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Epidural analgesia is a suitable and effective treatment for labor pain. However, the preferable modality setting for delivery remains debatable. This study adopted a programmed intermittent epidural bolus (PIEB) setting in conjunction with a patient-controlled epidural analgesia (PCEA) setting to improve the quality of labor analgesia and reduce the number of medical staff. We conducted a prospective observational analysis of primigravida parturients scheduled for spontaneous labor, which required epidural analgesia for painless labor. A total of 483 healthy primigravida parturients with singleton pregnancies were included in this cohort; 135 nulliparous patients were assigned to the continuous infusion setting (CEI) group and 348 to the PIEB + PCEA group. Compared to the CEI setting, the PIEB + PCEA setting significantly reduced the manual rescue by the clinician, extended the time required for the first manual rescue dose, and acclaimed good maternal satisfaction. The use of the CEI mode increased for poor performance requiring more than two rescues with an odds ratio of 2.635 by a binary logistic regression analysis. Using the PIEB + PCEA setting as the maintenance infusion had a longer duration for the first requested manual rescue, fewer manual rescue boluses, excellent satisfaction, and no significant increase in adverse events compared to the CEI setting.
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Acute coronary syndrome (ACS) and acute aortic syndrome (AAS) are both life-threatening emergencies. We report a case of ACS with thoracic aneurysm. Thoracic endovascular aortic repair (TEVAR) was arranged. However, perioperative complete atrioventricular block occurred and soon progressed to ST-elevation myocardial infarction. In the case of chest discomfort with elevated troponin I and thoracic aneurysm, it is of tremendous importance to cope with both ACS and the possible AAS. In the era of hybrid operation room, coronary catheterization and intervention first followed by TEVAR may provide timely and more comprehensive treatment.
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Síndrome Coronariana Aguda/cirurgia , Aorta Torácica/cirurgia , Aneurisma da Aorta Torácica/cirurgia , Bloqueio Atrioventricular/etiologia , Procedimentos Endovasculares/efeitos adversos , Complicações Intraoperatórias/etiologia , Eletrocardiografia , Humanos , Masculino , Pessoa de Meia-IdadeRESUMO
BACKGROUND/PURPOSE: Central nervous system (CNS) patterning genes are recognized as candidate genes for autism spectrum disorders (ASDs) based on neuroimaging and neuropathological evidence. Several genes that regulate CNS development are shown to be associated with ASD. Our previous family-based association study also revealed that a specific haplotype of WNT2 (wingless-type MMTV integration site family member 2) gene was overtransmitted to probands with ASD. Whether the CNS patterning genes moderate the clinical phenotype of ASD is unclear. This study investigated the genetic associations of WNT2, engrailed 2 (EN2), and forkhead box P2 (FOXP2) with the clinical symptom severity. METHODS: The sample included 391 patients (males, 88.3%; mean age±standard deviation, 9.5±4.4 years) diagnosed with ASDs. Tag single nucleotide polymorphisms (SNPs) of EN2, WNT2, and FOXP2 were genotyped. The single-locus and multilocus markers were tested for association. RESULTS: We found that multilocus markers of WNT2 were associated with stereotyped behaviors whereas the markers of FOXP2 tended to be associated with social deficits. Moreover, an SNP of WNT2 showed a trend to be associated with less inattentive symptoms. CONCLUSION: Our findings that WNT2 and FOXP2 may moderate the clinical phenotypes of ASD provide evidence to support the possible universal effect of WNT2 and FOXP2 on neurodevelopmental symptom dimensions. Such findings warrant further validation in other independent samples. TRIAL REGISTRATION: Clinical trial registration identifier: NCT00494754.
