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1.

Objective

To date, the affective temperamental characteristics of adults with attention-deficit hyperactivity disorder (ADHD) have not been studied. The aim of this study is to explore those temperamental characteristics for adults diagnosed with ADHD as measured by the TEMPS-A and then to compare those results with results for individuals diagnosed with bipolar disorder (BD) and with healthy controls.

Methods

Forty adults with ADHD, 40 patients with BD, and 40 healthy controls were enrolled in this study. The groups were matched by age and gender. All patients were assessed using the Structured Clinical Interview for DSM-IV Axis I Disorders (SCID I), the Hamilton Depression Rating Scale, the Hamilton Anxiety Rating Scale, the Young Mania Rating Scale and the Wender Utah Rating Scale. Subjects'' temperamental characteristics were examined using the Turkish version of the Temperament Evaluation of Memphis, Pisa, Paris and San Diego-auto questionnaire (TEMPS-A).

Results

Ten subjects (25%) in the ADHD group and 15 subjects (30%) in the bipolar group had at least one dominant temperament. There was no identifiable dominant temperament in the control group. Compared to the control group, the ADHD group scored higher than other groups on all domains of the TEMPS-A: depressive cyclothymic, irritable and anxious. However, the hyperthymic domain was not higher for this group. Adults with ADHD scored higher on the irritable temperament scale as compared to the BD group. The ADHD and BD groups had similar mean scores for each of the other four temperaments.

Conclusion

The adults diagnosed with ADHD in this study had different temperamental characteristics from the control group, and these temperamental characteristics were similar to those of the bipolar patients. Recognizing the role of temperamental characteristics in adults with ADHD may increase our understanding of ADHD.  相似文献   

2.

Background

Neurobiologic studies have suggested that dysregulation of central noradrenergic systems may be involved in the pathophysiology of attention deficit hyperactivity disorder (ADHD), and it has been hypothesized that genetic changes in the norepinephrine pathways might contribute to dysfunction of the prefrontal cortex circuits in ADHD. We previously reported decreased cerebral blood flow in the right lateral prefrontal cortex and both orbitofrontal cortices in children with ADHD. Genetic investigations have shown that the α-2A-adrenergic receptor gene (ADRA2A) is associated with ADHD. Our aim was to examine whether the presence of a risk allele of the ADRA2A MspI polymorphism is associated with differences in regional cerebral blood flow in boys with ADHD.

Methods

We recruited 21 Korean boys with ADHD (mean age 9.9, standard deviation [SD] 2.7 yr) and 11 age- and sex-matched controls (mean age 10.6 [SD 2.1] yr). Each participant underwent technetium-99m-hexamethylpropylene amine oxime (99mTc-HMPAO) single-photon emission computed tomography. We performed image analyses with voxel-wise t statistics using SPM2.

Results

We found regional hypoperfusion in the prefrontal regions, including the right orbitofrontal and right medial gyri, and the bilateral putamen and cerebellum in boys with ADHD relative to controls (p < 0.0005, uncorrected for multiple comparisons). Boys with ADHD who carried the C allele (n = 13) at the ADRA2A MspI polymorphism had reduced perfusion in the bilateral orbitofrontal regions compared with those without the C allele (n = 8) (p < 0.0005, uncorrected for multiple comparisons).

Limitations

This study was limited by the small sample size, and we did not obtain genetic data from the controls.

Conclusion

Our findings suggest that regional differences in cerebral perfusion in the orbitofrontal cortex represent an intermediate neuroimaging phenotype associated with the ADRA2A MspI polymorphism; these data support the validity of the noradrenergic hypothesis regarding the pathophysiology of ADHD.  相似文献   

3.

Objective

We tested for association of the catechol-O-methyltransferase (COMT) Val158-Met (rs4680) polymorphism with attention-deficit hyperactivity disorder (ADHD) using family-based test in Korean trios.

Methods

A total of 181 subjects with ADHD along with both of their biological parents were recruited from University Hospitals in Korea. We performed a transmission disequilibrium test (TDT) on 181 trios.

Results

In the TDT, we found the over-transmission of the Val allele in children with ADHD (χ2=4.21, p=0.040).

Conclusion

These results suggest that the COMT Val158-Met polymorphism is associated with ADHD among the Korean population. However, this study must be replicated in larger populations.  相似文献   

4.

Objective

Serotonergic dysfunction is quite evident in panic disorder. We investigated whether the C(-1019)G polymorphism of 5-HT1A receptor gene may play a role in the pathogenesis of panic disorder in a Korean population.

