Molecular forms of butyrylcholinesterase and obesity

This study compared obese (N = 134) and unobese (N = 92) male blood donors, regarding the relative intensity (RI) and activity of different molecular forms (G1, G2, G4 and G1-ALB) of butyrylcholinesterase (BChE, EC 3.1.1.8) found in plasma, thereby searching for an association between these variables with obesity and SNPs of exons 1 and 4 of the BCHE gene. It was shown that obese and unobese individuals do not differ in the RI of each BChE band, even when classifying the sample into three genotypes of exons 1 and 4 of the BCHE gene (-116GG/539AA, -116GG/539AT, -116GA/539AT). Although the mean BChE activity of each band was significantly higher in obese than in unobese blood donors, the proportions of BChE bands were maintained, even under the metabolic stress associated to obesity, thereby leading to infer that this proportion is somehow regulated, and may therefore be important for BChE functions

Investigation of Association between Susceptibility to Leprosy and SNPs inside and near the BCHE Gene of Butyrylcholinesterase

Leprosy is a chronic disease caused by Mycobacterium leprae and affects the skin and the peripheral nervous system. Butyrylcholinesterase is coded by the BCHE gene, and the atypical allele (70G; rs1799807) has been investigated as a leprosy risk factor, with conflicting results. The present study estimated the frequencies of variants of rs1799807 and of five additional SNPs at the BCHE gene or near it: rs1126680, rs1803274, rs2863381, rs4440084, and rs4387996. A total of 167 patients and 150 healthy controls were genotyped by TaqMan PCR. Significantly higher allelic (70G) and genotypic (70DG) frequencies in rs1799807 were found in the patient group, with odds ratio (OR) of 6.33 (1.40 to 28.53) for the heterozygote. This finding was replicated in a comparison of the cases against a control group of 361 blood donors. The present data suggest that the atypical BChE variant may predispose to leprosy per se

Tympanic paragangliomas: case reports

Glomus tumors, also called paragangliomas, originate from nonchromaffin cells. The tumor is typically vascular and grows from capillary and pre-capillary vessels in-between epithelial cells. It is worth mentioning that the most common symptoms are pulsating tinnitus and hearing loss. Imaging studies (CT and MRI) are necessary for diagnosis. This paper shows five patients seen at the Hospital between 1995 and 2001 presenting glomus tympanicum. Women were most commonly affected, and the age ranged from 48 to 60 years (mean age of 50 years). The most common complaints were pulsating tinnitus and hearing loss. All patients were treated surgically.Os tumores glômicos, também chamados de paragangliomas, são formados por células não cromafins. O tumor é tipicamente vascular formado por vasos capilares e pré-capilares, interposto por células epiteliais. Para a sua abordagem inicial, deve-se ressaltar que os sintomas mais comumentes encontrados são o zumbido pulsátil e hipoacusia. A investigação através de imagem (tomografia computadorizada e ressonância magnética) se faz necessária. Apresentaremos neste trabalho 5 pacientes portadores de paragangliomas timpânicos atendidos no Hospital (de 1995 a 2001). O sexo predominante foi o feminino, a idade variou de 48 a 60 anos, com média de 50 anos. A queixa predominante foi o zumbido pulsátil e a hipoacusia. A conduta foi cirúrgica em todos os casos.Hospital Paulista de OtorrinolaringologiaUNIFESP-EPMUNIFESP, EPMSciEL