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Transtorno do Espectro Autista/genética , Transtorno do Espectro Autista/fisiopatologia , Fatores de Transcrição Forkhead/genética , Proteína Wnt2/genética , Adolescente , Criança , Pré-Escolar , Feminino , Haplótipos , Humanos , Masculino , Fenótipo , Polimorfismo de Nucleotídeo Único , Índice de Gravidade de Doença , TaiwanRESUMO
BACKGROUND: Autism spectrum disorder (ASD) is a neurodevelopmental disorder with strong genetic components. Several recent genome-wide association (GWA) studies in Caucasian samples have reported a number of gene regions and loci correlated with the risk of ASD--albeit with very little consensus across studies. METHODS: A two-stage GWA study was employed to identify common genetic variants for ASD in the Taiwanese Han population. The discovery stage included 315 patients with ASD and 1,115 healthy controls, using the Affymetrix SNP array 6.0 platform for genotyping. Several gene regions were then selected for fine-mapping and top markers were examined in extended samples. Single marker, haplotype, gene-based, and pathway analyses were conducted for associations. RESULTS: Seven SNPs had p-values ranging from 3.4~9.9*10-6, but none reached the genome-wide significant level. Five of them were mapped to three known genes (OR2M4, STYK1, and MNT) with significant empirical gene-based p-values in OR2M4 (p = 3.4*10(-5)) and MNT (p = 0.0008). Results of the fine-mapping study showed single-marker associations in the GLIS1 (rs12082358 and rs12080993) and NAALADL2 (rs3914502 and rs2222447) genes, and gene-based associations for the OR2M3-OR2T5 (olfactory receptor genes, p = 0.02), and GLIPR1/KRR1 gene regions (p = 0.015). Pathway analyses revealed important pathways for ASD, such as olfactory and G protein-coupled receptors signaling pathways. CONCLUSIONS: We reported Taiwanese Han specific susceptibility genes and variants for ASD. However, further replication in other Asian populations is warranted to validate our findings. Investigation in the biological functions of our reported genetic variants might also allow for better understanding on the underlying pathogenesis of autism.
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Povo Asiático/genética , Transtorno do Espectro Autista/genética , Estudo de Associação Genômica Ampla , Adolescente , Transtorno do Espectro Autista/etnologia , Transtorno do Espectro Autista/patologia , Fatores de Transcrição de Zíper de Leucina e Hélice-Alça-Hélix Básicos/genética , Estudos de Casos e Controles , Criança , Mapeamento Cromossômico , Proteínas de Ligação a DNA/genética , Feminino , Genótipo , Glutamato Carboxipeptidase II/genética , Haplótipos , Humanos , Masculino , Polimorfismo de Nucleotídeo Único , Receptores Proteína Tirosina Quinases/genética , Proteínas Repressoras/genética , Taiwan/etnologia , Fatores de Transcrição/genética , Adulto JovemRESUMO
BACKGROUND: Cancellation of surgery close to scheduled time causes a waste of healthcare resources. The current study analyzes surgery cancellations occurring after the patient has been prepared for the operating room, in order to see whether improvements in the surgery planning process may reduce the number of cancellations. METHODS: In a retrospective chart review of operating room surgery cancellations during the period from 2006 to 2011, cancellations were divided into the following categories: inadequate NPO; medical; surgical; system; airway; incomplete evaluation. The relative use of these reasons in relation to patient age and surgical department was then evaluated. RESULTS: Forty-one percent of cancellations were for other than medical reasons. Among these, 17.7% were due to incomplete evaluation, and 8.2% were due to family issues. Sixty seven percent of cancelled cases eventually received surgery. The relative use of individual reasons for cancellation varied with patient age and surgical department. The difference between cancellations before and after anesthesia was dependent on the causes of cancellation, but not age, sex, ASA status, or follow-up procedures required. CONCLUSION: Almost half of the cancellations were not due to medical reasons, and these cancellations could be reduced by better administrative and surgical planning and better communication with the patient and/or his family.
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Agendamento de Consultas , Tomada de Decisões Gerenciais , Neoplasias/cirurgia , Salas Cirúrgicas/organização & administração , Cuidados Pré-Operatórios , Procedimentos Cirúrgicos Operatórios , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Adulto JovemRESUMO
BACKGROUND: GABRB3 is a position candidate gene at chromosome 15q12 that has been implicated in the neurobiology of autism spectrum disorders (ASD). The aim of this study was to examine the genetic association of GABRB3 with ASD. METHODS: The sample consisted of 356 patients with clinical diagnosis of ASD according to the DSM-IV diagnostic criteria and confirmed by the Autism Diagnostic Interview-Revised and 386 unrelated controls. We searched for mutations at all the exonic regions and 1.6 Kb of the 5' region of GABRB3 in the genomic DNA of all the participants using the Sanger sequencing. We implemented a case-control association analysis of variants detected in this sample, and conducted a reporter gene assay to assess the functional impact of variants at the 5' regulatory region. RESULTS: We detected six known common SNPs; however, they were not associated with ASD. Besides, a total of 22 rare variants (12 at 5' regulatory, 4 at intronic, and 6 at exonic regions) were detected in 18 patients and 6 controls. The frequency of rare variants was significantly higher in the patient group than in the control group (18/356 versus 6/386, odds ratio = 3.37, P = 0.007). All the 12 rare variants at the 5' regulatory region were only detected in 7 patients, but not in any of the controls (7/356 versus 0/386, Fisher's exact test, P = 0.006). Two patients carried multiple rare variants. Family studies showed that most of these rare variants were transmitted from their parents. Reporter gene assays revealed that four rare variants at the 5' regulatory region and 1 at exon 1a untranslated region had elevated reporter gene activities compared to two wild type alleles. CONCLUSIONS: Our data suggest rare variants of GABRB3 might be associated with ASD, and increased GABRB3 expression may contribute to the pathogenesis of ASD in some patients. TRIAL REGISTRATION: CLINICAL TRIAL REGISTRATION IDENTIFIER: NCT00494754.
