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1.
Psychol Health ; : 1-14, 2023 Apr 26.
Article in English | MEDLINE | ID: mdl-37101374

ABSTRACT

OBJECTIVE: This study aimed to examine whether self-efficacy to cope with cancer changes over time in patients with breast cancer and whether these potential changes are similar across patients. It also aimed to examine whether these trajectories are related to patient psychological well-being and overall quality of life. METHODS: Participants (N = 404) from four countries (i.e. Finland, Israel, Italy, and Portugal) were enrolled in the study few weeks after breast surgery or biopsy. Self-efficacy to cope with cancer was assessed at baseline, six and 12 months later. Well-being indices were assessed at baseline, 12 and 18 months later. RESULTS: Using Latent Class Growth Analysis, two groups of patients were identified. The majority of patients reported high levels of self-efficacy to cope, which increased over time. For almost 15% of the patients, however, self-efficacy declined over time. Diminishing levels of self-efficacy to cope predicted worse levels of well-being. The pattern of self-efficacy changes and their relationships to well-being was consistent across countries. CONCLUSION: Monitoring self-efficacy to cope with cancer is probably important in order to detect alarming changes in its levels, as a declining self-efficacy to cope may serve as a signal of the need for intervention to prevent adaptation difficulties.

2.
Psychol Health ; 38(12): 1635-1648, 2023.
Article in English | MEDLINE | ID: mdl-35147473

ABSTRACT

OBJECTIVE: The aim of this study was to examine the longitudinal impact of self-efficacy to cope with cancer on the cancer-related coping reactions of breast cancer patients and vice versa. DESIGN AND MAIN OUTCOMES MEASURES: Data from the BOUNCE Project (https://www.bounce-project.eu/) were used to address the hypotheses. Participants (N = 403) were enrolled in the study a few weeks after surgery or biopsy. Coping self-efficacy was assessed at baseline and six months later (M6). Cancer-related coping was assessed three (M3) and nine months (M9) after baseline. The analyses were performed using structural equation modeling with Mplus 8.6. RESULTS: Baseline coping self-efficacy predicted all M3 coping reactions, while M6 coping self-efficacy also predicted changes in all but one M9 coping reaction. Moreover, one of the M3 coping reactions, that is, hopelessness/helplessness, predicted the changes in M6 coping self-efficacy. The relation between coping self-efficacy and one coping reaction (i.e. cognitive avoidance) was rather weak. Stability paths from M3 to M9 coping reactions were moderate to high. CONCLUSION: The relationship between self-efficacy to cope with cancer and cancer-related coping is complex. New theoretical models are needed to more accurately describe the diverse aspects of this association.

3.
J Subst Abuse Treat ; 139: 108783, 2022 08.
Article in English | MEDLINE | ID: mdl-35562317

ABSTRACT

INTRODUCTION: Research defines recovery capital as the amount of tangible and intangible resources (e.g., human/personal, physical, social, and cultural) available to initiate and sustain recovery from substance use disorders (SUDs). An individual's amount of recovery capital is dynamic over time and influenced by a number of factors such as baseline amount at initiation of recovery/treatment, length of abstinence, access/availability of resources, and individual factors such as the decision to utilize available resources. Research has been proposed delay discounting (DD), which reflects an individual's relative preference for immediate versus delayed rewards, as a candidate behavioral marker for SUDs but has not yet examined it in the context of recovery capital, and DD may be an important aspect of human capital. Thus, the aim of the current study was to examine associations among recovery capital, DD, and length of abstinence. METHODS: The study included in its analysis data from 111 individuals in recovery from SUDs from the International Quit and Recovery Registry, an ongoing data collection program used to further scientific understanding of recovery. The study assessed recovery capital using the Assessment of Recovery Capital (ARC) and assessed discounting rates using an adjusting-delay task. The study team performed univariate linear regression to examine the relationship between total ARC score and demographic variables, length of abstinence, and DD. The research team performed a mediation analysis to understand the role of length of abstinence in mediating the relationship between DD and ARC score. RESULTS: Total ARC score was significantly negatively associated with DD and positively associated with length of abstinence, even after adjusting for covariates. Mediation analysis indicated that length of abstinence significantly partially mediated the relationship between DD and ARC score. CONCLUSION: These findings support the characterization of DD as an important aspect of human capital and a candidate behavioral marker for SUDs. Future research may wish to investigate whether interventions designed to increase the value of future rewards also increase recovery capital.


