Application of the Final DSM-5 Criteria for Young Children with Autism Spectrum Disorder / Satoshi SUMI in Autism - Open Access, 4-3 ([01/06/2014])  

Public ISBD [article]  inAutism - Open Access > 4-3 [01/06/2014] . - 6 p. Titre : Application of the Final DSM-5 Criteria for Young Children with Autism Spectrum Disorder Type de document : Texte imprimé et/ou numérique Auteurs : Satoshi SUMI, Auteur ; Taishi MIYACHI, Auteur ; Kimie OHYA, Auteur ; Kei OHASHI, Auteur ; Shinji SAITOH, Auteur Article en page(s) : 6 p. Langues : Anglais (eng) Mots-clés : Autism  Autism spectrum disorder  Neurodevelopmental disorders  DSM-5  Social communication disorder Index. décimale : PER Périodiques Résumé : Background:DSM-5 has received considerable attention all over the world. This study aimed to compare the diagnostic outcomes using both DSM--TR and the final version of DSM-5.Methods: One hundred eighty children under 5 years old at risk for neurodevelopmental disorders had been detected by a regional screening system in Nagoya, Japan. We collected their information from diagnostic records including scores of the Pervasive Developmental Disorders Autism Society Japan Rating Scale. Results: All 8 cases with autistic disorder and all 27 with Asperger's disorder corresponded to the ASD criterion. Although 2 cases with PDD-NOS were suspected of social communication disorder, 27 cases with PDD-NOS corresponded to ASD. Among 47 cases with specific language impairment, 5 cases were suspected of social communication disorder. Conclusion: Most of the cases (62/64) with PDDs met the ASD criterion, but the abolition of subcategories of PDDs results in one criteria of ASD covering a wide range, from extremely severe to more mild types. Further investigation and discussion are necessary for an appropriate use of DSM-5. En ligne : https://dx.doi.org/0.4172/2165-7890.1000135 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=409 [article] Application of the Final DSM-5 Criteria for Young Children with Autism Spectrum Disorder [Texte imprimé et/ou numérique] / Satoshi SUMI, Auteur ; Taishi MIYACHI, Auteur ; Kimie OHYA, Auteur ; Kei OHASHI, Auteur ; Shinji SAITOH, Auteur . - 6 p. Langues : Anglais (eng) in Autism - Open Access > 4-3 [01/06/2014] . - 6 p. Mots-clés : Autism  Autism spectrum disorder  Neurodevelopmental disorders  DSM-5  Social communication disorder Index. décimale : PER Périodiques Résumé : Background:DSM-5 has received considerable attention all over the world. This study aimed to compare the diagnostic outcomes using both DSM--TR and the final version of DSM-5.Methods: One hundred eighty children under 5 years old at risk for neurodevelopmental disorders had been detected by a regional screening system in Nagoya, Japan. We collected their information from diagnostic records including scores of the Pervasive Developmental Disorders Autism Society Japan Rating Scale. Results: All 8 cases with autistic disorder and all 27 with Asperger's disorder corresponded to the ASD criterion. Although 2 cases with PDD-NOS were suspected of social communication disorder, 27 cases with PDD-NOS corresponded to ASD. Among 47 cases with specific language impairment, 5 cases were suspected of social communication disorder. Conclusion: Most of the cases (62/64) with PDDs met the ASD criterion, but the abolition of subcategories of PDDs results in one criteria of ASD covering a wide range, from extremely severe to more mild types. Further investigation and discussion are necessary for an appropriate use of DSM-5. En ligne : https://dx.doi.org/0.4172/2165-7890.1000135 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=409

Brain region-specific altered expression and association of mitochondria-related genes in autism / Ayyappan ANITHA in Molecular Autism, (November 2012)  

