Objective:To investigate the infection status and the infection rate of age stratification of human papillomavirus (HPV) subtypes in women at some areas of Beijing, who were diagnosed with no intraepithelial lesions and canceration, low grade squamous intraepithelial lesions (LSIL) and high grade squamous intraepithelial lesions (HSIL), based on the diagnosis of women′s thinprep cytologic test(TCT).Methods:From January 2019 to December 2019, the cervical exfoliated cells of women who presented in Department of Gynaecology and Obstetrics of Beijing Anzhen Hospital Affiliated to Capital Medical University were collected, and the high-risk HPV typing nucleic acid test kit (fluorescence quantitative PCR) was used for genotyping.The results were retrospectively analyzed.Meanwhile, the patients who were tested by TCT at the same time were screened.According to the TCT pathological diagnosis, these patients were divided into three groups: no intraepithelial lesions and canceration (hereinafter referred to as the control group), low-grade squamous intraepithelial lesions (TCT-LSIL) and high-grade squamous intraepithelial lesions (TCT-HSIL). The chi square test was used for the statistical analysis.Results:In control group (561 cases), 68 cases were infected by at least one subtype of HPV, with a total positive rate of 12.12%.In TCT-LSIL group (385 cases), 288 cases were infected by at least one subtype of HPV, with a total positive rate of 74.81%.In TCT-HSIL group (170 cases), 128 cases were infected by at least one subtype of HPV, with a total positive rate of 75.29%.The highest positive rate was type 52 in the control group, while the highest positive rate was type 16 in the TCT-LSIL and TCT-HSIL groups.The infection rate of the three groups increased with the increase of cervical pathological grade.The infection rates of type 16, 18, 31, 33, 39, 45, 51, 52, 56, 58 and 68 were significantly different among the three groups (all P<0.05). The infection rate of HPV16 in the TCT-HSIL group was significantly higher than that in the control group and the TCT-LSIL group(P′<0.017). After all the subjects were stratified by age, only type 16 had statistical difference in infection rate among different age groups (all P<0.05). After age stratification of three groups, within the age<31 years old, the infection rates of 16, 18, 31, 33, 39, 45, 51, 52, 56 and 58 types were statistically different among the three groups (all P<0.05). In the age range of ≥31-<41 years old, the infection rates of 16, 18, 39, 51, 52, 56 and 58 types were statistically different among the three groups (all P<0.05). In the age range of ≥41-<51 years old, the infection rates of 16, 18, 35, 52, 56 and 58 types were statistically different among the three groups (all P<0.05). In the age≥51 years old, the infection rates of 16, 18, 31, 33, 51, 52 and 58 types were statistically different among the three groups (all P<0.05). After the age stratification of TCT-LSIL group, the infection rates of 16 and 45 types were statistically different among in the four groups of<31, ≥31-<41, ≥41-<51 and ≥51 years old (all P<0.05). However, there was no significant difference in the infection rate of each subtype in the control group and the TCT-HSIL group(all P>0.05). Conclusion:HPV subtypes 16, 18, 51, 52, and 58 are the main infection types in high grade squamous intraepithelial lesion patients, which are the main types of HPV caused cervical lesions.In addition, the infection rates of HPV in patients with cervical high-grade squamous intraepithelial lesionsare similar in different age groups.

Objective To evaluate the sleep structure of rapid eye movement sleep disorder (RBD) patients and its correlations with emotional state,autonomic nerve system function symptoms,and sleep quality.Methods Twenty-two RBD patients examined in our hospital from October 2014 to May 2016 who complained of behavior disorders and conformed diagnosis by video-polysomnography (v-PSG) were chosen as RBD group;23 healthy gender,age and education-level matched subjects confirmed without RBD by v-PSG were selected as control group.Their emotional state,autonomic nerve function and sleep quality were assessed by center for epidemiological survey depression scale (CES-D),apathy evaluation scale (AES),scale for outcomes in PD for autonomic symptoms (SCOPA-AUT),and scale for outcomes in PD for sleep (SCOPA-SLEEP).The differences in sleep structures,periodic leg movement index (PLMI),apnea hypopnea index (AHI) and arousal index between RBD group and control group were compared.The differences of scores of emotional state,autonomic nerve system function symptoms were compared between the two groups.The correlations of sleep structure with emotional state,autonomic nerve system function symptom,and sleep quality in RBD group were analyzed.Results As compared with those of the control group,the proportion of non-rapid eye movement (NREM)-Ⅰ sleep of RBD group was significantly increased,proportions of NREM-Ⅱ sleep and NREM-Ⅲ sleep were statistically reduced,PLMI,CES-D scores,urinary and digestive system questionnaire and overall scores in the RBD group were significantly increased (P＜0.05).In patients from RBD group,CES-D scores were positively correlated with proportion of NREM-I sleep (r=0.520,P=0.000);nighttime sleepiness questionnaire and overall scores were positively correlated with PLMI (r=0.465,P=0.029;r=0.444,P=0.039);daytime sleepiness scores were negatively correlated with proportion of NREM-Ⅲ sleep (r=-0.480,P=0.041);cardiovascular system symptom was correlated with PLMI (r=0.439,P=0.041).Conclusion RBD patients suffer sleep structure disturbance,depression tendency,digestive and urinary system of autonomic nerve symptoms;sleep quality scores and total scores,cardiovascular system symptoms scores are positively correlated with LMI;daytime sleepiness is negatively correlated with reducing phase Ⅲ sleep,CES-D scores are correlated with increasing NREM-I sleep and unbalanced neurotransmitter,especially,5-TH level.

