0.48), and 49 patients were accompanied by excessive acidification (80.3%) and 24 h uric acid (4.14±0.37) mmol (t=11.459,P<0.05).And the urine pH (6.86±0.68) was higher in the phosphate group (n=23) (t=6.876,P<0.05).In addition, urinary Cystatin C (0.653±0.148)mg/L, urinary α1-microglobulin (1.53±0.56)mg/dl and urinary β2-microglobulin (0.585±0.088)mg/L in the oxalate group (t>8.442,P<0.05).Conclusion There may be a correlation between renal stone composition with urine metabolic changes.

Objective To investigate the effects of soft silicone foam dressing on the prevention of intraoperative pressure ulcer in patients undergoing spine surgery. Methods A total of 232 patients were divided into control group and experimental group (116 cases each group) by coin slot method. The control group was treated with conventional pressure ulcer prevention and treatment. The experimental group was treated with conventional intervention measures. Soft silicone foam dressing paste use, the end of surgery to observe the two groups of patients under the chin skin condition. Results In the control group, there were 10 cases at stage I in the lower part of the skin, and 5 cases (4 cases of skin blisters and 1 case of partial cortical absence) at stageⅡ. 2 cases in the experimental group were at stage I; no cases were at stageⅡ, the two groups were no stage Ⅲ and above pressure ulcer occurred in the experimental group under the chin pressure ulcer was significantly lower than the control group, The difference was statistically significant (χ2=10.727, P<0.05). Conclusion Conventional pressure ulcer prevention and control interventions combined with shaped soft silicone foam dressing for skin protection of special parts of chin under prone position surgery is beneficial to prevention of intraoperative pressure ulcers.

ObjectiveTo observe the clinical effects of mirabilite external application and neostigmine injection at Zusanli acupoint combined with Xuebijing intravenous injection on patients with severe sepsis.Methods A history-prospective controlled study was conducted. Patients with severe sepsis admitted to the Fourth People's Hospital of Jiangsu University from January 2012 to November 2015 were enrolled. Twenty-one cases admitted from January 2014 to November 2015 were assigned as a research group and treated with application of mirabilite external application, Zusanli acupoint injection of neostigmine combined with intravenous Xuebijing injection; 22 patients with Xubijing treatment from January 2012 to November 2015 were included in a Xubijing group; 21 patients with routine therapy from January 2012 to November 2013 were included in a control group. The changes of white blood cell count (WBC), C-reactive protein (CRP), procalcitonin (PCT), mean arterial pressure (MAP), oxygenation index (OI), serum creatinine (SCr), acute physiology and chronic health evaluation Ⅱ(APACHEⅡ) score, sequential organ failure assessment (SOFA), gastrointestinal function score, blood platelet count (PLT), plasma prothrombin time (PT), activated partial thromboplastin time (APTT), and D-dimmer in three groups before and after treatment were observed; the length of stay in ICU and the 28-day mortality were compared among the three groups. Results Compared with those before treatment, WBC, PCT, CRP, SCr, APACHE Ⅱ score, SOFA score, gastrointestinal function score, APTT, PT, and D-dimer were all obviously lower after treatment for 7 days in various groups; OI, MAP, PLT were significantly higher, and the improvement degree of WBC, PCT, CRP, SCr, APACHE Ⅱ score, SOFA score, gastrointestinal function score, OI in research group was more significant than those of control group and Xubijing group [WBC (×109/L): 7.52±0.75 vs. 12.87±4.13, 10.88±0.66, PCT (μg/L): 1.14±0.55 vs. 6.32±1.39, 3.47±1.94, CRP (mg/L): 21.0±9.2 vs. 65.0±13.6, 35.0±13.9, OI (mmHg, 1 mmHg = 0.133 kPa): 357.0±20.4 vs. 295.0±20.4, 309.0±21.4, SCr (μmol/L): 7.89±2.35 vs. 14.33±9.17, 11.27±4.65, APACHE Ⅱ score: 10.38±0.75 vs. 18.27±2.57, 13.09±4.10, SOFA score: 1.05±0.66 vs. 6.01±2.33, 3.26±1.03, gastrointestinal function score: 0.31±0.11 vs. 2.01±0.46, 1.85±0.29, all P < 0.05], the improvement of PLT, APTT, PT, D-dimer indicators in the research group was more significant than those in control group, but the above improvement compared with that in Xubijing group, no statistically significant difference was found [PLT (×109/L): 220.32±32.44 vs. 105.56±44.03, 170.56±54.03, APTT (s): 30.16±5.23 vs. 39.09±10.11, 29.56±6.85, PT (s): 10.74±1.25 vs. 13.56±4.65, 10.05±1.44, D-dimer (mg/L): 1.13±1.98 vs. 4.03±2.65, 1.13±0.54]. The length of stay in ICU was shortened in research group than that in control group and Xubijing group (days: 13.23±9.45 vs. 25.22±15.46, 18.56±10.33, P < 0.05); the 28-day mortality was significantly lower in the research group than that in the control group [28.6% (6/21) vs. 47.6% (10/21), P < 0.05], but there was no statistically significant difference compared with that in Xubijing group [28.6% (6/21) vs. 31.8% (7/22), P > 0.05]. Conclusions The treatment of mirabilite external application and neostigmine injection at Zusanli acupoint combined with Xuebijing intravenous injection can obviously improve the clinical symptoms, blood coagulation indexes and organ functions, reduce the levels of inflammatory indexes, shorten the time of the length of stay in ICU and elevate the survival rate of patients with severe sepsis.

