RESUMEN
INTRODUCTION: Usher's syndrome is a heterogeneous autosomal recessive disorder characterised by dual sensory impairment: profound congenital hearing impairment and progressive visual loss due to retinitis pigmentosa, sometimes associated with vestibular dysfunction. Some patients develop a psychotic illness, the etiology of which is still debated. Diagnosis may be difficult, and there are only a few reports in the psychiatric literature. CASE REPORT: The present case reports a 57-year-old man, double diagnosed with sensory impairment and psychosis. The severity of his psychosis required several hospitalisations in a psychiatric in-unit, even under third party decision or compulsory hospitalisation, for acute states with disruptive behaviour, aggressiveness against his mother, persecutory delusion and auditory hallucinations, self-talking, major anxiety, and depressive affects, without dissociation. Deafness had been diagnosed when he was six years old; he was able to attend school and learn to read and speak, using hearing aids, and was able to hold a job for three months. Severe psychotic symptoms appeared when he was 18 years old and contributed in confirming the diagnosis. Progressive loss of vision until blindness began later, between the age of 40 to 50. No specific abnormal results were revealed during the neuroradiological check-up. Treatment consisted in antipsychotics, notably depot, first in a mental health care in-unit and subsequently in an out-patient unit: although he denied psychotic symptoms, he became compliant with medication and could go on with treatment, associated with multidisciplinary interventions at home, in order to improve his quality of life. DISCUSSION: Usher's syndrome is the most frequent cause of combined deafness and blindness in adults (three and five individuals per 100,000), but difficulties in communication need to increase clinical awareness of this disorder, especially for psychiatrists. Three subtypes are recognized by the International Usher Syndrome Consortium: Type 1 is characterised by profound congenital deafness, retinal degeneration beginning in childhood, and progressive vestibular dysfunction; Type 2 is characterised by moderate to severe hearing impairment, later onset of retinal degeneration, and normal vestibular function; Type 3 is characterised by progressive hearing loss and variable age of onset of retinal degeneration. Although nearly 23% may have psychotic symptoms, the aetiology remains unclear: sensory deprivation associated with environmental stress, organic changes such as cerebral abnormalities, genetic link (two genetic loci for both Usher's syndrome and psychotic illness are very close). Treatment of psychiatric symptoms is based on antipsychotics, well tolerated by the patients, who improve change of behaviour and communication abilities. Genetic counselling may be useful for parents. CONCLUSION: Access to mental health services is particularly difficult for deaf and deaf-blind people, and difficulties in communication are a challenge for patients and for caregivers too. Antipsychotic medications are helpful for associated psychotic symptoms. Potential link between Usher syndrome and psychosis is still unclear and needs further studies.
Asunto(s)
Trastornos Psicóticos/diagnóstico , Síndromes de Usher/diagnóstico , Antipsicóticos/uso terapéutico , Aberraciones Cromosómicas , Preparaciones de Acción Retardada , Deluciones/diagnóstico , Deluciones/tratamiento farmacológico , Deluciones/genética , Deluciones/psicología , Genes Recesivos , Alucinaciones/diagnóstico , Alucinaciones/tratamiento farmacológico , Alucinaciones/genética , Alucinaciones/psicología , Humanos , Masculino , Persona de Mediana Edad , Trastornos Psicóticos/tratamiento farmacológico , Trastornos Psicóticos/genética , Trastornos Psicóticos/psicología , Síndromes de Usher/genética , Síndromes de Usher/psicologíaRESUMEN
In male Sprague-Dawley rats, motor and sensory conduction velocities (MNCV and SNCV) of the tail nerve decreased significantly as a result of oral administration of 400 and 200 mg/kg of 2,5 hexanedione (2,5-HD) once daily, 5 days a week for up to 7 and 15 weeks, respectively; and of whole-body exposure to 300 ppm of vinyltoluene for 6 h daily, 5 days a week for up to 21 weeks. Exposure to 100 ppm of vinyltoluene did not cause any significant impairment of tail nerve function throughout the 21-week exposure period. Significant changes in MNCV and SNCV were consistently observed from weeks 4 and 2, respectively, in 2,5-HD-treated rats. Changes resulting from exposure to 300 ppm of vinyltoluene were reported intermittently from week 15. Significant linear relationships were established between the length of treatment with 2,5-HD, length of exposure to 300 ppm of vinyltoluene, and the extent of impairment of tail nerve function. Structural damage to the sciatic nerves was only seen in 2,5-HD-treated rats. It is concluded that vinyltoluene can be regarded as an airborne chemical which leads to the development of a borderline experimental neuropathy at a level of 300 ppm.
