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1.
Chemosphere ; 358: 142055, 2024 Jun.
Article in English | MEDLINE | ID: mdl-38641292

ABSTRACT

The impact of desalination brine on the marine environment is a global concern. Regarding this, salinity is generally accepted as the major environmental factor in desalination concentrate. However, recent studies have shown that the influence of organic contaminants in brine cannot be ignored. Therefore, a non-targeted screening method based on comprehensive two-dimensional gas chromatography-quadrupole mass spectrometry (GC × GC-qMS) was developed for identifying organic contaminants in the desalination brine. A total of 404 compounds were tentatively identified from four seawater desalination plants (three reverse osmosis plants and one multiple effect distillation plant) in China. The identified compounds were prioritized based on their persistence, bioaccumulation, ecotoxicity, usage, and detection frequency. Twenty-one (21) compounds (seven phthalates, ten pesticides, four trihalomethanes) were then selected for further quantitative analysis and ecological risk assessment, including compounds from the priority list along with substances from the same chemical classes. Ecologically risky substances in brine include diisobutylphthalate and bis(2-Ethylhexyl) phthalate, atrazine and acetochlor, and bromoform. Most of the contaminants come from raw seawater, and no high risk contaminants introduced by the desalination process have been found except for disinfection by-products. In brine discharge management, people believed that all pollution in raw seawater was concentrated by desalination process. This study shows that not all pollutants are concentrated during the desalination process. In this study, the total concentration of pesticide in the brine increased by 58.42%. The concentration of ∑PAEs decreased by 13.65% in reverse osmosis desalination plants and increased by 10.96% in the multi-effect distillation plant. The concentration of trihalomethane increased significantly in the desalination concentrate. The change in the concentration of pollutants in the desalination concentrate was related to the pretreatment method and the chemical characteristics of the contaminants. The method and results given in this study hinted a new idea to identify and control the environmental impact factors of brine.


Subject(s)
Salinity , Seawater , Water Pollutants, Chemical , Water Purification , Seawater/chemistry , Water Pollutants, Chemical/analysis , Risk Assessment , Water Purification/methods , China , Environmental Monitoring/methods , Pesticides/analysis , Gas Chromatography-Mass Spectrometry , Salts/chemistry , Phthalic Acids/analysis , Trihalomethanes/analysis
2.
Article in English | WPRIM (Western Pacific) | ID: wpr-967496

ABSTRACT

Objective@#: Ischemia and hemorrhage of pituitary adenomas (PA) caused important clinical syndrome. However, the differences on clinical characteristics and surgical outcomes between these two kinds apoplexy were less reported. @*Methods@#: A retrospective analysis was made of patients with pituitary apoplexy between January 2013 and June 2018. Baseline and clinical characteristics before surgery were reviewed. All patients underwent transsphenoidal surgery and were followed up at least 1 year. @*Results@#: Total 67 cases (5.8%) among 1147 pituitary tumor patients were enrolled, which consisted of 28 (~2.4%) ischemic PA and 39 (~3.4%) hemorrhagic PA. There were more male patients in the ischemic group compared with hemorrhagic group (78.6% vs 53.8%, p=0.043). However, the mean age, tumor size and functional tumor ratio were significant higher in the hemorrhagic group. Headache was more common in ischemic PA (82.1%) than that of hemorrhagic PA (51.3%, p=0.011). Magnetic resonance imaging findings found that mucosal thickening and enhancement of the sphenoid sinus was observed in 15 ischemic PA patients (n=27, 55.6%), but none in patients with hemorrhagic PA (n=38, p<0.0001). It was worth noting that the rate of pre-surgical hypopituitarism in ischemic PA patients were seemed higher than that in hemorrhagic PA patients, but not significant. The two groups got a total tumor resection rate at 94.1% and 92.9%, independently. No significant difference on the operative time, blood loss in operation and complications in perioperative period was observed in two groups. After operation, cranial nerve symptoms recovered to normal at 81.8% of ischemic PA patients and 82.6% of hemorrhagic PA patients. Importantly, the incidence of postoperative hypopituitarism partially decreased in both groups, among which the rate of hypothyroidism in ischemic PA patients significantly decreased from 46.4% to 18.5% (p=0.044). @*Conclusion@#: Patients with ischemic PA presented different clinical characteristics to the hemorrhagic ones. Transsphenoidal surgery should be considered for the patients with neuro-ophthalmic deficits and might benefit for pituitary function recovery of the apoplectic adenoma patients, especially pituitary thyroid axis in ischemic PA patients.

