Objective To analyze the quality control measures on urinary fluoride testing in the implementation,and to provide experience in quality control for testing activities.Method According to the Determination of Fluoride in Urine-Ion Selective Electrode Method (WS/T 89-1996),focusing on ways to complete testing all the samples in a short time,implementing internal quality control measures in the testing before,during and after the implementation by different ways as blank experiment,standard substance detection,personnel parallel experiment,paralleled detection,instrument comparison and sample test repeat,were carried out.Results The test results of blank experiment were lower than the lowest detection limit;the test results of standard material were within the scope of the standard reference,there was no significant difference between the mean value and the reference value (t =0.01,0.00,0.02,all P ＞ 0.05),|Z| values were all less than 1;the results of personnel parallel experiment,paralleled detection,instrument comparison test results and sample test repeat were not significantly different statistically (all P ＞ 0.05);the results of instrument comparison and sample test repeat were not significantly different statistically (t =0.129,0.034,all P ＞ 0.05).A total of 9 123 urine samples were tested,the geometric mean of urinery fluoride was 0.58 mg/L.Conclusion Different quality control measures should be implemented through all the testing,control personnel errors,instruments,and reagents,etc,to ensure the quality of the entire test results.

Objective To apply hydride generation atomic fluorescence spectrophotometry (HG-AFS method) in urinary arsenic detection,and to provide a better,newer and more convenient detection method for quantitative analysis of urinary arsenic.Methods According to the Guide to Develop Biological Sample Inspection Method(WS/T 68-1996) and Guide for Establishing Occupational Health Standards-part 5:Determination Methods in Biological Materials (GB/T 210.5-2008),HG-AFS method was established to detect arsenic content in urine after modification of the method for sample pretreatment,and to verify the linear range of standard curve and linearity,detection limit,precision,accuracy,stability of the sample,and to compare the experimental results of HG-AFS method with those of standard methods of WS/T 28-1996 and Determination of Arsenic in Urine by Cyanide Generation Atomic Fluorescence Method (WS/T 474-2015).Results The HG-AFS method linear range was from 0-100 μg/L,the correlation coefficient r =0.999 9,the detection limit was 0.07 μg/L,the precision was 1.96％-3.97％,and the recovery rate was 95.1％-105.0％.There was no statistical significance between HG-AFS method,the standard of WS/T 28-1996 or WS/T 474-2015 methods (t =1.539,0.353,all P ＞ 0.05).Conclusion The new method is superior to the current detection method owing to its low detection limit,high precision,good accuracy,and wide linear range.

Objective To develop a duplex fluorescence RT-PCR assay for detection of scavenger receptor class B, typeⅠ(SRBⅠ) knockout mice. Methods Primers and probes were designed according to knockout region of SRBⅠgene and related substituted sequence. DNA samples were extracted from tails of mice and performed amplification using real-time PCR. SRBⅠgenotypes of mice were analyzed according to amplification curves of FAM and CY5 channels. Finally, the sensitivity of the method was detected and the accuracy was verified by the direct sequencing. Results The homozygous SRBⅠwild genotype showed an amplification curve only in FAM channel. When the homozygous SRBⅠknockout genotype was present, the typical S amplification curve appeared only in the CY5 channel. Heterozygous genotype showed two typical S amplification curves in both FAM and CY5 channels, respectively. The results showed that the sensitivity reached 4×101 copies/μL, and there was complete concordance between this method and direct DNA sequencing. Conclusion The new method is simple, rapid and accurate, which is suitable for genotyping SRBⅠknockout mice.

Objective To assess the efficiency of an iontophoresis-based screening method (EZSCAN) in the detection of impaired glucose tolerance (IGT),diabetes mellitus (DM) and metabolic syndrome (MS).Methods A total of 166 subjects without medical history of dysglycaemia underwent fasting plasma glucose (FPG) and HbA1c measurement and oral glucose tolerance test (OGTT) by using traditional or EZSCAN method.Variance analysis (GLM),SNK analysis,logistic regression analysis,and ROC analysis were used to evaluate the diagnostic value of those screening techniques.Results DM,IGT,normal glucose tolerance (NGT) +MS,and NGT were found in 4,26,25 or 111 participants,respectively.For traditional test,FPG of 7.0 mmol/L showed a lower sensitivity to detect DM (0%).The sensitivity of EZSCAN to detect DM,IGT or MS was 50%,77% and 64%,respectively.Conclusions FPG may have lower sensitivity to detect DM,although EZSCAN could show higher sensitivity to detect IGT,DM,and MS.

