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1.
Ophthalmic Genet ; 40(2): 91-98, 2019 04.
Artigo em Inglês | MEDLINE | ID: mdl-30856043

RESUMO

BACKGROUND: Corneal Dystrophy and Perceptive Deafness (CDPD) or Harboyan syndrome is an autosomal recessive rare disorder, characterized by congenital corneal opacities and progressive sensorineural hearing loss, which usually begins after the second decades of life. This study reports the ophthalmic, audiological and genetic features, in five CDPD affected patients from three Chilean families. MATERIALS AND METHODS: Five individuals affected with CDPD from three unrelated Chilean families were clinically and genetically examined. To evaluate a putative founder mutation 7 SNPs were analyzed in the three families, an Argentinian patient (carrier of the same mutation previously reported) and 87 Chilean controls. RESULTS: The ophthalmic symptoms in the five patients were bilateral and symmetric, starting before one year of age, and visual acuity varied from 0.1 to 0.3. In all cases, hearing loss began over 8 years old. The sequence of the 19 exons of SLC4A11 gene of all the affected patients exhibited homozygous eight nucleotide sequence duplication (c.2233_2240dup TATGACAC, p.(Ile748Metfs*5)) at the end of exon 16. All the affected patients of the three families were homozygous for a haplotype composed of five SNPs and covering 4,1 Mb. The same haplotype was present in one allele of the heterozygous Argentinean patient and has a frequency of 2.76% in Chilean population. CONCLUSIONS: The five CDPD patients were homozygous for the same mutation in the SLC4A11 gene. Haplotype analysis of all the affected, including the case reported from Argentina was in accordance with a founder mutation.

2.
Int J Qual Health Care ; 30(4): 250-256, 2018 May 01.
Artigo em Inglês | MEDLINE | ID: mdl-29447352

RESUMO

Objective: To apply lean thinking in triage acuity level-3 patients in order to improve emergency department (ED) throughtput and waiting time. Design: A prospective interventional study. Setting: An ED of a tertiary care hospital. Participants: Triage acuity level-3 patients. Intervention(s): To apply lean techniques such as value stream mapping, workplace organization, reduction of wastes and standardization by the frontline staff. Main Outcome Measure(s): Two periods were compared: (i) pre-lean: April-September, 2015; and (ii) post-lean: April-September, 2016. Variables included: median process time (time from beginning of nurse preparation to the end of nurse finalization after doctor disposition) of both discharged and transferred to observation patients; median length of stay; median waiting time; left without being seen, 72-h revisit and mortality rates, and daily number of visits. There was no additional staff or bed after lean implementation. Results: Despite an increment in the daily number of visits (+8.3%, P < 0.001), significant reductions in process time of discharged (182 vs 160 min, P < 0.001) and transferred to observation (186 vs 176 min, P < 0.001) patients, in length of stay (389 vs 329 min, P < 0.001), and in waiting time (71 vs 48 min, P < 0.001) were achieved after lean implementation. No significant differences were registered in left without being seen rate (5.23% vs 4.95%), 72-h revisit rate (3.41% vs 3.93%), and mortality rate (0.23% vs 0.15%). Conclusion: Lean thinking is a methodology that can improve triage acuity level-3 patient flow in the ED, resulting in better throughput along with reduced waiting time.


Assuntos
Eficiência Organizacional , Serviço Hospitalar de Emergência/organização & administração , Triagem/organização & administração , Hospitais de Ensino , Humanos , Tempo de Internação/estatística & dados numéricos , Alta do Paciente/estatística & dados numéricos , Estudos Prospectivos , Espanha , Fatores de Tempo
3.
PLoS One ; 11(1): e0146620, 2016.
Artigo em Inglês | MEDLINE | ID: mdl-26788921

RESUMO

Seasonal influenza causes significant morbidity and mortality and has a substantial economic impact on the healthcare system. The main objective of this study was to compare the cost per patient for a rapid commercial PCR assay (Xpert® Flu) with an in-house real-time PCR test for detecting influenza virus. Community patients with influenza like-illness attending the Emergency Department (ED) as well as hospitalized patients in the Hospital Clínic of Barcelona were included. Costs were evaluated from the perspective of the hospital considering the use of resources directly related to influenza testing and treatment. For the purpose of this study, 366 and 691 patients were tested in 2013 and 2014, respectively. The Xpert® Flu test reduced the mean waiting time for patients in the ED by 9.1 hours and decreased the mean isolation time of hospitalized patients by 23.7 hours. This was associated with a 103€ (or about $113) reduction in the cost per patient tested in the ED and 64€ ($70) per hospitalized patient. Sensitivity analyses showed that Xpert® Flu is likely to be cost-saving in hospitals with different contexts and prices.