Objective: To study the interaction between the calcium channel antagonist nimodipine and growth factors (vascular endothelial growth factor [VEGF] and platelet-derived growth factor[PDGF]) during the formation of new retinal vessels. Methods: The hyperoxia model was induced by proliferative retinopathy (OIR) in newborn Sprague-Dawley (SD) rats. SD rats (2 d after birth) were randomized into 5 groups: normal control group, pure OIR group and group 3, 4 and 5, where the animals received retrobulbar injection of nimodipine 10 ?l, 5 ?l and 2 ?l once every 2 d for 3 times, respectively. Both eyeballs of newborn rats were made into common pathological sections and detected by immunohistochemistry method to count the nuclei of proliferative retinal vessel cells and to investigate the expression of VEGF and PDGF in retina. Results: The nuclei of proliferative retinal vessel cells and the expressions of VEGF and PDGF in pure OIR group increased significantly compared to those of normal control group(P

Objective To study the features of treatment on neurochemical metabolites in prefrontal lobe and thalamus by proton magnetic resonance spectroscopy (1H-MRS) in first-episode drug-naive patients with early-onset schizophrenia (EOS).Methods Forty-two EOS (study group) met with Diagnostic and Statistical Manual of Mental Disorders-Fourth Edition (DSM-Ⅳ) were recruited.Prefrontal lobe and thalamus were evaluated by multi-voxel 1H-MRS before and 4-week after treatment with a single atypical antipsychotic.The levels of N-acetylaspartate (NAA),creatine compounds (Cr) and choline-containing compounds (Cho) were measured.The patients also received Positive and Negative Syndrome Scale (PANSS).Forty normal controls (normal control group) underwent the same 1H-MRS detection.Results Before treatment,the NAA/Cr ratios in left prefrontal lobe,right prefrontal lobe and lefi thalamus in study group were lower than those in normal control group (1.45 ± 0.26 vs 1.60 ± 0.34,t =2.251,P =0.027;1.43 ±0.26 vs 1.60 ±0.35,t =2.505,P=0.014;1.48 ±0.27 vs 1.65 ±0.35,t =2.470,P =0.016).After 4-week treatment,the NAA/Cr ratios in both left prefrontal lobe and left thalamus of study group were significantly increased compared with those before treatment (1.58 ± 0.30 vs 1.45 ± 0.26,t =2.122,P =0.037;1.62 ± 0.32 vs 1.48 ± 0.27,t =2.167,P =0.033).After 4-week treatment in study group,the total score,positive symptom score,negative symptom score and general pathologic score of PANSS,and the total score of Clinical Global Impression (CGI) were significantly lower compared with those before treatment (59.1 ± 10.2 vs 82.0 ± 13.2,t =8.896,P=0.000;15.3 ±5.1 vs 22.9 ±7.1,t =5.634,P =0.000;16.4 ±5.2 vs 21.1 ±7.8,t =3.249,P =0.002;27.4 ±7.6 vs 38.1 ± 8.8,t =5.963,P =0.000;3.6 ± 0.4 vs 4.4 ± 0.5,t =8.097,P =0.000).There was no correlation between the changes of neurochemical metabolite levels such as NAA/Cr and Cho/Cr both in prefrontal lobe and left thalamus,and the clinical symptoms changes,such as total score and every score of PANSS,the total score of CGI in study group after treatment (all P ＞ 0.05).Conclusions The ratios of NAA/Cr are decreased not only in bilateral prefrontal lobe,but also in left thalamus,and the ratios may increase both in left prefrontal lobe and left thalamus after 4 weeks' treatment with atypical antipsychotics in EOS.The treatment outcomes of NAA/Cr do not agree with the improvement of the clinical symptoms.

