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1.
Artículo en Inglés | MEDLINE | ID: mdl-28833787

RESUMEN

This study investigated the efficacy of post-treatment hydrotherapy as supportive care for management of persistent/long-lasting dermatologic adverse events (dAEs) induced in breast cancer survivors by adjuvant therapy, and its impact on quality of life (QoL). Patients in complete remission after standardised (neo)adjuvant chemotherapy, surgery and radiotherapy combination treatment for infiltrating HR+/HER2-breast carcinoma were enrolled in this randomised, multicentre controlled study 1-5 weeks after completing radiotherapy. The control group (CG, n = 33) received best supportive care and the treatment group (HG, n = 35) received 3-weeks of specific hydrotherapy. The primary criterion was change in QoL (QLQ-BR23) after hydrotherapy. Clinical grading of dAEs, cancer-related QoL (QLQ-C30), dermatologic QoL (DLQI) and general psychological well-being (PGWBI) were assessed. Significant dAEs were found at inclusion in both groups (n = 261). Most items showed significantly greater improvement in the HG versus CG group: QLQ-BR23 (breast [p = .0001] and arm symptoms [p = .0015], systemic therapy side effects [p = .0044], body image [p = .0139]), some dAE grading, DLQI (p = .0002) and PGWBI (p = .0028). Xerosis (88% of patients at inclusion) completely healed in all HG patients. Specific hydrotherapy is an effective supportive care for highly prevalent and long-lasting dAEs occurring after early breast cancer treatment, including chemotherapy, and leads to improved QoL and dermatologic toxicities.


Asunto(s)
Neoplasias de la Mama/terapia , Carcinoma/terapia , Quimioterapia Adyuvante/efectos adversos , Hidroterapia/métodos , Mastectomía , Radioterapia Adyuvante/efectos adversos , Cuidados de la Piel/métodos , Enfermedades de la Piel/terapia , Adulto , Antineoplásicos/efectos adversos , Protocolos de Quimioterapia Combinada Antineoplásica/efectos adversos , Inhibidores de la Aromatasa/efectos adversos , Ciclofosfamida/efectos adversos , Docetaxel , Emolientes/uso terapéutico , Epirrubicina/efectos adversos , Femenino , Fluorouracilo/efectos adversos , Hormona Liberadora de Gonadotropina/agonistas , Síndrome Mano-Pie/etiología , Síndrome Mano-Pie/terapia , Humanos , Hiperpigmentación/etiología , Hiperpigmentación/terapia , Linfedema/etiología , Linfedema/terapia , Drenaje Linfático Manual/métodos , Masaje/métodos , Persona de Mediana Edad , Terapia Neoadyuvante/efectos adversos , Prurito/etiología , Prurito/terapia , Calidad de Vida , Radiodermatitis/etiología , Radiodermatitis/terapia , Enfermedades de la Piel/etiología , Tamoxifeno/uso terapéutico , Taxoides/efectos adversos
2.
J Healthc Qual Res ; 39(2): 100-108, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38402092

RESUMEN

INTRODUCTION AND OBJECTIVE: Physicians find it difficult to take on the role of the patient and they show unusual behaviors when ill. One of these behaviors is presenteeism, which is working while sick. The objective of this research is to analyze the factors that contribute to the phenomenon of presenteeism in Spanish physicians. MATERIAL AND METHODS: Mixed methodology study: one national survey through the General Council of Medical Associations website (quantitative part), 22 semistructured interviews with sick residents and practicing physicians, and three focus groups involving professionals from the occupational health services (qualitative). A bivariate analysis using parametric and non-parametric tests. The significance level was p<0.05 (95% confidence interval). Qualitative analysis using the comparative-constant method until saturation of information. RESULTS: Presenteeism is reported by 89.4% of doctors who responded to the survey, and it is more common among women. Contributing factors include fear of overburdening colleagues (the main reason and more common among women 58.14% vs 48.35%), self-perception of doing one's duty (the second reason and more common among men, 44.63% vs 33.14%) and economic impact and difficulty in accepting the role of a sick person. This behavior has an impact on patient safety, and is part of the hidden curriculum that also affects the training of medical professionals. CONCLUSIONS: Presenteeism is a widespread and accepted practice among medical professionals. Although normalized, and even appreciated as a way to avoid overburdening colleagues, presenteeism has important implications for clinical ethics and patient safety.


