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1.
J Dairy Sci ; 104(7): 7830-7844, 2021 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-33865581

RESUMEN

The aim of this study was to evaluate the effects of incorporating rice straw and orange leaves into the diets for goats. Ten Murciano-Granadina goats at mid lactation weighing 45 ± 0.3 kg were used in a crossover design. Two isoproteic and isoenergetic diets (180 g/kg DM and 17 MJ/kg DM, respectively) with alfalfa hay as forage source (33% of DM) were fed. A control diet (CON) incorporated barley as energy source and soy hulls as fiber component. The experimental diet (ORG) replaced barley and soy hulls with orange leaves (19% on DM basis), rice straw (12%, on DM basis) and soya oil (2%). Peas and horsebeans were the protein source in both diets. Each goat received the 2 treatments in 2 periods. Goats were fed the experimental diets and after 14 d on their respective treatments moved to individual metabolism cages for another 7 d. Subsequently, feed intake, total fecal and urine output and milk yield were recorded daily over the first 5 d. During the next 2 d ruminal fluid and blood samples were collected, and then individual gas-exchange measurements were recorded by a mobile open-circuit indirect calorimetry system using a head box. No differences in dry matter intake were detected, and apparent total-tract digestibility was greater in CON than ORG. Efficiency of metabolizable energy intake for milk and maintenance also was lower in response to ORG (0.65 vs. 0.63), with energy balance being negative (-12 kJ/kg of BW0.75) due to mobilization of fat (-16 g/animal vs. 68 g/animal for ORG and CON, respectively). Although actual milk yield was lower in goats fed ORG (2.32 vs. 2.06 kg/d, respectively), energy-corrected milk did not differ (2.81 kg/d on average). In terms of milk quality, milk fat content, and concentrations of monounsaturated (18.54 vs. 11.55 g/100 g milk fat) and polyunsaturated fatty acids (5.75 vs. 3.99 g/100 g milk fat) were greater in goats fed ORG. Based on various indices, the milk produced by ORG would be less atherogenic and thrombogenic than CON milk. Compared with CON, enteric CH4 emission was lower due to feeding ORG (reduction of 38 g CH4/kg milk fat). Data suggest that greater fat mobilization in goats fed ORG might have been due to the apparent lack of synchrony between degradable protein and carbohydrate and the lipogenic nutrients associated with the lower cereal content of the ORG diet. Thus, goats fed ORG seemed to rely more on fat depots to help meet energy requirements and reach optimal performance. As such, the lower content of glucogenic nutrients in ORG did not favor body fat deposition and partitioning of ME into body tissue. Overall, responses in terms of CH4 emissions and milk quality suggest that inclusion of rice straw and orange leaves in diets for small ruminants could be a valuable alternative to reuse, recycle and revalue agricultural by-products.


Asunto(s)
Citrus sinensis , Oryza , Animales , Dieta/veterinaria , Digestión , Femenino , Cabras , Lactancia , Metano , Leche , Nitrógeno , Hojas de la Planta , Rumen
2.
J Med Genet ; 47(9): 640-2, 2010 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-20577007

RESUMEN

Homozygous mutations of the telomeric SMN1 gene lead to degeneration of motor neurons causing spinal muscular atrophy (SMA). A highly similar centromeric gene (SMN2) can only partially compensate for SMN1 deficiency. The c.859G>C variant in SMN2 has been recently reported as a positive disease modifier. We identified the variant in 10 unrelated chronic SMA patients with a wide spectrum of phenotypes ranging from type II patients who can only sit to adult walkers. Haplotype analysis strongly suggests that the variant originated from a common ancestor. Our results confirm that the c.859G>C variant is a milder SMN2 allele and predict a direct correlation between SMN activity and phenotypic severity.


