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1.
BMC Nephrol ; 24(1): 373, 2023 12 15.
Artigo em Inglês | MEDLINE | ID: mdl-38102596

RESUMO

BACKGROUND: Cardiovascular disease (CVD) is a major cause of morbidity and mortality in patients with chronic kidney disease (CKD) and could be related to oxidative stress. Vascular calcification (VC) has been established as a critical risk factor for accelerated CVD. In CKD, phosphorus (Pi), iron (Fe) and Nrf2 are modulators of VC and important agonists and antagonists of oxidative stress. The aim of this study was to determine whether Fe administration, which is commonly used to treat renal anemia, affects aortic Fe overload and VC, and whether Nrf2 and its related genes, ferritin H and HIF-1α, are involved in the development of VC. METHODS: A CKD model was created in rats by administering adenine and simultaneously feeding a high-Pi diet. In addition to control and CKD rats without Fe administration (No-Fe group), Fe was administered orally (PO-Fe group) or intraperitoneally (IP-Fe group) to CKD animals to clarify the effects of Fe administration on the aortic Fe and calcium (Ca) contents and the involvement of Nrf2 and its induced antioxidative proteins, ferritin H and HIF-1α, in VC. RESULTS: The aortic Fe content increased significantly in the IP-Fe group, which was closely correlated with liver HAMP (hepcidin) expression in all animals. Fe administration had no significant effect on the aortic Ca and Pi contents regardless of the route of Fe administration. The aortic mRNA level of Nrf2 was significantly increased in the IP-Fe group and correlated with serum Pi levels and aortic Fe contents, which could respond to oxidative stress. Notably, the mRNA level of Nrf2 was also significantly correlated with the mRNA levels of ferritin H and HIF-1α. Since we could not measure Nrf2 protein levels in this study, we confirmed the upregulation of HMOX1 and NQO1 mRNA expression in parallel with Nrf2 mRNA. CONCLUSION: Parenteral Fe administration increased aortic Fe in parallel with the liver HAMP mRNA level but did not affect VC. Aortic Nrf2 mRNA levels correlated significantly with aortic Fe and serum Pi levels and with aortic mRNA levels of ferritin H and HIF-1α as well as HMOX1 and NQO1.


Assuntos
Doenças Cardiovasculares , Insuficiência Renal Crônica , Calcificação Vascular , Humanos , Ratos , Animais , Ferro/metabolismo , Fósforo , Fator 2 Relacionado a NF-E2/metabolismo , Insuficiência Renal Crônica/tratamento farmacológico , Insuficiência Renal Crônica/complicações , Ferritinas , Cálcio/metabolismo , Calcificação Vascular/tratamento farmacológico , Calcificação Vascular/etiologia , Doenças Cardiovasculares/complicações , RNA Mensageiro
2.
J Hum Genet ; 66(6): 569-578, 2021 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-33262389

RESUMO

Missense and truncating variants in protocadherin 19 (PCDH19) cause PCDH19-related epilepsy. In this study, we aimed to investigate variations in distributional characteristics and the clinical implications of variant type in PCDH19-related epilepsy. We comprehensively collected PCDH19 missense and truncating variants from the literature and by sequencing six exons and intron-exon boundaries of PCDH19 in our cohort. We investigated the distribution of each type of variant using the cumulative distribution function and tested for associations between variant types and phenotypes. The distribution of missense variants in patients was clearly different from that of healthy individuals and was uniform throughout the extracellular cadherin (EC) domain, which consisted of six highly conserved domains. Truncating variants showed two types of distributions: (1) located from EC domain 1 to EC domain 4, and (2) located from EC domain 5 to the cytoplasmic domain. Furthermore, we also found that later onset seizures and milder intellectual disability occurred in patients with truncating variants located from EC domain 5 to the cytoplasmic domain compared with those of patients with other variants. Our findings provide the first evidence of two types of truncating variants in the PCDH19 gene with regard to distribution and the resulting clinical phenotype.


Assuntos
Caderinas/genética , Epilepsia/genética , Estudos de Associação Genética , Convulsões/genética , Idade de Início , Pré-Escolar , Estudos de Coortes , Epilepsia/patologia , Feminino , Predisposição Genética para Doença , Humanos , Lactente , Masculino , Mutação de Sentido Incorreto/genética , Fenótipo , Protocaderinas , Convulsões/patologia
3.
BMC Microbiol ; 20(1): 217, 2020 07 20.
Artigo em Inglês | MEDLINE | ID: mdl-32689952

RESUMO

BACKGROUND: Lactobacillus gasseri OLL2809 can highly induce interleukin (IL)-12 production in immune cells. Even though beneficial properties of this strain for both humans and animals have been reported, the mechanism by which the bacteria induces the production of IL-12 in immune cells remains elusive. In this study, we investigated the mechanism of induction of IL-12 using a mouse macrophage cell line J774.1. RESULTS: Inhibition of phagocytosis of L. gasseri OLL2809, and myeloid differentiation factor 88 and Toll-like receptors (TLRs) 7 and 9 signalling attenuated IL-12 production in J774.1 cells. Total RNA and genomic DNA of L. gasseri OLL2809, when transferred to the J774.1 cells, also induced IL-12 production. The difference in the IL-12-inducing activity of Lactobacilli is attributed to the susceptibility to phagocytosis, but not to a difference in the total RNA and genomic DNA of each strain. CONCLUSION: We concluded that total RNA and genomic DNA of phagocytosed L. gasseri OLL2809 induce IL-12 production in J774.1 cell via TLRs 7 and 9, and the high IL-12-inducing activity of L. gasseri OLL2809 is due to its greater susceptibility to phagocytosis.