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BACKGROUND: There are several sites for measuring body temperature. Correct reading of core temperature is imperative for patients undergoing major operations under anesthesia. In certain situations, the sites of measurement may be close to the surgical area, and thus the measurement is easily prejudiced by the influence environment. We hypothesized that the body temperature, if monitored in the esophagus, would be lower than obtained from the tympanic membrane during thoracotomy for lung pathology under general anesthesia. MATERIALS AND METHODS: The study involved 32 patients, of American Society of Anesthesiologists (ASA) physical status I or II, who were to undergo elective thoracotomy for lung disorders. General anesthesia was induced with fentanyl, propofol, and rocuronium and maintained with sevoflurane in oxygen. The tympanic membrane probe was placed prior to when general anesthesia was administered, and the esophageal probe was inserted after administration of general anesthesia. Both the individualized temperatures were recorded at 5-minute intervals, and were compared at each change of surgical situation. RESULTS: The tympanic membrane temperature was higher than esophageal temperature after initiation of one-lung ventilation (OLV) with statistical significance. The magnitude of decrease in temperature between two individualized temperatures, as compared from start of OLV, was greater in tympanic membrane temperature, especially at 30 minutes after OLV (p < 0.02, difference = -0.09 ± 0.22) and at the time point of the lowest temperature (p = 0.002, difference = -0.14 ± 0.24). There was no clinical difference of situation found (difference > 0.5°C) in the measuring sequences. CONCLUSION: The accuracy of esophageal temperature seemed not to be affected during thoracotomy for lung lesion, in comparison with that of tympanic temperature. From clinical viewpoints, the monitoring of esophageal temperature could be more reliable in such surgical situation.
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Temperatura Corporal , Esôfago/fisiologia , Pneumopatias/cirurgia , Toracotomia , Anestesia Geral , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Monitorização Fisiológica/métodosRESUMO
Autism spectrum disorders (ASD) are childhood-onset neurodevelopmental disorders characterized by verbal communication impairments, social reciprocity deficits, and the presence of restricted interests and stereotyped behaviors. Genetic factors contribute to the incidence of ASD evidently. However, the genetic spectrum of ASD is highly heterogeneous. Chromosomal abnormalities contribute significantly to the genetic deficits of syndromic and non-syndromic ASD. In this study, we conducted karyotyping analysis in a sample of 500 patients (447 males, 53 females) with ASD from Taiwan, the largest cohort in Asia, to the best of our knowledge. We found three patients having sex chromosome aneuploidy, including two cases of 47, XXY and one case of 47, XYY. In addition, we detected a novel reciprocal chromosomal translocation between long arms of chromosomes 4 and 14, designated t(4;14)(q31.3;q24.1), in a patient with Asperger's disorder. This translocation was inherited from his unaffected father, suggesting it might not be pathogenic or it needs further hits to become pathogenic. In line with other studies, our study revealed that subjects with sex chromosomal aneuploidy are liable to neurodevelopmental disorders, including ASD, and conventional karyotyping analysis is still a useful tool in detecting chromosomal translocation in patients with ASD, given that array-based comparative genomic hybridization technology can provide better resolution in detecting copy number variations of genomic DNA.