Asunto(s)
Atrofia Muscular Espinal/clasificación , Atrofia Muscular Espinal/genética , Mutación/genética , Filogenia , Proteína 2 para la Supervivencia de la Neurona Motora/genética , Adolescente , Niño , Preescolar , Femenino , Homocigoto , Humanos , Masculino , Fenotipo , España , Proteína 2 para la Supervivencia de la Neurona Motora/clasificación
3.
Neurologia ; 26(1): 32-8, 2011.
Artículo en Inglés, Español | MEDLINE | ID: mdl-21163205

RESUMEN

INTRODUCTION: A financial estimate has been made of the costs of epilepsy in adults. METHODS: A prospective, observational study, over a period of 6 months, on epileptic patients over 14 years-old. Patients with concomitant diseases that could influence the outcome of the epilepsy were excluded. The direct costs included: treatment received, number of visits to neurology, primary care, and emergencies, number of days admitted to hospital, number and type of diagnostic tests, use of transport to and from hospital, and psychopedagogic and social support due to the epilepsy. The indirect costs were analysed according to, loss of work productivity of the patients, taking into account families where the patient needed supervision due to epilepsy. The total costs were derived from the sum of the direct and indirect costs. The intangible costs were calculated according to QOLIE-10 questionnaire. RESULTS: The mean direct cost per patient was 1,055.2 €. The mean indirect financial costs came to 1,528.8 € per patient. The total cost associated to epilepsy was a mean of 2,584 € for each patient, mainly arising from loss of work days (p<.05). For intangible costs according to the QOLIE-10 scale a mean of 77.8 was obtained. CONCLUSIONS: The greatest percentage of costs associated to epilepsy is due to the work productivity loss by the patients. The costs of psychological and social suffering in epilepsy lead to a deterioration in the quality of life.


Asunto(s)
Costo de Enfermedad , Epilepsia/economía , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Epilepsia/psicología , Hospitalización/economía , Humanos , Persona de Mediana Edad , Estudios Prospectivos , Calidad de Vida , Encuestas y Cuestionarios , Adulto Joven
4.
Neurologia (Engl Ed) ; 36(5): 346-352, 2021 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-34714232

RESUMEN

INTRODUCTION: The safety and effectiveness of natalizumab in patients with relapsing-remitting multiple sclerosis (RRMS) has been demonstrated in clinical trials. However, due to the limitations of these trials, it is important to know how the condition behaves under long-term clinical practice conditions. OBJECTIVE: To determine the long-term effectiveness of natalizumab in patients with RRMS by means of annual evaluation of the "no evidence of disease activity" (NEDA) parameter, which includes number of relapses, disability (measured with the Expanded Disability Status Scale), and brain MRI parameters. PATIENTS AND METHODS: We performed a retrospective study of patients with RRMS from 3 centres who were treated with one or more doses of natalizumab. Each year, we evaluated NEDA status and safety based on the percentage of patients who discontinued treatment with natalizumab and experienced adverse reactions. RESULTS: The study included 89 patients, most of whom received treatment for 2 to 4 years, with a follow-up period of up to 7 years. Natalizumab significantly reduces the radiological and clinical progression of the disease, as well as the annual rate of relapses. The NEDA parameter demonstrates the effectiveness of the drug, with values of 75.28% for year one and 66.67% for year 7. Twenty-five patients (28.1%) dropped out after a median of 4 years. Fourteen of these patients (56%) dropped out due to the appearance of anti-JC virus antibodies, either in isolation or associated with another cause. Four dropouts (16%) were due to treatment ineffectiveness, with one patient dying due to progressive multifocal leukoencephalopathy. CONCLUSIONS: Natalizumab is highly effective as measured by the NEDA long-term remission parameter.


Asunto(s)
Esclerosis Múltiple Recurrente-Remitente , Esclerosis Múltiple , Humanos , Factores Inmunológicos/efectos adversos , Esclerosis Múltiple Recurrente-Remitente/tratamiento farmacológico , Natalizumab/efectos adversos , Estudios Retrospectivos
5.
Animal ; 14(S2): s382-s395, 2020 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-32576331

