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AIM: To investigate the visual quality of LENTIS Comfort Toric intraocular lens implantation in cataract surgery.METHODS: A retrospective controlled clinical study was conducted on 40 patients(40 eyes)who received phacoemulsification combined with intraocular lens implantation assisted by digital navigation, with LENTIS Comfort Toric(MF15T)implanted in group A(24 eyes)and monofocal Toric intraocular lens implanted in group B(16 eyes). The visual acuity at different distances, the postoperative astigmatism center of mass value, the lens loss rate, the change of defocus curve and the stability of intraocular lens were observed at 3mo after surgery.RESULTS: There were no serious complications in both groups, and there was no significant difference in distance vision between group A and group B at 3mo after surgery(P>0.05); the visual acuity and near vision in group A were significantly better than those in group B(P<0.01); the postoperative lens loss rate in group A was 99%, and it was 45% in group B(P<0.05); the value of astigmatism center of mass in 3mo after surgery was improved compared with that before surgery, and there was no significant difference between groups(P>0.05); the defocus curve of group A peaked at +0.50 and -1.75D at 3mo after surgery, forming plateau and gently declining, while group B showed a steep decline after peaks at +0.25 and -0.25D. One eye(4%)in group A had the axial rotation of intraocular lens greater than 10° at 1d after surgery; In group B, 6 eyes(38%)had axial rotation of intraocular lenses greater than 10°, 2 eyes(33%)rotated clockwise, and 4 eyes(67%)rotated counterclockwise. No intraocular lens displacement occurred in either group.CONCLUSION: Both kinds of intraocular lenses can correct astigmatism, among which LENTIS Comfort Toric intraocular lens can provide personalized choices for people with cataract and astigmatism, solve astigmatism and obtain full visual acuity at the same time, with low incidence of postoperative optical interference, better stability, high visual quality and satisfaction.
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The purpose of this study was to systematically analyze the antidepressant mechanism of Chaigui granules from the perspective of biological metabolic network by using integrated metabolomics and biological network analysis tools. The model of chronic unpredictable mild stress (CUMS) depression rat was established, and LC-MS-based plasma metabolomics was used to identify the key metabolites and analyze metabolic pathways underlying the antidepressant effects of Chaigui Granules. The key metabolites regulated by Chaigui granules was integrated with biological network analysis tools to further focus on the key metabolic pathways and explore the potential targets of the antidepressant effect of Chaigui granules. The results showed that there were significant differences in the plasma levels of 20 metabolites in the model group compared with the control group (P < 0.05), Chaigui granules significantly regulated 12 metabolites including docosatrienoic acid, 3-hydroxybutyric acid, 4-hydroxybenzaldehyde, chenodeoxycholic acid, cholic acid, L-glutamine, glycocholic acid, linoleyl carnitine, L-tyrosine, N-acetylvaline, palmitoylcarnitine, arachidonic acid. Further network analysis of the key metabolites regulated by Chaigui granules indicated that plasma arachidonic acid metabolism might be the core pathway for the antidepressant effect of Chaigui granules, with 10 proteins were potential targets for the antidepressant effect of Chaigui granules, including CYP2B6, CYP2E1, CYP2C9, CYP2C8, PLA2G6, PTGS2, ALOX15B, PTGS1, ALOX12 and ALOX5. The animal experimental operations involved in this paper was followed the regulations of the Animal Ethics Committee of Shanxi University and passed the animal experimental ethical review (Approval No. SXULL2020028).
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@#AIM: To evaluate the value of OCTA in the diagnosis and treatment of retinal vein occlusion.<p>METHODS: A retrospective case-control study was conducted to select 38 patients(38 eyes)with retinal vein occlusion diagnosed in ophthalmology clinic of Dalian Third People's Hospital from January to October 2018. The affected eyes were group A and the contralateral healthy eyes were group B. All patients underwent OCTA mode scanning of macular retina in the range of 3 mm×3 mm. Four layers of macular blood flow density maps were obtained, including surface retina, deep retina, outer retina and choroidal capillary layer. The area of vascularized area(FAZ)in the central fovea of the surface retina was measured. Image J software was used to calculate four layers of macular blood. Flow density(MVD)and OCT were used to measure the horizontal and vertical fovea thickness(CFT). <p>RESULTS: There were differences in FAZ measurements in superficial retina between group A and group B(<i>P</i><0.01), and in horizontal and vertical CFT measurements(<i>P</i><0.01). There were differences in MVD between group A and group B(<i>P</i><0.01). There was no difference in MVD results in outer retina(<i>P</i>=0.542)and choroidal capillary layer(<i>P</i>=0.489). BCVA was positively correlated with surface retinal FAZ, horizontal CFT and vertical CFT, and negatively correlated with surface retinal MVD and deep retinal MVD, respectively(<i>r</i>=-0.486, -0.465,all <i>P</i><0.01).<p>CONCLUSION: The application of OCTA examination has important guiding significance in indicating macular retinal microcirculation disorder and visual prognosis in patients with retinal vein occlusion.
