更新于：2024-05-01

Ichthyosis Prematurity Syndrome

鱼鳞病早产综合征

更新于：2024-05-01

基本信息

别名

Congenital ichthyosis type 4、ICHTHYOSIS CONGENITA IV、ICHTHYOSIS PREMATURITY SYNDROME

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简介

A rare syndromic congenital ichthyosis with characteristics of premature birth in addition to thick caseous and desquamating epidermis, neonatal respiratory asphyxia and persistent eosinophilia. After the perinatal period, a spontaneous improvement in the health of affected patients is observed and skin features (vernix caseosa-like scale) evolve into a mild presentation of flat follicular hyperkeratosis with atopy. The disease is caused by mutation in the FATP4 (SLC27A4) gene.

关联

项与鱼鳞病早产综合征相关的临床试验

NCT03434808 / TerminatedN/A

Generation of an Induced Pluripotent Stem (iPS) Cell Bank Immune Matched to a Majority of the US Population

The purpose of this study is to develop a collection of iPS cells called a bank ("Bank") that are immune-matched to a large percentage of the US population by containing the most common HLA haplotypes in the US population.

开始日期2017-01-13

申办/合作机构

Center For International Blood & Marrow Transplant Research

[+1]

NL-OMON27685 / SuspendedN/A

Effectiveness of Cognitive Remediation Training (CRT) embedded in vocational rehabilitation (IPS) for persons with Early PsychosisEffectiviteit van Cognitieve Remediatie Training (CRT) geïntegreerd in arbeidsrehabilitatie (IPS) voor mensen met een vroege psychose.

开始日期2014-12-01

申办/合作机构-

EUCTR2008-005085-30-DE / Not yet recruitingN/A

Einfluss von Rasagilin auf das Riechvermögen von Patienten mit idiopathischem Parkinson-Syndrom(Reversibility of olfactory loss in patients with Idiopathic Parkinson’s disease following treatment with Rasagiline) - Olfaction

开始日期2009-04-06

申办/合作机构

Dresden University of Technology

100 项与鱼鳞病早产综合征相关的临床结果

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100 项与鱼鳞病早产综合征相关的转化医学

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0 项与鱼鳞病早产综合征相关的专利（医药）

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674

项与鱼鳞病早产综合征相关的文献（医药）

2024-02-17·International journal of molecular sciences

Genetic Landscape of Factor VII Deficiency: Insights from a Comprehensive Analysis of Pathogenic Variants and Their Impact on Coagulation Activity.

Article

作者: Barbara Preisler ; Behnaz Pezeshkpoor ; Anja Merzenich ; Sandra Ohlenforst ; Heiko Rühl ; Vytautas Ivaškevičius ; Ute Scholz ; Hagen Bönigk ; Wolfgang Eberl ; Barbara Zieger ; Anna Pavlova ; Johannes Oldenburg

Congenital factor VII (FVII) deficiency is a rare genetic bleeding disorder characterized by deficient or reduced activity of coagulation FVII. It is caused by genetic variants in the F7 gene. We aimed to evaluate the rate of detection of pathogenic variants in the F7 gene in a large group of patients with FVII deficiency and investigate the correlations between the F7 genotype and FVII activity (FVII:C). Moreover, the influence of the common genetic variant rs6046: c.1238G>A; p.(Arg413Gln), designated as the M2 allele, on FVII:C was investigated. Genetic analysis of the F7 gene was performed on 704 index patients (IPs) using either direct Sanger- or next-generation sequencing. Genetic variants were detected in 390 IPs, yielding a variant detection rate (VDR) of 55%. Notably, the VDR exhibited a linear decline with increasing FVII:C levels. We identified 124 genetic variants, of which 48 were not previously reported. Overall, the frequency of the M2 allele was considerably higher in patients with mild deficiency (FVII:C > 20 IU/dl). Furthermore, IPs lacking an identified pathogenic variant exhibited a significantly higher prevalence of the M2 allele (69%) compared to IPs with a disease-causing variant (47%). These results strongly support the association of the M2 allele with decreased FVII:C levels. This study shows the utility of FVII:C as a predictive marker for identifying pathogenic variants in patients with FVII deficiency. The M2 allele contributes to the reduction of FVII:C levels, particularly in cases of mild deficiency.

