Downs syndrome

  • 文章类型: Journal Article
    超移动性描述了关节超出正常范围的运动。活动过度是否容易导致髌骨不稳定尚待确定。我们的目的是确定关节过度活动是否会导致髌骨不稳定的风险增加,并评估表现出活动过度的患者髌骨不稳定的治疗结果。
    检索已发布和未发布的文献数据库至2023年9月7日。包括比较有和没有过度活动的患者髌骨脱位的患病率/治疗结果差异的研究。
    我们确定了18项符合条件的研究(4,391名患者)。证据质量很低。一项针对82例患者的病例系列发现,广泛性关节松弛与髌骨不稳定之间存在关系。一项研究将104例髌骨脱位患者与110例无髌骨脱位患者进行了比较,证实了这一点。前者普遍关节松弛的患病率高6倍(64.4%vs10.9%,p<0.001)。五项研究发现,旨在纠正特发性活动过度患者髌骨脱位的手术干预可获得令人满意的结果。在两项研究中,关于内侧髌股韧带重建(MPFLR)后,高流动性患者的预后是否比非高流动性患者差的证据相互矛盾。此外,在EhlersDanlos综合征(EDS)患者中,该手术的失败率为19.1%,高流动性与较高的故障率相关(p=0.03)。一项研究表明,使用的移植物类型在结果评分或再脱位率方面没有差异(p>0.5)。另一项研究有7/31(22.6%)的自体移植物失败,与2/16同种异体移植物(12.5%)相比(p=0.69)。
    关节过度活动是髌骨不稳定的危险因素。确定高危人群可能有助于预防脱臼并进行适当的治疗。EDS患者髌骨稳定手术后预后较差,需要术后监测。
    UNASSIGNED: Hypermobility describes the movement of joints beyond normal limits. Whether hypermobility predisposes to patellar instability is yet to be established. We aimed to determine if joint hypermobility leads to an increased risk of patellar instability, and to evaluate outcomes of treatment for patellar instability in those who exhibit hypermobility.
    UNASSIGNED: Published and unpublished literature databases were searched to September 7, 2023. Studies comparing prevalence of patellar dislocation/differences in treatment outcomes in patients with and without hypermobility were included.
    UNASSIGNED: We identified 18 eligible studies (4,391 patients). The evidence was low in quality. A case series on 82 patients found that there was a relationship between generalised joint laxity and patellar instability. This was corroborated by a study comparing 104 patients with patellar dislocation to 110 patients without. Prevalence of generalised joint laxity was six time higher in the former (64.4% vs 10.9%, p < 0.001).Five studies found surgical intervention aimed at correcting patellar dislocation in patients with idiopathic hypermobility led to satisfactory outcomes. There was conflicting evidence regarding if hypermobile patients have worse outcomes than non-hypermobile patients following medial patellofemoral ligament reconstruction (MPFLR) in two studies. In addition, this procedure had a 19.1% failure rate in patients with Ehlers Danlos Syndrome (EDS), with hypermobility associated with a higher failure rate (p = 0.03). One study showed the type of graft used made no difference in outcome scores or re-dislocation rates (p > 0.5). Another study had 7/31 (22.6%) autografts which failed, compared to 2/16 allografts (12.5%) (p = 0.69).
    UNASSIGNED: Joint hypermobility is a risk factor for patellar instability. Identification of at-risk groups may aid prevention of dislocations and allow for appropriate treatment. Patients with EDS experience poor outcomes following patellar stabilization surgery, with post-operative monitoring required.
    导出

    更多引用

    收藏

    翻译标题摘要

    我要上传

       PDF(Pubmed)

