更新于：2024-05-01
Chanarin-Dorfman Syndrome
Chanarin-Dorfman综合征
更新于：2024-05-01
基本信息
别名 CDS、CHANARIN-DORFMAN DISEASE、CHANARIN-DORFMAN SYNDROME + [28] |
简介 A form of neutral lipid storage disease characterized by the accumulation of lipid vacuoles in leukocytes (so-called Jordan's anomaly seen in peripheral blood smears) and a variety of other cell types. The clinical picture consists of congenital ichthyosis of the congenital ichthyosiform erythroderma type together with variable multisystem involvement. Manifestations include hepatosplenomegaly, myopathy, intestinal disease, growth retardation, cataracts, sensorineural hearing loss, and intellectual disability, among others. |
关联
Polymorphisms in ENAM, AMBN, and KLK4 Predispose Egyptian Adults to Dental Caries: A Cross-Sectional Study
Análisis de Medidas bioparamétricas Para Correlacionar Los hábitos Diarios y Reducir la tensión Arterial
The Continuous Monitoring of Cerebral Function, Oxygen Perfusion and Consumption in Extremely Premature Newborns
100 项与 Chanarin-Dorfman综合征 相关的临床结果
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100 项与 Chanarin-Dorfman综合征 相关的转化医学
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2024-02-20Gut
Milk fat globule-epidermal growth factor 8 (MFGE8) prevents intestinal fibrosis.
Article
作者: Sinan Lin ; Jie Wang ; Pranab K Mukherjee ; Ren Mao ; Gail West ; Doug Czarnecki ; Shuai Zhao ; Quang Tam Nguyen ; Michael Elias ; William J Massey ; WeiWei Liu ; Yan Wang ; Ankita Prasad ; Suhanti Banerjee ; Idan Goren ; Jyotsna Chandra ; Hongnga T Le ; Dina Dejanovic ; Jiannan Li ; Minhu Chen ; Stefan Holubar ; Mitchell Olman ; Brian Southern ; Shaomin Hu ; Ilyssa O Gordon ; Kamran Alabai ; Claudio Fiocchi ; Florian Rieder
OBJECTIVE:
Intestinal fibrosis is considered an inevitable consequence of chronic IBD, leading to stricture formation and need for surgery. During the process of fibrogenesis, extracellular matrix (ECM) components critically regulate the function of mesenchymal cells. We characterised the composition and function of ECM in fibrostenosing Crohn's disease (CD) and control tissues.
DESIGN:
Decellularised full-thickness intestinal tissue platforms were tested using three different protocols, and ECM composition in different tissue phenotypes was explored by proteomics and validated by quantitative PCR (qPCR) and immunohistochemistry. Primary human intestinal myofibroblasts (HIMFs) treated with milk fat globule-epidermal growth factor 8 (MFGE8) were evaluated regarding the mechanism of their antifibrotic response, and the action of MFGE8 was tested in two experimental intestinal fibrosis models.
RESULTS:
We established and validated an optimal decellularisation protocol for intestinal IBD tissues. Matrisome analysis revealed elevated MFGE8 expression in CD strictured (CDs) tissue, which was confirmed at the mRNA and protein levels. Treatment with MFGE8 inhibited ECM production in normal control HIMF but not CDs HIMF. Next-generation sequencing uncovered functionally relevant integrin-mediated signalling pathways, and blockade of integrin αvβ5 and focal adhesion kinase rendered HIMF non-responsive to MFGE8. MFGE8 prevented and reversed experimental intestinal fibrosis in vitro and in vivo.
CONCLUSION:
MFGE8 displays antifibrotic effects, and its administration may represent a future approach for prevention of IBD-induced intestinal strictures.
2024-02-16Journal of psychiatric research
Preliminary examination of ADHD inattentive and cognitive disengagement syndrome symptoms in relation to probe-caught mind-wandering during a sustained attention to response task.
Article
作者: Kelsey K Wiggs ; Joseph W Fredrick ; Leanne Tamm ; Jeffery N Epstein ; John O Simon ; Stephen P Becker
OBJECTIVE:
The role of mind-wandering- periods of internally-directed distractibility - among patients with attention-deficit/hyperactivity disorder (ADHD) has recently garnered attention, though few studies have assessed mind-wandering using thought probes during a sustained attention to response task (SART) or examined the possible role of cognitive disengagement syndrome (CDS) symptoms. We examined whether parent- and/or teacher-reported ADHD-inattentive (ADHD-IN) or CDS symptoms were independently associated with probe-caught mind-wandering.
METHODS:
Fifty-four children (ages 9-12; 35.2% female) completed a SART with thought probes inquiring about various on- and off-task thoughts, including mind-wandering and distraction. Questionnaires provided information on demographics, medication treatment, and parent- and teacher-reported ADHD-IN and CDS symptoms. Regression models were estimated separately by informant to examine whether ADHD-IN or CDS symptoms were uniquely associated with mind-wandering or distraction frequency during the SART.
RESULTS:
Higher teacher-reported CDS ratings, but not ADHD-IN ratings, were uniquely associated with more probe-caught mind-wandering. No significant findings related to parent-reported symptoms or probe-caught distraction were observed.
CONCLUSIONS:
These preliminary findings add to an emerging body of work pointing to CDS as more consistently or strongly associated than ADHD-IN with mind-wandering. Theoretical and clinical implications are discussed.
2024-02-12BMC immunology
Dendritic cells under allergic condition enhance the activation of pruritogen-responsive neurons via inducing itch receptors in a co-culture study.
Article
作者: Tichakorn Singto ; Viviane Filor ; Jonathan Vidak ; Robert Klopfleisch ; Wolfgang Bäumer
BACKGROUND:
Itch sensitization has been reported in patients with chronic allergic skin diseases and observed in a mouse model of allergic contact dermatitis (ACD). There is evidence suggesting that neuroimmune interactions may contribute to itch sensitization, as an increase in dendritic cells (DCs) within ganglia has been observed during allergic conditions. However, how DCs interact with sensory neurons in ganglia during allergic conditions is still not known. This study aims to investigate the role of DCs in dorsal root ganglion (DRG) under ACD conditions, specifically focusing on itch sensitization within the DRG. The tolylene-2,4-diisocyanate (TDI) mouse model for ACD and the co-culture model of DCs and DRG neurons was employed in this study.
RESULTS:
We successfully induced ACD by TDI, as evidenced by the development of edema, elevated total serum IgE levels, and an observed itch reaction in TDI-sensitized mice. Calcium imaging and RT-qPCR analysis revealed that TDI-sensitized mice exhibited signs of peripheral sensitization, including a higher percentage of neurons responding to pruritogens and increased activation and expression of itch receptors in excised DRG of TDI-sensitized mice. Immunofluorescence and flow cytometric analysis displayed an increase of MHCII+ cells, which serves as a marker for DCs, within DRG during ACD. The co-culture study revealed that when DRG neurons were cultured with DCs, there was an increase in the number of neurons responsive to pruritogens and activation of itch receptors such as TRPA1, TRPV1, H1R, and TRPV4. In addition, the immunofluorescence and RT-qPCR study confirmed an upregulation of TRPV4.
CONCLUSIONS:
Our findings indicate that there is an increase of MHCII+ cells and itch peripheral sensitization in DRG under TDI-induced ACD condition. It has been found that MHCII+ cells in DRG might contribute to the itch peripheral sensitization by activating itch receptors, as shown through co-culture studies between DRG neurons and DCs. Further studies are required to identify the specific mediator(s) responsible for peripheral sensitization induced by activated DCs.
分析
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