Clinical biological and genetic heterogeneity of the inborn errors of pulmonary surfactant metabolism

Pulmonary surfactant is a multimolecular complex located at the air-water interface within the alveolus to which a range of physical (surface-active properties) and immune functions has been assigned. This complex consists of a surface-active lipid layer (consisting mainly of phospholipids), and of an aqueous subphase. From discrete surfactant sub-fractions one can isolate strongly hydrophobic surf acta nt proteins B (SP-B) and C (SP-C) as well as collectins SP-A and SP-D, which were shown to have specific structural, metabolic, or immune properties. Inborn or acquired abnormalities of the surfactant, qualitative or quantitative in nature, account for a number of human diseases. Beside hyaline membrane disease of the preterm neonate, a cluster of hereditary or acquired lung diseases has been characterized by periodic acid-Schiff-positive material filling the alveoli. From this heterogeneous nosologic group, at least two discrete entities presently emerge. The first is the SP-B deficiency, in which an essentially proteinaceous material is stored within the alveoli, and which represents an autosomal recessive Mendelian entity linked to the SFTPB gene (MIM 1786640). The disease usually generally entails neonatal respiratory distress with rapid fatal outcome, although partial or transient deficiencies have also been observed. The second is alveolar proteinosis, characterized by the storage of a mixed protein and lipid material, which constitutes a relatively heterogeneous clinical and biological syndrome, especially with regard to age at onset (from the neonate through to adulthood) as well as the severity of associated signs. Murine models, with a targeted mutation of the gene encoding granulocyte macrophage colony-stimulating factor (GM-CSF) (Csfgm) or the beta subunit of its receptor (II3rb1) support the hypothesis of an abnormality of surfactant turnover in which the alveolar macrophage is a key player. Apart from SP-B deficiency, in which a near-consensus diagnostic chart can be designed, the ascertainment of other abnormalities of surfactant metabolism is not straightforward. The disentanglement of this disease cluster is however essential to propose specific therapeutic procedures: repeated broncho-alveolar ravages, GM-CSF replacement, bone marrow grafting or lung transplantation

Enhanced Eyelashes: Prescription and Over-the-Counter Options

Women have long strived to possess long, thick, and dark eyelashes. Prominent eyes and eyelashes are often considered a sign of beauty and can be associated with increased levels of attractiveness, confidence, and well-being. Numerous options may improve the appearance of eyelashes. Mascara aims to temporarily darken, lengthen, and thicken eyelashes using a combination of waxes, pigments, and resins. Artificial eyelashes can be adhered either to the dermal margin or to individual eyelashes. Individuals may even use eyelash transplantations to improve the appearance of their eyelashes. The unique properties of eyelashes (e.g., relatively long telogen and short anagen phases compared with scalp hairs, slow rate of growth, and a lack of influence by androgens) may allow for specific aesthetic interventions to improve the appearance of natural eyelashes. Some over-the-counter (OTC) products may contain prostaglandin analogs that can affect eyelash growth, but neither the safety nor efficacy of these OTC cosmetics has been fully studied. Originally indicated for the reduction of intraocular pressure, the synthetic prostaglandin analog bimatoprost was recently approved for the treatment of hypotrichosis of the eyelashes. In a double-blinded, randomized, vehicle-controlled trial, bimatoprost safely and effectively grew natural eyelashes, making them longer, thicker, and darker. Bimatoprost was generally safe and well tolerated and appears to provide an additional option for individuals looking to improve the appearance of their eyelashes