Public ISBD [article]  inMolecular Autism > (November 2012) . - 12 p. Titre : Brain region-specific altered expression and association of mitochondria-related genes in autism Type de document : Texte imprimé et/ou numérique Auteurs : Ayyappan ANITHA, Auteur ; Kazuhiko NAKAMURA, Auteur ; Ismail THANSEEM, Auteur ; Kazuo YAMADA, Auteur ; Yoshimi IWAYAMA, Auteur ; Tomoko TOYOTA, Auteur ; Hideo MATSUZAKI, Auteur ; Taishi MIYACHI, Auteur ; Satoru YAMADA, Auteur ; Masatsugu TSUJII, Auteur ; Kenji J. TSUCHIYA, Auteur ; Kaori MATSUMOTO, Auteur ; Yasuhide IWATA, Auteur ; Katsuaki SUZUKI, Auteur ; Hironobu ICHIKAWA, Auteur ; Toshiro SUGIYAMA, Auteur ; Takeo YOSHIKAWA, Auteur ; Norio MORI, Auteur Année de publication : 2012 Article en page(s) : 12 p. Langues : Anglais (eng) Mots-clés : Autism  Mitochondria  Postmortem brain  NEFL  Uncoupling protein  Metaxin Index. décimale : PER Périodiques Résumé : BACKGROUND:Mitochondrial dysfunction (MtD) has been observed in approximately five percent of children with autism spectrum disorders (ASD). MtD could impair highly energy-dependent processes such as neurodevelopment, thereby contributing to autism. Most of the previous studies of MtD in autism have been restricted to the biomarkers of energy metabolism, while most of the genetic studies have been based on mutations in the mitochondrial DNA (mtDNA). Despite the mtDNA, most of the proteins essential for mitochondrial replication and function are encoded by the genomic DNA; so far, there have been very few studies of those genes. Therefore, we carried out a detailed study involving gene expression and genetic association studies of genes related to diverse mitochondrial functions.METHODS:For gene expression analysis, postmortem brain tissues (anterior cingulate gyrus (ACG), motor cortex (MC) and thalamus (THL)) from autism patients (n=8) and controls (n=10) were obtained from the Autism Tissue Program (Princeton, NJ, USA). Quantitative real-time PCR arrays were used to quantify the expression of 84 genes related to diverse functions of mitochondria, including biogenesis, transport, translocation and apoptosis. We used the delta delta Ct ([increment][increment]Ct) method for quantification of gene expression. DNA samples from 841 Caucasian and 188 Japanese families were used in the association study of genes selected from the gene expression analysis. FBAT was used to examine genetic association with autism.RESULTS:Several genes showed brain region-specific expression alterations in autism patients compared to controls. Metaxin 2 (MTX2), neurofilament, light polypeptide (NEFL) and solute carrier family 25, member 27 (SLC25A27) showed consistently reduced expression in the ACG, MC and THL of autism patients. NEFL (P = 0.038; Z-score 2.066) and SLC25A27 (P = 0.046; Z-score 1.990) showed genetic association with autism in Caucasian and Japanese samples, respectively. The expression of DNAJC19, DNM1L, LRPPRC, SLC25A12, SLC25A14, SLC25A24 and TOMM20 were reduced in at least two of the brain regions of autism patients.CONCLUSIONS:Our study, though preliminary, brings to light some new genes associated with MtD in autism. If MtD is detected in early stages, treatment strategies aimed at reducing its impact may be adopted. En ligne : http://dx.doi.org/10.1186/2040-2392-3-12 