Objective To evaluate the predictive effect of Braden scale for the risk of development of pressure ulcers (PU) in the department of neurology bedridden patients and to explore subgroup preventive measures. Methods 400 cases newly hospitalized bedridden patients in the department of neurology were collected with no pressure ulcers at the first evaluation and pressure ulcer risk was continuously predicted by a Braden scale skin assessment. The high-risk, middle-risk and low-risk groups were randomized into the experimental group and the control group respectively. Routine preventive measures were taken for the control group while the air fluidized bed for the high-risk group, the sponge mattress for the middle-riskgroup, and turning the body over every 4 hours for low-risk group. Other preventive procedures were undertaken simultaneously in beth the experimental and the control groups. Results The area under the ROC curve (AUC)was 0.771 and 0.828 at the first and last time Braden scale scores respectively. Such vMues as sensitiveness, specificity, positive predictive value, negative predictive value were found in higher level,when the diagnosis value was 17. There was no significant difference of incidence rate of the subgroup pressure ulcers between the high-risk, middle-risk, low-risk groups compared to the control group. Conclusions The effect of predicting pressure ulcer risk for bedridden patients in the department of neurology with Braden scale was fairly good, while the score 17 as the diagnosis value was ideal. The air fluidized bed for the high-risk group and the sponge mattress for the middle-risk group resulted in no significant decrease of incidence rate of the pressure ulcer, while taming over the patients' body every 4 hours for low-risk groups showed acceptable and therefore saving medical resources.

Objective To investigate the relationship of lower urinary tract symptoms (LUTS)with ageing in elderly population of Beijing. Methods From January 2010 to July 2010, the males over 40 years of age, who came to take routine health examination in Beijing Hospital, received a questionnaire related to urinary symptoms. Eligible men were classified into age groups spanning 10 years, and the urinary symptoms of each group were analyzed. Results Among the 2357 males who were investigated, the incidence of urinary symptoms increased, and the satisfaction of urinate decreased with ageing. In 40-49 age group, 44.94 % of males owned at least one urinary symptom and 71.47% of males were satisfied with their symptoms. In over-80 age group, these figures were 94.97% and 27.67%, respectively. Each symptom was associated with the satisfaction. Nocturia was the commonest symptom in each age group. Conclusions LUTS are common in elderly males and the incidence increases with ageing. Nocturia is the commonest symptom in elderly males.

Obiective:To elucidate the phenotype and the genotype-phenotype correlations in Chinese patients with X-linked adrenoleukodystrophy(X-ALD).Methods:Clinical features of 40 Chinese patients with X-ALD were studied and mutation spectrums were investigated by polymerase chain reaction (PCR) and sequencing. Results:Among these patients, four were siblings from two unrelated families, the others were unrelated. There were 31 cases with childhood cerebral (CCALD), 8 cases with adolescent cerebral (ACALD) and 1 case with adrenomyeloneuropathy (AMN). Visual impairment, which presented in 12 cases (30%), was the most common initial symptom. Nine (69%) of 13 cases who had hydrocortisone and ACTH measured showed adrenal insufficiency. By follow-up date, 19 cases (47.5%) were dead. The interval from onset to death varied from 1 to 6 years and the average were 3.3 years. The mean age at death was 10.5 years. Eleven cases (27.5%) were in vegetable state. The mean interval from onset to apparently vegetable state was 2.8 years (range from 1 to 6 years). Four cases had progressive neurological disability. Four cases were lost follow-up. One case with CCALD and one case with ACALD progressed slowly. The courses of the disease of these two patients were 5 years and 15 years respectively. Thirty five mutations were identified in 40 cases. Most were located within exon 1-3 (40%, 16/40) and exon 6-8 (42%, 17/40). There is a distinct clustering of missense mutations in exon 6 (17%, 7/40). Five types of mutations were associated with CCALD, three with ACALD and a missense mutation was identified in the patients with AMN. The two patients with long disease courses had a missence mutation c.1559 T>A and a nonsense mutation c.1785 G>A respectively. The siblings with similar manifestations and onset age were observed in two families, whose mutations were c.887 A>G and c.1028 G>T. Conclusion:The phenotypes, disease severity and rate of neurodegeneration could not be predicted by the nature of mutations.