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Objective To investigate the risk factors of asthma attack.Methods In this open cohort study,74 492 initially healthy subjects aged 20 years or more in a longitudinal multi-center health management cohort in Shandong province from January 2007 to December 2015 were enrolled in this study. These subjects had no baseline bronchial asthma or other chronic airway disease and did not migrate to other provinces in the past 10 years. All subjects were followed up till 2016,and the asthma attack and its influencing factors were analyzed. The baseline data including sociodemographic data,smoking history,disease histories,and family disease histories were collected and analyzed by Poisson regression analysis.Results The regression analysis showed that age between 40 and 50 years(RR=3.3,95%CI=1.8-6.0),female(RR=1.6,95%CI=1.1-2.3),nasal polyps(RR=9.5,95%CI=2.3-39.6),pneumonia(RR=6.5,95%CI=3.7-11.2),bronchitis(RR=8.7,95%CI=5.1-14.7),and chronic obstructive pulmonary disease(RR=6.6,95%CI=3.1-13.8) significantly increased the risk of asthma attack.Conclusion Age,gender,and previous histories of certain respiratory tract diseases increase the risk of asthma attack.
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Adult , Female , Humans , Male , Middle Aged , Age Factors , Asthma , Diagnosis , Bronchitis , Cohort Studies , Nasal Polyps , Pneumonia , Pulmonary Disease, Chronic Obstructive , Risk Factors , Sex FactorsABSTRACT
Objective To observe the analgesic effect of transcutaneous electrical nerve stimulation (TENS) after cesarean section, and its effect on postpartum stress-related hormones. Method By following a double-blinded design, 58 primiparas were randomized into TENS group, PCA group, and sham TENS group. The time of pre-analgesia was considered as 1 h after the operation. Visual Analogue Scale (VAS) was measured at 7 time points (pre-analgesia, 5 min after analgesia, 15 min after analgesia, 30 min after analgesia, 60 min after analgesia, 24 h after analgesia, and 48 h after analgesia). The postpartum stress-related hormones adrenocorticotrophic hormone (ACTH) and prostaglandin (PG) were detected at 3 time points: before the operation (24 h prior to cesarean section), 24 h after the operation, and 48 h after the operation. The effects of the three analgesic methods on postpartum stress-related hormones were compared. Result The VAS score was significantly lower in TENS group than in sham TENS group 30 min after analgesia (P<0.05); there were no significant differences in VAS scores between TENS and PCA groups since 30 min after analgesia (P>0.05). At 24 h prior to the operation, and 24 h and 48 h after the operation, there were no significant between-group differences in ACTH (P>0.05). At 24 h prior to the operation, and 24 h and 48 h after the operation, there were no significant between-group differences in the level of PG (P>0.05); but in TENS and PCA groups, the PG level at 48 h after the operation was significantly lower than that at 24 h after the operation (P<0.05). Conclusion TENS hascertain analgesic effect, and it can reach equivalent analgesic effect compared with PCA when working over 30 min. Both TENS and PCA can down-regulate the level of PG. The three analgesia methods produce similar effects on blood ACTH.
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Objective To investigate the therapeutic effect of 3D curvature traction on neck-type cervical spondylosis.Methods Totally 100 neck-type cervical spondylosis patients were divided randomly and equally into an observation group and a control group.The observation group underwent the treatment by 3D curvature traction combined with intermediate frequency therapy,and the control group went through the treatment by cupping and intermediate frequency therapy.Evaluation was carried out on neck pain,tenderness and cervical mobility before and after the treatment.Results The recovery rate was 88％ in the observation group,which was significantly higher than that (40％) in the control group (P=0.007).The total effective rate was 100％ in the observation group,which was obviously higher than that (88％) in the control group (P=0.029).The score differences for pain and cervical mobility before and after the treatment were 4.96±0.36 and 1.67±0.73 respectively in the observation group,which were statistically different from the score differences for pain (3.38±0.80) and cervical mobility (0.88±0.76) in the control group (P＜0.05).Conclusion 3D curvature traction gains high clinical effect when used to treat neck-type cervical spondylosis.