3.
Front Microbiol ; 13: 908326, 2022.
Article in English | MEDLINE | ID: mdl-36090079

ABSTRACT

Due to the harsh environment in the Tibetan Plateau, traditional grazing greatly limits the growth potential of local animals and causes severe ecosystem degradation. This is an urgent issue to be solved, which requires alternative strategies for grazing animals in the Tibetan alpine pastoral livestock systems. This study aimed to investigate the effects of different feeding strategies on growth performance and ruminal microbiota-host interactions in the local breed of sheep (Gangba sheep). Thirty 9-month old Gangba sheep (n = 10 per group) were assigned to natural grazing (G), semi-grazing with supplementation (T), and barn feeding (F) groups (supplementation of concentrate and oat hay) based on body weight. At the end of the experiment (75 d), all sheep were weighed, rumen fluid was obtained from six sheep per group, and ruminal epithelium was obtained from 3 sheep per group. The results showed that: (1) Compared with the G and T groups, the F group significantly increased dry matter intake, average daily gain, and feed conversion ratio of animals. Additionally, Gangba sheep in the F group had higher concentrations of ruminal short-chain volatile fatty acids (VFAs), especially propionate and butyrate (P <0.05) than sheep in the G and T groups. (2) The principal coordinates analysis indicated a significant difference in bacterial composition among different feed strategies. More specifically, the relative abundance of propionate (unidentified F082 and Succiniclasticum) and butyrate-producing (Eubacterium_coprostanoligenes_group) genera were also observed to be increased in the F group, in which unidentified F082 was identified as a differential biomarker among the three groups according to linear discriminant analysis effect size analysis. (3) The dynamics of the rumen epithelial transcriptome revealed that ECM-receptor interactions, focal adhesion, and PI3K-Akt signaling pathways, which are critical in mediating many aspects of cellular functions such as cell proliferation and motility, were upregulated in the F group. In conclusion, under harsh conditions in the Tibetan alpine meadow, barn feeding increased ruminal VFAs concentrations (especially propionate and butyrate), which stimulated gene expression related to cell proliferation in rumen epithelium, appearing to be superior to natural grazing and semi-grazing in gaining body weight of the local Gangba sheep.

4.
Article in Chinese | WPRIM (Western Pacific) | ID: wpr-934352

ABSTRACT

Objective:To investigate the clinical significance of detecting serum 25-hydroxyl-vitamin D [25(OH)D] level and albumin/fibrinogen ratio (AFR) in patients with rheumatoid arthritis (RA).Methods:This retrospective study included 131 patients (95 patients with RA and 36 with arthralgia excluding autoimmune diseases), who were treated in Bozhou People′s Hospital from May 2017 to January 2020. Forty healthy controls underwent health checkups during the same period served as healthy control. RA group was divided into high (>5.1, 25 cases), medium (3.2<DAS28-CRP≤5.1), 40 cases and low (≤3.2, 30 cases) subgroups by disease activity (DAS28-CRP) based on 28 joint counts and the level of C-reactive protein(CRP). RA patients were further divided into normal (≥30 ng/ml, 17 cases), insufficient (20 ng/ml ≤ 25(OH)D<30 ng/ml, 31 cases) and deficient (<20 ng/ml, 47 cases) subgroups according to the serum 25(OH)D concentration; 4 age subgroups (≤44 years of 21 cases, 45-59 years of 43 cases, 60-74 years of 21 cases and ≥75 years of 10 cases); 2 sex subgroups (79 female and 16 male). Serum 25(OH)D, albumin and fibrinogen levels were measured in all patients and healthy controls. The general clinical and laboratory indexes were collected and analyzed. Multivariate logistic regression analyses were performed to determine the independent risk factors of RA.Results:The serum 25(OH)D concentration and albumin/fibrinogen ratio were lower ( P<0.05) in rheumatoid arthritis patients than those in other groups, and serum 25(OH)D insufficiency or deficiency was evidenced in 82.11% (78/95) rheumatoid arthritis patients. Among patients with rheumatoid arthritis, the levels of 25(OH)D were apparently different in various age groups ( P<0.05) and significantly lower in female than those in male ( P<0.05). In addition, a significant negative correlation was found between AFR and DAS28-CRP ( r=-0.497, P<0.01). Logistic regression analysis showed that 25(OH)D ( OR=0.852, 95% CI: 0.768-0.944, P=0.002) and AFR ( OR=0.626, 95% CI 0.480-0.817, P=0.001), RF-IgM ( OR=1.044, 95% CI 1.019-1.069, P<0.001) and anti-CCP antibodies ( OR=1.017, 95% CI 1.002-1.032, P=0.030) were independent risk factors for disease activity in RA patients. Conclusions:The serum 25(OH)D and AFR levels are significantly reduced and 5(OH)D insufficiency or deficiency is common in RA patients, suggesting that low levels of 25(OH)D and AFR may be the risk factors reflecting the RA disease activity.