RESUMEN

The main objective of this study was to develop a dynamic energy balance model for dairy goats to describe and quantify energy partitioning between energy used for work (milk) and that lost to the environment. Increasing worldwide concerns regarding livestock contribution to global warming underscore the importance of improving energy efficiency utilization in dairy goats by reducing energy losses in feces, urine and methane (CH4). A dynamic model of CH4 emissions from experimental energy balance data in goats is proposed and parameterized (n = 48 individual animal observations). The model includes DM intake, NDF and lipid content of the diet as explanatory variables for CH4 emissions. An additional data set (n = 122 individual animals) from eight energy balance experiments was used to evaluate the model. The model adequately (root MS prediction error, RMSPE) represented energy in milk (E-milk; RMSPE = 5.6%), heat production (HP; RMSPE = 4.3%) and CH4 emissions (E-CH4; RMSPE = 11.9%). Residual analysis indicated that most of the prediction errors were due to unexplained variations with small mean and slope bias. Some mean bias was detected for HP (1.12%) and E-CH4 (1.27%) but was around zero for E-milk (0.14%). The slope bias was zero for HP (0.01%) and close to zero for E-milk (0.10%) and E-CH4 (0.22%). Random bias was >98% for E-CH4, HP and E-milk, indicating non-systematic errors and that mechanisms in the model are properly represented. As predicted energy increased, the model tended to underpredict E-CH4 and E-milk. The model is a first step toward a mechanistic description of nutrient use by goats and is useful as a research tool for investigating energy partitioning during lactation. The model described in this study could be used as a tool for making enteric CH4 emission inventories for goats.


Asunto(s)
Cabras , Metano , Animales , Calorimetría Indirecta/veterinaria , Dieta , Femenino , Cabras/metabolismo , Lactancia , Metano/análisis , Leche/química , Rumen/química
6.
Semergen ; 45(3): 156-163, 2019 Apr.
Artículo en Español | MEDLINE | ID: mdl-30573365

RESUMEN

INTRODUCTION: Nowadays, there is an increasing number of patients who seek emergency treatment for their dermatology complaints. However, it is unknown to what extent a skin disease is urgent enough to require immediate specialised care. Our aims were to assess the type and prevalence of the dermatological diseases treated in the division of Dermatology of a tertiary hospital, as well as to determine the main features of the patients with these disorders and the means of access to the Dermatology Department. MATERIAL AND METHOD: A descriptive and prospective study was conducted on patients with dermatological conditions diagnosed in the Dermatology outpatient clinic of a hospital during a 5 month period. For this purpose, the information corresponding to health cover, basic epidemiological characteristics, origin, diagnosis, and destiny of each patient was entered into a database. RESULTS: The dermatologist attended 242 patients, of whom 49% were women and 51% men. The mean age was 49.2 years. The 78 different diagnoses made were grouped into 12 categories to facilitate analysis. According to this classification, most patients had eccemas (17.8%), followed by miscellaneous (17.4%), tumours and cysts (16.2%), and infectious dermatoses (15%). In 7 (2.9%) cases, the patient was admitted to hospital. CONCLUSIONS: Dermatological diseases attended to in the Dermatology Department were varied. The most common diagnoses were psoriasis, eccemas, and toxicoderma. The profile of the patient seeking emergency dermatological care is a person between the fourth and fifth decade of the life, who arrives directly to the Emergency Department without requesting previous assessment by a Primary Care physician. The most common reason for admission was erythrodermic psoriasis.


Asunto(s)
Enfermedades de la Piel/epidemiología , Centros de Atención Terciaria , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Niño , Preescolar , Urgencias Médicas , Femenino , Humanos , Lactante , Masculino , Persona de Mediana Edad , Prevalencia , Pronóstico , Índice de Severidad de la Enfermedad , Enfermedades de la Piel/diagnóstico , Enfermedades de la Piel/terapia , España/epidemiología , Adulto Joven
7.
Meat Sci ; 76(3): 574-82, 2007 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-22061003

