RESUMEN
BACKGROUND: Tobacco is a highly prevalent substance of abuse in patients with psychosis. Previous studies have reported an association between tobacco use and schizophrenia. The aim of this study was to analyze the relationship between tobacco use and first-episode psychosis (FEP), age at onset of psychosis, and specific diagnosis of psychosis. METHODS: The sample consisted of 1105 FEP patients and 1355 controls from the European Network of National Schizophrenia Networks Studying Gene-Environment Interactions (EU-GEI) study. We assessed substance use with the Tobacco and Alcohol Questionnaire and performed a series of regression analyses using case-control status, age of onset of psychosis, and diagnosis as outcomes and tobacco use and frequency of tobacco use as predictors. Analyses were adjusted for sociodemographic characteristics, alcohol, and cannabis use. RESULTS: After controlling for cannabis use, FEP patients were 2.6 times more likely to use tobacco [p ⩽ 0.001; adjusted odds ratio (AOR) 2.6; 95% confidence interval (CI) [2.1-3.2]] and 1.7 times more likely to smoke 20 or more cigarettes a day (p = 0.003; AOR 1.7; 95% CI [1.2-2.4]) than controls. Tobacco use was associated with an earlier age at psychosis onset (ß = -2.3; p ⩽ 0.001; 95% CI [-3.7 to -0.9]) and was 1.3 times more frequent in FEP patients with a diagnosis of schizophrenia than in other diagnoses of psychosis (AOR 1.3; 95% CI [1.0-1.8]); however, these results were no longer significant after controlling for cannabis use. CONCLUSIONS: Tobacco and heavy-tobacco use are associated with increased odds of FEP. These findings further support the relevance of tobacco prevention in young populations.
Asunto(s)
Cannabis , Trastornos Psicóticos , Esquizofrenia , Trastornos Relacionados con Sustancias , Humanos , Trastornos Psicóticos/epidemiología , Trastornos Psicóticos/diagnóstico , Esquizofrenia/epidemiología , Uso de Tabaco/epidemiología , Cannabis/efectos adversosRESUMEN
INTRODUCTION: The increase in the number of people with upper limb spasticity as a sequela of cerebrovascular disease, which negatively impacts their autonomy, functional independence and participation, and affects their quality of life, calls for the application of precise and objective instruments for its measurement and evaluation. OBJECTIVE: To assess the validity and reliability of the Tardieu scale in the evaluation of upper extremity spasticity in adults with cerebrovascular disease. MATERIALS AND METHODS: The search strategy was implemented in eight databases; the systematic review protocol was registered beforehand in INPLASY (with registration no. 2023110076). The evidence was synthesised in three phases: a tabular presentation of results, an evaluation of the quality of the articles, and a narrative synthesis of the findings. RESULTS: Only three of the 33 articles identified fulfilled the variables that enable the validity and reliability of the Tardieu scale to be established. The measurements of angles and velocities R1, R2 and R2-R1 were analysed. Student's t-test to assess the reliability between the measurements of R1 and R2; and angles R2 and R2-R1 showed statistical significance, which confirmed the reliability of the scale. CONCLUSIONS: The Tardieu scale proved robust. It is important to note that the sample size, the time of evolution of the disease and the age of the patients may influence the results of the scale.
TITLE: Validez y fiabilidad de la escala de Tardieu para evaluar la espasticidad en miembro superior en adultos con enfermedad cerebrovascular. Revisión sistemática.Introducción. El incremento en el número de personas con espasticidad en los miembros superiores como secuela de una enfermedad cerebrovascular, que impacta negativamente en la autonomía, la independencia funcional y la participación, y afecta a la calidad de vida de las personas, demanda la aplicación de herramientas clínicas precisas y objetivas para su medición y evaluación. Objetivo. Evaluar la validez y la fiabilidad de la escala de Tardieu en la evaluación de la espasticidad en las extremidades superiores de adultos con enfermedad cerebrovascular. Materiales y métodos. La estrategia de búsqueda se implementó en ocho bases de datos; el protocolo de revisión sistemática se registró previamente en INPLASY (registro n.o 2023110076). La síntesis de la evidencia se llevó a cabo en tres fases: presentación tabular de resultados, evaluación de la calidad de los artículos y síntesis narrativa de los hallazgos. Resultados. De los 33 artículos identificados, sólo tres cumplieron con las variables que permiten establecer la validez y la fiabilidad de la escala de Tardieu. Se analizaron las medidas de los ángulos y velocidades R1, R2 y R2-R1. La prueba de la t de Student para evaluar la fiabilidad entre las medidas de R1 y R2; los ángulos R2 y R2-R1 mostraron significancia estadística, lo que confirmó la confiabilidad de la escala. Conclusiones. La escala de Tardieu demostró robustez. Es importante considerar que el tamaño de la muestra, el tiempo de evolución de la enfermedad y la edad de los pacientes pueden influir en los resultados de la escala.