Subject(s)
Delay Discounting , Substance-Related Disorders , Humans , Longitudinal Studies , Phenotype , Reward
4.
J Elder Abuse Negl ; 34(2): 109-123, 2022.
Article in English | MEDLINE | ID: mdl-35135412

ABSTRACT

This study aimed to assess the prevalence of abuse against Portuguese older people after an economic crisis and to assess how it has influenced health. A cross-sectional study was carried out including 677 older adults (≥60 years) during 2017. Results show that overall, 23.9% of older people reported being a victim of abuse in the last 12 months. The prevalence of psychological abuse was 19.9%, financial abuse 5.8%, physical abuse 2.5% and sexual abuse 1.9%. Older people who report abuse were more likely to have perceived insufficient income and low social support. The abuse was also significantly associated with poor health status and depressive symptoms. Even in an auspicious period, more than a fifth of older people experiences abuse which is associated with social and health vulnerabilities. These results support that an investment should be made in terms of policies toward an age-friendly environment.


Subject(s)
Elder Abuse , Aged , Cross-Sectional Studies , Economic Recession , Humans , Portugal/epidemiology , Prevalence
5.
J Intellect Disabil Res ; 66(6): 568-575, 2022 06.
Article in English | MEDLINE | ID: mdl-35128743

ABSTRACT

BACKGROUND: The feasibility and reliability of the Functional Movement Screen (FMS) battery for predicting injury risk have been widely studied in athletic, military, public service and healthy populations. However, scant research has been carried out in people with disabilities. This study aimed at identifying the feasibility and reliability of the FMS battery when administered to adults with intellectual disability (ID). METHODS: Adults from a residential and day care centre over 18 years of age, diagnosed with ID and able to follow simple instructions, were included in the study. All participants with behavioural or health problems that prevented the completion of the FMS battery were excluded. All exercises were video recorded to assure proper scoring. Three assessors (one trained and two novices) scored each of the FMS subtests performed separately from the videos. Feasibility was based on completion rates. Reliability of the composite test scores was analysed using intraclass correlation coefficients (ICCs). RESULTS: A total of 30 people with ID (mean age: 35.5 ± 7.12 years; 33.3% women) completed all assessments. The battery showed to be feasible, although difficulties when performing two of the subtests were observed among those with moderate and severe ID. Mean total scores from the three assessors ranged from 7.83 to 8.90. An inverse trend was observed indicating that the higher the ID level, the lower the total FMS score. Test-retest reliability was good for the trained assessor (ICC = 0.89) and mostly moderate for both novice assessors (ICC range: 0.60 to 0.76). Moderate to good inter-rater reliability was observed (ICC range: 0.65 to 0.80). CONCLUSION: The FMS battery is a reliable tool that can be performed by people with ID, albeit with certain difficulties, especially in those with moderate to severe impairment. The battery does not seem to be useful for identifying people with ID at risk of suffering a sport injury. Adequately powered, well-designed studies are required to determine if the FMS battery is appropriate for identifying changes in functional performance in this population.


