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OBJECTIVE@#To explore the genetic basis for a fetus with cleft lip and palate.@*METHODS@#Copy number variations (CNVs) in the fetus and his parents were detected with chromosomal microarray analysis (CMA).@*RESULTS@#As revealed by the CMA assay, the fetus has carried a 228 kb deletion in Xp11.22 region and a 721 kb duplication in 9p21.1. Both CNVs were inherited from the parents. The CNV in Xp11.22 was predicted to be pathogenic by involving the PHF8 gene, whilst the CNV in 9p21.1 was predicted to be benign.@*CONCLUSION@#Deletion of the Xp11.22 region probably underlies the cleft lip and palate in this fetus.
Subject(s)
Female , Humans , Pregnancy , Chromosome Deletion , Chromosomes, Human, X , Genetics , Cleft Lip , Diagnosis , Genetics , Cleft Palate , Diagnosis , Genetics , DNA Copy Number Variations , Fetus , Histone Demethylases , Microarray Analysis , Methods , Prenatal Diagnosis , Transcription FactorsABSTRACT
Objective To observe the clinical efficacy of needle warming therapy plus pelvic floor muscle training in treating post-stroke neurogenic bladder.Method A total of 124 patients with post-stroke neurogenic bladder were divided into a treatment group and a control group by random number table, 62 cases in each group. The treatment group was intervened by acupuncture, moxibustion plus pelvic floor muscle training; the control group was intervened by Chinese patent drugs. The intervention was conducted with 2 weeks as a treatment course, for 3 treatment courses in total. The daily voiding frequency test and maximum cystometric capacity (MCC) in the two groups were measured before and after the intervention, and the clinical efficacies were compared between the two groups.Result Each item of the daily voiding frequency test in the two groups was significantly changed after the treatment (P<0.01). Each item of the daily voiding frequency test in the treatment group was significantly different from that in the control group after the treatment (P<0.01). The MCC was significantly changed after the intervention in both groups (P<0.01). The MCC in the treatment group was significantly different from that in the control group after the treatment (P<0.01). The recovery rate and total effective rate were respectively 35.5% and 96.8% in the treatment group versus 19.4% and 77.4% in the control group. There were significant differences in comparing the total effective rate (P<0.01) and the recovery rate between the two groups (P<0.05).Conclusion Needle warming therapy plus pelvic floor muscletraining can produce a significant therapeutic efficacy in treating post-stroke neurogenic bladder, and the therapeutic efficacy is obviously better than that of medication.
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ObjectiveTo observe the clinical efficacy of electroacupuncture plus herbal-partitioned moxibustion in treating temporomandibular joint disorder.MethodNinety patientswith temporomandibular joint disorder were randomized into a treatment group of 45 cases and a control group of 45 cases. The treatment group was intervened by electroacupuncture plus herbal-partitioned moxibustion, while the control group was by medication. The therapeutic efficacy was evaluated after 3 treatment courses by a specially-assigned person.ResultThe recovery rate and total effective rate were respectively 64.4% and 97.8% in the treatment group versus 37.8% and 82.2% in the control group, andthe total effective rate and recovery rate in the treatment group were significantly higher than that in the control group (P<0.05); regarding the comparison of the efficacy and treatment duration of the recovered subjects, the recovery rates at the end of the 1st course, 2nd course and 3rd course in the treatment group were all markedly higher than that in the control group (P<0.05), indicating that electroacupuncture plus herbal-partitioned moxibustion can shorten the period of treatment for temporomandibular joint disorder. The therapeutic efficacy of the treatment group was significantly superior to that of the control group(P<0.05).ConclusionElectroacupuncture plus herbal-partitioned moxibustion can produce a significant efficacy in treating temporomandibular joint disorder.