  • 文章类型: Journal Article
    背景:一般来说,母亲为患有唐氏综合症的儿童提供了大部分照顾。它们不仅在儿童状况的可接受性方面,而且在为DS儿童提供照料方面都提出了挑战。
    目的:探讨印度尼西亚母亲养育DS儿童的经验,为了更好地了解他们的需求,这是提供治疗所必需的。
    方法:采用内容分析法进行描述性定性研究。研究参与者(15名母亲)是有目的地从国家特殊学校的参与者中抽取的残疾学生。数据是通过半结构访谈收集的,并进行了音频记录。参与者的陈述进行了内容分析,随后应用了诚信原则。
    结果:确定了描述参与者经历的五个主要主题:(1)育儿经历-影响,(2)特殊需要,(3)育儿障碍,(4)育儿促进者,和(5)母亲的期望。
    结论:研究结果表明,母亲们从积极和消极的角度看待她们的处境。尽管这项探索性研究的样本量有限,结果为在特定文化背景下抚养DS儿童提供了新的见解。
    结论:这项研究为家庭和医疗保健提供者提供了重要信息,以提高对该疾病及其适当管理方法的认识。重要的是,探索母亲的经历将使医疗保健专业人员和家庭了解情况。这种理解对于有效管理和提供治疗至关重要。
    BACKGROUND: Generally, mothers provide the majority of caring for children who have Down syndrome. They pose challenges not only with regard to the acceptability of the child situation but also with regard to the provision of care for children with DS.
    OBJECTIVE: To explore the experiences of mothers parenting children with DS in Indonesia, to give a better understanding of their needs, which is necessary for the delivery of treatment.
    METHODS: A descriptive qualitative research with content analysis was used. Study participants (15 mothers) were purposively sampled from attendees of a State Special School for students with disabilities. Data was collected via semi-structure interviews and were audio recorded. Participant\'s statements underwent content analysis, and the principle of trustworthiness was subsequently applied.
    RESULTS: Five main themes describing participants\' experiences were identified: (1) parenting experiences - the impacts, (2) special needs, (3) parenting barriers, (4) parenting facilitators, and (5) mothers\' expectations.
    CONCLUSIONS: The study findings showed that the mothers viewed their situation in both positive and negative ways. Despite the limited sample size in this exploratory study, the results offer new insights into raising a child with DS in a particular cultural setting.
    CONCLUSIONS: This study offers important information to families and healthcare providers to improve awareness of the disorder and its appropriate management methods. It is important that an exploration of the experiences of mothers will provide healthcare professionals and families with an understanding of the situation. This understanding is essential for the effective management and delivery of treatment.
    导出

    更多引用

    收藏

    翻译标题摘要

    我要上传

    求助全文

  • 文章类型: Journal Article
    UNASSIGNED: It was observed that compared to the general population, mentally challenged subjects have higher rates of poor oral hygiene. Gingivitis is a common finding with moderate or severe variety reported most commonly. Periodontal disease is the most significant oral health problem, which can even lead to mobility of tooth and tooth loss. It is essential to generate oral health precautionary agendas and familiarize it with them.
    UNASSIGNED: Four Centres of rehabilitation in the Aseer region of Saudi Arabia were included and subjects of 3-24 year age group was examined. Written informed consent was obtained from directors of Centres. Caries, oral hygiene status, soft-tissue and hard-tissue lesions were evaluated and statistically analyzed.
    UNASSIGNED: Higher Decayed, Missing and Filled Teeth score was observed in the present study in contrast to many other studies. Periodontal disease was seen in higher age group with higher percentages. Poor oral hygiene was seen in 27.3% of males and 66.7% of females. Tongue lesions comprised 85.7%, which accounted for the major part of soft-tissue abnormality. Various occlusal abnormalities (75%) and developmental tooth disturbances (53.6%) constitute the higher portion in hard-tissue abnormality.
    UNASSIGNED: Dentists should be conscious of the range of oral anomalies that can manifest in this group of the patients. The microbial or serological investigation was not done which could have explained the etiology behind these lesions. In spite of these confines, the survey result have provided information regarding the oral health status of Down\'s syndrome subjects and the necessity of focusing on oral health need.
    导出

    更多引用

    收藏

    翻译标题摘要

    我要上传

       PDF(Pubmed)