Assuntos
DNA Bacteriano/imunologia , Interleucina-12/metabolismo , Lactobacillus gasseri/genética , Macrófagos/imunologia , Glicoproteínas de Membrana/metabolismo , RNA Bacteriano/imunologia , Receptor 7 Toll-Like/metabolismo , Receptor Toll-Like 9/metabolismo , Animais , Técnicas de Cultura de Células , Linhagem Celular , Genoma Bacteriano , Lactobacillus gasseri/imunologia , Macrófagos/citologia , Macrófagos/microbiologia , Camundongos , Fator 88 de Diferenciação Mieloide/metabolismo , Fagocitose , Transdução de Sinais , Regulação para Cima
4.
Epilepsia ; 60(9): 1870-1880, 2019 09.
Artigo em Inglês | MEDLINE | ID: mdl-31418850

RESUMO

OBJECTIVE: Pathogenic variants of KCNQ2, which encode a potassium channel subunit, cause either benign (familial) neonatal epilepsy-B(F)NE)-or KCNQ2 encephalopathy (KCNQ2 DEE). We examined the characteristics of KCNQ2 variants. METHODS: KCNQ2 pathogenic variants were collected from in-house data and two large disease databases with their clinical phenotypes. Nonpathogenic KCNQ2 variants were collected from the Genome Aggregation Database (gnomAD). Pathogenicity of all variants was reevaluated with clinical information to exclude irrelevant variants. The cumulative distribution plots of B(F)NE, KCNQ2 DEE, and gnomAD KCNQ2 variants were compared. Several algorithms predicting genetic variant pathogenicity were evaluated. RESULTS: A total of 259 individuals or pedigrees with 216 different pathogenic KCNQ2 variants and 2967 individuals with 247 different nonpathogenic variants were deemed eligible for the study. Compared to the distribution of nonpathogenic variants, B(F)NE and KCNQ2 DEE missense variants occurred in five and three specific KCNQ2 regions, respectively. Comparison between B(F)NE and KCNQ2 DEE sets showed that B(F)NE missense variants frequently localized to the intracellular domain between S2 and S3, whereas those of KCNQ2 DEE were more frequent in S6, and its adjacent pore domain, as well as in the intracellular domain between S6 and helix A. The scores of Protein Variation Effect Analyzer (PROVEAN) and Percent Accepted Mutation (PAM) 30 prediction algorithms were associated with phenotypes of the variant loci. SIGNIFICANCE: Missense variants in the intracellular domain between S2 and S3 are likely to cause B(F)NE, whereas those in S6 and its adjacent regions are more likely to cause KCNQ2 DEE. With such regional specificities of variants, PAM30 is a helpful tool to examine the possibility that a novel KCNQ2 variant is a B(F)NE or KCNQ2 DEE variant in genetic analysis.


Assuntos
Encefalopatias/genética , Epilepsia Neonatal Benigna/genética , Canal de Potássio KCNQ2/genética , Espasmos Infantis/genética , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , Mutação , Mutação de Sentido Incorreto , Linhagem , Fenótipo
5.
Dig Endosc ; 31(4): 413-421, 2019 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-30723945

RESUMO

OBJECTIVES: This study aimed to compare the diagnostic yield of mucosal incision-assisted biopsy (MIAB) and endoscopic ultrasound-guided fine-needle aspiration (EUS-FNA) with a rapid on-site evaluation (ROSE) for gastric subepithelial lesions (SEL) suspected of being gastrointestinal stromal tumors (GIST) with an intraluminal growth pattern. METHODS: This was a prospective randomized, cross-over multicenter study. The primary outcome was the diagnostic yield of EUS-FNA and MIAB. The secondary outcomes were the technical success rate, complication rate, procedure time and biopsy frequency. RESULTS: A total of 47 patients were randomized to the MIAB group (n = 23) and EUS-FNA group (n = 24). There was no significant difference in the diagnostic yield of MIAB and EUS-FNA (91.3% vs 70.8%, P = 0.0746). The complication rates of MIAB and EUS-FNA did not differ to a statistically significant extent. The mean procedure time in the MIAB group was significantly longer than that in the EUS-FNA group (34 vs 26 min, P = 0.0011). CONCLUSIONS: The diagnostic yield of MIAB was satisfactorily as high as EUS-FNA with ROSE for gastric SEL with an intraluminal growth pattern.


