Talipes equinovarus

马蹄足
  • 文章类型: Journal Article
    背景:马蹄内翻足是最常见的先天性畸形之一,但这也是五岁以下儿童最被忽视的公共卫生问题之一,主要在中低收入国家。大约80%的马蹄内翻足病例发生在低收入和中等收入国家。在这个研究环境中,尚未进行流行病学研究来评估马蹄内翻足畸形。由于这个差距,这项研究旨在评估患病率,以及5岁以下儿童的先天性球杆足模式。
    方法:在小儿骨科诊所的黑狮专科医院进行了一项基于机构的横断面研究。样本量为261,以确定先天性马蹄内翻足的患病率和模式。像频率这样的术语,百分比,和平均值用于数据表示。
    结果:在研究期间,共有36,303名儿科患者到黑狮专科医院就诊,马蹄内翻足患病率为7.2/1000.先天性马蹄内翻足最大的亚类是特发性马蹄内翻足,占6.2/1000,而综合征性马蹄内翻足为0.3/1000,神经性马蹄内翻足为0.36/1000。这项研究中的大多数病例是双侧马蹄内翻足,男性有更多的优势。
    结论:在调查区域,观察到先天性马蹄内翻足的患病率很高,尤其是男性儿童。大多数病例是双边的,特发性马蹄内翻足是主要形式。
    BACKGROUND: Clubfoot is one of the most common congenital malformations, but it is also one of the most neglected public health problems among less than five-year-old children, mainly in middle- and low-income countries. Approximately 80% of clubfoot cases are found in low- and middle-income countries. In this study setting, no epidemiological studies have been conducted to assess clubfoot deformity. Due to this gap, the study aimed to assess prevalence, and pattern of congenital club foot among less than 5-year-old children.
    METHODS: An institutional-based cross-sectional study was carried out at Black Lion Specialized Hospital at the pediatric orthopedic clinic. The sample size was 261 to determine the prevalence and pattern of congenital clubfoot. Terms like frequency, percentage, and mean were used for data presentation.
    RESULTS: A total of 36,303 pediatric patients visited Black Lion Specialized Hospital during the study period, and clubfoot prevalence was 7.2 per 1000. The largest subclassification of congenital clubfoot was idiopathic clubfoot, which accounted for 6.2 per 1000, whereas syndromic clubfoot was 0.3 per 1000, and neuropathic clubfoot was shared at 0.36 per 1000. Most of the cases in this study were bilateral clubfoot, with males having more dominance.
    CONCLUSIONS: In the area under investigation, a significant prevalence of congenital clubfoot was observed, especially among male children. The majority of cases were bilateral, with idiopathic clubfoot being the dominant form.
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  • 文章类型: Journal Article
    背景:大脚怪,或者先天性马蹄内翻足,是全世界公认的残疾和先天性畸形的原因,这显著影响了生活质量。马蹄内翻足的有效管理需要长期,多学科干预。重要的是要了解这种情况有多普遍,以便评估其对人口的影响。不幸的是,很少有研究调查沙特阿拉伯马蹄足的患病率。
    目的:通过法赫德国王大学医院(KFUH)的患者人群确定沙特阿拉伯马蹄足的患病率。
    方法:这是一项在美国最大的医院之一进行的回顾性研究,该医院位于人口最稠密的行政区之一。
    结果:在分析中包括的2015年至2023年之间的7792名新生儿中,42例患者被诊断为马蹄内翻足,导致KFUH每1000例活产中5.3例的患病率。
    结论:观察到的马蹄内翻足的患病率明显高于全球和当地的估计值,这表明研究人群的负担很大。
    BACKGROUND: Clubfoot, or congenital talipes equinovarus, is a widely recognized cause of disability and congenital deformity worldwide, which significantly impacts the quality of life. Effective management of clubfoot requires long-term, multidisciplinary intervention. It is important to understand how common this condition is in order to assess its impact on the population. Unfortunately, few studies have investigated the prevalence of clubfoot in Saudi Arabia.
    OBJECTIVE: To determine the prevalence of clubfoot in Saudi Arabia via the patient population at King Fahad University Hospital (KFUH).
    METHODS: This was a retrospective study conducted at one of the largest hospitals in the country and located in one of the most densely populated of the administrative regions.
    RESULTS: Of the 7792 births between 2015 to 2023 that were included in the analysis, 42 patients were diagnosed with clubfoot, resulting in a prevalence of 5.3 per 1000 live births at KFUH.
    CONCLUSIONS: The observed prevalence of clubfoot was significantly higher than both global and local estimates, indicating a substantial burden in the study population.
