hemihypertrophy

半肥大
  • 文章类型: Journal Article
    UNASSIGNED: Isolated or congenital hemihypertrophy is a rare disorder characterized by asymmetric overgrowth of one side of the body. This article describes the protocol and preliminary results of a lateral body asymmetry (hemihypertrophy) screening procedure performed in healthy adolescents in a multicenter study. The reported incidence of hemihypertrophy varies between different publications and standardized protocols are needed to improve research in this area.
    UNASSIGNED: Our screening program is taking place in Australia, Israel, Mexico, Ukraine and USA. Procedure includes two steps: (1) \"three measurements - three questions\" screening, or assessment of face, palms, and shins; (2) in-depth assessment of selected cases in order to exclude localized, lesional, and syndrome-related cases as well as body asymmetry within normative range and to select suspected cases of isolated hemihypertrophy. This step includes measurements of various anatomical regions and a detailed questionnaire.
    UNASSIGNED: At this stage, the screening procedure is completed and the selected participants are advised to refer to medical institutions for further clinical and genetic follow up to exclude possible tumors and other accompanying disorders.
    UNASSIGNED: We present an easy-to-use selection tool to identify children with suspected IH, which results in the selection of the risk group that may benefit from referral to a pediatrician and a clinical geneticist.
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  • 文章类型: Journal Article
    目的:报道的孤立性半增生(IH)的发病率范围很广(从1:13,000到1:86,000活产),需要进一步澄清。我们假设对新生儿中IH的出生患病率的调查可能会忽略迟发性病例而低估IH的发生率。
    方法:前瞻性国际多中心研究使用两步选择工具对15-18岁的志愿者进行匿名调查。第一步是“三个测量-三个问题”筛选,或“脸-手掌-小腿调查”。随后的步骤是对选定的病例进行深入评估,以排除局部病例,病变和综合征相关病例以及规范范围内的身体不对称,并选择IH的疑似病例。该步骤包括各种解剖区域的测量和随后的问卷。建议在风险组中选择的参与者参考医疗机构进行临床,遗传和仪器调查。
    结果:在选定的6000名参与者中(男性,M3452,女性,F2548),229(3.82%)被选择进行详细调查,57(0.95%)被分配到风险组。实际上,其中只有36个被转诊到医疗机构,在两个案例中,IH的诊断得到了确认。
    结论:我们的调查显示,青春期IH的患病率约为1:3000。虽然IH是一种遗传性遗传病,它可能不会在新生儿和婴儿中检测到,如果对年龄较大的儿童进行筛查,可以估计该疾病的真实患病率。
    OBJECTIVE: The reported incidence of isolated hemihyperplasia (IH) has a very wide range (from 1:13,000 to 1:86,000 live births) and further clarification is needed. We hypothesized that a survey of the birth prevalence of IH among newborn infants may underestimate the incidence of IH by overlooking late-onset cases.
    METHODS: The prospective international multicenter study utilized the two-steps selection tool for an anonymous survey of volunteers of 15-18 years old. The initial step was \"three measurements-three questions\" screening, or \"face-palms-calves survey\". The subsequent step was an in-depth assessment of selected cases to exclude localized, lesional and syndrome-related cases as well as body asymmetry within normative range and to select suspected cases of IH. This step included measurements of various anatomical regions and a subsequent questionnaire. The participants that were selected in a risk group were advised to refer to medical institutions for clinical, genetic and instrumental investigation.
    RESULTS: Out of 6000 of selected participants (male, M 3452, female, F 2548), 229 (3.82%) were selected for detailed investigation and 57 (0.95%) were assigned to the risk group. Only 36 of them were actually referred to medical institutions and in two cases the diagnosis of IH was confirmed.
    CONCLUSIONS: Our survey indicated the prevalence of IH at the age of adolescence as approximately 1:3000. While IH is a hereditary genetic disorder, it may not be detected in newborns and infants and the true prevalence of the disease can be estimated if older age children are screened.
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