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The basic information and clinical data of 4 Phelan-McDermid syndrome (PMS) patients in the Pediatric Outpatient Department of the Peking University First Hospital from January 2014 to October 2019 were retrospectively analyzed.Genetic diagnoses were performed using the whole exon sequencing assay.The genotype-phenotype correlation analysis was then performed.All patients presented with intellectual disability/developmental delay, especially the most-common manifestation in language disability.Patient 2 had an autism behavior.Four novel variations of the SHANK3 gene were found in this study, including the c. 2861delC p. (S955Pfs*109), c.3166delC p. (A1039Afs*39), c.3711_3723delGCCCAGCCCCCGG p. (L1241Lfs*29) and c. 2223+ 1G>A.All of them were analyzed as new pathogenic variations according to the American College of Medical Genetics and Genomics criteria.The present study expan-ded the mutant spectrum of the SHANK3 gene, which provided a basis for further accurate genetic counseling and prenatal diagnosis of PMS.
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OBJECTIVE: To establish a method for detecting hydrazine in the air of workplace by high performance liquid chromatography with benzaldehyde derivatization. METHODS: The air samples were collected by glass fiber filter impregnated with sulfuric acid solution and desorbed by sodium dihydrogen phosphate-ethylenediamine tetraacetic acid disodium salt buffer solution. Desorption solution was derived from 1.00% benzaldehyde-acetonitrile solution, then separated by C18 liquid chromatographic column and detected by diode array detector. RESULTS: The linearity range of hydrazine mass was 12.50-150.00 μg, and the correlation coefficient was 0.999 7. The average elution efficiency of hydrazine was 89.28%-95.52%. The within-run and the between-run relative standard deviation were 1.09%-1.86% and 3.63%-4.00% respectively. The samples could be stored at 4 ℃ in a refrigerator for at least 25 days. CONCLUSION: This method has high sensitivity, precision and simple sample preparation. It can be used for detecting hydrazine in the air of workplace.
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Objective@#To development of ethylene glycol samples in silicone tubes, and the samples were applied to inter-laboratory comparison, through it to evaluate the detection capacity of occupational health testing laboratories.@*Methods@#Three content levels of ethylene glycol samples in silicone tubes were prepared, and the homogeneity and stability of samples were investigated, the results were statistically analyzed. A robust statistical four-point distance method was used to calculate the results submitted by each participant laboratory and the test capability of the laboratory was assessed by the z-score method.@*Results@#The statistic of the homogeneity of ethylene glycol samples in silicone tubes were less than the critical value (P>0.05) , and the samples were stable at room temperature for one month. The satisfactory rate of comparison between 204 laboratories was 88.24%.@*Conclusion@#The homogeneity and stability of the ethylene glycol samples in the silicone tubes can meet the requirements of proficiency testing and can be used for laboratory comparison. Most of the laboratories that participated in the comparison had the ability to detect ethylene glycol.
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Objective@#To establish the method for determination of tungsten and insoluble compounds in the air of workplace by inductively coupled plasma optical emission spectrometry (ICP-OES) .@*Methods@#The tungsten and insoluble compounds were digested by microwave digestion apparatus using nitric acid and hydrofluoric acid, detected by ICP-OES.@*Results@#The linearity of tungsten and insoluble compounds (as tungsten) were good at the range of 0.16-100.0 μg/ml, the minimum quantitation concentration was 0.11 mg/m3, the recovery was ranged from 81.9%-97.1%, the RSD of intra-and inter-batch precision were 0.5%-2.5% and 1.2%-4.4%, respectively.@*Conclusion@#The determination method meet the requirement of analysis and apply to the determination of tungsten and insoluble compounds in the air of workplace.
