Feeling the Beat: Bouncing Synchronization to Vibrotactile Music in Hearing and Early Deaf People

The ability to dance relies on the ability to synchronize movements to a perceived musical beat. Typically, beat synchronization is studied with auditory stimuli. However, in many typical social dancing situations, music can also be perceived as vibrations when objects that generate sounds also generate vibrations. This vibrotactile musical perception is of particular relevance for deaf people, who rely on non-auditory sensory information for dancing. In the present study, we investigated beat synchronization to vibrotactile electronic dance music in hearing and deaf people. We tested seven deaf and 14 hearing individuals on their ability to bounce in time with the tempo of vibrotactile stimuli (no sound) delivered through a vibrating platform. The corresponding auditory stimuli (no vibrations) were used in an additional condition in the hearing group. We collected movement data using a camera-based motion capture system and subjected it to a phase-locking analysis to assess synchronization quality. The vast majority of participants were able to precisely time their bounces to the vibrations, with no difference in performance between the two groups. In addition, we found higher performance for the auditory condition compared to the vibrotactile condition in the hearing group. Our results thus show that accurate tactile-motor synchronization in a dance-like context occurs regardless of auditory experience, though auditory-motor synchronization is of superior quality

The impact of food assistance on food insecure populations during conflict: evidence from a quasi-experiment in Mali

Mali, a vast landlocked country at the heart of West Africa in the Sahel region, is one of the least developed and most food insecure countries in the world. Mali suffered from a series of political, constitutional and military crises since January 2012, including the loss of government control of northern territories from April 2012 until January 2013. A range of humanitarian aid interventions were scaled up in response to these complex crises. In this study, we exploit data from a unique pre-crisis baseline to evaluate the impact of humanitarian aid on the food security of rural populations. We design a quasi-experimental study based on two survey rounds, five years apart, in the Mopti region in Northern Mali. Data was collected from 66 communities randomly selected from within food-insecure districts. Study outcomes include household expenditures and food consumption and a proxy for child nutritional status (height measurements). We estimate program impact by combining propensity score matching and difference-in-difference. Food assistance was found to increase household non-food and food expenditures and micro-nutrient availability. Disaggregating by degree of conflict exposure showed that the effects on children’s height and caloric and micro-nutrient consumption were mostly concentrated in areas not in the immediate vicinity of the conflict, unlike the increase in food expenditures that were driven by households located in close proximity to armed groups. The effects were also concentrated on households receiving at least two forms of food assistance. In villages where armed groups were present, food assistance improved household zinc consumption and also appeared to support food expenditures. Food transfers are thus found to exert a protective effect among food insecure population in conflict context

Ataxia with oculomotor apraxia type 2: clinical, biological and genotype/phenotype correlation study of a cohort of 90 patients

Ataxia with oculomotor apraxia type 2 (AOA2) is an autosomal recessive disease due to mutations in the senataxin gene, causing progressive cerebellar ataxia with peripheral neuropathy, cerebellar atrophy, occasional oculomotor apraxia and elevated alpha-feto-protein (AFP) serum level. We compiled a series of 67 previously reported and 58 novel ataxic patients who underwent senataxin gene sequencing because of suspected AOA2. An AOA2 diagnosis was established for 90 patients, originating from 15 countries worldwide, and 25 new senataxin gene mutations were found. In patients with AOA2, median AFP serum level was 31.0 mu g/l at diagnosis, which was higher than the median AFP level of AOA2 negative patients: 13.8 mu g/l, P = 0.0004; itself higher than the normal level (3.4 mu g/l, range from 0.5 to 17.2 mu g/l) because elevated AFP was one of the possible selection criteria. Polyneuropathy was found in 97.5% of AOA2 patients, cerebellar atrophy in 96%, occasional oculomotor apraxia in 51%, pyramidal signs in 20.5%, head tremor in 14%, dystonia in 13.5%, strabismus in 12.3% and chorea in 9.5%. No patient was lacking both peripheral neuropathy and cerebellar atrophy. The age at onset and presence of occasional oculomotor apraxia were negatively correlated to the progression rate of the disease (P = 0.03 and P = 0.009, respectively), whereas strabismus was positively correlated to the progression rate (P = 0.03). An increased AFP level as well as cerebellar atrophy seem to be stable in the course of the disease and to occur mostly at or before the onset of the disease. One of the two patients with a normal AFP level at diagnosis had high AFP levels 4 years later, while the other had borderline levels. The probability of missing AOA2 diagnosis, in case of sequencing senataxin gene only in non-Friedreich ataxia non-ataxia-telangiectasia ataxic patients with AFP level >= 7 mu g/l, is 0.23% and the probability for a non-Friedreich ataxia non-ataxia-telangiectasia ataxic patient to be affected with AOA2 with AFP levels >= 7 mu g/l is 46%. Therefore, selection of patients with an AFP level above 7 mu g/l for senataxin gene sequencing is a good strategy for AOA2 diagnosis. Pyramidal signs and dystonia were more frequent and disease was less severe with missense mutations in the helicase domain of senataxin gene than with missense mutations out of helicase domain and deletion and nonsense mutations (P = 0.001, P = 0.008 and P = 0.01, respectively). The lack of pyramidal signs in most patients may be explained by masking due to severe motor neuropathy

Chlorophyll fluorescence-based high-throughput phenotyping facilitates the genetic dissection of photosynthetic heat tolerance in African (Oryza glaberrima) and Asian (Oryza sativa) rice.

