RESUMEN
The aim of the present work was to evaluate the potential activity of α-lactoalbumin (ALAC), a whey protein rich in tryptophan (TRP), in two rodent models of epileptogenesis and we explored a possible mechanism of action. The effects of ALAC (oral administration) were tested in two standard epileptogenesis protocols, namely the pilocarpine post-status epilepticus model in mice and the WAG/Rij rat model of absence epileptogenesis. The mechanism of action was investigated by assessing the effects of ALAC in two seizure models (N-methyl-d-aspartate (NMDA) and pentylenetetrazol (PTZ) -induced seizures) including d-serine co-administration. ALAC showed protecting properties in both models of epileptogenesis, reducing spontaneous seizures development. In acute seizure models, ALAC possessed antiseizure properties at some of the doses tested (PTZ-seizures: >50% seizure-reduction between 250 and 375 mg/kg; NMDA-seizures: >90% reduction at 250 and 500 mg/kg). When a dose of d-serine ineffective per se was co-administered with ALAC, ALAC effects were significantly reversed in both models. ALAC is active in experimental models of seizure and epileptogenesis. Its effects are likely mediated by the inhibition of NMDA receptors at the glycine binding site, possibly secondarily to the in vivo enzymatic conversion of ALAC-generated tryptophan to kynurenic acid. However, other mechanisms of action contributing to ALAC effects cannot be excluded.
Asunto(s)
Epilepsia/inducido químicamente , Epilepsia/prevención & control , Lactalbúmina/farmacología , Proteínas de la Leche/farmacología , Triptófano/farmacología , Animales , Convulsivantes , Epilepsia/patología , Epilepsia Tipo Ausencia/inducido químicamente , Epilepsia Tipo Ausencia/prevención & control , Agonistas de Aminoácidos Excitadores , Antagonistas de Aminoácidos Excitadores , Hipocampo/patología , Ácido Quinurénico , Lactalbúmina/química , Ratones , Ratones Endogámicos C57BL , Ratones Endogámicos DBA , Proteínas de la Leche/química , N-Metilaspartato , Pentilenotetrazol , Pilocarpina , Ratas , Triptófano/química , Proteína de Suero de LecheRESUMEN
Formaldehyde, already classified as potentially carcinogen and recently as "human carcinogen" by IARC, is generally used for fixing and preserving anatomical findings. This reason causes a problem of professional exposure for the operators who use the formaldehyde for this purpose. In this work we present the results of the periodical monitoring which is done for the determination of the exposure at formaldehyde in operating theatres and surgeries, where the operator fill the special container with the anatomical findings andformaldehyde for following tests. The measurements have been done using an instrument that continuously measure the concentration of formaldehyde, based on the infrared spectrometry, in 54 rooms which are operating theatres or surgeries in 9 public hospitals in Campania (Italy). The results show that the long-term exposure limits are not exceeded and that the average of the highest values of concentration obtained during its use was 0.15 +/- 0.04 ppm, that is below the limits. It is important to point out that such a limit was never exceeded during every single measurement. Finally, analyzing statistically the data, we can infer that the probability of exceeding the short-term limit is less than 0.1%, when formaldehyde is used for the purposes mentioned above.
Asunto(s)
Fijadores/análisis , Formaldehído/análisis , Exposición Profesional/análisis , Quirófanos , Conservación de Tejido , HumanosRESUMEN
AIM: The Cri du Chat syndrome (SCdC / [OMIM #123450]) is a rare disease characterized by the deletion of the short arm of chromosome 5. The typical clinical features are the cat-like cry, microcephaly, a distinct facial phenotype and a severe psychomotor and mental retardation. The aim of this study was to provide an analysis on the data concerning the life quality and families assistance to whom have a child affected by Cri du Chat syndrome such as: the life's change of parents after the child's birth, the frequency of treatments, the collaboration between family and center of reference. METHODS: We have also analyzed the improvement obtained, the type of school attended, the aide and the time spent at home in postprimary education. Through a questionnaire sent to 100 families, we have been picked up information on 76 patients. RESULTS: These families have to adapt to the reality of a child with a rare genetic disorder for which there are no pharmacological or surgical therapies. CONCLUSION: Therefore, it seems important to give information and tips for dealing with the disease and the early start of rehabilitation and educational therapy.
