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1.
Encephale ; 48(3): 254-264, 2022 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-34686318

RESUMEN

BACKGROUND: Recent changes in psychiatric care and teaching that limit patient contact for medical students can be overcome in part by simulation-based education. Understanding the learning processes of medical students involved in psychiatric simulation-based programmes could usefully inform efforts to improve this teaching. This study explored the learning processes of medical students the first time they role-play in psychiatry. METHODS: We used constructivist grounded theory to analyse semi-structured interviews of 13 purposively sampled medical students and the six psychiatrists who trained them. To improve the triangulation process, the results of this analysis were compared with those of the analyses of the role-play video and the debriefing audio-tapes. RESULTS: Five organising themes emerged: improving the students' immediate perception of patients with mental disorders; cultivating clinical reasoning; managing affect; enhancing skills and attitudes and fostering involvement in learning psychiatry. CONCLUSION: Results suggest that psychiatric role-playing can improve students' progressive understanding of psychiatry through the development of intuition and by allaying affects. Emotional elaboration and student involvement appear to be key features.


Asunto(s)
Educación Médica , Psiquiatría , Estudiantes de Medicina , Teoría Fundamentada , Humanos , Psiquiatría/educación , Desempeño de Papel , Estudiantes de Medicina/psicología
2.
Mol Genet Metab ; 124(1): 87-93, 2018 05.
Artículo en Inglés | MEDLINE | ID: mdl-29661558

RESUMEN

INTRODUCTION: Cerebral folate deficiency (CFD) syndromes are defined as neuro-psychiatric conditions with low CSF folate and attributed to different causes such as autoantibodies against the folate receptor-alpha (FR) protein that can block folate transport across the choroid plexus, FOLR1 gene mutations or mitochondrial disorders. High-dose folinic acid treatment restores many neurologic deficits. STUDY AIMS AND METHODS: Among 36 patients from 33 families the infantile-onset CFD syndrome was diagnosed based on typical clinical features and low CSF folate. All parents were healthy. Three families had 2 affected siblings, while parents from 4 families were first cousins. We analysed serum FR autoantibodies and the FOLR1 and FOLR2 genes. Among three consanguineous families homozygosity mapping attempted to identify a monogenetic cause. Whole exome sequencing (WES) was performed in the fourth consanguineous family, where two siblings also suffered from polyneuropathy as an atypical finding. RESULTS: Boys (72%) outnumbered girls (28%). Most patients (89%) had serum FR autoantibodies fluctuating over 5-6 weeks. Two children had a genetic FOLR1 variant without pathological significance. Homozygosity mapping failed to detect a single autosomal recessive gene. WES revealed an autosomal recessive polynucleotide kinase 3´phosphatase (PNKP) gene abnormality in the siblings with polyneuropathy. DISCUSSION: Infantile-onset CFD was characterized by serum FR autoantibodies as its predominant pathology whereas pathogenic FOLR1 gene mutations were absent. Homozygosity mapping excluded autosomal recessive inheritance of any single responsible gene. WES in one consanguineous family identified a PNKP gene abnormality that explained the polyneuropathy and also its contribution to the infantile CFD syndrome because the PNKP gene plays a dual role in both neurodevelopment and immune-regulatory function. Further research for candidate genes predisposing to FRα-autoimmunity is suggested to include X-chromosomal and non-coding DNA regions.


Asunto(s)
Autoanticuerpos/sangre , Encefalopatías Metabólicas Innatas/genética , Receptor 1 de Folato/inmunología , Deficiencia de Ácido Fólico/genética , Adolescente , Encefalopatías Metabólicas Innatas/líquido cefalorraquídeo , Encefalopatías Metabólicas Innatas/diagnóstico , Niño , Preescolar , Consanguinidad , Enzimas Reparadoras del ADN/genética , Diagnóstico Diferencial , Familia , Femenino , Receptor 1 de Folato/genética , Receptor 2 de Folato/genética , Ácido Fólico/líquido cefalorraquídeo , Deficiencia de Ácido Fólico/líquido cefalorraquídeo , Deficiencia de Ácido Fólico/diagnóstico , Humanos , Lactante , Masculino , Fosfotransferasas (Aceptor de Grupo Alcohol)/genética , Polineuropatías/etiología , Secuenciación del Exoma , Adulto Joven
3.
Pathol Biol (Paris) ; 47(1): 73-80, 1999 Jan.
Artículo en Francés | MEDLINE | ID: mdl-10081783

