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Kiyohiro Yamazaki,Yuta Yoshino,Yoko Mori,Shinichiro Ochi,Taku Yoshida,Takashi Ishimaru,Shu-ichi Ueno 대한정신약물학회 2015 CLINICAL PSYCHOPHARMACOLOGY AND NEUROSCIENCE Vol.13 No.3
Nasu-Hakola disease (NHD) is a rare autosomal recessive neuropsychiatric disorder characterized by bone cysts, fractures, and cognitive impairment. Two genes are responsible for the development of NHD; TYROBP and TREM2. Although it presents with typical signs and symptoms, diagnosing this disease remains difficult. This case report describes a male with NHD with no family or past history of bone fractures who was diagnosed using exome sequencing. His frontal lobe psychiatric symptoms recovered partially following treatment with sodium valproate, but not with an antipsychotic.
Keratinocytes in culture accumulate phagocytosed melanosomes in the perinuclear area
Ando, Hideya,Niki, Yoko,Yoshida, Masaki,Ito, Masaaki,Akiyama, Kaoru,Kim, Jin‐,Hwa,Yoon, Tae‐,Jin,Lee, Jeung‐,Hoon,Matsui, Mary S.,Ichihashi, Masamitsu Blackwell Publishing Ltd 2010 Pigment cell & melanoma research Vol.23 No.1
<P><B>Summary</B></P><P>There are many techniques for evaluating melanosome transfer to keratinocytes but the spectrophotometric quantification of melanosomes incorporated by keratinocyte phagocytosis has not been previously reported. Here we describe a new method that allows the spectrophotometric visualization of melanosome uptake by normal human keratinocytes in culture. Fontana‐Masson staining of keratinocytes incubated with isolated melanosomes showed the accumulation of incorporated melanosomes in the perinuclear areas of keratinocytes within 48 h. Electron microscopic observations of melanosomes ingested by keratinocytes revealed that many phagosomes containing clusters of melanosomes or their fragments were localized in the perinuclear area. A known inhibitor of keratinocyte phagocytosis which inhibits protease‐activated receptor‐2, i.e., soybean trypsin inhibitor, decreased melanosome uptake by keratinocytes in a dose‐dependent manner. These data suggest that our method is a useful model to quantitate keratinocyte phagocytosis of melanosomes visually in vitro.</P>
Serotonin regulates glucose-stimulated insulin secretion from pancreatic β cells during pregnancy
Ohara-Imaizumi, Mica,Kim, Hail,Yoshida, Masashi,Fujiwara, Tomonori,Aoyagi, Kyota,Toyofuku, Yukiko,Nakamichi, Yoko,Nishiwaki, Chiyono,Okamura, Tadashi,Uchida, Toyoyoshi,Fujitani, Yoshio,Akagawa, Kimio National Academy of Sciences 2013 PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF Vol.110 No.48
<P>In preparation for the metabolic demands of pregnancy, beta cells in the maternal pancreatic islets increase both in number and in glucose-stimulated insulin secretion (GSIS) per cell. Mechanisms have been proposed for the increased beta cell mass, but not for the increased GSIS. Because serotonin production increases dramatically during pregnancy, we tested whether flux through the ionotropic 5-HT3 receptor (Htr3) affects GSIS during pregnancy. Pregnant Htr3a(-/-) mice exhibited impaired glucose tolerance despite normally increased cell mass, and their islets lacked the increase in GSIS seen in islets from pregnant wild-type mice. Electrophysiological studies showed that activation of Htr3 decreased the resting membrane potential in beta cells, which increased Ca2+ uptake and insulin exocytosis in response to glucose. Thus, our data indicate that serotonin, acting in a paracrine/autocrine manner through Htr3, lowers the beta cell threshold for glucose and plays an essential role in the increased GSIS of pregnancy.</P>
( Kyoichi Kato ),( Ken Fukunaga ),( Koji Kamikozuru ),( Shinichiro Kashiwamura ),( Nobuyuki Hida ),( Yoshio Ohda ),( Naohisa Takeda ),( Koji Yoshida ),( Masaki Iimuro ),( Yoko Yokoyama ),( Risa Kikuya 대한소화기기능성질환·운동학회 2011 Gut and Liver Vol.5 No.1
Background/Aims: Infliximab (IFX), an antibody to tumor necrosis factor, (TNF)-α has effi cacy in treating Crohn`s disease (CD). However, knowledge of the potential effects of IFX on patients` immune profi les is lacking. The purpose of this study was to reveal the immunological effects of IFX. Methods: Twenty-two patients with a CD activity index (CDAI) of 194.2±92.9 and an average duration of disease of 3.26 months and 21 healthy controls were included. Patients were to have their fi rst IFX remission induction therapy with 3 infusions (5 mg/kg) at weeks 0, 2, and 6. Oral 5-aminosalicylic acid was the only ongoing medication in the patient population. Blood samples at baseline, 12 hours after the first infusion and at week 14 were labeled with anti-CD4/ CD25 antibodies for immunohistochemical measurement of regulatory T-cells (Treg). Serum cytokines and chemokines were measured by suspension array and ELISA. Results: CDAI signifi