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Objective To investigate the therapeutic effect of 3D curvature traction on neck-type cervical spondylosis.Methods Totally 100 neck-type cervical spondylosis patients were divided randomly and equally into an observation group and a control group.The observation group underwent the treatment by 3D curvature traction combined with intermediate frequency therapy,and the control group went through the treatment by cupping and intermediate frequency therapy.Evaluation was carried out on neck pain,tenderness and cervical mobility before and after the treatment.Results The recovery rate was 88％ in the observation group,which was significantly higher than that (40％) in the control group (P=0.007).The total effective rate was 100％ in the observation group,which was obviously higher than that (88％) in the control group (P=0.029).The score differences for pain and cervical mobility before and after the treatment were 4.96±0.36 and 1.67±0.73 respectively in the observation group,which were statistically different from the score differences for pain (3.38±0.80) and cervical mobility (0.88±0.76) in the control group (P＜0.05).Conclusion 3D curvature traction gains high clinical effect when used to treat neck-type cervical spondylosis.
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To study the interaction of drugs of different properties, namely puerarin, borneol and catalpol in the process of in- clusion, in order to explore the inclusion regularity of multi-component and multi-property traditional Chinese medicine compound in- clusions. With HP-β-CD as the inclusion material, the freeze-drying method was used to prepare the inclusion. The inclusion between puerarin, borneol and catalpol was tested by measuring the inclusion concentration, DSC and X-ray diffraction. According to the find- ings, when insoluble drugs puerarin and borneol were included simultaneously, and puerarin was overdosed, puerarin included was almost equal to puerarin included, and borneol was not included. When puerarin was under-dosed, and HP-β-CD was overdosed, borne- ol was included, and the simultaneous inclusion was lower than the separate inclusion of borneol. When water-soluble drug catalpol was jointly included with puerarin or borneol, the simultaneous inclusion was almost the same with their separate inclusion, without charac- teristic peak of catalpol in DSC and X-ray diffraction patterns. There is a competition in the simultaneous inclusion between water-solu- ble drugs puerarin and borneol and a stronger competition in puerarin. The water-soluble drug catalpol could be included with HP-β-CD with no impact on the inclusion of puerarin or borneol.
Subject(s)
2-Hydroxypropyl-beta-cyclodextrin , Camphanes , Chemistry , Therapeutic Uses , Brain Ischemia , Drug Therapy , Drug Compounding , Methods , Freeze Drying , Iridoid Glucosides , Chemistry , Therapeutic Uses , Isoflavones , Chemistry , Therapeutic Uses , Solubility , beta-Cyclodextrins , ChemistryABSTRACT
Objective To summarize the clinical features of non-classic infantile glycogen storage disease type Ⅱ for early diagnosis.Methods The clinical data including the clinical manifestations and investigation of the 3 nonclassic infantile glycogen storage disease type Ⅱ were retrospectively reviewed from Jun.to Jul.2011.All the 3 cases were diagnosed by measuring acid α-glucosidase (GAA) activity in blood sample.Results All the 3 patients presented development delay,limb muscle weakness without hepatomegaly.Two cases of them presented weakness of respiratory muscle.The serum creatine kinase,aspartate aminotransferase and alanine aminotransferase were high in all the 3 patients.Electromyography studies indicated that one of the patients with susceptible myopathy,one patient with neurogenic damage and one patient with mixed damage of the neuromascular.Echographic evidence of hypertrophic cardiomyopathy was detected in 2 patients.GAA activity of the 3 patients in blood sample had diagnostic value.Conclusions Nonclassic infantile glycogen storage disease type Ⅱ is easy to be missed due to its non-significant clinical manifestations.The results suggested that GAA activity in blood sample should be screened for the patients with motor development delay,decreased muscle weakness/exercise tolerance and increased of serum creatine kinase.