Acknowledgements We are grateful to the University of Nottingham glasshouse staff for their assistance with general plant maintenance. We acknowledge the insight of two anonymous reviews whose comments greatly improved this manuscript. JR and JNF were supported by the Palaeobenchmarking Resilient Agriculture Systems (PalaeoRAS) project funded by the Future Food Beacon of the University of Nottingham.Peer reviewedPostprin

Gerstmann-Straussler-Scheinker disease in an Alsatian family: clinical and genetic studies

The clinical progression of Gerstmann-Straussler-Scheinker disease in a family of Alsatian origin is reported. The age of onset and the duration of evolution were variable. The clinical picture became more complex over the generations: in the first generations, isolated dementia and in later generations a triad of pyramidal, pseudobulbar syndromes and dementia associated with spinal cord and cerebellar features. Prion gene analysis showed that four surviving patients carry double missense changes at codons 117 and 129, identical to those found in one case at necropsy and 10 other healthy members of the family. The missense changes were not found in 100 controls. No member of the family had modification of condons 102, 178, or 200. The lod score suggests linkage between the missense change at codon 117 and Gerstmann- Straussler-Scheinker disease in this family

Recessive Ataxia Diagnosis Algorithm for the Next Generation Sequencing Era

OBJECTIVE: Differential diagnosis of autosomal recessive cerebellar ataxias can be challenging. A ranking algorithm named RADIAL that predicts the molecular diagnosis based on the clinical phenotype of a patient has been developed to guide genetic testing and to align genetic findings with the clinical context. METHODS: An algorithm that follows clinical practice, including patient history, clinical, magnetic resonance imaging, electromyography, and biomarker features, was developed following a review of the literature on 67 autosomal recessive cerebellar ataxias and personal clinical experience. Frequency and specificity of each feature were defined for each autosomal recessive cerebellar ataxia, and corresponding prediction scores were assigned. Clinical and paraclinical features of patients are entered into the algorithm, and a patient's total score for each autosomal recessive cerebellar ataxia is calculated, producing a ranking of possible diagnoses. Sensitivity and specificity of the algorithm were assessed by blinded analysis of a multinational cohort of 834 patients with molecularly confirmed autosomal recessive cerebellar ataxia. The performance of the algorithm was assessed versus a blinded panel of autosomal recessive cerebellar ataxia experts. RESULTS: The correct diagnosis was ranked within the top 3 highest‐scoring diagnoses at a sensitivity and specificity of >90% for 84% and 91% of the evaluated genes, respectively. Mean sensitivity and specificity of the top 3 highest‐scoring diagnoses were 92% and 95%, respectively. The algorithm outperformed the panel of ataxia experts (p = 0.001). INTERPRETATION: Our algorithm is highly sensitive and specific, accurately predicting the underlying molecular diagnoses of autosomal recessive cerebellar ataxias, thereby guiding targeted sequencing or facilitating interpretation of next‐generation sequencing data

Low penetrance in facioscapulohumeral muscular dystrophy type 1 with large pathological D4Z4 alleles: a cross-sectional multicenter study.

BackgroundFacioscapulohumeral muscular dystrophy type 1(FSHD1) is an autosomal dominant disorder associated with the contraction of D4Z4 less than 11 repeat units (RUs) on chromosome 4q35. Penetrance in the range of the largest alleles is poorly known. Our objective was to study the penetrance of FSHD1 in patients carrying alleles ranging between 6 to10 RUs and to evaluate the influence of sex, age, and several environmental factors on clinical expression of the disease. Methods A cross-sectional multicenter study was conducted in six French and one Swiss neuromuscular centers. 65 FSHD1 affected patients carrying a 4qA allele of 6¿10 RUs were identified as index cases (IC) and their 119 at-risk relatives were included. The age of onset was recorded for IC only. Medical history, neurological examination and manual muscle testing were performed for each subject. Genetic testing determined the allele size (number of RUs) and the 4qA/4qB allelic variant. The clinical status of relatives was established blindly to their genetic testing results. The main outcome was the penetrance defined as the ratio between the number of clinically affected carriers and the total number of carriers. Results Among the relatives, 59 carried the D4Z4 contraction. At the clinical level, 34 relatives carriers were clinically affected and 25 unaffected. Therefore, the calculated penetrance was 57% in the range of 6¿10 RUs. Penetrance was estimated at 62% in the range of 6¿8 RUs, and at 47% in the range of 9¿10 RUs. Moreover, penetrance was lower in women than men. There was no effect of drugs, anesthesia, surgery or traumatisms on the penetrance. Conclusions Penetrance of FSHD1 is low for largest alleles in the range of 9¿10 RUs, and lower in women than men. This is of crucial importance for genetic counseling and clinical management of patients and families

Dihaploid Coffea arabica genome sequencing and assembly.

Coffea arabica which accounts for 70% of world coffee production is an allotetraploid with a genome size of approximately 1.3 Gb and is derived from the hybridization of C. canephora (710 Mb) and C. eugenioides (670 Mb). To elucidate the evolutionary history of C. arabica, and generate critical information for breeding programs, a sequencing project is underway to finalize a reference genome using a dihaploid line and a set of Menu Abstract: Dihaploid Coffea arabica Genome Sequencing and Assembly (Plant and Animal Genome XXIII Conference) https://pag.confex.com/pag/xxiii/webprogram/Paper16983.html [25/02/2015 15:00:12] 30 C. arabica accessions

The coffee genome provides insight into the convergent evolution of caffeine biosynthesis.

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