Asunto(s)
Trastornos Cerebrovasculares , Espasticidad Muscular , Extremidad Superior , Humanos , Espasticidad Muscular/etiología , Espasticidad Muscular/diagnóstico , Espasticidad Muscular/fisiopatología , Reproducibilidad de los Resultados , Trastornos Cerebrovasculares/complicaciones , Extremidad Superior/fisiopatología , AdultoRESUMEN
Indirect or dural carotid cavernous fistulas are abnormal connections between the cavernous sinus and meningeal branches of the external and/or internal carotid arteries. Most of them are idiopathic and occurs spontaneously. Symptoms vary from a tiny episcleral injection to a severe visual loss. Conservative therapy is recomended in cases with few symptoms and no leptomeningeal drainage, as spontaneous resolution is not infrequent. Whenever symptoms worsen, treatment of the fistula should be prescribed. Nowadays, transvenous endovascular treatment consisting of packing the cavernous sinus is the first choice. In most cases, cavernous sinus can be approached through the inferior petrosal sinus. However, sometimes that is not possible, and an approach directly through the superior ophthalmic vein could be necessary. We report a case of a patient with a dural carotid cavernous fistula treated with embolization of the cavernous sinus through the ophthalmic vein.
Asunto(s)
Fístula del Seno Cavernoso de la Carótida/cirugía , Embolización Terapéutica , Ojo/irrigación sanguínea , Venas/cirugía , Femenino , Humanos , Persona de Mediana Edad , Resultado del TratamientoRESUMEN
Dissecting aneurysms of the carotid artery as a cause of subarachnoid hemorrhage are rare. However, the association of arterial dissection with the etiology of some aneurysms of the dorsal or anterior wall of the carotid artery, carotid trunk or "blister-like" aneurysms has increased the interest in the description of dissecting aneurysms, as they are difficult to treat and require non-habitual surgical techniques. We present the case of a patient that presented with a poor grade subarachnoid hemorrhage secondary to a right carotid artery dissecting aneurysm characterised in angiography by a carotid artery stenosis accompanied by a post-stenotic dilatation and the finding of a saccular aneurysm that increased in size in the follow-up study. A carotid occlusion test showed an asymmetry in the opacification of the venous phase indicating the need for a revascularization procedure prior to arterial sacrifice. A high flow EC-IC bypass was performed using a saphenous vein graft prior to right carotid artery occlusion without morbidity. Eight months after the procedure the patient is free of neurological deficit. Control image studies demonstrate the resolution of the carotid lesion and the bypass permeability. We discuss the difficulties in the diagnosis of these aneurysms, their clinical and imaging characteristics and the problems related to their treatment as they often require arterial sacrifice with or without prior cerebral revascularization.
Asunto(s)
Traumatismos de las Arterias Carótidas/complicaciones , Disección de la Arteria Carótida Interna/complicaciones , Revascularización Cerebral , Hemorragia Subaracnoidea/etiología , Adulto , Implantación de Prótesis Vascular , Traumatismos de las Arterias Carótidas/diagnóstico por imagen , Traumatismos de las Arterias Carótidas/cirugía , Disección de la Arteria Carótida Interna/cirugía , Estenosis Carotídea/complicaciones , Estenosis Carotídea/diagnóstico por imagen , Estenosis Carotídea/cirugía , Angiografía Cerebral , Diagnóstico Diferencial , Femenino , Humanos , Aneurisma Intracraneal/diagnóstico , Radiografía Intervencional , Vena Safena/trasplante , Hemorragia Subaracnoidea/cirugía , Trasplante Heterotópico , Ultrasonografía IntervencionalRESUMEN
OBJECTIVE: The aim of this observational prospective study was to evaluate the usefulness of TruviewPCD for tracheal intubation in clinical practice, and to provide data for future studies. MATERIAL AND METHOD: A study was conducted on 86 consecutive children undergoing ear, nose and throat (ENT) or paediatric procedures under general anaesthesia with tracheal intubation. Children with two or more difficult airway criteria were excluded. A descriptive statistical analysis was performed. RESULTS: Eighty-three patients were successfully intubated with TruviewPCD. Demographic data: Age 4.9 (2.8) years, weight 19.5 (7.7)kg. Seventy-nine children needed one attempt and four required two attempts at intubation. Time for glottis view and tracheal intubation was 10.8 (5.6) and 30 [27.9-37] seconds, respectively. Eighty-one patients were classified as easy or very easy to intubate, and only two cases were considered difficult. No significant complications were registered. CONCLUSIONS: TruviewPCD is a good device for paediatric airway management. It would be interesting to have an intermediate blade between size 1 and 2, as the difference between both is too wide.