2024-02-13·Development and psychopathology

Are prosocial tendencies relevant for developmental psychopathology? The relations of prosocial behavior and empathy-related responding to externalizing problems, internalizing problems, and autism spectrum disorder.

Article

作者: Nancy Eisenberg ; Antonio Zuffianò ; Tracy L Spinrad

The field of developmental psychopathology tends to focus on the negative aspects of functioning. However, prosocial behavior and empathy-related responding - positive aspects of functioning- might relate to some aspects of psychopathology in meaningful ways. In this article, we review research on the relations of three types of developmental psychopathology- externalizing problems (EPs), internalizing problems (IPs), and Autism Spectrum Disorder (ASD) - to empathy-related responding (e.g., affective and cognitive empathy, sympathy, personal distress) and prosocial behavior. Empathy-related responding and prosocial behavior generally have been inversely related to EPs, although findings are sometimes reversed for young children and, for empathy, weak for reactive aggression. Some research indicates that children's empathy (often measured as emotional contagion) and personal distress are positively related to IPs, suggesting that strong sensitivity to others' emotions is harmful to some children. In contrast, prosocial behaviors are more consistently negatively related to IPs, although findings likely vary depending on the motivation for prosocial behavior and the recipient. Children with ASD are capable of prosocially and empathy-related responding, although parents report somewhat lower levels of these characteristics for ASD children compared to neurotypical peers. Issues in regard to measurement, motivation for prosociality, causal relations, and moderating and mediating factors are discussed.

2024-02-01·EClinicalMedicine

Superiority and cost-effectiveness of Individual Placement and Support versus standard employment support for people with alcohol and drug dependence: a pragmatic, parallel-group, open-label, multicentre, randomised, controlled, phase 3 trial.

Article

作者: John Marsden ; Paul Anders ; Claire Shaw ; Chioma Amasiatu ; Winnie Collate ; Brian Eastwood ; Patrick Horgan ; Meetal Khetani ; Jonathan Knight ; Sandy Knight ; Alexandra Melaugh ; Helen Clark ; Jez Stannard

Background:

Individual Placement and Support (IPS) is a specialist intervention to help people attain employment in the open competitive labour market. IPS has been developed in severe mental illness and other disabilities, but it is of unknown effectiveness for people with alcohol and drug dependence. The Individual Placement and Support-Alcohol and Drug (IPS-AD) is the first superiority trial to evaluate effectiveness and cost-effectiveness.

Methods:

IPS-AD was a pragmatic, parallel-group, multi-centre, randomised, controlled, phase 3 trial of standard employment support (treatment-as-usual [TAU]) versus IPS. IPS was offered as a single episode for up to 13 months. The study was done at seven community treatment centres for alcohol and drug dependence in England. Study participants were adults (18-65 years), who had been enrolled for at least 14 days in treatment for alcohol use disorder (AUD), opioid use disorder (OUD), or another drug use disorder (DUD; mostly cannabis and stimulants); were unemployed or economically inactive for at least six months; and wished to attain employment in the open competitive labour market. After random allocation to study interventions, the primary outcome was employment during 18-months of follow-up, analysed by mixed-effects logistic regression, using multiple imputation for the management of missing outcome data. There were two cost-effectiveness outcomes: a health outcome expressed as a quality adjusted life year (QALY) using £30,000 and £70,000 willingness-to-pay [WTP] thresholds; and additional days of employment, with a WTP threshold of £200 per day worked. The study was registered with ISRCTN (ISRCTN24159790) and is completed.