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Objective To explore the clinical and electrophysiologic features of anti-N-methyl-D-aspartate receptor(NMDAR) encephalitis in children.Methods The clinical records and findings of electroencephalogram(EEG) of the anti-NMDAR encephalitis patients diagnosed in the Capital Institute of Pediatrics were reviewed and analyzed.Five patients with anti-NMDAR encephalitis were identified,including 4 boys and 1 girl,aged from 2 years and 6 months to 6 years and 8 months.Results No tumor was found in those patients.Four patients developed the symptoms of seizure at first,and suffered from consciousness disturbance and movement disorder later,while the other patient was found to be affected by language disorder at first.All patients were treated with methylprednisolone and intravenous immunoglobulin therapy,and plasma exchange and (or) CD20 monoclonal antibodies were used when the patient did not respond well to the treatment.With this immunotherapy used,the patients showed great improvement in cognitive,language and movement abilities,but 1 relapsed 9 months after discharge.All patients had abnormal electroencephalogram with diffusive slow waves,and some with focal spikes or sharp waves.After the patients recovered,EEG showed fewer slow waves,and even normal backgrounds.Conclusions Anti-NMDAR encephalitis can be found in children,even young boys may be affected by it without tumors.For those suffering from this disease,seizure and language disorder may be one of the initial symptoms,and movement disorder and consciousness alteration will occur later.In treating this disease,immunotherapy proves effective.There is a risk of disease relapse if the immune treatment doesn't sustain long enough.
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Objective To investigate the mutation of galactose-1-phosphate uridyltransferase gene (GALT gene) of galactosemia children by molecular methods.Methods Two children with galactosemia were investigated.The peripheral blood mononuclear cells were separated and total RNA was extracted.Then,whole cDNAs of GALT were amplified by reverse-transcription polymerase chain reaction;The PCR products were subcloned into T-easy vector and the positive clones were selected and sequenced;meanwhile,the PCR products were also digested by restricted enzymes and identified by restriction fragment length polymorphism.Results Two novel mutations were found in 2 children.In one child,A was changed into G in nucleotide 1006 of GALT gene,which led to amino acid residue M336V mutation.In the other child,A in nucleotide 779 of GALT gene was changed into T and led to amino acid residue H260L mutation.The 2 mutations were both missense mutation and heterozygous mutation.Conclusions Gene diagnosis is an useful method to improve the accuracy of galactosemia diagnosis and will provide valuable references for prenatal diagnosis,hematopoietic stem cell transplantation and gene therapy.
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<p><b>OBJECTIVE</b>To assess the association between single nucleotide polymorphisms (SNPs) and haplotypes of estrogen receptor 1 (ESR1) gene with schizophrenia.</p><p><b>METHODS</b>Three SNPs (rs2234693, rs9340799 and rs3798759) were determined in 333 schizophrenic patients and 315 healthy subjects with polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method. Allelic and genotypic frequencies and particular haplotypes were compared between the two groups using Chi-square test.</p><p><b>RESULTS</b>The allelic and genotypic frequencies of rs2234693 and rs9340799 showed no significant difference between the two groups (P U+003E 0.05). However, a significant difference was detected in the frequencies of rs3798759 G allele and GG genotype between the two groups (P U+003C 0.01). Single factor analysis stratified by sex also found that frequencies of rs3798759 GG and TG genotypes and G allele were significantly higher in female schizophrenia patients compared with healthy females (P U+003C 0.05). Haplotypes C-A-G and C-G-G were more common in schizophrenia group (P U+003C 0.05).</p><p><b>CONCLUSION</b>polymorphisms of rs3798759 may be a risk factor for female patients with schizophrenia, and haplotypes C-A-G and C-G-G may be risk factors for schizophrenia.</p>
Subject(s)
Adult , Female , Humans , Male , Middle Aged , Alleles , Base Sequence , Case-Control Studies , Estrogen Receptor alpha , Genetics , Gene Frequency , Genetic Predisposition to Disease , Haplotypes , Polymorphism, Single Nucleotide , Schizophrenia , Genetics , Sex FactorsABSTRACT
Objective Schistasoma japonicum(S.japonicum)lysophospholipase gene(Sjl539)from cDNA of S japonicum adult worms was amplified and subcloned into eukaryotic expression vector pcDNA3.1(+)for expression of recombinant antigen and immunogenicity analysis.Methods Total RNA of S.japonicum was extracted to generato cDNA by RT-PCR.The Sj1539 gent was amplified.The DNA fragment was subcloned into eukaryofic expression vector pcDNA3.1(+)following insertion and amplification in pGEM-T.The recombinant plasmid was transfected into human cervical carcinoma cell strain(Hela cells)and expression products were identified by Western blotting.Results The size of PCR product was approximately 684 bp.It was confirmed that Sj1539 gene had been inserted successfully by the recombinant plasmid digested with two enzymes and PCR.It was verified that the expression product could react with S.japonicum-infected rabbit serum by Western blotting and the molecular weight was approximately 25×103.Conclusions The eukaryotie expression vector carrying Sj1539 gene has been established and the expression product has been obtained.