Assuntos
Serviço Hospitalar de Emergência , Vírus da Influenza A , Influenza Humana/sangue , Reação em Cadeia da Polimerase/métodos , Adulto , Feminino , Humanos , Influenza Humana/economia , Masculino , Reação em Cadeia da Polimerase/economia , Sensibilidade e Especificidade
4.
Sci Total Environ ; 532: 255-64, 2015 Nov 01.
Artigo em Inglês | MEDLINE | ID: mdl-26081728

RESUMO

In the field of water resources management, the Water Framework Directive is the first directive to adopt an ecosystem approach, establishing principles and economic tools for an integrated management of water resources to protect, conserve and restore all water bodies. The incorporation of local authorities in this management involves quality benefits that are perceived by users in an effective and lasting way. The purpose of this paper is to present the economic value of the environmental recovery of the overexploited Boquerón aquifer in Hellín (Albacete, SE Spain) and all of its associated ecosystems. This aquifer operates as a regulating reservoir for the surface waters of the Hellín Canal. The contingent valuation method (CVM) applied in this environmental assessment of the aquifer showed that its non-use value was €147,470 per year, due to the high environmental awareness of the Hellín people, which is enough to ensure the survival of the ecosystems linked to the aquifer.

6.
Depress Res Treat ; 2014: 608671, 2014.
Artigo em Inglês | MEDLINE | ID: mdl-24695633

RESUMO

In the last two decades, different research has demonstrated the high prevalence of childhood trauma, including sexual abuse, among depressive women. These findings are associated with a complex, severe, and chronic psychopathology. This can be explained considering the neurobiological changes secondary to early trauma that can provoke a neuroendocrine failure to compensate in response to challenge. It suggests the existence of a distinguishable clinical-neurobiological subtype of depression as a function of childhood trauma that requires specific treatments. Among women with depression and early trauma receiving treatment in a public mental health service in Chile, it was demonstrated that a brief outpatient intervention (that screened for and focused on childhood trauma and helped patients to understand current psychosocial difficulties as a repetition of past trauma) was effective in reducing psychiatric symptoms and improving interpersonal relationships. However, in this population, this intervention did not prevent posttraumatic stress disorder secondary to the extreme earthquake that occurred in February 2010. Therefore in adults with depression and early trauma, it is necessary to evaluate prolonged multimodal treatments that integrate pharmacotherapy, social support, and interpersonal psychotherapies with trauma focused interventions (specific interventions for specific traumas).

7.
Enferm. infecc. microbiol. clín. (Ed. impr.) ; 32(3): 152-159, mar. 2014. ilus, tab
Artigo em Espanhol | IBECS | ID: ibc-120774

RESUMO

Introducción: Las infecciones de piel y partes blandas (IPPB) son un motivo de consulta bastante frecuente en los servicios hospitalarios, y los casos que se complican requieren hospitalización. Sin embargo, hay escasos estudios en nuestro ámbito en los que se describan estas infecciones. Material y métodos Estudio observacional retrospectivo de los episodios con diagnóstico de foliculitis, celulitis, erisipela, abscesos, hidrosadenitis, forúnculo, impétigo, fascitis, mionecrosis y gangrena de Fournier extraídos de la base de datos de codificación diagnóstica del Servicio de Archivos y Documentación Clínica del Hospital Son Llàtzer desde enero de 2002 a noviembre de 2011.ResultadosSe estudiaron 996 episodios en 841 pacientes hospitalizados con algún diagnóstico de IPPB. La entidad diagnosticada con mayor frecuencia fue la celulitis/erisipela (66,7%); el origen de la IPPB era comunitario (77%) y la mayoría de pacientes presentaban comorbilidades, sobre todo diabetes (33%) e (..) (AU)


