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1.
Heart Rhythm O2 ; 2(4): 382-387, 2021 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-34223287

RESUMO

BACKGROUND: Many commonly used drugs can prolong the QTc interval (QTc), which can lead to potentially life-threatening arrhythmias. In the current era of the COVID-19 pandemic, it is worth mentioning that the disease itself and several drugs used for its treatment have been associated with QTc prolongation. OBJECTIVE: To evaluate the agreement and clinical precision of a portable single-lead electrocardiogram (ECG) device to measure the QTc interval compared to the standard 12-lead ECG. METHODS: In sequential tests, QTc of ECG recordings obtained with the KardiaMobile (KM-1L) device (AliveCor, San Francisco, CA) were compared to QTc obtained with conventional 12-lead ECG. Agreement was evaluated using Bland-Altman plots and Lin's concordance coefficient. Consistency between the 2 devices in determining QTc prolongation (QTc ≥470 ms in males or ≥480 ms in females) was evaluated with kappa statistics. RESULTS: A total of 128 patients with a presumed or confirmed diagnosis of COVID-19 admitted to a university hospital were included. QTc intervals measured with KM-1L were similar to QTc measured with conventional ECG (442.45 ± 40.5 vs 441.65 ± 40.3 ms, P = .15). Bland-Altman analysis showed no significant difference in QTc values (average difference of -0.797, 95% limits of agreement:-13.179; 11.585). Lin's concordance coefficient showed an excellent agreement (0.988, P < .001). Concordance between the 2 devices for determining QTc prolongation was excellent (kappa >0.90). CONCLUSION: ECG recordings obtained with KM-1L allow an accurate QTc interval assessment. Considering its simplicity of use, this approach has advantages over conventional ECG and can provide an alternative for the evaluation of QTc in hospitalized patients, during the current time of the COVID-19 pandemic and beyond.

2.
Eur Neuropsychopharmacol ; 48: 49-88, 2021 07.
Artigo em Inglês | MEDLINE | ID: mdl-33781629

RESUMO

In the last decade there has been a revolution in terms of genetic findings in neurodevelopmental disorders (NDDs), with many discoveries critical for understanding their aetiology and pathophysiology. Clinical trials in single-gene disorders such as fragile X syndrome highlight the challenges of investigating new drug targets in NDDs. Incorporating a developmental perspective into the process of drug development for NDDs could help to overcome some of the current difficulties in identifying and testing new treatments. This paper provides a summary of the proceedings of the 'New Frontiers Meeting' on neurodevelopmental disorders organised by the European College of Neuropsychopharmacology in conjunction with the Innovative Medicines Initiative-sponsored AIMS-2-TRIALS consortium. It brought together experts in developmental genetics, autism, NDDs, and clinical trials from academia and industry, regulators, patient and family associations, and other stakeholders. The meeting sought to provide a platform for focused communication on scientific insights, challenges, and methodologies that might be applicable to the development of CNS treatments from a neurodevelopmental perspective. Multidisciplinary translational consortia to develop basic and clinical research in parallel could be pivotal to advance knowledge in the field. Although implementation of clinical trials for NDDs in paediatric populations is widely acknowledged as essential, safety concerns should guide each aspect of their design. Industry and academia should join forces to improve knowledge of the biology of brain development, identify the optimal timing of interventions, and translate these findings into new drugs, allowing for the needs of users and families, with support from regulatory agencies.


Assuntos
Transtorno Autístico , Transtornos do Neurodesenvolvimento , Criança , Descoberta de Drogas/métodos , Humanos , Transtornos do Neurodesenvolvimento/tratamento farmacológico , Transtornos do Neurodesenvolvimento/genética
3.
Artigo em Espanhol | CUMED | ID: cum-79449

RESUMO

Fundamento:una adecuada higiene bucal es necesaria en los pacientes que portan aparatos de ortodoncia.Objetivo:identificar conocimientos, actitudes, prácticas e higiene bucal en pacientes con aparatos de ortodoncia.Métodos:se realizó un estudio con diseño no experimental, descriptivo y transversal en la Clínica Estomatológica Docente Provincial de Sancti Spíritus en el período entre septiembre de 2018 y julio de 2019. Se utilizaron métodos del nivel teórico, empírico (encuesta, entrevista, observación y estadístico). La población estuvo constituida por 30 pacientes de esta institución con tratamiento de ortodoncia. Se midieron las variables: edad y sexo del paciente, tipo de aparato de ortodoncia, nivel de conocimiento sobre salud bucodental, actitud y prácticas del paciente de higiene bucal, frecuencia, forma y eficiencia del cepillado dental, así como el cepillado o no después de la ingestión de alimentos azucarados.Resultados:el 100 % de los pacientes presentó conocimientos deficientes sobre salud bucal y prácticas desfavorables, aunque se constató actitudes favorables en el 63,3 % de los pacientes. Predominó una higiene bucal regular en la población estudiada antes de iniciar el tratamiento y después de instalar los aparatos, de manera similar en los grupos con aparatos removibles, funcionales y fijos.Conclusiones:los pacientes de la población estudiada necesitan educación para apropiarse de conocimientos suficientes para mantener actitudes, prácticas e higiene bucal saludables.[AU]