Asunto(s)
Anestesia General , Intubación Intratraqueal , Laringoscopios , Manejo de la Vía Aérea , Niño , Preescolar , Femenino , Humanos , Masculino , Estudios Prospectivos , Grabación en VideoRESUMEN
Cytomegalovirus (CMV) pneumonia is one of the most common pulmonary complications after bone marrow transplantation (BMT). We describe the high resolution CT (HRCT) findings of 13 patients with CMV pneumonia diagnosed after allogenic BMT. The study included 13 consecutive patients who developed CMV pneumonia after BMT and who had HRCT of the chest performed within 24 h of the onset of symptoms. HRCT scans were reviewed by two radiologists who assessed pattern and distribution of findings. There were nine male and four female patients, ranging from 9 years to 56 years of age (mean age 33 years). BMT was performed for treatment of chronic myelogenous leukaemia (54%), severe aplastic anaemia (23%), acute myelogenous leukaemia (15%) and Fanconi's anaemia (8%). The time elapsed until diagnosis ranged from +18 days to +405 days (median of 54 days, mean +81.6 days). The predominant patterns of abnormality on HRCT scans were ground-glass opacities (69%), small centrilobular nodules (69%) and air-space opacities (54%). The abnormalities were distributed in the central and peripheral zones of the lungs in six cases, only in the periphery in four cases, and only in the central zone in three cases. In all cases the lung lesions were bilateral, and asymmetry was observed in seven cases. The authors conclude that the most common HRCT findings in patients with CMV pneumonia after BMT consist of bilateral asymmetric ground-glass, air-space opacities and small centrilobular nodules.
Asunto(s)
Trasplante de Médula Ósea/efectos adversos , Infecciones por Citomegalovirus/diagnóstico por imagen , Neumonía Viral/diagnóstico por imagen , Tomografía Computarizada por Rayos X/métodos , Adolescente , Adulto , Niño , Infecciones por Citomegalovirus/etiología , Femenino , Humanos , Masculino , Persona de Mediana Edad , Neumonía Viral/etiología , Trasplante HomólogoRESUMEN
Streptococcus agalactiae is an endogenous bacterium that has emerged in the last 20 years as an etiological agent in both neonatal and perinatal infections, and in immunocompromised patients. The differentiation of the capsular polysaccharide, the presence of surface proteins c, X, R, and molecular methods allow classification in serotypes and genotypes. This identification is a useful tool for epidemiological purposes and virulence studies in this bacterium. The objective of this work was to study the serotypes and the antimicrobial susceptibility of isolates recovered from invasive diseases in different areas of Argentina. In the analyzed sample a fair predominance of Ia and III serotypes was recovered, followed by II and IV serotypes. All the isolates were found to be sensitive to penicillin. A 6% of resistance to erythromycin and a 4.5% to clindamycin were detected. In three of the isolates, constitutive MLS phenotype (resistance to macrolides, lincosamins and streptogramins) was founded, while in the remaining one, inducible MLS phenotype was detected. These results stress the importance of conducting a surveillance of the prevalent serotypes in our country with the goal of future prevention of this disease with an effective vaccine. The knowledge of the antimicrobial susceptibility profile will be also important to obtain therapeutic success in the treatment.