Asunto(s)
Hexanonas/toxicidad , Cetonas/toxicidad , Conducción Nerviosa/efectos de los fármacos , Estirenos/toxicidad , Potenciales de Acción , Administración Oral , Animales , Cámaras de Exposición Atmosférica , Peso Corporal/efectos de los fármacos , Estimulación Eléctrica , Masculino , Ratas , Ratas Endogámicas , Nervio Ciático/efectos de los fármacosRESUMEN
Some cases of hepatitis were non A, non B, non C, non D. Hepatitis E virus (Calicivirus) transmission is fecal-oral similar to that of the hepatitis A virus. Viral hepatitis E is endemic and frequently epidemic in many developing countries, but exceptionally observed in France. A high mortality rate was observed in pregnant women. Recently, ELISA assays for IgM anti-HCV are available. Many hepatitis cases (acute and chronic) are not caused by known viruses (non A-non E). Four Flavivirus like have recently been cloned from infectious tamarin serum, derived from human viral hepatitis. Three viruses GB Virus A (GBV-A), GB Virus B (GBV-B) and GB Virus C (GBV-C) were identified. The GB viruses and HG Virus are not genotypes of hepatitis C Virus (HCV) and perhaps that GBV-A/GBV-C and HGV are closely related. GBV-A could be an indigenous tamarin virus. The new hepatitis (non A-non E) viruses were associated with blood transmission and with chronic diseases. The development of specific diagnostic reagents using polymerase chain reaction (PCR) and ELISA assays are essential to answer many questions on the epidemiology (and the incidence of post-transfusion hepatitis), and the pathogenesis of GBV and HGV viruses.
Asunto(s)
Hepatitis E/transmisión , Hepatitis Viral Humana/transmisión , Ensayo de Inmunoadsorción Enzimática , Femenino , Hepatitis E/diagnóstico , Hepatitis E/epidemiología , Hepatitis Viral Humana/diagnóstico , Hepatitis Viral Humana/epidemiología , Humanos , Reacción en Cadena de la Polimerasa , Embarazo , Complicaciones Infecciosas del Embarazo/epidemiología , PrevalenciaRESUMEN
An epidemiological survey carried out on several groups at University Hospital of Lome showed that the prevalence of anti-HCV antibodies is 3.3 % among blood donors, 1.3 % in STD positive subjects and 6.1 % in hospitalized patients. The disparity of the HCV seropositivity rate was not statistically significant among HIV-infected and non-infected subjects (6.9 % vs 3.3 % respectively). The HCV RNA was most frequently recovered from patients, whose serological pattern was confirmed but also from 30 % of subjects, for whom the HCV serology was proved. This shows the limits of serological tests in Africa.
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Hepacivirus/genética , Hepacivirus/inmunología , Anticuerpos contra la Hepatitis C/sangre , Hepatitis C/virología , ARN Viral/sangre , Adolescente , Adulto , Donantes de Sangre , Niño , Preescolar , Hepatitis C/epidemiología , Humanos , Lactante , Persona de Mediana Edad , TogoAsunto(s)
Hepatitis C/epidemiología , Adulto , África/epidemiología , Demografía , Femenino , Genotipo , Hepatitis C/genética , Hepatitis C/transmisión , Humanos , Masculino , Embarazo , Prevalencia , Factores de RiesgoRESUMEN
2-Thiothiazolidine-4-carboxylic acid (TTCA) is the accepted urinary indicator of occupational exposure to carbon disulfide. An extractionless automated column-switching procedure for the determination of this compound in urine was developed. The biological fluid is directly injected into the chromatographic system after dilution. A clean-up procedure is performed in an anion-exchange pre-column, with aqueous formic acid as eluent, followed by a transfer to a cyan-amino or amino analytical column in order to carry out analysis of TTCA under isocratic elution conditions, with a mixture of acetonitrile, water and formic acid as eluent, combined with ultraviolet detection. The detection limit of the method in urine is estimated to be 0.1 mg/l.