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Transtornos Globais do Desenvolvimento Infantil/genética , Aberrações Cromossômicas , Adolescente , Criança , Pré-Escolar , Feminino , Humanos , Cariotipagem , Masculino , Linhagem , TaiwanRESUMO
Runs of homozygosity (ROH) may play a role in complex diseases. In the current study, we aimed to test if ROHs are linked to the risk of autism and related language impairment. We analyzed 546,080 SNPs in 315 Han Chinese affected with autism and 1,115 controls. ROH was defined as an extended homozygous haplotype spanning at least 500 kb. Relative extended haplotype homozygosity (REHH) for the trait-associated ROH region was calculated to search for the signature of selection sweeps. Totally, we identified 676 ROH regions. An ROH region on 11q22.3 was significantly associated with speech delay (corrected pâ=â1.73×10(-8)). This region contains the NPAT and ATM genes associated with ataxia telangiectasia characterized by language impairment; the CUL5 (culin 5) gene in the same region may modulate the neuronal migration process related to language functions. These three genes are highly expressed in the cerebellum. No evidence for recent positive selection was detected on the core haplotypes in this region. The same ROH region was also nominally significantly associated with speech delay in another independent sample (pâ=â0.037; combinatorial analysis Stouffer's z trendâ=â0.0005). Taken together, our findings suggest that extended recessive loci on 11q22.3 may play a role in language impairment in autism. More research is warranted to investigate if these genes influence speech pathology by perturbing cerebellar functions.
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Transtorno Autístico/genética , Genes Recessivos , Transtornos do Desenvolvimento da Linguagem/genética , Adulto , Estudos de Casos e Controles , Pré-Escolar , Cromossomos Humanos Par 11/genética , Feminino , Estudos de Associação Genética , Homozigoto , Humanos , Lactente , Desequilíbrio de Ligação , Masculino , Modelos Genéticos , Polimorfismo de Nucleotídeo Único , Fatores de Risco , Análise de Sequência de DNA , Taiwan , Adulto JovemRESUMO
This study aimed to establish the norms and to examine the psychometric properties of the Chinese version of the Strengths and Difficulties Questionnaire (SDQ). Sample included a representative sample of 3534 students (grades 1 to 8) from one city and one suburb each in Northern and Southern Taiwan by using a multistage sampling method and 211 psychiatric outpatients diagnosed with attention-deficit hyperactivity disorder (ADHD), aged 6 to 15, consecutively recruited from a medical center in Taipei. All the parents and teachers and participants with grade 4 or higher completed the SDQ. Parents and teachers also completed the Child Behavior Checklist and the measures about inattention, hyperactivity, and oppositional symptoms. Similar to Western studies, principal component analyses confirmed the five psychological dimensions of the SDQ for the parent, teacher, and student forms. The three forms of the Chinese SDQ showed satisfactory test-retest reliability, internal consistency, concurrent validity, and discriminant validity. All the subscales of the three forms of the Chinese SDQ clearly distinguished clinical participants with ADHD from school-based participants. Like Western studies, our findings indicate that the Chinese SDQ demonstrates a reliable and valid instrument for measuring internalizing, externalizing, and prosocial behaviors in Taiwanese child and adolescent population.
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Transtornos Mentais/diagnóstico , Adolescente , Povo Asiático , Criança , Feminino , Humanos , Masculino , Escalas de Graduação Psiquiátrica , Psicometria , Inquéritos e Questionários , Taiwan , TraduçõesRESUMO
BACKGROUND: IV fentanyl is used as a labor analgesic; however, few studies have reported the effects of IV fentanyl for early labor analgesia. We evaluated the analgesic response to IV fentanyl according to the combined effect of the single-nucleotide polymorphisms rs1799971 (c.118A/G, p. 40Asn/Asp) of the µ-opioid receptor gene (OPRM1) and rs4680 (c.472G/A, p.158Val/Met) of the catechol-O-methyltransferase (COMT) gene in women requesting labor analgesia. METHODS: Labor analgesia was initiated with IV fentanyl 1.5 µg/kg. The primary outcome was analgesic success, defined as Numerical Verbal Pain Scale score≤10/100 15 minutes after the dose of fentanyl. Analgesic and side effect outcomes were compared according to OPRM1 and COMT genotypes. RESULTS: One hundred six women were enrolled and received IV fentanyl. IV analgesic success was 6% in women with the combination Asn/Asn-Met/Met (n=17) versus 20% in all other women combined (not Asn/Asn-Met/Met; P=0.30; difference=14%; 95% confidence interval [CI], -10% to 26%). IV analgesic success was 20% in women 118A/A (Asn/Asn) versus 21% for A/G and G/G of OPRM1 (P=0.82; difference=2%; 95% CI, -17% to 19%), and 10% in women 472A (Met/Met) versus 22% for A/G (Met/Val) and G/G (Val/Val) of COMT (P=0.24; difference=12%; 95% CI, -6% to 26%). Met/Met158 (n=31) versus Met/Val or Val/Val of COMT was associated with a smaller decrease in Numerical Verbal Pain Scale (24±18 vs 37±23; P=0.005; mean difference=-13; 99% CI, -25 to -1). CONCLUSION: This study was underpowered to draw firm conclusions on the influence of OPRM1 and COMT genotypes on labor analgesia with IV fentanyl. Further larger studies are needed to evaluate whether genotyping COMT alone or in combination with OPRM1 may have potentially useful clinical implications, such as not offering IV fentanyl in early labor to women who will most likely not benefit from it.
