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1.
Fish Shellfish Immunol ; 92: 802-812, 2019 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-31284047

RESUMEN

Like other ciliates, Philasterides dicentrarchi, the scuticociliate parasite of turbot, produces a feeding-only or growing stage called a trophont during its life cycle. Exposure of the trophonts to heat-inactivated serum extracted from the turbot host and containing specific antibodies that induce agglutination/immobilization leads to the production of a mucoid capsule from which the trophonts later emerge. We investigated how these capsules are generated, observing that the mechanism was associated with the process of exocytosis involved in the release of a matrix material from the extrusomes. The extruded material contains mucin-like glycoproteins that were deposited on the surface of the cell and whose expression increased with time of exposure to the heat-inactivated immune serum, at both protein expression and gene expression levels. Stimulation of the trophonts with the immune serum also caused an increase in discharge of the intracellular storage compartments of calcium necessary for the exocytosis processes in the extrusomes. The results obtained suggest that P. dicentrarchi uses the extrusion mechanism to generate a physical barrier protecting the ciliate from attack by soluble factors of the host immune system. Data on the proteins involved and the potential development of molecules that interfere with this exocytic process could contribute to improving the prevention and control of scuticociliatosis in turbot.


Asunto(s)
Infecciones por Cilióforos/veterinaria , Enfermedades de los Peces/inmunología , Peces Planos , Inmunidad Humoral/inmunología , Oligohimenóforos/fisiología , Animales , Infecciones por Cilióforos/inmunología , Infecciones por Cilióforos/parasitología , Enfermedades de los Peces/parasitología
2.
Parasitology ; 144(10): 1394-1411, 2017 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-28552088

RESUMEN

Scuticociliatosis is a severe disease in farmed flatfish. However, the causative agent is not always accurately identified. In this study, we identified two isolates of scuticociliates from an outbreak in cultured fine flounder Paralichthys adspersus. Scuticociliate identification was based on morphological data, examination of life stages and the use of molecular approaches. The isolates were compared with a strain of Philasterides dicentrachi from turbot Scophthalmus maximus and with a strain deposited in the American Type Culture Collection as Miamiensis avidus ATCC® 50180™. The use of morphological, biological and molecular methods enabled us to identify the isolates from the fine flouder as P. dicentrarchi. Comparison of P. dicentrachi isolates and M. avidus revealed some differences in the buccal apparatus. Unlike P. dicentrarchi, M. avidus has a life cycle with three forms: macrostomes (capable of feeding on P. dicentrarchi), microstomes and tomites. Additionally, we found differences in the 18S rRNA and α- and ß-tubulin gene sequences, indicating that P. dicentrarchi and M. avidus are different species. We therefore reject the synonymy/conspecificity of the two taxa previously suggested. Finally, we suggest that a combination of morphological, biological, molecular (by multigene analysis) and serological techniques could improve the identification of scuticociliates parasites in fish.

3.
Exp Parasitol ; 169: 59-68, 2016 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-27480055

RESUMEN

The scuticociliatosis is a very serious disease that affects the cultured turbot, and whose causal agent is the anphizoic and marine euryhaline ciliate Philasterides dicentrarchi. Several protozoans possess acidic organelles that contain high concentrations of pyrophosphate (PPi), Ca(2+) and other elements with essential roles in vesicular trafficking, pH homeostasis and osmoregulation. P. dicentrarchi possesses a pyrophosphatase (H(+)-PPase) that pumps H(+) through the membranes of vacuolar and alveolar sacs. These compartments share common features with the acidocalcisomes described in other parasitic protozoa (e.g. acid content and Ca(2+) storage). We evaluated the effects of Ca(2+) and ATP on H (+)-PPase activity in this ciliate and analyzed their role in maintaining intracellular pH homeostasis and osmoregulation, by the addition of PPi and inorganic molecules that affect osmolarity. Addition of PPi led to acidification of the intracellular compartments, while the addition of ATP, CaCl2 and bisphosphonates analogous of PPi and Ca(2+) metabolism regulators led to alkalinization and a decrease in H(+)-PPase expression in trophozoites. Addition of NaCl led to proton release, intracellular Ca(2+) accumulation and downregulation of H(+)-PPase expression. We conclude that the regulation of the acidification of intracellular compartments may be essential for maintaining the intracellular pH homeostasis necessary for survival of ciliates and their adaptation to salt stress, which they will presumably face during the endoparasitic phase, in which the salinity levels are lower than in their natural environment.