OBJECTIVETo analyze the clinical and molecular features of a child with carnitine palmitoyltransferase 1A (CPT1A) deficiency.

METHODSClinical data of the child was collected. Blood acylcarnitine was determined with tandem mass spectrometry. DNA was extracted from the child and his parents. All exons and flanking regions of the CPT1A gene were analyzed by PCR and Sanger sequencing.

RESULTSAnalysis showed that the patient carried compound heterozygous mutations c.1787T>C and c.2201T>C of the CPT1A gene, which derived his father and mother, respectively. Both mutations were verified as novel through the retrieval of dbSNP, HGMD and 1000 genome databases. Bioinformatic analysis suggested that the mutations can affect protein function.

CONCLUSIONAcyl carnitine analysis has been the main method for the diagnosis of CPT1A deficiency. The c.1787T>C and c.2201T>C mutations of the CPT1A gene probably underlie the disease in this patient. Gene testing can provide important clues for genetic counseling and prenatal diagnosis.

Base Sequence ; Carnitine O-Palmitoyltransferase ; deficiency ; genetics ; Exons ; Female ; Humans ; Hypoglycemia ; enzymology ; genetics ; Infant ; Lipid Metabolism, Inborn Errors ; enzymology ; genetics ; Male ; Molecular Sequence Data ; Point Mutation ; Pregnancy

Objective To explore the application value of magnetic resonance molecular functional imaging diffusion weighted imaging(DWI) in the identification of pancreatic carcinoma and mass-type pancreatitis of animal model.Methods Each 8 cases of laboratory pancreatic head transplantation tumor model,chronic mass-type pancreatitis model and normal rabbits were selected and performed the MR DWI molecular functional imaging,the b values were 333,667,1 000 s/mm2 respectively.The apparent diffusion coefficients(ADC) of pancreatic carcinoma model,mass-type pancreatitis model and normal pancreas under different b values were observed.Then the change situation of ADC values of pancreatic carcinoma model,mass-type pancreatitis model and normal pancreas under different b values and difference of ADC(DADC) was analyzed.Moreover the differences in molecular diffusion,tissue perfusion among various groups were observed.Results Throughout the study period,the mortality rate of pancreatic head transplantation tumor model was 50%;the mass-type pancreatitis model and 8 normal rabbits were normally survival.The ADC value of pancreatic carcinoma under the same b value was significantly lower than that of chronic inflammation and normal pancreas area.The ADC value in each group was decreased with the increase of b value,and there was significant difference in ADC value when the b value was 333 s/mm2(F=6.662,P=0.014),in the pairwise comparison among groups,the difference between pancreatic cancer and pancreatitis (t=6.773,P=0.003) and between pancreatic cancer and normal pancreas(t=5.883,P=0.016) had statistical significance (P<0.05).The b value was increased,DADC was smaller,the difference change of DADC between pancreatic cancer area and chronic pancreatitis mass area,between pancreatic cancer area and normal pancreatic head area had statistical significance (P<0.05).Conclusion Rationally selecting the molecular functional imaging DWI technology of b value can better distinguish pancreatic cancer from mass-type pancreatitis,which may be promoted and applied in the evaluation of animal pancreatic head cancer model.

Objective To investigate the clinical and biochemical metabolic features of 12 patients with systemic primary carnitine deficiency(CDSP) and to identify the SLC22A5 gene mutation types of the disease. Method The clinical and biochemical data were collected by retrospective analysis. DNA direct sequencing and multiplex ligation dependent probe amplification(MLPA)were applied for SLC22A5 gene analysis. Result Among 12 patients with CDSP, 3 cases had evident infection factors, 6 cases with convulsions, 5 cases manifested liver hypertrophy, 8 cases with hyperammonemia, and 9 cases showed myocardial damage. All CDSP patients were detected biallelic pathogenic mutation in SLC22A5 gene by direct sequencing. The gene types include IVS2+1G>T, c.3G>T(p.Met1Ile), c.760C>T(p.Arg254X), c.1400C>G(p.Ser467Cys), c.844dupc(p.Arg282fs), c.338G>A(p.Cys113Tyr), c.51C>G(p.Phe17Leu), c.659A>T(p.Glu220Val), and c.1365dupC(p.Thr456fs). c.659A>T(p.Glu220Val) and c.1365dupC(p.Thr456fs)are novel mutations. One female patient was maternal CDSP, her child had abnormal newborn screening. The allele frequency of c.760C>T(p.Arg254X) and c.1400C>G(p.Ser467Cys) were 37.5%(9/24)and 29.2%(7/24)respectively. The MLPA test results of all patients were negative. Conclusion The clinical manifestations are complex and various in patients with CDSP. Point and small InDel(insertions/deletions)mutation constitute the major alteration in SLC22A5 gene. c.1400C>G(p.Ser467Cys) might be another prevalence mutation type in Chinese CDSP patient.