Asunto(s)
Síndrome del Maullido del Gato/genética , Síndrome del Maullido del Gato/rehabilitación , Calidad de la Atención de Salud , Calidad de Vida , Adolescente , Síndrome del Maullido del Gato/diagnóstico , Síndrome del Maullido del Gato/epidemiología , Humanos , Lactante , Discapacidad Intelectual/genética , Italia/epidemiología , Microcefalia/genética , Encuestas y Cuestionarios , Adulto JovenRESUMEN
AIM: Severe endometriosis represents one of the most challenging clinical and surgical cases in gynecology. Preoperative assessment of the extension of the disease is of key relevance to opt for medical or surgical therapy and, sometimes, to plan a multidisciplinary approach. METHODS: A systematic diagnostic approach is proposed and evaluated in a tertiary referral centre. It is based on an initial clinical evaluation and a second level ultrasound of the pelvis. Further exams, whenever required, have to be aimed at demonstrating specific involvements of organs other than ovaries and peritoneum such as bowel, urinary tract and nerves. RESULTS: The application of the proposed protocol has led to a reduction of the number of non-radical surgical procedures due to incomplete consent associated with missed diagnosis over the years (P<0.001). CONCLUSION: Our findings support the efficacy of a systematic diagnostic approach to endometriosis. This allows a correct planning of therapy with a multidisciplinary approach when necessary.
Asunto(s)
Endometriosis/diagnóstico , Pelvis , Cuidados Preoperatorios/métodos , Adulto , Femenino , HumanosRESUMEN
Thirty Italian children, 7-9 year aged, living in Naples were investigated on their dietary habits and on polycyclic aromatic hydrocarbon (PAH) exposure by a food diary-questionnaire and one week duplicate diet sample analyses. Daily total food consumption mean value was 632 +/- 215 g day(-1), median value 613 g day(-1). The daily energy intake and the diet composition meanly agreed with the official guidelines for the Italian children. Sixteen PAHs were simultaneously detected and, according to the European Food Safety Authority (EFSA) approach, benzo[a]pyrene; benzo[a]pyrene + chrysene (PAH2); PAH2 + benz[a]anthracene + benzo[b]fluoranthene (PAH4); PAH4 + benzo[k]fluoranthene + benzo[ghi]perylene + dibenz[a, h]anthracene + indeno[1,2,3-cd]pyrene (PAH8) were considered in evaluating the children's dietary exposure to PAHs. The benzo[a]pyrene (BaP) median concentrations in foods varied from 0.06 to 0.33 microg kg(-1). Only three samples of cooked foods (one fish and two meat samples) exceeded legal limits fixed by the European Union for BaP. Daily median intakes of benzo[a]pyrene, PAH2, PAH4, and PAH8 were 153; 318; 990; 1776 ng day(-1); their median exposure values were 5; 10; 28; 54 ng kg(-1) bw day(-1). The Margins of Exposure (MOEs) in median consumers agreed with the EFSA safety values except for PAH8.
Asunto(s)
Exposición a Riesgos Ambientales , Conducta Alimentaria , Contaminación de Alimentos , Hidrocarburos Policíclicos Aromáticos/análisis , Carcinógenos Ambientales/análisis , Niño , Dieta , Registros de Dieta , Exposición a Riesgos Ambientales/normas , Femenino , Análisis de los Alimentos/métodos , Humanos , Italia , Límite de Detección , MasculinoRESUMEN
BACKGROUND: The purpose of the study was to compare the accuracy of double-contrast barium enema (DCBE) and magnetic resonance imaging (MRI) in the diagnosis of intestinal endometriosis using the histological examination on resected specimen as comparative standard. METHODS: Eighty-three consecutive patients with suspected intestinal endometriosis, resected between 2005 and 2007, were prospectively evaluated. All of the women underwent preoperative DCBE and MRI on the same day. We evaluated number, site (rectum, sigmoid, cecum), and size of the lesions. The imaging findings were correlated with those resulting at pathology. RESULTS: Among the 65 women who underwent surgery, 50/65 (76.9%) were found to have bowel endometriosis, with 9/50 (18%) patients presenting two lesions; DCBE allowed to detect 50/59 (84.7%) lesions. MRI allowed to detect 42/59 (71.1%) lesions. DCBE showed sensibility, specificity, PPV, NPV, and accuracy of respectively 84.7, 93.7, 98.0, 62.5, and 86.6%, MRI of 71.1, 83.3, 93.3, 46.8, and 74.6%. CONCLUSION: DCBE is more accurate than unenhanced MRI in the diagnosis of bowel endometriosis, and should be preferred in the preoperative management of this disease, since it usually enables a proper surgical planning.