Asunto(s)
Médicos , Presentismo , Masculino , Humanos , Femenino , Estudios Transversales , Encuestas y Cuestionarios , Miedo
3.
J Healthc Qual Res ; 38(3): 165-179, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-36549947

RESUMEN

INTRODUCTION AND OBJECTIVES: Physicians' health is a key element for quality healthcare. Medical professionals have difficulty accepting their role as patients and it might be different among sexes. The aim was to describe behaviours and attitudes of doctors towards their own illness. MATERIALS AND METHODS: An online survey was launched through the General Council of Medical Associations webpage for all Spanish registered doctors. A bivariate analysis by sex was performed for all the questionnaire variables using parametric and non-parametric tests. The significance level was p<0.05 (95% confidence interval). RESULTS: A total of 4,308 registered doctors (1,858 men and 2,450 women) answered. Women were younger, single, and worked mainly in non-surgical specialities in the public sector. Men were older, married, and worked more frequently in public-private practice. Women had less chronic conditions, except for anxiety disorders (11.52% vs 15.18%). Both sexes, especially women, primarily self-treated (94.29% vs 95.02%), went to work while ill (88.16% vs 90.29%), visited their GP (56% vs 70%), and half of them underwent annual occupational health checks (40% vs 48%). Women self-prescribed more analgesics (93.43% vs 95.63%), more presenteeism (88% vs 90%) and felt more insecure when treating sick fellows (9.96% vs 20.12%) and requested training for it. More women agreed to make deontological recommendations about doctors' health (91.55% vs 96.16%) and considered revalidation may contribute to improve doctors' health (65.29% vs 66.16%). CONCLUSIONS: Male and female doctors show illness-health behaviours and attitudes at work to improve. There are differences among male and female doctors. Regarding, medical feminization, ethical recommendations may be of benefit regarding doctors' health-illness issues and considering gender perspective.


Asunto(s)
Actitud del Personal de Salud , Médicos , Humanos , Masculino , Femenino , Encuestas y Cuestionarios
4.
J Healthc Qual Res ; 37(6): 349-356, 2022.
Artículo en Inglés | MEDLINE | ID: mdl-35676170

RESUMEN

Physicians have not learned their role as patients. Health programmes for doctors are focused on mental health. Nevertheless, anomalous behaviours of ill doctors exist independently of health problems. We present a study to describe behaviour and attitudes of doctors towards their own illness (CAMAPE) including the analysis of questionnaire validation. MATERIAL AND METHODS: A mix methodology study based on semi-structured interviews to ill physicians and focus groups with members of medical colleges, occupational medicine services and doctors of ill doctors was performed. A survey was designed. Survey validation process included content and face validity, construct validity through exploratory and confirmatory factor analysis and reliability by Cronbach's Alpha Index. RESULTS: A total of 27 interviews to ill doctors and 4 focus group were performed. Content and feasibility assessment was made by experts. Psychometric validation was performed with a sample of 4308 answers (2450 women, 56.87%). A 5-factor (F) model explained 78.08% variance. First factor (F1) "The work might worsen health". Second (F2) "Mental issues, toxic habits and the impact of a bad health on work performance"; Third (F3) presenteeism and sick leaves; Fourth (F4) the handling of an ill colleague and the role of medical colleges. Fifth (F5) the healthcare pathway and potential value of revalidation in medical profession. CONCLUSIONS: A comprehensive mixed study on the process of physicians becoming ill has been launched with a reliable questionnaire in a large sample of registered doctors. The analysis will help to formulate gender-sensitive policy and ethical recommendations in relation to sick doctors given the progressive feminisation of the medical profession.


