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ObjectiveTo investigate the short-term efficacy of orthopedic elastic bandages on gait symmetry and walking ability in children with spastic hemiplegic cerebral palsy. MethodsFrom June, 2020 to June, 2023, 31 children with spastic hemiplegic cerebral palsy from Beijing Bo'ai Hospital were randomly divided into control group (n = 15) and experimental group (n = 16). Both groups received routine rehabilitation, while the control group received routine walking training, and the experimental group wore an orthopedic elastic bandage for walking training, for four weeks. The indexes of gait symmetry of foot deviation angle ratio (affected/healthy), step length ratio (affected/healthy), gait line ratio (affected/healthy) and standing stage ratio (affected percentage/healthy percentage) were calculated before and after training, and they were measured step width and the optional and maximum walking speed of 10-meter walk test (10MWT). ResultsOne case dropped off in the experimental group. After training, the foot deviation ratio, step length ratio, gait line ratio, and standing stage ratio improved in both groups (|t| > 2.434, P < 0.05), and they were better in the experimental group than in the control group (|t| > 2.230, P < 0.05); while the optional and maximum walking speed of 10MWT improved in both groups (|t| > 9.186, P < 0.001), and they were better in the experimental group than in the control group (|t| > 2.278, P < 0.05). ConclusionWearing orthopedic elastic bandages during rehabilitation can promote the gait symmetry and walking ability of children with spastic hemiplegic cerebral palsy.
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Objective:To investigate positive rates of varicella-zoster virus (VZV) DNA in blood and saliva samples, as well as in swab samples from lesions and clothes in contact with lesions in patients with acute herpes zoster, and to explore their clinical significance.Methods:Patients with confirmed herpes zoster were collected from Department of Dermatology, Shenzhen Hospital, Southern Medical University from April 2019 to August 2020. Fluorescence-based quantitative PCR was performed to detect VZV DNA in blood and saliva samples, lesion and cloth swab samples from the patients before and after antiviral treatment. Chi-square test was used to compare the positive rate of VZV DNA in saliva samples between patients with herpes zoster on the head, face and neck and those without involvement of the head, face or neck, and changes in the positive rate of VZV DNA in different specimens were analyzed before and after treatment.Results:A total of 86 patients with herpes zoster were collected, including 26 males and 60 females aged 52.65 ± 14.83 years, with a disease duration being 5.23 ± 2.10 days. The positive rate of VZV DNA in the saliva samples was significantly higher in the 24 patients with herpes zoster on the head, face and neck (41.67%, 10/24) than in the 62 patients without involvement of the head, face or neck (12.90%, 8/62; χ2 = 7.63, P < 0.05) . Both pre- and post-treatment blood samples were collected from 37 patients, saliva samples from 35, lesion swab samples from 28, and cloth swab samples from 27. Before the treatment, the positive rates of VZV DNA in the blood, saliva, lesion and cloth swab samples were 86.49% (32/37) , 22.86% (8/35) , 92.86% (26/28) and 88.89% (24/27) respectively, which decreased to 51.35%, 8.57%, 89.29% and 85.18%, respectively, after 6.82 ± 2.23 days of treatment. The positive rate of VZV DNA significantly differed before and after treatment only in the blood samples ( χ2 = 9.60, P = 0.003) , while showed no significant difference in the other specimens (all P > 0.05) . Conclusion:The positive rate of VZV DNA in the saliva samples was significantly higher in the patients with acute herpes zoster on the head, face and neck than in those without involvement of the head, face or neck, and that in the cloth swab samples was relatively high before and after antiviral treatment.
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Multicolor imaging (MCI) based on confocal scanning laser ophthalmoscopy can gather more diagnostic information than traditional fundus photographs through utilizing three wavelengths of laser to scan posterior retina, which gain different layer reflected signal since the depth of penetration into retina is different for each wavelength. Currently, it provides important information and reference value for diagnose of different layer diseases on retina or choroid combining MCI with OCT, FAF, FFA and so on. However, there are still misunderstandings in the diagnosis of retinal diseases with MCI. Careful observation of retinal details in MCI, CFP and other imaging methods is more conducive to the correct diagnosis of fundus ophthalmopathy.