Methods

The 5-HT1A receptor genotype for the single nucleotide polymorphism (SNP) C(-1019)G was analyzed in 94 patients and 111 healthy controls. The severity of the patients'' symptoms was examined using the Spielberger State-Trait Anxiety Inventory (STAI), Panic Disorder Severity Scale (PDSS), Anxiety sensitivity index (ASI), Acute Panic Inventory (API) and Hamilton''s Rating Scale for Anxiety (HAM-A).

Results

The distribution of the genotypes of the C/G polymorphism did not differ significantly from those predicted by Hardy-Weinberg equilibrium in patients as well as the controls. No association between the C(-1019)G polymorphism and panic disorder was detected in either the allele frequency or genotype distribution. There was no significant association with genotype distribution in the panic disorder with agoraphobia. However, there was a significant difference of symptom severity between C/C, C/G, and G/G genotype or between C and G allele in panic disorder patients without agoraphobia. PDSS scores were significantly higher in subjects with the G/G genotype or with G allele in patients without agoraphobia, not in total patients or patients with agoraphobia.

Conclusion

Although there were no significant differences in the genotype and allele distributions, we found a significant association between panic symptom severity and the serotonin 1A receptor gene. This result suggests that the serotonin 1A receptor and serotonin may play a role in the pathogenesis of panic disorder.  相似文献   

5.

Objective

Attention deficit hyperactivity disorder (ADHD) is common disorder of the school-age population. ADHD is familial and genetic studies estimate heritability at 80–90%. The aim of the present study was to investigate the association between the genetic type and alleles for RELNgene (rs736707, rs2229864, rs362746, rs362726, rs362691, rs1062831, rs607755, and rs2072403) in Korean children with ADHD.

Methods

The sample consisted of 180 ADHD children and 159 control children. We diagnosed ADHD according to DSM-IV. ADHD symptoms were evaluated with Conners'' Parent Rating Scales and Dupaul Parent ADHD Rating Scales. Blood samples were taken from the 339 subjects, DNA was extracted from blood lymphocytes, and PCR was performed for RELN Polymorphism. Alleles and genotype frequencies were compared using the chi-square test. We compared the allele and genotype frequencies of RELN gene polymorphism in the ADHD and control groups.

Results

This study showed that there was a significant correlation among the frequencies of the rs736707 (OR=1.40, 95% CI=1.03–1.90, p=0.031) of alleles of RELN, but the final conclusions are not definite.

Conclusion

Follow up studies with larger patient or pure subgroups are expected. These results suggested that RELN might be related to ADHD symptoms.  相似文献   

6.

Objective

The etiology of attention deficit hyperactivity disorder (ADHD) has not been entirely clarified yet. Structural and metabolic differences at the prefrontal striatal cerebellary system and the interaction of gene and environment are the main factors that thought to play roles in the etiology. Genetic investigations are performed especially about the dopamine pathways and receptors. In this study; it was aimed to investigate the association of the synaptobrevin-2 (VAMP-2) gene Ins/Del polymorphism and syntaxin 1A gene intron 7 polymorphism, which take place in encoding presynaptic protein, with adult ADHD.

Methods

One hundred thirty-nine patients, having ADHD aging between 18 and 60 years and 106 healthy people as controls were included into the study. DNA samples were extracted from whole blood and genetic analysis were performed.

Results

A significant difference was determined between ADHD and VAMP-2 Ins/Del polymorphism and syntaxin 1A intron 7 polymorphism according to the control group. These polymorphisms were found not to be associated with subtypes of ADHD.

Conclusion

It is supposed that synaptic protein genes together with dopaminergic genes might have roles in the etiology of ADHD.  相似文献   

7.

Background and Purpose

We investigated the relationship between the β-fibrinogen gene (FGB) -455 G/A polymorphism and plasma fibrinogen levels in Korean ischemic stroke patients. We also determined whether the frequency of the -455 G/A polymorphism differed between two subtypes of noncardioembolic stroke: large-artery atherosclerosis (LAA) and small-vessel occlusion (SVO).

Methods

A total of 267 patients with noncardioembolic stroke were enrolled. Plasma fibrinogen and other risk factors for stroke were evaluated. FGB -455 G/A genotypes were determined by polymerase chain reaction with restrictive enzyme Hae III and automatic DNA sequencing.