Assuntos
Higiene Bucal , Ortodontia , Escovação Dentária , Conhecimento , Aparelhos Ortodônticos
4.
HIV Med ; 19 Suppl 1: 63-65, 2018 02.
Artigo em Inglês | MEDLINE | ID: mdl-29488706

RESUMO

BACKGROUND: The introduction in 2006 of the rapid HIV test by BCN Checkpoint in a non-clinical setting has been a successful step forwards in the uptake of testing. Nevertheless, HIV serostatus should be reported as HIV positive only when a reactive result has been tested again using a different assay (WHO guidelines 2015). The standard confirmation test has been the Western Blot (WB) test. However confirmation results take around 7 days to come back. AIMS: This study explores the possibility of Point of Care PCR testing for a same-day confirmation. MATERIALS AND METHODS: Between March 2015 and September 2016 a POC PCR test (Xpert® HIV-1 Qual) was performed in parallel to the Western Blot test after a reactive HIV rapid test (Alere Determine™ HIV-1/2 Ag/Ab Combo and Alere™ HIV Combo). HIV confirmed positive cases received emotional support by peers, were informed and prepared for treatment initiation and rapidly linked to HIV clinic. RESULTS: During the study period 11 455 tests were performed to 7163 clients. A total of 249 reactive rapid HIV tests were found. For analysis a total of 33 cases were excluded due to the lack of PCR and/or WB test. Results of comparison of the 216 cases showed 194 concordant positive confirmations and 14 concordant negative results. In three cases PCR was positive and WB negative. In five cases PCR was negative and WB positive. CONCLUSION: The POC PCR assay is easy to use and feasible in a community-based center. Reducing time for confirmation to 90 min has been possible in 91.2% (197/216) of cases with positive PCR result. In cases of a negative PCR result an additional test (WB, Elisa or PCR quantitative) was needed to distinguish false positive results (6.5%) from viral load results below level of detection (2.3%). Clients expressed satisfaction with same-day confirmation and less anxiety.


Assuntos
Serviços de Diagnóstico/organização & administração , Infecções por HIV/diagnóstico , Sistemas Automatizados de Assistência Junto ao Leito , Ansiedade , Infecções por HIV/psicologia , Humanos , Imunoensaio/métodos , Técnicas de Diagnóstico Molecular/métodos , Fatores de Tempo
5.
Food Funct ; 9(2): 1245-1253, 2018 Feb 21.
Artigo em Inglês | MEDLINE | ID: mdl-29387856

RESUMO

Milk and milk-derived products are a relevant source of bioactive peptides, which are also potential components of functional foods. Bioactive peptides exert multiple actions including an antioxidant role. In the present paper, four synthetic peptides (NPYVPR, AVPYPQR, KVLPVPEK, and ARHPHPHLSFM), corresponding to milk-derived peptides were studied. Although with different features, as revealed by RP-HPLC chromatography and MS analysis, the obtained peptides were shown to be taken up by Caco-2 cells arranged in an epithelial monolayer formation. The four peptides were all able to preserve cell viability against induced oxidative stress indicating that they might have a role in the control of oxidative stress. Therefore, an estimation of total thiols and glutathione content was performed after cell treatment with oxidants like hydrogen peroxide (H2O2) or tert-butyl hydroperoxide (TbOOH). The peptides were able to prevent the decrease of both total thiols and glutathione induced by H2O2 or TbOOH, and, in addition, they showed a protective effect on the thiol-related antioxidant enzymes thioredoxin reductase and glutathione reductase. Finally, they caused a decrease of ROS production induced by TbOOH in Caco-2 cells. The reported results highlight the relevant antioxidant role played by bioactive peptides in cells, which adds to other previously known properties.


Assuntos
Leite/química , Estresse Oxidativo/efeitos dos fármacos , Peptídeos/farmacologia , Substâncias Protetoras/farmacologia , Animais , Antioxidantes/química , Antioxidantes/farmacologia , Células CACO-2 , Bovinos , Glutationa/metabolismo , Glutationa Peroxidase/metabolismo , Glutationa Redutase/metabolismo , Humanos , Peróxido de Hidrogênio/efeitos adversos , Peptídeos/química , Substâncias Protetoras/química , Espécies Reativas de Oxigênio/metabolismo , Superóxido Dismutase/metabolismo
6.
Nanotechnology ; 28(27): 275702, 2017 Jul 07.
Artigo em Inglês | MEDLINE | ID: mdl-28525395

RESUMO

The room temperature photoluminescence from ZnO/MgO core/shell nanowires (NWs) grown by a simple two-step vapor transport method was studied for various MgO shell widths (w). Two distinct effects induced by the MgO shell were clearly identified. The first one, related to the ZnO/MgO interface formation, is evidenced by strong enhancements of the zero-phonon and first phonon replica of the excitonic emission, which are accompanied by a total suppression of its second phonon replica. This effect can be explained by the reduction of the band bending within the ZnO NW core that follows the removal of atmospheric adsorbates and associated surface traps during the MgO growth process on one hand, and a reduced exciton-phonon coupling as a result of the mechanical stabilization of the outermost ZnO NW monolayers by the MgO shell on the other hand. The second effect is the gradual increase of the excitonic emission and decrease in the defect related emission by up to two and one orders of magnitude, respectively, when w is increased in the ∼3-17 nm range. Uniaxial strain build-up within the ZnO NW core with increasing w, as detected by x-ray diffraction measurements, and photocarrier tunneling escape from the ZnO core through the MgO shell enabled by defect-states are proposed as possible mechanisms involved in this effect. These findings are expected to be of key significance for the efficient design and fabrication of ZnO/MgO NW heterostructures and devices.