Asunto(s)
Médicos , Humanos , Femenino , Reproducibilidad de los Resultados , Médicos/psicología , Encuestas y Cuestionarios , Actitud del Personal de Salud , Análisis Factorial
5.
Bull Entomol Res ; 99(6): 583-91, 2009 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-19889254

RESUMEN

Culicoides imicola is the main vector for bluetongue (BT) and African horse sickness (AHS) viruses in the Mediterranean basin and in southern Europe. In this study, we analysed partial mitochondrial cytochrome c oxidase subunit I (COI) gene to characterize and confirm population expansion of Culicoides imicola across Spain. The data were analysed at two hierarchical levels to test the relationship between C. imicola haplotypes in Spain (n = 215 from 58 different locations) and worldwide (n = 277). We found nineteen different haplotypes within the Spanish population, including 11 new haplotypes. No matrilineal subdivision was found within the Spanish population, while western and eastern Mediterranean C. imicola populations were very structured. These findings were further supported by median networks and mismatch haplotype distributions. Median networks demonstrated that the haplotypes we observed in the western Mediterranean region were closely related with one another, creating a clear star-like phylogeny separated only by a single mutation from eastern haplotypes. The two, genetically distinct, sources of C. imicola in the Mediterranean basin, thus, were confirmed. This type of star-like population structure centred around the most frequent haplotype is best explained by rapid expansion. Furthermore, the proposed northern expansion was also supported by the statistically negative Tajima's D and Fu's Fs values, as well as predicted mismatch distributions of sudden and spatially expanding populations. Our results thus indicated that C. imicola population expansion was a rapid and recent phenomenon.


Asunto(s)
Ceratopogonidae/fisiología , Complejo IV de Transporte de Electrones/genética , Variación Genética , Migración Animal , Animales , Ceratopogonidae/clasificación , Ceratopogonidae/genética , Complejo IV de Transporte de Electrones/química , Haplotipos , Densidad de Población , Análisis de Secuencia de ADN , España
6.
Anim Genet ; 39(3): 294-7, 2008 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-18355397

RESUMEN

Bone morphogenetic protein 15 (BMP15) is a member of the transforming growth factor beta superfamily, is specifically expressed in oocytes and is essential for sheep prolificacy. Reported mutations in this gene cause increased ovulation rate and infertility in a dosage-sensitive manner. In this work, a new naturally occurring mutation in the BMP15 gene from the ovine Rasa Aragonesa breed is described. This mutation is a deletion of 17 bp that leads to an altered amino acid sequence and introduces a premature stop codon in the protein. Highly significant associations (P < 0.0001) were found between the estimated breeding value for prolificacy and the genotype of BMP15 in Rasa Aragonesa animals with high and low breeding values for this trait. As for other mutations in BMP15, this new mutation is associated with increased prolificacy and sterility in heterozygous and homozygous ewes respectively.


Asunto(s)
Fertilidad/genética , Infertilidad Femenina/genética , Péptidos y Proteínas de Señalización Intercelular/genética , Eliminación de Secuencia , Ovinos/genética , Animales , Codón de Terminación , Femenino , Factor 9 de Diferenciación de Crecimiento , Embarazo
7.
Theriogenology ; 70(2): 241-7, 2008 Jul 15.
Artículo en Inglés | MEDLINE | ID: mdl-18495235

RESUMEN

Sex specific sequence variability of the amelogenin gene has been used for sex determination in the family of Bovidae. In our study, suitability and reliability of the amelogenin gene for ovine sex determination in embryos was studied. The specificity of the method was previously demonstrated by testing 579 blood samples from several Spanish sheep breeds (161 males and 198 females). No amplification failures and very high agreement between genotypic and phenotypic sex was found (578/579), in contrast to humans, where errors in sex determination has been reported because of mutations in AMELX or AMELY genes. However, one female animal showed a male genotypic sex, being the most plausible explanation that a recombination event has happened during the meiosis. In our study only 0.17% (1/579) of the samples tested has been misdiagnosed using the amelogenin gene. Finally, 1-10 cells from each of 67 compact morulae were aspirated through the zona pellucida, and genotyped for sex determination. The efficiency in sex determination was 95 and 98% when more than two and more than three cells were sampled, respectively. The total time required for the genetic test, was less than 4h. These results confirm that the amelogenin gene can be used for rapid sex determination in ovine embryos, with a high efficiency and accuracy (100%) when three or more cells are sampled, allowing transferring sexed fresh embryos in MOET programmes. To our knowledge, this was the first time that sex determination using the amelogenin gene was performed in ovine embryos.