5.
Neuroscience Bulletin ; (6): 81-94, 2022.
Article in English | WPRIM (Western Pacific) | ID: wpr-929082

ABSTRACT

Congenital hydrocephalus is a major neurological disorder with high rates of morbidity and mortality; however, the underlying cellular and molecular mechanisms remain largely unknown. Reproducible animal models mirroring both embryonic and postnatal hydrocephalus are also limited. Here, we describe a new mouse model of congenital hydrocephalus through knockout of β-catenin in Nkx2.1-expressing regional neural progenitors. Progressive ventriculomegaly and an enlarged brain were consistently observed in knockout mice from embryonic day 12.5 through to adulthood. Transcriptome profiling revealed severe dysfunctions in progenitor maintenance in the ventricular zone and therefore in cilium biogenesis after β-catenin knockout. Histological analyses also revealed an aberrant neuronal layout in both the ventral and dorsal telencephalon in hydrocephalic mice at both embryonic and postnatal stages. Thus, knockout of β-catenin in regional neural progenitors leads to congenital hydrocephalus and provides a reproducible animal model for studying pathological changes and developing therapeutic interventions for this devastating disease.


Subject(s)
Animals , Mice , Disease Models, Animal , Hydrocephalus/genetics , Mice, Knockout , Neurons , beta Catenin/genetics
6.
Article in Chinese | WPRIM (Western Pacific) | ID: wpr-907154

ABSTRACT

Objective To establish a rapid prediction method of the antioxidant activity in aqueous extract solutions of Melastoma dodecandrum based on ultraviolet spectroscopy and partial least squares regression algorithm. Methods The DPPH free radical scavenging effect was used to characterize the antioxidant activity of aqueous extract solutions of Melastoma dodecandrum. The ultraviolet spectra of 190-600 nm were collected. The partial least squares regression model of antioxidant activity was established after optimizing the wavelength range and preprocessing method. The software was devised using Visual Basic as the integrated development environment to provide a convenient tool for the rapid determination of antioxidant activity. Results The optimal partial least squares regression model was established based on 200-290 nm as wavelength range and unit variance scaling as preprocessing method. The correlation coefficient of calibration, root mean square error of estimation, root mean square error of cross-validation was 0.887, 2.20% and 2.17%, respectively. The correlation coefficient of validation, root mean square error of prediction was 0.868, 2.08%. The average predicted recovery was 100.1±2.3%. With the predictive function in the software, the antioxidant activity of aqueous extract solution of Melastoma dodecandrum can be calculated automatically within 2 s after collecting the ultraviolet spectra. Conclusions This study provides a rapid method for the prediction of antioxidant activity in aqueous extract solutions of Melastoma dodecandrum.