Clara cell adhesion and migration to extracellular matrix

<p>Abstract</p> <p>Background</p> <p>Clara cells are the epithelial progenitor cell of the small airways, a location known to be important in many lung disorders. Although migration of alveolar type II and bronchiolar ciliated epithelial cells has been examined, the migratory response of Clara cells has received little attention.</p> <p>Methods</p> <p>Using a modification of existing procedures for Clara cell isolation, we examined mouse Clara cells and a mouse Clara-like cell line (C22) for adhesion to and migration toward matrix substrate gradients, to establish the nature and integrin dependence of migration in Clara cells.</p> <p>Results</p> <p>We observed that Clara cells adhere preferentially to fibronectin (Fn) and type I collagen (Col I) similar to previous reports. Migration of Clara cells can be directed by a fixed gradient of matrix substrates (haptotaxis). Migration of the C22 cell line was similar to the Clara cells so integrin dependence of migration was evaluated with this cell line. As determined by competition with an RGD containing-peptide, migration of C22 cells toward Fn and laminin (Lm) 511 (formerly laminin 10) was significantly RGD integrin dependent, but migration toward Col I was RGD integrin independent, suggesting that Clara cells utilize different receptors for these different matrices.</p> <p>Conclusion</p> <p>Thus, Clara cells resemble alveolar type II and bronchiolar ciliated epithelial cells by showing integrin mediated pro-migratory changes to extracellular matrix components that are present in tissues after injury.</p

Interstitial lung disease in children - genetic background and associated phenotypes

Interstitial lung disease in children represents a group of rare chronic respiratory disorders. There is growing evidence that mutations in the surfactant protein C gene play a role in the pathogenesis of certain forms of pediatric interstitial lung disease. Recently, mutations in the ABCA3 transporter were found as an underlying cause of fatal respiratory failure in neonates without surfactant protein B deficiency. Especially in familiar cases or in children of consanguineous parents, genetic diagnosis provides an useful tool to identify the underlying etiology of interstitial lung disease. The aim of this review is to summarize and to describe in detail the clinical features of hereditary interstitial lung disease in children. The knowledge of gene variants and associated phenotypes is crucial to identify relevant patients in clinical practice

Analysis of scientific production of mental health researcher and psychiatric nursing specialist meetings Análisis de la producción científica de los encuentros de investigadores en salud mental y encuentro de especialistas en enfermería psiquiátrica Análise da produção científica dos encontros de pesquisadores em enfermagem psiquiátrica e saúde mental

This literature review was organized on the basis of the Annals of Mental Health Researcher and Psychiatric Nursing Specialists Meetings promoted by the University of São Paulo at Ribeirão Preto College of Nursing. It aimed to describe the history of these events, investigating the scenario and trends through the reading of texts published in these documents. All annals available from 1990 to 2004 were analyzed and read, based on an analysis protocol. The results showed that the published texts reflect the historical momentum of each national mental health policy movement in Brazil, indicating contradictions and advances. The conclusion is that the events provided a privileged forum to discuss and exchange experiences about the future of psychiatric nursing and mental health care, teaching and research in Brazil.<br>Estudio de revisión de literatura organizado a partir de los Anales de los Encuentros de Investigadores en Salud Mental y Encuentros de Especialistas en Enfermería Psiquiátrica promovidos por la Escuela de Enfermería de Ribeirão Preto/USP, con objeto de describir la trayectoria histórica de los referidos eventos e investigar el panorama y tendencias mediante la lectura de los textos divulgados en esos anales. Todos los Anales disponibles de 1990 a 2004 fueron analizados y el material publicado sometido a lectura, orientada por un protocolo de análisis. Los resultados mostraron que los textos divulgados retratan el momento histórico de cada movimiento producido por la política nacional de salud mental, señalizando contradicciones y avances. La conclusión es que los eventos se constituyeron en un espacio privilegiado para discusión y intercambios de experiencias sobre los rumos de la atención, enseñanza e investigación en enfermería psiquiátrica y salud mental en Brasil.<br>Este é um estudo de revisão de literatura, organizado a partir dos Anais dos Encontros de Pesquisadores em Saúde Mental e Encontros de Especialistas em Enfermagem Psiquiátrica, promovidos pela Escola de Enfermagem de Ribeirão Preto/USP com o objetivo de descrever a trajetória histórica dos referidos eventos e investigar o panorama e tendências, por meio da leitura dos textos divulgados nos mesmos. Todos os Anais, disponíveis de 1990 a 2004, foram analisados e o material publicado submetido à leitura, orientada por protocolo de análise. Os resultados mostraram que os textos divulgados retratam o momento histórico de cada movimento produzido pela política nacional de saúde mental, sinalizando contradições e avanços. A conclusão é de que os eventos se constituíram em espaço privilegiado para discussão e trocas de experiência dos rumos da assistência, ensino e pesquisa em enfermagem psiquiátrica e saúde mental no Brasil