Asunto(s)
Infecciones por Cilióforos/veterinaria , Enfermedades de los Peces/parasitología , Peces Planos/parasitología , Pirofosfatasa Inorgánica/metabolismo , Oligohimenóforos/enzimología , Adenosina Trifosfato/fisiología , Animales , Western Blotting , Calcio/fisiología , Infecciones por Cilióforos/metabolismo , Infecciones por Cilióforos/parasitología , Enfermedades de los Peces/enzimología , Enfermedades de los Peces/metabolismo , Técnica del Anticuerpo Fluorescente , Concentración de Iones de Hidrógeno , Pirofosfatasa Inorgánica/genética , Ratones , Ratones Endogámicos ICR , Microscopía Electrónica de Transmisión , Oligohimenóforos/fisiología , Oligohimenóforos/ultraestructura , Concentración Osmolar , Reacción en Cadena en Tiempo Real de la Polimerasa , Proteínas Recombinantes/metabolismo , Saccharomyces cerevisiae/enzimología , Saccharomyces cerevisiae/genética , Salinidad
4.
J Pediatric Infect Dis Soc ; 11(11): 510-513, 2022 Dec 05.
Artículo en Inglés | MEDLINE | ID: mdl-36057109

RESUMEN

Blood cultures are the gold standard for detecting bacteremia. We have studied the time to positivity of blood cultures in our neonatal unit to reduce antibiotic doses in patients with a negative blood culture. Empirical antibiotic treatment of neonatal sepsis could be withdrawn 24 hours after obtaining blood cultures.


Asunto(s)
Bacteriemia , Sepsis Neonatal , Recién Nacido , Humanos , Cultivo de Sangre , Bacteriemia/diagnóstico , Bacteriemia/tratamiento farmacológico , Sepsis Neonatal/diagnóstico , Sepsis Neonatal/tratamiento farmacológico , Antibacterianos/uso terapéutico
5.
Rev. int. med. cienc. act. fis. deporte ; 24(94): 1-16, jan. 2024. tab, ilus
Artículo en Inglés | IBECS (España) | ID: ibc-230939

RESUMEN

The aim of the research study is to assess the cardiovascular health benefits related to football in Brazilian adolescents. By assisting teenagers in maintaining a healthy body weight and lowering their risk of cardiovascular problems linked to obesity, these physical activities help control weight. Football regularly is also associated with better blood pressure control and advantageous metabolic profiles. For measuring the research, used smart PLS software and described results, including descriptive statistics, correlation coefficient analysis, and the smart PLS Algorithm model. In addition to their physiological advantages, team sports promote cardiovascular health due to their psychological benefits, including lowered stress levels and enhanced mental health. However, current studies carried out in the area should be examined to provide exact insights into the cardiovascular advantages in adolescents from Brazil. The overall result found that direct and significant analysis of the cardiovascular health benefits of football in Brazilian adolescents. As a result, even though the body of research highlights the potential benefits of football for youth cardiovascular health, more study that focuses on particular regions will be necessary to fully comprehend the connection between youth football participation and cardiovascular health in Brazil (AU)


Asunto(s)
Humanos , Adolescente , Capacidad Cardiovascular/fisiología , Fútbol/fisiología , Salud del Adolescente
6.
Sci Rep ; 9(1): 13329, 2019 09 16.
Artículo en Inglés | MEDLINE | ID: mdl-31527617

RESUMEN

Philasterides dicentrarchi is a free-living microaerophilic scuticociliate that can become a facultative parasite and cause a serious parasitic disease in farmed fish. Both the free-living and parasitic forms of this scuticociliate are exposed to oxidative stress associated with environmental factors and the host immune system. The reactive oxygen species (ROS) generated by the host are neutralized by the ciliate by means of antioxidant defences. In this study we aimed to identify metalloenzymes with superoxide dismutase (SOD) activity capable of inactivating the superoxide anion (•O2-) generated during induction of oxidative stress. P. dicentrarchi possesses the three characteristic types of SOD isoenzymes in eukaryotes: copper/zinc-SOD, manganese-SOD and iron-SOD. The Cu/Zn-SOD isoenzymes comprise three types of homodimeric proteins (CSD1-3) of molecular weight (MW) 34-44 kDa and with very different AA sequences. All Cu/Zn-SODs are sensitive to NaCN, located in the cytosol and in the alveolar sacs, and one of them (CSD2) is extracellular. Mn- and Fe-SOD transcripts encode homodimeric proteins (MSD and FSD, respectively) in their native state: a) MSD (MW 50 kDa) is insensitive to H2O2 and NaN3 and is located in the mitochondria; and b) FSD (MW 60 kDa) is sensitive to H2O2, NaN3 and the polyphenol trans-resveratrol and is located extracellularly. Expression of SOD isoenzymes increases when •O2- is induced by ultraviolet (UV) irradiation, and the increase is proportional to the dose of energy applied, indicating that these enzymes are actively involved in cellular protection against oxidative stress.


Asunto(s)
Mitocondrias/metabolismo , Oligohimenóforos/enzimología , Oligohimenóforos/metabolismo , Superóxido Dismutasa/metabolismo , Superóxidos/química , Secuencia de Aminoácidos/genética , Animales , Enfermedades de los Peces/parasitología , Peces Planos/parasitología , Peróxido de Hidrógeno/metabolismo , Peróxido de Hidrógeno/toxicidad , Ratones , Ratones Endogámicos ICR , Oligohimenóforos/genética , Estrés Oxidativo/fisiología , Resveratrol/toxicidad , Azida Sódica/toxicidad , Superóxido Dismutasa/genética , Superóxido Dismutasa/aislamiento & purificación , Rayos Ultravioleta
7.
Orphanet J Rare Dis ; 12(1): 155, 2017 09 15.
Artículo en Inglés | MEDLINE | ID: mdl-28915903