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Objective To analyze the characteristics of genotyping and gene polymorphism of Neisseria gonorrhoeae(N.go) with azithromycin(AZM)-resistance(AZM-R) and decreased susceptibility to ceftriaxone(CROD).Methods The minimum inhibitory concentration(MIC) of AZM and CRO were determined.AZM-R isolates were detected for mutations in 23S rRNA,mtrR and penA genes.Genotypes were analyzed by using N.go multi-antigen sequence typing(NG-MAST).Results All total of 485 isolates of N.go were detected.77(15.9%) strains were AZM-R(MIC≥1 mg/L),including 33(6.8%) isolates of AZM low-level resistant(AZM-LLR,MIC=1 mg/L) strains and 44(9.1%) isolates of AZM middle-level resistant(AZM-MLR,MIC≥2 mg/L) strains.There were more CROD(MIC≥0.125 mg/L) strains in AZM-MLR isolates(43.2%),compared with those in AZM-LLR isolates(18.2%,P0.05).Similar results were found between combined AZM-LLR/CROD isolates and combined AZM-MLR/CROD isolates(P>0.05).No mutation of A2059G and AZM high-level resistant(AZM-HLR,MIC≥256 mg/L) isolate were found.Among 77 AZM-R isolates,67 sequence types(ST) were identified by NG-MAST,of which 30 types were novel.Most ST were represented by a single isolate.Conclusion AZM-R and CROD isolates,presented in this area,might be deserved continuous surveillance to identify the mechanism of concurrent resistance.
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<p><b>OBJECTIVE</b>To identify potential mutations of the FLG gene in two Chinese families affected with ichthyosis vulgaris.</p><p><b>METHODS</b>All coding exons and exon-intron boundary of the FLG gene were amplified by polymerase chain reaction (PCR) and analyzed by direct sequencing. The results were compared with those of 100 unrelated healthy controls.</p><p><b>RESULTS</b>Two novel missense mutations, c.1360A>G (p.T454A) and c.10363G>T (p.D3455Y), were detected in all affected individuals from family 1 and family 2 respectively but none of the controls.</p><p><b>CONCLUSION</b>The c.1360A>G (p.T454A) and c.10363G>T (p.D3455Y) of the FLG gene may lead to alteration of the structure and function of the FLG protein and cause ichthyosis vulgaris in the two families.</p>
Subject(s)
Female , Humans , Male , Asian People , Genetics , Base Sequence , China , DNA Mutational Analysis , Exons , Genetics , Family Health , Genetic Predisposition to Disease , Ethnology , Genetics , Ichthyosis Vulgaris , Ethnology , Genetics , Intermediate Filament Proteins , Genetics , Introns , Genetics , Mutation, Missense , PedigreeABSTRACT
Objective To explore the role of type Ⅶ collagen (COL7A1) gene in the pathogenesis of pretibial dominant dystrophic epidermolysis bullosa (DDEB-Pt).Methods Peripheral blood samples were obtained from a sporadic Chinese patient of Han nationality with DDEB-Pt,his parents and 100 healthy human controls.A modified salting-out method was used to extract genomic DNA from the blood samples,and PCR was performed to amplify 118 exons of the COL7A1 gene followed by DNA sequencing.Results A G→A mutation was identified at position 6109 (G6109A) in exon 78 of the COL7A1 gene in this patient,which caused a change from GCT to ACT at codon 2037 in the triple helix region,and resulted in the substitution of glycine (Gly) by arginine (Arg) (p.Gly2037Arg).Conclusion A novel glycine substitution mutation was identified in the COL7A1 gene in the patient with DDEB-Pt,which may be a pathogenic mutation.
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Objective To investigate the clinical and genetic characteristics of a progressive symmetric erythrokeratoderma (PSEK).Methods The clinical and genetic characteristics of a PSEK were compared and analyzed with clinical collection and review of 17 PSEK families reported in China since 1980.Results PSEK was consistent with autosomal dominant inheritance.PSEK had the feature with incomplete penetrance and variable expression.The clinical features included hyperkeratotic plaques with distinct border and strikingly symmetric distribution pattern on the extremities.Part of patients was extended to other areas of the body.The onset of the disease commonly started in infancy or childhood.The general health condition was not affected.PSEK might be associated with other clinical symptoms.The diseased potential increased in the family of consanguineous marriage.Conclusions PSEK has genetic heterogeneity.Its causative genes have not been determined.Further studies are needed.