7.
Article in Chinese | WPRIM (Western Pacific) | ID: wpr-957505

ABSTRACT

Objective:To investigate and analyze the awareness of malignant hyperthermia (MH) in anesthesiology nurses in mainland China.Methods:From November 2021 to January 2022, anesthesiology nurses of secondary hospitals or above in Chinese mainland were enrolled by convenience sampling and investigated by a self-designed questionnaire on the awareness of MH.The system automatically recorded the situation of questionnaires.Results:A total of 2 058 anesthesiology nurses participated in the survey, distributed in 21 provinces, 2 autonomous regions (Ningxia Hui Autonomous Region, Guangxi Zhuang Autonomous Region) and 4 municipalities directly under the central government, and 2 049 questionnaires were effectively received with effective recovery of 99.56%.The correct answers to questions related to the treatment of MH, characteristics of the disease, classification, susceptible population, screening method of the susceptible population, genetic mode, inducing factors, the first symptoms and the best infusion time of dantrolene, preparation method of domestic dantrolene and the first dose were 86.58%, 82.33%, 58.18%, 50.90%, 50.76%, 50.42%, 45.73%, 32.89%, 51.25%, 48.32% and 46.51%, respectively.Only 27.13% of anesthesiology nurses expressed that dantrolene was available in their hospital.The scores of knowledge about MH among anesthesiology nurses in hospitals of province-level municipalities and provincial capital cities were significantly higher than those in other cities ( P<0.001). The scores of knowledge about MH among the anesthesiology nurses in secondary hospitals were significantly higher than those in tertiary hospitals ( P<0.05). There was no significant difference in the scores of knowledge about MH among anesthesiology nurses with different professional titles, educational backgrounds, and working years ( P>0.05). Conclusions:Anesthesiology nurses in mainland China have insufficient awareness of MH.Popularizing the knowledge about MH and strengthening the awareness of MH in medical staff in the department of anesthesiology throughout the country may be of great significance in improving the diagnosis and treatment of MH in China.

8.
Journal of Chinese Physician ; (12): 1445-1448, 2022.
Article in Chinese | WPRIM (Western Pacific) | ID: wpr-956319

ABSTRACT

Objective:To explore the clinical features, diagnosis and treatment of febrile infection-related epilepsy syndrome (FIRES).Methods:The clinical data of 2 cases of FIRES admitted to Changde First People′s Hospital from 2020 to 2022 were retrospectively analyzed, and the clinical characteristics, diagnosis and treatment methods and prognosis of the disease were discussed in combination with relevant literature.Results:Two children with FIRES were all acute onset, with fever as the first symptom, and status epilepticus appeared 3 to 5 days later. The efficacy of various antiepileptic drugs was poor. After ketogenic diet treatment, one child recovered well, and another child still had frequent convulsions under ventilator assisted breathing on the 27th day of admission. His family signed to give up the treatment. At the same time, compared with the domestic and foreign literature, the clinical characteristics of the two children are basically the same as those of the reported cases.Conclusions:FIRES is common in healthy children in the past. After seizures, it rapidly progresses to status epilepticus. MRI of the head and cerebrospinal fluid can have no characteristic changes. The effect of routine antiepileptic drugs is not good. Ketogenic diet can improve the condition of children, but the overall prognosis is not good.

9.
Preprint in English | medRxiv | ID: ppmedrxiv-20060335

ABSTRACT

ObjectiveWe aimed to investigate clinical features and management of 55 COVID-19 patients in Wuxi, especially severe COVID-19. MethodsEpidemiological, demographic, clinical, laboratory, imaging, treatment, and outcome data of patients were collected. Follow-up lasted until April 6, 2020. ResultsAll 55 patients included 47 (85.5%) non-severe patients and 8 (14.5%) severe patients. Common comorbidities were hypertension and diabetes. Common symptoms were fever, cough and sputum. Lymphopenia was a common laboratory finding, and ground-glass opacity was a common chest CT feature. All patients received antiviral therapy of -interferon inhalation and lopinavir-ritonavir tablets. Common complications included acute liver injury and respiratory failure. All patients were discharged. No death was occurred and no medical staff got infected. Patients with severe COVID-19 showed significantly older age, decreased lymphocytes, increased C reactive protein, and higher frequency of bilateral lung infiltration compared to non-severe patients. Significantly more treatments including antibiotic therapy and mechanical ventilation, longer hospitalization stay and higher cost were shown on severe patients. ConclusionsOur study suggested that patients with severe COVID-19 may be more likely to have an older age, present with lymphopenia and bilateral lung infiltration, receive multiple treatments and stay longer in hospital.