RESUMEN

BACKGROUND: We aim to delineate the progression of cerebellar syndrome in children with phosphomannomutase-deficiency (PMM2-CDG) using the International Cooperative Ataxia Rating Scale (ICARS). We sought correlation between cerebellar volumetry and clinical situation. We prospectively evaluated PMM2-CDG patients aged from 5 to 18 years through ICARS at two different time points set apart by at least 20 months. We reviewed available MRIs and performed volumetric analysis when it was possible. RESULTS: From the eligible 24, four patients were excluded due to severe mental disability (n = 2) and supratentorial lesions (n = 2). Two different ICARS evaluations separated by more than 20 months were available for 14 patients showing an improvement in the cerebellar syndrome: ICARS1: 35.71 versus ICARS2: 30.07 (p < 0.001). When we considered time, we saw an improvement of 2.64 points in the ICARS per year with an SD of 1.97 points (p < 0.001). The ICARS subscales results improved with time, reaching statistical significance in "Posture and gait" (p < 0.001), "Kinetic functions" (p = 0.04) and "Speech abnormalities" (p = 0.045). We found a negative correlation between the ICARS results and total cerebellar volume (r = -0.9, p = 0.037) in a group of five patients with available volumetric study, meaning that the higher the ICARS score, the more severe was the cerebellar atrophy. CONCLUSIONS: Our study shows a stabilization or mild improvement in the cerebellar functions of paediatric PMM2-CDG patients despite cerebellar volume loss. ICARS is a valid scale to quantify the evolution of cerebellar syndrome in PMM2-CDG patients. The availability of ICARS and other reliable and sensitive follow-up tools may prove essential for the evaluation of potential therapies.


Asunto(s)
Enfermedades Cerebelosas/diagnóstico , Enfermedades Cerebelosas/enzimología , Fosfotransferasas (Fosfomutasas)/deficiencia , Adolescente , Enfermedades Cerebelosas/patología , Niño , Preescolar , Femenino , Humanos , Masculino , Neuroimagen , Fosfotransferasas (Fosfomutasas)/genética
8.
Neurology ; 88(11): 1012-1020, 2017 Mar 14.
Artículo en Inglés | MEDLINE | ID: mdl-28202703

RESUMEN

OBJECTIVE: To report the clinical features, comorbidities, receptor subunit targets, and outcome in patients with anti-GABAA receptor (GABAAR) encephalitis. METHODS: Clinical study of 26 patients, including 17 new (April 2013-January 2016) and 9 previously reported patients. Antibodies to α1, ß3, and γ2 subunits of the GABAAR were determined using reported techniques. RESULTS: Patients' median age was 40.5 years (interquartile range 48.5 [13.75-62.35] years; the youngest 2.5 months old; 13 female). Symptoms included seizures (88%), alteration of cognition (67%), behavior (46%), consciousness (42%), or abnormal movements (35%). Comorbidities were identified in 11 (42%) patients, including 7 tumors (mostly thymomas), 2 herpesvirus encephalitis (herpes simplex virus 1, human herpesvirus 6; coexisting with NMDAR antibodies), and 2 myasthenia without thymoma. Brain MRI was abnormal in 23 (88%) patients, showing in 20 (77%) multifocal, asynchronous, cortical-subcortical T2/fluid-attenuated inversion recovery abnormalities predominantly involving temporal (95%) and frontal (65%) lobes, but also basal ganglia and other regions. Immunologic or tumor therapy resulted in substantial improvement in 18/21 (86%) assessable patients; the other 3 (14%) died (2 status epilepticus, 1 sepsis). Compared with adults, children were more likely to have generalized seizures (p = 0.007) and movement disorders (p = 0.01) and less likely to have a tumor (p = 0.01). The main epitope targets were in the α1/ß3 subunits of the GABAAR. CONCLUSIONS: Anti-GABAAR encephalitis is characterized by frequent seizures and distinctive multifocal cortical-subcortical MRI abnormalities that provide an important clue to the diagnosis. The frequency of symptoms and comorbidities differ between children (more viral-related) and adults (more tumor-related). The disorder is severe but most patients respond to treatment.


Asunto(s)
Anticuerpos/sangre , Anticuerpos/líquido cefalorraquídeo , Encefalitis/inmunología , Receptores de GABA-A/inmunología , Adolescente , Adulto , Animales , Encéfalo/metabolismo , Trastornos del Conocimiento/etiología , Estado de Conciencia , Encefalitis/metabolismo , Encefalitis/terapia , Femenino , Células HEK293 , Humanos , Inmunoterapia , Imagen por Resonancia Magnética , Masculino , Persona de Mediana Edad , Trastornos del Movimiento/etiología , Ratas , Receptores de GABA-A/genética , Receptores de GABA-A/metabolismo , Estudios Retrospectivos , Convulsiones/etiología , Transfección , Adulto Joven
9.
Pediatr. aten. prim ; 23(92): 417-419, oct.- dic. 2021. tab
Artículo en Español | IBECS (España) | ID: ibc-222902