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Objective@#To discuss calculation method of detection limit and quantitative limit of occupational health biological monitoring.@*Methods@#The detection limit and the quantitative limit of phenyl glyoxylic acid and Mandelic acid were calculated by using three different methods of IUPAC, NIOSH and OSHA respectively.@*Results@#The IUPAC, NIOSH and OSHA methods were used to calculate the detection limit and the quantitative limit of the phenyl glyoxylic acid and Mandelic acid, and the results are different.@*Conclusion@#To calculate the detection limit and quantitative limit of occupational health biological monitoring methods, the standard curve method is adopted to ensure that the rate of detection in the vicinity of detection limit and more than 75% of the quantitative limits are used.
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Objective@#To optimize the ion selective electrode method of measuring urinary fluorine in WS/T 30-1996.@*Methods@#The volume of 5 mol/L NaOH solution was fixed to confect the TISAB buffer solution. The samples were prepared by mixing 5 ml urine and equal volume of TISAB solution. Fluorine electrode and calomel electrode was used to test. When the potential value changed less than ±0.5 mV in one minute, it could be recorded. The standard curve method was selected as a quantitive method.@*Results@#The linear range of this method was 0.07~50.0 mg/L, E=238.96-57.50lgC, r=0.999 8. The LOD and LOQ were 0.02 mg/L and 0.07 mg/L (with 5 ml urine) , respectively. The RSD of intra -and inter-batch precision were 0.80%~2.82% and 2.17%~2.86%, respectively. The recovery rate was 102%~107%. The urine sample could be preserved stably for 14 days at room temperature, and for 30 days at 4 ℃ and -20 ℃.@*Conclusion@#In this method, the preparation process of TISAB buffer solution was simplified, and the linear range was expanded. It could meet the needs of occupational population detection.
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Objective@#Through inter-laboratory comparison to analysis and evaluation of the detection capacity of arsenic in the urine. @*Methods@#Urine arsenic samples were prepared with normal human urine as matrix. The homogeneity of the samples was investigated and the results were statistically analyzed by single factor analysis of variance. 2 samples were issued to each participant laboratory. A robust statistical four-point distance method was used to calculate the results submitted by each participant laboratory and the test capability of the laboratory was assessed by the z-score method. By means of method experiments and records, the reasons of dissatisfaction and the influencing factors of the results were discussed. @*Results@#The statistic of the homogeneity of urine arsenic samples was less than the critical value (P>0.05) , which showed that the arsenic in the sample was homogeneous. The satisfactory rate of comparison between 36 laboratories was 86.1%. The main reasons for dissatisfaction were the testing conditions and the quality control measures. The selection of sample pretreatment, acidity control and hydrogenation conditions was the main influencing factor for the determination of urinary arsenic by atomic fluorescence spectrometry. @*Conclusion@#The level of urinary arsenic detection in the occupational health laboratories was generally better and a few laboratories need to be improved ability of detection. It was very important to control the test conditions reasonably and strengthen the quality control measures to improve the accuracy of urine arsenic detection.
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Objective@#To develop a method for determination of metabolites of diphenylmethane diisocyanate (MDI) in urine, i.e. methylenedianiline (MDA) by high performance liquid chromatography-tandem mass (LC-MS-MS) . @*Methods@#Urine samples were prepared by hydrolyzation with sulfuric acid and extraction by acetonitrile, and then separated on a Shim-pack XR-ODS column, analyzed with high-performance liquid chromatography-tandem mass spectrometry (LC-MS/MS) . The external solvent standard calibration were tested. @*Results@#The linearity ranges were 0.05~20.00 μg/L, The related coefficients were 0.999 5. The limit of detection was 0.02 μg/L. The rats of recovery were 91.0%~103.4%. The relative standard deviations were between 2.7%~7.3%. @*Conclusion@#The method was sensitive, accurate and suitable for the MDA determination in urine of MDI exposed population.
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Objective@#To establish the method for determination of barium sulfate in the air of workplace. @*Methods@#The barium sulfate was collected by dichloride ethylene filter membrane and then processed by alkali fusion method. Inductively coupled plasma optical emission spectrometry (ICP-OES) was used for the detection of barium sulfate. @*Results@#The sampling efficiency was 100%, the linearity of ICP-OES was good at the range of 0.1~100.0 μg/mL, the recovery was ranged from 93.0%~97.8%, the RSD of intra- and inter-batch precision were 3.7%~7.6% and 4.7%~8.8%, respectively. @*Conclusion@#The sampling method and determination method meet the requirements of analysis and apply to the collection and determination of barium sulfate in the air of workplace.
