Narcolepsia y olor: resultados preliminares / Narcolepsy and odour: preliminary report

Objetivo. El propósito de este estudio es probar la hipótesis de un olor corporal característico en narcolépticos como indicador de diagnóstico. Métodos. Se testan muestras de sudor de 12 narcolépticos y 22 controles sanos de forma independiente por 2 perros entrenados. Su detección, positiva o negativa, se compara con el diagnostico gold standard de narcolepsia. Ni adiestrador ni perros conocían el tipo de muestra seleccionada o su emplazamiento en el dispositivo de búsqueda. Doce pacientes con narcolepsia, de ambos sexos y distintas edades, reclutados entre abril de 2011 y junio de 2012 y diagnosticados según criterios estándar mediante su historia clínica y la polisomnografía nocturna seguida de test de latencia múltiple del sueño, conforman el grupo de pacientes. El grupo control está formado por 22 voluntarios sanos, de ambos sexos y distintas edades, sin trastorno del sueño. Las muestras de sudor, tanto de pacientes como de controles, se recogieron siguiendo el mismo protocolo para evitar contaminación y fueron testadas de forma independiente por 2 perros entrenados. Resultados. Once narcolépticos son detectados positivamente por los perros frente a solo 3 controles sanos. Conclusión. Parece que los pacientes con narcolepsia tienen un olor corporal típico que los perros entrenados pueden detectar. El desarrollo de un test de olfato para el diagnóstico de narcolepsia abre nuevas áreas de investigación (AU)

Objectives: This study has been carried out to test the clinical hypothesis of personal smell as a hint to the diagnosis of narcoleptic patients. Methods: Sweat samples from narcoleptic and healthy controls were tested independently by two trained dogs and their positive or negative detection compared to the gold standard diagnosis for narcolepsy. Neither trainer nor dog knew the source of the sample selected or its placement in the search device. Twelve narcoleptic patient, both sexes and various ages, recruited from April 2011 to June 2012 and diagnosed according to standard criteria, through their clinical records and nocturnal polysomnography plus multiple sleep latency test, made up the patient group. The control group was made up of 22 healthy volunteer without sleep disorders, both sexes and various ages. Sweat samples from both patients and controls were collected following the same protocol to avoid contamination, and tested independently for two trained dogs. Results: Eleven narcoleptic were detected positive by the dogs while only three controls. Conclusion: It seems that narcoleptic patients have a distinct typical odour that trained dogs can detect. The development of olfactory test could be a useful method in the screening of narcolepsy while opens a new research area (AU)

Narcolepsy and odor: preliminary report / Narcolepsia y olor: resultados preliminares

Objetivo: El propósito de este estudio es probar la hipótesis de un olor corporal característico en narcolepticos como indicador de diagnóstico. Métodos: Se testan muestras de sudor de 12 narcolepticos y 22 controles sanos de forma independiente por dos perros entrenados y su detección, positiva o negativa, se compara con el diagnostico ‘‘gold standard’’ de narcolepsia. Ni adiestrador ni perros conocían el tipo de muestra seleccionada o su emplazamiento en el dispositivo de búsqueda. 12 pacientes con narcolepsia, de ambos sexos y distintas edades, reclutados entre abril de 2011 y junio de 2012, y diagnosticados de acuerdo a criterios estándar, a través de su historia clínica y polisomnografía nocturna seguida de test de latencia múltiple del sue˜no, conforman el grupo de pacientes. El grupo control está formado por 22 voluntarios sanos, de ambos sexos y distintas edades, sin trastorno del sue˜no. Las muestras de sudor, tanto de pacientes como de controles, se recogieron siguiendo el mismo protocolo para evitar contaminación y fueron testadas de forma independiente por dos perros entrenados. Resultados: 11 narcolepticos son detectados positivamente por los perros frente a solo 3 controles sanos. Conclusión: Parece que los pacientes con narcolepsia tienen un olor corporal típico que perros entrenados pueden detector. El desarrollo de un test de olfato para el diagnostico de narcolepsia abre nuevas áreas de investigación (AU)

Objectives. This study has been carried out to test the clinical hypothesis of personal smell as a hint to the diagnosis of narcoleptic patients. Methods. Sweat samples from narcoleptic and healthy controls were tested independently by two trained dogs and their positive or negative detection compared to the gold standard diagnosis for narcolepsy. Neither trainer nor dog knew the source of the sample selected or its placement in the search device. Twelve narcoleptic patients, both sexes and various ages, recruited from April 2011 to June 2012 and diagnosed according to standard criteria, through their clinical records and nocturnal polysomnography plus multiple sleep latency test, made up the patient group. The control group was made up of 22 healthy volunteer without sleep disorders, both sexes and various ages. Sweat samples from both patients and controls were collected following the same protocol to avoid contamination, and tested independently by two trained dogs. Results. Eleven narcoleptic were detected positive by the dogs while only three controls. Conclusion. It seems that narcoleptic patients have a distinct typical odor that trained dogs can detect. The development of olfactory test could be a useful method in the screening of narcolepsy while opens a new research area (AU)

Narcolepsy and odor: preliminary report.

