Background: Currently there is no first-line treatment recommended for the negative symptoms of schizophrenia. Psychosocial and behavioural interventions are widely used to reduce the burden of negative symptoms. Meta-analytic studies have summarised the evidence for specific approaches but not compared evidence quality and benefit.
View Article and Find Full Text PDFBackground: Negative symptoms are typically observed in people with schizophrenia and indicate a loss or reduction of normal function (e.g. reduced motivation and affect display).
View Article and Find Full Text PDFEmerg Microbes Infect
December 2022
Studies on behavioral flexibility in response to habitat differences and degradation are crucial for developing conservation strategies for endangered species. species inhabit various habitats and display different patterns of strata use; however, the effect of habitat structure on strata use remains poorly studied. Here, we investigated strata use patterns of Indo-Chinese gray langurs ( ) in a primary evergreen forest in Mt.
View Article and Find Full Text PDFDev Med Child Neurol
January 2015
Aim: To establish whether deficits in social cognition are present in children with generalized or focal epilepsy in mainstream education, and whether any relation exists between social cognition, communication, and behaviour measures.
Method: In a cross-sectional study, children with an epilepsy-only diagnoses in mainstream education (n=20 with generalized epilepsy; eight males, 12 females; mean age 11y 6mo, SD 2y 6mo; and n=27 with focal epilepsy; 12 males, 15 females; mean age 11y 8mo, SD 2y 2mo) and comparison participants (n=57; 28 males, 29 females; mean age 11y 2mo, SD 2y 4mo) were administered the Strange Stories task and the Mind in the Eyes task, as well as an IQ assessment. Parents completed the Children's Communication Checklist-2 and the Child Behavior Checklist (CBCL).
Eur J Paediatr Neurol
January 2013
We present a case of a live born female infant who presented in early life with a movement disorder, lack of developmental progress and neutropenia. Extensive neuro-metabolic investigation was non-diagnostic. Chromosome analysis of cultured lymphocyte cells showed an abnormal chromosome 16 with additional material noted in the proximal long arm.
View Article and Find Full Text PDFCold immersion evokes the life-threatening cold shock response (CSR). We hypothesised that anxiety may increase the magnitude of (Study 1), and diminish habituation to (Study 2), the CSR. Study 1: eleven participants completed two 7-min immersions in cold water (15 °C).
View Article and Find Full Text PDFA series of saligenin beta(2) adrenoceptor agonist antedrugs having high clearance were prepared by reacting a protected saligenin oxazolidinone with protected hydroxyethoxyalkoxyalkyl bromides, followed by removal of the hydroxy-protecting group, alkylation, and final deprotection. The compounds were screened for beta(2), beta(1), and beta(3) agonist activity in CHO cells. The onset and duration of action in vitro of selected compounds were assessed on isolated superfused guinea pig trachea.
View Article and Find Full Text PDFThree siblings are described with a distinct phenotype characterized by dysmorphic facial features, profound hypotonia, seizures and precocious puberty. No cause has been identified in spite of numerous investigations, including array-comparative genomic hybridization at a resolution of 1 Mb. Autosomal recessive inheritance is a possibility given that three siblings of both sexes are affected.
View Article and Find Full Text PDFAicardi-Goutieres syndrome (AGS) is a genetic encephalopathy whose clinical features mimic those of acquired in utero viral infection. AGS exhibits locus heterogeneity, with mutations identified in genes encoding the 3'-->5' exonuclease TREX1 and the three subunits of the RNASEH2 endonuclease complex. To define the molecular spectrum of AGS, we performed mutation screening in patients, from 127 pedigrees, with a clinical diagnosis of the disease.
View Article and Find Full Text PDFHistone deacetylases (HDACs), histone acetyltransferases (HATs), and the molecular chaperone heat shock protein 90 (HSP90) are attractive anticancer drug targets. High-throughput screening plays a pivotal role in modern molecular mechanism-based drug discovery. Cell-based screens are particularly useful in that they identify compounds that are permeable and active against the selected target or pathway in a cellular context.
View Article and Find Full Text PDFAicardi-Goutières syndrome (AGS) is an autosomal recessive neurological disorder, the clinical and immunological features of which parallel those of congenital viral infection. Here we define the composition of the human ribonuclease H2 enzyme complex and show that AGS can result from mutations in the genes encoding any one of its three subunits. Our findings demonstrate a role for ribonuclease H in human neurological disease and suggest an unanticipated relationship between ribonuclease H2 and the antiviral immune response that warrants further investigation.
View Article and Find Full Text PDFIn children with a myopathy, muscle biopsy, together with the clinical presentation, can guide further investigations. The presence of centrally located nuclei suggests a myotubular myopathy, and gene testing may confirm this diagnosis. We describe a male child with a mild form of X-linked myotubular myopathy for which repeated muscle biopsy did not show the characteristic pattern of centrally located nuclei.
View Article and Find Full Text PDFHigh-throughput screening of chemical libraries and the subsequent rapid progress of hit compounds through an iterative developmental test cascade are essential parts of modern molecular mechanism-based drug discovery. These processes depend on the use of efficient assay technologies and equipment. Enzyme-linked immunosorbent assays have historically been carried out in 96-well microtitre plates.
View Article and Find Full Text PDFKohlschutter syndrome is a rare neurodegenerative disorder presenting with intractable seizures, developmental regression and characteristic hypoplastic dental enamel indicative of amelogenesis imperfecta. We report a new family with two affected siblings.
View Article and Find Full Text PDFThe process by which senior hospital doctors are disciplined within the National Health Service is analysed. The mechanisms used are discussed and a number of faults are identified. Many of these faults give an unfair advantage to management and are contrary to the rules of 'Natural Justice'.
View Article and Find Full Text PDFDev Med Child Neurol
December 2002
Functional outcome and provision of care to 82 children (males:females 2.7:1; age range 0 to 16 years) with severe head injury were investigated. The children were admitted to the intensive care units of the Regional Neuroscience Units of the Greater Manchester and Lancashire districts of the North West Region of the UK between 1994 and 1996.
View Article and Find Full Text PDFHereditary periodic fever syndromes comprise a group of distinct disease entities linked by the defining feature of recurrent febrile episodes. Hyper IgD with periodic fever syndrome (HIDS) is caused by mutations in the mevalonate kinase (MVK) gene. The mechanisms by which defects in the MVK gene cause febrile episodes are unclear and there is no uniformly effective treatment.
View Article and Find Full Text PDFA single laboratory study was carried out to compare E Test with broth microdilution and disk diffusion to establish tentative quality control ranges for Nocardia asteroides ATCC 19247 and Rhodococcus equi ATCC 6939 against a panel of eight antimicrobial agents. Reproducibility testing was performed on 12 consecutive days to establish tentative quality control ranges. A total of 36 clinical strains of the Nocardia asteroides complex and 5 Rhodococcus strains were used in the study.
View Article and Find Full Text PDFA sister and brother with developmental delay, hirsutism and variable nail hypoplasia are described. The facial features of these sibs are striking. We postulate that this represents a new syndrome, the inheritance of which is unknown.
View Article and Find Full Text PDF