Introduction: Skin and soft-tissue infections (SSTIs) are a frequent cause of consultation in emergence services, and complicated cases require hospitalization. However there are few data in our setting about the clinical characteristics of these infections. Material and methods: A retrospective review of hospital admitted patients with a diagnosis of folliculitis, cellulitis, erysipelas, abscesses, hidradenitis, furuncle, impetigo, fasciitis and Fournier’s gangrene. Cases were extracted from the data base of diagnostic codes of the Archive and Clinical Documentation Department of Son Llàtzer Hospital from January 2002 to November 2011.Results: We studied 996 episodes in 841 hospitalized patients with any diagnosis of SSTIs. Cellulitis/erysipelas (66.7%) was the most frequently diagnosed condition, with 77% of all SSTIs being community acquired, and the majority of patients had comorbidities, mainly diabetes (33%) and heart failure(17.7%). The most frequent isolated microorganism was S.aureus (35.1%), in 19 (12.9%) cases with methicillin-resistance (MRSA), 84.2% of them were nosocomial or health care acquired. Monotherapywith aminopenicillin with clavulanic acid was the empiric treatment most frequently used (35.5%). Newantibiotics for Gram-positive cocci (linezolid, daptomycin, and tigecycline) were used in patients with comorbidities that presented more complications (P < .001) and more risk of mortality (P = .001). During admission 10.9% of patients died, but only in 2.7% of them mortality was related to the SSTIs. Conclusions: SSTIs attended most frequently in hospitalized patients are mainly cellulitis/erysipela, the majority community acquired. MRSA infections are mainly health care related. Use of new antibiotic for Gram-positive cocci was limited (AU)


Assuntos
Humanos , Infecção Hospitalar/epidemiologia , Infecções dos Tecidos Moles/epidemiologia , Dermatopatias Infecciosas/epidemiologia , Hospitalização/estatística & dados numéricos , Staphylococcus aureus Resistente à Meticilina/patogenicidade , Infecções Cutâneas Estafilocócicas/epidemiologia
8.
Enferm Infecc Microbiol Clin ; 32(3): 152-9, 2014 Mar.
Artigo em Espanhol | MEDLINE | ID: mdl-23683754

RESUMO

INTRODUCTION: Skin and soft-tissue infections (SSTIs) are a frequent cause of consultation in emergence services, and complicated cases require hospitalization. However there are few data in our setting about the clinical characteristics of these infections. MATERIAL AND METHODS: A retrospective review of hospital admitted patients with a diagnosis of folliculitis, cellulitis, erysipelas, abscesses, hidradenitis, furuncle, impetigo, fasciitis and Fournier's gangrene. Cases were extracted from the data base of diagnostic codes of the Archive and Clinical Documentation Department of Son Llàtzer Hospital from January 2002 to November 2011. RESULTS: We studied 996 episodes in 841 hospitalized patients with any diagnosis of SSTIs. Cellulitis/erysipelas (66.7%) was the most frequently diagnosed condition, with 77% of all SSTIs being community acquired, and the majority of patients had comorbidities, mainly diabetes (33%) and heart failure (17.7%). The most frequent isolated microorganism was S.aureus (35.1%), in 19 (12.9%) cases with methicillin-resistance (MRSA), 84.2% of them were nosocomial or health care acquired. Monotherapy with aminopenicillin with clavulanic acid was the empiric treatment most frequently used (35.5%). New antibiotics for Gram-positive cocci (linezolid, daptomycin, and tigecycline) were used in patients with comorbidities that presented more complications (P<.001) and more risk of mortality (P=.001). During admission 10.9% of patients died, but only in 2.7% of them mortality was related to the SSTIs. CONCLUSIONS: SSTIs attended most frequently in hospitalized patients are mainly cellulitis/erysipela, the majority community acquired. MRSA infections are mainly health care related. Use of new antibiotic for Gram-positive cocci was limited.