Assuntos
Ressecção Endoscópica de Mucosa/métodos , Aspiração por Agulha Fina Guiada por Ultrassom Endoscópico/métodos , Neoplasias Gástricas/patologia , Idoso , Estudos Cross-Over , Detecção Precoce de Câncer , Ressecção Endoscópica de Mucosa/instrumentação , Aspiração por Agulha Fina Guiada por Ultrassom Endoscópico/instrumentação , Endoscopia do Sistema Digestório , Feminino , Gastroscopia , Humanos , Japão , Masculino , Pessoa de Meia-Idade , Estudos Prospectivos
6.
Eat Weight Disord ; 23(6): 761-768, 2018 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-30221324

RESUMO

PURPOSE: Shoplifting, prevalent in patients diagnosed with bulimia nervosa (BN), is a serious behavioral problem in eating disorder (ED) patients. However, little is known about its overall presence, etiology, and consequences. This study aimed to determine whether shoplifting occurs before or after the onset of ED and to investigate the prevalence and correlates of shoplifting in ED patients. METHODS: This was a cross-sectional study of 284 treatment-seeking female patients aged 13-45 with EDs [171 anorexia nervosa (AN); 113 BN]. Shoplifting, impulsive behaviors (self-injury, suicide attempt, sexual promiscuity, alcohol, and illicit drug use), depression, self-esteem, and clinical features of EDs were assessed with an interview. RESULTS: Lifetime shoplifting prevalence was 28.5% (81/284) with 70.4% (57/81) occurring before ED onset. Multivariate logistic regression analysis revealed that depression [odds ratio (OR), 2.63; 95% confidence interval (CI), 1.24-5.60], alcohol abuse (OR, 3.91; 95% CI 1.34-11.38), illicit substance use (OR, 14.42; 95% CI, 1.65-125.86), and self-esteem (OR, 0.90; 95% CI; 0.82-0.99) were associated with lifetime shoplifting, while illness duration, BN, and ED symptom severity were not. CONCLUSIONS: Shoplifting is common in ED patients and precedes ED onset in most patients with a shoplifting history, although the causal relationship between shoplifting and EDs remains inconclusive. Shoplifting may be associated with impulsive behaviors (e.g., alcohol and illicit drug use), depression, and low self-esteem, but not with ED severity. Future research should focus on the unrecognized role of shoplifting as a marker to identify patients at risk of impulsive behaviors and consider treatment options. LEVEL OF EVIDENCE: Level V, observational cross-sectional descriptive study.


Assuntos
Transtornos da Alimentação e da Ingestão de Alimentos/psicologia , Comportamento Impulsivo/fisiologia , Autoimagem , Roubo/estatística & dados numéricos , Adolescente , Adulto , Estudos Transversais , Depressão/psicologia , Feminino , Humanos , Japão , Pessoa de Meia-Idade , Tentativa de Suicídio/psicologia , Roubo/psicologia , Adulto Jovem
7.
Scand J Gastroenterol ; 51(4): 448-55, 2016.
Artigo em Inglês | MEDLINE | ID: mdl-26540372

RESUMO

OBJECTIVE: Although the World Health Organisation (WHO) defined a novel classification of gastroenteropancreatic neuroendocrine tumours (NETs) in 2010, indications for endoscopic resection of rectal NETs in the guidelines were based on evidence accumulated for carcinoid tumours defined by a previous classification. This study was designed to clarify indications for endoscopic resection of rectal NETs corresponding to the new WHO classifications. MATERIAL AND METHODS: One hundred-seventy rectal NETs resected endoscopically from April 2001 to March 2012 were histologically re-classified according to the WHO 2010 criteria. The clinicopathological features of these lesions were analysed, and the short- and long-term outcomes of endoscopic resection were evaluated. RESULTS: Of the 170 rectal NETs, 166 were histopathologically diagnosed as NET G1 and four as NET G2. Thirty-eight tumours (22.4%) were positive for lymphovascular invasion, a percentage higher than expected. Although the curative resection rate was low (65.3%), en bloc (98.8%) and complete (85.9%) resection rates were high. Modified endoscopic mucosal resection (88.0%) and endoscopic submucosal dissection (92.2%) resulted in significantly higher complete resection rates than conventional endoscopic mucosal resection (36.4%). No patient experienced tumour recurrence, despite the low curative resection rate. CONCLUSION: Despite the low curative resection rate, prognosis after endoscopic resection of rectal NETs was excellent. Prospective large-scale, long-term studies are required to determine whether NET G2 and tumours >1 cm should be included in the indication for endoscopic resection and whether tumours with lymphovascular invasion can be followed up without additional surgery.