Asunto(s)
Sulfato de Bario , Enfermedades del Colon/diagnóstico , Medios de Contraste , Endometriosis/diagnóstico , Imagen por Resonancia Magnética , Tomografía Computarizada por Rayos X , Adulto , Enfermedades del Colon/diagnóstico por imagen , Enfermedades del Colon/patología , Endometriosis/diagnóstico por imagen , Endometriosis/patología , Enema , Femenino , Humanos , Valor Predictivo de las Pruebas , Enfermedades del Recto/diagnóstico , Enfermedades del Recto/diagnóstico por imagen , Enfermedades del Recto/patología , Sensibilidad y Especificidad , Adulto JovenRESUMEN
Mowat-Wilson syndrome (MWS; OMIM #235730) is a genetic condition caused by heterozygous mutations or deletions of the ZEB2 gene, and characterized by typical face, moderate-to-severe mental retardation, epilepsy, Hirschsprung disease, and multiple congenital anomalies, including genital anomalies (particularly hypospadias in males), congenital heart defects, agenesis of the corpus callosum, and eye defects. Since the first delineation by Mowat et al. [Mowat et al. (1998); J Med Genet 35:617-623], approximately 179 patients with ZEB2 mutations, deletions or cytogenetic abnormalities have been reported primarily from Europe, Australia and the United States. Genetic defects include chromosome 2q21-q23 microdeletions (or different chromosome rearrangements) in few patients, and ZEB2 mutations in most. We report on clinical and genetic data from 19 Italian patients, diagnosed within the last 5 years, including six previously published, and compare them with patients already reported. The main purpose of this review is to underline a highly consistent phenotype and to highlight the phenotypic evolution occurring with age, particularly of the facial characteristics. The prevalence of MWS is likely to be underestimated. Knowledge of the phenotypic spectrum of MWS and of its changing phenotype with age can improve the detection rate of this condition.
Asunto(s)
Anomalías Múltiples/genética , Envejecimiento/fisiología , Anomalías Craneofaciales/genética , Proteínas de Homeodominio/genética , Fenotipo , Proteínas Represoras/genética , Anomalías Múltiples/diagnóstico , Adolescente , Niño , Preescolar , Cromosomas Artificiales Bacterianos , Dextranos/metabolismo , Femenino , Colorantes Fluorescentes/metabolismo , Heterocigoto , Enfermedad de Hirschsprung/genética , Humanos , Hibridación Fluorescente in Situ , Indoles/metabolismo , Lactante , Discapacidad Intelectual/genética , Italia , Masculino , Mutación , Hibridación de Ácido Nucleico , Análisis de Secuencia por Matrices de Oligonucleótidos , Reacción en Cadena de la Polimerasa , Síndrome , Adulto Joven , Caja Homeótica 2 de Unión a E-Box con Dedos de ZincRESUMEN
The aim of this study was to evaluate the efficacy of anaesthetic gases monitoring in the operating theatre. From January 1997 to December 2007, in compliance with the Ministerial Circular on Professional anaesthetic exposure in operating theatres (5/89), we conducted an environmental monitoring of nitrous oxide (N2O) in 71 operating rooms of 31 public hospitals to determine the respect of limits established by circular (50 ppm). The results show that number of surgery rooms with airborne concentrations of nitrous oxide outside normative limits reduced varying approximately from 40% without monitoring activity, to 15% after a cycle of 10 monitorings. This study demonstrate that the environmental monitoring is crucial, efficacy and should be the first step in developing work practices and worker education programs. To the best of our knowledge, this study demonstrates the efficacy of anaesthetic gases monitoring in the operating theatre was evaluated.