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<p><b>OBJECTIVE</b>To analyze the sleep electrophysiological changes and the sleep structure changes in children with bruxism by use of the polysomnography.</p><p><b>METHODS</b>Twelve children with severe bruxism and 11 children who had no systemic diseases or sleep disorders were selected for polysomnography.</p><p><b>RESULTS</b>The proportion of nonrapid eye movements sleep (NREMS)II and NREMS IV stages in bruxism group were (45.7 ± 7.1)% and (19.2 ± 4.9)%, while the control group were (52.9 ± 5.8)% and (13.3 ± 5.3)% respectively. The sleep efficiency and the latency of sleep were (84.0 ± 8.0)% and (39.33 ± 28.73) min in bruxism group, and (94.0 ± 3.7)% and (10.27 ± 7.57) min in the control group respectively. The difference was statistically significant.</p><p><b>CONCLUSIONS</b>The sleep structure is inordinate in bruxism children.</p>
Subject(s)
Child , Child, Preschool , Female , Humans , Male , Case-Control Studies , Polysomnography , Sleep , Physiology , Sleep Bruxism , Sleep Stages , Physiology , Sleep, REM , PhysiologyABSTRACT
<p><b>BACKGROUND</b>Attention deficit hyperactivity disorder (ADHD) is one of the most common mental disorders during childhood, characterized by the core symptoms of hyperactivity, impulsivity and inattention and puts great burden on children themselves, their families and the society. Osmotic release oral system methylphenidate (OROS-MPH) is a once-daily controlled-release formulation developed to overcome some of the limitations associated with immediate-release methylphenidate (IR-MPH). It has been marketed in China since 2005 but still lacks data from large-sample clinical trials on efficacy and safety profiles. The aim of this study was to evaluate the effectiveness and safety of OROS-MPH in children aged 6 to 16 years with ADHD under naturalistic clinical setting.</p><p><b>METHODS</b>This 6-week, multi-center, prospective, open-label study enrolled 1447 ADHD children to once-daily OROS-MPH (18 mg, 36 mg or 54 mg) treatment. The effectiveness measures were parent-rated Inattention and Overactivity With Aggression (IOWA) Conners I/O and O/D subscales, physician-rated CGI-I and parent-rated global efficacy assessment scale. Blood pressure, pulse rate measurement, adverse events (AEs) and concomitant medications and treatment review were conducted by the investigator and were served as safety measures.</p><p><b>RESULTS</b>A total of 1447 children with ADHD (mean age (9.52 ± 2.36) years) were enrolled in this trial. Totally 96.8% children received an OROS-MPH modal dose of 18 mg, 3.1% with 36 mg and 0.1% with 54 mg at the endpoint of study. The parent IOWA Conners I/O score at the end of week 2 showed statistically significant (P < 0.001) improvement with OROS-MPH (mean: 6.95 ± 2.71) versus the score at baseline (10.45 ± 2.72). The change in the parent IOWA Conners O/D subscale, CGI-I and parent-rated global efficacy assessment scale also supported the superior efficacy for OROS-MPH treatment. Fewer than half of 1447 patients (511(35.3%)) reported AEs, and the majority of the events reported were mild (68.2%). No serious adverse events were reported during the study.</p><p><b>CONCLUSION</b>This open-label, naturalistic study provides further evidence of effectiveness and safety of OROS-MPH in school-aged children under routine practice.</p>
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Adolescent , Child , Female , Humans , Male , Attention Deficit Disorder with Hyperactivity , Drug Therapy , Delayed-Action Preparations , Methylphenidate , Therapeutic Uses , Prospective Studies , Treatment OutcomeABSTRACT
<p><b>OBJECTIVE</b>Angelman syndrome (AS) is a neurodevelopmental genetic disorder that maps to 15q11-13. The primary phenotypes are attributable to loss of expression of imprinted UBE3A gene within this region which can arise by means of a number of mechanisms. The purpose of this study was to make a genetic diagnosis and to analyze the clinical features in suspected patients with AS.</p><p><b>METHOD</b>A total of 17 cases were diagnosed clinically as AS including 7 males and 10 females. The age at the time of diagnosis ranged from 8 months to 5 years. Genetic diagnosis was made by methylation-specific PCR (MS-PCR), linkage analysis by short tandem repeat (STR) and chromosome karyotype analysis. According to the international diagnostic criteria of AS, the related characteristic clinical features of the AS patients with deletion of 15q11-13 were analyzed and summarized.