Objective: To evaluate health risks of five heavy metals in drinking water of rural schools in Henan Province, so as to provide scientific basis for drinking water safety in rural schools. Methods: Totally 1 269 drinking water samples were collected and analyzed for five heavy metals (As, Cd, Cr 6+ , Pb, Hg) concentration in 106 cities and counties of Henan Province, and its spatial distribution characteristics were explored by geographic information system (GIS). Risk assessment method recommended by the United States Environmental Protection Agency (U.S. EPA) was applied to evaluate health risks from five heavy metals through oral ingestion. Results: The qualified rate of As concentration was 100%, and the qualified rates of Cd, Cr 6+ , Pb and Hg were 99.9% , 99.9%, 99.5%, 99.6%. The highest carcinogenic risk was As (3.05×10 -5 ), followed by Cr 6+ (2.73×10 -5 ), and the highest non carcinogenic risk was As (0.158 3), followed by Pb(0.041 7). The carcinogenic risk and non carcinogenic risk were all higher in girls than boys. The carcinogenic and non carcinogenic risks were differences in different regions( P <0.05). Conclusion Health risks of five heavy metals in drinking water for rural schools in Henan Province were within the acceptable risk level recommended by EPA. As, Cr 6+ and Pb were the main health risk factors in drinking water, and that might impact negatively the healthy growth of primary and middle school students. These should be future efforts of drinking water safety management.

OBJECTIVE: To improve the recognition of Familial glucocorticoid deficiency type 1 (FGD1) due to variants of melanocortin 2 receptor (MC2R) gene. METHODS: Two children with FGD1 diagnosed at the Henan Children's Hospital respectively in 2019 and 2021 were selected as the study subjects. Clinical data, treatment, follow-up and results of genetic testing were collected and retrospectively analyzed. RESULTS: Whole exome sequencing revealed that both children had harbored compound heterozygous variants of the MC2R gene, including c.433C>T (p.R145C) and c.710T>C (p.L237P) in child 1, and c.145delG (p.V49Cfs*35) and c.307G>A (p.D103N) in child 2, among which c.710T>C (p.L237P) and c.145delG (p.V49Cfs*35) were unreported previously. CONCLUSION FGD1 is clinically rare, and genetic sequencing is crucial for the definite diagnosis. Discovery of the and novel variants has enriched the mutational spectrum of the FGD1 gene.
Humans ; Child ; Glucocorticoids/therapeutic use* ; Receptor, Melanocortin, Type 2/genetics* ; Retrospective Studies ; Adrenal Insufficiency/genetics* ; Mutation

Objective: To study the effects of atmospheric fine particulate pollution on the lung function of primary school students before and after heating during the winter in Zhengzhou. Methods: In Zhengzhou, two areas with low and high level of PM 2.5 pollution(A and B), were selected as monitoring points from 2016 to 2018. Each monitoring station selected one elementary school within around 1 km and used a cluster random sampling method to extract students from grades 3 to 5 as the research subjects. Lung function tests were conducted before and after heating in winter, and mass concentration of PM 2.5 were recorded daily and compared to those recorded one month prior. Results: The average daily mass concentration of PM 2.5 were 74 μg/m 3 and 92 μg/m 3 in the light pollution monitoring points A and the heavy pollution monitoring points B, which exceeded the standard for 97 and 126 days, respectively. The FVC and FEV1.0 indexes for the first test of male students before heating were higher than those for the second test from 2016-2018 (P<0.05). Except in 2016,the FVC and FEV1.0 indexes for the first test of female students were also higher than those for the second test (P<0.05). After stratified by sex,multivariate linear regression showed that PM 2.5 was associated with lung function as measured by the FEV1.0, PEF, FEF25 and FEF75 values of the students were negatively correlated (B=-0.13--0.07,-0.13--0.08,P<0.05). Conclusion Fine particulate air pollution before and after heating during the winter in Zhengzhou had different effects on the lung function of primary school students. Therefore, it is necessary to strengthen the respiratory health protection of primary school students in winter to protect their health.