Asunto(s)
Amelogenina/genética , Análisis para Determinación del Sexo/veterinaria , Ovinos/embriología , Animales , ADN , Femenino , Genoma , Masculino , Sensibilidad y Especificidad
8.
Theriogenology ; 113: 63-72, 2018 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-29475126

RESUMEN

The aim of this study was to characterize and identify causative SNPs in the MTNR1A gene responsible for the reproductive seasonality traits in the Rasa aragonesa sheep breed. A total of 290 ewes (155, 84 and 51 mature, young and ewe lambs, respectively) from one flock were controlled from January to August. The following three reproductive seasonality traits were considered: the total days of anoestrus (TDA) and the progesterone cycling months (P4CM); both ovarian function seasonality traits based on blood progesterone levels; and the oestrus cycling months (OCM) based on oestrous detection, which indicate behavioural signs of oestrous. We have sequenced the total coding region plus 733 and 251 bp from the promoter and 3'-UTR regions, respectively, from the gene in 268 ewes. We found 9 and 4 SNPs associated with seasonality traits in the promoter (for TDA and P4CM) and exon 2 (for the three traits), respectively. The SNPs located in the gene promoter modify the putative binding sites for various trans-acting factors. In exon 2, two synonymous SNPs affect RFLP sites, rs406779174/RsaI (for the three traits) and rs430181568/MnlI (for OCM), and they have been related with seasonal reproductive activity in previous association studies with other breeds. SNP rs400830807, which is located in the 3'-UTR, was associated with the three traits, but this did not modify the putative target sites for ovine miRNAs according to in silico predictions. Finally, the SNP rs403212791 (NW_014639035.1: g.15099004G > A), which is also associated with the three seasonality phenotypes, was the most significant SNP detected in this study and was a non-synonymous polymorphism, leading a change from an Arginine to a Cysteine (R336C). Haplotype analyses confirmed the association results and showed that the effects found for the seasonality traits were caused by the SNPs located in exon 2. We have demonstrated that the T allele in the SNP rs403212791 in the MNTR1A gene is associated with a lower TDA and higher P4CM and OCM values in the Rasa Aragonesa breed.


Asunto(s)
Regulación de la Expresión Génica/fisiología , Polimorfismo de Nucleótido Simple , Receptor de Melatonina MT1/metabolismo , Reproducción/genética , Estaciones del Año , Ovinos/genética , Animales , Haplotipos , Desequilibrio de Ligamiento , Regiones Promotoras Genéticas , Receptor de Melatonina MT1/genética , Reproducción/fisiología , Ovinos/fisiología
9.
Cytogenet Genome Res ; 114(1): 39-43, 2006.
Artículo en Inglés | MEDLINE | ID: mdl-16717448

RESUMEN

On the basis of fine mapping of a quantitative trait loci region of BTA3 for milk fat content, an examination of the comparative map between cattle and human indicates that the annexin 9 protein gene (ANXA9) and the fatty acid transport protein type 3 gene (SLC27A3) are two strong candidate genes. The objective of the present study is to isolate, map and characterize these genes and identify polymorphisms that could be further utilized in linkage or association studies. Furthermore, two new genes which are in the same region, cingulin protein gene (CGN) and lysophosphatidic acid phosphatase protein gene (ACP6) were studied. DNA fragments (869, 1778, 1933 and 2618 bp) corresponding to partial sequences of ACP6,CGN,ANXA9 and SLC27A3 genes were isolated. Direct sequencing of PCR products amplified from different cattle breeds revealed 1, 4, 4 and 2 SNPs for ACP6, CGN,ANXA9 and SLC27A3, respectively. For ANXA9 one SNP was located in exon 5 (A-->G 951) resulting in an amino acid change from histidine to arginine. Finally, ACP6,CGN,ANXA9 and SLC27A3 genes were located on chromosome 3 between ILSTS096 and BMS819 markers, in a region in which quantitative trait loci (QTL) for several milk traits have been described.