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=202 [article] Brain region-specific altered expression and association of mitochondria-related genes in autism [Texte imprimé et/ou numérique] / Ayyappan ANITHA, Auteur ; Kazuhiko NAKAMURA, Auteur ; Ismail THANSEEM, Auteur ; Kazuo YAMADA, Auteur ; Yoshimi IWAYAMA, Auteur ; Tomoko TOYOTA, Auteur ; Hideo MATSUZAKI, Auteur ; Taishi MIYACHI, Auteur ; Satoru YAMADA, Auteur ; Masatsugu TSUJII, Auteur ; Kenji J. TSUCHIYA, Auteur ; Kaori MATSUMOTO, Auteur ; Yasuhide IWATA, Auteur ; Katsuaki SUZUKI, Auteur ; Hironobu ICHIKAWA, Auteur ; Toshiro SUGIYAMA, Auteur ; Takeo YOSHIKAWA, Auteur ; Norio MORI, Auteur . - 2012 . - 12 p. Langues : Anglais (eng) in Molecular Autism > (November 2012) . - 12 p. Mots-clés : Autism  Mitochondria  Postmortem brain  NEFL  Uncoupling protein  Metaxin Index. décimale : PER Périodiques Résumé : BACKGROUND:Mitochondrial dysfunction (MtD) has been observed in approximately five percent of children with autism spectrum disorders (ASD). MtD could impair highly energy-dependent processes such as neurodevelopment, thereby contributing to autism. Most of the previous studies of MtD in autism have been restricted to the biomarkers of energy metabolism, while most of the genetic studies have been based on mutations in the mitochondrial DNA (mtDNA). Despite the mtDNA, most of the proteins essential for mitochondrial replication and function are encoded by the genomic DNA; so far, there have been very few studies of those genes. Therefore, we carried out a detailed study involving gene expression and genetic association studies of genes related to diverse mitochondrial functions.METHODS:For gene expression analysis, postmortem brain tissues (anterior cingulate gyrus (ACG), motor cortex (MC) and thalamus (THL)) from autism patients (n=8) and controls (n=10) were obtained from the Autism Tissue Program (Princeton, NJ, USA). Quantitative real-time PCR arrays were used to quantify the expression of 84 genes related to diverse functions of mitochondria, including biogenesis, transport, translocation and apoptosis. We used the delta delta Ct ([increment][increment]Ct) method for quantification of gene expression. DNA samples from 841 Caucasian and 188 Japanese families were used in the association study of genes selected from the gene expression analysis. FBAT was used to examine genetic association with autism.RESULTS:Several genes showed brain region-specific expression alterations in autism patients compared to controls. Metaxin 2 (MTX2), neurofilament, light polypeptide (NEFL) and solute carrier family 25, member 27 (SLC25A27) showed consistently reduced expression in the ACG, MC and THL of autism patients. NEFL (P = 0.038; Z-score 2.066) and SLC25A27 (P = 0.046; Z-score 1.990) showed genetic association with autism in Caucasian and Japanese samples, respectively. The expression of DNAJC19, DNM1L, LRPPRC, SLC25A12, SLC25A14, SLC25A24 and TOMM20 were reduced in at least two of the brain regions of autism patients.CONCLUSIONS:Our study, though preliminary, brings to light some new genes associated with MtD in autism. If MtD is detected in early stages, treatment strategies aimed at reducing its impact may be adopted. En ligne : http://dx.doi.org/10.1186/2040-2392-3-12 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=202

