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Objective:To summarize the clinical features of developmental epileptic encephalopathy children with DNM1 gene variants. Methods:The genotypes and clinical features of 15 children with DNM1 variants related epilepsy in the Department of Pediatrics, Peking University First Hospital from June 2017 to October 2021 were retrospectively analyzed. Results:A total of 8 male and 7 female epilepsy patients with DNM1 gene variants with the age of seizure onset ranging from 15 days to 22 months were recruited, median age was 8 months.All cases belonged to de novo heterozygous variants of the DNM1 gene, including 13 cases of missense variants, 1 case of frame shift variant and 1 case of nonsense variant, 8 cases of ectopic sites have not been reported.Multiple seizure types were observed, including epileptic spasms in 15 patients, focal seizure in 9 patients, atypical absence seizure in 2 patients and tonic seizure in 2 patients.There were various types of seizures in 7 children.Nine cases occurred as infantile spasm for the first time.All 15 patients showed varied degrees of development delay, among them, 11 cases had developmental retardation before epilepsy.Three patients had slow rhythm of electroencephalogram background activity, the electroencephalography showed hypsarrhythmia in 13 patients; clinical seizures were detected in 8 cases, among them, epileptic spasms were captured in 7 patients, tonic seizure was captured in 1 patient.Widened frontotemporal subarachnoid space, cerebral atrophy, and corpus callosum dysplasia were examined in 6, 2 and 3 patients by cranial magnetic resonance imaging, respectively.All 15 cases were diagnosed as developmental epileptic encephalopathy, of which 13 cases were consistent with infantile spasms.The age of the last follow-up ranged from 1 year old to 7 years old.After multi-antiepileptic drug treatment, 2 patients were remission, 1 patient(small size of identical twins) died of severe pneumonia at the age of 2 years, and 12 patients still had intermittent seizures, of which 1 patient was transformed from infantile spasms to Lennox-Gastaut syndrome. Conclusions:The onset age of developmental epileptic encephalopathy caused by the DNM1 gene variant usually begins in the infantile period, the peak onset age was 8 months.The main types of seizures include epileptic spasms and focal seizures, developmental retardation can occur before seizures.The clinical manifestations are mostly infantile spasms syndrome, and some children can be transformed into Lennox-Gastaut syndrome.
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Objective: To summarize the phenotypes of epilepsy in patients with MBD5 gene variants. Methods: A total of 9 epileptic patients, who were treated in the Department of Pediatrics, Peking University First Hospital from July 2016 to September 2021 and detected with MBD5 gene pathogenic variants, were enrolled. The features of clinical manifestations, electroencephalogram (EEG), and neuroimaging were analyzed retrospectively. Results: Among 9 patients, 6 were male and 3 were female. Age at seizure onset ranged from 5 to 89 months. Multiple seizure types were observed, including generalized tonic clonic seizures (GTCS) in 7 patients, myoclonic seizures in 5 patients, focal seizures in 5 patients, atypical absence seizures in 3 patients, atonic seizures in 2 patients, myoclonus absence seizures in 1 patient, epileptic spasms in 1 patient, and tonic seizures in 1 patient. There were 8 patients with multiple seizure types, 2 patients with sensitivity to fever and 5 patients with clustering of seizures. Two patients had a history of status epilepticus. All patients had developmental delay before seizure onset. Nine patients had obvious language delay, and 6 patients had autism-like manifestations. Five patients had slow background activity in EEG. Interictal EEG showed abnormal discharges in 9 patients. Brain magnetic resonance imaging (MRI) was normal in all patients. A total of 9 epileptic patients carried MBD5 gene variants, all of them were de novo variants. There were MBD5 gene overall heterozygous deletion in 1 patient, large fragment deletions including MBD5 gene in 3 patients and single nucleotide variations (c.300C>A/p.C100X, c.1775delA/p.N592Tfs*29, c.1759C>T/p.Q587X, c.150_151del/p.Lys51Asnfs*6, c.113+1G>C) in 5 patients. The age at last follow-up ranged from 2 years and 9 months to 11 years and 11 months. At the last follow-up, 2 patients were seizure-free for more than 11 months to 4 years 6 months, 7 patients still had seizures. Conclusions: The initial seizure onset in patients with MBD5 gene variants usually occurs in infancy. Most patients have multiple seizure types. The seizures may be fever sensitive and clustered. Developmental delays, language impairments, and autistic behaviors are common. MBD5 gene variants include single nucleotide variations and fragment deletions. Epilepsy associated with MBD5 gene variants is usually refractory.