RESUMEN

Dry-cured ham, "Protected Designation of Origin (PDO)" Teruel, is a high quality meat product processed using a traditional dry-curing procedure. The objective of this paper was to study the microstructure of the Biceps femoris and Semimembranosus muscles during "PDO Teruel" dry-cured ham processing using electron microscopy techniques (Cryo-SEM, SEM and TEM). The Semimembranosus and Biceps femoris muscles from raw ham show the typical structure of muscle tissue in meat. The muscle fibres appear firmly attached to one another by the endomysial connective tissue; the myofibrils inside the cells are strongly attached to each other and to the sarcolemma. In raw ham, the typical structural elements that constitute the sarcomere can be observed by TEM. Important microstructural changes are observed following salting; reflected in the fact that the Z-disks inside the myofibrils are no longer in line and there is important degradation of the cell membranes in this stage. At the end of the process, an accumulation of solutes, which could be products from proteolysis occurring mainly in the last stage of ripening, could be observed in both muscles. Thus the proteolysis and dehydratation phenomena that take place during "PDO Teruel" dry-cured ham processing occur at an ultrastructural level, and this is the basis to produce a product with the sensory features appreciated by consumers.

8.
Meat Sci ; 74(3): 586-93, 2006 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-22063063

RESUMEN

The aim of this work was to investigate the degradation of the water-soluble and myofibrillar proteins during the production of "PDO Teruel" cured ham using SDS-PAGE, and measurement of proteolytic activities (cathepsins B+L, cathepsin L, cathepsin D), as factors that influence the sensory characteristics of this product. This paper contributes to the specific characterisation of a product included in the European Union list of special quality products. The results showed that water-soluble proteins decrease considerably due to salting out and drainage after salting. The degradation of myofibrillar proteins is more pronounced during the ripening process, particularly in the last four months when the main proteins responsible for the structure of muscular tissue are affected. There is an important residual enzymatic activity for cathepsin B, L and D, which must be a decisive factor in the proteolysis observed during "PDO Teruel" ham processing.

9.
Rev Neurol ; 42(1): 22-4, 2006.
Artículo en Español | MEDLINE | ID: mdl-16402322

RESUMEN

INTRODUCTION: Leber's optic neuropathy is a hereditary disease that mainly affects young males and is produced by specific mutations of the mitochondrial DNA, which affect the complex I of the mitochondrial respiratory chain. CASE REPORT: An 18-year-old male who presented with a 3-week history of progressive loss of sight in the right eye. Magnetic resonance imaging of the brain revealed numerous hyperintense lesions in the periventricular and subcortical white matter, and the visual evoked potentials showed bilateral optic neuropathy that was mild on the left side and severe on the right side. A spinal tap was performed and oligoclonal bands were detected in the cerebrospinal fluid. In the weeks that followed vision continued to get worse on both sides and the patient had hyalinised vessels in the papilla, with lower amplitude responses bilaterally in the electroretinogram. A genetic study was conducted that revealed a primary mutation 11778 in gene MTND4 and secondary mutation 15257 in gene MTCYB, which were compatible with a diagnosis of Leber's optic neuropathy. CONCLUSIONS: The absence of inflammation of the optic disc, which could lead to the suspicion of a retrobulbar neuritis, must act as a warning to the physician that he or she is possibly before a case of Leber's optic neuropathy, especially when the loss of vision is still progressing, when there is early bilateral involvement or if there is a family history of optic neuritis or multiple sclerosis.


Asunto(s)
ADN Mitocondrial , Atrofia Óptica Hereditaria de Leber , Adolescente , Adulto , Humanos , Imagen por Resonancia Magnética , Masculino , Persona de Mediana Edad , Mutación , Atrofia Óptica Hereditaria de Leber/diagnóstico , Atrofia Óptica Hereditaria de Leber/genética , Atrofia Óptica Hereditaria de Leber/patología , Atrofia Óptica Hereditaria de Leber/fisiopatología , Pronóstico
10.
Food Res Int ; 78: 141-147, 2015 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-28433275

RESUMEN

Protein is recognized as the macronutrient with the highest satiating ability. Yogurt can be an excellent basis for designing satiating food as it is protein-based food product. Five different set-type yogurts were formulated by adding extra skim milk powder (MP), whey protein concentrate (WPC), calcium caseinate (CAS) or a blend of whey protein concentrate with calcium caseinate (CAS-WPC). A control yogurt without extra protein content was also prepared. Differences in sensory perceptions (through CATA questions) were related to the consumers' expected satiating ability and liking scores (of several modalities). In addition, an "Ideal satiating yogurt" was included in the CATA question to perform a penalty analysis to show potential directions for yogurt reformulation and to relate sensory and non-sensory yogurt characteristics to satiating capacity.