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Objective@#To analyze the results obtained from the proficiency testing program for determination of bovine blood lead and urinary cadmium, so as to evaluate the proficiency of the laboratories, and improve the detection and quality control capability of occapational health laboratory.@*Methods@#Prepared 3 levels of lead samples with bovine blood as base material, taking Technical Norm of Primary Reference Material as Operating standard, 60, 80, 180 μg/L were used as the standard concentration. All samples were made for 200 bottles. Normal urine were used to prepared 3 levels of cadmium samples with 5.0, 7.0, 10.0 μg/L as standard concentration, then 3 level of samples were made for 200 bottles respectively. Blood lead and urinary cadmium samples were sent to each laboratory in the form of sample pairs. One-way ANOVA was used to investigate the homogeneity. The results of each laboratory were statistically analyzed by robust statistical method, and the detection ability of the laboratory was evaluated by the Z ratio score method. By consulting the test reports and original records of each participating laboratory, the reasons for the unsatisfactory results were analyzed.@*Results@#The statistical F of the uniformity of blood lead 1.42, 1.37 and 2.85, F<3.13, P were 0.294, 0.314 and 0.059, respectively in 31 labs. There is no statistical significance in the difference of blood lead (P>0.05). And urine cadmium was less than the critical value (P>0.05). In all, 31 laboratories participated in the test of blood lead, and 28 loboratories paticipated in urine cadmium verification. The statistical F of the uniformity of urinary cadmium 1.90, 1.35 and 1.19, F<3.13. The homogeneity of the samples were in accordance with the requirements of proficiency testing program. The satisfactory rate of the results for blood lead was 84% (26/31) , and the satisfactory rate of urinary cadmium was 93% (26/28) . In the test of blood lead, 21 of the 31 laboratories were controlled by the standard material method. Totally, 20 of them get an satisfactory level, the rate was 95%.@*Conclusion@#Most of the laboratory test results were satisfactory, which showed that the detection capability for blood lead and urine cadmium was good. The main causes of unsatisfactory results were detection methods, tools of quality control ortraceability standards.
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OBJECTIVE: To establish a method for detection of bis(chloromethyl) ether in workplace air using portable gas chromatography-mass spectrometry(GC-MS).METHODS: The sample of bis(chloromethyl) ether in workplace air was collected and detected using the portable GC-MS.The samples were separated by SPB-1 chromatographic column.The mass spectrometry was used for detection,and qualitatively measured by the time and characteristics and quantified by ions peak area.RESULTS: The linear range of bis(chloromethyl) ether was 1.32-66.00 μg/m~3,and the correlation coefficient was 0.999.The detection limit and the lower limit of quantitation were 0.66 and 1.32 μg/m~3 respectively.The spiked recovery for bis(chloromethyl) ether was 96.97%-112.12%.The within-run relative standard deviation(RSD) was6.12%-9.46%.The RSD of different batches samples was 12.31%-19.05%.CONCLUSION: The established GC-MS method for detection of bis(chloromethyl) ether in the air of workplace is of high accuracy and is suitable for rapid qualitative and quantitative detection of bis(chloromethyl) ether in the workplace air.