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Analgesia Obstétrica , Analgésicos Opioides , Catecol O-Metiltransferase/genética , Fentanila , Receptores Opioides mu/genética , Adulto , DNA/genética , Feminino , Genótipo , Humanos , Medição da Dor , Fenótipo , Polimorfismo de Nucleotídeo Único/genética , Gravidez , Resultado do Tratamento , Adulto JovemRESUMO
The Autism Spectrum Quotient (AQ) has been widely used for measuring autistic characteristics in parents of children with autism spectrum disorders (ASD). Nonetheless, its psychometric validity is yet to be justified. This study tested the factor structure of the AQ by means of principal component analysis and confirmatory factor analysis using, for the first time, data from 4192 Taiwanese parents (1208 with ASD children and 2984 with typically developing children). Results yielded a 35-item, 5-dimensional factor solution that had favorable psychometric characteristics (RMSEA = .054; NNFI = .962; CFI = .969) than any of the previously-published AQ factor solutions. Subscales of this new AQ-Chinese model were statistically and semantically coherent, namely: Socialness, Mindreading, Patterns, Attention to Details and Attention Switching. The psychometric properties of the AQ-Chinese did not change between clinic-based and community-based data suggesting good fitting for a continuum of autistic expression. Furthermore, the considerable overlap between the AQ-Chinese and the AQ factor structures derived previously using student samples indicated consistency in the manifestation of the autistic profile across different cultures and age groups. Group differences in the AQ-Chinese scores were in line with previous studies, i.e. males generally scored radically higher than females except in Attention to Details. Interestingly, mothers of ASD children reported lower total AQ scores than community mothers yet no significant group difference for the fathers. Important research and clinical implications pertinent to parents with children with ASD and the utility of the AQ were drawn.
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Povo Asiático/psicologia , Transtorno Autístico/psicologia , Transtornos Globais do Desenvolvimento Infantil/psicologia , Pais/psicologia , Determinação da Personalidade/normas , Psicometria/normas , Adulto , Povo Asiático/etnologia , Transtorno Autístico/etnologia , Criança , Transtornos Globais do Desenvolvimento Infantil/etnologia , Características Culturais , Pai/psicologia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Mães/psicologia , Psicometria/métodos , Reprodutibilidade dos Testes , TaiwanRESUMO
Previous evidence suggests that language function is modulated by genetic variants on chromosome 7q31-36. However, it is unclear whether this region harbors loci that contribute to speech delay in autism. We previously reported that the WNT2 gene located on 7q31 was associated with the risk of autism. Additionally, two other genes on 7q31-36, FOXP2 and the EN2 genes are also found to play a role in language impairment. Therefore, we hypothesize that the WNT2 gene, FOXP2 gene, and EN2 gene, may act in concert to influence language development in the same population. A total of 373 individuals diagnosed with autistic disorder were recruited in the current study. We selected 6 tag single nucleotide polymorphisms (SNPs) within the WNT2 gene, 3 tag SNPs in the FOXP2, and 3 tag SNPs in the EN2 genes, to study the effect of these genes on language development. Age of first phrase was treated as a quantitative trait. We used general linear model to assess the association between speech delay and these variants. The results show that rs2896218 in the WNT2 gene was moderately significantly associated with age of first phrase (permutation p = 0.0045). A three-locus haplotype in the WNT2 gene was significantly associated with age of first phrase (permutation p = 2 × 10(-4)). Furthermore, we detected an interaction effect on age of first phrase between a SNP rs2228946 in the WNT2 gene and another SNP rs6460013 in the EN2 gene (p = 0.0012). Therefore, the WNT2 gene may play a suggestive role in language development in autistic disorder. Additionally, the WNT2 gene and EN2 gene may act in concert to influence the language development in autism.
