RESUMEN
Urofacial syndrome (UFS) describes the combination of urological problems and an inverted facial expression upon attempts to smile. Seventeen independent familial cases from different ethnicities have been described so far. Some of these have been linked to chromosome 10q. Very recently, homozygous loss-of-function mutations affecting the gene HPSE2 were identified in nine cases. Here, we describe a consanguineous UFS family from Pakistan with three of six siblings affected. We establish linkage to the chromosome 10q critical region and identify two non-synonymous HPSE2 variants. In silico analysis and screening of controls defines c.631T>C (p.Y211H) as a novel benign SNP and c.1628A>T (p.N543I) as the disease-causing mutation. Our study exemplifies the challenges in proper clinical diagnosis of UFS and, thereby, supports the hypothesis of the disease being under diagnosed. By identifying the first HPSE2 missense mutation it also provides a starting point for studies aimed at functionally understanding the unusual combination of symptoms as characterizing UFS.
Asunto(s)
Cromosomas Humanos Par 10/genética , Glucuronidasa/genética , Mutación Missense , Enfermedades Urológicas/genética , Adolescente , Secuencia de Aminoácidos , Estudios de Casos y Controles , Niño , Análisis Mutacional de ADN , Facies , Femenino , Ligamiento Genético , Pruebas Genéticas , Genotipo , Humanos , Patrón de Herencia , Masculino , Datos de Secuencia Molecular , Linaje , Enfermedades Urológicas/diagnósticoRESUMEN
To assess amalgam use and waste management protocols practised by Pakistani dentists, a cross-sectional study was made of 239 dentists in Islamabad and Rawalpindi, recruited by convenience and cluster sampling. Amalgam was the most frequently used restorative material, with the choice dictated by patients' financial constraints. While 90.4% of dentists perceived amalgam as a health risk, only 46.4% considered it an environmental hazard. The majority disposed of amalgam waste in the trash, down the sink or as hospital waste. Very few (5.9%) had an amalgam separator installed in their dental office. Amalgam waste management protocols and mercury recycling should be introduced in Pakistan.
Asunto(s)
Actitud del Personal de Salud , Amalgama Dental , Residuos Dentales/prevención & control , Odontólogos/psicología , Eliminación de Residuos Sanitarios/métodos , Pautas de la Práctica en Odontología/organización & administración , Protocolos Clínicos , Estudios Transversales , Amalgama Dental/uso terapéutico , Odontólogos/organización & administración , Utilización de Medicamentos/estadística & datos numéricos , Educación de Posgrado en Odontología/estadística & datos numéricos , Salud Ambiental/organización & administración , Equipo Reutilizado , Femenino , Conocimientos, Actitudes y Práctica en Salud , Humanos , Masculino , Eliminación de Residuos Sanitarios/estadística & datos numéricos , Pakistán , Selección de Paciente , Encuestas y Cuestionarios , Población UrbanaRESUMEN
To assess amalgam use and waste management protocols practised by Pakistani dentists, a crosssectional study was made of 239 dentists in Islamabad and Rawalpindi, recruited by convenience and cluster sampling. Amalgam was the most frequently used restorative material, with the choice dictated by patients' financial constraints. While 90.4% of dentists perceived amalgam as a health risk, only 46.4% considered it an environmental hazard. The majority disposed of amalgam waste in the trash, down the sink or as hospital waste. Very few [5.9%] had an amalgam separator installed in their dental office. Amalgam waste management protocols and mercury recycling should be introduced in Pakistan
