Postural directionality and head tremor in cervical dystonia

Background: Although abnormal head and neck postures are defining features of cervical dystonia (CD), head tremor (HT) is also common. However, little is known about the relationship between abnormal postures and HT in CD. Methods: We analyzed clinical data and video recordings from 185 patients enrolled by the Dystonia Coalition. We calculated the likelihood of their HT and HT type ( regular vs. jerky ) given directionality of abnormal head postures, disease duration, sex, and age. Results: Patients with retrocollis were more likely to have HT than patients with anterocollis (X Discussion: We found that HT is more likely for CD patients with a specific directionality in their predominant posture. Our finding that CD patients with longer disease duration have a higher likelihood of HT also raises the question of whether HT becomes more likely over time in individual patients

Confucius computer: a philosophical digital agent for intergenerational philosophical play

Confucianism is commonly defined as “... a system of philosophical, ethical and political thought based on the teachings of Confucius,” which originated through the teachings of Confucius during the sixth-century BCE. It is a way of life or a philosophy of human nature that considers human relationships as the foundation of the society. Confucius teachings had highly influenced the development of several cultures in Asia, making Confucianism an intangible cultural heritage. In this paper, we are re-acquainting users with an intangible heritage that is part of their everyday, by developing a system that permits experiencing Confucius teachings virtually and interactively. The system can measure philosophical intent of the human and generate meaningful philosophical answers. It is also aimed for intergenerational sharing of Confucius heritage through a simple interactive process with the virtual sage making the experience enjoyable and entertaining. Previous research in natural language processing (NLP) mainly focused on the understanding and delivering of human natural language accurately. In this research, we explored how to apply NLP to model the knowledge and teachings of Confucius, through the natural conversation between human and computer. This virtual Confucius, a chat agent that generates outputs based on Confucius teachings, using a series of algorithms and techniques to improve the matching accuracy between user input and computer output, introduces a novel way of interacting with intangible cultures. Our user evaluation results revealed that there is a positive correlation between relevance and enjoyment, finding their experiences interacting with virtual Confucius very encouraging. Adults who participated in experiencing the virtual Confucius together with their children believed that this system has the potential to improve intergenerational interactions through shared play

CB1 Cannabinoid Receptor Activation Dose-Dependently Modulates Neuronal Activity within Caudal but not Rostral Song Control Regions of Adult Zebra Finch Telencephalon

CB1 cannabinoid receptors are distinctly expressed at high density within several regions of zebra finch telencephalon including those known to be involved in song learning (lMAN and Area X) and production (HVC and RA). Because: (1) exposure to cannabinoid agonists during developmental periods of auditory and sensory-motor song learning alters song patterns produced later in adulthood and; (2) densities of song region expression of CB1 waxes-and-wanes during song learning, it is becoming clear that CB1 receptor-mediated signaling is important to normal processes of vocal development. To better understand mechanisms involved in cannabinoid modulation of vocal behavior we have investigated the dose-response relationship between systemic cannabinoid exposure and changes in neuronal activity (as indicated by expression of the transcription factor, c- Fos) within telencephalic brain regions with established involvement in song learning and/or control. In adults we have found that low doses (0.1 mg/kg) of the cannabinoid agonist WIN-55212-2 decrease neuronal activity (as indicated by densities of c-fos-expressing nuclei) within vocal motor regions of caudal telencephalon (HVC and RA) while higher doses (3 mg/kg) stimulate activity. Both effects were reversed by pretreatment with the CB1-selective antagonist rimonabant. Interestingly, no effects of cannabinoid treatment were observed within the rostral song regions lMAN and Area X, despite distinct and dense CB1 receptor expression within these areas. Overall, our results demonstrate that, depending on dosage, CB1 agonism can both inhibit and stimulate neuronal activity within brain regions controlling adult vocal motor output, implicating involvement of multiple CB1-sensitive neuronal circuits. Originally published Psychopharmacology, Vol. 199, No. 2, Aug 200

A novel RUNX2 missense mutation predicted to disrupt DNA binding causes cleidocranial dysplasia in a large Chinese family with hyperplastic nails

Background: Cleidocranial dysplasia (CCD) is a dominantly inherited disease characterized by hypoplastic or absent clavicles, large fontanels, dental dysplasia, and delayed skeletal development. The purpose of this study is to investigate the genetic basis of Chinese family with CCD. Methods: Here, a large Chinese family with CCD and hyperplastic nails was recruited. The clinical features displayed a significant intrafamilial variation. We sequenced the coding region of the RUNX2 gene for the mutation and phenotype analysis. Results: The family carries a c. T407C (p.L136P) mutation in the DNA- and CBF beta-binding Runt domain of RUNX2. Based on the crystal structure, we predict this novel missense mutation is likely to disrupt DNA binding by RUNX2, and at least locally affect the Runt domain structure. Conclusion: A novel missense mutation was identified in a large Chinese family with CCD with hyperplastic nails. This report further extends the mutation spectrum and clinical features of CCD. The identification of this mutation will facilitate prenatal diagnosis and preimplantation genetic diagnosis

Finishing the euchromatic sequence of the human genome

The sequence of the human genome encodes the genetic instructions for human physiology, as well as rich information about human evolution. In 2001, the International Human Genome Sequencing Consortium reported a draft sequence of the euchromatic portion of the human genome. Since then, the international collaboration has worked to convert this draft into a genome sequence with high accuracy and nearly complete coverage. Here, we report the result of this finishing process. The current genome sequence (Build 35) contains 2.85 billion nucleotides interrupted by only 341 gaps. It covers ∼99% of the euchromatic genome and is accurate to an error rate of ∼1 event per 100,000 bases. Many of the remaining euchromatic gaps are associated with segmental duplications and will require focused work with new methods. The near-complete sequence, the first for a vertebrate, greatly improves the precision of biological analyses of the human genome including studies of gene number, birth and death. Notably, the human enome seems to encode only 20,000-25,000 protein-coding genes. The genome sequence reported here should serve as a firm foundation for biomedical research in the decades ahead

Locally Finite Dimensional Shift-Invariant Spaces in R^d

We prove that a locally finite dimensional shift-invariant linear space of distributions must be a linear subspace of some shift-invariant space generated by finitely many compactly supported distributions. If the locally finite dimensional shift-invariant space is a subspace of the Holder continuous space C or the fractional Sobolev space L , then the superspace can be chosen to be C or L , respectively. 1