Subject(s)
Child , Child, Preschool , Female , Humans , Infant , Male , DNA-Binding Proteins/genetics , Electroencephalography , Epilepsies, Myoclonic/genetics , Epilepsy/genetics , Fever , Nucleotides , Phenotype , Retrospective Studies , Seizures/geneticsABSTRACT
@#AIM: To determine the clinical characteristics of intraretinal microvascular abnormality(IRMA)and associated neovascularization. <p>METHODS:This was a prospective, observational study. We recruited treatment-naive patients with diabetic retinopathy(DR)with IRMAs or retinal neovascularization, confirmed using fundus fluorescein angiography(FFA)between October 7, 2016 and December 10, 2017. Under the guidance of FFA, IRMAs and neovascularizations were scanned using optical coherence tomography angiography(OCTA). Origins, initial layers, morphologic features, retinal nonperfusion areas(NPAs), location with capillary nonperfusion(CNP)and leakages demonstrated by FFA of IRMAs and associated neovascularization were documented and compared. Retinal nonperfusion areas were measured using Image J software. <p>RESULTS: Thirty-nine eyes of 36 patients were enrolled in this prospective study. High quality images of twenty IRMAs and 22 IRMA-associated neovascularizations were identified using OCTA. All IRMAs originated from and drained into veins in pruned-tree-like shapes. IRMAs originated from the major retinal vessels at the margin of the CNP, extended into retina and were always confined within a single original nonperfused area. All IRMA-associated neovascularizations originated from IRMAs with a sea-fan-like appearance. The IRMA associated neovascularizations crossed retinal venous and extended to both sides. The main part of these structures was intraretinal, except some advancing tips that breached the internal limiting membrane(ILM)to form neovascularization, and were adhered firmly to the retina; 91%(20/22)of IRMA-associated neovascularizations were located in the CNPs, and 9%(2/22)were located at the margin of CNPs. The affiliated NPAs of IRMA-associated neovascularizations were 26.1mm2±4.2mm2, significantly larger than the IRMAs(12.9mm2±4.7mm2, <i>P</i><0.05). The initial layers showed no statistic difference between the groups(<i>P</i>>0.05).<p>CONCLUSION: OCTA is an effective method for detecting both IRMA and neovascularization in DR. IRMA and associated neovascularization had significantly different clinical characteristics that can be differentiated by OCTA, and therefore may be useful to better understand pathophysiological mechanisms and to guide efficient therapeutic strategies for DR patients.
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This work investigates the effects of Guilingji (GLJ) on D-galactose-induced aging and changes in serum metabolites by UHPLC-Q exactive orbitrap-MS in rats. The rat model of aging by subcutaneous injection of D-galactose (300 mg·kg-1) was used to analyze the effect of different concentrations of GLJ (37.5, 75, 150 mg·kg-1) on an open field test in aging rats. Rat serum was collected after 8 weeks and subjected to LC-MS to analyze the anti-aging effect of GLJ. Animal experimentation was approved according to the Committee on the Ethics of Animal Experiments of Shanxi University (SXULL2014032). GLJ significantly improved the autonomous activity of rats. Compared with the control group, 23 metabolites in the treated group changed significantly, involving three main pathways. The group that was given GLJ had altered regulation of 4 serum metabolites in two pathways. Our results indicate that GLJ can delay aging behavior in rats; the mechanism of this anti-ageing effect remains to be determined.
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Objective:To optimize the entropy TOPSIS model to evaluate the quality of Hemerocallis Flava from different regions,in order to provide a new evaluation method for the quality control of traditional Chinese medicine. Method:The entropy weight TOPSIS model optimized by analytic hierarchy process(AHP) method was used to analyze the quality of Hemerocallis Flava from 14 different regions, and a comprehensive evaluation index system for the quality of Hemerocallis Flava, which covered 3 layers (target layer,decision layer and index layer),and 10 indexes (corolla of Hemerocallis Flavathe's bud,pistils,stamens,peduncle length,extract,total ash,quercetin,β-rhamnocitrin,kaempferol,sitosterin) was established. Result:Qingyang showed the best quality of Hemerocallis Flava,which was followed by Weinan,and the lowest quality was found in Datong, Shanxi, and Xiaowan village, Sichuan. The results were consistent with the evaluation results of traditional empirical identification,suggesting the successful modeling. The contents of β-rhamnocitrin and kaempferol in Qingyang were 1.72 times and 2.74 times of those of Xiaowan village, Sichuan. There was no significant difference in other active ingredients from different regions. It was suggested that quercetin and kaempferol could be used as the identification and quality evaluation indexes of cauliflower. Conclusion:The entropy TOPSIS model based on the AHP method is clear,simple to use and easy to calculate, with distinct evaluation indexes. It is a practical,quick and effective comprehensive evaluation method for multi-objective decision analysis.