Results

The FGB -455 G/A polymorphism was significantly associated with an elevated plasma fibrinogen level (p<0.001). The frequency of the A allele in Korean stroke patients was 16.7%. However, the frequency of the -455 G/A polymorphism did not differ between LAA and SVO.

Conclusions

The plasma fibrinogen level might be affected by the -455 G/A polymorphism in noncardioembolic stroke patients. However, the LAA and SVO subtypes of ischemic stroke were not affected by the -455 G/A polymorphism.  相似文献   

8.

Objective

We previously reported an association between dysbindin gene (DTNBP1) variants and bipolar I disorder (BID). This paper expands upon previous findings suggesting that DTNBP1 variants may play a role in the response to acute mood stabilizer treatment.

Methods

A total of 45 BID patients were treated with antimanic agents (lithium, valproate, or carbamazepine) for an average of 36.52 (±19.87) days. After treatment, the patients were evaluated using the Clinical Global Impression (CGI) scale and the Young Mania Rating Scale (YMRS) and genotyped for their DTNBP1 variants (rs3213207 A/G, rs1011313 C/T, rs2005976 G/A, rs760761 C/T and rs2619522 A/C).

Results

There was no association between the variants investigated and response to mood stabilizer treatment, even after considering possible stratification factors.

Conclusion

Although the small number of subjects is an important limitation in our study, DTNBP1 does not seem to be involved in acute antimanic efficacy.  相似文献   

9.

Objective

To evaluate the presence of Major Depressive Disorder (MDD) and Dysthymic Disorder (DD) in a sample of Italian children with Attention Deficit Hyperactivity Disorder (ADHD) and to explore specific features of comorbid depressive disorders in ADHD.

Methods

Three hundred and sixty-six consecutive, drug-naïve Caucasian Italian outpatients with ADHD were recruited and comorbid disorders were evaluated using DSM-IV-TR criteria. To evaluate ADHD severity, parents of all children filled out the ADHD Rating Scale. Thirty-seven children with comorbid MDD or DD were compared with 118 children with comorbid conduct disorder and 122 without comorbidity for age, sex, IQ level, family psychiatric history, and ADHD subtypes and severity.

Results

42 of the ADHD children displayed comorbid depressive disorders: 16 exhibited MDD, 21 DD, and 5 both MDD and DD. The frequency of hyperactive-impulsive subtypes was significantly lower in ADHD children with depressive disorders, than in those without any comorbidity. ADHD children with depressive disorders showed a higher number of familial psychiatric disorders and higher score in the Inattentive scale of the ADHD Rating Scale, than children without any comorbidity. No differences were found for age, sex and IQ level between the three groups.

Conclusion

Consistent with previous studies in other countries, depressive disorders affect a significant proportion of ADHD children in Italy. Patient assessment and subsequent treatment should take into consideration the possible presence of this comorbidity, which could specifically increase the severity of ADHD attention problems.  相似文献   

10.

Background

Attention-deficit hyperactivity disorder (ADHD) is an important psychiatric condition in terms of its prevalence and impact on quality of life. It has one of the highest heritabilities found in psychiatric disorders. A number of association studies exploring several candidate genes in different populations around the world have been carried out. The objective of the present study was to carry out a meta-analysis for 8 common variants located in 5 top candidate genes for ADHD (BDNF, HTR1B, SLC6A2, SLC6A4 and SNAP25); these genes are known to be involved in synaptic transmission and plasticity.

Methods

We performed a search for published genetic association studies that analyzed the candidate polymorphisms in different populations, and we applied state-of-the-art meta-analytical procedures to obtain pooled odds ratios (ORs) and to evaluate potential basis of heterogeneity. We included 75 genetic association studies in these meta-analyses.

Results

A major part of the previously postulated associations were nonconsistent in the pooled odds ratios. We observed a weak significant association with a single nucleotide polymorphism (SNP) located in the 3′ UTR region of the SNAP25 gene (rs3746544, T allele, OR 1.15, 95% confidence interval 1.01–1.31, p = 0.028, I2 = 0%). In addition to the low coverage of genetic variability given by these variants, phenotypic heterogeneity between samples (ADHD subtypes, comorbidities) and genetic background may explain these differences.

Limitations

Limitations of our study include the retrospective nature of our meta-analysis with the incorporation of study-level data from published articles.

Conclusion

To our knowledge, the present study is the largest meta-analysis carried out for ADHD genetics; previously proposed cumulative associations with common polymorphisms in SLC6A4 and HTR1B genes were not supported. We identified a weak consistent association with a common SNP in the SNAP25 gene, a molecule that is known to be central for synaptic transmission and plasticity mechanisms.  相似文献   

11.