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Objective@#To revise the standard method for the determination of phenylglyoxylic acid(PGA)and mandelic acid(MA) in urine by ultra-performance liquid chromatography.@*Methods@#The original standard method was evaluated by experiment, and the chromatographic column, the detection limit,quantitation limit and stabilityof the method were studied.@*Results@#The samples were separated by BEH Phenyl(50mm×2.1mm×1.7μm)column and the internal standard working curve method was used. The regression equations were y=3.660 7x+0.066 3 and y=5.161 2x-0.007 3 for MA and PGA respectively. Linear correlation coefficients were 0.999 3 and 0.999 1. Linearity ranges were 0.10-1.00 mg/ml,0.04-0.40 mg/ml. The recoveries of PGA and MA were 91.6%-97.1% and 84.3%-99.0%,the precision were 0.9%-4.6% and 0.5%-1.9%. The detection limit and quantitation limit of the method were 1.1 mg/L and 3.7 mg/L for PGA, 5.4 mg/L and 17.9 mg/L for MA.@*Conclusion@#The method uses the phenyh modified chromatographic column, determines the detection limit. The method can improve quantitation limit, the detection accuracy and meet the detection of occupational population samples.
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Objective@#To establish the inductively coupled plasma optical emission spectrometry (ICP-OES) method for determination of cobalt and tungsten in the air of workplace.@*Methods@#The cobalt and tungsten were collected by filter membrane and then digested by nitric acid, inductively coupled plasma optical emission spectrometry (ICP-OES) was used for the detection of cobalt and tungsten.@*Results@#The linearity of tungsten was good at the range of 0.01-1 000 μg/ml with a correlation coefficient of 0.999 9, the LOD and LOQ were 0.006 7 μg/ml and 0.022 μg/ml, respectively. The recovery was ranged from 98%-101%, the RSD of intra-and inter-batch precision were 1.1%-3.0% and 2.1%-3.8%, respectively. The linearity of cobalt was good at the range of 0.01-100 μg/ml with a correlation coefficient of 0.999 9, the LOD and LOQ were 0.001 2 μg/ml and 0.044 μg/ml, respectively. The recovery was ranged from 95%-97%, the RSD of intra-and inter-batch precision were 1.1%-2.4% and 1.1%-2.9%, respectively. The sampling efficiency of tungsten and cobalt were higher than 94%.@*Conclusion@#The linear range, sensitivity and precision of the method was suitable for the detection of tungsten and cobalt in the air of workplace.
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Objective@#To establish a method to determine fluorine ion in human urine by ion chromatography method.@*Methods@#The samples were centrifuged, diluted and processed by C18 solid-phase column, potassium hydroxide as mobile phase, gradient elution, separated by AS15, and determined by anion conductivity detector.@*Results@#The linear correlation coefficient of fluoride ion in the range of 0.02-10.00 mg/L was more than 0.999. The lowest detection limit of urinary fluoride was 0.06 mg/L (in 3 ml urine) . The recoveries of the method were 96.9%-99.5%, the inter batch precision range was 0.40%-2.89%. The intra batch precision was from 1.01 to 7.23%. Fluoride samples could be stored for 7 days at room temperature and 4 ℃, and be stored for 14 days at -20 ℃.@*Conclusion@#Determination of fluoride in urine by ion chromatography, the method could meet the requirement in GBZ/T 210.5-2008.
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Objective@#To establish the method for determination of titanium dioxide in the air of workplace by inductivehy coupled plasma optical emission spectrometry (ICP-OES) .@*Methods@#The titanium dioxide was collected by filter membrane and then digested by microwave digestion apparatus in the mixed solvents (HNO3∶HF∶H2O=4∶1∶1) , dilutedto 25 ml and detected by ICP-OES.@*Results@#The sampling efficiency was higher than 95%; the linearity of ICP-OES was good at the range of 10-500 μg/ml, the minimum quantitation concentration was 0.72 mg/m3 (as collecting 150 L air sample) , the maximum quantitation concentration was 21.7 mg/m3 (as collecting 960 L air sample) , the recovery was ranged from 99.0%-102.0%, the RSD of intra- and inter-batch precision were 0.5%-3.2% and 1.7%-3.5%, respectively.@*Conclusion@#The sampling method and determination method meet the requirements of guide for establishing occupational health standards-part 4: determinatin methods of air chemicals in workplace (GBZ/T 210.4-2008) , and areapplys to the collection and determination of TiO2 in the air of workplace.