11.
Am J Med Genet ; 57(3): 393-6, 1995 Jul 03.
Artículo en Inglés | MEDLINE | ID: mdl-7677140

RESUMEN

The presence of Y chromosome sequences in Ullrich-Turner syndrome (UTS) patients has been suggested in previous work. Karyotype analysis estimated at about 60% of patients with a 45, X constitution and molecular analysis (Southern blot analysis with several Y chromosome probes and PCR of specific sequences) identified the presence of Y chromosome material in about 40% of 45, X patients. We have developed a very sensitive, PCR-based method to detect Y specific sequences in DNA from UTS patients. This protocol permits the detection of a single cell carrying a Y sequence among 10(5) Y-negative cells. We studied 18 UTS patients with 4 Y-specific sequences. In 11 patients we detected a positive amplification for at least one Y sequence. The existence of a simple and sensitive method for the detection of Y sequences has important implications for UTS patients, in view of the risk for some of the females carrying Y-chromosome material of developing gonadoblastoma and virilization. Additionally, some of the UTS associated phenotypes, such as renal anomalies, could be correlated with the presence of Y chromosome specific sequences.


Asunto(s)
Síndrome de Turner/genética , Cromosoma Y , Adolescente , Secuencia de Bases , Niño , Preescolar , Cartilla de ADN , Femenino , Humanos , Lactante , Recién Nacido , Cariotipificación , Datos de Secuencia Molecular , Reacción en Cadena de la Polimerasa
12.
Meat Sci ; 66(4): 823-9, 2004 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-22061014

RESUMEN

This work studied the microstructural degradation of rabbit semimembranosus muscle wrapped with Pteridium aquilinum fern fronds, stored at 4 °C during the first 72 h postmortem. At the microstructural level, practically all the perimysial and endomysial connective tissue was destroyed and a small degradation of the myofibrils could be observed after the first 24 h postmortem; in addition, a degradation of the sarcolemma and the generation of numerous gaps were seen. After 32 h postmortem, tissue fibres were broken, cell membranes were more strongly degraded, and the connections between the sarcolemma and the myofibrils had disappeared. After 72 h postmortem, intercellular connections became degraded inside the muscle bundles and intercellular gaps became larger. The proteolytic activity is attributed to fern endogenous enzymatic activity in addition to the typical endogenous enzymatic activity of meat postmortem.

13.
Med Clin (Barc) ; 103(18): 681-3, 1994 Nov 26.
Artículo en Español | MEDLINE | ID: mdl-7808073

RESUMEN

BACKGROUND: Cystic fibrosis (CF) is the most common autosomic-recessive inherited disorder. More than 300 different mutations in the CF gene (CFTR) have been described, being delta F508 and G542X the most common in the Spanish population. The frequencies of these mutations vary between the different European populations. METHODS: We have studied the delta F508 and G542X mutations in 20 CF-patients from Asturias. These mutations were analysed through the polymerase chain reaction (PCR). RESULTS: The frequency of the delta F508 mutation in Asturias was 77.5%, higher than those found in most of the other Spanish populations. The frequency found in Asturias is close to the frequency described for the Basque Country population. Patients homozygous for the delta F508 mutation showed clinical symptoms similar to those described in studies on other populations. CONCLUSIONS: The high frequency of two mutations in the CFTR gene in Asturias makes possible the direct diagnostic in most families. The delta F508 mutation is associated to severe clinical manifestations, like early pancreatic insufficiency and Pseudomonas infection.