Unpredictability in seasonal infectious diseases spread

In this work, we study the unpredictability of seasonal infectious diseases considering a SEIRS model with seasonal forcing. To investigate the dynamical behaviour, we compute bifurcation diagrams type hysteresis and their respective Lyapunov exponents. Our results from bifurcations and the largest Lyapunov exponent show bistable dynamics for all the parameters of the model. Choosing the inverse of latent period as control parameter, over 70% of the interval comprises the coexistence of periodic and chaotic attractors, bistable dynamics. Despite the competition between these attractors, the chaotic ones are preferred. The bistability occurs in two wide regions. One of these regions is limited by periodic attractors, while periodic and chaotic attractors bound the other. As the boundary of the second bistable region is composed of periodic and chaotic attractors, it is possible to interpret these critical points as tipping points. In other words, depending on the latent period, a periodic attractor (predictability) can evolve to a chaotic attractor (unpredictability). Therefore, we show that unpredictability is associated with bistable dynamics preferably chaotic, and, furthermore, there is a tipping point associated with unpredictable dynamics

Three-month vs. one-year detraining effects after multicomponent exercise program in hypertensive older women

Background: Chronic diseases are the leading causes of death and disability in older women. Physical exercise training programs promote beneficial effects for health and quality of life. However, exercise interruption periods may be detrimental for the hemodynamic and lipidic profiles of hypertensive older women with dyslipidemia. Methods: Nineteen hypertensive older women with dyslipidemia (exercise group: 67.5 ± 5.4 years, 1.53 ± 3.42 m, 71.84 ± 7.45 kg) performed a supervised multicomponent exercise training program (METP) during nine months, followed by a one-year detraining period (DT), while fourteen hypertensive older women (control group: 66.4 ± 5.2 years, 1.56 ± 3.10 m, 69.38 ± 5.24 kg) with dyslipidemia kept their continued daily routine without exercise. For both groups, hemodynamic and lipidic profiles and functional capacities (FCs) were assessed four times: before and after the METP and after 3 and 12 months of DT (no exercise was carried out). Results: The METP improved hemodynamic and lipidic profiles (p < 0.05), while three months of DT decreased all (p < 0.05) parameters, with the exception of diastolic blood pressure (DBP). One year of DT significantly (p < 0.01) decreased systolic blood pressure (7.85%), DBP (2.29%), resting heart rate (7.95%), blood glucose (19.14%), total cholesterol (10.27%), triglycerides (6.92%) and FC—agility (4.24%), lower- (−12.75%) and upper-body strength (−12.17%), cardiorespiratory capacity (−4.81%) and lower- (−16.16%) and upper-body flexibility (−11.11%). Conclusion: Nine months of the exercise program significantly improved the hemodynamic and lipid profiles as well as the functional capacities of hypertensive older women with dyslipidemia. Although a detraining period is detrimental to these benefits, it seems that the first three months are more prominent in these alterations.info:eu-repo/semantics/publishedVersio

Neurodevelopmental regression, severe generalized dystonia, and metabolic acidosis caused by POLR3A mutations.

OBJECTIVE: To expand the clinical phenotype of POLR3A mutations by assessing the functional consequences of a missense and a splicing acceptor mutation. METHODS: We performed whole-exome sequencing for identification of likely pathogenic mutations in a 9-year-old female patient with severe generalized dystonia, metabolic acidosis, leukocytosis, hypotonia, and dysphagia. Brain MRI showed basal ganglia atrophy and presence of lactate and lipid peaks by [1H]-magnetic resonance spectroscopy. Expression levels of Pol III target genes were measured by quantitative real-time (qRT)-PCR to study the pathogenicity of the biallelic mutations in patient fibroblasts. RESULTS: The patient is a compound heterozygous for a novel missense c.3721G>A (p.Val1241Met) and the splicing region c.1771-6C>G mutation in POLR3A, the gene coding for the catalytic subunit of RNA polymerase III (Pol III). Aberrant splicing was observed for the c.1771-6C>G mutation. Decreased RNA expression levels of Pol III targets (HNRNPH2, ubiquitin B, lactotransferrin, and HSP90AA1) were observed in patient fibroblasts with rescue to normal levels by overexpression of the wild-type protein but not by the p.Val1241Met variant. CONCLUSIONS: Mutations in the POLR3A gene cause POLR3A-related hypomyelinating leukodystrophy with or without oligodontia or hypogonadotropic hypogonadism (HLD7, OMIM: 607694) and neonatal progeroid syndrome (OMIM: 264090), both with high phenotypic variability. We demonstrated the pathogenicity of c.1771-6C>G and c.3721G>A mutations causing an early-onset disorder. The phenotype of our patient expands the clinical presentation of POLR3A-related mutations and suggests a new classification that we propose designating as Neurodevelopmental Disorder with Regression, Abnormal Movements, and Increased Lactate