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Objective To compare the efficacy of photodynamic therapy (PDT) alone or in combined with ranibizumab versus ranibizumab monotherapy (intravitreal injection,IVR) in patients with polypoidal choroidal vasculopathy (PCV).Methods 80 eyes of 72 patients with PCV were enrolled into this retrospective and comparative study according to their therapeutic plan.30 eyes of 28 patients,28 eyes of 30 patients and 22 eyes of 21 patients were divided into PDT group,ranibizumab 0.5 mg group (IVR group) or the combination group,respectively.The patients with PCV were diagnosed according to clinical symptoms,optical coherence tomography (OCT) and fluorescent indocyanine green angiography (ICGA).The baseline best-corrected visual acuity (BCVA) before treatment was more than 0.05,and there was no retinal fibrosis and scar for all patients.There was no statistical difference of age (F=0.187),gender (x2 =0.423),average BCVA (F=1.120) and central retinal thickness (CRT) (F=0.431) among three groups (P＞0.05).They had not received any treatment before.Patients received verteporfin PDT in PDT group,3 consecutive monthly IVRs starting day 1 in IVR group,and 3 IVRs after 3 days,1 month,2 months of PDT starting day 1 in combination group.Re-treatment was considered 3 months later if the follow up shown no changes in fundus photography,OCT and ICGA.The average follow-up time was 19 months.BCVA at baseline and follow-up visit at 1,3,6,12 months was measured,and the proportion of patients with ICGA-assessed complete regression of polyps at month 6 was recorded as primary outcome.The CRT was measured at baseline and 6 months as secondary outcome.Results There were significant difference of BCVA at 1,3,6 and 12 months among three groups(F=5.480,5.249,3.222,4.711;P＜0.05).The average BCVA was significantly better at 1,3,6,12 month than that at baseline(t =-6.632,-4.127,-3.904,-4.494;P＜ 0.05) in combination group,and was significantly better at 3,6,12 months than that at baseline (t=-5.636,-3.039,-3.833;P＜0.05) in IVR group.However there was no significant difference of the average BCVA in PDT group between follow-up at 1,3,6,l 2 months and baseline (t=1.973,0.102,-0.100,-0.761;P＞0.05).The proportion of patients with complete regression of polyps at 6 months was higher in PDT (76.7％) or combination group (68.2％) than IVR group (35.7％) (x2=0.003,0.025;P＜0.05).There was no significant difference of CRT among 3 groups at baseline (P=0.651).The mean CRT decreased in all 3 treatment groups over 6 months (t=5.120,3.635,5.253;P＜0.05),but there was no significant difference of CRT among 3 groups (F=1.293,P＞ 0.05).Conclusions Three therapies could effectively decrease CRT.IVR or IVR combined with PDT are both more effective than PDT therapy to improve vision of PCV patients.PDT or PDT combined with IVR was superior to IVR pnly in achieving complete regression of polyps in 6 months in PCV patients.
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Objective To investigate the role of regulatory T (Treg) / T helper type 17 (Th17) cells in the pathogenesis of chronic spontaneous urticaria (CSU).Methods Eighty-nine patients with CSU were enrolled in this study,including 48 in active stage and 41 in remission stage.Forty-eight health check-up examinees,who were collected from the community hospitals in Guangzhou city,served as the healthy controls.Fluorescence-based realtime quantitative PCR was performed to determine the expression of transcription factors FOXP3 and RORγt in PBMCs from these subjects.Results Compared with the patients with CSU in remission stage and healthy controls,the patients in active stage showed a significantly higher level of FOXP3 mRNA (0.57 ± 0.19 vs.0.11 ± 0.21 and 0.13 ± 0.23,both P ＜ 0.05),but a significantly lower level of RORγt mRNA (0.43 ± 0.39 vs.0.89 ± 0.40 and 0.87 ± 0.43,both P ＜ 0.05).Conclusions The expression of Treg cell regulator FOXP3 increases,while the expression of Th17 cell regulator RORγt decreases in patients with CSU,suggesting that the imbalance between Treg and Th17 cells induced by the interaction between FOXP3 and RORγt may be involved in the pathogenesis of CSU.
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ObjectiveTo detect the mutations of GJB3 and GJB4 genes in two sporadic cases of erythrokeratodermia variabilis(EKV).MethodsGenomic DNA was extracted from two sporadic patients with EKV,their family members,and 100 normal human controls.All the exons and adjacent splice sites of GJB3 and GJB4 genes were amplified by PCR.Mutation scanning was carried out via direct bidirectional DNA sequencing.ResultsA G134C mutation was found at the GJB3 gene in patient 1,which caused a substitution of glycine by alanine at codon 45 (G45A).No mutation was found in the GJB4 gene in case 1 or GJB3 and GJB4 genes in case 2.ConclusionA missence mutation G45A in GJB3 gene is found in a patient with EKV.