Objective To analyze the clinical and molecular genetic characterizations of X-linked adrenal dysplasia congenita(AHC) onset in infant.Methods Seven children (from 7 families) with X-linked AHC who were admitted to the Department of Endocrinology,Genetics and Metabolism,Children's Hospital Affiliated to Zhengzhou University,from July 2012 to June 2017 were selected.All patients were screened for dosage-sensitive-sex reversal-adrenal hypoplasia congenital critical region on the X chromosome gene1 (DAX1/NR0B1) mutations.The clinical manifestation and laboratory examination were analyzed,their clinical characterizations were summarized.Results Seven patients were all male,the onset age of the patients were from after birth to 7 months old,and 4 patients (4 families) had a family history of X-linked recessive inheritance.The clinical manifestations were skin pigmentation [100.0％ (7/7 cases)],vomiting [71.4％ (5/7 cases)],no weight gain [57.1％ (4/7 cases)] and poor spirit [28.6％ (2/7 cases)].Laboratory tests showed that hyperkalemia and hyponatremia,increased coricotrophin,normal or decreased cortisol,17α-hydroxyprogesterone,progesterone,aldosterone and dehydroepiandrosterone.Testosterone levels increased in 5 patients.The abnormalities of adrenal glands imaging could be seen in 2 patients.Two patients were misdiagnosed as congenital adrenal cortical hyperplasia.Then the definitive diagnosis were made by genetic test.DAX1/ NR0B1 gene mutations were found in all patients.Five patients were novel mutations (c.114_126del,c.872G ＞ A,c.56delG,c.884T ＞ G,c.1217delG).Conclusions The clinical manifestations of X-linked AHC with infant onset include pigmentation,poor spirit and growth retardation,which should be differentiated from congenital adrenal cortical hyperplasia.Hormone levels such as elevated blood 17α-hydroxyprogesterone and family history are the main identification points,and AHC cannot be excluded when testosterone level increases.Five novel mutations are found in this study,which enrich the gene database.

Objective To investigate the feasibility and effectiveness of bilateral pedicle screw fixation combined with in-terbody fusion for the treatment of lumbar spondylolisthesis (degree Ⅱ or Ⅲ) through muscle-splitting approach. Methods There were 52 patients (16 males and 36 females) analyzed in our study from January 2012 to December 2015. The average age was 54.9 ± 7.21 years (from 35 to 70 years). The history of disease was from 10 months to 15 years, with an average of 66.6 ± 32.71 months. Diagnosis included:degenerative spondylolisthesis in 2 cases, and isthmic spondylolysis in 50 cases. The sites included L4,5 in 18 cases and L5S1 in 34 cases. The degree was Ⅱ in 35 cases and Ⅲ in 17 cases. 27 cases were treated by bilateral pedicle screw fixation combined with interbody fusion through median incision approach (open group) and 25 cases through muscle-split-ting approach (minimally invasive group). The clinical and imaging results were observed and compared between the two groups, including operation time, intraoperative blood loss, postoperative incision drainage, VAS score of lumbar incision pain at 72h post-operative, intraoperative and postoperative complications, interbody fusion rate, multifidus muscle areas and grades at 1 year post-operative, and the improvement of ODI index. Results All the cases were operated successfully. The operation time of open group was shorter than minimally invasive group. However, the intraoperative blood loss and postoperative incision drainage of minimally invasive group was statistically less than open group. The VAS scores of postoperative 72 h were 3.25 (2 to 6) in open group and 1.62 (1 to 3) in minimally invasive group. And the difference was statistically significant. The misplacement rate of pedi-cle screws of minimally invasive group was lower than open group. The average follow-up time was 25.5 months (ranged from 12 to 36 months). The multifidus muscle areas and grades of minimally invasive group were superior to open group at 1 year postopera-tively. Compared to preoperative, the slipping angle, slipping rate, sacral inclination angle and vertebral space height were signifi-cant improved after operation in two groups. The ODI index was improved postoperatively in both two groups, and the difference was statistically significant at the final follow-up. The interbody fusion rate was 92.6％in open group and 96％in minimally inva-sive group, and there was no significant difference between the two groups. No cerebrospinal fluid leak, never injury, pedicle frac-ture or wound infection was found after the operation in two groups. There was no pedicle screw loosening, cage shifting, or degen-eration of the adjacent segment observed during follow-up. Conclusion Bilateral pedicle screw fixation combined with inter-body fusion through muscle-splitting approach has advantages of small incision, less trauma, less bleeding, quick recovery and well clinical results, which can be a better choice in treating lumbar spondylolisthesis (degree Ⅱ or Ⅲ).