7.
Cell Death Dis ; 6: e1854, 2015 Aug 13.
Artigo em Inglês | MEDLINE | ID: mdl-26270349

RESUMO

Excitotoxicity following cerebral ischemia elicits a molecular cascade, which leads to neuronal death. c-Jun-N-terminal kinase (JNK) has a key role in excitotoxic cell death. We have previously shown that JNK inhibition by a specific cell-permeable peptide significantly reduces infarct size and neuronal death in an in vivo model of cerebral ischemia. However, systemic inhibition of JNK may have detrimental side effects, owing to blockade of its physiological function. Here we designed a new inhibitor peptide (growth arrest and DNA damage-inducible 45ß (GADD45ß-I)) targeting mitogen-activated protein kinase kinase 7 (MKK7), an upstream activator of JNK, which exclusively mediates JNK's pathological activation. GADD45ß-I was engineered by optimizing the domain of the GADD45ß, able to bind to MKK7, and by linking it to the TAT peptide sequence, to allow penetration of biological membranes. Our data clearly indicate that GADD45ß-I significantly reduces neuronal death in excitotoxicity induced by either N-methyl-D-aspartate exposure or by oxygen-glucose deprivation in vitro. Moreover, GADD45ß-I exerted neuroprotection in vivo in two models of ischemia, obtained by electrocoagulation and by thromboembolic occlusion of the middle cerebral artery (MCAo). Indeed, GADD45ß-I reduced the infarct size when injected 30 min before the lesion in both models. The peptide was also effective when administrated 6 h after lesion, as demonstrated in the electrocoagulation model. The neuroprotective effect of GADD45ß-I is long lasting; in fact, 1 week after MCAo the infarct volume was still reduced by 49%. Targeting MKK7 could represent a new therapeutic strategy for the treatment of ischemia and other pathologies involving MKK7/JNK activation. Moreover, this new inhibitor can be useful to further dissect the physiological and pathological role of the JNK pathway in the brain.


Assuntos
Infarto da Artéria Cerebral Média/tratamento farmacológico , MAP Quinase Quinase 7/antagonistas & inibidores , Neurônios/efeitos dos fármacos , Fármacos Neuroprotetores/farmacologia , Peptídeos/farmacologia , Sequência de Aminoácidos , Animais , Animais Recém-Nascidos , Antígenos de Diferenciação/química , Antígenos de Diferenciação/genética , Antígenos de Diferenciação/metabolismo , Hipóxia Celular , Córtex Cerebral/efeitos dos fármacos , Córtex Cerebral/metabolismo , Córtex Cerebral/patologia , Eletrocoagulação , Regulação da Expressão Gênica , Glucose/toxicidade , Infarto da Artéria Cerebral Média/genética , Infarto da Artéria Cerebral Média/metabolismo , Infarto da Artéria Cerebral Média/patologia , Proteínas Quinases JNK Ativadas por Mitógeno/genética , Proteínas Quinases JNK Ativadas por Mitógeno/metabolismo , MAP Quinase Quinase 7/química , MAP Quinase Quinase 7/genética , MAP Quinase Quinase 7/metabolismo , Masculino , Simulação de Acoplamento Molecular , Dados de Sequência Molecular , N-Metilaspartato/toxicidade , Neurônios/metabolismo , Neurônios/patologia , Fármacos Neuroprotetores/síntese química , Peptídeos/síntese química , Cultura Primária de Células , Engenharia de Proteínas , Ratos , Ratos Sprague-Dawley , Transdução de Sinais , Tromboembolia , Técnicas de Cultura de Tecidos
8.
Rev. chil. obstet. ginecol ; 80(3): 261-264, jun. 2015. ilus
Artigo em Espanhol | LILACS | ID: lil-752878

RESUMO

El himen imperforado es una anomalía congénita del desarrollo genital femenino. A pesar de ser la anomalía obstructiva más frecuente, presenta una incidencia estimada del 0,1% de las recién nacidas. Su diagnóstico es principalmente clínico, habitualmente ante la presencia de dolor abdominal cíclico en una adolescente que no ha presentado la menarquia. Presentamos el caso de una paciente de 12 años de edad que acudió al Servicio de Urgencias por dolor abdominal intenso, acompañado de alteración del hábito intestinal de dos días de evolución. Tras una detallada anamnesis y exploración física, es diagnosticada de himen imperforado con el apoyo de las pruebas complementarias. El cuadro clínico se resolvió tras la realización de una himenectomía.