Asunto(s)
Contaminantes Ocupacionales del Aire/análisis , Contaminación del Aire Interior/análisis , Monitoreo del Ambiente , Óxido Nitroso/análisis , Quirófanos/normas , Humanos , Exposición Profesional , Sensibilidad y Especificidad , Espectrofotometría Infrarroja , Factores de TiempoRESUMEN
In spite of the large number of antiepileptic drugs (AEDs) actually available, the problem of drug-resistant epilepsy has not been solved. No AEDs are efficacious in patients with pharmacoresitant epilepsy, so new hypothesises about the mechanisms of pharmacoresistance are needed. In the last years the ideas on the role of brain serotonin in epilepsy have been turned upside down: increasing the available brain serotonin is thought now to have an antiepileptic effect. Antidepressant drugs like selective serotonin re-uptake inhibitors, i.e., fluoxetine, have proved to be useful in seizure control. Tryptophan (Trp), an essential amino acid, is the only brain precursor of serotonin, it competes with the other large neutral amino acids (LNAAs) for the carrier of blood-brain barrier (BBB). Our own data has shown a lowering of plasmatic LNAA levels in epileptic patients, on the basis of these results we could estimate a decrease of a 1/3 in the Trp brain intake rate in epileptics in respect to controls. Increasing plasmatic Trp levels increases brain serotonin synthesis. Trp and 5-hydroxytryptophan (5-HTP) were tested as an add on in epilepsy, but the clinical outcome was controversial. Free amino acids are not fully adsorbed by the gastro-intestinal system, furthermore LNAAs, and also 5-HTP is a LNAA, compete to cross the intestinal membrane for the same carrier, like for the BBB. The best way to increase the plasmatic Trp level is a protein rich in Trp and poor in the other LNAAs. Unfortunately Trp is a limited amino acid in proteins. We report the clinical results obtained by adding a whey protein to the antiepileptic therapy of drug-resistant epileptic patients: alpha-lactoalbumin, rich in Trp and poor in the other LNAAs.
Asunto(s)
Encéfalo/metabolismo , Encéfalo/patología , Resistencia a Medicamentos , Epilepsia/sangre , Epilepsia/metabolismo , Epilepsia/patología , Serotonina/metabolismo , Barrera Hematoencefálica , Humanos , Lactalbúmina/metabolismo , Modelos Biológicos , Modelos Teóricos , Proyectos Piloto , Convulsiones/prevención & control , Serotonina/farmacología , Factores de Tiempo , Triptófano/químicaRESUMEN
For many years, the ketogenic diet, including recent variants such the medium-chain triglyceride (MCT) diet, has been used with good clinical results in the management of refractory epilepsies, particularly in children. The antiepileptic effects of the diet, like the antiepileptic effects of starvation, have been attributed to accumulation of ketones, and there are experimental data in animal models to support this hypothesis. Recently, new data about the neuroendocrine response to the acute phase reaction (stress) have emerged, indicating involvement of various neuropeptides, including neuropeptide Y (NPY), which is considered as an endogenous anticonvulsant. The release of NPY is also stimulated by nutrients in the gut, particularly fats. Long-chain and, to a greater extent, medium-chain triglycerides, which are components of the ketogenic diet, stimulate NPY secretion. This effect may explain the improvement in seizure control after starvation, use of the classical ketogenic diet, and use of the MCT diet.
Asunto(s)
Anticonvulsivantes/uso terapéutico , Dieta , Cuerpos Cetónicos/uso terapéutico , Neuropéptido Y/uso terapéutico , Humanos , Neuropéptido Y/fisiología , Evaluación Nutricional , Convulsiones/tratamiento farmacológico , Convulsiones/prevención & controlRESUMEN
In this study the microbiological, physical and chemical results of an investigation concerning the environmental conditions of operating theatres in 38 public hospitals of the Campania Government are presented. The analysis of the results has been made by considering specific standards suggested by national and international regulations. The results showed that 84% of the operating theatres presented normal microbiological values, in relation to the total bacterial load, while 16% did not. By considering the microclimatic monitoring 55% of the operating theatres showed normal values while 45% at least a microclimatic index did not. In relation to the concentrations of anaesthetics gases the survey pointed out that the nitrous oxides was within non prescribed environmental limits (50 ppm for N2O); while 15% of the halogenated was not in normal values.
Asunto(s)
Contaminación del Aire Interior , Quirófanos/normas , Microbiología del Aire , Anestésicos por Inhalación/análisis , Monitoreo del Ambiente , Humanos , Italia , Microclima , National Institute for Occupational Safety and Health, U.S. , Óxido Nitroso/análisis , Estados UnidosRESUMEN
The widely used antidepressants Specific Serotonin Reuptake Inhibitors (SSRI) have been tried with success as anticonvulsants in cases of nonsymptomatic epilepsy. This attempt was performed on the basis of experimental data suggesting the involvement of impairments of the serotonin system in the genesis of epilepsy. This overview summarizes the clinical data and presents biochemical and neurochemical evidences suggesting the mechanism of the therapeutic effects of SSRI in nonsymptomatic epilepsy. In particular, studies on blood-borne neutral amino acids and platelet serotonin transporter (SERT) in epileptics suggest: (a) That a decreased brain availability of tryptophan may be related to some types of epilepsy. (b) That reduction of the density of SERT may be a homeostatic reaction in the brain following epileptic seizures.