RESUMEN

La corea de Sydenham es como se denomina el cuadro de origen neurológico consistente en agitación y movimientos anormales que ocurre en contexto de una fiebre reumática, secundariamente a la infección por estreptococo del grupo A. Dado que la incidencia de fiebre reumática ha disminuido significativamente en los últimos años, las complicaciones asociadas pueden considerarse actualmente excepcionales. No obstante, dado que presenta un pronóstico excelente si se instaura precozmente el tratamiento, es muy importante saber reconocer el cuadro clínico (AU)


Sydenham’s chorea, with a documented relationship with group A streptococcal infections, is the one of the most common acquired movement disorder of adolescence. However, rheumatic fever´s incidence is significantly lower than years ago. The clinical picture is very characteristic, and its recognition is essential in order to improve the prognostic starting an specific treatment as soon as possible (AU)


Asunto(s)
Humanos , Femenino , Niño , Corea/diagnóstico , Corea/tratamiento farmacológico , Penicilinas/administración & dosificación , Tomografía Computarizada por Rayos X , Imagen por Resonancia Magnética , Antiestreptolisina/sangre , Enfermedad Aguda
10.
Pediatr. catalan ; 81(3): 138-142, Juliol - Setembre 2021. tab, ilus
Artículo en Catalán | IBECS (España) | ID: ibc-218070

RESUMEN

Introducció. L’encefalomielitis aguda disseminada (EMAD) és una malaltia inflamatòria immunomediada desmielinitzant del sistema nerviós central. Associa simptomatologia neurològica multifocal i encefalopatia. Afecta fonamentalment la població infantil, amb una incidència anual estimada en menors de catorze anys del 0,64/100.000. El diagnòstic de l’EMAD és d’exclusió. Cas clínic. Lactant de quatre mesos, sana i amb neurodesenvolupament adequat, és portada a urgències per desviació lateral dreta de cap i coll. Associa quadre catarral sense febre. A les 48 hores de l’ingrés desenvolupa oftalmoplegia, sialorrea i nivell d’alerta alternant. Atesa l’aparició de simptomatologia neurològica, es deriva a centre de referència on s’amplia l’estudi etiològic. La ressonància magnètica (RM) cerebroespinal mostra alteració d’intensitat de senyal de tàlems, nuclis lenticulars i tronc de l’encèfal esquerre. Davant la sospita d’EMAD, rep tractament amb glucocorticoides i gammaglobulina. També rep biotina i tiamina a l’espera de l’estudi metabòlic. La RM cerebroespinal al cap de deu dies mostra reducció de les lesions. La recuperació dels dèficits neurològics dos mesos després és completa. Comentaris. La clínica, l’evolució i els estudis complementaris són suggestius d’EMAD. Les lesions típiques d’aquesta entitat a la RM afecten la substància blanca subcortical profunda de forma bilateral i asimètrica. També hi pot haver afectació de ganglis de base, tàlem i tronc de l’encèfal. El diagnòstic diferencial inclou encefalitis infecciosa, esclerosi múltiple i metabolopaties. La primera línia de tractament són els bols de glucocorticoides. La majoria de casos presenta recuperació completa. L’interès del cas exposat rau en l’edat de presentació. (AU)


Introducción. La encefalomielitis aguda diseminada (EMAD) es una enfermedad inflamatoria inmunomediada desmielinizante del sistema nervioso central. Asocia sintomatología neurológica multifocal y encefalopatía. Afecta fundamentalmente la población infantil con una incidencia anual estimada en menores de 14 años del 0,64/100.000. El diagnóstico de EMAD es de exclusión. Caso clínico. Lactante de 4 meses, sana y con adecuado neurodesarrollo, es traída a urgencias por desviación lateral derecha de cabeza y cuello; asocia cuadro catarral sin fiebre. A las 48 horas del ingreso desarrolla oftalmoplejía, sialorrea y nivel de alerta alternante. Dada la aparición de sintomatología neurológica, se deriva a centro de referencia donde se amplía el estudio etiológico. La resonancia magnética (RM) cerebroespinal muestra alteración de intensidad de señal de tálamos, núcleos lenticulares y tronco del encéfalo izquierdo. Ante la sospecha de EMAD, recibe tratamiento con glucocorticoides y gammaglobulina. También recibe biotina y tiamina a la espera del estudio metabólico. La RM cerebroespinal a los 10 días muestra reducción de las lesiones. La recuperación de los déficits neurológicos dos meses después es completa. Comentarios. La clínica, evolución y estudios complementarios son sugestivos de EMAD. Las lesiones típicas de esta entidad en la RM afectan la sustancia blanca subcortical profunda de forma bilateral y asimétrica. También puede haber afectación de ganglios de base, tálamo y tronco del encéfalo. El diagnóstico diferencial incluye encefalitis infecciosa, esclerosis múltiple y metabolopatías. La primera línea de tratamiento son bolus de glucocorticoides. La mayoría de casos presenta recuperación completa. El interés del caso expuesto radica en la edad de presentación. (AU)