</p><p><b>RESULT</b>Deletion of 15q11-13 was confirmed by genetic diagnosis in 17 AS patients. No abnormal findings were observed when they were born. Developmental delay in movement, speech impairments and happy disposition were observed in 100% (17/17) AS patients. And the severe speech deficit was much easier and more obvious to observe than movement. About 80% (14/17) - 90% (15/17) AS patients presented frequent clinical characteristics, such as seizures and abnormal EEG. However, microcephaly could only be observed in 35% (6/17) AS patients. Regarding the associated findings of AS, 41% (7/17) - 77% (13/17) AS patients could be observed with flat occiput/occipital groove, prognathia, wide mouth, wide-spaced teeth, frequent drooling, excessive mouth behaviors, hypopigmented skin, light hair compared to parents, flexed arm position during ambulation and sleep disorder etc. These features occurred at a higher frequency in those patients of > 2 years old group than that of < 2 years old group.</p><p><b>CONCLUSION</b>The testing strategies of MS-PCR and STR linkage analysis combined with chromosome karyotype analysis were appropriate to the molecular genetic diagnosis of AS. In our analysis of clinical features, there was a lower rate of small head circumference (HC) in 35% patients compared with 80% patients in Caucasian with microcephaly, which might be attributable to the phenotypic heterogeneity in different races. And the birth history, movement and speech development and main clinical features of the Chinese AS patients were consistent with those of other studies. Clinical analysis in patients of different age groups showed that findings associated with AS would be more easily observed with the age increasing. Genetic diagnosis should be performed in clinically suspected AS patients.</p>
Subject(s)
Child, Preschool , Female , Humans , Infant , Male , Angelman Syndrome , Diagnosis , Genetics , Chromosome Deletion , Chromosomes, Human, Pair 15 , Genetics , PhenotypeABSTRACT
<p><b>OBJECTIVE</b>Spinal muscular atrophy (SMA) is an autosomal recessive disorder that results in symmetrical muscle weakness and wasting due to degeneration of the anterior horns of the spinal cord. The clinical picture of SMA is variable and childhood SMA has been classified into 3 types on the basis of the age of onset and clinical course. The survival motor neuron (SMN) gene was mapped to chromosome 5q13. The SMN1 gene has been recognized to be responsible for SMA because of homozygous deletions or intragenic mutations in SMN1 results in childhood onset of SMA. The main objective of this study was to determine the deletion frequency of SMN1 gene and to apply gene analysis in children patients with SMA.</p><p><b>METHODS</b>The SMA patients were diagnosed and clinically typed according to the international diagnostic criteria, following up cases, and gene analysis. The PCR enzyme assay was used to detect the homozygous deletion of SMN1 gene in SMA patients. A dosage assay that combined multiplexed allele-specific PCR and DHPLC was used to determine the copy numbers of the SMN1 and SMN2 and detect SMN1 heterozygous deletion.</p><p><b>RESULTS</b>(1) A total of 267 patients with SMA were diagnosed from 338 suspicious cases and 143, 82, and 42 cases were typed as types I, II, and III, with the percentages of 53.6% (143/267), 30.7% (82/267) and 15.7% (42/267), respectively. (2) Results of the present study showed that 68.5% (183/267) of SMA patients had homozygous deletions of exons 7 and 8 of SMN1 gene and 12.7% (34/267) had homozygous deletions of only exon 7 of SMN1 gene. The SMN1 heterozygous deletion was confirmed in 12.4% (33/267) of SMA patients. Non-deletion SMA patients accounted for 6.4%(17/267). The homozygous deletions of only exon 8 of SMN1 gene could not be detected. (3) The rates of homozygous or heterozygous deletion in types I and II were very similar. The rate of homozygous deletion was lower in type III than that in type I or II and rate of heterozygous deletion of type III was higher than that in types I or II.</p><p><b>CONCLUSION</b>(1) The frequency and pattern of deletions in the Chinese children patients with SMA are significantly different from that observed in Caucasians populations. Further gene characterization and subtle mutations within the SMN1 gene need to be studied in order to define the molecular basis of SMA in the Chinese population. (2) The gene diagnosis is a special and non invasive method as compared with other methods. A total of 80% patients can be diagnosed through the analysis of the homozygous deletion of SMN1 gene. (3) The clinical diagnosis and gene detection need to be studied in future for the SMA patients with type III.</p>