Objective

The serotonin transporter (5-HTT) genes are major candidate genes for modulating the suicidal behavior. We investigated the association between serotonin transporter polymorphisms and suicidal behavior in patients with major depressive disorder (MDD).

Methods

Serotonin transporter intron 2 VNTR polymorphism (5-HTTVNTR) and serotonin transporter linked polymorphic region polymorphism (5-HTTLPR) were analyzed in 132 depressed patients with suicidal attempt as well as in 122 normal controls. Hamilton''s 17-item Depression Rating Scale (HDRS), the Risk-Rescue rating system (RRR) and the Lethality Suicide Attempt Rating Scale updated (LSARS-II) were assessed for the depressed patients.

Results

Although not statistically significant, a trend was found such that the 10/10 and 10/12 alleles of 5-HTTVNTR were more common in suicidal subjects than in control subjects. Comparing allele frequency, those with a 10 allele or 10 allele carriers were higher in suicidal subjects than in control subjects. No difference was noted in 5-HTTLPR genotypes and haplotype distribution between the suicidal subjects and control subjects. The RRR scores in subjects with the 10/10 5-HTTVNTR genotype or 10 5-HTTVNTR allele were significantly lower than those in subjects with other genotypes.

Conclusion

These results show the possibility that 10 allele of 5-HTTVNTR is related to suicidal behavior in the suicidal subjects with MDD and suggest that 12 allele of 5-HTTVNTR might be related to more lethality in the suicidal subjects with MDD.  相似文献   

12.

Objective

A self-report scale of adult attention-deficit/hyperactivity disorder, the World Health Organization (WHO) Adult ADHD Self-Report Scale (ASRS) was developed and demonstrated good psychometric properties. The purpose of the present study is to investigate the psychometric properties of the ASRS in Korean samples.

Methods

The ASRS includes 18 questions regarding the frequency of recent DSM-IV Criterion A symptoms of adult ADHD. We examined the factor structure, internal consistency, and convergent validity of the ASRS in Korean samples.

Results

The ASRS demonstrated good internal consistency and test-retest reliability. Correlations between the ASRS and other adult ADHD measures were high, providing evidence of convergent validity. A subsequent exploratory factor analysis indicated that a two-factor solution provided the best fit.

Conclusion

It is expected that this scale would be helpful in clinical settings and research in Korea.  相似文献   

13.

Objective

The purpose of this study was to investigate the association between the T102C polymorphism in the serotonin 2A receptor gene and attention-deficit/hyperactivity disorder (ADHD) in Korean patients.

Methods

A total of 189 Korean children with ADHD as well as both parents of the ADHD children and 150 normal children participated in this study. DNA was extracted from blood samples from all of the subjects, and genotyping was conducted. Based on the allele and genotype information obtained, case-control analyses were performed to compare the ADHD and normal children, and Transmission disequilibrium tests (TDTs) were used for family-based association testing (number of trios=113). Finally, according to the significant finding which was showed in the case-control analyses, the results of behavioral characterastics and neuropsychological test were compared between ADHD children with and without the C allele.

Results

In the case-control analyses, statistically significant differences were detected in the frequencies of genotypes containing the C allele (χ2=4.73, p=0.030). In the family-based association study, TDTs failed to detect linkage disequilibrium of the T102C polymorphism associated with ADHD children. In the ADHD children, both the mean reaction time and the standard deviation of the reaction time in the auditory continuous performance test were longer in the group with the C allele compared to the group without the C allele.

Conclusion

The results of this study suggest that there is a significant genetic association between the T102C polymorphism in the serotonin 2A receptor gene and ADHD in Korean children.  相似文献   

14.

Objective

Attention-deficit/hyperactivity disorder (ADHD) is a complex neurodevelopmental disorder with a strong genetic component. Brain-derived neurotrophic factor (BDNF), which participates in the differentiation and survival of dopaminergic and noradrenergic neurons, could play a role in ADHD development. We aimed to explore the relationships between ADHD and BDNF gene polymorphism.

Methods

We conducted a case-control analysis of 202 ADHD subjects and 159 controls, performed a transmission disequilibrium test on 151 trios, and compared the results of a continuous performance test (CPT) according to the genotype of the three single nucleotide polymorphisms (rs11030101, rs6265, rs16917204) in the BDNF gene.