Objective To evaluate the effects of 6-week atypical antipsychotics treatment on serum brain-derived neurotrophic factor (BDNF)level,and the correlation between BDNF level and clinical efficiency in first-episode antipsychotic-na?ve schizophrenia.Methods We recruited 39 hospitalized patients with first-episode antipsychotic-na?ve schizophrenia that met with Diagnostic and Statistical Manual of Mental Disorders—4th Edition (DSM-IV).Both Positive and Negative Syndrome Scale (PANSS)and the level of serum BDNF were measured before and after 6 weeks’treatment with atypical antipsychotics.We also studied 30 healthy controls.Serum BDNF was assayed at baseline.Results Pre-treatment BDNF level was significantly lower in the schizophrenic patients than in the controls [(6.82±2.1 5 )μg/L vs .(1 1.6 ± 3.32 )μg/L,t = 7.239,P < 0.001 ].Although BDNF level increased with treatment (t =2.349,P =0.021)in the schizophrenics,post-treatment BDNF level was still lower than in the normal controls (t =4.634,P <0.001).After 6 weeks’treatment for schizophrenia,the total score of PANSS,the scores of positive and negative symptoms,and the score of general psychopathology scale were all decreased (t =6.1 64,P < 0.001;t = 4.520,P < 0.001;t = 4.132,P < 0.001;t = 5.142,P < 0.001 ).Pre-treatment BDNF levels were directly correlated not only with the rate of decreased PANSS total score (r =0.348, P <0.05),but also with the rate of decreased negative symptoms score (r = 0.35 1,P < 0.05 ).However,pre-treatment BDNF levels were not correlated with improved positive symptoms,general psychopathology (r =0.204, 0.186,P >0.05),or duration of illness (r = - 0.058,P > 0.05 ).Changes in BDNF levels with treatment were correlated with the duration of illness (r =-0.345,P <0.05),but not with psychiatric improvement (r =0.036-0.1 74,P >0.05).Conclusion BDNF level is significantly lower in patients with first-episode antipsychotic-na?ve schizophrenia than in normal controls.It could be improved by using antipsychotics.Higher pre-treatment BDNF level may predict better response to antipsychotics.

