A brief report: de novo copy number variants in children with attention deficit hyperactivity disorder.

Recent case-control genetic studies of attention deficit hyperactivity disorder (ADHD) have implicated common and rare genetic risk alleles, highlighting the polygenic and complex aetiology of this neurodevelopmental disorder. Studies of other neurodevelopmental disorders, such as autism spectrum disorder (ASD), Tourette disorder, developmental delay/intellectual disability and schizophrenia indicate that identification of specific risk alleles and additional insights into disorder biology can be gained by studying non-inherited de novo variation. In this study, we aimed to identify large de novo copy number variants (CNVs) in children with ADHD.

(Z,Z)-6,9-Heneicosadien-11-one: major sex pheromone component of painted apple moth, Teia anartoides.

(Z,Z)-6,9-Heneicosadien-11-one (Z6Z9-11-one-21Hy) was identified as the major sex pheromone component of the painted apple moth (PAM), Teia anartoides (Lepidoptera: Lymantriidae), on the basis of (1) comparative gas chromatographic-electroantennographic detection (GC-EAD) analyses, GC-mass spectrometry (MS), high-performance liquid chromatography (HPLC)-MS, and HPLC-UV/visible spectroscopy of pheromone gland extracts and authentic standards; (2) GC-EAD analyses of effluvia of calling females; and (3) wind tunnel and field trapping experiments with a synthetic standard. In field experiments in Australia, synthetic Z6Z9-11-one-21Hy as a single component attracted male moths. Wind tunnel experiments suggested that a 4-component blend consisting of Z6Z9-11-one-21Hy, (6Z,9R,10S)-cis-9,10-epoxy-heneicosene (Z6-9R10S-epo-21 Hy), (E,E)-7,9-heneicosadien-6, 11-dione (E7E9-6,11-dione-21Hy), and 6-hydroxy-(E,E)-7,9-heneicosadien-11-one (E7E9-6-ol-11-one-21Hy) (all present in pheromone gland extracts) might induce more males to orient toward, approach, and contact the source than did Z6Z9-11-one-21Hy as a single component.

Management of toxic epidermal necrolysis in a 15-year-old girl.

Toxic epidermal necrolysis, a life-threatening reaction to certain types of drugs, is characterised by epidermal sloughing of more than 30% of the total body surface area. Patient survival depends on prompt referral to a specialist burns unit.

Epilepsy--giving the diagnosis. A survey of British paediatric neurologists.

Adult-centred studies continue to show poor information provision and understanding in people with epilepsy. This study explores whether paediatric neurologists work within a consultation framework designed to meet information needs. A questionnaire on how to give the diagnosis was sent to 32 UK Paediatric Neurologists.

Lamotrigine therapy in infantile neuronal ceroid lipofuscinosis (INCL).

Since 1990, altogether 16 INCL patients received lamotrigine (LTG) because of intractable epilepsy. The response to LTG was favorable in 15/16 children. The severity of seizures decreased significantly in 15/16 patients, the frequency of seizures decreased in 14/16, and the effects were maintained.