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The aim of the present study is to explore the role of miR-124 and its promoter region DNA methylation in homocysteine (Hcy)-induced atherosclerosis. ApoE(-/-) mice were fed with hypermethionine diet for 16 weeks to duplicate hyperhomocysteinemia model. Meanwhile, a normal control group (C57BL/6J mice fed with normal diet, N-control) and a model control group (ApoE(-/-) mice fed with normal diet, A-control) were set. The degree of atherosclerosis was observed by HE and oil red O staining. Automatic biochemical analyzer was used to detect the serum levels of Hcy. Foam cell model was duplicated and oil red O staining was used to confirm whether the model was successfully established. And foam cells were stimulated with 0, 50, 100, 200, 500 μmol/L Hcy and 50 μmol/L Hcy + 10 μmol/L AZC respectively. Real-time quantitative PCR (RT-qPCR) was used to detect the expressions of miR-124 in mice aorta and foam cells; Nested landing methylation specific PCR (nMS-PCR) was used to detect the levels of miR-124 promoter DNA methylation in mice aorta and foam cells. Meanwhile, the effects of DNA methylation inhibitor AZC on miR-124 expression were observed at the cellular level. The effect of miR-124 promoter DNA methylation status on lipid accumulation in foam cells was observed by oil red O staining. The results showed that compared with model control group, the serum levels of Hcy in high methionine group were significantly increased (P < 0.01) and developed aortic atherosclerotic plaque, the expression of miR-124 was markedly decreased (P < 0.01), while the levels of miR-124 promoter DNA methylation were significantly increased (P < 0.01). Given different levels of Hcy, the expression of miR-124 in foam cells was decreased, while the levels of miR-124 promoter DNA methylation were increased in a dose-dependent manner (P < 0.05, P < 0.01). AZC reversed the results of mentioned indices as above markedly (P < 0.05). Downregulation of miR-124 may play a role in Hcy-induced atherosclerosis and its promoter DNA methylation status may be an important mechanism in this process.
Subject(s)
Animals , Mice , Aorta , Metabolism , Apolipoproteins E , Atherosclerosis , Genetics , DNA Methylation , Diet , Foam Cells , Metabolism , Homocysteine , Hyperhomocysteinemia , Mice, Inbred C57BL , Mice, Knockout , MicroRNAs , Genetics , Promoter Regions, GeneticABSTRACT
Objective To analyze clinical diagnosis and treatment,aldehyde dehydrogenase 7 family member A1 (ALDH7A1) gene mutations in 1 Chinese child with pyridoxine dependent epilepsy(PDE).Methods The clinical manifestations and course of treatment were observed in a PDE patient with early epilepsy onset.Video-electroencephalogram(VEEG) and magnetic resonance imaging (MRI) were performed.The mutations of ALDH7A1 gene were examined.Results At the age of 2 months,recurrent epileptic seizures occurred and the child was resistant to antiepileptic drugs.Patient hospitalized several times due to frequent seizures and pyridoxine was used intravenously for several days.For each hospital stay,the frequent seizures were controlled completely under the treatment of pyridoxine and antiepileptic drugs.Seizures recurred at intervals of 13,14 and 38 days due to the treatment with antiepileptic drugs only without pyridoxine.Continuing oral pyridoxine without anticonvulsants led to seizure free for 5 months.No epileptiform discharges were found during several interictal VEEG monitoring and MRI showed normal.ALDH7A1 gene mutation analysis revealed two heterozygote mutations:c.410G ＞ A (p.G137E) in exon 5 that was transmitted from the father,and IVS11 + 1G ＞ A in intron 11 transmitted from the mother.Conclusions Early onset seizures have better response to pyridoxine and recurred after pyridoxine withdrawal in the patient,which suggested that he is a PDE patient.The interictal normal EEG could not rule out the possibility of PDE.This is the first report on ALDH7A1 mutations in PDE patient in China.Both the c.410G ＞ A(p.G137E) and IVS11 + 1G ＞ A mutations have not been reported previously.