OBJECTIVETo analyze PCCA and PCCB gene mutations in 10 Chinese patients with propionic acidemia(PA).

METHODSGenomic DNA was extracted from peripheral blood leukocytes. The 39 exons and flanking sequences of the PCCA and PCCB genes were amplified with polymerase chain reaction and subjected to direct DNA sequencing.

RESULTSDNA sequencing has revealed that 7 patients have carried a PCCA gene mutation, 2 patients carried PCCB gene mutation and 1 patient carried mutations in both PCCA and PCCB genes. Ten PA mutations were confirmed, including 8 affecting the PCCA gene and 2 affecting the PCCB gene. Three PCCA mutations c.245G>A, IVS15+5del5, c.1288C>T and 2 PCCB mutations c.838insC, c.1087T>C were found for the first time.

CONCLUSIONAmong Chinese patients with propionic acidemia patients, their genetic mutations are mainly found on the PCCA gene.

Child, Preschool ; Female ; Humans ; Infant ; Male ; Methylmalonyl-CoA Decarboxylase ; genetics ; Mutation ; Propionic Acidemia ; genetics

Objective To investigate the relationships of pulmonary arterial pressure (PAP) with serum protein S100B, cytokines and plasma procalcitonin (PCT) in patients with acute exacerbation of chronic obstructive pulmonary disease (AECOPD). Methods A prospective controlled study was conducted, 160 subjects admitted in the Critical Care Medicine and Respiratory Disease Departments in the Affiliated Hospital of Shanxi Medical University/Changzhi Municipal People's Hospital from January 2012 to August 2013 were enrolled in the study, including 80 patients with AECOPD (AECOPD group) and 80 COPD under stable condition (SCOPD group). Meanwhile 100 healthy people having passed physical examinations were chosen as healthy control group. The levels of blood routine and plasma PCT were examined, PAP was evaluated by modified Simpson, sequation with echocardiography, serum S100B was measured by radioimmunoassay, and enzyme linked immunosorbent assay (ELISA) was used to measure interleukins (IL-18, IL-1β) and tumor necrosis factor-α(TNF-α). The linear correlation analysis was carried out for the various indicators. Results The gender and age in different groups were matched. Compared with the healthy control group, the levels of white blood cell count (WBC), ratio of neutrophil granulocyte (PMN), PAP, PCT and S100B, IL-18, IL-1β, and TNF-αwere significantly higher in SCOPD and AECOPD groups [WBC (×109/L):0.84±0.22, 1.94±0.64 vs. 0.73±0.12, PMN: 0.70±0.09, 0.85±0.08 vs. 0.54±0.05, PAP (mmHg, 1 mmHg = 0.133 kPa): 39±5, 47±8 vs. 24±5, PCT (μg/L): 0.41±0.08, 6.35±2.14 vs. 0.11±0.01, S100B (μg/L): 0.081±0.017, 0.101±0.028 vs. 0.041±0.011, IL-18 (ng/L): 162±19, 181±27 vs. 112±19, IL-1β(ng/L): 55±12, 75±14 vs. 34±10, TNF-α(ng/L):67±17, 89±18 vs. 35±17, all P<0.05], and the increase in level of indexes was more significant in AECOPD group than that in the SCOPD group (all P < 0.01). Serum S100B was significantly positively correlated with PCT, IL-18, PMN and PAP (r value was 0.36, 0.41, 0.39, 0.35, all P<0.05), and plasma PCT was also significantly positively correlated with PMN and PAP (r value was 0.41, 0.37, both P<0.05). Conclusion The level of serum S100B might have positive obvious correlation to the changes of plasma PCT, cytokines and PAP.