Assuntos
Dermatopatias Infecciosas , Infecções dos Tecidos Moles , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Feminino , Hospitalização , Humanos , Masculino , Pessoa de Meia-Idade , Prognóstico , Estudos Retrospectivos , Dermatopatias Infecciosas/diagnóstico , Dermatopatias Infecciosas/epidemiologia , Dermatopatias Infecciosas/microbiologia , Infecções dos Tecidos Moles/diagnóstico , Infecções dos Tecidos Moles/epidemiologia , Infecções dos Tecidos Moles/microbiologia , Adulto Jovem
9.
Psiquiatr. biol. (Internet) ; 19(1): 24-26, ene. 2012.
Artigo em Espanhol | IBECS | ID: ibc-100216

RESUMO

Las citopatías mitocondriales son enfermedades raras cuya fisiopatología común consiste en una disfunción del metabolismo energético mitocondrial. Comprometen especialmente a los tejidos muscular y cerebral debido a su alto metabolismo oxidativo, por lo que frecuentemente se les denomina «encefalomiopatías». Caso clínico. Mujer de 28 años, que a los 20 inicia un cuadro caracterizado por dificultad en la marcha y ptosis palpebral, diagnosticada de síndrome Kearns-Sayre. Es seguida ambulatoriamente tras presentar un episodio ansioso-depresivo. Método. Se realiza una exploración neuropsicológica con el fin de evaluar la situación cognitiva. Se administraron la Escala de Inteligencia de Wechler para Adultos (WAIS-III), el Test Barcelona Revisado y el Test de Clasificación de tarjetas de Wisconsin. Resultados. Los resultados revelan deterioro cognitivo a nivel general, que aparece invariablemente en todas las pruebas administradas. También se encuentran déficits específicos coherentes con los encontrados en estudios anteriores. Discusión. El interés del caso estriba en la creciente importancia de la exploración neuropsicológica en trastornos neurológicos que cursan con deterioro cognitivo y alteraciones psiquiátricas. Permite objetivar el grado de deterioro cognitivo global, así como dilucidar las funciones que de manera específica se encuentran afectadas. Ofrece un análisis detallado y ayuda a establecer una correlación entre los déficits y las áreas cerebrales implicadas, por lo que es un instrumento muy útil como complemento de las pruebas de neuroimagen. El perfil obtenido es de gran utilidad para elaborar programas de rehabilitación centrados en la estimulación y la recuperación de funciones alteradas. Se discute también su relación con los trastornos afectivos (AU)


Mitochondrial cytopathies are unusual diseases of which there are more than 50 variations. Their common pathophysiology involves a mitochondrial energy metabolism malfunction. Muscular and brain tissue are particularly affected due to their high oxidative metabolism, hence they are usually identified as «encephalomyopathies». Case report. A 28 year old woman, who, at the age of 20, presented with a gait disorder and drooping upper eye-lid, was diagnosed with Kearns-Sayre syndrome. After an anxious-depressive episode, she was followed up in the Outpatients of a Mental Health Centre with psychiatric and psychological treatment. Methods. Neuropsychological assessments were made to explore the cognitive state. We applied the Wechsler Adults Intelligence Scale (WAIS-III), the Revised Barcelona Test and the Wisconsin Card Sorting. Results. General cognitive impairment was found in all the tests administered. Specific cognitive impairments were also found which fitted in with those found in previous studies. Discussion. This case report emphasizes the increasing importance of neuropsychological assessment in neurological syndromes with cognitive impairments and psychiatric disturbances. It allows us to objectify the overall level of cognitive impairment and to establish a correlation between the deficits and the brain areas involved. The neuropsychological profile is very useful in future rehabilitation programs, focusing on stimulation and recovery of the affected cognitive areas. We discussed also her relationship with mood disorders (AU)


Assuntos
Humanos , Feminino , Adulto , Neuropsiquiatria/métodos , Neuropsiquiatria/tendências , Miopatias Mitocondriais/diagnóstico , Miopatias Mitocondriais/psicologia , Doenças Mitocondriais/diagnóstico , Transtornos do Humor/diagnóstico , Transtornos do Humor/fisiopatologia , Neuropsiquiatria/organização & administração , Miopatias Mitocondriais/fisiopatologia , Transtornos do Humor/psicologia , Psiquiatria Biológica/métodos , Psiquiatria Biológica/tendências , Neuropsicologia/métodos , Neuropsicologia/tendências , Transtorno do Deficit de Atenção com Hiperatividade/complicações , Transtorno do Deficit de Atenção com Hiperatividade/fisiopatologia
10.
Chem Commun (Camb) ; 47(37): 10281-3, 2011 Oct 07.
Artigo em Inglês | MEDLINE | ID: mdl-21860849

RESUMO

Reported herein is the discovery of a novel family of "clicked" estradiol-based LMWGs whose gelation ability highly depends on the gelator symmetry. These LMWGs that gel different organic solvents in the presence of H(2)O even at concentrations as low as 0.04 wt% are readily accessible using "click" chemistry.