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Objective To compare the sensitivity and specificity of venereal disease research laboratory (VDRL) test versus several other laboratory tests in the diagnosis of neurosyphilis. Methods Lumber puncture was conducted to obtain cerebrospinal fluid (CSF) from untreated outpatients with latent syphilis (LS) or serofast outpatients with LS. Then, VDRL test, rapid plasma regain (RPR) test, Treponema pallidum particle agglutination (TPPA) assay, fluorescent treponemal antibody-absorption (FTA-ABS) test and protein quantification were performed on these CSF samples. The sensitivity, specificity, positive predictive value and negative predictive value were compared between VDRL test and four other laboratory tests in the diagnosis of neurosyphilis. Results Totally, 61 cases of latent syphilis were included in this study. The sensitivity, specificity,positive predictive value and negative predictive value were 93.44% (57/61), 99.32%(293/295), 96.61%(57/59), 98.65% (293/297)for CSF-RPR, respectively, 91.80% (56/61), 82.71% (244/295), 52.34% (56/107),97.99 (244/249) for CSF-TPPA, respectively, 93.44% (57/61), 82.71% (244/295), 52.78%(57/108), 98.39%(244/248) for CSF-FTA-ABS, respectively, and 49.18%(30/61), 97.29% (287/295), 78.95% (30/38),90.25% (287/318) for CSF protein quantification, respectively. Conclusions CSF-VDRL cannot be replaced by CSF-RPR, -TPPA, -FTA-ABS, or CSF protein quantification in the diagnosis of neurosyphilis. CSF-RPR shows a high sensitivity and specificity in the diagnosis of neurosyphilis, with an increased diagnostic capability (area under the receiver operating characteristic curve) compared with CSF-TPPA, CSF-FTA-ABS or CSF protein quantification.
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Objective To evaluate the relationship of clinical symptom to plasmic levels of D-dimer, activated factorⅦ (FⅦa) and tissue factor pathway inhibitor (TFPI)/X a in patients with urticaria. Methods A total of 27 patients with chronic urticaria (CU), 27 patients with acute urticaria (AU) and 26 normal human controls were included in this study. Symptom score was determined and disease course was surveyed in these patients. ELISA was used to detect the plasma levels of D-dimer, FⅦa and (TFPI)/Xa in patients and controls. The relation of clinical symptom and disease course to plasma levels of these parameters was assessed. Results In patients with AU and normal controls, the plasma level of D-dimer was 450.57± 242.13 ng/mL and 266.81±40.68 ng/mL, respectively, the level of FⅦa, 2.23± 0.74 ng/mL and 5.23±1.35 ng/mL, respectively, and the level of TFPI/Xa 0.87±0.13 nmol/L and 0.88 ~ 0.12 nmol/L, respectively. There was a significant difference in the level of both D-dimer and FⅦa (both P < 0.01 ), whereas no differ-ence was observed in that of TFPI/X a (P > 0.05) between patients with AU and normal controls. In addi-tion, increased level of D-dimer and decreased level of FⅦa were noticed in patients with CU compared with those in normal controls (593.80±294.04 ng/mL vs 266.81±40.68 ng/mL, 3.98±0.35 ng/mL vs 5.23± 1.35 ng/mL, both P < 0.01 ), but there was no significant difference in the plasma level of TFPI/Xa (0.87± 0.16 nmol/L vs 0.88±0.12 nmol/L, P > 0.05). Significant difference was observed in the plasma level of D-dimer and FⅦa between patients with AU and CU (450.57±242.13 ng/mL vs 593.80 ±294.04 ng/mL, P < 0.05; 2.23± 0.74 ng/mL vs 3.98± 0.35 ng/mL, P<0.01 ). The plasma level of D-dimer positively corre-lated to the symptom score of patients with CU and those with AU (r= 0.68, P< 0.01; r= 0.82, P< 0.01),but was independent of discase course (P> 0.05). Neither the level of FⅦa nor that of TFPI/Xa correlated to symptom score or disease course of patients (all P > 0.05). Conclusions There is an overactivation of coagulation cascade, consumption of blood coagulation factors and secondary fibrinolysis in patients with urticaria, suggesting that plasma D-dimer and FⅦa may be associated with the clinical symptoms of urticaria.
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Objective To map the locus of the gene CYLD1 for multiple familial trichoepithelioma (MFT), and identify the mutation of this gene in a large Chinese Han family with MFT. Methods The local genome scan was performed using 18 microsatellite markers spanning 9p21 and 16q12-q13 in this MFT family. Linkage software was used for two-point linkage analysis. All 17 coding exons of the CYLD1 gene and the adjacent splice sites were amplified using PCR. Mutation scanning was carried out by DNA sequencing. Results ① Two-point linkage analysis revealed a LOD score of 3.31 under the assumption of an autosomal dominant inheritance with disease-allele frequency of 0.00001 and penetrance of 99.9%. ② A four-basepair deletion of exon 18 in the CYLD1 gene was detected, designated c.2355-2358delCAGA. Conclusions Multiple familial trichoepithelioma is a genetically heterogeneous disorder. The gene CYLD1 for this MFT family localizes to 16q12-q13, not 9p21.