Introduction. Acute disseminated encephalomyelitis (ADEM) is a demyelinating immune mediated inflammatory disease affecting the central nervous system. It associates multifocal neurological symptoms and encephalopathy. It predominantly affects children, and its annual cumulative incidence in children under 14 years is 0.64/100,000. The diagnosis of ADEM is one of exclusion. Case report. A previously healthy 4-month-old infant with adequate neurodevelopment was seen in the emergency department due to acute onset of right lateral deviation of head and neck, associated with cold symptoms without fever. 48 hours after admission, the infant developed ophthalmoplegia, sialorrhea and alternating alert level. Given the development of neurological symptoms, she was referred to a tertiary hospital for evaluation. Cerebrospinal magnetic resonance imaging (MRI) showed altered signal intensity of the thalamus, lenticular nuclei, and left brainstem. ADEM was suspected and glucocorticoids and gamma globulin were administered. She also received biotin and thiamine while awaiting results of a metabolic panel. Cerebrospinal MRI at 10 days showed improvement of the lesions, and a full recovery was reached after two months. Comments. The clinical presentation, diagnostic studies, and clinical evolution are suggestive of ADEM. Typical MRI lesions involve deep subcortical white matter bilaterally and asymmetrically. There may also be involvement of the basal ganglia, thalamus, and brainstem. Differential diagnosis includes infectious encephalitis, multiple sclerosis, and metabolic diseases. First line treatment are glucocorticoids. Most cases have complete recovery. The interest of the case lies in the age of presentation. (AU)


Asunto(s)
Humanos , Femenino , Lactante , Tortícolis/diagnóstico , Tortícolis/terapia , Encefalomielitis Aguda Diseminada/diagnóstico , Encefalomielitis Aguda Diseminada/terapia , Virosis/diagnóstico , Virosis/terapia
11.
Rev. psicol. clín. niños adolesc ; 7(2): 50-55, mayo 2020. tab
Artículo en Español | IBECS (España) | ID: ibc-193693

RESUMEN

La alta prevalencia de suicidio en población adolescente en todo el mundo supone un reto mundial en salud mental. El ambiente familiar ha sido señalado como una importante variable implicada en el riesgo de suicidio de los adolescentes, ejerciendo tanto de factor de riesgo como protector. El estudio tiene como objetivo entender qué variables del funcionamiento familiar de la Escala de Clima Social en la Familia se relacionan con la puntuación de la Escala de Ideación Suicida de Beck en una muestra 37 adolescentes entre 14 y 18 años (M = 15.76; DT = 1.07) con rasgos de personalidad límite. Se partió de la hipótesis de que peores niveles de funcionamiento familiar aumentarían el riesgo de suicidio. Los resultados mostraron que la ideación suicida era mayor cuando las puntuaciones en la escala Relaciones (calidad de la comunicación e interacción) en la familia eran menores. Al analizar cada escala, se demostró la importancia específica de la subescala Expresividad, referida al grado de expresión libre de los sentimientos en la familia de forma que, a menor expresividad en la familia, mayor ideación suicida presentaban los adolescentes, y la subescala Social-Recreativa, referida a la participación social y en actividades de ocio de la familia, de modo que a mayor participación social, menor riesgo suicida. Estos resultados son apoyados por otros estudios que demuestran la importancia de modificar el entorno familiar para influir en el riesgo suicida de los adolescentes. El valor de estos datos implica la consideración de incluir a las familias en los programas de tratamiento para adolescentes suicidas


High prevalence of suicide in adolescent population all over the world is considered a world challenge in mental health. Family environment has been pointed as an important factor involved in adolescents' suicide risk, playing a role not only as a risk factor but also as protective. This study has its goal on understanding which factors of the family functioning, measured by the Social Environment in the Family Scale, are related to the total score of the Beck Suicide Ideation Scale in a sample of 37 adolescents with ages between 14 and 17 years old (M = 15.76; SD = 1.06) borderline personality traits. It was hypothesized that worse levels of family functioning will increase suicide risk in adolescents. Results showed that the risk of suicide was higher when the Relationships Scale total score (quality of communication and interaction in the family) was lower. After analyzing each subscale separately, it was demonstrated the specific relevance of Expressivity Subscale, referred to the level of free expression of feelings in the family, suggesting that the lower expressivity in the family, the higher suicide ideation showed by the adolescents, and Social-Recreative, referred to the social participation and leisure of the family, what means the more social participation, the less suicide ideation. These results are supported by other studies that show the relevance of modifying the family environment for reducing the suicidal risk among adolescents. The value of this data involves taking into account the families in the treatment programs for suicidal adolescents


Asunto(s)
Humanos , Masculino , Femenino , Adolescente , Trastorno de Personalidad Limítrofe/psicología , Conducta del Adolescente/psicología , Ideación Suicida , Familia/psicología , Entrevista Psicológica , Factores de Riesgo
12.
Orphanet J Rare Dis ; 10: 138, 2015 Oct 26.
Artículo en Inglés | MEDLINE | ID: mdl-26502900