Impact of School Closures due to COVID-19 on Children with Neurodevelopmental Disorders in Japan / Naomi KAWAOKA in Journal of Autism and Developmental Disorders, 52-5 (May 2022)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 52-5 (May 2022) . - p.2149-2155 Titre : Impact of School Closures due to COVID-19 on Children with Neurodevelopmental Disorders in Japan Type de document : Texte imprimé et/ou numérique Auteurs : Naomi KAWAOKA, Auteur ; Kei OHASHI, Auteur ; Satomi FUKUHARA, Auteur ; Taishi MIYACHI, Auteur ; Tomoko ASAI, Auteur ; Masayuki IMAEDA, Auteur ; Shinji SAITOH, Auteur Article en page(s) : p.2149-2155 Langues : Anglais (eng) Mots-clés : Attention Deficit Disorder with Hyperactivity/psychology  Autism Spectrum Disorder/epidemiology/psychology  COVID-19/prevention & control  Child  Humans  Japan/epidemiology  Neurodevelopmental Disorders/diagnosis/epidemiology/psychology  Attention-deficit hyperactivity disorder  Autism spectrum disorder  Covid-19  Intellectual disorder  Neurodevelopmental disorder Index. décimale : PER Périodiques Résumé : In March 2020, many schools were closed to prevent the spread of COVID-19 in Japan, and it is predicted that many children, especially those with neurodevelopmental disorders (NDDs), will be affected emotionally and behaviorally. Here, we examined the impact of school closures due to COVID-19 on school-aged children with NDDs using the Child Behavior Checklist. Totally, data on 121 children diagnosed with autism spectrum disorder, attention-deficit hyperactivity disorder, and/or intellectual disorder were analyzed and it was found that externalizing and aggressive behavior increased in all NDDs, regardless of the type of diagnosis. A clear prospect is important for children with NDDs children to lead a stable life, and more generous supports for children with NDDs and their families are needed. En ligne : http://dx.doi.org/10.1007/s10803-021-05119-0 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=476 [article] Impact of School Closures due to COVID-19 on Children with Neurodevelopmental Disorders in Japan [Texte imprimé et/ou numérique] / Naomi KAWAOKA, Auteur ; Kei OHASHI, Auteur ; Satomi FUKUHARA, Auteur ; Taishi MIYACHI, Auteur ; Tomoko ASAI, Auteur ; Masayuki IMAEDA, Auteur ; Shinji SAITOH, Auteur . - p.2149-2155. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 52-5 (May 2022) . - p.2149-2155 Mots-clés : Attention Deficit Disorder with Hyperactivity/psychology  Autism Spectrum Disorder/epidemiology/psychology  COVID-19/prevention & control  Child  Humans  Japan/epidemiology  Neurodevelopmental Disorders/diagnosis/epidemiology/psychology  Attention-deficit hyperactivity disorder  Autism spectrum disorder  Covid-19  Intellectual disorder  Neurodevelopmental disorder Index. décimale : PER Périodiques Résumé : In March 2020, many schools were closed to prevent the spread of COVID-19 in Japan, and it is predicted that many children, especially those with neurodevelopmental disorders (NDDs), will be affected emotionally and behaviorally. Here, we examined the impact of school closures due to COVID-19 on school-aged children with NDDs using the Child Behavior Checklist. Totally, data on 121 children diagnosed with autism spectrum disorder, attention-deficit hyperactivity disorder, and/or intellectual disorder were analyzed and it was found that externalizing and aggressive behavior increased in all NDDs, regardless of the type of diagnosis. A clear prospect is important for children with NDDs children to lead a stable life, and more generous supports for children with NDDs and their families are needed. En ligne : http://dx.doi.org/10.1007/s10803-021-05119-0 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=476