Asunto(s)
Anexinas/genética , Mapeo Cromosómico , Proteínas de Transporte de Ácidos Grasos/genética , Proteínas de la Membrana/genética , Monoéster Fosfórico Hidrolasas/genética , Polimorfismo de Nucleótido Simple , Sitios de Carácter Cuantitativo , Regiones no Traducidas 3' , Animales , Secuencia de Bases , Bovinos , Cartilla de ADN , Exones , Reacción en Cadena de la Polimerasa
11.
Annu Int Conf IEEE Eng Med Biol Soc ; 2016: 5725-5728, 2016 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-28269555

RESUMEN

Brain-computer interface (BCI) driven electrical stimulation has been proposed for neuromodulation for stroke rehabilitation by pairing intentions to move with somatosensory feedback from electrical stimulation. Movement intentions have been detected in several studies using different techniques, with temporal and spectral features being the most common. A few studies have compared temporal and spectral features, but conflicting results have been reported. In this study, the aim was to investigate if complexity measures can be used for movement intention detection and to compare the detection performance based on features extracted from three different domains (time, frequency and complexity) from single-trial EEG. Two data sets were used where four different isometric palmar grasps or dorsiflexions were performed while continuous EEG was recorded. 39 healthy subjects performed or imagined these movements and 11 stroke patients attempted to perform the movements. The EEG was pre-processed and divided into two epoch classes: Background EEG (2 s) and movement intention (2 s). To obtain an estimated detection performance, temporal, spectral and complexity features were extracted and classified (linear discriminant analysis) after the feature vector was reduced using sequential forward selection. The results show that accuracies between 82-87% and 74-80% are obtained for foot and hand movements, respectively. The temporal feature domain was the most dominant for foot movement intention detection, while the spectral features contributed more to the hand movement detection. The complexity features could be used to detect movement intentions, but the performance was much lower compared to temporal and spectral features.


Asunto(s)
Interfaces Cerebro-Computador , Intención , Movimiento , Rehabilitación de Accidente Cerebrovascular/métodos , Adolescente , Adulto , Análisis Discriminante , Electroencefalografía , Femenino , Pie/fisiología , Mano/fisiología , Humanos , Imaginación , Masculino , Adulto Joven
12.
Arch Soc Esp Oftalmol ; 90(7): 344-7, 2015 Jul.
Artículo en Español | MEDLINE | ID: mdl-25443190

RESUMEN

CASE REPORT: A 4 year-old girl was referred to our hospital after have suffered a severe accident. The patient was diagnosed with complete third nerve palsy in her right eye and Purtscher retinopathy in her left eye. DISCUSSION: Purtscher retinopathy is a rare condition. The diagnosis is made on clinical ground and its treatment is not well defined although it is believed that systemic steroids could improve the visual outcome. Traumatic third nerve palsy has a poor spontaneous recovery. The use of botulinum toxin might be useful in children to improve the recovery rate, maintaining binocularity, and avoiding amblyopia in other cases.


Asunto(s)
Traumatismos Craneocerebrales/complicaciones , Traumatismo Múltiple/complicaciones , Enfermedades del Nervio Oculomotor/etiología , Hemorragia Retiniana/etiología , Atrofia , Toxinas Botulínicas Tipo A/uso terapéutico , Preescolar , Traumatismos Craneocerebrales/fisiopatología , Lesiones por Aplastamiento/complicaciones , Edema/etiología , Exotropía/tratamiento farmacológico , Exotropía/etiología , Anteojos , Femenino , Humanos , Mácula Lútea/patología , Enfermedades del Nervio Oculomotor/tratamiento farmacológico , Enfermedades del Nervio Óptico/etiología , Fracturas Orbitales/etiología , Retina/diagnóstico por imagen , Tomografía de Coherencia Óptica
14.
Rev Esp Enferm Dig ; 87(9): 681-3, 1995 Sep.
Artículo en Español | MEDLINE | ID: mdl-7577130