Imperforate hymen is a congenital anomaly of female genital development. Although it is the most common obstructive anomaly has an estimated incidence of 0.1% of newborn. The diagnosis is primarily clinical, usually in the presence of cyclic abdominal pain in an adolescent who has not submitted menarche. We report the case of a 12 years old woman came to the emergency department by abdominal intense pain accompanied by altered bowel habit in two days. After a detailed history and physical examination, was diagnosed with imperforate hymen with the support of additional tests. The clinical symptoms resolved after performing a hymenectomy.


Assuntos
Humanos , Feminino , Criança , Dor Abdominal/etiologia , Hímen/anormalidades , Hímen/cirurgia , Anormalidades Congênitas , Hematocolpia/etiologia
9.
Vet Microbiol ; 174(3-4): 296-301, 2014 Dec 05.
Artigo em Inglês | MEDLINE | ID: mdl-25448444

RESUMO

Porcine circovirus type 2 (PCV2) is a ubiquitous virus that mainly affects nursery and fattening pigs causing systemic disease (PCV2-SD) or subclinical infection. A characteristic sign in both presentations is reduction of average daily weight gain (ADWG). The present study aimed to assess the relationship between PCV2 load in serum and ADWG from 3 (weaning) to 21 weeks of age (slaughter) (ADWG 3-21). Thus, three different boar lines were used to inseminate sows from two PCV2-SD affected farms. One or two pigs per sow were selected (60, 61 and 51 piglets from Pietrain, Pietrain×Large White and Duroc×Large White boar lines, respectively). Pigs were bled at 3, 9, 15 and 21 weeks of age and weighted at 3 and 21 weeks. Area under the curve of the viral load at all sampling times (AUCqPCR 3-21) was calculated for each animal according to standard and real time quantitative PCR results; this variable was categorized as "negative or low" (<10(4.3) PCV2 genome copies/ml of serum), "medium" (≥10(4.3) to ≤10(5.3)) and "high" (>10(5.3)). Data regarding sex, PCV2 antibody titre at weaning and sow parity was also collected. A generalized linear model was performed, obtaining that paternal genetic line and AUCqPCR 3-21 were related to ADWG 3-21. ADWG 3-21 (mean±typical error) for "negative or low", "medium" and "high" AUCqPCR 3-21 was 672±9, 650±12 and 603±16 g/day, respectively, showing significant differences among them. This study describes different ADWG performances in 3 pig populations that suffered from different degrees of PCV2 viraemia.


Assuntos
Anticorpos Antivirais/sangue , Infecções por Circoviridae/veterinária , Circovirus/fisiologia , Doenças dos Suínos/virologia , Animais , Infecções Assintomáticas , Infecções por Circoviridae/virologia , Feminino , Modelos Lineares , Gravidez , Suínos , Carga Viral , Viremia/veterinária , Desmame , Aumento de Peso
10.
Rev. esp. investig. oftalmol ; 4(1): 32-34, ene.-mar. 2014. ilus
Artigo em Espanhol | IBECS | ID: ibc-119769

RESUMO

Introducción. El síndrome del seno silente es un proceso patológico poco frecuente, el cual asocia la presencia de enoftalmos unilateral secundario al colapso gradual del suelo orbitario, acompañado de opacificación del seno maxilar, en presencia de un cuadro de sinusitis crónica subclínica y sin síntomas nasosinusales. Caso clínico: paciente femenina de 46 años que acude por asimetría facial secundaria a hipoplasia del seno maxilar izquierdo, acompañado de enoftalmosipsilateral, confirmada radiológicamente mediante estudio tomografico, y diagnosticada de síndrome del seno silente, la cual mejoro tras turbinoplastia endoscópica mediante radiofrecuencia izquierda. Conclusión: el síndrome del seno silente se encuentra caracterizado por una fisiopatología controvertida cuya principal mecanismo parece obedecer a la hipoventilaciónsinusal yva a precisar un minucioso estudio clínico por parte de un equipo multidisciplinario integrado por el oftalmólogo, el otorrinolaringólogo y el neuro-radiólogo. En cuanto al tratamiento, puede evolucionar de forma satisfactoria tras la apertura del complejo osteomeatal, aunque en muchas ocasiones será necesariala cirugía correctiva para la base de la órbita (AU)


Introduction. The silent sinus syndrome is a rare disease, which associates the presence of unilateral enophthalmos secondary to the gradual collapse of the orbital floor, accompanied by opacification of the maxillary sinus in the presence of subclinical chronic sinusitis without sinonasal symptoms. Case report. A 46-year female patient who presented with facial asymmetry secondary to hypoplasia of the left maxillary sinus, accompanied by ipsilateralenophthalmos, radiologically confirmed by tomographic study, and diagnosed with silent sinus syndrome, which improved after left endoscopic radiofrequency turbinoplasty. Conclusion: the silent sinus syndrome is characterized by a controversial pathophysiology whose main mechanism seems to follow the sinus hypoventilation and will require clinical study by a multidisciplinary team composed by ophthalmologist, otolaryngologist and neuroradiologist. As for treatment, it can evolve satisfactorily when the drainage ostium wide, although sometimes corrective surgery for the base of the orbit will be necessary (AU)