Results

In the case-control analysis, the AA genotype of the BDNF rs11030101 polymorphism was significantly associated with ADHD only in girls (p=0.024, odds ratio=3.00). The T-G-G haplotype was significantly less frequent (p=0.005) and A-G-G was more frequent (p=0.048) in girls with ADHD than in control girls (global p=0.027). A multivariate analysis of variance for commission errors on the CPT showed a significant main effect for the rs11030101 genotype (p=0.026) and an interaction effect of the rs11030101 genotype and gender (p=0.032) in ADHD probands.

Conclusion

These results provide preliminary evidence for a gender-specific association between BDNF and ADHD in the Korean population.  相似文献   

15.

Objective

The aim of this study was to investigate whether depressive symptoms affect the relationship between adult attention deficit hyperactivity disorder (ADHD) and the quality of life (QOL) in Korean soldiers.

Methods

We evaluated past and present symptoms of adult ADHD (the Korean Adult Attention-Deficit/Hyperactivity Disorder Scale and the Wender Utah Rating Scale), depression (the Center for Epidemiological Studies Depression Scale) and QOL (the Korean version of the SmithKline Beecham ''Quality of Life'' scale) in 131 soldiers during mental health screenings performed by a local mental health center. A structured equation model using AMOS 19.0 was used to evaluate the mediating effect of depression.

Results

In our first model (without depressive symptoms), adult ADHD significantly affected QOL (standardized regression weight=-0.51, p<0.01). After depressive symptoms were added to this model, the direct effect of adult ADHD on QOL was not significant (standardized regression weight=0.10, p=0.43). Regarding the indirect effect, adult ADHD significantly affected depression (standardized regression weight=0.78, p<0.01), and depression also affected QOL (standardized regression weight=-0.79, p<0.01).

Conclusion

Through structural equation modeling, the complete mediation model for the influence of depressive symptoms on ADHD and QOL was confirmed. These findings indicated that it might be important to consider comorbidities, such as depression, when adult ADHD is being evaluated.  相似文献   

16.

Background and Purpose

To determine how cognitive function is related to epilepsy classification and comorbid attention deficit hyperactivity disorder (ADHD) in children with newly diagnosed epilepsy of genetic or unknown etiology.

Methods

The medical records of children aged 6-16 years with newly diagnosed epilepsy of genetic or unknown etiology were reviewed retrospectively. The Korean Education Development Institute-Wechsler Intelligence Scale for Children and the Comprehensive Attention Test were used to evaluate intelligence and attention/executive function, respectively.

Results

The data of a total of 149 children, 103 with focal seizures and 46 with generalized seizures, were reviewed. The prevalence of ADHD was 49.2% (59 out of 120 examined patients), and ADHD patients exhibited significantly worse auditory selective attention, flanker test results, and spatial working memory. Patients with generalized seizures exhibited significantly worse auditory selective and sustained attention than patients with focal seizures. In patients with generalized seizures, sustained attention, flanker test findings, and spatial working memory were found to be affected by ADHD, and auditory selective and sustained attention were significantly worse in patients with benign childhood epilepsy with centrotemporal spikes and ADHD than in their counterparts without ADHD.

Conclusions

Cognitive processes are affected by seizure type and comorbid ADHD. Proper characterization of these neuropsychiatric impairments may allow earlier intervention during the disease course.  相似文献   

17.

Objective

The purpose of this study is to examine the validity of primary screening tools for attention deficit hyperactivity disorder (ADHD) in a community-based sample of children using the Korean version of the Child Behavior Checklist (K-CBCL) and the Korean version of the ADHD Rating Scale (K-ARS).

Methods

A large-scale community-based study for ADHD screening was conducted in the Jeollabuk province in the Republic of Korea. In 2010-2011, we surveyed a total of 49,088 first- and fourth-grade elementary school students. All of the participants in this study were assessed by the K-ARS-Parent version (K-ARS-P) and the K-ARS-Teacher version (K-ARS-T) as the primary screening instruments. The Diagnostic Interview Schedule for Children Version IV (DISC-IV) was used for confirming the diagnosis of ADHD. DISC-IV was administered to subjects who received top 10% scores in the K-ARS-P or K-ARS-T tests.

Results

Of the 3,085 subjects who completed the DISC-IV, 1,215 were diagnosed as having ADHD. A reasonable level of sensitivity, specificity, and negative predictive value were obtained when the total K-ARS-P scores were ≥90th percentile. The positive predictive value and specificity increased significantly when the total K-ARS-P scores were ≥90th percentile, T scores were ≥60 in the attention problems of K-CBCL, and T scores were ≥63 in the total problems of K-CBCL.