Assuntos
Tumores Neuroendócrinos/cirurgia , Proctoscopia , Neoplasias Retais/cirurgia , Adulto , Idoso , Idoso de 80 Anos ou mais , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Tumores Neuroendócrinos/classificação , Neoplasias Retais/classificação , Estudos Retrospectivos , Fatores de Tempo , Resultado do Tratamento , Organização Mundial da Saúde , Adulto Jovem
8.
J Dairy Sci ; 99(2): 915-923, 2016 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-26686726

RESUMO

Yogurt is generally recognized as a beneficial food for our health, but research into its physiological effects has focused mainly on intestinal dysfunctions such as constipation and diarrhea. We previously found yogurt fermented with Lactobacillus delbrueckii ssp. bulgaricus OLL1073R-1 (hereafter OLL1073R-1) could reduce risks of catching the common cold and flu in human trials. It was assumed that immunostimulatory exopolysaccharide (EPS) produced from OLL1073R-1 play an important role in this context. However, few studies have examined the immunostimulatory effects of traditional Bulgarian yogurts fermented with different strains of lactobacilli and their metabolites. Therefore, we screened 139 L. delbrueckii ssp. bulgaricus strains and identified OLL1073R-1 as the most robust producer of EPS. This strain was also the only strain that induced the production of IFN-γ in vitro. Oral administration of the EPS or yogurt fermented with OLL1073R-1 and Streptococcus thermophilus OLS3059 (OLL1073R-1 yogurt) augmented natural killer (NK) cell activity and induced IFN-γ production in spleen cells in mice, whereas 2 other yogurts fermented with other strains had no effect on NK cell activity. Cellular preparations of the OLL1073R-1 strain also slightly augmented NK cell activity, but were less effective than EPS itself. The EPS-dependent stimulation of NK cell activity was abrogated in IFN-γ knockout mice and in myeloid differentiation factor 88 knockout mice. Furthermore, IFN-γ production from spleen cells stimulated with EPS was completely blocked with both anti-IL-12 and anti-IL-18 antibodies in vitro. These findings suggest that NK cell activation by OLL1073R-1 yogurt is EPS-dependent, occurs via IL-12- and IL-18-mediated IFN-γ production, and requires myeloid differentiation factor 88. We showed that traditional Bulgarian yogurt could exert immunostimulatory effects by selecting starter strains and part of the mechanisms depend on IFN-γ inducible EPS produced from L. delbrueckii ssp. bulgaricus. Further investigations on processes of fermentation to increase of the EPS may lead to the development of new functional foods that keep our immune functions stable.


Assuntos
Fermentação , Células Matadoras Naturais/imunologia , Lactobacillus delbrueckii/metabolismo , Ativação Linfocitária/efeitos dos fármacos , Polissacarídeos Bacterianos/farmacologia , Iogurte/análise , Animais , Reatores Biológicos , Humanos , Interferon gama/biossíntese , Lactobacillus/metabolismo , Camundongos , Camundongos Knockout , Baço/efeitos dos fármacos , Baço/metabolismo , Streptococcus thermophilus/metabolismo , Iogurte/microbiologia
9.
Osaka City Med J ; 61(2): 73-80, 2015 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-26995851

RESUMO

BACKGROUND: Non-psychotic delusions are reported to be associated with depression and anxiety. When these delusions occur in high-functioning pervasive developmental disorder (HFPDD) children, they are often misdiagnosed as schizophrenia and have consequently been studied less. This study has three goals: to investigate the prevalence of non-psychotic delusions in HFPDD children, to test the hypothesis that HFPDD children are more likely to have non-psychotic delusions than non-HFPDD children, and to test the hypothesis that non-psychotic delusions are associated with depression and anxiety. METHODS: This is a cross-sectional and case-control study. The participants were 45 HFPDD children (cases) and 51 children without HFPDD (controls). Semi-structured interviews were conducted to assess the presence of non-psychotic delusions. We used the Child Behavior Checklist (CBCL) to assess levels of anxiety and depression. RESULTS: Of the cases, 62.2% had non-psychotic delusions, which was significantly higher than controls (25.5%, p<0.001, OR: 4.81, 95% CI: 2.01-11.51). Cases tended to score higher for internalizing problems (including anxiety and depression) on the CBCL than controls (69.8±9.4 vs 65.9±10.4, t= 1.9, p=0.062). Cases with non-psychotic delusions scored significantly higher for internalizing problems in CBCL than children without non-psychotic delusions (72.2±7.7 vs 65.7±10.7, t=2.4, p= 0.022). CONCLUSIONS: More than half of the HFPDD children were suffering from non-psychotic delusions, and these delusions were associated with anxiety and depression. Therefore, accurate diagnoses of non-psychotic delusions should be conducted for appropriate treatments to be prescribed.