Asunto(s)
Fibrosis Quística/genética , Frecuencia de los Genes , Mutación , Adolescente , Secuencia de Bases , Niño , Preescolar , Fibrosis Quística/epidemiología , Electroforesis en Gel de Poliacrilamida , Homocigoto , Humanos , Lactante , Recién Nacido , Datos de Secuencia Molecular , Sondas de Oligonucleótidos , Reacción en Cadena de la Polimerasa , España/epidemiología
14.
Med Clin (Barc) ; 98(11): 409-12, 1992 Mar 21.
Artículo en Español | MEDLINE | ID: mdl-1349048

RESUMEN

BACKGROUND: Adult renal polycystosis (ARP) is a dominant autosomic disease. The gene responsible for this disease in most families has been located on the short arm of chromosome 16 (16 p) by restriction analysis of the DNA polymorphisms (RFLP). METHODS: The existence of several polymorphic markers flanking this gene permits the diagnosis of any member of an affected family. A series of proximal and distal genetic markers have been used to study the segregation of the disease in a group of families with more than one affected member. RESULTS: The clinical and genetic results obtained from a study of 10 Spanish families with ARP have been reported. A high percentage of the members under 30 years of age (40%) did not present renal cysts. CONCLUSIONS: Restriction analysis of DNA are fundamentally for a disease in which a high percentage of carriers remain asymptomatic within the reproductive age.


Asunto(s)
Enfermedades Renales Poliquísticas/genética , Polimorfismo de Longitud del Fragmento de Restricción , Adulto , Factores de Edad , Genes Dominantes , Marcadores Genéticos , Humanos , Linaje
15.
Rev Neurol ; 24(131): 841-2, 1996 Jul.
Artículo en Español | MEDLINE | ID: mdl-8681199

RESUMEN

The association of active tuberculosis with changes in the peripheral nervous system is not well defined, although it is included amongst the neuro-muscular disorders of the peripheral nerve diseases due to infective agents. We describe the case of two patients with sensory-motor polyneuropathy and coexistant active pulmonary tuberculosis which was untreated prior to diagnosis of the peripheral nervous system disorder. In both cases the condition was sub-acute and did not improve until treatment was begun. Anti-tuberculosis treatment was followed by marked improvement of both the pulmonary tuberculosis and of the polyneuropathy. The close chronological relationship of both clinical pictures with the therapeutic response supports the hypothesis of the pathogenesis of the peripheral nervous system disorder being mediated by an anomolous immune response, initiated by the infection with Koch's bacillus.


Asunto(s)
Enfermedades del Sistema Nervioso Periférico/complicaciones , Tuberculosis Pulmonar/complicaciones , Adulto , Anciano , Encéfalo/fisiopatología , Trastornos de Deglución/etiología , Disartria/etiología , Femenino , Humanos , Masculino , Mycobacterium tuberculosis/aislamiento & purificación , Conducción Nerviosa , Enfermedades del Sistema Nervioso Periférico/diagnóstico , Enfermedades del Sistema Nervioso Periférico/fisiopatología , Nervio Peroneo/fisiopatología , Nervio Tibial/fisiopatología , Tuberculosis Pulmonar/microbiología
16.
Rev Neurol ; 39(5): 450-3, 2004.
Artículo en Español | MEDLINE | ID: mdl-15378460

RESUMEN

AIMS: In this study we review the economic impact involved in suffering from this disease in an attempt to determine how it affects both the individual and society, and the potential benefits deriving from its prevention and treatment. DEVELOPMENT: The World Health Organisation and the World Bank have pointed out that 90% of the costs generated by epilepsy are produced in developing countries. Yet in most developed countries the economic impact of the disease remains partially hidden for patients by the existence of publicly funded health service. As regards spending on pharmaceutical products in Spain, the subgroup made up of the antiepileptic drugs accounted for 1.36% of the total spending throughout the year 2001. Nevertheless, the main economic consequence for most patients is the limitation they suffer in their occupational activities, which is inversely proportional to the degree of control over their seizures and considerably higher than in the general population. Moreover, in epilepsy we must not forget the costs linked to its numerous psychological and social consequences. CONCLUSIONS: As happens in other areas of health care, the way epilepsy is attended depends to a large extent on economic factors. Further studies are therefore needed to provide us with a better understanding of the role played by economics in the field of health care.