Asunto(s)
Epilepsia/tratamiento farmacológico , Inhibidores Selectivos de la Recaptación de Serotonina/uso terapéutico , Adolescente , Adulto , Anciano , Aminoácidos/metabolismo , Citalopram/uso terapéutico , Ensayos Clínicos como Asunto , Epilepsia/metabolismo , Epilepsia/fisiopatología , Femenino , Fluoxetina/uso terapéutico , Humanos , Masculino , Persona de Mediana Edad , Triptófano/metabolismoRESUMEN
Hypospadias, when the urethra opens on the ventral side of the penis, is a common malformation seen in about 3 per 1,000 male births. It is a complex disorder associated with genetic and environmental factors and can be part of genetic syndromes. Mowat-Wilson syndrome (MWS) is a multiple congenital anomaly syndrome characterized by a distinct facial phenotype, Hirschsprung disease, microcephaly and mental retardation. It is caused by mutations in the zinc finger homeo box 1B gene, ZFHX1B (SIP1). To date, 68 deletion/mutation-positive cases have been reported. Genitourinary anomalies are common in MWS. Here we report that hypospadias is common in males with this syndrome. In 39 patients where this information was available, hypospadias was present in 46% of patients (18/39). In the 3 Italian male cases reported here, hypospadias was always present. MWS should be considered by endocrinologists in patients with hypospadias associated with developmental delays/mental retardation, in particular in the presence of a distinct facial phenotype.
Asunto(s)
Cromosomas Humanos Par 2/genética , Proteínas de Homeodominio/genética , Hipospadias/genética , Mutación Puntual , Proteínas Represoras/genética , Preescolar , Análisis Mutacional de ADN , Humanos , Hipospadias/complicaciones , Hipospadias/patología , Lactante , Recién Nacido , Discapacidad Intelectual/etiología , Discapacidad Intelectual/patología , Masculino , Microcefalia/etiología , Microcefalia/patología , Fenotipo , Síndrome , Caja Homeótica 2 de Unión a E-Box con Dedos de ZincAsunto(s)
Anomalías Múltiples/genética , Anomalías Craneofaciales/genética , Enfermedad de Hirschsprung/genética , Proteínas de Homeodominio/genética , Discapacidad Intelectual/genética , Microcefalia/genética , Mutación/genética , Proteínas Represoras/genética , Convulsiones/genética , Anomalías Múltiples/diagnóstico , Adolescente , Preescolar , Anomalías Craneofaciales/diagnóstico , Femenino , Enfermedad de Hirschsprung/diagnóstico , Humanos , Discapacidad Intelectual/diagnóstico , Masculino , Microcefalia/diagnóstico , Convulsiones/diagnóstico , Síndrome , Caja Homeótica 2 de Unión a E-Box con Dedos de Zinc , Dedos de Zinc/genéticaRESUMEN
GABAA receptors of cerebellar granule cells obtained from neonatal rats and kept in culture were studied by labelled muscimol binding. The data show that, according to the maturational state of those cells in vivo, one or two binding components appear. The low affinity component seems to be the one appearing later. The expression of this component seems to be regulated by protein tyrosine phosphorylation. In fact, its expression is down regulated by the protein tyrosine kinase (PTK) inhibitor, genistein. Viceversa, its expression is upregulated by insulin like growth factor I (IGF-I), most probably via PTK activation. A possible interpretation of the data is that in vivo IGF-I is one of the endogenous messages leading to the expression of this component during development. Another endogenous factor involved may be GABA itself. Low affinity GABAA receptors appear to be the ones involved in inhibitory synaptic transmission at glomeruli. Whereas the high affinity ones probably correspond to extrasynaptic GABAA receptors mediating the tonic form of inhibition in cerebellar granules.