Asunto(s)
Autoanálisis , Cromatografía Líquida de Alta Presión/métodos , Tiazoles/orina , Acetonitrilos , Aniones , Disulfuro de Carbono/envenenamiento , Cromatografía por Intercambio Iónico , Formiatos , Humanos , Exposición Profesional , TiazolidinasRESUMEN
Two analytical methods without an extraction step were developed using capillary electrophoresis and supercritical fluid chromatography in order to determine phenylglyoxylic (PGA) and mandelic (MA) acids in urine, with minimum treatment and manipulation of biological samples. The urine was diluted ten-fold in acetonitrile and directly injected into the analytical systems after centrifugation. Analysis was performed by capillary electrophoresis on alkyl bonded phase capillary columns with sodium formiate (4 x 10(-2) M)-isopropanol (9:1, v/v) as a buffer, and by supercritical fluid chromatography on a Diol bonded phase silica column with ethanol-water-methanesulphonic acid (97.5:2.4:0.1, v/v) as coeluent of CO2. Detection of PGA and MA was performed by ultraviolet detection at 255 and 210 nm, respectively. The methods are in agreement, and are easily able to detect 5 mg/g creatinine for PGA, and 15 mg/g creatinine for MA, which are one twentieth of the lowest biological exposure index values.
Asunto(s)
Glioxilatos/orina , Ácidos Mandélicos/orina , Estirenos/metabolismo , Contaminantes Ocupacionales del Aire/metabolismo , Contaminantes Ocupacionales del Aire/orina , Antiinfecciosos Urinarios/orina , Cromatografía Liquida , Creatina/análisis , Electroforesis Capilar , Humanos , Concentración de Iones de Hidrógeno , Exposición Profesional/análisis , Reproducibilidad de los Resultados , Sensibilidad y Especificidad , TemperaturaRESUMEN
2-Thiothiazolidine-4-carboxylic acid (TTCA) is the accepted urinary indicator of occupational exposure to carbon disulfide. This compound was detected in blank urine of individuals unexposed to carbon disulfide during an experimental validation of a new method of determination. Diet was suspected to be the source of TTCA, and particularly the consumption of brassica vegetables. This assumption was confirmed by collection and analysis of urine samples after ingestion of crude cabbage. TTCA was detected at concentrations higher than 2 mg/l in urine, and 3 mg/kg in crude cabbage. The identity of TTCA was confirmed after extraction and separation by capillary electrophoresis, supercritical fluid chromatography, and mass spectrometry. The results show that the diet should be considered as a nonnegligible source of the overestimation of carbon disulfide exposure.
Asunto(s)
Brassica/metabolismo , Disulfuro de Carbono/metabolismo , Dieta , Exposición Profesional/análisis , Tiazoles/orina , Biomarcadores/orina , Brassica/química , Cromatografía Líquida de Alta Presión , Monitoreo del Ambiente , Humanos , Espectrometría de Masas , Tiazoles/análisis , Tiazolidinas , UrinálisisRESUMEN
An on-line sample treatment method to determine 1-hydroxypyrene (1-OHP), a metabolite of polycyclic aromatic hydrocarbons (PAHs), in human urine has been developed. The hydrolysed biological fluid was directly injected into the chromatographic system after only centrifugation. A miniature precolumn loop packed with a preparative phase and coupled on-line to a liquid chromatographic (LC) system was used for analyte enrichment. The analytes were non-selectively desorbed with the LC eluent and cleaned by means of a column-switching procedure comprising two purification columns and an analytical column. Pre-treatment and analysis were performed within 2 and 20 min, respectively. Average 1-OHP recovery reached 99% in the 1-25 microg/l range of urine, and the quantitation limit was 20 ng/l for 100 microl of injected sample. A comparison with a more time-consuming off-line method was performed by analysing 120 urine samples of PAH-exposed and expected unexposed workers; the statistical treatment indicated that both methods are in agreement.