Periodic-orbit analysis and scaling laws of intermingled basins of attraction in an ecological dynamical system

Chaotic dynamical systems with two or more attractors lying on invariant subspaces may, provided certain mathematical conditions are fulfilled, exhibit intermingled basins of attraction: Each basin is riddled with holes belonging to basins of the other attractors. In order to investigate the occurrence of such phenomenon in dynamical systems of ecological interest (two-species competition with extinction) we have characterized quantitatively the intermingled basins using periodic-orbit theory and scaling laws. The latter results agree with a theoretical prediction from a stochastic model, and also with an exact result for the scaling exponent we derived for the specific class of models investigated. We discuss the consequences of the scaling laws in terms of the predictability of a final state (extinction of either species) in an ecological experiment.Comment: 24 pages (preprint format), 6 figure

Effects of partial root-zone drying irrigation on cluster microclimate and fruit composition of field-grown Castelão grapevines

The partial root-zone drying (PRD) irrigation technique has been proposed for viticulture as a possible way to save water without compromising yield. Half of the plant root system is slowly dehydrating whereas the other half is irrigated; after about two weeks the opposite side of vines is irrigated. A PRD irrigation system (50 % of the crop evapotranspiration - ETc) was installed in a vineyard (Vitis vinifera L. cv. Castelão) in Southern Portugal and compared with two other irrigation systems, deficit irrigation, DI (50 % ETc) and full irrigation, FI (100 % ETc), as well as with non-irrigated vines (NI). Water was applied twice a week, from fruit set (mid-June) until one week before harvest (September 3). While FI vines remained well watered during the ripening period, a severe water stress developed in NI plants. PRD and DI vines exhibited mild water deficits during the same period. A significant decrease in vegetative growth (shoot weight, pruning weight, leaf layer number and percentage of water shoots) was observed in NI and PRD vines when compared to DI and FI. In denser canopies (FI and DI) berry temperature was always lower than that of the more open ones (NI and PRD). The higher degree of cluster exposition in PRD and NI had a positive influence on berry composition due to temperature and incident radiation, leading to higher concentrations of anthocyanins and total phenols in the berry skin compared to DI and FI vines. Irrigation did not significantly affect berry sugar accumulation and pH in berries. Compared to FI, PRD and DI treatments water use efficiency (the amount of fruit produced per unit of water applied) was doubled since at the same yield the amount of water applied, was reduced by 50 %.

Parallax Motion Effect Generation Through Instance Segmentation And Depth Estimation

Stereo vision is a growing topic in computer vision due to the innumerable opportunities and applications this technology offers for the development of modern solutions, such as virtual and augmented reality applications. To enhance the user's experience in three-dimensional virtual environments, the motion parallax estimation is a promising technique to achieve this objective. In this paper, we propose an algorithm for generating parallax motion effects from a single image, taking advantage of state-of-the-art instance segmentation and depth estimation approaches. This work also presents a comparison against such algorithms to investigate the trade-off between efficiency and quality of the parallax motion effects, taking into consideration a multi-task learning network capable of estimating instance segmentation and depth estimation at once. Experimental results and visual quality assessment indicate that the PyD-Net network (depth estimation) combined with Mask R-CNN or FBNet networks (instance segmentation) can produce parallax motion effects with good visual quality.Comment: 2020 IEEE International Conference on Image Processing (ICIP), Abu Dhabi, United Arab Emirate