  • 文章类型: Journal Article
    唐氏综合症(DS)是一种遗传性疾病,由于在肢端中心区域的G组中21号染色体中存在三体性而出现。DS也被称为非孟德尔遗传,由于缺乏孟德尔的法律。儿童疾病是通过临床症状和染色体分析确定的,到目前为止还没有生化和分子分析。目前,全外显子组测序(WES)在鉴定新的致病基因方面做出了很大贡献,代表了人类遗传学领域的重大突破,这项技术使用高通量测序技术来确定指定个体基因组蛋白质编码区的DNA碱基对的排列.除此之外,下一代测序和全基因组测序也有助于识别疾病标记。从这篇评论来看,建议进行WES是DS儿童识别标记区域。
    Down syndrome (DS) is a genetic disorder appeared due to the presence of trisomy in chromosome 21 in the G-group of the acrocentric region. DS is also known as non-Mendelian inheritance, due to the lack of Mendel\'s laws. The disorder in children is identified through clinical symptoms and chromosomal analysis and till now there are no biochemical and molecular analyses. Presently, whole exome sequencing (WES) has largely contributed in identifying the new disease-causing genes and represented a significant breakthrough in the field of human genetics and this technique uses high throughput sequencing technologies to determine the arrangement of DNA base pairs specifying the protein coding regions of an individual\'s genome. Apart from this next generation sequencing and whole genome sequencing also contribute for identifying the disease marker. From this review, the suggestion was to perform the WES is DS children to identify the marker region.
    导出

    更多引用

    收藏

    翻译标题摘要

    我要上传

       PDF(Sci-hub)

       PDF(Pubmed)

  • 文章类型: Case Reports
    唐氏综合征(DS)是由于21号染色体的额外拷贝而发生的。大约3%的唐氏综合征病例是由罗伯逊易位引起的,最常见的是t(14;21),其他类型的易位是该综合征非常罕见的原因。道路交通事故后,一名10岁的智力低下患者入院。病人肌肉松弛,延迟了英里的石头,发育迟缓的年龄,眼睛倾斜,扁平鼻梁,不合格的演讲。在细胞遗传学分析中,患者的核型显示一条正常的21号染色体和一条罗伯逊易位t(21;21)。患者的父母和兄弟姐妹表型正常。罗伯逊易位t(21;21),可以通过从载波父级传输来发生,由于罗伯逊易位的卵巢镶嵌或可能从头出现。在目前的情况下,父母的核型正常,兄弟姐妹的表型正常,罗伯逊易位可能是从头出现的。本病例是唐斯综合征,罗伯逊易位t(21;21)可能从头出现。
    Downs syndrome (DS) occurs due to an extra copy of chromosome 21. About 3% of cases of Downs syndrome occur due to Robertsonian translocation, most commonly t (14; 21), other types of translocations are very rare cause of the syndrome. A 10-year-old patient with mental retardation was admitted following road traffic accident. Patient had flabby muscles, had delayed mile stones, stunted growth for the age, slanting of eyes, flat nasal bridge, and ineligible speech. On cytogenetic analysis the patient had karyotype showing one normal chromosome 21 and one Robertsonian translocation t (21; 21). Parents and siblings of the patient were phenotypically normal. Robertsonian translocation t (21; 21), can occur by transmission from carrier parent, due to ovarian mosaicism for Robertsonian translocation or may appear de novo. In the present case as the parents had normal karyotype and siblings were phenotypically normal, Robertsonian translocation probably have arisen de novo. The present case was a case of Downs syndrome with Robertsonian translocation t (21;21) probably arising de novo.
    导出

    更多引用

    收藏

    翻译标题摘要

    我要上传

       PDF(Pubmed)

  • 文章类型: Case Reports
    先天性白血病是一种罕见但有据可查的疾病,在出生时或此后不久就检测到白血病过程(PhilipMcCoy和RoyOverton,CommunClinCytom22:85-88,1995)。这些白血病约占所有儿童白血病的0.8%。我们介绍了一例先天性急性髓细胞性白血病,从出生的第一天起就表现出来。外周血涂片中存在母细胞,怀疑诊断为急性髓细胞性白血病,并通过流式细胞术在骨髓中得到证实。核型分析显示21三体。
    Congenital leukemia is a rare but a well-documented disease in which leukemic process is detected at birth or very shortly thereafter (Philip McCoy and Roy Overton, Commun Clin Cytom 22:85-88, 1995). These leukemias represent approximately 0.8 % of all childhood leukemias. We present a case of congenital acute myeloid leukemia manifesting from the very first day of birth. Diagnosis of acute myeloid leukemia was suspected by the presence of blasts in the peripheral blood smear and was confirmed on bone marrow by flowcytometry. Karyotyping revealed Trisomy 21.
    导出

    更多引用

    收藏

    翻译标题摘要

    我要上传

       PDF(Sci-hub)

       PDF(Pubmed)

公众号