RESUMEN

BACKGROUND: Phosphomannomutase deficiency (PMM2-CDG) is the most frequent congenital disorder of glycosylation. The cerebellum is nearly always affected in PMM2-CDG patients, a cerebellar atrophy progression is observed, and cerebellar dysfunction is their main daily functional limitation. Different therapeutic agents are under development, and clinical evaluation of drug candidates will require a standardized score of cerebellar dysfunction. We aim to assess the validity of the International Cooperative Ataxia Rating Scale (ICARS) in children and adolescents with genetically confirmed PMM2-CDG deficiency. We compare ICARS results with the Nijmegen Pediatric CDG Rating Scale (NPCRS), neuroimaging, intelligence quotient (IQ) and molecular data. METHODS: Our observational study included 13 PMM2-CDG patients and 21 control subjects. Ethical permissions and informed consents were obtained. Three independent child neurologists rated PMM2-CDG patients and control subjects using the ICARS. A single clinician administered the NPCRS. All patients underwent brain MRI, and the relative diameter of the midsagittal vermis was measured. Psychometric evaluations were available in six patients. The Mann-Whitney U test was used to compare ICARS between patients and controls. To evaluate inter-observer agreement in patients' ICARS ratings, intraclass correlation coefficients (ICC) were calculated. ICARS internal consistency was evaluated using Cronbach's alpha. Spearman's rank correlation coefficient test was used to correlate ICARS with NPCRS, midsagittal vermis relative diameter and IQ. RESULTS: ICARS and ICARS subscores differed between patients and controls (p < 0.001). Interobserver agreement of ICARS was "almost perfect" (ICC = 0.99), with a "good" internal reliability (Cronbach's alpha = 0.72). ICARS was significantly correlated with the total NPCRS score (rs 0.90, p < 0.001). However, there was no agreement regarding categories of severity. Regarding neuroimaging, inverse correlations between ICARS and midsagittal vermis relative diameter (rs -0.85, p = 0.003) and IQ (rs -0.94, p = 0.005) were found. Patients bearing p.E93A, p.C241S or p.R162W mutations presented a milder phenotype. CONCLUSIONS: ICARS is a reliable instrument for assessment of PMM2-CDG patients, without significant inter-rater variability. Despite our limited sample size, the results show a good correlation between functional cerebellar assessment, IQ and neuroimaging. For the first a correlation between ICARS, neuroimaging and IQ in PMM2-CDG patients has been demonstrated.


Asunto(s)
Ataxia Cerebelosa/diagnóstico , Cerebelo/patología , Trastornos Congénitos de Glicosilación/diagnóstico , Fosfotransferasas (Fosfomutasas)/deficiencia , Índice de Severidad de la Enfermedad , Adolescente , Ataxia Cerebelosa/enzimología , Ataxia Cerebelosa/genética , Niño , Preescolar , Trastornos Congénitos de Glicosilación/enzimología , Trastornos Congénitos de Glicosilación/genética , Femenino , Humanos , Masculino , Fosfotransferasas (Fosfomutasas)/genética
13.
J Clin Psychiatry ; 75(6): 608-15, 2014 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-25004184

RESUMEN

OBJECTIVE: In this study, we assessed the efficacy of 2 pharmacodynamically different antidepressants, citalopram (a selective serotonin reuptake inhibitor) and reboxetine (a norepinephrine reuptake inhibitor), as adjunctive therapy to risperidone and olanzapine for the treatment of negative symptoms in schizophrenia. METHOD: We performed a 6-month, multicenter, double-blind, randomized, placebo-controlled clinical trial. The recruitment period was from November 2008 to December 2011.The sample comprised 90 patients with a diagnosis of schizophrenia (DSM-IV criteria) who exhibited negative symptoms. The patients were recruited from 10 centers in different cities of the Spanish State. The primary efficacy measure was change in score on the negative subscale of the Positive and Negative Syndrome Scale (PANSS) between baseline and 6-month assessment. Other efficacy measures were changes in the PANSS subscales and total score, as well as the Scale for the Assessment of Negative Symptoms (SANS) subscales and total score. RESULTS: For statistical analysis, we employed mixed-effects models. We did not find statistically significant differences between the placebo group and the 2 treatment groups at 6-month assessments for the PANSS total (P=.6511), any PANSS subscale (negative [P=.5533], positive [P=.1723], or general psychopathology [P=.2083]), or the SANS (P= .5884). Cohen d measure showed a small effect size below the 0.5 threshold for all comparisons. CONCLUSIONS: In conclusion, our results do not support adjunctive use of citalopram or reboxetine with risperidone or olanzapine for the treatment of negative symptoms in schizophrenia. TRIAL REGISTRATION: ClinicalTrials.gov identifier: NCT01300364.


Asunto(s)
Antidepresivos/uso terapéutico , Antipsicóticos/uso terapéutico , Benzodiazepinas/uso terapéutico , Citalopram/uso terapéutico , Depresión/tratamiento farmacológico , Morfolinas/uso terapéutico , Risperidona/uso terapéutico , Esquizofrenia/tratamiento farmacológico , Psicología del Esquizofrénico , Adulto , Antipsicóticos/efectos adversos , Benzodiazepinas/efectos adversos , Citalopram/efectos adversos , Depresión/diagnóstico , Método Doble Ciego , Quimioterapia Combinada , Femenino , Humanos , Masculino , Persona de Mediana Edad , Morfolinas/efectos adversos , Olanzapina , Escalas de Valoración Psiquiátrica , Reboxetina , Risperidona/efectos adversos , Esquizofrenia/diagnóstico
14.
Arch. med. deporte ; 30(157): 260-270, sept.-oct. 2013. tab, graf
Artículo en Inglés | IBECS (España) | ID: ibc-124154