RESUMEN

Helicidine is a biological extract prepared from the snail Helix pomatia L. and used in man as an anti-tussive agent. However, its mechanisms of action are not fully defined. In this study, we have investigated a possible relaxant effect of helicidine on guinea-pig airway smooth muscle and evaluated the role of prostanoids and airway epithelium in this relaxation. H. pomatia extract (0.001-1 mg/ml) induced a dose-dependent relaxation of guinea-pig trachea pre-contracted with histamine both in the presence and absence of tracheal epithelium. No significant difference in dose-dependency or magnitude of the relaxation was observed between tracheal segments with or without epithelium (maximal relaxant response of 35 +/- 7 and 25 +/- 7.5%, respectively). Relaxation of the trachea induced by H. pomatia extract (0.001-1 mg/ml) was inhibited by pre-treatment with the cyclooxygenase inhibitor, indomethacin, both in the presence or absence of tracheal epithelium. H. pomatia extract (1 mg/ml) induced a marked and significant increase in prostaglandin E2 release in tracheal segments with and without epithelium. These results indicate that helicidine possesses a broncho-relaxant activity which is independent of epithelium integrity and which is partly mediated by the release of the relaxant prostanoid, prostaglandin E2. The origin of prostaglandin E2 production in the airways remains to be defined.


Asunto(s)
Broncodilatadores/farmacología , Dinoprostona/metabolismo , Caracoles Helix , Extractos de Tejidos/farmacología , Tráquea/efectos de los fármacos , Animales , Inhibidores de la Ciclooxigenasa/farmacología , Evaluación Preclínica de Medicamentos , Eicosanoides/biosíntesis , Cobayas , Indometacina/farmacología
4.
J Neurol Sci ; 156(2): 177-9, 1998 Apr 01.
Artículo en Inglés | MEDLINE | ID: mdl-9588854

RESUMEN

A 24-year-old male, who suffered since childhood from a progressive form of ataxia associated with peripheral neuropathy, was found severely deficient in serum vitamin E. He walked with bilateral aid and presented severe dysmetria of the limbs and dysarthric speech; muscular strength and trophism were slightly diminished in the distal muscles of four limbs and there was hypotonia of the arms; he presented absent deep tendon reflexes, bilateral Babinski's sign, reduced proprioception at four limbs, pes cavus and fasciculations of the tongue. Intestinal fat malabsorption and other gastrointestinal or haematological conditions associated with deficiency of this vitamin were ruled out. In this patient, after 2 years of a daily supplement of high doses of vitamin E, a further progression of the disease was not observed and, moreover, the neurophysiological characteristics of his neuropathy appeared clearly improved. A longitudinal evaluation of serum vitamin E levels showed values in the normal range after 13 months of therapy. The patient had molecular genetic analysis of chromosome 8 and was found homozygous for the unusual mutation 513insTT in the alpha-tocopherol transfer protein gene.


Asunto(s)
Ataxia/tratamiento farmacológico , Enfermedad de Refsum/tratamiento farmacológico , Deficiencia de Vitamina E/tratamiento farmacológico , Administración Oral , Adulto , Ataxia/fisiopatología , Ataxia/prevención & control , Suplementos Dietéticos , Humanos , Masculino , Enfermedad de Refsum/fisiopatología , Enfermedad de Refsum/prevención & control , Vitamina E/uso terapéutico , Deficiencia de Vitamina E/genética , Deficiencia de Vitamina E/fisiopatología
5.
Am J Hum Genet ; 62(2): 301-10, 1998 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-9463307

RESUMEN

Ataxia with vitamin E deficiency (AVED), or familial isolated vitamin E deficiency, is a rare autosomal recessive neurodegenerative disease characterized clinically by symptoms with often striking resemblance to those of Friedreich ataxia. We recently have demonstrated that AVED is caused by mutations in the gene for alpha-tocopherol transfer protein (alpha-TTP). We now have identified a total of 13 mutations in 27 families. Four mutations were found in >=2 independent families: 744delA, which is the major mutation in North Africa, and 513insTT, 486delT, and R134X, in families of European origin. Compilation of the clinical records of 43 patients with documented mutation in the alpha-TTP gene revealed differences from Friedreich ataxia: cardiomyopathy was found in only 19% of cases, whereas head titubation was found in 28% of cases and dystonia in an additional 13%. This study represents the largest group of patients and mutations reported for this often misdiagnosed disease and points to the need for an early differential diagnosis with Friedreich ataxia, in order to initiate therapeutic and prophylactic vitamin E supplementation before irreversible damage develops.