Objective To investigate the prevalence of hyperuricemia in health check-up population of Beijing suburb.Methods Total 1 336 rural residents in Nankou Township of Beijing received health check-up from July to Aug 2014,including 686 subjects aged 20-59 years (young/middle-aged group) and 650 subjects aged 60-96 years (elderly group).The blood pressure and body mass index (BMI) were measured;serum uric acid (SUA),fasting blood glucose (FBG) and blood lipids (TG,TC,HDL-C,LDL-C) were determined.The SUA levels ＞ 420 μmol/L for male and ＞ 360 μmol/L for female were defined as hyperuricemia.Results The four quartiles of SUA levels were 27.00-254.59 μmol/L (Q1),254.60-302.35 μmol/L (Q2),302.36-359.78 μmol/L(Q3) and 359.79-702.0 μmol/L (Q4).The prevalence of hyperuricemia was significantly higher in young/middle-aged group than that in elderly group [20.41％ (140/686) vs.13.85％ (90/650),x2 =10.08,P =0.001 5],the systolic blood pressure [SBP,(126.8±15.7) vs.(116.7±12.0)mmHg(1 mmHg=0.133 kPa),t=2.76,P=0.008],FBG [(7.40±4.10) vs.(6.11 ±2.03)mmol/L,t=2.12,P=0.036],TC [(5.52±1.10) vs.(5.23±1.00)mmol/L,t =2.04,P =0.045],LDL-C [(3.5 ±0.7) vs.(2.4 ±0.9)mmol/L,t =2.21,P =0.029]in young/middle-aged group were significantly higher than those in elderly group.BMI,FBG were significantly higher in Q4 than those in other quartiles [BMI:(26.44 ± 3.88) vs.(24.19 ± 3.37),(25.49±3.42) and (25.61 ±3.49)kg/m2,t =2.78,P=0.008;FBG:(8.19 ±1.52) vs.(6.34±1.34),(6.09 ± 1.51) and (6.40 ± 1.98) mmol/L,t =2.80,P =0.007].The triglyceride (TG) levels in group Q3 and Q4 [(1.85 ± 0.90) and (1.92 ± 0.44) mmol/L] were higher than those in Q1 and Q2 [(1.37 ±0.76) and (1.70 ±0.84) mmol/L,t =2.1,P =0.035].Only 9.57％ subjects (22/230)with hyperuricemia was not combined with metabolic disorder;subjects combined with one and two metabolic disorders accounted for 20.87％ (48/230) and 69.57％ (160/230),respectively.Conclusion Screening for hyperuricemia is important for comprehensiye treatment and management of hyperuricemia in rural residents,especially in the young and middle-aged population.

OBJECTIVETo identify the types of OTC gene mutations in three male patients with late onset ornithine transcarbamylase deficiency (OTCD, MIM #311250).

METHODSGenomic DNA was extracted from peripheral blood leukocytes. The 10 exons and their flanking sequences of the OTC gene were amplified with polymerase chain reaction and subjected to direct DNA sequencing.

RESULTSBased on DNA sequence analysis, all of the three patients have carried OTC gene mutations. Patients 1 and 2 were both hemizygous for mutation c.586G> A(p.D196N). A novel mutation c.800G> C(p.S267T) were confirmed in patient 3.

CONCLUSIONp.S267T mutation has affected the conserved amino acid motif of the OTC protein, and is therefore a pathogenic mutation.

Age of Onset ; Amino Acid Sequence ; Base Sequence ; Child ; Humans ; Infant ; Male ; Molecular Sequence Data ; Mutation ; Ornithine Carbamoyltransferase ; genetics ; Ornithine Carbamoyltransferase Deficiency Disease ; epidemiology ; genetics ; Sequence Analysis, DNA ; Sequence Homology, Amino Acid

OBJECTIVETo detect potential mutations of Y9ASS1, ASL and SLC25A13 genes in four patients manifesting citrullinemia.

METHODSGenomic DNA was extracted from peripheral blood leukocytes. Exons and their flanking sequences of the three genes were amplified with polymerase chain reaction and subjected to direct DNA sequencing.

RESULTSBased on DNA sequence analysis, one case was diagnosed with argininosuccinate synthetase deficiency, and the mutation type (ASS1 gene) was c.236C>T (p.S79F) + c.431C>G (p.P144R). Two cases were diagnosed with argininosuccinic aciduria (ASL gene), and their gene mutations were c.434A>G (p.D145G) + c.1366C>T (p.R456W) and c.331C>T (p.R111W) + IVS8+2insT, respectively. A thirteen months boy who carried a heterozygous 851del4 mutation (SLC25A13 gene) was diagnosed with citrullinemia adult-onset type II.

CONCLUSIONThrough analysis of relevant pathogenic genes, four patients have been diagnosed.

Adult ; Amino Acid Sequence ; Argininosuccinate Lyase ; genetics ; metabolism ; Argininosuccinate Synthase ; genetics ; metabolism ; Base Sequence ; Citrullinemia ; enzymology ; genetics ; Female ; Humans ; Infant ; Male ; Mitochondrial Membrane Transport Proteins ; genetics ; metabolism ; Molecular Sequence Data ; Pedigree ; Point Mutation