10.
Chinese Journal of Urology ; (12): 741-745, 2020.
Article in Chinese | WPRIM (Western Pacific) | ID: wpr-869747

ABSTRACT

Objectives:To summarize the experience of treatment of 23 cases of urachal carcinoma in order to improve the diagnosis and treatment of urachal carcinoma.Methods:Clinical data of a total of 23 patients with urachal carcinoma from January 2014 to August 2019, including 19 males and 4 females, with a median age of 53 years (34 to 84 years) were retrospectively analyzed. The most common symptom was painless gross hematuria (20/23, 87.0%). All patients underwent CT examination before operation. Three of them had calcification (13.0%), and the median maximum diameter was 3.5 cm (2.0-7.0 cm). Preoperative cystoscopy revealed 23 cases of anterior or parietal mass of the bladder. Partial cystectomy and urachectomy were performed in 17 cases, partial cystectomy plus urachectomy (including umbilectomy) were performed in 5 cases, and total cystectomy were performed in 1 case. Eleven patients (47.8%) underwent pelvic lymph node dissection. Twenty-one cases (91.3%) had Sheldon stage Ⅲ or above tumors.Results:There were 21 cases of urachal adenocarcinoma and 2 cases of transitional cell carcinoma with adenoid differentiation. Five patients underwent adjuvant therapy (21.7%), including 1 patient of 5-fluorouracil (5-fu)+ cisplatin, two patients of gemcitabine+ cisplatin, and one patient of gemcitabine+ cisplatin+ vascular endothelial inhibitor. One case underwent local pelvic radiotherapy alone. No recurrence or metastasis occurred during the follow-up period. All patients were followed up for 38 months (2 to 68 months). A total of 3 patients developed distant metastasis and died during follow-up. The death occurred at 15 months, 40 months, and 49 months after surgery, all of which were caused by tumor metastasis. Two other patients had recurrence at 9 and 13 months after surgery, respectively, and they were followed up for 55 and 25 months after recurrence. Survival analysis showed that the 2-year cancer-specific survival rate was 94.1%, and the 5-year cancer-specific survival rate was 74.9%.Conclusions:Early diagnosis of urachal cancer is difficult. Emphasizing the examination of the urachus during physical examination may help early detection. Surgery-based comprehensive treatment can achieve good tumor control for localized umbilical carcinoma. The accurate pathological staging through pelvic lymph node dissection and the early postoperative adjuvant therapy may improve the prognosis of the patients.

11.
Article in Chinese | WPRIM (Western Pacific) | ID: wpr-865787

ABSTRACT

Residency training is an indispensable part in the standardized training system of residents. The anesthesiology department of Peking University Third hospital launched the tutorial system in this residency training project as an initial exploration. Our study explored the concrete way of implementation of the tutorial system in the residency training program, including clarifying selection of the tutor, teachers' responsibilities, requirements for the residency, training contents and ways. Preliminary practice shows that tutorial system can enhance responsibilities of teachers, sense of belong of residents, and the quality of training.

12.
China Pharmacy ; (12): 999-999, 2019.
Article in Chinese | WPRIM (Western Pacific) | ID: wpr-817030

ABSTRACT

OBJECTIVE: To analyze the characteristics of pregnancy medication in obstetric patients of our hospital, and to provide reference for promoting rational drug use in obstetric department. METHODS: Using hospital information system, 30 prescriptions of women who produced in our hospital were randomly selected monthly from Jan. 2015 to 30th, 2017. The modes of production and pregnancy outcomes were recorded. The drugs used during pregnancy in our hospital were summarized. Statistical analysis was made on the number of cases, varieties and frequency of drug use in neonatal outcomes and different stages of pregnancy. The rationality of drug use in different stages of pregnancy was evaluated. RESULTS: Totally 1 076 valid prescriptions were collected, including 528, 343 and 205 cases aged 21-30, 31-34, 35 and above, 462 cases with cesarean and 614 patients with spontaneous labor, 1 041 cases with single fetus and 35 cases with twins, 1 089 neonates with APGAR score of 8-10,20 neonates with 4-7,and 2 neonates with 0-3, 96 neonates with low birth weight and 4 neonates with abnormal. The rate of drug use during pregnancy was as high as 96.65% (1 040/1 076). The utilization rate of drugs were 55.19% (574/1 040), 99.42% (1 034/  1 040) and 57.98% (603/1 040) in the first, second and third trimesters of pregnancy, involving 137 drugs. Classification of top 3 drugs in the list of frequency were drugs for digestive tract and metabolic diseases for Fuzheng agent (Chinese patent medicine) and for sex hormones and regulators of reproductive system in the first trimesters of pregnancy, and for digestive tract and metabolism, urinary and reproductive system and cardiovascular system in the second trimesters, for digestive tract and metabolism, blood and hematopoietic organs and systemic hormones except sex hormones and insulin in the third trimesters. There were unreasonable use of drugs in the first trimester and there were also abnormalities outcomes of birth, but the correlation between abnormalities and drugs used during pregnancy could not be determined in the study. CONCLUSIONS: The rate of drugs used during pregnancy was high, and the value of DDDs was highest in the second trimester; the types of drugs used in different periods basically accord with the epidemiological characteristics of pregnancy. However, there are some unreasonable medication problems and potential safety hazards in medication during pregnancy, which need to be further rectified. The correlation between adverse pregnancy outcomes and drugs used during pregnancy has not been determined, and needs to be studied with large sample data.