Assuntos
Ansiedade , Transtornos Globais do Desenvolvimento Infantil , Delusões , Depressão , Adolescente , Ansiedade/diagnóstico , Ansiedade/etiologia , Estudos de Casos e Controles , Criança , Transtornos Globais do Desenvolvimento Infantil/complicações , Transtornos Globais do Desenvolvimento Infantil/diagnóstico , Transtornos Globais do Desenvolvimento Infantil/psicologia , Cognição , Estudos Transversais , Delusões/diagnóstico , Delusões/epidemiologia , Delusões/etiologia , Depressão/diagnóstico , Depressão/etiologia , Feminino , Humanos , Relações Interpessoais , Japão/epidemiologia , Masculino , Competência Mental , Prevalência , Escalas de Graduação Psiquiátrica , Testes Psicológicos
10.
Osaka City Med J ; 60(2): 63-71, 2014 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-25803881

RESUMO

BACKGROUND: Studies have shown that children with pervasive developmental disorder (PDD) have high rates of sensory hypersensitivity. In addition, a few recent studies suggested that sensory hypersensitivity was related to anxiety or depression. However, most studies had methodological limitations because they included children with mental retardation and did not examine broadband psychopathology. Therefore, the purpose of this study was to examine the prevalence of sensory hypersensitivity in children with high-functioning PDD (HFPDD) and the correlation among sensory hypersensitivity, various characteristics, and broadband psychopathology. METHODS: We assessed 132 children with HFPDD (aged 6-15 years, 75% male) that were divided into sensory hypersensitivity (HS) and sensory non-hypersensitivity (non-HS) groups. A logistic regression model was used to examine correlations among sensory hypersensitivity, age, gender, PDD subtypes, socioeconomic status, and broadband psychopathology, including symptoms of anxiety and depression. RESULTS: Of the 132 children with HFPDD, 65.9% (n = 87) were categorized as HS and 34.1% (n = 45) as non-HS. The most common sensory hypersensitivity was auditory. Logistic regression analyses revealed that sensory hypersensitivity in HFPDD was significantly associated with autistic disorder and symptoms of anxiety and depression. CONCLUSIONS: Majority of children with HFPDD exhibited sensory hypersensitivity. Our findings suggested that sensory hypersensitivity may be a core feature of HFPDD and is possibly correlated to symptoms of anxiety and depression. We propose that sensory hypersensitivity in children with PDD should be aggressively assessed.


Assuntos
Transtornos Globais do Desenvolvimento Infantil/epidemiologia , Transtornos de Sensação/epidemiologia , Limiar Sensorial , Estimulação Acústica , Adolescente , Fatores Etários , Ansiedade/epidemiologia , Ansiedade/psicologia , Limiar Auditivo , Estudos de Casos e Controles , Criança , Transtornos Globais do Desenvolvimento Infantil/diagnóstico , Transtornos Globais do Desenvolvimento Infantil/psicologia , Depressão/epidemiologia , Depressão/psicologia , Feminino , Humanos , Japão/epidemiologia , Modelos Logísticos , Masculino , Percepção Olfatória , Estimulação Luminosa , Prevalência , Fatores de Risco , Transtornos de Sensação/diagnóstico , Transtornos de Sensação/psicologia , Olfato , Paladar , Percepção Gustatória , Tato , Percepção do Tato , Percepção Visual
11.
Osaka City Med J ; 60(1): 1-10, 2014 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-25272562

RESUMO

BACKGROUND: In previous studies for children with pervasive developmental disorder (PDD), the prevalence for psychiatric comorbidities has varied because of their methodological differences. In this research, our PDD subjects were strictly limited by age and IQ scores, and we utilized a semi-structured interview to diagnose their coexisting disorders. The purpose of this study is to identify reliable prevalence and types of psychiatric comorbidities in children with high-functioning PDD (HFPDD). METHODS: The subjects were 49 children aged 6-15 years with HFPDD. In order to diagnose the comorbidities among them, we used the Japanese version of the Schedule for Affective Disorders and Schizophrenia for School-Age Children-Present and Lifetime version. RESULTS: Forty-eight cases (98%) met the criteria for at least one comorbidity. The median number of the present comorbidities per child was 2, and the mode was 2. Depression (37%), attention deficit hyperactivity disorder (49%), and oppositional defiant disorder (45%) were frequently observed. CONCLUSIONS: Our finding indicates the high prevalence of comorbidities and the variety of the comorbid disorders in children with HFPDD. It is important to be aware of those comorbid disorders to provide the children with effective treatments.


Assuntos
Transtornos Globais do Desenvolvimento Infantil/epidemiologia , Adolescente , Fatores Etários , Transtorno do Deficit de Atenção com Hiperatividade/diagnóstico , Transtorno do Deficit de Atenção com Hiperatividade/epidemiologia , Transtornos de Deficit da Atenção e do Comportamento Disruptivo/diagnóstico , Transtornos de Deficit da Atenção e do Comportamento Disruptivo/epidemiologia , Criança , Comportamento Infantil , Transtornos Globais do Desenvolvimento Infantil/diagnóstico , Transtornos Globais do Desenvolvimento Infantil/psicologia , Comorbidade , Depressão/diagnóstico , Depressão/epidemiologia , Feminino , Humanos , Inteligência , Testes de Inteligência , Entrevistas como Assunto , Japão/epidemiologia , Masculino , Valor Preditivo dos Testes , Prevalência , Escalas de Graduação Psiquiátrica
12.
Traffic ; 12(10): 1383-93, 2011 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-21740490