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Transtorno Autístico/genética , Proteínas de Homeodomínio/genética , Transtornos do Desenvolvimento da Linguagem/genética , Desenvolvimento da Linguagem , Proteínas do Tecido Nervoso/genética , Polimorfismo de Nucleotídeo Único/genética , Proteína Wnt2/genética , Adolescente , Idade de Início , Criança , Cromossomos Humanos Par 7/genética , Fatores de Transcrição Forkhead/genética , Haplótipos , Humanos , Desequilíbrio de Ligação , Idade PaternaRESUMO
Sleep deprivation has been shown to be associated with an increase in inflammation that is also involved in the development of neointimal hyperplasia (or restenosis). The purpose of this study was to investigate whether total sleep deprivation (TSD) would worsen neointimal formation by balloon injury. Sixteen rats were randomly allocated into the following four groups: group 1, balloon angioplasty alone; group 2, TSD prior to angioplasty; group 3, angioplasty before TSD; and group 4, TSD before and after angioplasty. Total sleep deprivation was induced by the disc-over-water method, and balloon angioplasty was performed in the carotid artery. Histopathological analysis and assay of cytokines were applied to evaluate the effects of TSD in this study. Total sleep deprivation significantly increased the ratio of postinjury neointima-to-media area in groups 2, 3 and 4 (all P < 0.01) compared with group 1. Additionally, in all groups with TSD administration the serum level of interleukin 10 was also markedly decreased on day 3 after angioplasty injury (P < 0.05 or P < 0.01). Our findings suggest that perioperative TSD can significantly augment neointimal hyperplasia of the carotid artery in rats, which may be partly caused by a TSD-induced effect in suppressing the serum level of the anti-inflammatory cytokine, interleukin 10.
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Angioplastia com Balão/efeitos adversos , Artérias Carótidas/patologia , Neointima/patologia , Privação do Sono/patologia , Animais , Hiperplasia/patologia , Inflamação/patologia , Interferon gama/sangue , Interleucina-10/sangue , Interleucina-6/sangue , Masculino , Ratos , Ratos Sprague-DawleyRESUMO
Autism is a complex neurodevelopmental disorder with high heritability. Despite different approaches worldwide to identify susceptibility loci or genes for autism spectrum disorders (ASDs), no consistent result has been reported. CNS patterning genes have been recognized as candidate genes for autism based on neuroimage and neuropathology evidence. This study investigated four candidate genes (WNT2, EN2, SHANK3, and FOXP2) by a tag SNP approach in a family-based association study. The trio samples include 1164 subjects from 393 families, including 393 probands (aged 9.1±4.0years; male, 88.6%) diagnosed with autistic disorder (n=373) or Asperger's disorder (n=20) according to the DSM-IV diagnostic criteria and confirmed by the Chinese ADI-R interview. Three tag SNPs of EN2 (7q36), 6 SNPs of WNT2 (7q31-33), 5 SNPs of SHANK3 (22q13.3), 3 SNPs of FOXP2 (7q31) were genotyped. TDT analysis was done to test the association of each tag SNP and haplotype. There was no association with autism for 17 tag SNPs of WNT2, EN2, SHANK3, and FOXP2 based on SNP analyses. Haplotype analyses did not reveal significant association except for the 6 tag SNPs of WNT2 gene showing a significant association on one haplotype composed of rs2896218 and rs6950765 (G-G) (p=0.0095). Other haplotypes composed of rs2896218 and rs6950765 (G-G) were also significantly associated with autism. The present study indicates that SHANK3 may not be a critical gene for the etiology of ASDs in Han Chinese population. Inconsistent findings in EN2 and FOXP2 in the Han Chinese population need further clarification. A haplotype of WNT2 (rs2896218-rs6950765: G-G) is significantly associated with ASDs in our trios samples, this finding warrants further validation by different sample and confirmation by functional study.