Asunto(s)
Infecciones Estreptocócicas/microbiología , Streptococcus agalactiae/clasificación , Streptococcus agalactiae/efectos de los fármacos , Argentina , Farmacorresistencia Bacteriana , Humanos , Pruebas de Sensibilidad Microbiana , Serotipificación , VirulenciaRESUMEN
Sixty four CAH type B patients were studied, they were simultaneously treated with corticosteroids and azathioprine for an average period of 52 months. The patients were classified into two groups: CAH without cirrhosis (45) and CAH with cirrhosis (19). Patients were initially treated with doses of 40 mg prednisone and 50 mg azathioprine. The reduction of steroids was done according to ASAT level; medication being discontinued when there were not signs of activity in liver biopsy. Therapy was readministered due to elevation of ASAT (5 fold) and the liver biopsy shown pattern of CAH. 49% of CAH patients without cirrhosis improve histology and discontinue treatment; half of them had to resume therapy because of relapse. 14% of the patients died (4); three of them belonging to the group who continued taking the drugs. In the CAH group with cirrhosis, 6 were in remission and withdrawn-from treatment, but 5 had to resume it. The mortality rate of this group was of 69% (13), all patients belonging to the group where were not able to discontinue medication. In both groups ASAT was a good parameter of activity. Complications were more frequent in the group with cirrhosis (42%) than in the one without cirrhosis (17%) (p less than 0.01). In patients with CAH type B, the best therapeutic response was associated to those cases without cirrhosis. Mortality rate is high in patients with cirrhosis at onset of therapy.
Asunto(s)
Azatioprina/uso terapéutico , Hepatitis B/tratamiento farmacológico , Hepatitis Crónica/tratamiento farmacológico , Prednisona/uso terapéutico , Adolescente , Adulto , Anciano , Aspartato Aminotransferasas/sangre , Niño , Preescolar , Enfermedad Crónica , Quimioterapia Combinada , Femenino , Antígenos de Superficie de la Hepatitis B/análisis , Humanos , Hígado/patología , Masculino , Persona de Mediana EdadRESUMEN
Intraparenchymal schwannomas are very rare tumours. We present two young adult patients operated for this type of lesion who show no signs of recurrence 2 years after surgery. These tumours have a bimodal peak of presentation: most occur in young patients under 25 years, and the rest present in the elderly. Characteristically they show both Antoni A and Antoni B areas, intense inmunoreactivity to S-100 and Vimentin protein, and none to EMA or CD34. Electron microscopy is diagnostic when basal membrane is found around the cytoplasmatic processes. MRI spectroscopy depicts increased myoinositol, choline and lipids, and perfusion MR demonstrates high rCBV with a characteristic curve due to the total absence of blood brain barrier. An origin in the Schwann cells of the perivascular nervous plexus in the subarachnoid space is the most accepted theory for the histogenesis of these tumours. We propose to perform the characterization of a series of markers such as SOX-10 in every new case in order to prove that theory.
Asunto(s)
Neoplasias Encefálicas/patología , Neurilemoma/patología , Biomarcadores de Tumor , Neoplasias Encefálicas/cirugía , Epilepsia Parcial Compleja/etiología , Epilepsia Parcial Compleja/patología , Cefalea/etiología , Humanos , Procesamiento de Imagen Asistido por Computador , Imagen por Resonancia Magnética , Masculino , Microscopía Electrónica , Neurilemoma/cirugía , Examen Neurológico , Procedimientos Neuroquirúrgicos , Lóbulo Occipital/patología , Recuperación de la Función , Resultado del Tratamiento , Adulto JovenRESUMEN
The Mu B protein is an ATP-dependent DNA-binding protein and an allosteric activator of the Mu transposase. As a result of these activities, Mu B is instrumental in efficient transposition and target-site choice. We analysed in vivo the role of Mu B in the two different recombination reactions performed by phage Mu: non-replicative transposition, the pathway used during integration, and replicative transposition, the pathway used during lytic growth. Utilizing a sensitive PCR-based assay for Mu transposition, we found that Mu B is not required for integration, but enhances the rate and extent of the process. Furthermore, three different mutant versions of Mu B, Mu BC99Y, Mu BK106A, and Mu B1-294, stimulate integration to a similar level as the wild-type protein. In contrast, these mutant proteins fail to support Mu growth. This deficiency is attributable to a defect in formation of an essential intermediate for replicative transposition. Biochemical analysis of the Mu B mutant proteins reveals common features: the mutants retain the ability to stimulate transposase, but are defective in DNA binding and target DNA delivery. These data indicate that activation of transposase by Mu B is sufficient for robust non-replicative transposition. Efficient replicative transposition, however, demands that the Mu B protein not only activate transposase, but also bind and deliver the target DNA.
