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1.
Sci Rep ; 9(1): 11211, 2019 08 01.
Article in English | MEDLINE | ID: mdl-31371754

ABSTRACT

Oculocutaneous syndromes are often due to mutations in single genes. In some cases, mouse models for these diseases exist in spontaneously occurring mutations, or in mice resulting from forward mutatagenesis screens. Here we present novel genes that may be causative for oculocutaneous disease in humans, discovered as part of a genome-wide screen of knockout-mice in a targeted single-gene deletion project. The International Mouse Phenotyping Consortium (IMPC) database (data release 10.0) was interrogated for all mouse strains with integument abnormalities, which were then cross-referenced individually to identify knockouts with concomitant ocular abnormalities attributed to the same targeted gene deletion. The search yielded 307 knockout strains from unique genes with integument abnormalities, 226 of which have not been previously associated with oculocutaneous conditions. Of the 307 knockout strains with integument abnormalities, 52 were determined to have ocular changes attributed to the targeted deletion, 35 of which represent novel oculocutaneous genes. Some examples of various integument abnormalities are shown, as well as two examples of knockout strains with oculocutaneous phenotypes. Each of the novel genes provided here are potentially relevant to the pathophysiology of human integumentary, or oculocutaneous conditions, such as albinism, phakomatoses, or other multi-system syndromes. The novel genes reported here may implicate molecular pathways relevant to these human diseases and may contribute to the discovery of novel therapeutic targets.


Subject(s)
Albinism, Oculocutaneous/genetics , Integumentary System/abnormalities , Animals , Disease Models, Animal , Female , Humans , Male , Mice , Mice, Knockout , Pigmentation/genetics
2.
Braz. J. Pharm. Sci. (Online) ; 54(spe): e01003, 2018. tab
Article in English | LILACS | ID: biblio-974427

ABSTRACT

Urban population around the globe is direct exposed to the pollution caused by several sources (vehicles, industries, smokes etc.) and primary pollutants are divided in particulate matter and toxic gases. Current researches in populous countries indicated that exposure to pollution could affect sebum composition, stratum corneum quality and signs of skin aging. Hair and scalp are also affected by the excessive exposure to pollutants, resulting in a dull, dry and lifeless appearance. Cosmetics have been evolved conceptual and scientifically to achieve substantial effectiveness against pollution damaging on the cutaneous tissue, involving the development of innovative multipurpose active ingredients and efficacy tests, skilled to prove the protection and benefits of such personal care products. In this review, we highlighted the skin and hair/scalp damages provoked by the main environmental pollutants and the active substances used in antipollution cosmetics/personal care products with the respective mechanisms of action. Likewise, in vitro and in vivo efficacy tests were discussed concerning the antipollution claim substantiating


Subject(s)
Efficacy , Environmental Pollutants/adverse effects , Hygiene , Integumentary System/abnormalities , Cosmetic Technology
3.
4.
Chemistry & Biodiversity ; 8(3): 548-558, 14 Mar , 2011.
Article in English | Sec. Est. Saúde SP, SESSP-IBPROD, Sec. Est. Saúde SP, SESSP-IBACERVO | ID: biblio-1061935

ABSTRACT

Schistosomiasis is a neglected tropical disease that remains a considerable public health problem worldwide. Since the mainstay of schistosomiasis control is chemotherapy with a single drug,praziquantel, drug resistance is a concern. Here, we examined the in vitro effects of dermaseptin 01(DS 01), an antimicrobial peptide found in the skin secretion of frogs of the genus Phyllomedusa, onSchistosoma mansoni adult worms. DS 01 at a concentration of 100 mg/ml reduced the worm motor activity and caused the death of all worms within 48 h in RPMI 1640 medium. At the highest sublethal concentration of antimicrobial peptide (75 mg/ml), a 100% reduction in egg output of paired female worms was observed. Additionally, DS 01 induced morphological alterations on the tegument of S. mansoni, and a quantitative analysis carried out by confocal microscopy revealed extensive destruction of the tubercles in a dose-dependent manner over the concentration range of 50 –200 mg/ml. It was the first time that an anthelmintic activity towards schistosomes has been reported for a dermaseptin.