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Povo Asiático/genética , Síndrome de Asperger/genética , Transtorno Autístico/genética , Proteínas de Transporte/genética , Fatores de Transcrição Forkhead/genética , Proteínas de Homeodomínio/genética , Proteínas do Tecido Nervoso/genética , Proteína Wnt2/genética , Povo Asiático/psicologia , Síndrome de Asperger/psicologia , Transtorno Autístico/psicologia , Criança , Feminino , Estudos de Associação Genética/métodos , Predisposição Genética para Doença/genética , Predisposição Genética para Doença/psicologia , Genótipo , Haplótipos , Humanos , Masculino , Polimorfismo de Nucleotídeo Único , TaiwanRESUMO
BACKGROUND: Previous work demonstrated that maternal haplotypes of the ß2-adrenoceptor gene (ADRB2) influence ephedrine requirements during cesarean delivery. The use of ephedrine versus a pure α-adrenergic agonist such as phenylephrine has been associated with lower umbilical artery (UA) pH, thought to be secondary to increased fetal metabolism. There are no data evaluating the effect of fetal/neonatal genotypes on the metabolic response to maternally administered vasopressors. We hypothesized that neonatal ADRB2 genotype would affect the extent of neonatal acidemia. We also examined the effect of maternal ADRB2 and the endothelial nitric oxide synthase gene (NOS3) on ephedrine and phenylephrine requirements for treatment of maternal hypotension. METHODS: The study was performed on 104 Chinese women scheduled for cesarean delivery under spinal anesthesia who were participating in a double-blind randomized clinical trial evaluating the maternal and neonatal effects of ephedrine versus phenylephrine infusions. Blood samples were drawn from the UA, umbilical vein, and maternal radial artery to measure blood gas values and lactate, ephedrine, and phenylephrine concentrations, and to determine maternal and neonatal genotype at nonsynonymous single nucleotide polymorphisms at codons 16 (rs1042713) and 27 (rs1042714) of ADRB2 and codon 298 (rs1799983) of NOS. Clinical variables (UA pH, UA lactate, and dose of vasopressors) among genotypes were compared, and regression models were created to assess the effect of genotype on vasopressor dose and fetal acid-base status. RESULTS: Maternal ADRB2 genotype did not affect the ephedrine dose. Neonatal genotype at codon 16 influenced fetal acid-base status. UA pH was higher in Arg16 homozygous neonates (7.31 ± 0.03 in p.16Arg/Arg vs. 7.25 ± 0.11 in p.16 Arg/Gly and p.16 Gly/Gly; P < 0.001, 95%confidence interval (CI) of difference 0.03 ~ 0.09) and UA lactate was lower (2.67 mmol/L ± 0.99 in p.16Arg/Arg vs 4.28 mmol/L ± 2.79 in. p.16 Arg/Gly and p.16 Gly/Gly; P < 0.001, 95% CI of difference -2.40 ~ -0.82). In neonates born to mothers receiving ephedrine, the magnitude of the difference among genotypes was even greater (pH 7.30 ± 0.02 in p.16Arg/Arg vs. 7.19 ± 0.10 in p.16 Arg/Gly and p.16 Gly/Gly; P < 0.001, 95% CI of difference 0.07 ~ 0.14) and UA lactate was lower (3.66 mmol/L ± 1.30 in p.16Arg/Arg vs. 5.79 mmol/L ± 2.88 in p.16 Arg/Gly and p.16 Gly/Gly; P = 0.003, 95% CI of difference -3.48 ~ -0.80). In a multiple linear regression model (R² = 63.6%; P = 0.03), neonatal ADRB2 genotypes (p.16Arg/Arg and p.27Gln/Glu) and lower neonatal birth weight predicted lower UA lactate concentrations. Phenylephrine dose was not affected by maternal ADRB2 or NOS3 genotypes, and neonatal NOS3 genotype did not affect UA pH or UA lactate. CONCLUSION: In contrast to previous findings in a North American cohort, maternal ADRB2 genotype did not affect ephedrine requirements during elective cesarean delivery in a Chinese cohort. However, our findings suggest that neonatal ADRB2 p.Arg16 homozygosity confers a protective effect against developing ephedrine-induced fetal acidemia.