Asunto(s)
Bacteriófago mu/fisiología , Proteínas de Unión al ADN/fisiología , Proteínas Virales , Integración Viral/fisiología , Replicación Viral/fisiología , Secuencia de Bases , Cartilla de ADNRESUMEN
The effect of adrenergic influences on Met-enkephalin concentrations in median eminence, neurointermediate pituitary and hypothalamus outside median eminence were examined. Met-enkephalin levels in median eminence were augmented by administration of the alpha 1-adrenergic agonist methoxamine acutely or chronically and decreased by the selective depletion of adrenergic transmitters by 6-hydroxydopamine. Met-enkephalin levels in neurointermediate lobe were decreased by methoxamine but unaffected by depletion of noradrenaline/adrenaline. These results indicate that adrenergic mechanisms maintain Met-enkephalin concentrations tonically in median eminence and deplete Met-enkephalin concentrations in neurointermediate lobe. These results suggest differential adrenergic regulation of hypothalamic proenkephalin neurons terminating in median eminence and neural lobe of pituitary.
Asunto(s)
Encefalinas/fisiología , Hipotálamo/fisiología , Eminencia Media/fisiología , Neuronas/fisiología , Neurohipófisis/fisiología , Precursores de Proteínas/fisiología , Sistema Nervioso Simpático/fisiología , Animales , Encefalina Metionina/aislamiento & purificación , Encefalina Metionina/metabolismo , Hidroxidopaminas/farmacología , Hipotálamo/citología , Técnicas In Vitro , Masculino , Metoxamina/farmacología , Vías Nerviosas/fisiología , Oxidopamina , Ratas , Ratas Endogámicas , Reserpina/farmacología , Sistema Nervioso Simpático/efectos de los fármacosRESUMEN
The adverse effects of feeding Crotalaria pallida (CP) seeds to chicks was investigated in a 21-day randomized trial of 4 dietary treatments (control, 1,2 and 3% ground CP seeds). Mortality rates in birds fed 0, 1, 2, and 3% dietary CP were 0, 2.1, 6.2, and 16.7%, respectively. Body weight gain and feed efficiency were adversely affected by all levels of inclusion of CP seeds, but feed intake was decreased only by dietary levels of 2 and 3%. Dietary CP of 2 and 3% increased the relative weight of lung, heart and spleen. Relative liver weight was increased by 2% dietary CP, but decreased by 3% CP. At day 14, serum GGT was increased by 2 and 3% dietary CP; serum ALT was significantly increased by 3% CP. No differences in ALT, AST or GGT were observed at day 21. Dietary levels equal to or greater than 1% CP are toxic for growing broiler chicks.
Asunto(s)
Enfermedad Hepática Inducida por Sustancias y Drogas/veterinaria , Pollos , Crotalaria , Intoxicación por Plantas/veterinaria , Enfermedades de las Aves de Corral/inducido químicamente , Alanina Transaminasa/sangre , Alimentación Animal , Animales , Aspartato Aminotransferasas/sangre , Enfermedad Hepática Inducida por Sustancias y Drogas/etiología , Pruebas de Función Hepática/veterinaria , Masculino , Intoxicación por Plantas/etiología , Enfermedades de las Aves de Corral/mortalidad , Enfermedades de las Aves de Corral/patología , Semillas/toxicidad , gamma-Glutamiltransferasa/sangreRESUMEN
The relationship between portal tributary blood flow (PBF) and hepatic arterial blood flow (HAF) was studied in awake, unrestrained rats with the radiolabeled microsphere technique. Six distinct patterns of response emerged. In group A (PBF+, HAF 0), ethanol, acetate, glucagon, prostacyclin, and a mixed diet increased PBF without a change in HAF; in group B (PBF+, HAF+), adenosine and histamine increased both PBF and HAF; in group C (PBF 0, HAF+), isoflurane and triiodothyronine did not change PBF but increased HAF; and in group D (PBF-, HAF+), halothane and vasopressin decreased PBF and increased HAF. Acute partial portal vein ligation decreased PBF (56%) and increased HAF (436%). Hypoxia (7.5% O2) decreased PBF (28%) and increased HAF (110%). In group E (PBF+, HAF-), acute hepatic artery ligation increased PBF (35%) and reduced HAF (74%), while in group F (PBF-, HAF-), thyroidectomy reduced PBF and HAF (36 and 47%, respectively). All blood flow responses were accompanied by the expected changes in both portal tributary and hepatic arterial vascular resistances. The data suggest that the portal and hepatic arterial vascular territories have regulatory mechanisms that allow for independent changes.