RESUMEN

Objetivo: Estudiar las sustancias prohibidas detectadas en todos los laboratorios europeos según su distribución regional y numérica, así como su posible correlación con los resultados de los deportistas europeos. Métodos: Se han estudiado las estadísticas de los 20 laboratorios europeos acreditados por la Agencia Mundial Anti-Dopaje en los años 2003-2008 para los 11 grupos de sustancias. Para valorar la relación entre los 20 laboratorios y las sustancias se ha usado un análisis estadístico multivariable, método usado en el estudio y predicción de accidentes laborales. Se realizó un análisis de independencia (Chi2) y de los residuales categorizados corregidos de Haberman para establecer la dependencia entre algunos laboratorios y sustancias. Se calcularon las distancias de Minkowski de potencia 3 para establecer grupos de perfiles similares. Resultados: Los hallazgos analíticos adversos en los laboratorios europeos muestran una distribución muy heterogéna y se encuentran importantes diferencias en las sustancias detectadas en los diversos laboratorios. A pesar de las limitaciones del estudio, los principales hallazgos fueron que la detección de los anabolizantes y sustancias relacionadas se encontró en los laboratorios de la zona europea central y del este de Europa (Austria, Praga, Colonia, Polonia, Rusia y Turquía) y la detección de hormonas se encontró en los laboratorios de países mediterráneos (Roma, Barcelona y Madrid). Conclusiones: Hay una intensa relación entre los resultados de los deportistas de especialidades de fuerza (halterofilia y lanzamientos) y la presencia de anabolizantes y sustancias relacionadas, en los países de la zona central y este de Europa, así como entre los resultados de los laboratorios de la zona mediterránea y el uso de hormans en ciclismo. Tener más datos, como las sustancias detectadas por deporte, permitiría un análisis de dopaje más preciso y tener en cuenta la distribución geográfica podría ayudar a implementar estrategias más específicas para combatir el dopaje (AU)


Objective: To study the prohibited substances detected in all the European laboratories according to their number and regional distribution and their possible correlation with the results of European athletes. Methods: The statistics from the 20 European laboratories accredited by the World Anti-Doping Agency have been studied for the years 2003-2008 and for the 11 groups of substances. To assess relationships between the 20 laboratories and the substances, we used a multivariate statistical analysis, a method used for the study and prediction of occupational accidents. An analysis of independence (chi-square) and Haberman Corrected Categorized Residuals were performed establishing the dependence between some laboratories and substances. Minkowski distances of power 3 were calculated to establish groups with similar profiles. Results: The adverse analytical findings in the European laboratories show a very heterogeneus distribution and we found major differences in the substances detected in different laboratories. Despite the limitations of the study, the main findings were that the detection of anabolic agents and related substances was associated to laboratories from Central and Eastern Europe (Austria, Prague, Cologne, Poland, Russia and Turkey) and the detection of hormones was associated to Mediterranean laboratories (Rome, Barcelona and Madrid).Conclusions: There is a close relationship between the results of the strength specialties (weightlifting and throwing) athletes and presence of anabolic steroids and related substances in the countries of Middle and East Europe, as well as between the results from the Mediterranean area laboratories and the use of hormones in cycling. Having more data, such as substances detected by sports, would allow more precise analysis of doping and taking into account the geographical distribution could help to implement more specific strategies to combat doping (AU)


Asunto(s)
Humanos , Doping en los Deportes/métodos , Sustancias para Mejorar el Rendimiento/análisis , Deportes/estadística & datos numéricos , Anabolizantes/uso terapéutico , Control de Medicamentos y Narcóticos , Detección de Abuso de Sustancias/métodos , Cannabinoides/análisis
15.
Arch. med. deporte ; 28(141): 9-20, ene.-feb. 2011. tab, graf
Artículo en Español | IBECS (España) | ID: ibc-102580

RESUMEN

Se ha partido de la hipótesis de que el análisis estadístico de los resultados de los hallazgos analíticos adversos de los laboratorios de control de dopaje acreditados aportaría datos sobre la utilización de sustancias dopantes en el deporte europeo. El objetivo del trabajo ha sido averiguar el patrón de detección de sustancias en los laboratorios europeos acreditados y la forma en que este patrón se reproducía en cada laboratorio. El fin último es buscar estrategias que puedan optimizar el conocimiento de las denominadas “zonas de riesgo” que define el Código Mundial Antidopaje. Se han estudiado las estadísticas de los 20 laboratorios europeos acreditados por la WADA-AMA correspondientes a los años 2003-2008 y los 11 grupos de sustancias sobre los 17.253 hallazgos analíticos adversos encontrados. Una vez calculado un patrón promedio de sustancias detectadas en los laboratorios acreditados se observa que éste no sólo no se cumple en la mayoría de los laboratorios sino que existen grandes diferencias entre la detección de sustancias en los diversos labotarorios europeos. Las relaciones positivas más importantes que se han encontrado han sido los glucorticosteroides y cannabinoides con el laboratorio de París, los anabolizantes con los de Varsovia, Praga, Colonia, Moscú, los cannabinoides con el de Gante, los estimulantes con los laboratorios de Londres y Gante, las hormonascon los de Lausana y Barcelona, y los Beta-2 agonistas con los de Madrid y Helsinki. A pesar de las limitaciones lógicas del estudio se concluye que los hallazgos analíticos adversos encontrados en los laboratorios europeos muestran una distribución muy heterogénea. Hay un predominio regional en los laboratorios del centro y este de Europa (Austria, Praga, Colonia, Polonia, Rusia y Turquía) en la detección de anabolizantes y sustancias relacionadas y que hay una relación negativa entre los cannabinoides y los laboratorios de la zona noroeste europea (Estocolomo, Colonia, Kreischa, Oslo, Helsinki, Varsovia, Praga y Moscú) (AU)