Subject(s)
Intellectual Disability , Adolescent , Adult , Exercise Test , Feasibility Studies , Female , Humans , Intellectual Disability/diagnosis , Male , Movement , Reproducibility of Results
6.
Rev Neurol (Paris) ; 178(3): 256-260, 2022 Mar.
Article in English | MEDLINE | ID: mdl-34253347

ABSTRACT

Neuromyelitis optica spectrum disorders (NMOSD) are immune-mediated inflammatory diseases of the central nervous system (CNS), which preferentially affect the optic nerves and the spinal cord. Anti-aquaporin 4 antibody is a specific serological marker. Systemic lupus erythematosus (SLE) is a rheumatologic disease that may affect the CNS. There are several reports about the coexistence of NMOSD and autoimmune diseases, mainly those of rheumatologic origin. We describe three different cases in which SLE and NMOSD subsequently occurred, drawing attention to the clinical heterogeneity, the challenge and the importance of recognizing this possible association.


Subject(s)
Lupus Erythematosus, Systemic , Neuromyelitis Optica , Aquaporin 4 , Autoantibodies , Humans , Lupus Erythematosus, Systemic/complications , Lupus Erythematosus, Systemic/diagnosis , Neuromyelitis Optica/complications , Neuromyelitis Optica/diagnosis , Universities
8.
Arq. bras. med. vet. zootec. (Online) ; 72(4): 1555-1560, July-Aug. 2020. ilus
Article in English | LILACS, VETINDEX | ID: biblio-1131472

ABSTRACT

Este trabalho descreve um surto de rumenite e abomasite decorrente de sobrecarga de carboidratos em um rebanho de 238 bezerros, com idades entre 12 e 15 meses, causada pela ingestão dos frutos de Enterolobium contortisiliquum. As taxas de morbidade, mortalidade e letalidade foram de, respectivamente, 12,7%, 5,2% e 42,1%. Clinicamente, os bovinos apresentaram fotossensibilização, salivação e diarreia. Os achados de necropsia foram semelhantes nos dois bezerros necropsiados e consistiram de fotodermatite e rumenite ulcerativa multifocal, subaguda a crônica, e abomasite. A relevância deste relato é que, pela primeira vez, foi possível associar a ocorrência da rumenite devido à sobrecarga de carboidratos com a intoxicação espontânea por E. contortisiliquum em bovinos, confirmando achados anteriormente descritos em experimentos realizados com ovinos.(AU)


Subject(s)
Animals , Cattle , Plant Poisoning/veterinary , Rumen/pathology , Acidosis/veterinary , Abomasum/pathology , Photosensitivity Disorders/veterinary , Plants, Toxic , Fabaceae/toxicity
9.
Arq. bras. med. vet. zootec. (Online) ; 72(4): 1386-1390, July-Aug. 2020. tab, ilus
Article in Portuguese | LILACS, VETINDEX | ID: biblio-1131498

ABSTRACT

A miopatia nutricional é uma doença degenerativa que pode afetar os músculos esqueléticos e cardíaco, causada pela deficiência dietética de selênio e/ou vitamina E. Objetivou-se relatar a ocorrência de miopatia nutricional em dois potros Puro Sangue Inglês, criados de forma extensiva, com baixa disponibilidade de forragem e sem suplementação mineral. De um lote de nove animais de diferentes idades (cinco éguas adultas, uma potra lactente de três meses,uma mula e dois potros de 16 e 17 meses), apenas os dois últimos foram afetados. Clinicamente, havia decúbito lateral ou esternal, taquicardia, taquipneia, desidratação e dor à palpação muscular na região dos glúteos.O diagnóstico presuntivo de miopatia nutricional foi realizado por meio da associação dos sinais clínicos aos dados epidemiológicos.O animal 1 foi eutanasiado cinco dias após o atendimento devido à piora gradativa do quadro, e o animal 2 recuperou-se com o tratamento adotado. O diagnóstico foi confirmado com base nos exames complementares, nos achados de necropsia e na dosagem da concentração hepática de selênio. Este relato de caso alerta para o risco da ocorrência de miopatia nutricional em equinos, sobretudo jovens, sem acesso a pastagens ou feno de boa qualidade e sem suplementação mineral adequada.(AU)