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Cromatografía Líquida de Alta Presión/métodos , Pirenos/análisis , Automatización , Calibración , Glucurónidos/metabolismo , Humanos , Hidrólisis , Mutágenos/análisis , Mutágenos/metabolismo , Pirenos/metabolismo , Espectrometría de Fluorescencia , OrinaRESUMEN
3-Hydroxybenzo[a]pyrene (3-OHB[a]P), one of the metabolites of benzo[a]pyrene (B[a]P), has been determined in human urine using an automated column-switching procedure. The hydrolysed biological sample is centrifuged just prior to being injected into a reusable precolumn loop, which is packed with a preparative phase and coupled on-line to a liquid chromatographic (LC) system. A rapid pre-treatment of the hydrolysed sample, consisting of a concentration and a crude clean-up, is performed on the precolumn. The analytes are then non-selectively desorbed with the LC eluent and the sample is cleaned again in three successive purification columns using the direct transfer or "heart-cut" technique. The pre-treatment does not exceed 3 min. and the entire analytical purification and separation procedure takes less than 30 min. Average 3-OHB[a]P recovery reaches 95% in the 1-50 ng/l range of urine, and the detection limit is 0.1 ng/l urine for a 3 ml injection of hydrolysed urine. The developed method was compared with a more time-consuming off-line method to analyse urines of B[a]P gavaged rats; the statistical treatment indicates that both methods are in agreement. The method was applied to purify and concentrate the urine samples of workers exposed and apparently unexposed to polycyclic aromatic hydrocarbons (PAHs).
Asunto(s)
Benzopirenos/análisis , Cromatografía Líquida de Alta Presión/métodos , Animales , Automatización , Cromatografía Líquida de Alta Presión/instrumentación , Humanos , Masculino , Ratas , Ratas Sprague-Dawley , Reproducibilidad de los Resultados , OrinaRESUMEN
An extractionless method for determining aflatoxin M1 (AFM1), a major metabolite of aflatoxin B1 (AFB1), in human urine was developed. The biological fluid is injected directly into the chromatographic system after simple dilution and centrifugation. A pre-column, packed with a cation-exchange phase and coupled on-line to a column-switching liquid chromatography (LC) system, is used for sample pre-treatment and concentration. The analytes are non-selectively desorbed with the LC eluent and cleaned by means of a column-switching procedure. Pre-treatment and analysis were performed within 40 min. Average AFMI recovery reached 97% in the 10-100 ng/l range of urine. The detection limit of AFM1 in urine and milk was 2.5 ng/l for 1 ml of injected sample. A comparison with an immunoaffinity column clean-up and LC method was performed. The method was applied to determine AFM1 in the urine of AFB1 gavaged rats, and in the urine of both potentially exposed and supposedly unexposed workers. The method was also extended to milk.
Asunto(s)
Aflatoxina M1/orina , Aflatoxina M1/análisis , Animales , Cromatografía Líquida de Alta Presión , Humanos , Masculino , Leche/química , Ratas , Ratas Sprague-DawleyRESUMEN
During 13 months, 1101 women attending for antenatal care at Limoges University Hospital were prospectively studied to determine the prevalence of Cytomegalovirus (CMV) antibodies: 47.9% of these women were CMV seropositive. Ethnic group was strongly associated with CMV status: 42.6% of metropolitan and 94.5% of immigrant women were seropositive. Seropositivity was associated with increasing parity and older age. The risk of a susceptible woman to acquire CMV infection during pregnancy is 0.7%. Among the 4 seroconversions, 3 children were infected, with developmentally and neurologically normal status in one case, moderate ear damage in an other case and a disseminated infection in the third case requiring a provoked abortion.