13.
Article in Chinese | WPRIM (Western Pacific) | ID: wpr-796987

ABSTRACT

Objective@#To explore the relationship of discrimination perception and social anxiety of the left-behind children, focusing on the moderating effect of trait gratitude.@*Methods@#Totally 588 left-behind children were investigated with discrimination perception questionnaire, gratitude questionnaire and Liebowitz social anxiety questionnaire. Data were analyzed by independent t test, correlation analysis and regression analysis.@*Results@#There was a significant difference in group discrimination between the only child (2.11±0.98) and the non-only child (2.28±0.93) (t=-2.11, P<0.05). Correlation analysis showed that trait gratitude (4.93±0.89) was negatively correlated with individual discrimination (2.53±1.03) and group discrimination (2.22±0.95) (r=-0.55, r=-0.56, both P< 0.05), furtherly negatively correlated with fear of negation (0.85±0.47) and social avoidance (0.81±0.53) dimensions of social anxiety (r=-0.47, r=-0.48, both P<0.05). Additionally, discrimination perception was positively correlated with social anxiety (r=0.61, P<0.05). Regression analysis showed that discrimination perception could significantly predict social anxiety (β=0.44, P<0.01), and trait gratitude could significantly moderate this effect (β=-0.75, P<0.01).@*Conclusion@#Discrimination perception can positively predict social anxiety, and trait gratitude can moderate this effect.

14.
Article in Chinese | WPRIM (Western Pacific) | ID: wpr-791126

ABSTRACT

Objective To explore the relationship of discrimination perception and social anxiety of the left-behind children,focusing on the moderating effect of trait gratitude. Methods Totally 588 left-be-hind children were investigated with discrimination perception questionnaire, gratitude questionnaire and Liebowitz social anxiety questionnaire. Data were analyzed by independent t test,correlation analysis and re-gression analysis. Results There was a significant difference in group discrimination between the only child (2. 11±0. 98) and the non-only child (2. 28±0. 93) (t=-2. 11,P<0. 05). Correlation analysis showed that trait gratitude (4. 93± 0. 89) was negatively correlated with individual discrimination ( 2. 53 ± 1. 03) and group discrimination (2. 22±0. 95) (r=-0. 55,r=-0. 56,both P< 0. 05),furtherly negatively correlated with fear of negation (0. 85±0. 47) and social avoidance (0. 81±0. 53) dimensions of social anxiety ( r=-0. 47,r=-0. 48,both P<0. 05). Additionally,discrimination perception was positively correlated with so-cial anxiety (r=0. 61,P<0. 05). Regression analysis showed that discrimination perception could significant-ly predict social anxiety (β=0. 44,P<0. 01),and trait gratitude could significantly moderate this effect (β=-0. 75,P<0. 01). Conclusion Discrimination perception can positively predict social anxiety,and trait gratitude can moderate this effect.

15.
Article in Chinese | WPRIM (Western Pacific) | ID: wpr-712161

ABSTRACT

Objective To identify the pathogenesis gene mutation of a pedigree with Cockayne syndrome.Methods The peripheral blood samples of the patient and his family members were collected and the genomic DNA was then extracted.Whole exome sequencing(WES)was performed for proband′s DNA.The disease-causing mutations were identified by bioinformatics analysis and pedigree analysis. Meanwhile,the mutations were confirmed by Sanger sequencing.Results Two novel mutations in ERCC8 gene,including c.400-2A >G and c.394_398delATGTA(p.L132fs)were identified in proband.The splicing mutation originated from his father and changed the splice acceptor site AG to GG, thus possibly caused alternative splicing.The c.394_398delATGTA(p.L132fs)frameshifting mutation was inherited from his mother.The proband′s sister also carried the same compound heterozygous mutation and had the same phenotype as proband.Conclusion The pathogenesis ERCC8 gene mutation of this pedigree with Cockayne syndrome was identified by using whole exome sequencing.

