Older brother

The incidence and effect of pressure sores on the disabled and elderly population have created a challenge to physicians and health care professionals, from emergency departments to rehabilitation units, and in the community. If not prevented, the morbidity and mortality of patients and the direct and indirect costs to both patients and the health care system are radically increased. In this article we define the impact on our health care system of pressure sores, provide an overview of a multifaceted approach to their prevention and management, and introduce successful behavioral and educational approaches for patients with chronic, recurrent sores. A coordinated approach with patients as informed participants and their care givers enhances the chances for success.     

Aniridia as part of a WAGR syndrome in a girl whose brother presented hypospadias

Aniridia can arise as part of the WAGR syndrome (Wilms tumour. aniridia, genitourinary anomalies, and mental retardation), due to a deletion or chromosomal region 11p13. We report a girl with a complete WAGR syndrome, whose brother presented hypospadias. Cytogenetic, FISH and molecular studies showed a deletion in one chromosome 11 of the patient. No cytogenetic rearrangement or deletion affecting the genes included in this region (PAX6 and WT1) were observed in her brother and parents. This excludes a higher risk than that of the general population for developing Wilms tumour in the brother and supports that the presence of WAGR syndrome in the patient and hypospadias in her brother is a chance association. We conclude that the identification and definition of the deletions in the WAGR region, which include the WT1 locus are important in order to identify a high tumour risk in infant patients with aniridia including those without other WAGR anomalies.