Assuntos
Humanos , Feminino , Pessoa de Meia-Idade , Sinusite/complicações , Anoftalmia/complicações , Doenças Orbitárias/complicações , Seio Maxilar/fisiopatologia
11.
Rev. esp. investig. oftalmol ; 4(1): 43-45, ene.-mar. 2014. ilus
Artigo em Espanhol | IBECS | ID: ibc-119772

RESUMO

La oftalmomiasis es la infestación del ojo con larvas de diferentes moscas. Oestrus ovis (conocida como la «mosca del carnero») pertenece a la familia Oestridae y es la causa más común de oftalmomiasis. La afectación ocular se clasifica en oftalmomiasis externa, interna y orbitaria en función del sitio de invasión por larvas. La oftalmomiasis externa sin tratamiento puede evolucionar a formas internas. El tratamiento de la oftalmomiasis externa consiste en la extracción completade las larvas y esteroides tópicos y antibióticos (AU)


Ophthamomyiasis is the infestacion of the human eye with larvae(maggots) of various flies. Oestrus ovis (also known as the sheepbotfly) is part of the Oestridae family and is the most common cause of ophthamomyiasis. The ocular affection can be classified in external ophthamomyiasis, internal and orbital depending on the site of the larval invasion. The external ophthamomyiasis without proper treatment can lead to internal forms of ophthamomyiasis. The treatment consists in the complete extraction of the larvae associated with topical antibiotics and steroids (AU)


Assuntos
Humanos , Miíase/diagnóstico , Infecções Oculares Parasitárias/diagnóstico , Esteroides/administração & dosagem , Administração Tópica , Antiparasitários/uso terapêutico
12.
Cell Mol Life Sci ; 71(12): 2193-6, 2014 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-24566881

RESUMO

The motif "SYDE", incorporating the protein kinase CK2 consensus sequence (S-x-x-E) has been found to be phosphorylated at both its serine and tyrosine residues in several proteins. Of special interest is the case of cystic fibrosis Transmembrane-conductance Regulator (CFTR), where this motif is close to the residue (F508), whose deletion is the by far commonest cause of cystic fibrosis. Intriguingly, however, CFTR S511 cannot be phosphorylated by CK2 to any appreciable extent. Using a number of peptide substrates encompassing the CFTR "SYDE" site we have recently shown that: (1) failure of CK2 to phosphorylate the S(511)YDE motif is due to the presence of Y512; (2) CK2 readily phosphorylates S511 if Y512 is replaced by a phospho-tyrosine; (3) the Src family protein tyrosine kinase Lyn phosphorylates Y512 in a manner that is enhanced by the deletion of F508. These data, in conjunction with the recent observation that by inhibiting CK2 the degradation of F508delCFTR is reduced, lead us to hypothesize that the hierarchical phosphorylation of the motif SYDE by the concerted action of protein tyrosine kinases and CK2 is one of the mechanisms that cooperate to the premature degradation of F508delCFTR.


Assuntos
Caseína Quinase II/metabolismo , Regulador de Condutância Transmembrana em Fibrose Cística/química , Regulador de Condutância Transmembrana em Fibrose Cística/genética , Fibrose Cística/genética , Domínios e Motivos de Interação entre Proteínas , Sequência de Aminoácidos , Ácido Aspártico/genética , Ácido Aspártico/metabolismo , Sequência Consenso , Dictyostelium , Ácido Glutâmico/genética , Ácido Glutâmico/metabolismo , Humanos , Dados de Sequência Molecular , Fosforilação , Serina/genética , Serina/metabolismo , Tirosina/genética , Tirosina/metabolismo
13.
Microb Cell ; 1(5): 160-162, 2014 May 05.
Artigo em Inglês | MEDLINE | ID: mdl-28357240

RESUMO

Methionine restriction (MetR) is one of the rare regimes that prolongs lifespan across species barriers. Using a yeast model, we recently demonstrated that this lifespan extension is promoted by autophagy, which in turn requires vacuolar acidification. Our study is the first to place autophagy as one of the major players required for MetR-mediated longevity. In addition, our work identifies vacuolar acidification as a key downstream element of autophagy induction under MetR, and possibly after rapamycin treatment. Unlike other amino acids, methionine plays pleiotropic roles in many metabolism-relevant pathways. For instance, methionine (i) is the N-terminal amino acid of every newly translated protein; (ii) acts as the central donor of methyl groups through S-adenosyl methionine (SAM) during methylation reactions of proteins, DNA or RNA; and (iii) provides the sulfhydryl groups for FeS-cluster formation and redox detoxification via transsulfuration to cysteine. Intriguingly, MetR causes lifespan extension, both in yeast and in rodents. We could show that in Saccharomyces cerevisiae, chronological lifespan (CLS) is increased in two specific methionine-auxotrophic strains (namely Δmet2 and Δmet15).