Assuntos
Acidose/metabolismo , Anestesia Obstétrica/métodos , Raquianestesia/métodos , Cesárea/métodos , Óxido Nítrico Sintase/genética , Receptores Adrenérgicos beta 2/genética , China , Códon , Efedrina/farmacologia , Feminino , Genótipo , Haplótipos , Humanos , Concentração de Íons de Hidrogênio , Fenilefrina/farmacologia , Análise de Regressão , Vasoconstritores/farmacologiaRESUMO
Using a sample of 268 patients and 137 community-based children with DSM-IV ADHD, and 268 school controls, aged 6-15, this study aimed to compare the emotional/behavioral problems and functional impairment between clinic- and community-based children with ADHD. Children's ADHD-related symptoms, a wide range of emotional/behavioral problems, and functional impairments were assessed by the psychiatric interviews and self-, parent- and teacher-reported questionnaires. Both ADHD groups scored higher in parent- and teacher-reported ADHD-related symptoms, wide-ranging emotional/behavioral problems, and impairments in the school, peer, family, and leisure time domains than school controls. However, clinic-based children with ADHD had more physical/developmental problems, more severe functional impairments and teacher-reported hyperactivity/impulsivity symptoms, and higher family burdens than their community counterparts. Our findings suggest that a higher maternal educational level, parent's perceived child functional impairment, teacher's perceived impaired peer relationship and hyperactivity-impulsivity, and child physical and developmental problems may be related to the psychiatric referrals of children with ADHD.
Assuntos
Adaptação Psicológica , Sintomas Afetivos/psicologia , Transtorno do Deficit de Atenção com Hiperatividade/psicologia , Transtorno da Conduta/psicologia , Emoções , Comportamento Impulsivo/psicologia , Adolescente , Transtorno do Deficit de Atenção com Hiperatividade/diagnóstico , Criança , Comportamento Infantil/psicologia , Manual Diagnóstico e Estatístico de Transtornos Mentais , Escolaridade , Docentes , Feminino , Humanos , Masculino , Pais/psicologia , Determinação da Personalidade , Índice de Gravidade de Doença , Inquéritos e Questionários , TaiwanRESUMO
The pathophysiological process of schizophrenia is still unclear. The levels of interleukine-6 (IL-6) and its receptor, soluble IL-6R, have been reported to be elevated in the plasma and cerebrospinal fluid of schizophrenic patients. In this study, we tested the association of genetic variants of IL-6 and IL-6R with schizophrenia. Genotyping of three single nucleotide polymorphisms (SNP) for each IL-6 (IL-6-1, IL-6-2, and IL-6-3) and IL-6R (rs4845617=IL-6R1, rs4553185=IL-6R2, and rs4379670=IL-6R3) gene was performed in 100 patients with schizophrenia and 113 normal controls. The polymorphisms of IL-6R2 were genotyped using Tetra-primer ARMS PCR. IL-6R3 polymorphisms were genotyped using restriction fragment length polymorphism (RFLP) with Apo I enzyme as the restriction enzyme. All other polymorphisms were genotyped using the direct sequencing method. We found a di-nucleotide haplotype block and a tri-nucleotide haplotype block in the genes of IL-6 and IL-6R, respectively. All six SNPs and their haplotypes failed to show a significant association with schizophrenia. The IL-6-2 SNP showed a nominally significant association with the positive symptoms of schizophrenia (p=0.0472). We conclude that the genetic variants of IL-6 and IL-6R are not associated with schizophrenia. In order to verify this result, further study using a larger sample size and exploring the association between the genotype of IL-6-2 and plasma level of IL-6 is recommended.
Assuntos
Interleucina-6/genética , Receptores de Interleucina-6/genética , Esquizofrenia/genética , Adulto , Povo Asiático , Feminino , Estudos de Associação Genética , Predisposição Genética para Doença , Humanos , Masculino , Polimorfismo de Nucleotídeo Único , Esquizofrenia/fisiopatologia , TaiwanRESUMO
Amniotic fluid embolism occurs rarely but is a leading cause of maternal mortality. Regardless of emergent supportive medical treatment, it is associated with a very high mortality rate. Here, we present the case of a 33-year-old pregnant woman with amniotic fluid embolism, who sustained cardiac arrest and was rescued with early application of extracorporeal membrane oxygenation. The management of amniotic fluid embolism is to initially focus on rapid cardiopulmonary stabilization. Hemodynamic decompensation may be transient and recoverable within a few hours. Early application of extracorporeal membrane oxygenation should be considered in patients who are unresponsive to medical therapy before severe organ damage supervenes.