RESUMEN

"Ecstasy" or 3,4-methylenedioxymethylamphetamine, is a synthetic amphetamine which is increasingly consumed in Spain as a "recreational" drug. It has been associated with serious medical and psychiatric side effects, though, it is popularly considered, as a non dangerous drug. The development of acute hepatitis associated with the use of "ecstasy" has been reported by other authors from areas where its use is widely spread. We report the development of acute hepatitis associated with use of "ecstasy" in a young man with successful recovery and spontaneous resolution. In other cases the acute hepatitis may have a torpid evolution with slow resolution, fulminant liver failure, and death with hepatic encephalopathy, disseminated intravascular coagulation and adult distress syndrome. An idiosyncratic toxic hepatitis might be due to either 3,4-methylenedioxymethylamphetamine or a metabolite, a contaminant in 3,4-methylenedioxymethylamphetamine manufacture, or to an additive in tablet or capsule formulation.


Asunto(s)
Enfermedad Hepática Inducida por Sustancias y Drogas/etiología , Alucinógenos/efectos adversos , N-Metil-3,4-metilenodioxianfetamina/efectos adversos , Enfermedad Aguda , Adulto , Estudios de Seguimiento , Humanos , Masculino , Factores de Tiempo
15.
Rev Esp Enferm Dig ; 91(11): 769-76, 1999 Nov.
Artículo en Inglés, Español | MEDLINE | ID: mdl-10601770

RESUMEN

OBJECTIVES: to analyze retrospectively our hospital records on patients diagnosed during the period from 1983 to 1993 as having Crohn's disease or ulcerative colitis, and to estimate the incidence and epidemiological characteristics of these diseases in the Pamplona health administration area. METHODS: 246 patients were diagnosed has having inflammatory bowel disease (147 with ulcerative colitis, 97 with Crohn's disease, and 2 with indeterminate colitis. RESULTS: mean incidence was 2.47 +/- 0.96 per 100 000 inhabitants for Crohn's disease, and 3.75 +/- 1.5 per 100 000 inhabitants for ulcerative colitis (p < 0.05). There was a nonsignificant increase in incidence during the study period. Age, sex, alcohol intake, smoking habit and familial aggregation were analyzed. CONCLUSIONS: mean estimated incidence of Crohn's disease and ulcerative colitis in our setting during 1983-1993 was similar to that reported more recently for other parts of Spain. In our setting, ulcerative colitis was significantly more frequent that Crohn's disease, and familial aggregation was lower among patients who had the former disease. Crohn's disease was diagnosed at earlier ages, and cigarette smoking was more frequent among patients with this disease.


Asunto(s)
Colitis Ulcerosa/epidemiología , Enfermedad de Crohn/epidemiología , Adolescente , Adulto , Factores de Edad , Anciano , Anciano de 80 o más Años , Consumo de Bebidas Alcohólicas/efectos adversos , Niño , Preescolar , Estudios de Cohortes , Interpretación Estadística de Datos , Femenino , Humanos , Lactante , Recién Nacido , Masculino , Persona de Mediana Edad , Estudios Retrospectivos , Factores Sexuales , Fumar/efectos adversos , España/epidemiología
16.
Rev Neurol ; 33(2): 101-11, 2001.
Artículo en Español | MEDLINE | ID: mdl-11562866

