RESUMO
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.
Assuntos
Cromossomos Humanos Par 10/genética , Glucuronidase/genética , Mutação de Sentido Incorreto , Doenças Urológicas/genética , Adolescente , Sequência de Aminoácidos , Estudos de Casos e Controles , Criança , Análise Mutacional de DNA , Fácies , Feminino , Ligação Genética , Testes Genéticos , Genótipo , Humanos , Padrões de Herança , Masculino , Dados de Sequência Molecular , Linhagem , Doenças Urológicas/diagnósticoRESUMO
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.
Assuntos
Atitude do Pessoal de Saúde , Amálgama Dentário , Resíduos Odontológicos/prevenção & controle , Odontólogos/psicologia , Eliminação de Resíduos de Serviços de Saúde/métodos , Padrões de Prática Odontológica/organização & administração , Protocolos Clínicos , Estudos Transversais , Amálgama Dentário/uso terapêutico , Odontólogos/organização & administração , Uso de Medicamentos/estatística & dados numéricos , Educação de Pós-Graduação em Odontologia/estatística & dados numéricos , Saúde Ambiental/organização & administração , Reutilização de Equipamento , Feminino , Conhecimentos, Atitudes e Prática em Saúde , Humanos , Masculino , Eliminação de Resíduos de Serviços de Saúde/estatística & dados numéricos , Paquistão , Seleção de Pacientes , Inquéritos e Questionários , População UrbanaRESUMO
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