Assuntos
Química Click , Estradiol/química , Géis , Modelos Moleculares , Conformação Molecular , Peso Molecular
11.
Chemistry ; 16(12): 3798-814, 2010 Mar 22.
Artigo em Inglês | MEDLINE | ID: mdl-20162657

RESUMO

Two parallel approaches for preparing diverse and highly symmetrical homohybrids derived from a series of mono- and diterpenes, steroids, and alkaloids are reported. Both procedures are based on the mono-addition of bis(alkynyl) dilithium reagents to natural products having a carbonyl group to produce the corresponding alkynyl derivatives. The Glaser-Hay Cu-promoted homocoupling of these alkynyl natural product mono-adducts as well as the Huisgen Cu-catalyzed azide-alkyne cycloaddition (CuAAC) reaction resulted in the synthesis of steroid-, terpene-, and alkaloid-based homohybrid derivatives incorporating diverse spacers to join the natural product scaffolds. Straightforward entries to novel closed highly symmetrical and complex estrone-based macrocyclic and cage architectures by means of the Glaser-Eglinton homocoupling and the CuAAC reaction have been devised.


Assuntos
Produtos Biológicos/química , Alcaloides/química , Alquinos/química , Catálise , Cobre/química , Ciclização , Lítio/química , Compostos Macrocíclicos/química , Esteroides/química , Terpenos/química
12.
Org Lett ; 10(16): 3555-8, 2008 Aug 21.
Artigo em Inglês | MEDLINE | ID: mdl-18646766

RESUMO

A straightforward approach to macrocycles having four estrone-derived nuclei by the sequential Cu-catalyzed Huisgen azide-alkyne cycloaddition-Glaser-Eglington Cu homocoupling has been developed. Due to its efficiency and simplicity, this sequence is useful for application to different natural product scaffolds.


Assuntos
Estrona/análogos & derivados , Estrona/síntese química , Compostos Macrocíclicos/síntese química , Alquinos/química , Azidas/química , Catálise , Cobre/química , Ciclização , Estrona/química , Compostos Macrocíclicos/química , Estrutura Molecular , Estereoisomerismo
13.
Todo hosp ; (236): 248-256, mayo 2007. ilus, tab
Artigo em Espanhol | IBECS | ID: ibc-61882

RESUMO

Los Servicios de Urgencias juegan un papel crítico en todas las comunidades. Las personas que tienen un problema de salud y no saben dónde acudir, suelen escoger las Urgencias como primera fuente de cuidados. Los problemas aparecen cuando el excesivo uso de los servicios de Urgencias acaba derivando en un colapso de los mismos, las Urgencias se saturan y es entonces cuando la calidad de la asistencia y la seguridad del paciente pueden quedar comprometidas. En este artículo se analizan los factores que pueden provocar el mencionado colapso (AU)


The Emergency Services play a critical role in all communities. People who have a health problem and don´t know where to go usually choose the Emergency Department as a first resource for nursing care. The problems appear when the excessive use of the Emergency Services leads to a collapse; they become saturated and this is when the quality of the care and safety of the patient may be jeopardized. This article analyses the factors which may cause such collapses (AU)


Assuntos
Humanos , Masculino , Feminino , Serviços Médicos de Emergência/organização & administração , Serviços Médicos de Emergência/tendências , /métodos , /organização & administração , Qualidade da Assistência à Saúde/organização & administração , Serviço Hospitalar de Emergência/organização & administração , Assistência ao Paciente/normas , Serviços de Saúde/normas , Emergências/epidemiologia , Medicina de Emergência/organização & administração , Serviço Hospitalar de Emergência/normas , Serviço Hospitalar de Emergência/tendências
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