RESUMEN

INTRODUCTION: The presence in neuroimaging of areas of symmetrical bilateral hypodensity in the basal ganglia (SBHBG) is a striking and unusual finding. OBJECTIVE: To determine the aetiology, clinical significance and evolution of a group of paediatric patients with SBHBG. PATIENTS AND METHODS: We made a study of 21 patients with neuroimaging studies (CT or MR) showing SBHBG. The affected area was related to the aetiology, clinical features and evolution. RESULTS: The ages varied between 4 months and 16 years. In 7 cases Leigh s disease was diagnosed, 5 had had acute hypoxia, 4 type I glutaric aciduria, and 1 case each of methylmalonic aciduria, Ia gluconeogenesis, CO intoxication, acute striatal necrosis and bacterial meningitis. The putamen was affected in 6 cases, globus pallidus in 4 cases and the lenticular nucleus was damaged in the rest. Three cases also had lesions in the caudate nucleus. MR was better than CT for localization of the precise area involved. Clinically, 13 cases had extrapyramidal signs. We found no relation between the size, localization of the lesion and the prognosis, which was more dependent on the aetiology, only one patient (CO intoxication) recovered and eight died (Leigh s disease and 1 case of hypoxia). CONCLUSIONS: The presence of SBHBG in a patient makes extensive study necessary to find the aetiology. It is a nonspecific finding, usually of metabolic origin and with little correlation with the clinical condition. Its presence implies a poor prognosis and raises suspicion of the presence of certain neurological disorders.


Asunto(s)
Enfermedades de los Ganglios Basales/patología , Ganglios Basales/patología , Encefalopatías Metabólicas/patología , Imagen por Resonancia Magnética , Tomografía Computarizada por Rayos X , Adolescente , Ganglios Basales/diagnóstico por imagen , Enfermedades de los Ganglios Basales/diagnóstico por imagen , Encefalopatías Metabólicas/diagnóstico por imagen , Intoxicación por Monóxido de Carbono/patología , Niño , Preescolar , Progresión de la Enfermedad , Femenino , Glutaratos/orina , Humanos , Hipoxia Encefálica/patología , Lactante , Enfermedad de Leigh/patología , Masculino , Malonatos/orina , Errores Innatos del Metabolismo/patología , Estudios Retrospectivos
17.
Rev Neurol ; 30(9): 837-41, 2000.
Artículo en Español | MEDLINE | ID: mdl-10870197

RESUMEN

INTRODUCTION: The association of cerebral leptomeningeal angioma and facial nevus flameus in the territory of the first branch of the trigeminal nerve ipsilateral to the angioma is known as the Sturge-Weber syndrome. The cases with absence of a facial angioma are usually considered to be variants of the syndrome. OBJECTIVE: To present four cases with occipital leptomeningeal angioma without facial angioma and describe the characteristics which differentiate them from or permit their inclusion within the group of Sturge-Weber syndrome, and also to establish the differences between this and the Gobbi syndrome (occipital cerebral calcifications, epilepsy and coeliac disease. CLINICAL CASES: We selected four cases in whom cranial magnetic resonance was done with intravenous gadolinium and three cases studied to rule out coeliac disease. The cerebral calcifications, unilateral in all four cases, were similar to those observed in the Sturge-Weber syndrome. All cases had leptomeningeal angiomas at the level of the cerebral calcification shown by the uptake of contrast material on magnetic resonance. Three patients had epilepsy but none had facial angiomas, hemiparesis or glaucoma. Coeliac disease was also ruled out, both on laboratory investigations and on intestinal biopsy. CONCLUSIONS: The cases described coincide with the Sturge-Weber syndrome in all having cerebral leptomeningeal angiomas. This differentiated them from the Gobbi syndrome which does not include meningeal angiomata. Another characteristic of the Sturge-Weber syndrome is the occurrence of epilepsy and mental deficiency. Whilst awaiting molecular genetic studies, our cases may be included semantically as a variant of the Sturge-Weber syndrome without the characteristic facial angioma, although they may possibly correspond to genetically different conditions.