Findings:

Between 8 May 2018 and 30 September 2019, 2781 potentially eligible patients were identified. 812 were excluded before screening, and 1720 participants were randomly allocated to TAU or IPS. In error, nine participants were randomised to study interventions on two occasions-so data for their first randomisation was analysed (modified intention-to-treat). A further 24 participants withdrew consent for all data to be used (full-analysis set therefore 1687 participants [70.1% male; mean age 40.8 years]; TAU, n = 844; IPS, n = 843 [AUD, n = 610; OUD, n = 837; DUD, n = 240]). Standard employment support was received by 559 [66.2%] of 844 participants in the TAU group. IPS was received by 804 [95.37%] of 843 participants in the IPS group. IPS was associated with an increase in attainment of employment compared with TAU (adjusted odds ratio [OR] 1.29; 95% CI 1.02-1.64; p-value 0.036). IPS was effective for the AUD and DUD groups (OR 1.48; 95% CI 1.14-1.92; p-value 0.004; OR 1.45, 95% CI 1.03-2.04, p-value 0.031, respectively), but not the OUD group. IPS returned an incremental QALY outcome gain of 0.01 (range 0.003-0.02) per participant with no evidence of cost-effectiveness at either WTP threshold-but QALY gains were cost-effective for the AUD and DUD groups at the £70,000 WTP threshold (probability 0.52 and 0.97, respectively). IPS was cost-effective for additional days of employment (probability 0.61), with effectiveness relating to the AUD group only (probability >0.99). Serious Adverse Events were reported by 39 participants (13 [1.5%] of 844 participants in the TAU group and 23 [2.7%] of 43 participants in the IPS group). There was a total of 25 deaths (1.5%; 9 in the TAU group and 16 in the IPS group)-none judged related to study interventions.

Interpretation:

In this first superiority randomised controlled trial of IPS in alcohol and drug dependence, IPS helped more people attain employment in the open competitive labour market than standard employment support. IPS was cost-effective for a QALY health outcome (£70,000 WTP threshold) for the AUD and DUD groups, and for additional days of employment for the AUD group (£200 per day worked WTP threshold).

Funding:

UK government Work and Health Unit.

项与鱼鳞病早产综合征相关的新闻（医药）

2024-04-03

·Science Daily

Exploring the effect of the presence of familiar people in interpersonal space

Researchers investigate the influence of social relationships on our bodily responses to the presence of other persons in the interpersonal space. Most studies on interpersonal space (IPS) focus on the physiological and psychological responses to the presence of strangers in IPS. However, having a social relation with a person or their relative position in the IPS can influence these responses. Recently, researchers investigated the responses to the presence of friends and acquaintances at different relative positions in IPS, measuring the changes in discomfort, heart rate, and parasympathetic activity. Overall, this study enhances our understanding of IPS. When we communicate with other people face-to-face, we do so by maintaining a certain physical distance from each other. This space surrounding our body while interacting is called the interpersonal space (IPS), and maintaining adequate IPS is crucial for better communication. Many studies have investigated the psychological and physiological changes that occur based on the presence of another person in the IPS during face-to-face interactions. These studies are based on the avoidance behaviour that we experience when a stranger invades our IPS, which manifests in the form of increased heart rate and discomfort. However, having a social relation with a person, such as with a friend or a spouse, can influence this behaviour. Moreover, most studies have only examined IPS in front of or behind a person, using tasks such as a stopping task, wherein a stranger approaches or retreats from the IPS. They have not determined the shape of IPS by considering different relative positions around a person. Addressing this gap, a team of researchers from Japan, led by Assistant Professor Kae Mukai from the Faculty of Science and Engineering at Waseda University, investigated the effect of social relationships on the physiological and psychological responses to the presence of another person in the IPS. Dr. Mukai explains, "Considering a real-life situation in which acquaintances or friends are standing next to us, the threat level might be relatively low compared to when strangers are standing next to us. Given the evidence, that smaller IPSs may be formed with family and friends, psychological and physiological responses can differ. In this study, we uncovered these differences." The team also included Dr. Tomoko Isomura from Nagoya University and Dr. Ryoji Onagawa and Professor Katsumi Watanabe from Waseda University. Their findings were published in the journal Scientific Reports on February 21, 2024. The researchers used electrocardiogram (ECG) data to measure the changes in subjective discomfort, heart rate, and heart rate variability (HRV), which indicates parasympathetic activity or the "rest and digest" nervous response, of a person due to the presence of another person at various relative positions in the IPS. They measured these changes during two tasks. In the first task, participants were paired with their friends in a static standing task, where a person stood 30 cm away from the other, with both hands behind their back, within the IPS for a minute. There were eight relative positions in all: F-see, L-see, R-see, and B-see, as well as F-seen, L-seen, R-seen, and baseline. In the first case, participants stood face-to-face with their friend and looked at the center of their eyes. In the next three cases, they looked at their friend's left profile, right profile, and back, respectively, with their eyes fixed on the head. On the other hand, the participants stood with their eyes fixed on the fixation point 30 cm in front of them while being seen at their left pro right pro and backs by their friend in F-seen, L-seen, and R-seen conditions, respectively. Lastly, in the baseline condition, both persons were standing back-to-back, unable to see each other. In the second task, a cylindrical object with height same as that of the person was placed at different positions in the IPS. The experiments revealed that the greatest discomfort, the greatest decrease in heart rate, and the greatest increase in HRV occurred in the F-see condition. The researchers attributed the decrease in heart rate and increase in parasympathetic activity to the presence of familiar people, as previous studies have shown that the presence of a friend or romantic partner activates parasympathetic activity. Moreover, they found that heart rate only decreased in relative positions F-see and R-see. Additionally, no changes were observed during the task with the object. These findings are inconsistent with previous studies which report that sympathetic activity, or the "fight or flight" response, is activated when a stranger invades our personal space. "Our study suggests that social relationships between two people influence our physiological responses during social interactions," says Dr. Mukai. "Our findings could help in the development of a society that makes life easier for a diverse range of people, by introducing appropriate communication methods that vary according to changes in responses to the presence of others."