cantly decreased prior to the second IFX infusion (p<0.001). Clinical remission rates were 77.3% and 91% by the second and third infusions, respectively. At baseline, interleukin (IL)-6 (p<0.03), IL-8 (p<0.03), IL-10 (p=0.050), IL-13 (p<0.01), transforming growth factor-β1 (p<0.01), and ``regulated on activation, normal T cell expressed and secreted`` (RANTES) (p<0.01) were elevated in patients. After the initial IFX infusion, TNF-α (p<0.04), IL-6 (p<0.03), interferon (IFN)-γ (p<0.04), IFN-γ-inducible protein-10 (p<0.01), monocyte chemoattractant protein-1 (p<0.01), macrophage infl ammatory protein-1β (p<0.01), and RANTES (p<0.01) were decreased. IFX infusion was associated with an increase in Treg (p<0.01) and a decrease in the Th1 (IFN-γ)/Th2 (IL-4) ratio (p<0.03). Conclusions: IFX use was associated with restoration of the Th1/Th2 balance after a single infusion and seemed to promote induction of naive Th0 lymphocytes to Treg. This knowledge should have clinical relevance. (Gut Liver 2011;5:37-45)
Novel mutations of CDKN1C in Japanese patients with Beckwith-Wiedemann syndrome
Hitomi Yatsuki,Ken Higashimoto,Kosuke Jozaki,Kayoko Koide,Junichiro Okada,Yoriko Watanabe,Nobuhiko Okamoto,Yoshinobu Tsuno,Yoko Yoshida,Kazutoshi Ueda,Kenji Shimizu,Hirofumi Ohashi,Tsunehiro Mukai,Hid 한국유전학회 2013 Genes & Genomics Vol.35 No.2
Beckwith-Wiedemann syndrome (BWS) is an imprinting-related human disease that is characterized by macrosomia, macroglossia, abdominal wall defects, and variable minor features. BWS is caused by several genetic/epigenetic alterations, such as loss of methylation at KvDMR1,gain of methylation at H19-DMR, paternal uniparental disomy of chromosome 11, CDKN1C mutations, and structural abnormalities of chromosome 11. CDKN1C is an imprinted gene with maternal preferential expression, encoding for a cyclin-dependent kinase (CDK) inhibitor. Mutations in CDKN1C are found in 40 % of familial BWS cases with dominant maternal transmission and in *5 % of sporadic cases. In this study, we searched for CDKN1C mutations in 37BWS cases that had no evidence for other alterations. We found five mutations—four novel and one known—from a total of six patients. Four were maternally inherited and one was a de novo mutation. Two frame-shift mutations and one nonsense mutation abolished the QT domain, containing a PCNA-binding domain and a nuclear localization signal. Two missense mutations occurred in the CDK inhibitory domain,diminishing its inhibitory function. The above-mentioned mutations were predicted by in silico analysis to lead to loss of function; therefore, we strongly suspect that such anomalies are causative in the etiology of BWS.
Kyoichi Kato,Ken Fukunaga,Koji Kamikozuru,Shinichiro Kashiwamura,Nobuyuki Hida,Yoshio Ohda,Naohisa Takeda,Koji Yoshida,Masaki Iimuro,Yoko Yokoyama,Risa Kikuyama,Hiroto Miwa,Takayuki Matsumoto 거트앤리버 소화기연관학회협의회 2011 Gut and Liver Vol.5 No.1
Background/Aims: Infliximab (IFX), an antibody to tumor necrosis factor, (TNF)-α has effi cacy in treating Crohn’s disease (CD). However, knowledge of the potential effects of IFX on patients’ immune profi les is lacking. The purpose of this study was to reveal the immunological effects of IFX. Methods: Twenty-two patients with a CD activity index (CDAI)of 194.2±92.9 and an average duration of disease of 3.26months and 21 healthy controls were included. Patients were to have their fi rst IFX remission induction therapy with 3 infusions (5 mg/kg) at weeks 0, 2, and 6. Oral 5-aminosalicylic acid was the only ongoing medication in the patient population. Blood samples at baseline, 12 hours after the first infusion and at week 14 were labeled with anti-CD4/CD25 antibodies for immunohistochemical measurement of regulatory T-cells (Treg). Serum cytokines and chemokines were measured by suspension array and ELISA. Results:CDAI signifi cantly decreased prior to the second IFX infusion (p<0.001). Clinical remission rates were 77.3% and 91% by the second and third infusions, respectively. At baseline, interleukin (IL)-6 (p<0.03), IL-8 (p<0.03), IL-10 (p=0.050), IL-13(p<0.01), transforming growth factor-β1 (p<0.01), and ‘regulated on activation, normal T cell expressed and secreted’(RANTES) (p<0.01) were elevated in patients. After the initial IFX infusion, TNF-α (p<0.04), IL-6 (p<0.03), interferon (IFN)-γ(p<0.04), IFN-γ-inducible protein-10 (p<0.01), monocyte chemoattractant protein-1 (p<0.01), macrophage infl ammatory protein-1β (p<0.01), and RANTES (p<0.01) were decreased. IFX infusion was associated with an increase in Treg (p<0.01)and a decrease in the Th1 (IFN-γ)/Th2 (IL-4) ratio (p<0.03). Conclusions: IFX use was associated with restoration of the Th1/Th2 balance after a single infusion and seemed to promote induction of naïve Th0 lymphocytes to Treg. This knowledge should have clinical relevance.