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"Power, Alan"
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Disney bedtime favorites
\"Sweet dreams! Get ready for bedtime with all your favorite Disney and Disney-Pixar characters. Help Rapunzel and Flynn find a way to get Max to sleep, explore the Pride Lands at night with Simba and Nala, have an after-dark underwater adventure with Marlin and Nemo, and more! This enchanting collection, feauturing new stories, makes bedtime fun!\"--Back cover. \"The third edition of this top-selling storybook has been updated with new stories and illustrations. With eighteen stories, gilded pages, and over 250 pieces of spot and full-page art, this storybook collection is a must-have for bedtime!\"--Amazon.
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Neural entrainment to rhythmic speech in children with developmental dyslexia
A rhythmic paradigm based on repetition of the syllable \"ba\" was used to study auditory, visual, and audio-visual oscillatory entrainment to speech in children with and without dyslexia using EEG. Children pressed a button whenever they identified a delay in the isochronous stimulus delivery (500 ms; 2 Hz delta band rate). Response power, strength of entrainment and preferred phase of entrainment in the delta and theta frequency bands were compared between groups. The quality of stimulus representation was also measured using cross-correlation of the stimulus envelope with the neural response. The data showed a significant group difference in the preferred phase of entrainment in the delta band in response to the auditory and audio-visual stimulus streams. A different preferred phase has significant implications for the quality of speech information that is encoded neurally, as it implies enhanced neuronal processing (phase alignment) at less informative temporal points in the incoming signal. Consistent with this possibility, the cross-correlogram analysis revealed superior stimulus representation by the control children, who showed a trend for larger peak r-values and significantly later lags in peak r-values compared to participants with dyslexia. Significant relationships between both peak r-values and peak lags were found with behavioral measures of reading. The data indicate that the auditory temporal reference frame for speech processing is atypical in developmental dyslexia, with low frequency (delta) oscillations entraining to a different phase of the rhythmic syllabic input. This would affect the quality of encoding of speech, and could underlie the cognitive impairments in phonological representation that are the behavioral hallmark of this developmental disorder across languages.
Journal Article
Gerstmann-Sträussler-Scheinker syndrome with de novo PRNP P102L mutation in a young adult
IntroductionGerstmann-Sträussler-Scheinker (GSS) syndrome, caused by the PRNP P102L mutation is cha- racterized by slowly ascending distal lower limb sensory loss, cerebellar ataxia, pyramidal signs, followed later by cognitive decline, with a median survival of 4-5 years. Prevalence is around 1-10/100,000,000, with an estimated 56 families described worldwide. P102L-GSS is associated with PrP amyloid deposition and subsequent spongiform change in the cortex, basal ganglia, cerebellum and brainstem. Other distinct clinical manifestations of P102L include pure cognitive and CJD-like syndromes.CaseWe describe a 28-year-old female with a 4-year history of slowly progressive ataxia, dysarthria and spastic paraparesis; she now requires the aid of one crutch to mobilise. MRI of brain and spinal cord were unremarkable. Whole exome sequencing returned a P102L mutation in PRNP; codon 129 was valine homozygous. Both parents tested negative, suggesting a de novo mutation. She was referred for specialist evaluation at the NHS National Prion Clinic in London, and was enrolled in the UK National Prion Monitoring Cohort.DiscussionP102L co-allelic with 129V is extremely rare in GSS. We speculate that this may be related to the younger than average age of onset in this case and the clinical phenotype with prominent spasticity.
Journal Article
VCP multisystem proteinopathy: a ubiquitous culprit of neuronal degeneration
BackgroundInclusion body myopathy associated with Paget disease of the bone and frontotemporal dementia (IBMPFD) is a rare, autosomal dominant disorder, caused by a mutation in the valosin-containing protein (VCP) gene. The incidence is quoted to be 1:300,000. IBMPFD is a multisystem disorder, in which muscle weakness a common presenting symptom, and the only manifestation in 30% of cases.CaseWe present the case of a 50 year old male with an adult onset, distal predominant myopathic disorder. Symptom onset was at age 45 with bilateral foot drop which progressed over a two year period to symmetrically involve knee flexor and extensors in addition to muscles of the distal upper limbs. Examination revealed distal upper limb, and distal and proximal lower limb wasting with diminished reflexes. CK was mildly elevated at 381 U/L. Electromyography revealed a distal predominant myopathic process with a sensorimotor axonal neuropathy. Light microscopy of muscle biopsy showed dystrophic features, vacuoles and markedly reduced dysferlin. A multigene panel for distal myopathy revealed a heterozygous mutation in the VCP gene.DiscussionIMBPFD is a phenotypically heterogenous disorder with much intrafamilial variability in pres- entation and should be considered in the differential diagnosis of an adult onset progressive myopathy.
Journal Article
Late-Onset Tay-Sachs (LOTS) disease presenting with a neuromuscular phenotype – a case series
BackgroundTay-Sachs disease is a rare, and often fatal, autosomal recessive, lysosomal storage disease. Deficiency in ß-Hexosaminidase A (HEX A) leads to accumulation of GM ganglioside resulting in neuronal swelling and degeneration. Typical onset is in infancy with developmental regression and early death. Late-onset Tay-Sachs disease (LOTS) is extremely rare, especially in the non-Ashkenazi Jewish population, and is characterised by a more indolent presentation, typically encompassing features of cer- ebellar and anterior horn cell dysfunction in addition to extrapyramidal and neuropsychiatric symptoms.Case SummariesWe present four adult patients with known LOTS from four unrelated non-consanguineous families. Each had neurophysiological evidence of chronic motor axonal loss in the limbs, accompanied in 2 cases by peripheral sensory axonal loss. Cerebellar atrophy, reported to be a ubiquitous feature on MRI in LOTS, was absent in all cases.DiscussionOur case series supports the existence of a pure neuromuscular phenotype in LOTS. This condition should be considered in the differential diagnosis of anterior horn cell disorders.