Asunto(s)
Angiomatosis/diagnóstico , Encefalopatías/diagnóstico , Calcinosis/diagnóstico por imagen , Calcinosis/patología , Meninges/diagnóstico por imagen , Meninges/patología , Lóbulo Occipital/diagnóstico por imagen , Lóbulo Occipital/patología , Síndrome de Sturge-Weber/diagnóstico , Adolescente , Enfermedad Celíaca/diagnóstico , Niño , Diagnóstico Diferencial , Cara , Femenino , Humanos , Imagen por Resonancia Magnética , Masculino , Mancha Vino de Oporto/diagnóstico , Tomografía Computarizada por Rayos X
18.
Rev Neurol ; 29(2): 105-10, 1999.
Artículo en Español | MEDLINE | ID: mdl-10528319

RESUMEN

INTRODUCTION: The association of epilepsy, occipital cerebral calcifications and coeliac disease was recognized for the first time in 1992 by Gobbi as an independent syndrome. He emphasized that it occurred almost exclusively in persons of Italian origin. OBJECTIVE: To define the prevalence of this syndrome in the Spanish population with a view to confirming its probably genetic etiopathogenesis. PATIENTS AND METHODS: Neurological studies were done in 44 coeliac patients, as were cranial CT scans. All cases of Spanish origin described in the literature were noted. RESULTS: In the patients with coeliac disease there was an increased incidence of crises and generalized epilepsy, but no patient was found to have occipital calcifications. Only 12 cases of Spanish origin were found, mainly in the Canary Isles and Mediterranean littoral, in spite of the high incidence of coeliac disease in Spain. No familial cases were seen. CONCLUSIONS: We suspect a genetic etiopathogenesis, associated with different environmental factors, to be the origin of the syndrome. This is supported by the common geographical origin of most cases and the anatomopathological findings described in those cases studied.


Asunto(s)
Encefalopatías/diagnóstico por imagen , Encefalopatías/epidemiología , Calcinosis/diagnóstico por imagen , Calcinosis/epidemiología , Enfermedad Celíaca/complicaciones , Enfermedad Celíaca/epidemiología , Epilepsia/complicaciones , Epilepsia/epidemiología , Lóbulo Occipital/diagnóstico por imagen , Adolescente , Adulto , Niño , Electroencefalografía , Humanos , Vigilancia de la Población , España/epidemiología , Síndrome , Tomografía Computarizada por Rayos X
19.
An Otorrinolaringol Ibero Am ; 17(3): 287-95, 1990.
Artículo en Español | MEDLINE | ID: mdl-2118311

RESUMEN

Neural sheath tumors are rarely encountered in the oral cavity. The most common location is the tongue and thereafter, the sites in order of frequency are the buccal mucosa, the floor of the mouth, palate, lips and gingiva. The need to differentiate between Neurofibroma and Schwannoma is imperative in as much as the first one shows a much greater propensity for malignant transformation when associated with von Recklinghausen's neurofibromatosis. We present a case of Neurofibroma localized in the tongue which appeared as a sessile nodule of 0.3 X 0.4 cm. After extensive surgical ablation there was no further recurrence in 5 years follow-up.


Asunto(s)
Neurofibroma/diagnóstico , Neoplasias de la Lengua/diagnóstico , Diagnóstico Diferencial , Femenino , Humanos , Persona de Mediana Edad , Neurilemoma/diagnóstico , Neurofibroma/patología , Neurofibroma/cirugía , Neurofibromatosis 1/diagnóstico , Pronóstico , Neoplasias de la Lengua/patología , Neoplasias de la Lengua/cirugía
20.
An Otorrinolaringol Ibero Am ; 17(2): 203-12, 1990.
Artículo en Español | MEDLINE | ID: mdl-2161186

RESUMEN

Two benign tumors in the face are reported. Plasma cell granuloma is a rare benign tumor that affects people at all ages and most frequently involves the lung. It is dominated by mature plasma cell proliferation. The AA. report a case appearing as a painless nontender mass in the right cheek, with purplish discoloration of the overlying skin. Differential diagnosis with Plasmocytoma was considered. Histiocytoma are most common seen on the lower extremities of young adults. Reporting a case localized on the skin of the root of the nose. Differential diagnosis with osteoma is made.


Asunto(s)
Dermatosis Facial/patología , Neoplasias Faciales/patología , Granuloma de Células Plasmáticas/patología , Granuloma/patología , Histiocitoma Fibroso Benigno/patología , Neoplasias Cutáneas/patología , Anciano , Femenino , Humanos , Masculino
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