RESUMO
BACKGROUND: Cornelia de Lange syndrome (CdLS) is a multisystem congenital anomaly disorder. Heterozygous point mutations in three genes (NIPBL, SMC3 and SMC1A), encoding components of the sister chromatid cohesion apparatus, are responsible for approximately 50-60% of CdLS cases. Recent studies have revealed a high degree of genomic rearrangements (for example, deletions and duplications) in the human genome, which result in gene copy number variations (CNVs). CNVs have been associated with a wide range of both Mendelian and complex traits including disease phenotypes such as Charcot-Marie-Tooth type 1A, Pelizaeus-Merzbacher, Parkinson, Alzheimer, autism and schizophrenia. Increased versus decreased copy number of the same gene can potentially cause either similar or different clinical features. METHODS AND RESULTS: This study identified duplications on chromosomes 5 or X using genome wide array comparative genomic hybridisation (aCGH). The duplicated regions contain either the NIPBL or the SMC1A genes. Junction sequences analyses revealed the involvement of three genomic rearrangement mechanisms. The patients share some common features including mental retardation, developmental delay, sleep abnormalities, and craniofacial and limb defects. The systems affected are the same as in CdLS, but clinical manifestations are distinct from CdLS; particularly the absence of the CdLS facial gestalt. CONCLUSIONS: The results confirm the notion that duplication CNV of genes can be a common mechanism for human genetic diseases. Defining the clinical consequences for a specific gene dosage alteration represents a new "reverse genomics" trend in medical genetics that is reciprocal to the traditional approach of delineation of the common clinical phenotype preceding the discovery of the genetic aetiology.
Assuntos
Proteínas de Ciclo Celular/genética , Proteínas Cromossômicas não Histona/genética , Síndrome de Cornélia de Lange/genética , Dosagem de Genes , Duplicação Gênica , Proteínas/genética , Adolescente , Adulto , Sequência de Bases , Criança , Pré-Escolar , Proteoglicanas de Sulfatos de Condroitina/genética , Hibridização Genômica Comparativa , Feminino , Humanos , Lactente , Masculino , Dados de Sequência Molecular , Fenótipo , Alinhamento de Sequência , Troca de Cromátide IrmãRESUMO
An arteroarterial femoral graft using expanded polytetrafluoroethylene is described which has been successfully for vascular access in young children having small peripheral vessels. This graft allows high flow and favorable patency for dialysis without the complications of arteriovenous shunting or the risks associated with an external hemodialysis device. This graft has been used successfully for outpatient dialysis in children weighing as little as 9 kg and may be a useful adjunct in long-term dialysis of patients for whom more conventional means of vascular access are not acceptable.
Assuntos
Prótese Vascular , Artéria Femoral/cirurgia , Artéria Poplítea/cirurgia , Diálise Renal/métodos , Peso Corporal , Criança , Pré-Escolar , Crescimento , Humanos , Lactente , Politetrafluoretileno , Diálise Renal/efeitos adversosAssuntos
Doenças da Gengiva , Doenças da Boca , Estomatite , Eritema Multiforme , Herpes Labial , Humanos , Líquen Plano , Pênfigo , Estomatite AftosaRESUMO
The term primordial cyst was introduced in 1945 to identify the odontogenic cyst formed from enamel organ before calcification occurred as part of a classification based on development, structure, and radiographic appearance. The term odontogenic keratocyst was introduced in 1956 to describe cysts of the jaw exhibiting keratinization of their lining. Periodontal, dentigerous, primordial, residual, and gingival cysts may exhibit keratinized linings and can properly be identified as odontogenic keratocysts on the basis of their histologic appearance but may also be identified by their "developmental" designation. There is no justification for considering odontogenic keratocyst as a synonym for primordial cyst.