14.
Rev. esp. investig. oftalmol ; 3(4): 223-226, oct.-dic. 2013. ilus
Artigo em Espanhol | IBECS | ID: ibc-132295

RESUMO

Se presenta el caso clínico de paciente femenina de 9 años de edad con antecedente médico de epilepsia, con Dermatitis y eczema en párpados de larga evolución, tratado con Hidrocortisona. Es evaluada por servicio de Oftalmología con diagnóstico final de Blefaritis por Phthirus pubis, siendo tratada mediante eliminación mecánica de los ectoparásitos y Terracortil®. Conclusión. La infestación de las pestañas por Phthirus pubis es una causa poco frecuente de Blefaritis, pero que se conoce es más prevalente durante la edad pediátrica y que debe ser planteada como diagnóstico en éstos paciente con signos y síntomas de Blefaritis. Su diagnóstico en consulta es clínico mediante observación con lámpara de hendidura y el definitivo es mediante el estudio microscópico de los parásitos. La eliminación mecánica de los parásitos es el tratamiento más importante, así como el estudio y tratamiento de los posibles contagios (AU)


We present a case of female patient 9 years old with medical history of epilepsy with eyelid dermatitis and eczema in a long evolution, treated with Hydrocortisone. It is evaluated by ophthalmology service with a final diagnosis of blepharitis by Phthirus pubis, being treated by mechanical removal of ectoparasites and Terracortil ®. Conclusion. The infestation of the eyelashes by Phthirus pubis is a rare cause of blepharitis, but is known is more prevalent in childhood and should be raised as a diagnosis in these patients with signs and symptoms of blepharitis. Its diagnosis is clinical consultation by slit lamp observations and the final is by microscopic examination of parasites. Mechanical removal of the parasites is the most important treatment, and the study and treatment of possible infections (AU)


Assuntos
Humanos , Feminino , Criança , Túnica Conjuntiva/anormalidades , Túnica Conjuntiva/citologia , Blefarite/complicações , Blefarite/diagnóstico , Osso Púbico/anormalidades , Túnica Conjuntiva/microbiologia , Túnica Conjuntiva/fisiologia , Túnica Conjuntiva/parasitologia , Blefarite/prevenção & controle , Blefarite/parasitologia , Osso Púbico/parasitologia
15.
Cell Death Dis ; 4: e858, 2013 Oct 17.
Artigo em Inglês | MEDLINE | ID: mdl-24136222

RESUMO

The biological functions of myotonic dystrophy protein kinase (DMPK), a serine/threonine kinase whose gene mutations cause myotonic dystrophy type 1 (DM1), remain poorly understood. Several DMPK isoforms exist, and the long ones (DMPK-A/B/C/D) are associated with the mitochondria, where they exert unknown activities. We have studied the isoform A of DMPK, which we have found to be prevalently associated to the outer mitochondrial membrane. The kinase activity of mitochondrial DMPK protects cells from oxidative stress and from the ensuing opening of the mitochondrial permeability transition pore (PTP), which would otherwise irreversibly commit cells to death. We observe that DMPK (i) increases the mitochondrial localization of hexokinase II (HK II), (ii) forms a multimeric complex with HK II and with the active form of the tyrosine kinase Src, binding its SH3 domain and (iii) it is tyrosine-phosphorylated by Src. Both interaction among these proteins and tyrosine phosphorylation of DMPK are increased under oxidative stress, and Src inhibition selectively enhances death in DMPK-expressing cells after HK II detachment from the mitochondria. Down-modulation of DMPK abolishes the appearance of muscle markers in in vitro myogenesis, which is rescued by oxidant scavenging. Our data indicate that, together with HK II and Src, mitochondrial DMPK is part of a multimolecular complex endowed with antioxidant and pro-survival properties that could be relevant during the function and differentiation of muscle fibers.


Assuntos
Hexoquinase/metabolismo , Mitocôndrias/enzimologia , Proteínas Serina-Treonina Quinases/metabolismo , Espécies Reativas de Oxigênio/metabolismo , Quinases da Família src/metabolismo , Morte Celular , Inativação Gênica , Humanos , Isoenzimas/metabolismo , Fibras Musculares Esqueléticas/metabolismo , Miotonina Proteína Quinase , Fosforilação , Ligação Proteica , Superóxidos/metabolismo
16.
Rev. esp. investig. oftalmol ; 3(3): 148-150, jul.-sept. 2013.
Artigo em Espanhol | IBECS | ID: ibc-117537

RESUMO

La patología ocular de causa ocupacional constituye un problema económico y social mayor a pesar de las medidas de prevención que obligan la utilización de equipos de protección. Según el Grupo para el Estudio Multicéntrico de los Traumatismos Oculares en España (GEMTO), los accidentes laborales suponen la primera causa de traumatismo ocular, representando el 23,2% del total. Las heridas oculares relacionadas con el medio laboral ocurren con mayor frecuencia en la industria de los metales. La prevalencia de la patología oftalmológica en el medio laboral es mayor en varones con una edad media de 35 años. Los soldadores tienen más riesgo de padecer cataratas que otros tipos de trabajadores. Los equipos de protección utilizados constantemente podrían prevenir 2/3 de los accidentes laborales. Por esto, las medidas preventivas tienen que ser enfocadas en utilizar la protección ocular adecuada constantemente durante el trabajo (AU)