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Objective@#To establish the method for determination of iron and its inorganic oxide in the air of workplace.@*Methods@#The iron and its inorganic oxide was collected by MCE filter membrane and then digested by electric heating digestion apparatus. Atomic absorption spectrophotometer (AAS) or inductively coupled plasma optical emission spectrometry (ICP-OES) was used for the detection of iron and its inorganic oxide.@*Results@#The sampling efficiency was higher than 97%; under the 372.0 nm wavelength, the linearity of AAS was good at the range of 1.0~150.0 μg/ml, the minimum quantitation concentration was 0.28 mg/m3, the maximum quantitation concentration was 6.24 mg/m3, the recovery was ranged from 99%~102%, the RSD of intra-and inter-batch precision were 0.5%~1.2% and 1.0%~2.2%, respectively; the linearity of ICP-OES was good at the range of 0.1~500 μg/ml, the minimum quantitation concentration was 0.28 mg/m3, the maximum quantitation concentration was 20.8 mg/m3, the recovery was ranged from 101%~103%, the RSD of intra-and inter-batch precision were 0.5%~1.0% and 1.5%~1.6%, respectively.@*Conclusion@#The sampling method and determination method meet the requirements of analysis and apply to the collection and determination of iron and its inorganic oxide in the air of workplace.
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Objective@#To establish ion chromatography method to determine thiocyanate within urine of workers who were exposed to cyanide.@*Methods@#After the workers work, used 50 ml centrifuge tube to collect the urine of workers about 20 ml.The urine were tested by centrifugation, dilution and filtration by C18 column, thiocyanate was separated by AS16 and mobile phase elution by KOH, detected by electrical circuitryconductivity detector, quantitative by the standard curve method.@*Results@#The linear correlation coefficient of thiocyanate within the range of 0.1-5.0 μg/ml was more than 0.999. The method detection limit was 0.11μg/ml (in 1ml urine) , the method quantitative limit was 0.35 μg/ml. The method recoveries were 95.1%-99.7%. The within-day precision range was 0.54%-2.05%, The between-run precision range was 2.06%-5.09%. Sample stability test showed that thiocyanate samples could be stored for 5 days at room temperature and 7 days at 4 ℃, could be stored for 14 days at-20 ℃.@*Conclusion@#The technical indicator of method compliance with rule of Guide for establishing occupation health standards-Part 5: determination methods of chemicals in biological materials (GBZ/T 210.5-2008) , the method applies to workers who were exposed to cyanide.
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Objective To observe the effects of different compatibility ratios of Astragali Radix and Angelicae Sinensis Radix on vascular intimal hyperplasia; To ascertain the effective compatibility of Astragali Radix and Angelicae Sinensis Radix for antagonizing vascular intimal hyperplasia. Methods SD rats were divided into different groups by baseline geometric design method: Astragali Radix and Angelicae Sinensis Radix different compatibility ratios groups, Astragali Radix group, Angelicae Sinensis Radixgroup, positive medicinegroup and sham-operation group. A model of intimal hyperplasia of thoracoabdominal aorta was established by balloon catheter injury in vascular endothelium of rats. Then the thoracoabdominal aorta was taken out after gavage of Astragali Radix and Angelicae Sinensis Radix with different compatibility ratios for 14 days. Bloodletting was used to take thoracoabdominal aorta. Masson staining and Morphometric methods were used to analyze the intimal hyperplasia. Results IA, IT, HRIA and HRIT increased 14 day after intimal injury. Compared with the model group, IA, IT, HRIA and HRIT in Angelicae Sinensis Radix group, Astragali Radix and Angelicae Sinensis Radix 1:2 group, Astragali Radix and Angelicae Sinensis Radix 1:5 group, Astragali Radix and Angelicae Sinensis Radix 1:1 group and Astragali Radix and Angelicae Sinensis Radix 5:1 group were lower, and the effects of Astragali Radix and Angelicae Sinensis Radix 1:1 ratio were strongest. The effects on intimal hyperplasia in Astragali Radix group and Astragali Radix and Angelicae Sinensis 2:1 group had no significant differences compared with model group. Conclusion Astragali Radix and Angelicae Sinensis can inhibit vascular intimal hyperplasia in a certain compatibility ratios, and the effects of Astragali Radix and Angelicae Sinensis Radix 1:1 on intimal hyperplasia are the best.