RESUMO

VAMP7 or tetanus neurotoxin-insensitive vesicle- associated membrane protein (TI-VAMP) has been proposed to regulate apical transport in polarized epithelial cells, axonal transport in neurons and lysosomal exocytosis. To investigate the function of VAMP7 in vivo, we generated VAMP7 knockout mice. Here, we show that VAMP7 knockout mice are indistinguishable from control mice and display a similar localization of apical proteins in the kidney and small intestine and a similar localization of axonal proteins in the nervous system. Neurite outgrowth of cultured mutant hippocampal neurons was reduced in mutant neurons. However, lysosomal exocytosis was not affected in mutant fibroblasts. Our results show that VAMP7 is required in neurons to extend axons to the full extent. However, VAMP7 does not seem to be required for epithelial cell polarity and lysosomal exocytosis.


Assuntos
Polaridade Celular/fisiologia , Exocitose/fisiologia , Lisossomos/fisiologia , Metaloendopeptidases/farmacologia , Proteínas R-SNARE/fisiologia , Toxina Tetânica/farmacologia , Animais , Axônios/ultraestrutura , Western Blotting , Encéfalo/efeitos dos fármacos , Encéfalo/metabolismo , Encéfalo/ultraestrutura , Células Cultivadas , Fibroblastos/efeitos dos fármacos , Fibroblastos/metabolismo , Fibroblastos/ultraestrutura , Mucosa Gástrica/metabolismo , Intestino Delgado/efeitos dos fármacos , Intestino Delgado/metabolismo , Intestino Delgado/ultraestrutura , Rim/efeitos dos fármacos , Rim/metabolismo , Rim/ultraestrutura , Lisossomos/efeitos dos fármacos , Lisossomos/metabolismo , Camundongos , Camundongos Knockout , Microscopia de Fluorescência , Neurônios/efeitos dos fármacos , Neurônios/metabolismo , Neurônios/ultraestrutura , Proteínas R-SNARE/genética , Estômago/efeitos dos fármacos , Estômago/ultraestrutura
13.
Osaka City Med J ; 59(1): 23-34, 2013 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-23909078

RESUMO

BACKGROUND: Anxiety symptoms in children with pervasive developmental disorder (PDD) often appear to be not as severe as those in children with anxiety disorders or often appear to be the core features of PDD, and therefore, they do not meet the diagnostic criteria for anxiety disorders. In this study, we assessed anxiety broadly in line with dimensions of anxiety and not with an operational categorical diagnosis. The objective of this study was to reveal that children with high-functioning PDD have more anxiety than children in the general population. METHODS: Forty-six children with high-functioning PDD (6-15 years old) were assessed for total anxiety and six subcategories of anxiety, including separation anxiety, generalized anxiety, social phobia, panic/agoraphobia, physical injury fears, and obsessive-compulsiveness. Anxiety in children with high-functioning PDD was compared to that in children of the general population and to that in children with anxiety disorders in a previous study. RESULTS: Children with high-functioning PDD had significantly more symptoms of total anxiety and all subcategories of anxiety except for social phobias than children in the general population, and had significantly fewer symptoms of total anxiety, separation anxiety, generalized anxiety, and social phobias than children with anxiety disorders. CONCLUSIONS: As anxiety in children with high-functioning PDD does not always meet diagnostic criteria for an anxiety disorder, psychiatrists must pay much attention to anxiety and not only depend on diagnostic criteria in order to not miss the chance of treating these children.


Assuntos
Comportamento do Adolescente , Ansiedade/psicologia , Comportamento Infantil , Transtornos Globais do Desenvolvimento Infantil/psicologia , Adolescente , Fatores Etários , Ansiedade/diagnóstico , Ansiedade/epidemiologia , Estudos de Casos e Controles , Distribuição de Qui-Quadrado , Criança , Transtornos Globais do Desenvolvimento Infantil/diagnóstico , Transtornos Globais do Desenvolvimento Infantil/epidemiologia , Comorbidade , Feminino , Humanos , Japão/epidemiologia , Masculino , Valor Preditivo dos Testes , Escalas de Graduação Psiquiátrica , Fatores Sexuais
14.
PCN Rep ; 2(2): e89, 2023 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-38868150

RESUMO

Background: Family-based treatment (FBT) is effective for the treatment of anorexia nervosa (AN) in children and adolescents. However, its availability in Japan is limited because it requires adherence to specific guidelines, commitment of sufficient time for frequent outpatient treatment, as well as the entire family's participation. We present a case of a patient with AN who was treated with modified FBT during hospitalization. Case Presentation: Our patient was a 14-year-old girl with AN. She was hospitalized for malnutrition and dehydration, and was introduced to FBT during this period. After discharge, she continued FBT on an outpatient basis and was in remission 1 year later. Conclusion: This case shows that initiation of FBT during hospitalization may be useful in patients with physically severe AN. Flexible adaptation to each of the diverse healthcare systems and cultural differences may be necessary for the widespread use of FBT.

