Neonatal lethal hypophosphatasia: A case report and review of literature.

RATIONALE: Hypophosphatasia (HPP) is a very rare metabolic bone disease caused by loss-of-function mutations in the ALPL gene encoding the tissue nonspecific alkaline phosphatase. The severe neonatal form is considered lethal but insights into manifestations of the disease can help to increase our knowledge of the natural history for an early initiation of treatment and improvement of survival. PATIENT CONCERNS: We report the case of a newborn in which his fetal imaging showed findings of skeletal dysplasia disorder, considering initially achondroplasia as a potential diagnosis. DIAGNOSIS: A definitive diagnosis compatible with perinatal lethal HPP was established in the 1st days due to the presentation at birth with thoracic and pulmonary hypoplasia, bone hypomineralization, and undetectable alkaline phosphatase. The genetic analysis identified a new heterozygous c.413G>C mutation and another 1 c.473-2G>C previously described in the ALPL gene. OUTCOMES: The patient died on the 4th day by clinical course complicated without having started enzyme replacement therapy (ERT). Retrospectively, previous analyzes of the parents already showed both a decreased alkaline phosphatase. LESSONS: This report highlights the importance of prenatal differential diagnosis of bone dysplasia with the key biochemical marker of alkaline phosphatase in the parents. Substitutive ERT administered very soon after birth, seems to change the prognosis in these patients with neonatal HPP.

Uso de cosméticos por mulheres do município de Esperança, Paraíba, Brasil / Use of cosmetics for women of the city of Hope, Paraíba, Brazil

O aumento de vendas de produtos cosméticos e de higiene pessoal deve ser atentamente acompanhado pelos setores regulatórios competentes, uma vez que mais de oito mil matérias-primas são usadas na formulação destes produtos e muitas podem ocasionar efeitos adversos tóxicos ou mesmo alergias. Assim, este trabalho visou investigar quais as finalidades do uso de cosméticos entre mulheres, conhecer os mais utilizados e saber os locais de aquisição destes produtos. Tratou-se de um estudo transversal, descritivo e exploratório, tendo como instrumento de coleta de dados um questionário com perguntas objetivas, aplicado entre 102 mulheres. A higiene (65,7%) foi respondida como a principal finalidade de uso. Os produtos com maior frequência de utilização foram os perfumes e desodorantes (90,2%), maquiagens (74,5%), produtos para depilação (74,5%) e tinturas de cabelos (41,2%). A maior parte das mulheres (63,7%) relatou comprar os cosméticos em revistas. Diante dos resultados expostos, pode-se inferir que as mulheres utilizam variados tipos de cosméticos, com diferentes finalidades, o que pode implicar em risco para saúde.

The increasing sales of cosmetics and toiletries must be carefully monitored by competent regulatory sectors, as many of the more than eight thousand ingredients used to formulate cosmetics can have adverse effects, such as carcinogenicity, genotoxicity, phototoxicity, contact dermatitis, hives, hypopigmentation, hyperpigmentation, depigmentation, damage to hair and nails, etc. The aims of the present study were to investigate the reasons for the use of cosmetics by women and determine both the most frequently used products and where such products are acquired. For such, a cross-sectional study with an analytical approach was carried out. Data were collected through the use of a questionnaire with objective questions administered to 102 women. Hygiene (65.7%) was the main reason cited for using cosmetic products. The most frequently used products were perfumes and deodorants (90.2%), makeup (74.5%), hair removal products (74.5%) and hair dyes (41.2%). The majority (63.7%) reported to buying cosmetics from catalogues. The present findings demonstrate that women use many kinds of cosmetics for different purposes, which may imply health risks.