Asunto(s)
Ataxia/genética , Proteínas Portadoras/genética , Variación Genética , Mutación , Regiones Promotoras Genéticas , Deficiencia de Vitamina E/genética , Adolescente , Adulto , África del Norte , Edad de Inicio , Ataxia/clasificación , Ataxia/complicaciones , Secuencia de Bases , Niño , Preescolar , Diagnóstico Diferencial , Europa (Continente) , Familia , Femenino , Humanos , Masculino , Persona de Mediana Edad , Datos de Secuencia Molecular , Fenotipo , Mutación Puntual , Eliminación de Secuencia , Deficiencia de Vitamina E/complicaciones
6.
Neuroreport ; 8(4): 963-8, 1997 Mar 03.
Artículo en Inglés | MEDLINE | ID: mdl-9141073

RESUMEN

Huperzine a, a potential therapeutic agent for Alzheimer's disease, inhibits acetylcholinesterase in primary cultures derived from forebrain, hippocampus, cortex and cerebellum of embryonic rat brain. Glutamate induces cell death in cultures from all these brain regions. Maximum cell toxicity was observed in cerebellar cultures. Pretreatment of cell cultures with Huperzine A reduced cell toxicity, as evidenced by cytotoxicity assay and general morphology. Huperzine A pretreatment also reduced glutamate-induced calcium mobilization, but did not affect elevations in intraneuronal free Ca2+ ([Ca]i) caused by KCl or (-)Bay K 8644. The data suggest that Huperzine A could be a potent neuroprotective agent not only where cholinergic neurons are impaired, but also under conditions in which glutamatergic functions are compromised.


Asunto(s)
Ácido Glutámico/toxicidad , Neuronas/efectos de los fármacos , Fármacos Neuroprotectores/farmacología , Neurotoxinas , Prosencéfalo/efectos de los fármacos , Sesquiterpenos/farmacología , Ácido 3-piridinacarboxílico, 1,4-dihidro-2,6-dimetil-5-nitro-4-(2-(trifluorometil)fenil)-, Éster Metílico/farmacología , Acetilcolinesterasa/metabolismo , Alcaloides , Animales , Calcio/metabolismo , Muerte Celular/efectos de los fármacos , Supervivencia Celular/efectos de los fármacos , Células Cultivadas , Embrión de Mamíferos , Neuronas/citología , Neuronas/patología , Cloruro de Potasio/farmacología , Prosencéfalo/citología , Prosencéfalo/patología , Ratas , Ratas Sprague-Dawley
7.
Gastroenterol Clin Biol ; 15(3): 187-93, 1991.
Artículo en Francés | MEDLINE | ID: mdl-1710587

RESUMEN

Telemetric shuttles for the in vivo investigation of the gastrointestinal tract have been available for sometime. We describe herein the use of a new shuttle model whose original features include: a) continuous, real time transmission of its location in the small bowel and accurate measurement of the gut length, b) controlled release of 1 ml of a given substance at any chosen site, allowing detailed investigation of intestinal absorption at different levels of the small bowel under physiological conditions. Small bowel length was measured in dogs using the shuttle and was later compared to the actual small gut length measured in the same animals at laparotomy. The telemetric measurements appeared to closely match the direct operative measurements. Insulin absorption from the canine small bowel was then investigated releasing different dosages of insulin together with the pancreatic enzyme inhibitors Soybean and Aprotinine and a surfactant (5-methoxysalicylate). By adjusting the dose of insulin released, the type of adjuvant substance delivered with it and the site of release in the small bowel, we have been able to precisely define the conditions of insulin absorption. Insulin as such is exclusively absorbed in the ileum when released in doses of 500 IU or higher and mixed with aprotinine. For absorption to take place the solution delivered by the shuttle needs to have the correct pH and natremic concentration.