15.
Medicine (Baltimore) ; 102(8): e33055, 2023 Feb 22.
Artigo em Inglês | MEDLINE | ID: mdl-36827025

RESUMO

RATIONALE: Ornithine transcarbamylase (OTC) deficiency, a urea cycle disorder, is a rare congenital metabolic error that leads to hyperammonemia. Psychiatric symptoms of hyperammonemia are nonspecific and can cause autism spectrum disorder (ASD)-like symptoms and attention-deficit/hyperactivity disorder (ADHD)-like symptoms. Some studies report that OTC deficiency is often initially diagnosed as ASD or ADHD. However, there are no reports of OTC deficiency comorbid with ASD and ADHD. PATIENT CONCERNS: The patient is 17-year-old girl diagnosed with OTC deficiency at 3 years of age. She had behavioral problems since childhood, including depressed mood, irritability, and impulsive behavior; however, they were considered OTC-mediated nonspecific psychiatric symptoms. Therefore, the patient had not been appropriately assessed for ASD and ADHD. She presented with depressed mood and self-harm at 17 years of age. DIAGNOSES: We diagnosed her with ASD and ADHD based on her medical history and semistructured interviews. INTERVENTIONS: We focused her ASD and ADHD traits and discussed strategies with her for better adaptive living. OUTCOMES: Our interventions resulted in her better social adjustment. LESSONS: Physicians should consider the possibility of comorbid ASD and ADHD in individuals with OTC, facilitating appropriate and intervention for better outcomes.


Assuntos
Transtorno do Deficit de Atenção com Hiperatividade , Transtorno do Espectro Autista , Hiperamonemia , Doença da Deficiência de Ornitina Carbomoiltransferase , Humanos , Feminino , Criança , Adolescente , Transtorno do Deficit de Atenção com Hiperatividade/epidemiologia , Transtorno do Espectro Autista/epidemiologia , Comorbidade
16.
Nihon Shokakibyo Gakkai Zasshi ; 109(8): 1360-6, 2012 Aug.
Artigo em Japonês | MEDLINE | ID: mdl-22863959

RESUMO

A 70-year-old man presented with a 0-IIc lesion in the lower esophagus. He underwent esophageal endoscopic submucosal dissection (ESD). The pathological diagnosis was squamous cell carcinoma with small cell carcinoma. The patient received chemoradiotherapy after ESD, but this was interrupted because of myelosuppression. Follow-up endoscopic ultrasonography (EUS) at 5 months after the ESD revealed paracardial lymph node swelling (17mm). He underwent EUS-guided fine-needle aspiration (FNA), and lymph node metastasis of small-cell-type endocrine cell carcinoma was diagnosed. He received VP-16 chemotherapy but died 22 months after the ESD.


Assuntos
Biópsia por Agulha Fina/métodos , Carcinoma de Células Pequenas/patologia , Endossonografia , Neoplasias Esofágicas/patologia , Metástase Linfática/patologia , Idoso , Carcinoma de Células Pequenas/secundário , Humanos , Masculino
17.
Neuropsychiatr Dis Treat ; 18: 2421-2430, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-36304993

RESUMO

Purpose: Internet addiction (IA) has become a global problem and is one of the most common reasons for children to be referred for intervention because IA results in social and educational dysfunction and conflict with parents. IA is associated with various comorbid psychiatric disorders, with notable association between IA and family factors. However, little is known about parental psychopathology. This study aimed to examine the prevalence of IA and association between IA and maternal depression and anxiety in clinical samples after adjusting for comorbidities. Patients and Methods: A cross-sectional study was conducted between April 2020 and August 2021 at the Department of Neuropsychiatry of Osaka Metropolitan University Hospital in Japan. A total of 218 clinically referred children and adolescents (aged 8 to 15 years) were assessed using the Internet Addiction Test, which is one of the most popular questionnaires to evaluate IA, the Child Behavior Checklist (CBCL), and The Kiddie Schedule for Affective Disorders and Schizophrenia for School-Age Children-Present and Lifetime Version. IA was defined as a total score on the Internet Addiction Test ≥ 50. Of those, for the evaluation of maternal depression and anxiety, the 132 mothers of the children who were referred after January 2021 completed K6 as well. Results: A total of 68 participants (31.2%) presented with IA and had higher total and externalizing scores of CBCL, social anxiety disorder, and oppositional defiant disorder compared to those without IA. IA was associated with the six-item Kessler scale scores of mothers, being raised by single parents, and anxiety disorders after adjusting for age, sex, and family income (95% CI: 1.023-1.215). Conclusion: Maternal depression and anxiety may be one of the risk factors for children and adolescents to develop IA. Care for maternal depression and anxiety may contribute to intervention for children and adolescents with IA.