We started from the assumption that the statistical analysis of adverse analytical findings from the accredited laboratories for doping control should provide data about the use of doping in Europe. The aim of this study was to determine the pattern of detection of different substances in European accredited laboratories and to assess if this pattern is replicated in each of them. The final objective was to find strategies to optimize the knowledge of so-called “risk areas” as defined by the World Anti-Doping Code. The statistics from the 20 European laboratories accredited by WADA-AMA have been studied for the years 2003-2008 and for the 11 groups of substances in the 17.253 adverse analytical findings. Once an average pattern of substances was calculated for the total of accredited laboratories, we observe that it was not true for most of them individually. Even more, there were major differences in the substances detected in different European laboratories. The most significant relationships were glucorticosteroids and cannabinoids with the laboratory of Paris; anabolics with Warsaw, Prague, Cologne and Moscow; cannabinoids with Ghent; stimulants with London and Ghent; hormones with Lausanne and Barcelona, and Beta-2 agonists with Madrid and Helsinki. Despite the limitations of the study, we conclude that the adverse analytical findings in European laboratories have a very different distribution. There is a regional predominance for the detection of anabolic steroids and related substances in the laboratories from Central and Eastern Europe (Austria, Prague, Cologne, Poland, Russia and Turkey). There is a negative relationship between cannabinoids and laboratories in the northwest Europe (Stockholm, Cologne, Kreischa, Oslo, Helsinki, Warsaw, Prague and Moscow) (AU)


Asunto(s)
Humanos , Acreditación de Instituciones de Salud , Doping en los Deportes/métodos , Laboratorio Oficial , Detección de Abuso de Sustancias/normas , Relaciones Interinstitucionales , Anabolizantes/análisis , Trastornos Relacionados con Opioides/diagnóstico , Cannabinoides/análisis
16.
Rev. cuba. salud pública ; 17(1): 15-9, ene.-jun. 1991. tab
Artículo en Español | LILACS | ID: lil-102610

RESUMEN

Se analiza el comportamiento de los costos de un legrado uterino y la actividad asistencial de la sala, en el cuatrienio 1983-1986. El estudio se realizó en el Servicio de Ginecología del Hospital Ginecoobstétrico Docente Provincial "Mariana Grajales" de Santa Clara. En él se proponen una serie de medidas administrativas con el objetivo de reducir los costos de un legrado. Se registró un costo de $24,33 en 1983 y una reducción en los dos últimos años analizados de $18,39 y $17,27


Asunto(s)
Aborto Inducido , Costos y Análisis de Costo
17.
Rev. cuba. adm. salud ; 10(4): 313-24, oct.-dic. 1984. tab
Artículo en Español | LILACS | ID: lil-33355

RESUMEN

Se proponen indicadores de gastos por pacientes ginecológicos de algunos productos relacionados como materiales de curaciones, termómetros, jeringuillas y antibióticos. El estudio se realizó en el servicio de ginecología del hospital ginecoobstétrico provincial docente "Mariana Grajales" de Santa Clara, en 1982. Se plantean medidas organizativas y económicas en el ahorro mediante un plan de los productos señalados, se hace un análisis de los costos hospitalarios que contemplan estos epígrafes y la utilidad de las medidas y normas de gastos propuestos. Los objetivos fundamentales de este trabajo son contribuir al conocimiento de las demandas que se operan en el orden económico y perfeccionar el sistema de dirección y planificación de la economía. Se formulan conclusiones


Asunto(s)
Economía Hospitalaria , Servicio de Ginecología y Obstetricia en Hospital/organización & administración , Costos y Análisis de Costo , Administración de Materiales de Hospital
18.
Rev. cuba. salud pública ; 14(2): 39-45, abr.-jun. 1988. tab
Artículo en Español | LILACS | ID: lil-118705

RESUMEN

Se propone una serie de medidas administrativas para la reducción de los costos hospitalarios en el epigrafe de materiales de curaciones y medicamentos. El estudio realizado en el Servicio de Ginecología del Hospital Ginecoobstétrico de Santa Clara contempla la introducción de normas unitarias por pacientes, de productos seleccionados de importación cuyo control sistemático logre disminuir los gastos por estos conceptos


Asunto(s)
Ahorro de Costo , Economía Hospitalaria , Administración de Materiales de Hospital/economía , Costos de los Medicamentos , Servicio de Ginecología y Obstetricia en Hospital
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