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<p><b>OBJECTIVE</b>To investigate the effects of hepatitis B virus (HBV) in semen on human semen parameters and sperm DNA integrity.</p><p><b>METHODS</b>We detected HBV DNA in the semen samples of 153 HBsAg-seropositive patients by real-time fluorescence quantitative PCR and calculated the sperm nuclear DNA fragmentation index (DFI) by sperm chromatin dispersion (SCD) assay. We compared the semen parameters between the HBV DNA-positive group (A, n = 43) and HBV DNA-negative group (B, n = 110) and analyzed the correlation of sperm DFI with the number of HBV DNA copies in the semen.</p><p><b>RESULTS</b>HBV DNA was detected in 43 (28.1%) of the 153 semen samples. No statistically significant differences were observed in age, semen volume and sperm concentration between groups A and B (P >0.05). Compared with group B, group A showed significantly decreased sperm viability ([58.0 +/- 18.8]% vs [51.4 +/-17.1]%, P<0.05), progressively motile sperm ([29.6 +/- 13.3]% vs [24.5 +/- 10.1]%, P<0.05), average straight-line velocity ([23.7 +/- 4.0] microm/s vs [19.9 +/- 4.5 ] microm/s, P<0.01) and average path velocity ([26.5 +/- 7.0] microm/s vs [23.4 +/- 5.3] microm/s, P<0.01), but remarkably decreased sperm DFI ([19.3 +/- 8.0]% vs [24.2 +/- 9.4]%, P<0.01). The number of HBV DNA copies in semen exhibited a significant positive correlation with sperm DFI (r = 0.819, P < 0.01).</p><p><b>CONCLUSION</b>HBV DNA in semen is not significantly associated with the number of sperm, but may affect sperm viability, velocity and DFI. There is a load-effect relationship between the number of HBV DNA copies in semen and sperm nuclear DNA integrity.</p>
Subject(s)
Adult , Humans , Male , DNA Fragmentation , DNA, Viral , Hepatitis B Surface Antigens , Blood , Hepatitis B virus , Genetics , Semen Analysis , Sperm Count , Spermatozoa , VirologyABSTRACT
<p><b>OBJECTIVE</b>To explore the effect of oxymatrine (OMT) on JAK2/STAT3 signaling in renal tissues of rats with septic shock.</p><p><b>METHOD</b>The cecal ligation and puncture (CLP) was adopted to establish the rat septic shock model. Fifty-six male SD rats were randomly divided into 7 groups: the sham operation group, the model (CLP) group, CLP + OMT high, middle, low-dose (52, 26, 13 mg x kg(-1), vena caudalis bolus) groups and the positive control (CLP + dexamethasone, 10 mg x kg(-1)) group. The pathological changes in renal tissues were examined with lightmicroscope. BUN content was determined by urine enzymatic method. Expressions of tumournecrosis factor-alpha (TNF-alpha) and interleukin-1beta (IL-1beta) mRNA in renal tissues were determined by RT-PCR. Expression of JAK2 and STAT3 in renal tissues determined by Western blot. Changes in tumournecrosis factor-alpha (TNF-alpha) and interleukin-1beta (IL-1beta) contents in renal tissue were determined by radioimmunoassay.</p><p><b>RESULT</b>OMT of different doses could inhibit the JAK2 and STAT3 activation in renal tissues (P<0.05), and decrease the protein expression of JAK2, STAT3, TNF-alpha and IL-1beta mRNA (P<0.05). Besides, it could reduce TNF-alpha and IL-1beta contents in renal tissue homogenate (P<0.05), serum BUN content (P<0.05), and improve such lesions as tissue hyperemia, edema and inflammatory cell infiltration, with identical results in medium and high-dose OMT groups, and the positive control group.</p><p><b>CONCLUSION</b>OMT can inhibit JAK2/STAT3 signaling activity to reduce the expression of proin-flammatory factors (TNF-alpha, IL-1beta) and treat the renal injury in rats with septic shock.</p>
Subject(s)
Animals , Male , Rats , Alkaloids , Pharmacology , Gene Expression Regulation , Interleukin-1beta , Genetics , Metabolism , Janus Kinase 2 , Metabolism , Kidney , Metabolism , Pathology , Quinolizines , Pharmacology , Rats, Sprague-Dawley , STAT3 Transcription Factor , Metabolism , Shock, Septic , Blood , Metabolism , Pathology , Signal Transduction , Tumor Necrosis Factor-alpha , Genetics , MetabolismABSTRACT