16.
Article in Chinese | WPRIM (Western Pacific) | ID: wpr-692228

ABSTRACT

OBJECTIVE To study the job burnout condition for the patients with obstructive sleep apnea hypopnea syndrome(OSAHS). METHODS Selected 92 OSAHS patients from the No.4 West China Teaching Hospital, Sichuan University, during Mar.2016 to Mar.2017. At the same time selected 85 subjects without OSAHS as none OSAHS group. Both of them completed the Epworth sleeping scale(ESS) and the Maslach Burnout Inventory-General Survey(MBI-GS). RESULTS 1. In terms of emotional exhaustion, the score of severe-OSAHS group(9.83±6.48) and moderate-OSAHS group(9.8±76.53) were higher than none OSAHS group(6.79±4.39), the difference were statistically significant(P<0.05); 2. In terms of reduced personal accomplishment, the score of severe-OSAHS group(26.00±7.54) was higher than none OSAHS group(22.25±8.33), the difference were statistically significant(P<0.05); 3. In terms of emotional exhaustion, the score of the severe daytime sleepiness group(13.09±6.95) were higher than the none daytime sleepiness group(7.03 ± 5.03), the difference were statistically significant(P<0.05). CONCLUSION With the development of the severity of the OSAHS, the score of emotional exhaustion, reduced personal accomplishment, and the total score of burnout inventory all gets higher, the working ability get descend.

17.
Chongqing Medicine ; (36): 923-925, 2018.
Article in Chinese | WPRIM (Western Pacific) | ID: wpr-691888

ABSTRACT

Objective To evaluate the therapeutic effect and safety of bilirubin absorption(BA) combined with low volume plasma exchange(PE) in the treatment of severe hepatitis.Methods Forty-five inpatients with severe hepatitis in this hospital from January 1,2015 to December 31,2016 were performed the prospective study.All cases were given the therapy of BA combined with low volume PE.The indicators of liver function (ALT,AST,TBIL,CHE,ALB),coagulation function (PTA,INR),blood routine (WBC,Hb,PLT),electrolytes(K+,Na+,Cl-,Ca2+) and renal function(BUN,Cr) were collected before and after treatment.The changes of clinical symptoms and signs(weak,anorexia,abdominal distension,etc.) before and after treatment were recorded in all cases.The complications during the treatment process were also observed and recorded.The t-test was used for the inter-group comparison of the measurement data and the abnormal distribution adopted the Wilcoxon rank sum test.Results After the treatment of BA and low volume PE,the clinical symptoms of the patients were improved in different levels.The levels of ALT,AST and TBIL were decreased(P<0.01),the CHE level was increased(P<0.01),ALB level was decreased(P<0.01);PTA was increased(P<0.05),INR was decreased(P<0.01);WBC,HGB and PLT were decreased(P<0.05).Nineteen cases(31.1%) developed adverse reactions,which were recovered to normal after general symptomatic treatment.The treatment compliance was good without influence on artificial liver therapy.Conclusion BA combined low volume PE for treating severe hepatitis can significantly improve the liver function with safety and effectiveness.

18.
Article in Chinese | WPRIM (Western Pacific) | ID: wpr-688242

ABSTRACT

<p><b>OBJECTIVE</b>To explore the cause of failure of non-invasive prenatal testing (NIPT) using cell-free fetal DNA from peripheral maternal blood.</p><p><b>METHODS</b>A total of 31 832 cases of NIPT were retrospectively analyzed. The clinical data of pregnant women were analyzed and the outcome of pregnancy was followed up.</p><p><b>RESULTS</b>Among the 31 832 cases, 200 patients have failed for the first NIPT test. Second test has succeeded in 171 (85.9%) of 199 cases, while 28 cases (14.1%) still yielded no effective results. This gave rise for a total failure rate of 0.088%. Of the 28 cases, 11 (39.2%) were due to high content of total free DNA and could not be sequenced, 17 (60.7%) were found to have the fetal DNA content of less than 4%. Among the 171 cases which have obtained a valid result, NIPT showed that there were 4 patients with high risk of trisomy 21, 18 cases with high risk of 18 trisomy and 1 case with high risk of 13 trisomy. Karyotyping analysis of the amniocytic chromosomes has identified 3 cases with 47,XN,+21, 1 case with 46,XN,rob(21;21), 1 case with 47,XN,+18, while the 13 trisomy case was found to be false positive. For the 28 cases with failed NIPT retest, 14 had normal delivery, with no anomaly noticed in the neonates. Nine patients had opted for artificial abortion during middle or late pregnancy due to maternal factors (4 cases) or fetal factors (5 cases). Four patients developed complications of pregnancy. One case was in good condition upon follow-up. Four cases were lost during follow-up. Of the 11 pregnant women who had failed the NIPT test due to high content of total free DNA, 6 (54.5%) had opted for artificial abortion during midterm pregnancy, which was significantly higher than that of pregnant women with low free DNA content (17.6%).</p><p><b>CONCLUSION</b>Failure of NIPT testing should attract attention from researchers. Failure of single NIPT test should not be regarded as a high risk signal for fetal chromosomal aneuploidies. For those where the test has failed again, genetic counseling and strengthened perinatal care should be provided for the pregnant women.</p>