2024-02-21

·同写意

战略合作：士泽生物与国家干细胞转化资源库正式达成战略合作，共同推进免疫豁免iPS细胞系的科学研究与成果转化丨会员动态

细胞疗法免疫疗法

2024-02-21

·BioBAY

企业资讯丨士泽生物：与国家干细胞转化资源库正式达成战略合作，共同推进免疫豁免iPS细胞系的科学研究与成果转化

近日，BioBAY园内企业士泽生物与国家干细胞转化资源库达成战略合作协议，共同推进新一代免疫豁免的iPS细胞系的科学研究、对外授权开发与成果转化。士泽生物专注于开发临床级iPS衍生细胞药治疗以帕金森病为代表的重大或危重神经系统疾病。基于士泽生物已经建立的全流程的临床级iPS衍生细胞药开发平台及基因编辑iPS细胞系等先进技术平台，士泽生物已经建立了具有自主知识产权免疫豁免的iPS细胞系及其配套技术平台，布局了中国及全球的士泽生物免疫豁免iPS细胞系专利保护体系，已建设完成的新一代免疫豁免iPS细胞系可对外授权且全球可商用。士泽生物已经自主运营的＞5000平方米的研发中心、B+A级GMP基地及质控中心可满足和实现多种基因编辑的具有免疫豁免性的新一代临床级iPS细胞建系及其衍生细胞产品的规模化生产。国家干细胞转化资源库围绕国家重大发展战略和干细胞领域重大科技创新需求，开展我国重要干细胞资源的建设工作，建设我国生物医药领域创新发展的重大科学基础设施，形成平台优势与我国特有干细胞库资源，是我国具备干细胞资源与技术等方面核心竞争力的国际领先的资源库（相关阅读：国家干细胞转化资源库助力我国干细胞转化应用高质量发展）。关于士泽生物士泽生物由创始人李翔博士全职归国创立，士泽生物长期专注于开发临床级iPS衍生细胞药治疗帕金森病等尚无实质临床解决方案的神经系统疾病：士泽生物组建了具有国际竞争力及产业界背景的全职团队，士泽生物核心团队成员来自海内外著名高校或细胞治疗业界知名公司，团队拥有国际及产业界最前沿的干细胞治疗技术和转化经验。士泽生物已运营>5000平方米的研发中心、B+A级GMP基地及质控中心，iPS衍生细胞药的主要研发管线已完成核心CMC开发、建立了全流程的临床级制备工艺及质量控制体系，并完成多种临床级iPS衍生亚型特化神经前体细胞治疗产品的正式注册批及临床批生产。士泽生物临床级iPS衍生多巴胺神经前体细胞治疗帕金森病的首发管线：2023年，士泽生物已获国家卫生健康委员会与国家药品监督管理局（简称两委）正式批准开展临床研究，是我国首个经国家两委局正式批准的iPS衍生细胞治疗帕金森病的国家级临床研究，也是我国迄今为止唯一一个正式获批的iPS衍生细胞治疗神经系统疾病的国家级干细胞备案临床研究项目（相关阅读：【国内首个】士泽生物iPSC衍生细胞治疗帕金森病获批国家临床级备案临床研究）。