Asunto(s)
Costo de Enfermedad , Epilepsia/economía , Costos de la Atención en Salud , Países en Desarrollo , Gastos en Salud , Servicios de Salud/economía , Humanos , Calidad de Vida
17.
Rev Neurol ; 39(8): 719-23, 2004.
Artículo en Español | MEDLINE | ID: mdl-15514898

RESUMEN

INTRODUCTION: Transient global amnesia (TGA) is a neurological disorder that consists in a sudden loss of anterograd memory and temporospatial disorientation during less than 24 hours. Several precipitating factors have been reported. Conventional neuroimaging scans usually are negative. Different etiopathogenic theories have been postulated but the vascular etiology is the most commonly accepted. CASE REPORTS: Three patients with a typical presentation of TGA are studied. In all of them two brain blood flow HMPAO SPECT were performed, within the first 48 hours from the onset and three months after as an evolutive control. The first patient showed a left temporal perfusion defect and temporoparietal hypoperfusion. The second showed frontotemporal hypoperfusion, temporal mesial defect and hypoperfusion in basal ganglia, all in the left side. The third patient showed thalamic hyperperfusion and cerebellum hypoperfusion, both in the left. In all of them, control SPECT normalized. CONCLUSION: Three etiopatogenic theories about TGA have been reported: epilepsy, migraine and blood flow impairment. In TGA neuroanatomic image and neurophysiologic studies usually do not show significative alterations. Conversely, functional studies as brain blood flow HMPAO SPECT, do show changes being the most common bilateral temporobasal hypoperfusion, although this is not the only pattern described. Causes of this variable behaviour remain unclear but can be related to different clinic expressions and, over all, to time of evolution from onset. The three cases in this study show three different perfusion patterns reported in TGA and all of them withhold the vascular etiopathogenic theory.


Asunto(s)
Amnesia Global Transitoria , Circulación Cerebrovascular/fisiología , Trastornos Cerebrovasculares , Exametazima de Tecnecio Tc 99m/metabolismo , Tomografía Computarizada de Emisión de Fotón Único , Adulto , Anciano , Amnesia Global Transitoria/etiología , Amnesia Global Transitoria/patología , Encéfalo/anatomía & histología , Encéfalo/patología , Encéfalo/fisiología , Trastornos Cerebrovasculares/complicaciones , Trastornos Cerebrovasculares/patología , Femenino , Humanos , Masculino , Persona de Mediana Edad , Flujo Sanguíneo Regional
18.
Rev Neurol ; 38(9): 839-42, 2004.
Artículo en Español | MEDLINE | ID: mdl-15152353

RESUMEN

INTRODUCTION: Cerebellar glioblastoma multiforme (CGM) accounts for less than 1% of all intracranial glioblastomas; it spreads quickly locally, above all towards the brain stem and adjacent leptomeninges, and has a poor prognosis. CASE REPORT: We report the case of a 55 year old patient who presented a continuous feeling of dizziness, instability and sickness, with occasionally vomiting and double vision that had started two months before being admitted to hospital. A physical exploration revealed hypaesthesia of the right side of the face, tactile and algesic hypaesthesia in the left side of the body and nystagmus in the bilateral horizontal gaze. Results of the general physical exploration were normal. A magnetic resonance (MR) brain scan revealed a 3 cm expansive lesion in the middle cerebellar peduncle and right cerebellar hemisphere, which was hypointense in T1 and hyperintense in T2. Administering contrast showed it to be heterogeneous, with irregular annular enhancement, and perilesional edema. Subtotal excision of the lesion was performed and pathological analysis allowed a diagnosis of glioblastoma multiforme to be made; radio and chemotherapy were continued. CONCLUSION: CGM is infrequent and 46.7 years is the mean age of onset. 59% of tumours are located in the hemispheres, they tend to spread locally, and remote metastases have also been reported. Initial clinical manifestations are intracranial hypertension, and gait and balance disorders. Differential diagnosis is provided by MR and includes metastasis, infarction and abscesses. Treatment involves radical surgical excision followed by local radiotherapy. The use of chemotherapy has been reported but its role in the treatment of this entity is still not altogether clear.