The ocular pathology of occupational cause is a major economic and social problem despite the protective measures which recommend the use of protective equipment. According to The Group for the Multicentric Study of Ocular Trauma in Spain, work related accidents are the first cause of ocular trauma , representing 23,2% of the total. Ocular injuries related to the work environment are demonstrated to be more frequent in the metal industry. The prevalence of the ophthalmological pathology in the work related environment is more frequent in men with the medium age of 35 years. The welders have a higher risk of developing cataracts comparing to other workers. The constant use of protective equipment could prevent 2/3 of the work related accidents. Therefore the protective measures have to be focused in the constant usage of ocular protection during the activity (AU)


Assuntos
Humanos , Doenças Profissionais/epidemiologia , Oftalmopatias/epidemiologia , Acidentes de Trabalho/prevenção & controle , Exposição Ocupacional/estatística & dados numéricos , Dispositivos de Proteção dos Olhos , Catarata/epidemiologia , Doenças Retinianas/epidemiologia
17.
Cell Death Dis ; 4: e770, 2013 Aug 15.
Artigo em Inglês | MEDLINE | ID: mdl-23949219

RESUMO

Myotonic dystrophy type-1 (DM1) is the most prevalent form of muscular dystrophy in adults. This disorder is an RNA-dominant disease, caused by expansion of a CTG repeat in the DMPK gene that leads to a misregulation in the alternative splicing of pre-mRNAs. The longer muscleblind-like-1 (MBNL1) transcripts containing exon 5 and the respective protein isoforms (MBNL142-43) were found to be overexpressed in DM1 muscle and localized exclusively in the nuclei. In vitro assays showed that MBNL142-43 bind the Src-homology 3 domain of Src family kinases (SFKs) via their proline-rich motifs, enhancing the SFK activity. Notably, this association was also confirmed in DM1 muscle and myotubes. The recovery, mediated by an siRNA target to Ex5-MBNL142-43, succeeded in reducing the nuclear localization of both Lyn and MBNL142-43 proteins and in decreasing the level of tyrosine phosphorylated proteins. Our results suggest an additional molecular mechanism in the DM1 pathogenesis, based on an altered phosphotyrosine signalling pathway.


Assuntos
Músculos/metabolismo , Distrofia Miotônica/genética , Proteínas Nucleares/metabolismo , Proteínas de Ligação a RNA/genética , Proteínas de Ligação a RNA/metabolismo , Quinases da Família src/metabolismo , Adulto , Estudos de Casos e Controles , Diferenciação Celular , Núcleo Celular/metabolismo , Regulação da Expressão Gênica , Humanos , Modelos Biológicos , Fibras Musculares Esqueléticas/metabolismo , Fibras Musculares Esqueléticas/patologia , Músculos/patologia , Proteínas Nucleares/genética , Fosforilação , Fosfotirosina/metabolismo , Ligação Proteica , Isoformas de Proteínas/genética , Isoformas de Proteínas/metabolismo , Transporte Proteico , RNA Interferente Pequeno/metabolismo , Domínios de Homologia de src
18.
Rev. esp. investig. oftalmol ; 3(2): 77-79, abr.-jun. 2013. ilus, graf
Artigo em Espanhol | IBECS | ID: ibc-117521

RESUMO

OBJETIVO. Hacer un análisis cuantitativo y cualitativo de las urgencias oftalmológicas que se presentaron en el servicio de urgencias del Hospital Xeral-Cies en un periodo de 6 meses que abarcó desde el 1 de julio de 2012 hasta 31 de diciembre de 2012. MATERIAL Y MÉTODOS. Estudio retrospectivo observacional que incluyó a 1875 pacientes atendidos por nuestro servicio de urgencias. Todos los datos se recogieron de las historias clínicas del sistema informático IANUS de los casos atendidos durante el periodo de estudio. RESULTADOS. De los 1875 pacientes, 1195 acudieron por la mañana y 680 por la tarde durante el periodo de estudio. La patología más frecuente diagnosticada en nuestro servicio en las urgencias por la mañana es la patología inflamatoria e infecciosa, mientras que por la tarde la patología traumática se convierte en el principal motivo de consulta. CONCLUSIONES. No existen muchos estudios publicados sobre este tema, de ahí la necesidad de investigar más para un mejor conocimiento y manejo de las urgencias oftalmológicas(AU)


OBJECTIVE. The purpose is to make a quantitative and qualitative analysis of the ophthalmological emergencies which were attended in the emergency department of Hospital Xeral-Cies from 1 of July 2012 to 31 of December 2012. MATERIAL AND METHODS. Retrospective and observational study that included 1875 patients attended in our emergency department. All data were gathered from the clinical histories that were found in the computerized system of IANUS from the study period. RESULTS. From 1875 patients, 1195 came to the emergency department during the morning and 680 came during the rest of the day in the study period. The most frequent pathology during the morning visits was the infectious and inflammatory pathology while during the rest of the day the traumatic eye pathology was the principal reason for the visit. CONCLUSIONS. There are not many studies published regarding this subject therefore the need to investigate more for a better knowledge and handle of the ophthalmological emergencies (AU)