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Objectives To provide genetic counseling and prenatal molecular diagnosis for two families with megalencephalic leukoencephalopathy with subcortical cysts (MLC).Methods Two MLC patients (probands 1 and 2) were admitted to the Department of Pediatrics of Peking University First Hospital in June 2011 and June 2009,respectively.Peripheral blood was collected and DNA sequencing was performed for genetic analysis for the two MLC patients and their parents.Amniotic fluid and villus of two fetuses (fetus 1 and 2) were collected at 21+4 and 12+3 weeks of gestational age from their mothers when they were pregnant again.The genomic DNA of the two fetuses was extracted and corresponding sites of MLC1 gene were sequenced.Haplotype analysis using a combination of 3 microsatellite markers (AR,DXS6807 and DXS6797) on chromosome X and sex determining region of Y chromosome was performed to detect maternal cell contamination.Verification of the prenatal molecular diagnosis and follow up study after birth were conducted for both fetuses.Results Macrocephaly,motor development delay and typical findings on brain MRI were identified in the two probands,and were clinically diagnosed with MLC.Compound heterozygous mutations were detected in proband 1 [c.353C＞T (p.T118M) and c.803C＞G (p.T268R)] and proband 2 [c.353C＞T (p.T118M) and c.836T＞C(p.L279P)],respectively.MLC was genetically diagnosed.Heterozygous variation in c.353[c.353C＞T (p.T118M)] and wild c.803C were identified in fetus 1,and both wild c.353C and c.836T were found in fetus 2.No maternal cell contamination was detected in both fetuses.Sequencing the corresponding sites after birth confirmed the prenatal diagnosis,and the head circumference and motor development were normal in fetus 1 at 5 months old.No macrocephaly was found and no DNA sequencing was done in fetus 2 at one month old.Conclusions Genetic counseling and prenatal molecular diagnosis for MLC families combined with clinical and genetic diagnosis are important in preventing MLC.Haplotype analysis with a combination of three microsatellite markers on chromosome X and sex determining region of Y chromosome is useful in detecting maternal cell contamination and avoiding its influence on prenatal diagnosis,and confirming the reliability of prenatal diagnosis.
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OBJECTIVE:To observe the efficacy and safety of azithromycin sequential therapy combined with terbutaline in the treatment of mycoplasma pneumonia. METHODS:130 children with mycoplasma pneumonia were randomly divided into control group and observation group. Control group was given azithromycin sequential therapy by using 10 mg/kg Azithromycin dispersible tablet by intravenous infusion,once a day,for continuous 3-5 d,then rested for 4 d,and then given 10 mg/kg Azithromycin dis-persible tablet at a draught,once a day,for continuous 3 d,then rested for 4 d;observation group was additionally given 2.5 mg Terbutaline injection adding into 5 ml sodium chloride injection by inhalation via oxygen atomization,twice a day,10-15 min ev-ery times,and then the children were fed with warm boiled waterafter atomization. The treatment course for both groups was 4 weeks. Clinical efficacy,and changes of cytokines levels [tumor necrosis factor-α(TNF-α),interleukin-6 (IL-6),IL-8],disap-peared time of related symptoms and signs (wheezing,rales,coughing,fever),hospitalization time before and after treatment, and incidence of adverse reactions in 2 groups were observed. RESULTS:After treatment,the effective rate in observation group was significantly higher than control group,levels of TNF-α,IL-6 and IL-8 were significantly lower than control group,disap-peared time of related symptoms and signs and hospitalization time were significantly shorter than control group,the differences were statistically significant(P0.05). CONCLUSIONS:Azithromycin sequential therapy combined with terbutalineaerosol therapycan effectively improve the cytokines levels and clinical efficacy,with good safety.