Subject(s)
Antimicrobial Cationic Peptides/administration & dosage , Antimicrobial Cationic Peptides/analysis , Schistosoma mansoni , Schistosoma mansoni/parasitology , Genome, Helminth , Microscopy, Confocal/methods , Integumentary System/abnormalities
5.
Eur J Histochem ; 51(2): 145-51, 2007.
Article in English | MEDLINE | ID: mdl-17664165

ABSTRACT

Beta-keratins are responsible for the mechanical resistance of scales in reptiles. In a scaleless crotalus snake (Crotalus atrox), large areas of the skin are completely devoid of scales, and the skin appears delicate and wrinkled. The epidermis of this snake has been assessed for the presence of beta-keratin by immunocytochemistry and immunoblotting using an antibody against chicken scale beta-keratin. This antibody recognizes beta-keratins in normal snake scales with molecular weights of 15-18 kDa and isoelectric points at 6.8, 7.5, 8.3 and 9.4. This indicates that beta-keratins of the stratum corneum are mainly basic proteins, so may interact with cytokeratins of the epidermis, most of which appear acidic (isoelectric points 4.5-5.5). A beta-layer and beta-keratin immunoreactivity are completely absent in moults of the scaleless mutant, and the corneous layer comprises a multi-layered alpha-layer covered by a flat oberhautchen. In conclusion, the present study shows that a lack of beta-keratins is correlated with the loss of scales and mechanical protection in the skin of this mutant snake.


Subject(s)
Crotalus/genetics , Crotalus/metabolism , Epidermis/metabolism , Epidermis/ultrastructure , beta-Keratins/deficiency , Animals , Crotalus/anatomy & histology , Epidermis/abnormalities , Immunohistochemistry , Integumentary System/abnormalities , Integumentary System/physiology , Microscopy, Electron, Transmission , Molting , Mutation , beta-Keratins/genetics , beta-Keratins/metabolism
7.
Rev. Soc. Esp. Enferm. Nefrol ; 7(3): 165-160, jul.-sept. 2004. tab
Article in Spanish | IBECS | ID: ibc-152110

ABSTRACT

La aportación de la disciplina enfermera se concreta en la prestación de cuidados, y el proceso de enfermería permite reconocer la aportación de las enfermeras a los resultados de salud del paciente. En el Servicio Vasco de Salud (Osakidetza) se trabaja con el programa informático Zaineri, que recoge bajo soporte informático todos los cuidados y actividades que la enfermera realiza en la práctica diaria. Es fundamental que en las unidades se analice qué servicio estamos ofertando a nuestros clientes. Por ello el objetivo de este trabajo es describir el trabajo que realizan las enfermeras de Nefrología, a través del análisis de las necesidades alteradas de los pacientes ingresados y de los diagnósticos de enfermería planteados durante el año 2002. Material y método: estudio descriptivo de los planes de cuidados de los pacientes ingresados en la unidad entre el 1 de Enero de 2002 y el 31 de Diciembre de 2002. Resultados: del total de necesidades planteadas, el 65,30% pertenecen al área independiente de Enfermería mientras un 34,70% pertenecen al área interdependiente. Los diagnósticos derivados de Necesidades Humanas corresponden al 56,63% sobre el total, mientras aquellos diagnósticos (complicaciones) derivados de los sistemas, tienen un porcentaje del 43,37% (AU)


Nursing skills are offering a number of services to the patient, including its care. Nursing processes allow the identification of results on the patient´s health. In the Vasc Service of Health (Osakidetza) we work with the programme Zaineri that collects all processes done by nurses in their daily activities. Is is important to analyze what kind of service we are offering to our clients, therefore, the aim of this work is to describe the work done by nurses of nephrology through the analysis of the patient´s needs and nursing diagnosis during 2002. Material and methods: descriptive study of the care plan for patients from Jan 1st 2002 to Dec 31st 2002. Results: from all needs analyze, 65% belong to the nurse independent area, while 34% belong to the interdependent area. Diagnosis obtained from human needs are 57% while those obtained from systems are 43% (AU)


Subject(s)
Humans , Male , Female , Nursing Care/classification , Nursing Care/methods , Nephrology Nursing/education , Phlebitis/blood , Phlebitis/metabolism , Integumentary System/abnormalities , Nursing Care/standards , Nursing Care , Nephrology Nursing/standards , Epidemiology, Descriptive , Phlebitis/complications , Phlebitis/diagnosis , Integumentary System/pathology
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