<p><b>OBJECTIVE</b>Stem cells transplantation is a promising strategy in cardiology. This meta-analysis summarizes the efficacy and safety of stem cells transplantation on top of standard medication on chronic heart failure patients.</p><p><b>METHODS</b>The following databases were searched, including Cochrane Library (Issue 4, 2011), PubMed (1980 to 2011), Embase (1990 to 2011), CBM (1978 to 2011), CNKI (1994 to 2011), VIP (1989 to 2011), and WanFang Data (1998 to 2011). Search criteria:studies were screened and the quality was evaluated according to predefined inclusion and exclusion criteria. Intervention measures: the treatment group using stem cell transplantation therapy on top of standard drug treatment, while the control group using standard drug treatments.</p><p><b>RESULTS</b>A total of 31 studies involving 2375 patients were included. The results show that the improvement of LVEDV in the stem cell treatment group is greater than in the control group [SMD = -11.8% (95%CI: -0.223 - 0.013), P = 0.027] and the relative-risk of cardiac events is lower in stem cell treatment group [RR = 0.77 (95%CI: 0.66 - 0.90), P < 0.01] than in control group.</p><p><b>CONCLUSION</b>Stem cells therapy is effective in improving cardiac remodeling and reducing the relative-risk of cardiac events in patients with chronic heart failure.</p>
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Humans , Chronic Disease , Heart Failure , General Surgery , Stem Cell Transplantation , Ventricular RemodelingABSTRACT
This study was aimed to investigate the distribution of 1059 G/C gene polymorphism of C-reactive protein(CRP) in deep vein thrombus (DVT) and its clinical significance. Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) was used to screen 1059 G/C polymorphism in exon 2 of C-reactive protein gene in 61 cases of DVT and 60 healthy controls. The frequency of mutation was calculated. The results showed that there was no statistical difference of 1059 G/C genotype and mutation frequency of allele between deep vein thrombosis group and control group (p > 0.05). It is concluded that the 1059 G/C gene polymorphism of CRP displays certain difference in races and areas, and whether 1059 G/C gene polymorphism of CRP is a dangerous factor for deep vein thrombosis, which needs to be deeply explored.
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Adolescent , Adult , Aged , Aged, 80 and over , Female , Humans , Male , Middle Aged , Young Adult , C-Reactive Protein , Genetics , Case-Control Studies , Exons , Gene Frequency , Genotype , Polymorphism, Restriction Fragment Length , Venous Thrombosis , GeneticsABSTRACT
This study was purposed to investigate the correlation of deep vein thrombosis (DVT) with C-reactive protein (CRP), fibrinogen (Fg), coagulation factor VIII (FVIII:C), coagulation factor IX (FIX:C) and to explore the effect of inflammation and coagulation as well as their interaction in DVT and its mechanism. 59 patients with DVT undergoing selective venous ultrasonography and 26 healthy individuals as controls were enrolled in this study. The plasma level of CRP was detected by immunoturbidimetry, FVIII:C, FIX:C levels were determined by a one-stage assay and fibrinogen level was measured by full-automatic biochemical apparatus. The results showed that the mean levels of plasma CRP, Fg, FVIII:C and FIX:C were significantly higher in deep vein thrombosis group than that in controls [CRP (2.67 +/- 0.91) vs (0.14 +/- 0.08) mg/dl; Fg (4.73 +/- 1.36) vs (2.79 +/- 0.66)g/L; FVIII:C (126.71 +/- 28.10) vs (81.35 +/- 20.77)%; FIX:C (81.01 +/- 23.60) vs (70.71 +/- 11.3)%] (p < 0.01), and the level of plasma CRP was strongly correlated with Fg, FVIII:C and FIX:C (r(s) = 0.432, 0.571 and 0.544, p < 0.01). It is concluded that the DVT and inflammation are closely related, increased level of plasma CRP may be a predictor of DVT. Increased plasma levels of Fg, FVIII:C and FIX:C all are important risk factors to DVT. Interaction between inflammation and coagulation promote the incidence of DVT, which may be one of DVT pathogenesis.