Journal Article
Oscillatory \temporal sampling\ and developmental dyslexia: toward an over-arching theoretical framework
[...]the TSF proposed that atypical oscillatory sampling at one or more temporal rates in children with dyslexia could cause phonological difficulties in specifying linguistic units such as syllables. [...]in order to establish the possible causal role of different visual and auditory sensory processes to reading development, and to identify their sequential contributions during the developmental learning trajectory, a range of developmental research designs are required. At minimum, evidence is required that: 1. the sensory/neural deficit precedes being taught to read 2. the sensory/neural deficit affects aspects of cognitive development other than reading (e.g., musical development for auditory deficits, conceptual development for visual deficits) in predictable ways 3. the sensory/neural deficit can be demonstrated when children with dyslexia are compared to younger children whose reading skills are matched with the dyslexics (this research design aims to equate the effect of reading experience on the brain; the reading level match research design) 4. developmental trajectories are followed in longitudinal studies, exploring the complex interplay of auditory and visual sensory/neural and cognitive processes during the development of reading, thereby establishing the developmental primacy of the candidate deficit 5. the sensory/neural deficit is consistent across different languages and orthographies 6. training the candidate deficit has demonstrable effects upon subsequent reading development Longitudinal studies, beginning before reading is taught and carried out across languages, are enormously important to the field (e.g., Boets et al., 2011; Franceschini et al., 2012). Reading difficulties may be comorbid with other difficulties such as attention-deficit-hyperactivity disorder (ADHD); the possible effects of co-morbid disorders on sensory processing must be taken into account (Thaler et al., 2009).
Journal Article
Quantitative and Computational Spinal Imaging in Neurodegenerative Conditions and Acquired Spinal Disorders: Academic Advances and Clinical Prospects
Introduction: Quantitative spinal cord imaging has facilitated the objective appraisal of spinal cord pathology in a range of neurological conditions both in the academic and clinical setting. Diverse methodological approaches have been implemented, encompassing a range of morphometric, diffusivity, susceptibility, magnetization transfer, and spectroscopy techniques. Advances have been fueled both by new MRI platforms and acquisition protocols as well as novel analysis pipelines. The quantitative evaluation of specific spinal tracts and grey matter indices has the potential to be used in diagnostic and monitoring applications. The comprehensive characterization of spinal disease burden in pre-symptomatic cohorts, in carriers of specific genetic mutations, and in conditions primarily associated with cerebral disease, has contributed important academic insights. Methods: A narrative review was conducted to examine the clinical and academic role of quantitative spinal cord imaging in a range of neurodegenerative and acquired spinal cord disorders, including hereditary spastic paraparesis, hereditary ataxias, motor neuron diseases, Huntington’s disease, and post-infectious or vascular disorders. Results: The clinical utility of specific methods, sample size considerations, academic role of spinal imaging, key radiological findings, and relevant clinical correlates are presented in each disease group. Conclusions: Quantitative spinal cord imaging studies have demonstrated the feasibility to reliably appraise structural, microstructural, diffusivity, and metabolic spinal cord alterations. Despite the notable academic advances, novel acquisition protocols and analysis pipelines are yet to be implemented in the clinical setting.
Journal Article
Multiple paternity and female sperm usage along egg-case strings of the knobbed whelk, Busycon carica (Mollusca; Melongenidae)
We used genotypic data from three highly polymorphic microsatellite loci (two autosomal and one sex-linked) to examine micro-spatial and temporal arrangements of genetic paternity for more than 1,500 embryos housed along 12 egg-case strings of the knobbed whelk, Busycon carica. Multiple paternity proved to be the norm in these single-dam families, with genetic contributions of several sires (at least 3.5 on average) being represented among embryos within individual egg capsules as well as along the string. Two strings were studied in much greater detail; five and seven fathers were identified, none of which was among the several males found in consort with the female at her time of egg-laying. Each deduced sire had fathered roughly constant proportions of embryos along most of the string, but those proportions differed consistently among fathers. A few significant paternity shifts at specifiable positions along an egg-case string were also observed. Although the precise physical mechanisms inside a female whelk's reproductive tract remain unknown, our genetic findings indicate that successive fertilization events (and/or depositions of zygotes into egg capsules) normally occur as near-random draws from a well-but-not-perfectly blended pool of gametes (or zygotes) stemming from stored ejaculates, perhaps in different titers, of a dam's several mates. [PUBLICATION ABSTRACT]
Journal Article
Genetic sex determination, gender identification and pseudohermaphroditism in the knobbed whelk, Busycon carica (Mollusca: Melongenidae)
We report perhaps the first genic-level molecular documentation of a mammalian-like 'X-linked' mode of sex determination in molluscs. From family inheritance data and observed associations between sex-phenotyped adults and genotypes in Busycon carica, we deduce that a polymorphic microsatellite locus (bc2.2) is diploid and usually heterozygous in females, hemizygous in males, and that its alleles are transmitted from mothers to sons and daughters but from fathers to daughters only. We also employ bc2.2 to estimate near-conception sex ratio in whelk embryos, where gender is indeterminable by visual inspection. Statistical corrections are suggested at both family and population levels to accommodate the presence of homozygous bc2.2 females that could otherwise be genetically mistaken for hemizygous males. Knobbed whelks were thought to be sequential hermaphrodites, but our evidence for genetic dioecy supports an earlier hypothesis that whelks are pseudohermaphroditic (falsely appear to switch functional sex when environmental conditions induce changes in sexual phenotype). These findings highlight the distinction between gender in a genetic versus phenotypic sense.
Journal Article