BackgroundMinocycline is an old tetracycline antibiotic that has shown antiinflammatory and antiapoptotic properties in different neurological disease mouse models. Previous single arm study in humans demonstrated benefits in individuals with Angelman Syndrome (AS); however, its efficacy in patients with Angelman Syndrome has not been assessed in a controlled trial.This was a randomized, double-blind, placebo-controlled, crossover trial in individuals with AS, aged 6 years to 30 years (n = 32, mean age 12 [SD 6·29] years). Participants were randomized to minocycline or placebo for 8 weeks and then switched to the other treatment (a subset of 22 patients) or to receive minocycline for up to 16 weeks (10 patients). After week 16, all patients entered a wash-out 8-week follow-up period.ResultsThirty-six subjects were screened and 34 were randomized. Thirty two subjects (94·1%) completed at least the first period and all of them completed the full trial. Intention-to-treat analysis demonstrated the lack of significantly greater improvements in the primary outcome, mean changes in age equivalent of the development index of the Merrill-Palmer Revised Scale after minocycline compared with placebo (1·90 ± 3·16 and 2·00 ± 3·28, respectively, p = 0·937). Longer treatment duration up to 16 weeks did not result in better treatment outcomes (1·86 ± 3·35 for 8 weeks treatment vs 1·20 ± 5·53 for 16 weeks treatment, p = 0·667). Side effects were not significantly different during minocycline and placebo treatments. No serious adverse events occurred on minocycline.ConclusionsMinocycline treatment for up to 16 weeks in children and young adults with AS resulted in lack of significant improvements in development indexes compared to placebo treatment. Treatment with minocycline appears safe and well tolerated; even if it cannot be completely ruled out that longer trials might be required for a potential minocycline effect to be expressed, available results and lack of knowledge on the actual mechanism of action do not support this hypothesis.Trial registrationEuropean Clinical Trial database (EudraCT 2013-002154-67), registered 16th September 2013; US Clinical trials database (NCT02056665), registered 6th February 2014.Electronic supplementary materialThe online version of this article (10.1186/s13023-018-0891-6) contains supplementary material, which is available to authorized users.

Background: Brain abscess is a life-threatening entity which requires prompt and long-term antibiotic therapy, generally associated with surgical drainage, and eradicating the primary source of infection. Parvimonas micra (Pm) has only been reported once before as the lone infecting organism of an orally originated, solitary brain abscess. Diagnosing brain abscesses caused by this Gram-positive anaerobic coccus, constituent of the oral cavity flora, is challenging, and an optimal treatment regimen has not been well established. We report the diagnosis and successful treatment of a Pm caused odontogenic brain abscess. Case Description: A 62-year-old immunocompetent male with a right-parietal brain abscess presented with headache and seizures. He was started on empirical antibiotic therapy and subsequently underwent surgical drainage. The only source of infection found was severe periodontitis with infected mandibular cysts. Thus, tooth extraction and cyst curettage were performed 1 week after brain surgery. Cultures of brain abscess fluid were negative, but amplification of bacterial 16S ribosomal RNA (rRNA) with polymerase chain reaction demonstrated Pm. After 3 weeks of intravenous ceftriaxone and metronidazole, the patient was switched to oral metronidazole and moxifloxacin for 6 weeks. Conclusions: This case highlights the potential risk of untreated dental infections causing brain abscesses. Pm should be considered as a possible pathogen of odontogenic brain abscesses despite its presence usually not being detected by standard bacterial cultures. Therefore, 16S rRNA gene sequencing analysis is strongly recommended for bacterial identification before defining brain abscesses as cryptogenic.

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Introducción. El síndrome de Angelman (SA) está ampliamente descrito en la infancia, pero existen escasos estudios en edad adulta y la mayoría recoge un pequeño número de pacientes o condiciones específicas, como epilepsia o sueño. Objetivo. El objetivo de este estudio es describir el SA en la edad adulta en nuestro centro, sus necesidades especiales, y el soporte médico y social para mejorar la atención y ofrecer una mejor transición del servicio de pediatría a las unidades de adultos. Pacientes y métodos. Se recogen pacientes con SA genéticamente confirmado, y describimos datos demográficos, médicos y sociales mediante la revisión de historias clínicas, entrevistas telefónicas con el cuidador principal y tres escalas estandarizadas de sueño, dependencia y calidad de vida. Resultados. Se incluye a 30 pacientes con una mediana de edad de 22,7 años: 22 son deleciones, 27 presentan antecedente de epilepsia y 13 están en tratamiento con, al menos, dos fármacos antiepilépticos. Las comorbilidades más frecuentes después de la epilepsia fueron los síntomas psiquiátricos, la escoliosis, el sobrepeso, el estreñimiento y problemas oftalmológicos. El 40% precisó ingresos hospitalarios en la edad adulta, cinco están institucionalizados y 24 reciben terapias no médicas. El médico a cargo es el neurólogo en la mayoría, seguido del neuropediatra. Conclusiones. Es necesario realizar estudios de historia natural más allá de la infancia. Ésta es la primera revisión española de adultos con SA que recoge un amplio espectro de condiciones sociales y médicas de estos pacientes.

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