19.
Article in Chinese | WPRIM (Western Pacific) | ID: wpr-668991

ABSTRACT

Objective To explore the optimal delay time of enhanced scanning with CT based simulation before cyberknife treatment of carcinoma in different positions of the pancreas.Methods Philips 16 large aperture spiral CT scan was applied.Fifty-three patients with carcinoma in the head of the pancreas and 60 pancreatic cancer patients in the body or tail were randomly assigned to three groups with scan delays of 25,45,and 65 seconds in group A (25s group,pancreatic head n =18,pancreatic body or tail n =21);30,50,and 70 seconds in group B (3 0s,pancreatic head n =17,pancreatic body or tail n =19);and 35,55,and 70 seconds in group C (35s,pancreatic head n =18,pancreatic body or tail n =20),respectively.Images were evaluated by three associate professors of radiation oncology based on image quality score scale.The items rating in different time points were compared using a random intercept model of mathematical mean in three groups.Then the items rating of different time points were compared in pairs using the Sidak method.One-way ANOVA was used to compare the optimal time point of each group,so the optimal delay time of enhanced scanning with CT based simulation before cyberknife treatment of pancreatic cancer was obtained.Results The delayed time points with the highest scores for target delineation of the tumor in the pancreatic head and the pancreatic body or tail by CT enhanced scanning in three groups were 45 s/65 s,50 s/50 s,55 s/75 s,respectively.There was no significant difference in the scan time of 45 s,50 s and 55 s for the tumor in the pancreatic head.Similarly,no significant difference could be found in the scan time of 65 s,50 s and 75 s for the tumor in the pancreatic body and tail.Conclusions The recommended delay time interval for localizing the tumor in pancreatic head by CT enhanced scanning was 45 ~ 55 s,and for the tumor in the pancreatic body or tail was 50 ~75 s.

20.
Article in Chinese | WPRIM (Western Pacific) | ID: wpr-621003

ABSTRACT

Objective To assess the optimal delay time of enhanced scanning with CT-based simulation before cyberknife treatment for pancreatic cancer and to analyze the correlations between the target delineation and the rating items.Methods One hundred and twenty pancreatic cancer patients underwent Philips 16 big core spiral CT before cyberknife treatment.Patients were assigned to three groups randomly with scan delays of 25,45 and 65 s;30,50 and 70 s;and 35,55 and 75 s respectively.After the scanning,the images were evaluated by three associate professors in the field of radiation oncology.To achieve the optimal delay time,the data were compared with a random intercept model of mathematical mean,the Sidak method and One-way ANOVA.Pearson method was used to analyze the correlations between the target delineation and the rating items.Results The tumor boundaries,retroperitoneal lymph nodes,duodenal images,accuracy of target volume delineations in 45 and 65 s,50 and 70 s,55 and 75 s items rating difference had no statistically significant differences (P > 0.05),but significantly superior to those in 25,30,35 s groups respectively(t =3.59-21.68,13.34-15.46,12.42-13.83,P <0.05).Therefore,the proposed delay time interval was 50-65 s,and the average value of the target volume delineation was the highest in 55 s group (3.91-± 0.50).When the scan delay time was 55 s,the target delineation was positively correlated with the tumor boundary (r =0.914 4,P < 0.05),and negatively related to the value of other imaging (r =-0.926 3,P < 0.05).Conclusions The recommended delay time interval of pancreatic cancer before cyberknife treatment CT enhanced scanning was 50-65 s,and the optimal time point was 55 s.The target volume delineation was positively correlated with the boundary of the tumor,and significant negatively related to the value of other imaging.

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