Complex movement disorders in Ataxia with oculomotor apraxia type 1: Beyond the cerebellar syndrome

Background: Ataxia with oculomotor apraxia (AOA1) is characterized by early-onset progressive cerebellar ataxia with peripheral neuropathy, oculomotor apraxia and hypoalbuminemia and hypercholesterolemia. Case Report: A 23-year-old previously healthy woman presented with slowly-progressive gait impairment since the age of six years. Neurological examination revealed profound areflexia, chorea, generalized dystonia and oculomotor apraxia. Brain MRI revealed mild cerebellar atrophy and needle EMG showed axonal sensorimotor neuropathy. Whole exome sequencing revealed a mutation in the aprataxin gene. Discussion: AOA1 can present with choreoathetosis mixed with dystonic features, resembling ataxia-telangiectasia. This case is instructive since mixed and complex movement disorders is not very common in AOA1. Highlights: • Ataxia with oculomotor apraxia type 1 (AOA1) is characterized by early-onset ataxia and oculomotor apraxia caused by variants in the APTX gene. • Ataxia is usually not the sole movement abnormality in AOA1. • Hyperkinetic movement disorders, especially chorea and dystonia, may occur. • Mixed and complex movement disorders is not very common in AOA1. • Patients with early-onset ataxia associated with mixed movement disorders should also be investigated for AOA1

Chemical trends in the Galactic halo from APOGEE data

Indexación: Web of Science; Scopus.The galaxy formation process in the A cold dark matter scenario can be constrained from the analysis of stars in the Milky Way's halo system. We examine the variation of chemical abundances in distant halo stars observed by the Apache Point Observatory Galactic Evolution Experiment ( APOGEE), as a function of distance from the Galactic Centre ( r) and iron abundance ([M/H]), in the range 5 less than or similar to r less than or similar to 30 kpc and - 2.5 15 kpc and [M/H] > - 1.1 (larger in the case of O, Mg, and S) with respect to the nearest halo stars. This result confirms previous claims for low-alpha stars found at larger distances. Chemical differences in elements with other nucleosynthetic origins (Ni, K, Na, and Al) are also detected. C and N do not provide reliable information about the interstellar medium from which stars formed because our sample comprises red giant branch and asymptotic giant branch stars and can experience mixing of material to their surfaces.https://academic.oup.com/mnras/article-lookup/doi/10.1093/mnras/stw286

Divergent mathematical treatments in utility theory

In this paper I study how divergent mathematical treatments affect mathematical modelling, with a special focus on utility theory. In particular I examine recent work on the ranking of information states and the discounting of future utilities, in order to show how, by replacing the standard analytical treatment of the models involved with one based on the framework of Nonstandard Analysis, diametrically opposite results are obtained. In both cases, the choice between the standard and nonstandard treatment amounts to a selection of set-theoretical parameters that cannot be made on purely empirical grounds. The analysis of this phenomenon gives rise to a simple logical account of the relativity of impossibility theorems in economic theory, which concludes the paper

Identification and functional characterisation of CRK12:CYC9, a novel cyclin-dependent kinase (CDK)-cyclin complex in Trypanosoma brucei

The protozoan parasite, Trypanosoma brucei, is spread by the tsetse fly and causes trypanosomiasis in humans and animals. Both the life cycle and cell cycle of the parasite are complex. Trypanosomes have eleven cdc2-related kinases (CRKs) and ten cyclins, an unusually large number for a single celled organism. To date, relatively little is known about the function of many of the CRKs and cyclins, and only CRK3 has previously been shown to be cyclin-dependent in vivo. Here we report the identification of a previously uncharacterised CRK:cyclin complex between CRK12 and the putative transcriptional cyclin, CYC9. CRK12:CYC9 interact to form an active protein kinase complex in procyclic and bloodstream T. brucei. Both CRK12 and CYC9 are essential for the proliferation of bloodstream trypanosomes in vitro, and we show that CRK12 is also essential for survival of T. brucei in a mouse model, providing genetic validation of CRK12:CYC9 as a novel drug target for trypanosomiasis. Further, functional characterisation of CRK12 and CYC9 using RNA interference reveals roles for these proteins in endocytosis and cytokinesis, respectively

Low-energy electron collisions with acetic acid

We present cross sections for elastic collisions of low-energy electrons with acetic acid. We employed the Schwinger multichannel method with pseudopotentials in the static-exchange and static-exchange plus polarization approximations, for energies ranging from 0.1 to 10 eV. We found a pi(*) shape resonance around 1.7 eV, corresponding to the A(') symmetry of the C(s) group. This resonant state was assigned to the experimental dissociative electron attachment peak at 1.7 eV yielding CH(3)COO(-)+H. We also performed a series of electronic structure calculations using a small basis set for acetic, formic, and trifluoroacetic acids, which exhibit a similar behavior with respect to the dissociative electron attachment. We believe that hydrogen elimination triggered off by electron capture into a pi(*) resonance could be a general property of carboxylic acids.79

Transcriptome changes in newborn goats' skeletal muscle as a result of maternal feed restriction at different stages of gestation