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Adolescent , Adult , Aged , Aged, 80 and over , Female , Humans , Male , Middle Aged , Young Adult , Biomarkers , Blood , Blood Coagulation , C-Reactive Protein , Metabolism , Case-Control Studies , Factor IX , Metabolism , Factor VIII , Metabolism , Fibrinogen , Metabolism , Inflammation , Venous Thrombosis , BloodABSTRACT
<p><b>OBJECTIVE</b>To identify the relationship between coagulation factor V (FV) gene single nucleotide polymorphisms (SNPs) and venous thromboembolism (VTE).</p><p><b>METHODS</b>The FV clotting activity (FV: C) and FV antigen (FV: Ag) in plasma of VTE group (111 patients) and normal control (110 patients) were detected using one-stage clotting assay and ELISA, respectively. Five pairs of primers of the F V polymorphisms including Asp79His, Arg306The, Arg306Gly, Arg506Gln and Ile359The/His1299 Arg were synthesized and amplified by PCR. The PCR products were digested by restriction enzyme using PCR-RFLP. The detected polymorphisms were confirmed by direct sequencing. The samples containing the polymorphisms were screened for coding regions of all F V exons with direct sequencing.</p><p><b>RESULTS</b>The plasma levels of F V: C and F V: Ag of VTE group and normal control were (106.9 +/- 28.0)%, (110.4 +/- 33.3)% and (102.4 +/- 30.9)%, (102.1 +/- 24.1)%, respectively. The plasma level of FV: Ag was significantly different between VTE group and normal control. However, there was no difference in F V: C levels. Polymorphisms for the fore mentioned 5 primer pairs were not found in either patients or normal controls. Polymorphism of His1299Arg was identified in 5 patients with VTE and 3 normal controls. And these 5 cases also combined Met1736Val polymorphism, 3 of them combined another Asp2194Gly polymorphism.</p><p><b>CONCLUSION</b>The higher plasma level of F V: Ag contribute to venous thromboembolism. There is no relationship between polymorphisms of Asp79His, Arg306The, Arg306Gly, Arg506Gln, Ile359The and venous thromboembolism in Chinese studied. Polymorphism His1299Arg is higher in VTE group than in normal control, but has no statistical difference. Polymorphisms of His1299Arg, Met1736Val and Asp2194Gly are linked disequilibrium in Chinese Han population.</p>
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Female , Humans , Male , Middle Aged , Factor V , Genetics , Gene Frequency , Linkage Disequilibrium , Polymorphism, Single Nucleotide , Venous Thromboembolism , GeneticsABSTRACT
<p><b>OBJECTIVE</b>To investigate the current status of disabled children and prevalence of disabilities in children aged 0-6 years and their risk factors, and to provide scientific evidence for making relevant policies for disabled children.</p><p><b>METHODS</b>In a community-based cross-sectional study, multi-phase, stratified, unequal proportional and cluster sampling was adopted to survey 60 124 children aged 0-6 years. All the investigated children were screened for disabilities, and those with positive screening tests were further diagnosed by various specialties.</p><p><b>RESULTS</b>A total of 819 children were diagnosed as disabled with an overall prevalence of 1.362%, 0.155% for hearing disability, 0.160% for visual disability, 0.931% for intelligent disability, 0.424% for limb disability, and 0.101% for mental disability. Prevalence of disability in children was higher in rural areas, and in families with two or more children, low educational level or in divorced families.</p><p><b>CONCLUSION</b>The prevalence of disability can be reduced by economic development, improvement of health care and quality of population, as well as harmonious familial relationship, early prevention of disability, and preschool education for disabled children.</p>
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Child , Child, Preschool , Humans , Infant , Infant, Newborn , Blindness , Epidemiology , China , Epidemiology , Disabled Persons , Hearing Loss , Epidemiology , Intellectual Disability , Epidemiology , Limb Deformities, Congenital , EpidemiologyABSTRACT