OBJECTIVES: This study has been carried out to test the clinical hypothesis of personal smell as a hint to the diagnosis of narcoleptic patients. METHODS: Sweat samples from narcoleptic and healthy controls were tested independently by two trained dogs and their positive or negative detection compared to the gold standard diagnosis for narcolepsy. Neither trainer nor dog knew the source of the sample selected or its placement in the search device. Twelve narcoleptic patients, both sexes and various ages, recruited from April 2011 to June 2012 and diagnosed according to standard criteria, through their clinical records and nocturnal polysomnography plus multiple sleep latency test, made up the patient group. The control group was made up of 22 healthy volunteer without sleep disorders, both sexes and various ages. Sweat samples from both patients and controls were collected following the same protocol to avoid contamination, and tested independently by two trained dogs. RESULTS: Eleven narcoleptic were detected positive by the dogs while only three controls. CONCLUSION: It seems that narcoleptic patients have a distinct typical odor that trained dogs can detect. The development of olfactory test could be a useful method in the screening of narcolepsy while opens a new research area.

Apnea obstructiva del sueño. Hipoxia / Obstructive sleep apnea. Hypoxemia

Presentamos el caso de un niño de 17 meses, cuyos padres consultan por un trastorno del crecimiento grave y un déficit del desarrollo psicomotor, ambos sin un claro origen, habiéndose descartado causas genéticas o intrauterinas. Se realiza un primer estudio polisomnográfico, en el que se diagnostica el caso como un síndrome de apnea-hipopnea durante el sueño grave, secundario a una hipertrofia amigdalar. Se realizaron una amigdalectomía y una adenoidectomía que permitieron corregir el cuadro. La hipoxemia sostenida desde los primeros meses de vida provoca consecuencias que interfiere en el desarrollo físico, neurocognitivo y conductual de los niños, el aprendizaje, etc. En todo retraso grave del crecimiento y del desarrollo psicomotor de un niño hay que valorar en el examen físico la hipertrofia amigdaloadenoidea. Si existe hipertrofia, hay que realizar un estudio polisomnográfico, ya que es la causa más frecuente de trastorno del sueño en los niños (AU)

We present the case of a 17-months-old boy presented with severe alteration in growth and a deficit in psychomotor development, both without any clear etiology, or showing genetic nor intrauterus causes. The first polysomnography study reported a severe obstructive sleep apnea due to hypertrophic tonsil. A tonsillectomy and an adenoidectomy were performed correct the illness. The hypoxemia beginning in the first months of life, results in many negative consequences in physical development, neurocognitive development, behavior, learning capacity, etc., affecting the general development of the child. In severe alterations in growth and psychomotor development in a child, we have to consider hypertrophic adenoid and lingual tonsil. For patients with hypertrophic adenoid and lingual tonsil the physician should order a polysomnography study because it is the main cause of sleep disorders in children (AU)

[Hodgkin's disease in patients with infection caused by the human immunodeficiency virus. Study of 9 cases]. / Enfermedad de Hodgkin en pacientes con infección por el virus de la inmunodeficiencia humana. Estudio de 9 casos.

Nine young males with Hodgkin's disease (HD) and antibodies against the human immunodeficiency virus were evaluated. They had been diagnosed since 1984 in three Madrid hospitals: Hospital 12 de Octubre, Hospital Ramón y Cajal, and Clínica Puerta de Hierro. Eight patients were intravenous heroin abusers and one was homosexual. In 8 patients (88.8%) HD presented in advanced stages (III and IV), and in 5 cases (55.5%) the histology corresponded to mixed cell type. Four patients (44.4%) developed opportunistic infections. In the immunological study a reduction of CD4+ lymphocytes below 0.4 X 10(3)/l was found in 5 of 7 patients (71.4%), and an inversion of CD4+/CD8+ ratio in 6 of 7 patients (85.7%). The response to therapy was poor. Five patients died (55.5%). In 4, the direct cause of death was an opportunistic infection. The reasons why we think that HD in patients with HIV infections should be considered as indicating acquired immunodeficiency syndrome are discussed.

[Chronic adrenal failure secondary to an isolated deficiency of ACTH. Presentation of 2 new cases]. / Fracaso adrenal crónico secundario a deficiencia aislada de ACTH. Presentación de dos nuevos casos.

Chronic adrenal failure due to hypothalamic-hypophyseal disorders is rarely encountered. This can be due to hormonal deficiencies generally related to the presence of a brain tumor or an infiltrating process and sometimes to an isolated deficiency of ACTH. We report on two patients with adrenal failure with low basal cortisol levels and a poor response to short cortisol stimulation test with ACTH. Long cortisol stimulation test with ACTH was normal and ACTH was not stimulated with corticotropin releasing factor. However, other specific dynamic pituitary hormonal tests were normal. The uncommon clinical presentation of the disease, such as severe hypoglycemic crisis and fever of unknown origin (FUO), is underscored.