Increased plasma lipoprotein lipase activity in males with autism spectrum disorder / Takaharu HIRAI in Research in Autism Spectrum Disorders, 77 (September 2020)  

Public ISBD [article]  inResearch in Autism Spectrum Disorders > 77 (September 2020) . - 101630 Titre : Increased plasma lipoprotein lipase activity in males with autism spectrum disorder Type de document : Texte imprimé et/ou numérique Auteurs : Takaharu HIRAI, Auteur ; Noriyoshi USUI, Auteur ; Keiko IWATA, Auteur ; Taishi MIYACHI, Auteur ; Kenji J. TSUCHIYA, Auteur ; Min-Jue XIE, Auteur ; Kazuhiko NAKAMURA, Auteur ; Masatsugu TSUJII, Auteur ; Toshiro SUGIYAMA, Auteur ; Hideo MATSUZAKI, Auteur Article en page(s) : 101630 Langues : Anglais (eng) Mots-clés : Autism spectrum disorder  Lipoprotein lipase  GPIHBP1  Lipid metabolism  ADI-R Index. décimale : PER Périodiques Résumé : Background Autism spectrum disorder (ASD) is a neurodevelopmental disorder with complex genetics, characterized by impaired social communication and repetitive behaviors and interests. The involvement of lipid metabolism in ASD pathophysiology has been demonstrated in previous studies; however, the molecular mechanisms of abnormal lipid metabolism are not fully understood. A mutation in Lipoprotein lipase (LPL), which has central roles in lipid metabolism, has been identified in patients with ASD. We have reported that Lpl is downregulated in ASD model mice. Therefore, we explored the role of LPL in lipid metabolism in ASD patients. Methods We quantified LPL amount, LPL activity, and glycosylphosphatidylinositol-anchored high-density lipoprotein-binding protein 1 (GPIHBP1) amount in the plasma of ASD male subjects (n = 28) compared with typical development (TD) controls (n = 28), using enzyme-linked immunosorbent assay for LPL amount and fluorometric assays for LPL activity. We examined the correlations of plasma LPL with GPIHBP1 and clinical characteristic scores from the Autism Diagnostic Interview-Revised (ADI-R). Results There was higher LPL activity, but not LPL amount, in the plasma of ASD subjects compared with controls. Receiver operating characteristics analysis also demonstrated that pure LPL activity (LPL activity/LPL amount) is a useful indicator to distinguish ASD from TD controls. There were no correlations between plasma LPL and ADI-R scores; however, LPL activity was negatively correlated with GPIHBP1 levels in the plasma of ASD subjects. Conclusions Our results demonstrate increased activity of plasma LPL, regulated by GPIHBP1, in ASD, providing novel insights into the lipid metabolism associated with ASD pathophysiology. En ligne : https://doi.org/10.1016/j.rasd.2020.101630 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=432 [article] Increased plasma lipoprotein lipase activity in males with autism spectrum disorder [Texte imprimé et/ou numérique] / Takaharu HIRAI, Auteur ; Noriyoshi USUI, Auteur ; Keiko IWATA, Auteur ; Taishi MIYACHI, Auteur ; Kenji J. TSUCHIYA, Auteur ; Min-Jue XIE, Auteur ; Kazuhiko NAKAMURA, Auteur ; Masatsugu TSUJII, Auteur ; Toshiro SUGIYAMA, Auteur ; Hideo MATSUZAKI, Auteur . - 101630. Langues : Anglais (eng) in Research in Autism Spectrum Disorders > 77 (September 2020) . - 101630 Mots-clés : Autism spectrum disorder  Lipoprotein lipase  GPIHBP1  Lipid metabolism  ADI-R Index. décimale : PER Périodiques Résumé : Background Autism spectrum disorder (ASD) is a neurodevelopmental disorder with complex genetics, characterized by impaired social communication and repetitive behaviors and interests. The involvement of lipid metabolism in ASD pathophysiology has been demonstrated in previous studies; however, the molecular mechanisms of abnormal lipid metabolism are not fully understood. A mutation in Lipoprotein lipase (LPL), which has central roles in lipid metabolism, has been identified in patients with ASD. We have reported that Lpl is downregulated in ASD model mice. Therefore, we explored the role of LPL in lipid metabolism in ASD patients. Methods We quantified LPL amount, LPL activity, and glycosylphosphatidylinositol-anchored high-density lipoprotein-binding protein 1 (GPIHBP1) amount in the plasma of ASD male subjects (n = 28) compared with typical development (TD) controls (n = 28), using enzyme-linked immunosorbent assay for LPL amount and fluorometric assays for LPL activity. We examined the correlations of plasma LPL with GPIHBP1 and clinical characteristic scores from the Autism Diagnostic Interview-Revised (ADI-R). Results There was higher LPL activity, but not LPL amount, in the plasma of ASD subjects compared with controls. Receiver operating characteristics analysis also demonstrated that pure LPL activity (LPL activity/LPL amount) is a useful indicator to distinguish ASD from TD controls. There were no correlations between plasma LPL and ADI-R scores; however, LPL activity was negatively correlated with GPIHBP1 levels in the plasma of ASD subjects. Conclusions Our results demonstrate increased activity of plasma LPL, regulated by GPIHBP1, in ASD, providing novel insights into the lipid metabolism associated with ASD pathophysiology. En ligne : https://doi.org/10.1016/j.rasd.2020.101630 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=432

Investigation of the serum levels of anterior pituitary hormones in male children with autism / Keiko IWATA in Molecular Autism, (October 2011)  