士泽生物已完成的中国首例临床级iPS衍生细胞药移植治疗帕金森病，为全中国首例、全世界第二例个性化自体iPS衍生细胞替代性移植治疗帕金森病（相关阅读：【中国首例】士泽生物成功实施临床级iPS衍生细胞移植治疗帕金森病首例给药）士泽生物从数百家医药企业中脱颖而出，正式入选成为Roche Accelerator在中国的十五家合作成员企业之一。士泽生物正在罗氏体系提供的全球专业顾问团队及配套科学资源的合作支持下，加速推动士泽生物 iPS 衍生细胞治疗帕金森病新药管线的研发和产业化，并入选国家生物药技术创新中心细胞疗法“重点攻关项目”（相关阅读：罗氏集团全球董事会到华庆祝加速器落成：士泽生物正式入驻；【喜报】士泽生物帕金森病细胞疗法入选国家生物药技术创新中心“重点攻关项目”；【官宣】士泽生物正式入选罗氏中国加速器，加速推动全球iPS衍生细胞药治疗重大神经系统疾病的研发和产业化）。士泽生物建立了一批具有自主知识产权、国际领先的新技术、新平台，能够为可持续输出自研创新管线提供关键保障：2023年，士泽生物自研的全球首发研发管线临床级iPS衍生亚型神经前体细胞治疗渐冻症，获得美国FDA认证授予孤儿药资格并享有获批上市后7年市场独占权等，为中国首个自研和国产iPS衍生细胞药获得FDA认证并授予全球孤儿药资格。（相关阅读：【全球首发】士泽生物国产iPS衍生细胞药获FDA认证授予孤儿药资格！）基于士泽生物已开发的针对渐冻症的全球首发iPS衍生细胞孤儿药，士泽生物首先与国内头部医院合作并且已正式启动针对散发型渐冻症患者的临床研究、及针对特定突变型的基因修正自体iPS衍生细胞治疗渐冻症的前沿临床研究，均为全球首发及首个临床研究（FIC）（相关阅读：【全球首发招募】士泽生物临床级iPSC衍生细胞治疗渐冻症临床研究启动会正式召开及启动招募）。士泽生物建立了具有自主知识产权的、全球领先的新一代免疫豁免iPS细胞系及其配套领先技术平台：已建设完成的新一代免疫豁免iPS细胞系可对外授权且全球可商用，并与国家级干细胞资源库达成战略合作，共同推进我国新一代创新性iPS细胞系的授权开发与成果转化。自李翔博士全职创立士泽生物以来，已完成由峰瑞资本、启明创投、礼来亚洲基金、红杉中国等著名风险投资机构领投的多轮数亿元融资。2022至2023年，在新冠及医药领域整体寒冬的大环境下，李翔博士带领士泽生物完成了由启明创投、礼来亚洲基金、金圆展鸿、中新资本共同领投，元禾控股、北京大学科技成果转化基金、钧山资本、阿里健康和华泰紫金等新股东联合投资的逾两亿元A轮融资及A+轮追加融资。▌文章来源：士泽生物责编：何文正审核：任旭推荐阅读企业资讯丨吉美瑞生与钟南山院士等合作发表肺前体细胞治疗慢阻肺临床研究成果企业资讯丨维伟思医疗与蓝帆医疗、悟空智联三方战略合作升级，全面立体化布局急救领域企业资讯丨开创中国AAV基因治疗商业化运储先河！纽福斯成功完成纽惟佳®冬季运输验证

细胞疗法免疫疗法