Objective To understand the radiation protection effect of pre-irradiation administrations of nilestriol on the mice with bone marrow type of acute radiation syndrome after irradiation with 60Co γ-rays,along with its mechanisms for improvement of hematopoiesis.Methods The nilestriol administration protocols were prepared by analysis of peripheral blood cell counts and survival rate experiment on mice.The mechanisms by which the pre-irradiation twice administrations improved the post-irradiation recovery of bone marrow hematopoiesis were studied by the analysis of the surface marker of bone marrow hematopoietic stem/progenitor cells of mice and by the inspection of hematopoietic progenitor cell colony and by using histopathological assessment of bone marrow.Results Pre-irradiation administration of nilestriol at two-or three-day intervals had been shown to increase survival rates up to 100％ in mice exposed to 9.0 Gy γ-rays,which was superior to a single administration (20％,x2 =21.66,21.66,P ＜0.05).The pre-irradiation administration both at one-day or two-day intervals were capable of improving the recovery of peripheral blood counts,including white blood cell (WBC),red blood cell (RBC),and platelet in mice exposed to 6.5 Gy (F =21.33,100.9,49.34,19.19,P ＜ 0.05),showing the better effects than a single administration (F =17.11,63.38,21.89,14.37,P ＜ 0.05).The two-day-interval administration of nilestriol could significantly increase the numbers of bone marrow hematopoietic stem/progenitor cell counts (t =8.58,2.80,P ＜ 0.05) in mice on day 10 after 6.5 Gy irradiation.This also could be capable to significantly improve colony formation,with there being statistical difference compared with single administration(t =4.29,6.34,P ＜ 0.05).Also the administration at two-day-interval were also usefull in reconstruction of hematopoietic cell hyperplasia of bone marrow of irradiated mice.Conclusions As compared with conventional single admination,the pre-irradiation multiple administrations of nilestriol showed significantly improved radiation protection effects.Considering a nuclear medical emergency rescue,it is recommended to follow the pre-irradiation administration of nilestriol at two-day interval,which could obtain the best protection effects at minimum administration frequency.

Objective To isolate the microsatellite DNA sequences of Oncomelania hupensis and analyze the polymorphic microsatellite loci.Methods The digested genomic fragments were hybridized with biotinylated oligonucleotide probes.The target fragments moleculars were captured and enriched.Then these fragments were cloned and sequenced.The suitable microsatellite loci were chosen and the polymorphism was screened by PAGE gel electrophoresis.Results A total of 205 microsateilite DNA sequences were obtained (GenBank accession numbers :GU204044～GU204248).The percentage of perfect microsatellite DNA sequence was 36.10% (74/205),with imperfect sequence as 49.76% (102/205) and compound sequence as 14.15% (29/205).Twenty typical microsatellite sequences were selected to design amplifying primers,and 13 microsatellite loci were found to be polymorphism.Conclusion A total of 205 microsatellite DNA sequences of Oncomelania hupensis are isolated and first reported,which will be useful for population genetic and mapping studies of Oncomelania hupensis.

Objective: To investigate the current status of screen exposure among preschool children in Shanghai and its association with family screen environment, so as to provide a scientific basis for family screen management. Methods: Using a convenient sampling method, a total of 349 preschool children aged 4-6 years were selected from 36 kindergarten classes in Xuhui District and Pudong New Area in Shanghai during April to June in 2023. Demographic characteristics and family screen environment were surveyed through an online questionnaire. Screen exposure of children was assessed using a diary method, with parents recording the activities over a 7day period. Multiple Logistic regression analysis was employed to identify factors influencing childrens screen content. Results: The average daily screen exposure time for children was (61.2±40.2) minutes, with an average of (12.4±17.6) minutes spent on educational screen content, 80.8% predominantly watched noneducational screen content. The percentages of time spent on educational screen content for 4yearold boys, 4yearold girls, 5yearold boys, 5yearold girls, 6yearold boys, and 6yearold girls were 20.1%, 14.7%, 21.3%, 21.9%, 20.6%, and 26.9%, respectively. Multivariate Logistic regression showed that children aged 5yearold (OR=0.49, 95%CI=0.25-0.96) and 6yearold (OR=0.45, 95%CI=0.21-0.95) were negatively associated with more noneducational screen content (P<0.05). However, occasional (OR=2.02, 95%CI=1.09-3.75) and sometimes (OR=4.50, 95%CI=1.70-11.90) using electronic devices to calm young child when crying, as well as children using electronic devices without adult supervision (OR=1.81, 95%CI=1.01-3.24) were positively associated with more noneducational screen content (P<0.05). Conclusions Preschool children in Shanghai exhibit high exposure to noneducational screen content, and family screen environment and parentchild interaction are associated with noneducational screen exposure. Strategies for family screen management should be developed to regulate childrens screen exposure behaviors, allowing electronic devices to play a positive role in their developmental process.