Objective: To investigate the genotype and phenotype of children with KCNA2 gene related developmental and epileptic encephalopathy (DEE). Methods: Clinical data including the manifestations and electroencephalogram of 8 children with KCNA2 variants treated in the Department of Pediatrics, Peking University First Hospital from March 2017 to June 2019 were collected and analyzed retrospectively. Results: Among the 8 epileptic patients with KCNA2 variants, 5 were males and 3 were females. The age of onset was from 1 day to 11 months. The age at last follow-up ranged from 4 months to 86 months. Two variants including c.1214C>T (loss-of-function) and c.1120A>G (gain-and loss-of-function) were identified. The variant of c.1214C>T was found in six patients (case 1-6). For these patients, the age of onset was from 5 to 11 months and they were characterized by multiple seizure types. All had focal seizures and had normal development before seizure onset with developmental regression after seizure onset. The first electroencephalogram showed epileptic discharges in Rolandic region in two, epileptic discharges in Rolandic region combined with generalized discharge in one, generalized discharge with posterior predominance in two (combined with or transferred to Rolandic region during the course) and epileptic discharges in posterior region combined with generalized discharge in one. And in 5 of them the Rolandic discharges developed into epileptic electrical status (ESES) during sleep. All the six patients were still treated with a combination of multiple antiepileptic drugs. Two of them had seizure controlled at 80 months and 68 months, respectively. The variant of c.1120A>G were identified in two of eight patients (case 7 and 8) and they had seizure onset on the 1st day after birth. Their epileptic seizures were frequent and difficult to control. They had remarkably developmental delay and microcephaly since birth. One case (case 8) had a wide forehead. They had frequent seizures up to the last follow-up. In case 7, the early electroencephalogram showed epileptic discharges in temporal region, and interictal electroencephalogram at 3 months of age showed multifocal discharge with posterior and temporal region predominance. In case 8, the early electroencephalogram was normal and electroencephalogram showed burst suppression at 2 months of age, and it developed epileptiform discharge in posterior region at 1 year of age. Conclusions KCNA2 gene variants can lead to DEE with multiple seizures types. Among them, loss-of-function c.1214C>T is the most common, and these patients have seizure onset at infancy with Rolandic discharges tended to develop into to ESES pattern. The variant of c.1120A>G is a gain-of- and loss-of-function variant, patients with c.1120A>G have seizure onset in neonatal period, the phenotype overlaps with the former but is more severe.

China ; Humans ; Neurology ; Pediatrics

Objective:To analyze the clinical phenotype and genetic characteristics of children with germline PIGA gene mutations. Methods:The clinical presentations, blood biochemistry, electroencephalogram (EEG), brain magnetic resonance imaging (MRI) and genetic test results of 10 children diagnosed at the Department of Pediatrics of Peking University First Hospital between January 2014 and June 2020 were analyzed.Results:All these 10 children were male, with seizures and severe developmental delay.Five out of eight cases showed hypotonia.Four out of nine cases had facial deformity or multiple organ abnormalities.The onset age of seizures ranged from one month and 28 days to 10 months, with an average age of 4.8 months.There were various types of seizures, and all patients showed focal seizures.The seizures of 6 patients in these 10 cases could be induced by fever disease.Diffuse slow waves mixed focal or multifocal discharges of interictal EEG in 9 cases with PIGA-deficient.Brain MRI showed enlarged subarachnoid space in 44.4% (4/9 cases) of patients.Slight elevated serum alkaline phosphatase could be seen in 2 cases.Genetic analysis confirmed that a total of 8 different mutation sites were found, 7 of which were unreported.In this group, 4 cases were diagnosed with multiple congenital anomalies -hypotonia -seizures syndrome 2 (MCAHS2), 5 cases were diagnosed with developmental delay and epilepsy without deformity, and one case was not classified, respectively. Conclusions:Focal seizure was common in these patients with PIGA mutations, and often induced by fever disease.Interictal EEG was characterized by diffuse slow waves mixed focal or multifocal discharges.Enlarged subarachnoid space was the most common brain MRI abnormality in these patients.The phenotype of patients only partially conformed to typical MCAHS2 manifestations, and most of them had no deformity.