Waardenburg syndrome type I: Dental phenotypes and genetic analysis of an extended family.

BACKGROUND: The aim of this study was to describe the pattern of inheritance and the clinical features in a large family with Waardenburg syndrome type I (WS1), detailing the dental abnormalities and screening for PAX3 mutations. MATERIAL AND METHODS: To characterize the pattern of inheritance and clinical features, 29 family members were evaluated by dermatologic, ophthalmologic, otorhinolaryngologic and orofacial examination. Molecular analysis of the PAX3 gene was performed. RESULTS: The pedigree of the family,including the last four generations, was constructed and revealed non-consanguineous marriages. Out of 29 descendants, 16 family members showed features of WS1, with 9 members showing two major criteria indicative of WS1. Five patients showed white forelock and iris hypopigmentation, and four showed dystopia canthorum and iris hypopigmentation. Two patients had hearing loss. Dental abnormalities were identified in three family members, including dental agenesis, conical teeth and taurodontism. Sequencing analysis failed to identify mutations in the PAX3 gene. CONCLUSIONS: These results confirm that WS1 was transmitted in this family in an autosomal dominant pattern with variable expressivity and high penetrance. The presence of dental manifestations, especially tooth agenesis and conical teeth which resulted in considerable aesthetic impact on affected individuals was a major clinical feature. CLINICAL RELEVANCE: This article reveals the presence of well-defined dental changes associated with WS1 and tries to establish a possible association between these two entities showing a new spectrum of WS1.

Quality of hand hygiene in a pediatric hospital in Rio de Janeiro, Brazil.

We assessed the quality of hand hygiene among healthcare workers at a pediatrics hospital in Rio de Janeiro, Brazil. Hand hygiene was performed in 491 (34%) of 1,455 opportunities. Of these hand hygiene events, correct performance was observed in only 173 (35%). Multivariate analysis revealed that correct performance of hand hygiene was associated with the use of an alcohol-based product and a lack of jewelry (for all events) and employment in an infirmary with a comparatively higher ratio of nurses to patients (for events involving nurses).

Progressive multifocal leukoencephalopathy in a child with acquired immunodeficiency syndrome (AIDS).

Progressive multifocal leukoencephalopathy is a rare viral-induced demyelinating disease associated to immunodeficiency. A 10-year-old boy with AIDS is reported, who developed subacute cerebellar signs and symptoms with multiple cranial nerve involvement and dementia. A computed tomography scan revealed a focal nonenhancing area of low attenuation in the cerebellum. On magnetic resonance imaging high signal lesions in T2 weighted sequences were shown. The biopsy of one of those lesions showed the typical histological findings of progressive multifocal leukoencephalopathy. It seems important to consider this diagnosis in children with AIDS who present with progressive neurological features.