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<p><b>OBJECTIVE</b>To identify the genetic cause for a child with mental retardation and dyskinesia.</p><p><b>METHODS</b>After the routine genetic counseling for the child and the core family members, conventional peripheral blood karyotyping with G-banding and tandem mass spectrometry were applied to find the common genetic problems. Array-comparative genomic hybridization (aCGH) based on the whole genome level was performed to detect minor chromosomal structural abnormalities and the result was confirmed by multiplex ligation dependent probe amplification (MLPA).</p><p><b>RESULTS</b>The proband's karyotype was normal. There were not obvious abnormalities for the testing of 26 types of congenital metabolic diseases. A -2.11 Mb microdeletion of chromosome 9q34.11 region was found though aCGH, which including SPTAN1, TOR1A and other nearly 50 genes related to mental retardation, early infantile spasms, epileptic encephalopathy, myelin dysplasia and dystonia. The -2.11 Mb chromosomal microdeletion was identified by MLPA.</p><p><b>CONCLUSION</b>The 2.11 Mb microdeletion of chromosome 9q34.11 region may lead to suspected cerebral palsy. Cytogenetic methods combined with MLPA and aCGH can efficiently identify genetic etiology and provide accurate results for clinical diagnosis.</p>
Subject(s)
Child, Preschool , Humans , Male , Cerebral Palsy , Genetics , Chromosome Deletion , Chromosomes, Human, Pair 9 , Genetics , KaryotypingABSTRACT
Objective: To observe the clinical efficacy of warm needling combined with iontophoresis of Chinese medicine for temporomandibular joint disorder (TMD). ＜br> Methods: A total of 100 TMD cases were randomly allocated into a treatment group and a control group, 50 in each group. Cases in the treatment group were treated with warm needling combined with iontophoresis of Chinese medicine, whereas cases in the control group were treated with Western medication. The therapeutic efficacies in two groups were assessed after three courses of treatment. ＜br> Results: The recovery rate and total effective rate were 54.0% and 98.0% respectively in the treatment group, versus 30.0% and 82.0% in the control group, showing significant differences (bothP＜0.05). The recovery rates in the treatment group were higher than those in the control group respectively after 1, 2 and 3 courses of treatment, indicating that warm needling combined iontophoresis of Chinese medicine could substantially shorten the course of treatment. ＜br> Conclusion: Warm needling combined with iontophoresis of Chinese medicine is remarkably effective for TMD and deserves further clinical application.
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Objective To investigate the relationship between high sensitive C reactive protein(hsCRP) and monocyte chemotactic protein-1 (MCP-1) in patients with metabolic syndrome(MS).Methods Sixty-two patients with MS and 52 normal healthy individuals (NS) were recruited in the study.And the levels of hs-CRP and MCP-1 were detected by ELISA.The severity of Insulin resistance was calculated by homeostasismodel assessment of insulin resistance(HOMA-IR).The monocytes in blood were isolated,cultured and stimulated by different concentrations of CRP.MCP-lexpression of monocytes was measured by real-time PCR.Results Patients with MS displayed significantly higher serum levels of hs-CRP and MCP-1 compared with healthy control group [(80.26 ±35.52) nmol/L vs (3.12 ±2.55) nmol/L for hs-CRP,P ＜0.01 ; (15.35 ± 10.12) nmol/L vs (9.76 ± 6.15) nmol/L for MCP-1,P ＜ 0.05].There was significantly positive correlation between hs-CRP and MCP-1.Serum hs-CRP,MCP-1and insulin resistance index were positively correlated,respectively.In vitro experiments indicated that CRP could up-regulate MCP-1 expression of monocytes in a concentration-dependent way.When the concentration of CRP was 176nmol/L,the expression of MCP-1 could reach 105％ compared with non-stimulated group.Conclusion With the severity of the inflammatory response and enhanced insulin resistance,elevated serum CRP level may result in MCP-1 expression in patients with metabolic syndrome.
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@#Objective To observe the effect of acupuncture and acupoint injection on dementia in elder.Methods 38 old dementia patients were divided into senile dementia(Alzheimer's disease,17 cases)and vascular dementia(21 cases).They were treated with acupuncture and acupoint injection with Piracetam.Results 7 cases improved in senile dementia patients,while 2 cases were excellent,7 cases were good,9 cases improved in vascular dementia patients.Conclusion Acupuncture and acupoint injection with Piracetam is more effective on senile dementia than vascular dementia.
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ive] Therapeutic effect of western medicine combined with Chinese herbal medicine for central serous chorioretinopathy (CSC) is observed. [Methods] Sixty-four patients with CSC were ran domly allocated to Group A ( n = 33) and Group B ( n = 31) . Group B were treated only with routine western medicine, and Group A added with Chinese herbal medicine with the actions of nourishing liver and kidney, invigorating spleen for eliminating dampness and activating blood-flow to remove blood-sta sis. Plasma catecholamine (CA) content and the activities of tissue plasminogen activator (tPA) and plasminogen activator inhibitor (PAI) were measured before and after treatment. [Results] The cure rate was 57.58% and 32.26%in Group A and Group B respectively, the difference being significant (P