Asunto(s)
Arteria Hepática/fisiología , Circulación Hepática , Vena Porta/fisiología , Acetatos/farmacología , Animales , Presión Sanguínea/efectos de los fármacos , Gasto Cardíaco/efectos de los fármacos , Epoprostenol/farmacología , Etanol/farmacología , Glucagón/farmacología , Circulación Hepática/efectos de los fármacos , Masculino , Microesferas , Ratas , Ratas Endogámicas , Flujo Sanguíneo Regional/efectos de los fármacos , Triyodotironina/farmacología , Resistencia Vascular/efectos de los fármacos , Vasopresinas/farmacologíaRESUMEN
Ethanol administered to rats has been shown to stimulate the hypothalamic-pituitary-adrenal axis. The present study describes alterations in brain CRF neuronal systems that accompanied the voluntary high consumption of ethanol by Wistar rats presented with a free choice between 6% ethanol and tap water. Hypothalamic CRF concentrations (outside median eminence) were significantly increased in animals with a high preference for ethanol whereas concentrations of CRF in neurointermediate pituitary and medulla-pons were significantly decreased. No changes of CRF levels were evident in median eminence, frontal cortex, midbrain, thalamus, or cerebellum. Brain CRF concentrations in two strains of mice with genetically determined differential alcohol preference were measured. In ethanol-naive mice, there were documented differences in CRF concentrations, with an increase in frontal cortex levels, and a decrease in medulla-pons levels in the ethanol-preferring strain (C57BL/6J) compared to the nonpreferring strain (C3H/CRGL/2). Thus, certain brain CRF neuronal systems are preferentially affected by high ethanol consumption, and pre-existing differences in these systems may even contribute to the development of a high preference for ethanol.
Asunto(s)
Consumo de Bebidas Alcohólicas/fisiología , Encéfalo/efectos de los fármacos , Hormona Liberadora de Corticotropina/metabolismo , Sistema Hipotálamo-Hipofisario/efectos de los fármacos , Sistema Hipófiso-Suprarrenal/efectos de los fármacos , Alcoholismo/genética , Animales , Tronco Encefálico/efectos de los fármacos , Lóbulo Frontal/efectos de los fármacos , Masculino , Eminencia Media/efectos de los fármacos , Ratones , Ratones Endogámicos , Ratas , Ratas Endogámicas , Especificidad de la EspecieRESUMEN
The link between endogenous opioid peptides and the genetic predisposition to preferentially consume ethanol was examined in alcohol preferring C57BL/6J mice compared with the alcohol nonpreferring DBA/2 mice. Concentrations of Met-enkephalin pentapeptide or precursor in various brain regions of potential relevance were not different between the two strains. C57BL/6J mice had a significantly lower pain threshold that could be increased by a selective mu-receptor opioid agonist [D-Ala2, MePhe4, Met(O)5-ol]-enkephalin. Treatment with this drug also decreased ethanol consumption in C57BL/6J mice. Increasing the synaptic half-life of endogenous enkephalins by the enkephalinase inhibitor kelatorphan also decreased ethanol consumption. Assay of endogenous enkephalin degrading activity showed increased enkephalinase activity in striatal issue of C57BL/6J compared with DBA/2 tissue. These results suggest that a relative lack of enkephalin peptides trans-synaptically, possibly resulting from enhanced enkephalin degradation may contribute to increase alcohol consumption in C57BL/6J mice.