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Adolescent , Child , Child, Preschool , Female , Humans , Infant , Male , Asian People , Genetics , White People , Genetics , Exons , Gene Deletion , Spinal Muscular Atrophies of Childhood , Diagnosis , Genetics , Survival of Motor Neuron 1 Protein , GeneticsABSTRACT
<p><b>OBJECTIVE</b>To probe into the morphological and histological characteristics of the telencephalon of Onychodactylus fischeri, and to enrich the comparable neurobiology.</p><p><b>METHOD</b>HE-staining method was used to describe the characters of the telencephalon of Onychodactylus fischeri.</p><p><b>RESULTS</b>The olfactory bulb of Onychodactylus fischeri locates in the rastral and lateral to the cerebral hemisphere, and six distinct layers can be identified from the lateral to the medial, quite similar to Batrachuperus tibetanus and Hynobius leechii. In the cerebrum, the primordial hippocampus developed better than the primordial piriform. The former belongs to archipallium and the latter is paleopallium. Ventral to the primordial hippocampus there is a septal area which cannot be divided into medial and lateral parts. In the ventrical wall, there is neither medial limiting sulcus nor lateral limiting sulcus to separate the primordial hippocampus and the septal area, or the primordial piriform and the corpus striatum. The corpus striatum of Onychodactylus fischeri is paleostriatum. There is choroids plexus anterior in the lateral ventricle. The cell group that located at two sides of the third ventricle is the amygdale. Besides, the shape and size of neurons within the telencephalon are poorly differentiated.</p><p><b>CONCLUSION</b>Onychodactylus fischeri is a relatively primitive type in the amphibian. The present data will help us to further understand the nerve system of tailed amphibian.</p>
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Animals , Telencephalon , Cell Biology , UrodelaABSTRACT
Inheirted metabolic disodrers(IMD)involves in multiple substance dysbolism,which usually results in irreversible neurological lesions because of various categories and complicated clinical manifestations.In resent years,IMD became one of the hot spots in medical domain around the world,original diagnostic technique and management progressed unceasingly.This paper provides an overview of the traditio-nal detection and treatment about IMD,and reviews the new techniques such as gene analysis,gene chip,organ transplantation and enzyme replacement therapy at the same time.
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Objective To understand the epidemiological characteristics of central nervous system(CNS)infectious diseases in children hospitalized in capital institute of pediatrics.Methods All the 972 patients hospitalized in capital institute of pediatrics with the clinical diagnosis of CNS infectious diseases were analyzed from Jan.1997 to Dec.2006 retrospectively.The etiological detection of serum and/or cerebrospinal fluid(CSF)samples in acute stage collected from those patients included smear,cultivation and rapid etiological diagnosis of bacterium and fungus;determination of viral antibody,mycoplasma pneumonia antibody and tuberculous antibody.Results 1.A total of 972 patients were treated for CNS infectious diseases,accounting for 1.76% of inpatients of Internal Medicine at the same time.2.The main sources of CNS infectious diseases :747 cases of viral encephalitis,177 purulent meningitis,21 mycoplasmal encephalitis and 12 tuberculous meningitis.3.The ratio of male and female was 1.72:1.0 and the mean onset age was(4.75?4.03)years.4.Special infectious agents in serum and/or CSF samples were positive in 283(29.12%)cases.The total bacterial positive cases were 48/177 cases(27.12%).Streptococcus pneumonia(4.52%)was the most,followed by Escherichia coli(3.39%),Neisseria meningitides(3.39%)and Haemophilus influenzae B(Hib,3.39%).Viral antibodies were positive in 210/747 cases(28.11%).The major agents were herpes virus(HV)[128/747 cases(17.14%)]and enterovirus(EV)[91/747 cases(12.18%)].Conclusions CNS infectious diseases were important ones hospitalized in internal medicine of capital institute of pediatrics.Virus and bacterium were the main causes of CNS infectious diseases.Streptococcus pneumonia,Escherichia coli,Neisseria meningitides and Hib were the main agents of purulent meningitis.HV and EV were the main sources of viral encephalitis.