RESUMEN
Drug-induced seizures and delirium are common among patients with critical illnesses, especially those in an intensive care unit. With an increase in the use of potent, broad-spectrum antibiotics, the etiology for encephalopathy remains under-recognized. Antibiotics-induced nonconvulsive seizures should also be considered in patients with unexplained mental status, therefore continuous electroencephalography monitoring is often needed for its detection. Prompt discontinuation, substitution, or dose adjustment of the causative antibiotics might help improve prognosis. Also, antibiotics should be used with caution especially in patients with known epilepsy, central nervous system disorders, critical illnesses, or renal dysfunction.
Asunto(s)
Humanos , Antibacterianos , Antiinfecciosos , Encefalopatías , Enfermedades del Sistema Nervioso Central , Enfermedad Crítica , Delirio , Electroencefalografía , Epilepsia , Unidades de Cuidados Intensivos , Síndromes de Neurotoxicidad , Pronóstico , ConvulsionesRESUMEN
Sleep-related painful erection (SRPE) is characterized by deep penile pain accompanied with erection occurring rapid eye movement (REM) movement period. Two (47-year-old and 40-year-old, respectively) male visited with the complaint of painful penile erection occurring during sleep. They had no problems with erection during daytime sexual activities except for mild premature ejaculation in one patient. Urologic inspections revealed no focal abnormalities. Polysomnography with simultaneous penile erection monitoring showed several episodes of awakening with painful erection which are time-locked to onset of REM sleep periods. According to the diagnostic criteria in international classification of sleep disorders, each patient was diagnosed to have chronic, severe SRPE. Despite of a low prevalence of SRPE, this condition should be considered in a patient who presents with nocturnal penile. A polysomnography accompanied with penile erection recording may help confirm diagnosis.
Asunto(s)
Adulto , Humanos , Masculino , Clasificación , Diagnóstico , Erección Peniana , Polisomnografía , Eyaculación Prematura , Prevalencia , Parasomnias del Sueño REM , Conducta Sexual , Trastornos del Sueño-Vigilia , Sueño REMRESUMEN
Ataxia-telangiectasia (A-T) is a rare autosomal recessive neurodegenerative disorder. It is characterized by early-onset, progressive cerebellar ataxia, oculomotor apraxia, choreoathetosis, conjunctival telangiectasias, immunodeficiency, and an increased risk of malignancy. Although A-T is known to be the most common cause of progressive cerebellar ataxia in childhood, there have been no confirmed cases in Korea. We report the clinical and genetic findings of Korean siblings who presented with limb and truncal ataxia, oculomotor apraxia, choreoathetosis, and telangiectasias of the eyes. Sequence analysis of the ataxia-telangiectasia mutated (ATM) gene revealed a known missense mutation (c.8546G>C; p.Arg2849Pro) and a novel intronic variant of intron 17 (c.2639-19_2639-7del13). Reverse-transcription PCR and sequencing analysis revealed that the c.2639-19_2639-7del13 variant causes a splicing aberration that potentiates skipping exon 18. Because A-T is quite rare in Korea, the diagnosis of A-T in Korean patients can be delayed. We recommend that a diagnosis of A-T should be suspected in Korean patients exhibiting the clinical features of A-T.
Asunto(s)
Niño , Femenino , Humanos , Masculino , Pueblo Asiatico/genética , Ataxia Telangiectasia/diagnóstico , Proteínas de la Ataxia Telangiectasia Mutada/genética , Heterocigoto , Intrones , Mutación Missense , Linaje , República de Corea , Reacción en Cadena de la Polimerasa de Transcriptasa Inversa , Análisis de Secuencia de ADN , HermanosRESUMEN
Ataxia-telangiectasia (A-T) is a rare autosomal recessive neurodegenerative disorder. It is characterized by early-onset, progressive cerebellar ataxia, oculomotor apraxia, choreoathetosis, conjunctival telangiectasias, immunodeficiency, and an increased risk of malignancy. Although A-T is known to be the most common cause of progressive cerebellar ataxia in childhood, there have been no confirmed cases in Korea. We report the clinical and genetic findings of Korean siblings who presented with limb and truncal ataxia, oculomotor apraxia, choreoathetosis, and telangiectasias of the eyes. Sequence analysis of the ataxia-telangiectasia mutated (ATM) gene revealed a known missense mutation (c.8546G>C; p.Arg2849Pro) and a novel intronic variant of intron 17 (c.2639-19_2639-7del13). Reverse-transcription PCR and sequencing analysis revealed that the c.2639-19_2639-7del13 variant causes a splicing aberration that potentiates skipping exon 18. Because A-T is quite rare in Korea, the diagnosis of A-T in Korean patients can be delayed. We recommend that a diagnosis of A-T should be suspected in Korean patients exhibiting the clinical features of A-T.
Asunto(s)
Niño , Femenino , Humanos , Masculino , Pueblo Asiatico/genética , Ataxia Telangiectasia/diagnóstico , Proteínas de la Ataxia Telangiectasia Mutada/genética , Heterocigoto , Intrones , Mutación Missense , Linaje , República de Corea , Reacción en Cadena de la Polimerasa de Transcriptasa Inversa , Análisis de Secuencia de ADN , HermanosRESUMEN
No abstract available.