Asunto(s)
Neoplasias Cerebelosas/diagnóstico , Glioblastoma/diagnóstico , Neoplasias Cerebelosas/patología , Neoplasias Cerebelosas/fisiopatología , Neoplasias Cerebelosas/terapia , Glioblastoma/patología , Glioblastoma/fisiopatología , Glioblastoma/terapia , Humanos , Imagen por Resonancia Magnética , Masculino , Persona de Mediana Edad , Metástasis de la Neoplasia
19.
Rev Neurol ; 26(154): 905-11, 1998 Jun.
Artículo en Español | MEDLINE | ID: mdl-9658457

RESUMEN

INTRODUCTION: Limb Girdle Muscular Dystrophy type 2C (LGMD2C) is an autosomal recessive dystrophy due to the deficit of gamma-sarcoglycan, one of the proteins of the dystrophin-associated proteins complex (DAP). A new mutation in the gamma-sarcoglycan gene, 13q12, has been described recently and is exclusive of the gypsy community. OBJECTIVE: To describe the clinicopathological and the genetic findings of eleven cases from a Spanish gypsy family with LGMD2C and the mutation C283Y. MATERIAL AND METHODS: We describe a large gypsy family with the C283Y mutation and eleven affected patients. We have performed an extensive clinical and pathological study with immunohistochemistry and Western blot analyses in the eleven patients and a genetic study of a total of twenty-seven members of the family. RESULTS: The patients presented a severe muscular dystrophy with a dystrophic pattern in the muscle biopsy, normal immunolabeling for dystrophin, very weak for alpha-, beta- and delta-sarcoglycan and absent for gamma-sarcoglycan. These eleven patients were found to be homozygous for the mutation and twelve other members of the family, heterozygous. CONCLUSIONS: The clinical picture and the evolution of the disease herein described is similar to that observed in DMD. Two fundamental differences were found: the autosomal recessive mode of inheritance, and the normal immunohistochemistry and immunoblot for dystrophin in the skeletal muscle.


Asunto(s)
Cromosomas Humanos Par 13/genética , Proteínas del Citoesqueleto/deficiencia , Glicoproteínas de Membrana/deficiencia , Distrofias Musculares/genética , Mutación Puntual , Adolescente , Adulto , Biopsia , Niño , Preescolar , Consanguinidad , Proteínas del Citoesqueleto/genética , Proteínas del Citoesqueleto/metabolismo , Distrofina/análisis , Electromiografía , Femenino , Genes Recesivos , Genotipo , Humanos , Masculino , Glicoproteínas de Membrana/genética , Glicoproteínas de Membrana/metabolismo , Músculo Esquelético/química , Músculo Esquelético/patología , Distrofias Musculares/etnología , Distrofias Musculares/metabolismo , Distrofias Musculares/patología , Linaje , Fenotipo , Romaní/genética , Sarcoglicanos , Escoliosis/etnología , Escoliosis/genética
20.
J Food Sci ; 79(1): C32-8, 2014 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-24313952

RESUMEN

Rojo Brillante is an astringent oriental persimmon variety with high levels of bioactive compounds such as soluble tannins, carotenoids, phenolic acids, and dietary fiber. The purpose of this study was to investigate the effects of high hydrostatic pressure (HHP) and pasteurization on the structure of the fruit and on the extractability of certain bioactive compounds. The microstructure was studied using light microscopy, transmission electron microscopy, and low temperature scanning electron microscopy, and certain physicochemical properties (carotenoid and total soluble tannin content, antioxidant activity, fiber content, color, and texture properties) were measured. The structural changes induced by HHP caused a rise in solute circulation in the tissues that could be responsible for the increased carotenoid level and the unchanged antioxidant activity in comparison with the untreated persimmon. In contrast, the changes that took place during pasteurization lowered the tannin content and antioxidant activity. Consequently, HHP treatment could improve the extraction of potentially bioactive compoundsxsts from persimmons. A high nutritional value ingredient to be used when formulating new functional foods could be obtained using HHP.


Asunto(s)
Diospyros/química , Frutas/química , Pasteurización , Antioxidantes/análisis , Carotenoides/análisis , Fenómenos Químicos , Frío , Color , Fibras de la Dieta/análisis , Manipulación de Alimentos , Presión Hidrostática , Hidroxibenzoatos/análisis , Microscopía Electrónica de Transmisión , Valor Nutritivo , Polifenoles/análisis , Taninos/análisis
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