<p><b>OBJECTIVE</b>To explore the epidemiological status of disabilities on vision impairment (VI), hearing loss (HL), mental retardation (MR), autism spectrum disorder (ASD) and motor disorder (MD) in aged 0-6 years old children in Beijing.</p><p><b>METHODS</b>A total of 28 738 children under 7 years old were recruited from permanent residents of Beijing City by 2-phase cluster sampling. The screening procedure was 2-phase, and the diagnosis criteria were developed by the experts group.</p><p><b>RESULTS</b>The overall disability rate was 11.45 per thousand (95 % CI:10.22-12.68). The false negative rates in HL and ASD were 0.14 per thousand, 0.80 per thousand, respectively, with a adjusted overall rate of 12.19per thousand. The prevalence rates of different kind disabilities from high to low were MR 9.31per thousand, MD 2.12per thousand, ASD 1.53per thousand (0.73per thousand before adjusted), HL 1.04per thousand (0.91per thousand before adjusted) VI 0.73per thousand. The results of logistic regression analysis showed that the possible non-biological risk factors for those disabilities were being male, living in city area, advancing age, mother with low education, mother engaged in labor work, and family with low income. It was primarily (49.62%) those prenatal factors other them the known suspected factors that causing disabilities.</p><p><b>CONCLUSIONS</b>Compared with data from a countrywide study in 1987, the overall disability rate had a mild decrease (16.36%) with the most (56.85%) appeared in HL. It is indispensable to establish a disabilities surveillance program for the early recognition and intervention of children with disabilities. It is also crucial to clarify a disability definition for children combined with their characteristics of growth and development. We strongly recommended in developing a new definition on children' disabilities and establishing new criteria according to the contents of developmental disabilities of Center for Disease Control, USA.</p>
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Child, Preschool , Female , Humans , Infant , Infant, Newborn , Male , Age Distribution , Child Development Disorders, Pervasive , Epidemiology , China , Epidemiology , Cross-Sectional Studies , Disabled Children , Educational Status , Health Surveys , Hearing Loss , Epidemiology , Income , Intellectual Disability , Epidemiology , Motor Skills Disorders , Epidemiology , Occupations , Parents , Risk Factors , Sex Distribution , Vision Disorders , EpidemiologyABSTRACT
<p><b>OBJECTIVE</b>To describe the epidemiology of neural tube defects (NTDs) in high- and low-prevalence areas of China.</p><p><b>METHODS</b>Birth defects surveillance data, collected from 1992 through 1994 was analyzed. These data were collected as part of the Sino-American cooperative project on NTDs prevention. We classified NTDs as anencephaly, encephalocele, high-level and low-level spina bifida (SB) according to location of the lesion (high vs low) and whether the defect was isolated or occurred in association with other birth defects. Rates were compared in the high-prevalence (North) region and the low-prevalence (South) region, after adjusted for classification, urban and rural, season and sex, and calculated the adjusted rate of NTDs.</p><p><b>RESULTS</b>Among seven hundred and eighty-four NTDs cases in 326 874 recorded births (include in livebirth, stillbirth and fetal death with a gestational age of at least 20 weeks), the overall NTDs prevalence in the North was 5.57/1,000 births, and in the South was 0.88/1 000. There were also significant differences in the prevalence of anencephaly, encephalocele, high-level and low-level SB between North (0.97, 0.49, 2.75 and 1.11/1,000 birth) and South (0.36, 0.15, 0.21 and 0.14/1,000 birth) (P < 0.01), with adjusted prevalences in the North 3 - 7 times higher than those in the South. There were significant difference between urban (2.04) and rural areas (6.57/1,000 birth) in the North (P < 0.01), urban (0.52) and rural areas (0.95/1,000 birth) in the South (P < 0.05). Adjusted prevalence rates in the rural were 3 - 4 times higher than those of urban in the North and 1.6 - 1.9 times higher than in the South; The seasonal rate of high-level SB increased between September and November in the North (3.44/1,000 birth), while the seasonal rate of anencephaly decreased between September and November (0.18/1,000 birth) in the South. However there were no seasonal changes in other classified NTDs both in the South and North.</p><p><b>CONCLUSIONS</b>The birth prevalence of NTDs in the North of China was the highest in the world. There were significant differences between the North and the South, urban and rural. There was seasonal change in high-level SB in the North, which was in accordance to the phenotype of NTDs. It was suggested that there might exist etiological heterogeneity among anecephalus, low- and high-level SB.</p>