Objective To investigate the Th1/Th2 cytokines and chemokine CXCL 13 levels in peripheral blood and cerebrospinal fluid(CSF)of patients with neurosyphilis and their clinical significance. Methods Forty seven HIV negative patients with neurosyphilis, 36 syphilis patients without neurological involvement(syphilis group)and 23 patients without infectious intracranial diseases(control group) admitted in Hangzhou Third Hospital during July 2011 to December 2014 were enrolled in the study.CSF pressure, protein contents, white blood cell counts and IgG index were detected in patients with neurosyphilis.Enzyme-linked immunosorbent assay(ELISA)was used to detect the levels of Th1 cytokines (IL-2,IL-12 and IFN-γ),Th2 cytokines(IL-6,IL-10)and CXCL13 in serum and CSF in three groups.Th1/Th2 cytokines,CXCL13 levels and CSF routine were also examined in neurosyphilis patients after treatment for 3 and 12 months.ANOVA, Kruskal-Wallis test and Spearman correlation were used for data analysis.Results The levels of IL-6 and IL-10 in serum and CSF from neurosyphilis patients were higher than those in syphilis group and control group(χ2IL-6=15.43, 15.39 and 14.44, 20.01,χ2 IL-10 =16.46, 23.86 and 15.11,24.44;P<0.05 or <0.01), while the levels of IL-2, IL-12 and IFN-γin the serum and CSF were lower than those in syphilis group and control group(χ2IL-2=14.55,17.14 and 16.14,17.97;χ2IL-12=13.65,20.50 and 18.48,21.04;χ2IFN-γ=16.95,17.53 and 16.00,15.21;P<0.05 or <0.01). CXCL13 contents in CSF of neurosyphilis patients were significantly higher than those in other two groups (χ2=52.51 and 53.76, P <0.01), and were positively correlated with leucocyte counts, protein concentrations,IgG index,IL-6 and IL-10(r=0.325,0.544,0.750,0.333 and 0.382,P<0.05 or <0.01),but were negatively correlated with IL-12 levels in neurosyphilis patients(r=-0.303,P<0.05). In neurosyphilis patients,CXCL13 and IL-6 levels were reduced after treatment for 12 months(χ2=102.00 and 22.17,P<0.05 and <0.01), while the levels of IL-2 and IL-12 were increased(χ2=18.28 and 24.10,P<0.05 and <0.01).Conclusion Chemokine CXCL13 and Th1/Th2 cytokines are involved in the immune response in neurosyphilis patients, which may be used for the diagnosis and evaluation of therapeutic efficacy in patients with neurosyphilis.

Objective To examine the feasibility and early effects of unilateral pedicle screw fixation in combination with contralateral translaminar facet screw fixation plus interbody fusion through the channel-assisted muscle-splitting approach for the treatment of degenerative lumbar spine diseases in elderly patients.Methods A total of 82 elderly patients with degenerative lumbar spine diseases received treatment between January 2015 and June 2016.Of these patients,25 had lumbar spinal stenosis,42 had degenerative lumbar instability,13 had giant lumbar disc herniation,and two had recurrent lumbar disc herniation;There were 69 cases of single segment and 13 cases of double segment lesions.Perioperative evaluation,imaging evaluation,and clinical evaluation were performed,and surgical complications were analyzed.Results The average length of incision was (2.6 ± 0.4) cm in cases of single segment lesions and (4.4±0.5) cm in cases of two segment lesions.The mean operation time was (98.3±19.6) minutes and peri-operation blood loss was (232.2±25.8) ml.The post-operation height of the intervertebral disc space significantly increased at the last follow-up(P ＜ 0.05);the height of the intervertebral disc space was restored and well maintained with internal fixation showing no loosening,breakage or Cage shift.The post-operation lumbar coronal Cobb angle decreased(P＜0.05)while the sagittal Cobb angle increased(P＜0.05)at the last follow-up.There was no significant difference in the area and grade of the multifidus muscle on MRI 12 months after operation.Seventy-two patients were followed up for 12-18 months (mean =16.8 months),and there were 67 cases of intervertebral fusion (93.1％).The last follow-up showed a Japanese Orthopaedic Association(JOA) score of (25.8 ± 1.7),which was significantly higher than the pre-operation score (10.6±1.3),with an excellence rate of 88.9 ％.The Oswestry Disability Index score was significantly reduced,from (50.9±21.6) at pre-operation to (9.6± 4.8) at the last follow-up.There were 78 patients with primary wound healing,three cases of superficial wound necrosis,one case of dural tear,and one case of nerve root injury.No cardiovascular or cerebrovascular incident was observed during or after operation.Conclusions Combined pedicle/facet screw fixation plus interbody fusion through the channel-assisted muscle-splitting approach shows satisfactory short-term effects when used for the treatment of degenerative lumbar spine diseases in the elderly and possesses advantages such as minimal invasiveness,limited bleeding,quick recovery,high fusion rates and significantly improved clinical outcomes.However,further clinical studies are required to assess its medium-and long-term efficacy.