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  • 文章类型: Journal Article
    背景:先天性马蹄内翻足(马蹄内翻足)是一种常见的肌肉骨骼异常,怀疑是多因素病因。在这里,我们使用公开可用的数据来确定1994-2021年期间在丹麦分娩的马蹄内翻足的活出生婴儿,并对同时发生的先天性异常进行分类。估计年度患病率,并将马蹄内翻足的发生率与产妇吸烟率进行比较,一个常见的风险因素。在全国范围内,liveborn队列为病因调查和生命过程监测提供了基于人群的资源。
    方法:本病例队列研究使用了来自丹麦国家患者登记和丹麦民事登记系统的数据,通过公开的丹麦生物银行登记册访问,确定1994年至2021年期间在丹麦交付给丹麦父母的1,315,282名活体婴儿。其中,2,358名婴儿(65.1%为男性)被确定为马蹄内翻足,并被归类为综合征(同时发生的染色体,遗传,或致畸综合征)和非综合征(孤立或共同发生的多种先天性异常[MCA])。非综合征性马蹄内翻足儿童的年患病率估计值和相应的95%置信区间(CIs)使用泊松回归进行估计,并与基于人群的,从公开资源中获得的产妇年吸烟率。
    结果:婴儿最常表现为非综合征性马蹄内翻足(孤立=88.6%;MCA=11.4%);肢体和心脏异常是最常见的MCA。患病率(每1,000名活体出生婴儿)为分离的1.52(CI1.45-1.58),MCA马蹄畸形为0.19(CI0.17-0.22)。在研究期间,孤立和MCA马蹄足的患病率估计保持相对稳定,尽管以人口为基础的产妇吸烟率显著下降。
    结论:从1994年到2021年,丹麦非综合征性马蹄内翻足的患病率相对稳定。人口水平的产妇吸烟率的降低似乎并没有影响患病率估计,为这种异常的可疑多因素病因提供了一些支持。这个全国范围内,活生生的队列,使用丹麦生物库注册的公开数据确定和临床特征,为未来的病因调查和生命过程监测提供基于人群的临床和生物资源。
    BACKGROUND: Congenital talipes equinovarus (clubfoot) is a common musculoskeletal anomaly, with a suspected multifactorial etiopathogenesis. Herein, we used publicly available data to ascertain liveborn infants with clubfoot delivered in Denmark during 1994-2021, and to classify co-occurring congenital anomalies, estimate annual prevalence, and compare clubfoot occurrence with maternal smoking rates, a commonly reported risk factor. Characterizing this nationwide, liveborn cohort provides a population-based resource for etiopathogenic investigations and life course surveillance.
    METHODS: This case-cohort study used data from the Danish National Patient Register and Danish Civil Registration System, accessed through the publicly available Danish Biobank Register, to identify 1,315,282 liveborn infants delivered during 1994-2021 in Denmark to Danish parents. Among these, 2,358 infants (65.1% male) were ascertained with clubfoot and classified as syndromic (co-occurring chromosomal, genetic, or teratogenic syndromes) and nonsyndromic (isolated or co-occurring multiple congenital anomalies [MCA]). Annual prevalence estimates and corresponding 95% confidence intervals (CIs) for children with nonsyndromic clubfoot were estimated using Poisson regression and compared with population-based, maternal annual smoking rates obtained from publicly available resources.
    RESULTS: Infants most often presented with nonsyndromic clubfoot (isolated = 88.6%; MCA = 11.4%); limb and heart anomalies were the most frequently identified MCAs. Prevalence (per 1,000 liveborn infants) was 1.52 (CI 1.45-1.58) for isolated and 0.19 (CI 0.17-0.22) for MCA clubfoot. Prevalence estimates for both isolated and MCA clubfoot remained relatively stable during the study period, despite marked decreases in population-based maternal smoking rates.
    CONCLUSIONS: From 1994 to 2021, prevalence of nonsyndromic clubfoot in Denmark was relatively stable. Reduction in population-level maternal smoking rates did not seem to impact prevalence estimates, providing some support for the suspected multifactorial etiopathogenesis of this anomaly. This nationwide, liveborn cohort, ascertained and clinically characterized using publicly available data from the Danish Biobank Register, provides a population-based clinical and biological resource for future etiopathogenic investigations and life course surveillance.
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  • 文章类型: Journal Article
    UNASSIGNED: Clubfoot is among the most common musculoskeletal congenital anomalies. Poor understanding of clubfoot can cause lack of awareness that leads to complications in treating this condition because of late medical intervention. This is considered as a significant public health problem, especially in communities where the burden of clubfoot deformity remains unrecognized. We assessed the level of awareness and knowledge on clubfoot among residents of rural areas and determined the knowledge and attitudes of the public toward the risk factors and general consequences of clubfoot.
    UNASSIGNED: This cross-sectional study, conducted from January to July 2021, included the general population of small city and rural area residents. The participants completed a self-administered survey on the web. The questionnaire was pre-tested in a pilot study to ensure comprehension and ease of administration.
    UNASSIGNED: Altogether, 41.6% of the participants recognized the scientific name of clubfoot in their native language, whereas 38.9% identified the disorder after they were shown a photograph of it. The most recognized risk factors of clubfoot according to the participants were family history (52.2%), complicated pregnancy (46.5%), and medications (43.4%). Only 8.8% of the participants considered casting the initial treatment of clubfoot.
    UNASSIGNED: An individual\'s residential area plays a role in their level of awareness concerning clubfoot. Our results suggest that many educational interventions for clubfoot must be provided in rural areas, particularly regarding therapeutic options and plans of care.