Conclusion

These results suggested that the K-ARS-P could effectively serve as a primary screening tool to identify elementary school children with ADHD in the community. Also, there might be some increment in the effectiveness of K-ARS-P when combined with K-CBCL-A and K-CBCL-T as a secondary screening tool.  相似文献   

18.

Background

Attention-deficit/hyperactivity disorder (ADHD) is an early-onset neurodevelopmental disorder with multiple behavioural problems and executive dysfunctions for which neuroimaging studies have reported a variety of abnormalities, with inconsistencies partly owing to confounding by medication and concurrent psychiatric disease. We aimed to investigate the microstructural abnormalities of white matter in unmedicated children and adolescents with pure ADHD and to explore the association between these abnormalities and behavioural symptoms and executive functions.

Methods

We assessed children and adolescents with ADHD and healthy controls using psychiatric interviews. Behavioural problems were rated using the revised Conners’ Parent Rating Scale, and executive functions were measured using the Stroop Colour-Word Test and the Wisconsin Card Sorting test. We acquired diffusion tensor imaging data using a 3 T MRI system, and we compared diffusion parameters, including fractional anisotropy (FA) and mean, axial and radial diffusivities, between the 2 groups.

Results

Thirty-three children and adolescents with ADHD and 35 healthy controls were included in our study. In patients compared with controls, FA was increased in the left posterior cingulum bundle as a result of both increased axial diffusivity and decreased radial diffusivity. In addition, the averaged FA of the cluster in this region correlated with behavioural measures as well as executive function in patients with ADHD.

Limitations

This study was limited by its cross-sectional design and small sample size. The cluster size of the significant result was small.

Conclusion

Our findings suggest that white matter abnormalities within the limbic network could be part of the neural underpinning of behavioural problems and executive dysfunction in patients with ADHD.  相似文献   

19.

Objective

Panic disorder has been suggested to be divided into the respiratory and non-respiratory subtypes in terms of its clinical presentations. The present study aimed to investigate whether there are any differences in treatment response and clinical characteristics between the respiratory and non-respiratory subtypes of panic disorder patients.

Methods

Among the 48 patients those who completed the study, 25 panic disorder patients were classified as the respiratory subtype, whereas 23 panic disorder patients were classified as the non-respiratory subtype. All patients were treated with escitalopram or paroxetine for 12 weeks. We measured clinical and psychological characteristics before and after pharmacotherapy using the Panic Disorder Severity Scale (PDSS), Albany Panic and Phobic Questionnaire (APPQ), Anxiety Sensitivity Index-Revised (ASI-R), State-Trait Anxiety Inventory (STAI-T, STAI-S), Hamilton Anxiety Rating Scale (HAM-A), and Hamilton Depression Rating Scale (HAM-D).

Results

The prevalence of the agoraphobia was significantly higher in the respiratory group than the non-respiratory group although there were no differences in gender and medication between the two groups. The respiratory group showed higher scores on the fear of respiratory symptoms of the ASI-R. In addition, after pharmacotherapy, the respiratory group showed more improvement in panic symptoms than the non-respiratory group.

Conclusion

Panic disorder patients with the respiratory subtype showed more severe clinical presentations, but a greater treatment response to SSRIs than those with non-respiratory subtype. Thus, classification of panic disorder patients as respiratory and non-respiratory subtypes may be useful to predict clinical course and treatment response to SSRIs.  相似文献   

20.

Background

Steroid administration is beneficial in Duchenne muscular dystrophy (DMD), but the response, incidence, and the severity of side effects are variable.

Aims

To investigate whether glucocorticoid receptor (GRL) gene polymorphisms may be responsible for glucocorticoid sensitivity in DMD.

Methods

Forty eight DMD patients treated either with prednisone or deflazacort were subjected to genetic analyses of the GRL gene.

Results

Mutation studies revealed an heterozygous A to G mutation at GRL cDNA position 1220 in three DMD patients resulting in an asparagine to serine amino acid change at amino acid position 363 (N363S). The N363S carrier DMD patients showed a trend towards a later age at loss of ambulation in comparison with non‐carrier patients.

Conclusions

These data suggest that the N363S GRL polymorphism may be implicated in the long term response to glucocorticoids.  相似文献   

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