We investigated how feed restriction at 50% of maintenance requirements during different stages of gestation affects the transcriptome of newborn goats' skeletal muscle. Fourteen pregnant dams were randomly assigned into one of the following dietary treatments: animals fed at 50% of maintenance requirement from 8-84 d of gestation and then fed at 100% of maintenance requirement from day 85 of gestation to parturition (RM, n = 6), and animals fed at 100% of maintenance requirement from 8-84 d of gestation and then fed at 50% of maintenance requirement from day 85 of gestation to parturition (MR, n = 8). At birth, samples of offspring's Longissimus muscle were collected for total RNA extraction and sequencing. Our data showed 66 differentially expressed (DE) genes (FDR < 0.05). A total of 6 genes were upregulated and 60 downregulated (FDR < 0.05) in the skeletal muscle of the newborns resulting from treatment RM compared with MR. Our results suggest that the DE genes upregulated in newborn goats' skeletal muscle from the RM group compared to MR, included genes related to satellite cells, and genes that indicates impaired insulin sensitivity and changes in the composition of intramuscular fat. The DE genes upregulated in newborn goats' skeletal muscle from the MR group compared to RM, are also related to impaired insulin sensitivity, as well as a predominantly oxidative metabolism and cellular oxidative stress. However, protective mechanisms against insulin sensitivity and oxidative stress may have been augmented in the skeletal muscle of offspring from MR treatment compared to RM, in order to maintain cellular homeostasis

Health-related quality of life in patients with venous leg ulcer treated in primary care in Brazil and Portugal

Background Venous ulcers constitute an important public health problem as they can cause disability with consequences for multiple dimensions of quality of life. Objective To describe the quality of life in patients with venous leg ulcer treated in primary care in two cities from Brazil and Portugal. Methods This was a cross-sectional comparative study with a non-probabilistic sample of 171 patients with venous leg ulcers who were treated in primary care in two cities from Brazil and Portugal, namely, Natal and Évora. A form covering sociodemographic and health data and the Medical Outcomes Study 36-Item Short-Form Health Survey were used, and descriptive and inferential analyses were performed. Results Significant differences in age and income were observed between the two samples. Patients with venous leg ulcer from Brazil had lower income and were younger than those from Portugal. Quality of life scores were significantly higher in Portugal for the physical aspects, pain, and social functioning, among domains, and for the physical health dimension and total score of QOL. Conclusion The quality of life was better in Portugal than in Brazil and the differences between the countries need further investigation

Shift Work Is Not Associated with High Blood Pressure or Prevalence of Hypertension

Background: Working mostly at night has been suggested to be associated with upset of chronobiological rhythms and high blood pressure, but the evidence from epidemiological studies is weak. Methods: In a cross-sectional survey, we evaluated the association between shift work and blood pressure, pre-hypertension and hypertension. In total, 493 nurses, nurse technicians and assistants, were selected at random in a large general hospital setting. Hypertension was diagnosed by the mean of four automatic blood pressure readings $140/ 90 mmHg or use of blood pressure lowering agents, and pre-hypertension by systolic blood pressure$120–139 or diastolic blood pressure $80–89 mmHg. Risk factors for hypertension were evaluated by a standardized questionnaire and anthropometric measurements. The association between the shift of work and blood pressure, pre-hypertension and hypertension was explored using univariate and multivariate analyses that controlled for risk factors for hypertension by covariance analysis and modified Poisson regression. Results: The mean age of the participants was 34.369.4 years and 88.2 % were women. Night shift workers were older, more frequently married or divorced, and less educated. The prevalence of hypertension in the whole sample was 16%, and 28% had pre-hypertension. Blood pressure (after adjustment for confounding) was not different in day and night shift workers. The prevalence of hypertension and pre-hypertension by shift work was not different in the univariate analysis and afte

A Ranking System for Reference Libraries of DNA Barcodes: Application to Marine Fish Species from Portugal

BACKGROUND: The increasing availability of reference libraries of DNA barcodes (RLDB) offers the opportunity to the screen the level of consistency in DNA barcode data among libraries, in order to detect possible disagreements generated from taxonomic uncertainty or operational shortcomings. We propose a ranking system to attribute a confidence level to species identifications associated with DNA barcode records from a RLDB. Here we apply the proposed ranking system to a newly generated RLDB for marine fish of Portugal. METHODOLOGY/PRINCIPAL FINDINGS: Specimens (n = 659) representing 102 marine fish species were collected along the continental shelf of Portugal, morphologically identified and archived in a museum collection. Samples were sequenced at the barcode region of the cytochrome oxidase subunit I gene (COI-5P). Resultant DNA barcodes had average intra-specific and inter-specific Kimura-2-parameter distances (0.32% and 8.84%, respectively) within the range usually observed for marine fishes. All specimens were ranked in five different levels (A-E), according to the reliability of the match between their species identification and the respective diagnostic DNA barcodes. Grades A to E were attributed upon submission of individual specimen sequences to BOLD-IDS and inspection of the clustering pattern in the NJ tree generated. Overall, our study resulted in 73.5% of unambiguous species IDs (grade A), 7.8% taxonomically congruent barcode clusters within our dataset, but awaiting external confirmation (grade B), and 18.7% of species identifications with lower levels of reliability (grades C/E). CONCLUSION/SIGNIFICANCE: We highlight the importance of implementing a system to rank barcode records in RLDB, in order to flag taxa in need of taxonomic revision, or reduce ambiguities of discordant data. With increasing DNA barcode records publicly available, this cross-validation system would provide a metric of relative accuracy of barcodes, while enabling the continuous revision and annotation required in taxonomic work

Mediate evaluation of replicating a Training Program in Nonverbal Communication in Gerontology

OBJECTIVE Replicating the training program in non-verbal communication based on the theoretical framework of interpersonal communication; non-verbal coding, valuing the aging aspects in the perspective of active aging, checking its current relevance through the content assimilation index after 90 days (mediate) of its application. METHOD A descriptive and exploratory field study was conducted in three hospitals under direct administration of the state of São Paulo that caters exclusively to Unified Health System (SUS) patients. The training lasted 12 hours divided in three meetings, applied to 102 health professionals. RESULTS Revealed very satisfactory and satisfactory mediate content assimilation index in 82.9%. CONCLUSION The program replication proved to be relevant and updated the setting of hospital services, while remaining efficient for healthcare professionals