Asunto(s)
Consumo de Bebidas Alcohólicas/genética , Endorfinas/fisiología , Consumo de Bebidas Alcohólicas/metabolismo , Secuencia de Aminoácidos , Animales , Encéfalo/metabolismo , Encefalina Metionina/metabolismo , Masculino , Ratones , Ratones Endogámicos C57BL , Ratones Endogámicos DBA , Datos de Secuencia Molecular , Neprilisina/metabolismo , Dimensión del Dolor , Radioinmunoensayo , Receptores Opioides/metabolismo , Receptores Opioides muRESUMEN
Activation of the N-methyl-D-aspartate (NMDA) receptor is important for certain forms of activity-dependent synaptic plasticity, such as long-term potentiation (reviewed in ref. 1), and the patterning of connections during development of the visual system (reviewed in refs 2, 3). Several subunits of the NMDA receptor have been cloned: these are NMDAR1 (NR1), and NMDAR2A, 2B, 2C and 2D (NR2A-D). Based on heterologous co-expression studies, it is inferred that NR1 encodes an essential subunit of NMDA receptors and that functional diversity of NMDA receptors in vivo is effected by differential incorporation of subunits NR2A-NR2D. Little is known, however, about the actual subunit composition or heterogeneity of NMDA receptors in the brain. By co-immunoprecipitation with subunit-specific antibodies, we present here direct evidence that NMDA receptors exist in rat neocortex as heteromeric complexes of considerable heterogeneity, some containing both NR2A and NR2B subunits. A progressive alteration in subunit composition seen postnatally could contribute to NMDA-receptor variation and changing synaptic plasticity during cortical development.
Asunto(s)
Corteza Cerebral/crecimiento & desarrollo , Receptores de N-Metil-D-Aspartato/química , Animales , Secuencia de Bases , Membrana Celular/química , Corteza Cerebral/química , Cartilla de ADN , Datos de Secuencia Molecular , Reacción en Cadena de la Polimerasa , Pruebas de Precipitina , ARN Mensajero/metabolismo , Ratas , Receptores de N-Metil-D-Aspartato/genéticaRESUMEN
Pfeiffer syndrome (PS) is one of the classical craniosynostosis syndromes correlated with specific mutations in the human fibroblast growth factor receptor (FGFR) genes, FGFR1 and FGFR2. In this study, we set out to examine the exons in FGFR2 most commonly associated with mutations in PS, exons IIIa and IIIc, in a panel of 78 unrelated individuals with PS by the most sensitive method (direct DNA sequencing). We have identified a total of 18 different mutations among 40 patients; eight of these mutations have not been previously described. The mutational spectrum displays a non-random character with the frequent involvement of cysteine codons.
Asunto(s)
Mutación , Proteínas Tirosina Quinasas Receptoras/genética , Receptores de Factores de Crecimiento de Fibroblastos/genética , Acrocefalosindactilia/genética , Empalme Alternativo , Secuencia de Aminoácidos , Sustitución de Aminoácidos , Codón , Cisteína , Exones , Humanos , Datos de Secuencia Molecular , Mutación Missense , Mutación Puntual , Conformación Proteica , Proteínas Tirosina Quinasas Receptoras/química , Receptor Tipo 1 de Factor de Crecimiento de Fibroblastos , Receptor Tipo 2 de Factor de Crecimiento de Fibroblastos , Receptores de Factores de Crecimiento de Fibroblastos/químicaRESUMEN
Authors present a case of Maestre de San Juan-Kallman syndrome in a male 14 year old, with hypogonadotrophic hypogonadism and anosmia, and with other associated malformations (cryptorchism, epilepsy, hypoacusia and chromosomal anomalies). Standard values of FSH and LH are undetectable. After stimulation with LH-RH, a continued release of gonadotropins is produced. With the clomiphene stimulation there is a negative response.
Asunto(s)
Anomalías Múltiples/sangre , Gonadotropinas Hipofisarias/deficiencia , Hipogonadismo/sangre , Trastornos del Olfato/sangre , Adolescente , Aberraciones Cromosómicas , Clomifeno , Criptorquidismo/sangre , Epilepsia/sangre , Hormona Liberadora de Gonadotropina , Humanos , Masculino , SíndromeRESUMEN
The development and systematic use of microserological techniques have allowed to identify the etiology of a higher number of respiratory diseases, that could hardly have been considered some years ago and that now are known to play a more common role in clinical practice than usually thought. In the present study, the clinical, radiological and epidemiological features of seven patients are reported; they were seen in our health center during a 16 month period and the diagnosis of Chlamydia psittaci pneumonia was made by serological studies. All patients were treated with erithromycin, with favorable clinical and radiological outcome. Psittacosis is a condition that should be considered as a cause of community acquired pneumonia even in the absence of suggestive epidemiological background.