Assuntos
Humanos , Oftalmopatias/epidemiologia , Serviços Médicos de Emergência/estatística & dados numéricos , Tratamento de Emergência/métodos , Infecções Oculares/epidemiologia , Traumatismos Oculares/epidemiologia , Inflamação/epidemiologia
19.
Rev. Fac. Nac. Salud Pública ; 30(1): 17-25, ene.-abr. 2012. ilus, tab
Artigo em Espanhol | LILACS, COLNAL | ID: lil-650057

RESUMO

OBJETIVO: Caracterizar el comportamiento de la mortalidad por cáncer de pulmón, estómago y próstata en los adultos mayores de la ciudad de Medellín en el periodo 2002 - 2006. METODOLOGIA: Estudio descriptivo con fuente de información secundaria, a partir del análisis de 2809 registros de defunciones por cáncer de pulmón, estómago y próstata en personas mayores de 65 años. El análisis fue univariado y bivariado, se acompañó de pruebas estadísticas y con una confiabilidad del 95%. Se calcularon: tasas de mortalidad promedio y específica, por diez mil habitantes adultos mayores. RESULTADOS: El riesgo más alto de fallecer por cáncer de pulmón fue en el año 2003, con una tasa de 20,27; para cáncer de estómago, el riesgo mayor se presentó en el año 2002, con 11,88; y el riesgo mayor para cáncer de próstata fue el año 2006, con 9,35 por diez mil habitantes. En los tres tipos de cáncer, la tasa de mortalidad promedio en el tiempo fue de 37,1 siendo la segunda causa de muerte después del infarto agudo del miocardio. DISCUSION: El cáncer de pulmón, estómago y próstata representan un riesgo para los adultos mayores; a mayor longevidad mayor riesgo. Este estudio constituye un aporte al estado de la cuestión acerca de las causas de muerte de la persona mayor.


OBJECTIVE: to describe the behavior of lung, stomach, and prostate cancer mortality among the elderly in the city of Medellin from 2002 to 2006. METHODOLOGY: a descriptive study with a secondary information source. The study was conducted based on the analysis of 2809 records of deaths from lung, stomach, and prostate cancer in people over 65 years. The analysis was univariate and bivariate. Additionally, it was accompanied by statistical tests and had a reliability of 95 %. The average and specific mortality rates were calculated per ten thousand elderly individuals. RESULTS: the risk of dying from lung cancer was at its highest value in 2003, with a rate of 20.27; for stomach cancer, the greatest risk was observed in 2002, with 11.88; finally, 2006 was the year with the highest risk for prostate cancer, with 9.35 per ten thousand inhabitants. For the three types of cancer, the average mortality rate over time was 37.1. Thus, cancer is the second leading cause of death after acute myocardial infarction. DISCUSSION: lung, stomach, and prostate cancer pose a risk to the elderly. Moreover, the risk increases as the individuals age. This study contributes to the state of the art of the research on causes of death among the elderly.


Assuntos
Humanos , Idoso , Neoplasias da Próstata , Neoplasias Gástricas , Idoso , Mortalidade , Neoplasias Pulmonares
20.
Gene Ther ; 19(4): 355-64, 2012 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-21716300

RESUMO

Mucopolysaccharidosis type I (MPSI) is an autosomic recessive, lysosomal storage disorder due to the deficit of the enzyme α-L-iduronidase (IDUA). The disease accounts for a general impairment of tissue and organ functions, mainly including heart disease, corneal clouding, organomegaly, skeletal malformations and joint stiffness. Neurological deterioration affects the severe forms. Both haemopoietic stem cell transplantation and enzyme replacement therapy can be applied to the treatment of the disorder; however, they both present several limitations. Thus, the search for alternative strategies to complement the present procedures is highly desirable. A murine myoblast cell line engineered to overexpress IDUA was generated and enclosed in alginate microcapsules, which were intra-peritoneally implanted in the MPSI mouse model. Plasma and tissue enzyme activity induced by the treatment and urinary and tissue glycosaminoglycan content were monitored in the animals, progressively sacrificed up to 4 months after implantation. Significant induction of enzyme activity and reduction of glycosaminoglycan accumulation were detected in the implanted animals, complete normalization of deposits was achieved in two animals. Intra-peritoneal implantation of alginate microcapsule confirms to be a valid approach as an endogenous enzyme replacement procedure.


Assuntos
Cápsulas , Terapia Genética/métodos , Iduronidase/genética , Mucopolissacaridose I/terapia , Mioblastos , Alginatos , Animais , Linhagem Celular , Transplante de Células , Modelos Animais de Doenças , Ácido Glucurônico , Glicosaminoglicanos/metabolismo , Ácidos Hexurônicos , Camundongos , Camundongos Endogâmicos C57BL , Mioblastos/metabolismo , Peritônio/metabolismo
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