Congenital scoliosis and vertebral malformations: characterization of segmental defects for genetic analysis

The developmental and genetic etiology of most congenital vertebral malformation disorders remains unknown. The objective of this study was to evaluate and classify congenital vertebral defect cases into groupings based on developmental etiology for clinical genetic studies. This classification is intended to be distinct from but complementary to traditional groupings based on spinal curvature or progression. In the first step of this analysis, the authors identified 84 cases of vertebral segmentation disorders by radiologic screening and prospectively recruited 39 of these patients into a clinical genetic study. Next, the authors quantified the extent of contiguous defects and organized cases by craniocaudal localization. Finally, the authors used available clinical association data to identify syndromic and nonsyndromic subcategories, and identified a high rate of orthopaedic and neurologic associations in nonsyndromic patients. This type of analysis has identified subgroups of patients with multiple, contiguous segmental defects and orthopaedic associations that are particularly suitable for further genetic analysis.     

Ganglioglioma in a Sotos syndrome patient with an NSD1 deletion

Sotos syndrome, a disorder with macrocephaly, mental delay, and facial anomalies, has been noted to have an increased risk of neoplasia. Here, we report a patient with a microdeletion in nuclear receptor SET-domain-containing protein (NSD1) and a previously undescribed intracranial ganglioglioma.     

Long-term follow-up of three individuals with Kabuki syndrome

Long-term follow-up of three individuals with Kabuki syndrome indicates their phenotype becomes less striking as adults. It is characterized by short stature, obesity, and relatively large head. Long palpebral fissures persist, as does mild to moderate mental retardation. Independent daily living skills are achieved but a sheltered living environment is needed.     

Cardiac biopsy in childhood

Endomyocardial biopsy was attempted in 18 children aged 5 months to 15 years with 82% success. Biopsies obtained from 15 children were examined by light and electron microscope making positive morphological diagnoses in 3 cases. The biopsy findings were actively helpful in 7 other cases, which contrasts with experience in adult biopsy series. This is a low risk procedure which does not add to the hazards of cardiac catheterization in children.     

Mosaic maternal uniparental disomy of chromosome 15 in Prader–Willi syndrome: Utility of genome‐wide SNP array

Prader–Willi syndrome is caused by the loss of paternal gene expression on 15q11.2–q13.2, and one of the mechanisms resulting in Prader–Willi syndrome phenotype is maternal uniparental disomy of chromosome 15. Various mechanisms including trisomy rescue, monosomy rescue, and post fertilization errors can lead to uniparental disomy, and its mechanism can be inferred from the pattern of uniparental hetero and isodisomy. Detection of a mosaic cell line provides a unique opportunity to understand the mechanism of uniparental disomy; however, mosaic uniparental disomy is a rare finding in patients with Prader–Willi syndrome. We report on two infants with Prader–Willi syndrome caused by mosaic maternal uniparental disomy 15. Patient 1 has mosaic uniparental isodisomy of the entire chromosome 15, and Patient 2 has mosaic uniparental mixed iso/heterodisomy 15. Genome‐wide single‐nucleotide polymorphism array was able to demonstrate the presence of chromosomally normal cell line in the Patient 1 and trisomic cell line in Patient 2, and provide the evidence that post‐fertilization error and trisomy rescue as a mechanism of uniparental disomy in each case, respectively. Given its ability of detecting small percent mosaicism as well as its capability of identifying the loss of heterozygosity of chromosomal regions, genome‐wide single‐nucleotide polymorphism array should be utilized as an adjunct to the standard methylation analysis in the evaluation of Prader–Willi syndrome. © 2012 Wiley Periodicals, Inc.     

青少年和成年人无症状阻生智齿干预措施的疗效评价

目的评价在青少年和成人中拔除与保留无症状阻生智齿的效果.方法计算机检索Cochrane口腔健康组资料库(至2004年8月4日),Cochrane中心临床对照试验资料库(CENTRAL),Ovid-MEDLINE(1966～2004年8月4日),PubMed(1966～2004年8月4日)和EMBASE(1974～2004年8月4日).检索无语种限制.同时对主要相关杂志进行手检,并尽力获取正在进行和未发表的研究.纳入比较预防性拔除与保留阻生智齿效果的全部随机对照或临床对照研究.由3位作者分别独立评价所检出文献的相关性、真实性并提取数据,如有不确定性,联系作者以获取关于随机和失访的更多信息.对所有试验均进行了质量评价.结果共纳入3个研究,其中2个已完成的随机对照试验评价了青少年预防性拔除智齿对切牙拥挤的影响,另1个随机对照试验正在进行,但研究者不能提供任何资料,他们准备近期发表文章,如是,其资料将被纳入本评价的更新中.已完成的2个研究结局判断指标不同,不能进行数据合并.结论没有证据支持或反对常规预防性拔除成年人无症状阻生智齿,有一些可靠的证据表明在青少年预防性拔除阻生智齿既不能减少也不能预防切牙拥挤.