Asunto(s)
Cerebelo/metabolismo , Muscimol/metabolismo , Neuronas/metabolismo , Receptores de GABA-A/metabolismo , Ácido gamma-Aminobutírico/metabolismo , Animales , Animales Recién Nacidos , Células Cultivadas , Cerebelo/citología , Inhibidores Enzimáticos/farmacología , Agonistas del GABA/metabolismo , Genisteína/farmacología , Factor I del Crecimiento Similar a la Insulina/metabolismo , Muscimol/química , Neuronas/efectos de los fármacos , Unión Proteica , Ratas , Ratas Sprague-Dawley , Receptores de GABA-A/genética , Tritio/químicaRESUMEN
The majority of deletions of the short arm of chromosome 5 are associated with cri du chat syndrome (CdCS) and patients show phenotypic and cytogenetic variability. To perform a genotype-phenotype correlation, 80 patients from the Italian CdCS Register were analysed. Molecular cytogenetic analysis showed that 62 patients (77.50%) had a 5p terminal deletion characterised by breakpoint intervals ranging from p13 (D5S763) to p15.2 (D5S18). Seven patients (8.75%) had a 5p interstitial deletion, four (5%) a de novo translocation, and three (3.75%) a familial translocation. Of the remaining four patients, three (3.75%) had de novo 5p anomalies involving two rearranged cell lines and one (1.25%) had a 5p deletion originating from a paternal inversion. The origin of the deleted chromosome 5 was paternal in 55 out of 61 patients (90.2%). Genotype-phenotype correlation in 62 patients with terminal deletions highlighted a progressive severity of clinical manifestation and psychomotor retardation related to the size of the deletion. The analysis of seven patients with interstitial deletions and one with a small terminal deletion confirmed the existence of two critical regions, one for dysmorphism and mental retardation in p15.2 and the other for the cat cry in p15.3. Results from one patient permitted the cat cry region to be distally narrowed from D5S13 to D5S731. Furthermore, this study lends support to the hypothesis of a separate region in p15.3 for the speech delay.
Asunto(s)
Deleción Cromosómica , Cromosomas Humanos Par 5/genética , Síndrome del Maullido del Gato/genética , Adolescente , Adulto , Niño , Preescolar , Aberraciones Cromosómicas , Bandeo Cromosómico , Síndrome del Maullido del Gato/patología , Análisis Citogenético , Discapacidades del Desarrollo/patología , Femenino , Genotipo , Humanos , Lactante , Cariotipificación , Masculino , Microcefalia/patología , Fenotipo , Trastornos Psicomotores/patologíaRESUMEN
Low birth weight and slow growth are frequently observed in the patients with cri-du-chat syndrome. To provide a growth reference standard for children with cri-du-chat syndrome, syndrome-specific growth charts have been developed from a combination of cross-sectional and longitudinal measurements on 374 patients from North America, Italy, Australia, and the British Isles. The data were obtained from pediatric records, parent reporting, and personal examinations at national 5p- parent support group meetings in the U.S., Italy, U.K., and Australia. The growth curves include height and weight measurements for patients ages 0 to 18 years and head circumference measurements for patients ages 0 to 15 years. Birth weight was above the 5th percentile of general population in 50% of cases: mean weight 2.8 kg +/- 1.85 SD for males and 2.6 kg +/- 1.51 SD for females. Growth curve medians were usually at or below the 5th centile of reference populations throughout life. The median head circumference falls below the 2nd centile, and this change increases with age. The charts show that compared with the standard population, most children with cri-du-chat syndrome are small at birth and as they grow most, but not all, have significant microcephaly and compromised weight for age, and to a lesser extent, compromised height for age. Am. J. Med. Genet. 94:153-162, 2000.
Asunto(s)
Síndrome del Maullido del Gato/fisiopatología , Trastornos del Crecimiento/fisiopatología , Adolescente , Estatura , Peso Corporal , Niño , Preescolar , Cromosomas Humanos Par 5 , Síndrome del Maullido del Gato/genética , Femenino , Humanos , Lactante , Recién Nacido de Bajo Peso , Recién Nacido , MasculinoAsunto(s)
Síndrome del Maullido del Gato/genética , Trastornos Psicomotores/genética , Adolescente , Adulto , Niño , Preescolar , Cromosomas Humanos Par 5 , Discapacidades del Desarrollo/genética , Eliminación de Gen , Humanos , Lactante , Discapacidad Intelectual/genética , Estudios Retrospectivos , Encuestas y Cuestionarios , Translocación GenéticaRESUMEN
The effect of nitric oxide donors and L-arginine on the uptake of GABA was studied in synaptosomes purified from rat brain. The neurotransmitter uptake was significantly reduced by S-nitrosoacetylpenicillamine and by sodium nitroprusside, although in this case to a lesser extent. A slight inhibitory effect was found preincubating rat brain synaptosomes with 1 mM L-arginine as well. The S-nitrosoacetylpenicillamine effect gradually disappeared with decomposition of the substance by exposure to light. The nitric oxide effect appears to be mainly due to a decrease in the V for synaptosomal GABA uptake and seems to be related to a partial collapse of nerve endings ionic gradients. Functionally, it could result over time in a reduced availability of GABA at the synapses involved.