Objective To investigate the relationship between the level of circulating CD133+/KDR+ endothelial progenitor cells (EPCs) and outcome in patients with acute ischemic stroke.Methods Inpatients with first-ever ischemic stroke within 24 hfrom the onset and age-and sex-matched healthy subjects were enrolled in the study.The demographic and clinical data of the patients were collected.The level of CD133+/KDR+ EPCs was detected by flow cytometry.All patients were followed up at 90 d.The modified Rankin Scale was used to evaluate the clinical outcome,0-2 was defined as good outcome and >2 was defined as poor outcome.Results A total of 126 consecutive patients with first-ever ischemic stroke within 24 hfrom the onset and 60 age-and sex-matched healthy subjects were enrolled.In patients with ischemic stroke,33 (26.19%) were large artery atherosclerosis (LAA),74 (58.73%) were small artery occlusion (SAO),19 (15.08%) were cardioembolism (CE);82 (65.08%) had good outcomes and 44 (34.92%) had poor outcomes.The number of circulating EPCs at baseline in patients of the LAA subtype (0.071%±0.018%),CE subtype (0.068%±0.16%) and SAO subtype (0.118%±0.12%) was significantly lower than that in the control group (0.246%±0.052%;all P<0.05),and the CE subtype (P=0.028) and LAA subtype (P=0.037) were significantly lower than the SAO subtype;the CE subtype was lower than the LAA subtype,but the difference was not statistically significant (P=0.762).The proportions of patients with LAA subtype (40.91% vs.18.29%;χ2=7.577,P=0.006) and CE subtype (29.55% vs.7.32%;χ2=11.049,P=0.001) and atrial fibrillation (29.55% vs.10.98%;χ2=6.582,P=0.009),and age (69.64±9.62 years vs.61.12±7.31 years;t=5.570,P<0.001),and baseline NIHSS score (14.16±4.22 vs.6.96±2.04;t=12.919,P<0.001),baseline systolic blood pressure (176.06±13.42 mmHg vs.164.12±11.69 mmHg,1 mmHg=0.133 kPa;t=5.187,P<0.001),low-density lipoprotein cholesterol (2.92±0.52 mmol/L vs.2.49±0.36 mmol/L;t=5.447,P<0.001),fasting blood glucose (8.76±2.88 mmol/L vs.6.82±2.24 mmol/L;t=4.185,P<0.001),C-reactive protein (7.62±1.82 mg/L vs.4.57±1.58 mg/L;t=9.790,P<0.001),and D-dimer (1.14±0.08 mg/L vs.0.97±0.22 mg/L;t=4.946,P<0.001) levels in the poor outcome group were significantly higher than those in the good outcome group,while the proportion of the SAO subtype patients (29.55% vs.74.39%;χ2=23.759,P<0.001),high-density lipoprotein cholesterol (0.94±0.68 mmol/L vs.1.16±0.14 mmol/L;t=2.829,P=0.005),and baseline EPCs (0.069%±0.018% vs.0.098%±0.021%;t=7.755,P<0.001) were significantly lower than those in the good outcome group.Multivariate logistic regression analysis showed that the higher baseline NIHSS score (odds ratio 1.242,95% confidence interval 1.126-1.372;P<0.001),CE subtype (odds ratio 3.460,95% confidence interval 1.312-5.146;P=0.016),and the lower baseline EPCs (odds ratio 1.632,95% confidence interval 1.006-3.024;P<0.001) were the independent risk factors for poor outcome in patients.Conclusion s The level of circulating EPCs was decreased significantly in patients with acute ischemic stroke,and the lower level of baseline EPCs was an independent predictor of poor outcome in patients with ischemic stroke at 90 d.

Clinical characteristics were analyzed in a child with very long chain acyl-CoA dehydrogenase deficiency( VLCADD) . The gene analysis was performed in 20 exon all coding regions and 10 bp shear zone in the very long chain acyl-CoA dehydrogenase( VLCAD) gene of the case and his family members by direct sequencing of PCR-DNA from peripheral blood. The results showed that the patient presented with acute onset, clinical manifestations of repeated vomiting, poor spirit, abnormal liver function, increased myocardial enzyme kinase. At the age of one year old, this child was diagnosed with Reye's syndrome for liver injury. Genetic testing results revealed that E14 c. 1349G>A, p. R450H heterozygous mutation in VLCAD gene was found in this case, his mother, and his younger sister, and E15 c. 1532G>A, p. R511Q heterozygous mutation was found in this case and his father. The pathogenic genes of the case are from his mother and the younger sister is a carrier.