Public ISBD [article]  inMolecular Autism > (October 2011) . - 6 p. Titre : Investigation of the serum levels of anterior pituitary hormones in male children with autism Type de document : Texte imprimé et/ou numérique Auteurs : Keiko IWATA, Auteur ; Hideo MATSUZAKI, Auteur ; Taishi MIYACHI, Auteur ; Chie SHIMMURA, Auteur ; Shiro SUDA, Auteur ; Kenji J. TSUCHIYA, Auteur ; Kaori MATSUMOTO, Auteur ; Katsuaki SUZUKI, Auteur ; Yasuhide IWATA, Auteur ; Kazuhiko NAKAMURA, Auteur ; Masatsugu TSUJII, Auteur ; Toshiro SUGIYAMA, Auteur ; Kohji SATO, Auteur ; Norio MORI, Auteur Année de publication : 2011 Article en page(s) : 6 p. Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : BACKGROUND:The neurobiological basis of autism remains poorly understood. The diagnosis of autism is based solely on behavioural characteristics because there are currently no reliable biological markers. To test whether the anterior pituitary hormones and cortisol could be useful as biological markers for autism, we assessed the basal serum levels of these hormones in subjects with autism and normal controls.FINDINGS:Using a suspension array system, we determined the serum levels of six anterior pituitary hormones, including adrenocorticotropic hormone and growth hormone, in 32 drug-naive subjects (aged 6 to 18 years, all boys) with autism, and 34 healthy controls matched for age and gender. We also determined cortisol levels in these subjects by enzyme-linked immunosorbent assay. Serum levels of adrenocorticotropic hormone, growth hormone and cortisol were significantly higher in subjects with autism than in controls. In addition, there was a significantly positive correlation between cortisol and adrenocorticotropic hormone levels in autism.CONCLUSION:Our results suggest that increased basal serum levels of adrenocorticotropic hormone accompanied by increased cortisol and growth hormone may be useful biological markers for autism. En ligne : http://dx.doi.org/10.1186/2040-2392-2-16 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=149 [article] Investigation of the serum levels of anterior pituitary hormones in male children with autism [Texte imprimé et/ou numérique] / Keiko IWATA, Auteur ; Hideo MATSUZAKI, Auteur ; Taishi MIYACHI, Auteur ; Chie SHIMMURA, Auteur ; Shiro SUDA, Auteur ; Kenji J. TSUCHIYA, Auteur ; Kaori MATSUMOTO, Auteur ; Katsuaki SUZUKI, Auteur ; Yasuhide IWATA, Auteur ; Kazuhiko NAKAMURA, Auteur ; Masatsugu TSUJII, Auteur ; Toshiro SUGIYAMA, Auteur ; Kohji SATO, Auteur ; Norio MORI, Auteur . - 2011 . - 6 p. Langues : Anglais (eng) in Molecular Autism > (October 2011) . - 6 p. Index. décimale : PER Périodiques Résumé : BACKGROUND:The neurobiological basis of autism remains poorly understood. The diagnosis of autism is based solely on behavioural characteristics because there are currently no reliable biological markers. To test whether the anterior pituitary hormones and cortisol could be useful as biological markers for autism, we assessed the basal serum levels of these hormones in subjects with autism and normal controls.FINDINGS:Using a suspension array system, we determined the serum levels of six anterior pituitary hormones, including adrenocorticotropic hormone and growth hormone, in 32 drug-naive subjects (aged 6 to 18 years, all boys) with autism, and 34 healthy controls matched for age and gender. We also determined cortisol levels in these subjects by enzyme-linked immunosorbent assay. Serum levels of adrenocorticotropic hormone, growth hormone and cortisol were significantly higher in subjects with autism than in controls. In addition, there was a significantly positive correlation between cortisol and adrenocorticotropic hormone levels in autism.CONCLUSION:Our results suggest that increased basal serum levels of adrenocorticotropic hormone accompanied by increased cortisol and growth hormone may be useful biological markers for autism. En ligne : http://dx.doi.org/10.1186/2040-2392-2-16 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=149

Reliability and Validity of Autism Diagnostic Interview-Revised, Japanese Version / Kenji J. TSUCHIYA in Journal of Autism and Developmental Disorders, 43-3 (March 2013)  

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Serum levels of soluble platelet endothelial cell adhesion molecule-1 and vascular cell adhesion molecule-1 are decreased in subjects with autism spectrum disorder / Yosuke KAMENO in Molecular Autism, (June 2013)  

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