Asunto(s)
Insulina/fisiología , Absorción Intestinal/fisiología , Intestino Delgado/fisiología , Telemetría/métodos , Animales , Aprotinina/farmacología , Glucemia/análisis , Perros , Relación Dosis-Respuesta a Droga , Éteres de Hidroxibenzoatos , Insulina/sangre , Absorción Intestinal/efectos de los fármacos , Salicilatos/farmacología , Aceite de Soja/farmacología , Telemetría/instrumentación
8.
Int J Epidemiol ; 18(1): 139-45, 1989 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-2722357

RESUMEN

A total of 542 women aged 15 to 44 years died during the 10-year period 1976 to 1985 in the control area of Matlab, an area with a population of 90,000, representative of many other rural areas of southern Bangladesh. The corresponding age-specific mortality rate was 290 per 100,000 women 15-44 years. These deaths have been analysed retrospectively, using information collected through the Demographic Surveillance System set up by the International Centre for Diarrhoeal Disease Research, Bangladesh (ICDDR,B) and verbal autopsies conducted in the homes. Of these deaths, 175 (32%) were due to infectious diseases, 163 (30%) to direct obstetric complications, 67 (12%) to injuries, and the remaining 26% to other causes. Cause-specific and proportionate mortality rates showed a positive association with age for deaths due to infectious diseases, non-infectious diseases and unspecified causes, and an inverse association with age for deaths due to injuries. These rates showed a peak in the intermediate age group 25 to 34 years for deaths due to direct obstetric causes. No consistent trends were visible when annual rates were studied over time. Prior to death, 42% of the women were attended by traditional practitioners, and 33% were not attended at all. Demographic impact is discussed, emphasizing the contribution of obstetric causes to overall mortality. Priorities for health policy implications are proposed, focusing upon a strong maternity care programme, and improved availability of female health personnel, in the context of the socio-cultural constraints imposed on women in poor rural areas.


Asunto(s)
Causas de Muerte , Mortalidad , Adolescente , Adulto , Factores de Edad , Bangladesh , Femenino , Humanos , Infecciones/mortalidad , Medicina Tradicional , Mortalidad/tendencias , Vigilancia de la Población , Embarazo , Complicaciones del Embarazo/mortalidad , Salud Rural , Estaciones del Año , Servicios de Salud para Mujeres/provisión & distribución , Heridas y Lesiones/mortalidad
9.
Stud Fam Plann ; 19(6 Pt 1): 313-34, 1988.
Artículo en Inglés | MEDLINE | ID: mdl-3068840

RESUMEN

A decade has elapsed since a project was launched in Matlab, Bangladesh to test the hypothesis that contraceptive services can induce and sustain fertility decline in a rural traditional population. The demographic impact of this project has been pronounced, lending support to the view that supply-side policies can succeed even where institutional supports for demand are weak. This paper reviews the relationship between the Bangladesh climate of demand and the Matlab system of supply with the aim of explaining how such effects arise. A sociologically appropriate system of supply can induce fertility change in a society where such change would not spontaneously arise. The study of programs and the "sociology of the supply side" thus deserve the same degree of rigor accorded to research on the "sociology of demand."


Asunto(s)
Anticoncepción , Fertilidad , Accesibilidad a los Servicios de Salud , Necesidades y Demandas de Servicios de Salud , Investigación sobre Servicios de Salud , Bangladesh , Humanos , Aceptación de la Atención de Salud , Política Pública , Valores Sociales , Factores Socioeconómicos
10.
Brain Res ; 424(1): 169-76, 1987 Oct 20.
Artículo en Inglés | MEDLINE | ID: mdl-3121133

RESUMEN

Ca2+ transport was studied in synaptosomes prepared from normal cats and cats with GM1 gangliosidosis. The influx of Ca2+ was found to be a biphasic process in synaptosomes from both GM1 mutant and normal cats. Both the fast and slow phases of voltage-dependent Ca2+ uptake were significantly reduced in cats with the lysosomal storage disease, however the inhibitory mechanisms differed. The fast phase of Ca2+ uptake was inhibited uncompetitively, whereas the slow phase was inhibited competitively. In addition, Na+-dependent Ca2+ efflux was reduced significantly in cats with GM1 gangliosidosis. Since it is well established that maintenance of Ca2+ homeostasis is essential for normal neuronal function, a ganglioside-induced disruption of Ca2+ transport across synaptic membranes may be responsible, in part, for the neuronal dysfunction characteristic of GM1 gangliosidosis.


Asunto(s)
Calcio/metabolismo , Gangliosidosis/metabolismo , Corteza Motora/metabolismo , Mutación , Sinaptosomas/metabolismo , Animales , Radioisótopos de Calcio , Gatos , Colina O-Acetiltransferasa/metabolismo , Gangliósido G(M1) , Gangliosidosis/genética , Cinética
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