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  • 文章类型: Journal Article
    与常规核型分析相比,通过染色体微阵列分析(CMA)对马蹄内翻足(TE)的产前诊断的检出率研究很少。我们旨在探讨胎儿TE的分子病因,并检查CMA的检出率。这为TE的临床筛查和遗传咨询提供了更多信息。
    在这项回顾性研究中,纳入诊断为胎儿TE的妊娠,并从我们的病历数据库中检索所有病例的临床数据,包括怀孕的人口统计数据,超声检查结果,核型/CMA结果,以及妊娠和围产期结局。
    在164名患者中,通过CMA检测到17个(10.4%)临床显著变异。在148例单胎怀孕中,非孤立性TE组的临床显着变异的诊断率明显高于孤立性TE组(10/37,27.0%vs.6/111,5.4%,P<0.001)。在双胞胎怀孕中,在其他16个双胎妊娠中存在1个(6.3%)致病性拷贝数变异。
    这项研究表明,CMA可用于胎儿TE的产前遗传诊断。具有相关结构畸形的胎儿TE与临床显著变异的较高概率相关。这些数据可能有助于胎儿TE的产前诊断和遗传咨询。
    Background: There are few studies on the detection rate by chromosomal microarray analysis (CMA) of the prenatal diagnosis of talipes equinovarus (TE) compared to conventional karyotyping. We aimed to explore the molecular etiology of fetal TE and examine the detection rate by CMA, which provides more information for the clinical screening and genetic counseling of TE. Methods: In this retrospective study, pregnancies diagnosed with fetal TE were enrolled and clinical data for all cases were retrieved from our medical record database, including demographic data for pregnancies, ultrasound findings, karyotype/CMA results, and pregnant and perinatal outcomes. Results: Among the 164 patients, 17 (10.4%) clinically significant variants were detected by CMA. In 148 singleton pregnancies, the diagnostic rate of clinically significant variants was significantly higher in the non-isolated TE group than in the isolated TE group (10/37, 27.0% vs. 6/111, 5.4%, P < 0.001). In twin pregnancies, 1 (6.3%) pathogenic copy number variant was present in the other 16 twin pregnancies. Conclusions: This study demonstrates that CMA is useful for the prenatal genetic diagnosis of fetal TE. Fetal TE with the associated structural malformation correlates with a higher probability of clinically significant variants. This data may aid prenatal diagnosis and genetic counseling for fetal TE.
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  • 文章类型: Journal Article
    我们的目的是将我们基于父母的锻炼计划的功效与作为保留计划的足部外展支架(FAB)Ponseti操作进行比较。
    我们在2009年8月至2019年11月之间进行了这项前瞻性多中心队列研究。根据保留方案,将纳入的儿童分为两组之一。Pirani和Laaveg-Ponseti评分用于临床和功能评估脚。放射学评估是使用站立的脚的前后和外侧X光片进行的。我们评估了父母对保留方法的满意度和依从性。采用SPSS25版进行统计分析。
    共包括973名儿童中的1265英尺。A组包括由FAB管理的637英尺,而B组包括628英尺,通过我们的保留计划进行管理。所有患者均随访至4岁。在最后的后续行动中,A组参与者的皮拉尼得分很好,在515、90和32英尺的地方有好的和差的,尊敬的,而B组成绩优异,471、110和44英尺的好和差,分别。A组Laaveg-Ponseti的平均总分为87.81(sd19.82),B组为90.55(sd20.71)(p=0.02)。B组参与者对治疗方法的满意度更高(p=0.011),对治疗的依从性更高(p=0.013)。
    在Ponseti方法中,与支具不顺应性相关的畸形复发可能会通过用我们基于家庭的日常伸展运动代替支具来减少。
    II.
    UNASSIGNED: We aimed to compare our parent-based exercise programem\'s efficacy with the foot abduction brace (FAB) Ponseti manipulation as a retention programme.
    UNASSIGNED: We conducted this prospective multicentre cohort study between August 2009 and November 2019. The included children were allocated into one of two groups according to the retention protocol. The Pirani and Laaveg-Ponseti scores were used to assess the feet clinically and functionally. Radiological assessment was performed using standing anteroposterior and lateral radiographs of the feet. We assessed the parents\' satisfaction and adherence to the retention method. SPSS version 25 was used for the statistical analysis.
    UNASSIGNED: A total of 1265 feet in 973 children were included. Group A included 637 feet managed with FAB, while group B included 628 feet managed with our retention programme. All patients were followed up to the age of four years. At the final follow-up, Pirani scores in group A participants were excellent, good and poor in 515, 90, and 32 feet, respectivel, while in group B the scores were excellent, good and poor in 471, 110 and 44 feet, respectively. The mean total score of Laaveg-Ponseti was 87.81 (sd 19.82) in group A and 90.55 (sd 20.71) in group B (p = 0.02). Group B participants showed higher satisfaction with the treatment method (p = 0.011) and more adherence to the treatment (p = 0.013).
    UNASSIGNED: The deformity\'s recurrence related to the brace\'s non-compliance in the Ponseti method might be reduced by substituting the brace with our home-based daily stretching exercises.
    UNASSIGNED: II.
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