18.
Front Psychiatry ; 13: 860278, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35573381

RESUMO

Irritability is one of the most common reasons for which children and adolescents are referred for psychiatric evaluation and care. However, clinical irritability is difficult to define; thus, its prevalence varies widely. Chronic irritability may be associated with sensory processing difficulties (SPD), but little is known about the relationship between these two factors in clinical populations. In this study, we examined the prevalence of chronic irritability and its association with SPD in 166 children aged 5-16 years who were referred to the psychiatric outpatient clinic of the Osaka City University Hospital. Chronic irritability and parent-reported scores for the Short Sensory Profile, Infant Behavior Checklist-Revised, Child Behavior Checklist, and Kiddie Schedule for Affective Disorders and Schizophrenia for School-Age Children (Present and Lifetime version) questionnaires were used for assessment. A total of 22 children (13.2%) presented with chronic irritability (i.e., the irritability group) and were more likely to have oppositional defiant disorder, externalizing problems, and attention issues than those without chronic irritability (i.e., the control group). SPD were reported in eight (36%) patients in the irritability group and in 21 (15%) in the control group (p = 0.029). Moreover, compared to the control group, the irritability group showed a significant difference in almost all items of the Short Sensory Profile. Chronic irritability was associated with more severe overall SPD, even after adjusting for possible confounding factors (internalizing and externalizing problems, age, sex, and low income). We provide evidence to support our hypothesis that chronic irritability is associated with SPD in children and adolescents. Therefore, SPD should be assessed to provide appropriate interventions in children and adolescents with chronic irritability.

19.
Medicine (Baltimore) ; 100(22): e26233, 2021 Jun 04.
Artigo em Inglês | MEDLINE | ID: mdl-34087907

RESUMO

RATIONALE: Coronavirus disease 2019 (COVID-19) is affecting mental health profoundly. Previous studies have reported pandemic-related anxiety. Anxiety disorder and autism spectrum disorder (ASD) are common comorbidities. However, there has been no report of any patient with undiagnosed ASD who developed anxiety disorders caused by the COVID-19 pandemic. In this case report, we describe an 8-year-old Japanese boy with undiagnosed ASD who developed COVID-19 phobia, resulting in avoidant restrictive food intake disorder (ARFID). PATIENT CONCERNS: As COVID-19 was highly publicized in the mass media and the risk of droplet infection was emphasized upon, the patient began to fear viral contamination from food, culminating in a refusal to eat or even swallow his saliva. He was admitted to a pediatric medical center in Osaka with life-threatening dehydration and was then referred to our child psychiatry department. DIAGNOSIS: We diagnosed the patient with COVID-19 phobia resulting in ARFID. We identified ASD traits from his present social communication skills and developmental history. INTERVENTIONS: We provided psychoeducation of ASD for the parents and administered supportive psychotherapy. OUTCOMES: Shortly after our intervention to relieve his ASD-related anxiety, his dysphagia improved. LESSONS: Our findings suggest that children with undiagnosed ASD may develop COVID-19 phobia. In these cases, intervention for ASD may be more appropriate than starting treatment for anxiety disorders as the first-line option. COVID-19 is the biggest pandemic in the recent past, and more undiagnosed ASD patients who develop COVID-19 phobia may seek treatment. Clinicians should consider the underlying ASD in these patients and assess their developmental history and present social communication skills.


Assuntos
Transtorno do Espectro Autista/complicações , Transtorno do Espectro Autista/psicologia , COVID-19/psicologia , Transtornos Fóbicos/complicações , Transtorno Alimentar Restritivo Evitativo , Criança , Humanos , Masculino , SARS-CoV-2
20.
Nihon Shokakibyo Gakkai Zasshi ; 107(11): 1791-7, 2010 Nov.
Artigo em Japonês | MEDLINE | ID: mdl-21071896

RESUMO

A 74 year-old man underwent subtotal gastrectomy for advanced gastric cancer in 2000. The histological type of the cancer was signet-ring cell carcinoma, and the clinical stage was stage II (T2, N1, M0). In June 2008 the patient was referred to our hospital complaining of dysphagia. Esophageal endoscopy revealed a circular stenosis with covered with normal mucosa between the lower esophagus and the esophago-gastric junction. Histologically, samples obtained by endoscopic ultrasound-guided fine-needle aspiration (EUS-FNA) revealed signet-ring cell carcinoma. Our experience suggests that EUS-FNA was useful for the histological diagnosis of recurrence of gastric cancer.


Assuntos
Biópsia por Agulha Fina/métodos , Carcinoma de Células em Anel de Sinete/patologia , Recidiva Local de Neoplasia , Neoplasias Gástricas/patologia , Idoso , Carcinoma de Células em Anel de Sinete/cirurgia , Diagnóstico Diferencial , Endossonografia , Acalasia Esofágica/patologia , Humanos , Masculino , Neoplasias Gástricas/cirurgia
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