Nutritional myopathy is a degenerative disease caused by the dietary deficiency of selenium and/or vitamin E that can affect skeletal and cardiac muscles. The objective of this study was to report the occurrence of nutritional myopathy in two Thoroughbred young horses, raised in pastures with low forage availability and no mineral supplementation. From a herd of nine animals of different ages (five adult mares, one three-month-old nursing foal, one mule and two 16- and 17-month-old horses), only the last two were affected. Clinical signs were lateral or sternal recumbency, tachycardia, tachypnea, dehydration and muscle pain. Presumptive diagnosis of nutritional myopathy was made associating clinical signs and epidemiological data. Animal 1 was euthanized five days after the first evaluation due to clinical signs gets worse, and animal 2 recovered with the established treatment. Diagnosis was confirmed with complementary exams, necropsy findings and levels of hepatic selenium. This paper alerts to the risk of nutritional myopathy occurrence in horses, mainly young animals, which are not ingesting good quality hay or green forage and do not receive appropriate mineral supplementation.(AU)


Subject(s)
Animals , Selenium/deficiency , Vitamin E Deficiency/veterinary , Horses/growth & development , Muscular Diseases/veterinary
10.
Exp Appl Acarol ; 80(4): 509-520, 2020 Apr.
Article in English | MEDLINE | ID: mdl-32249392

ABSTRACT

The red palm mite, Raoiella indica Hirst (Tenuipalpidae), has mainly been registered on palm species (Arecaceae), and its expansion in Brazil has the potential to cause significant negative impact on cultivated as well as native palms. Here, we evaluate the potential of native palms from Northeast Brazil to act as hosts of R. indica. Specifically, we used in situ free-choice and confinement tests, in which sections of palm leaves/leaflets of various species were experimentally infested with R. indica. We tested the following species: Acrocomia aculeata, Acrocomia intumescens, Allagoptera caudescens, Attalea funifera, Attalea oleifera, Bactris acanthocarpa var. acanthocarpa, Bactris ferruginea, Bactris glassmanii, Bactris hirta var. spruceana, Bactris pickelii, Copernicia prunifera, Desmoncus orthacanthos, Desmoncus polyacanthos, Syagrus coronata and Syagrus schizophylla. All of these were compared with the mite's preferred host, the coconut palm, Cocos nucifera. In the free-choice test, both male and female R. indica preferred C. nucifera in comparison to each of the native palms. In the confinement test, we observed significant differences in the survivorship between mites on native palms and those on coconut palms after the second day of infestation. By the fifth day, survivorship of mites on the native palms was almost always significantly lower than on C. nucifera (excepting for C. prunifera). We conclude that, among all the native palms evaluated, only the carnauba palm (C. prunifera) is at risk from R. indica. This result is relevant as this palm is an economically important species in the region.


Subject(s)
Cocos/parasitology , Mites/pathogenicity , Plant Diseases/parasitology , Animals , Brazil , Cocos/classification , Female , Male
11.
Arq. bras. med. vet. zootec. (Online) ; 72(2): 312-316, Mar./Apr. 2020. ilus
Article in English | LILACS, VETINDEX | ID: biblio-1128168

ABSTRACT

Cercopithifilaria bainae is a nematode belonging to the family Onchocercidae that parasitizes the subcutaneous tissue of dogs. Its transmission occurs through the tick Rhipicephalus sanguineus and its geographical distribution overlaps that of this vector. The present study reports the detection of microfilaremia by C. bainae in an eight-year-old male dog that presented anorexia, hyperthermia, motor incoordination, mydriasis, a nodule in the left testicle and concomitant infection by Ehrlichia sp. Blood samples were analyzed using microscopy, PCR and DNA sequencing. Microfilariae measuring 150±5.5µm in length and 7±1.8µm in width were retrieved. The DNA sequence exhibited 98% identity with C. bainae sequences available in Genbank. This is the first report of microfilaremia by C. bainae in a dog in the central western region of Brazil.(AU)


Cercopithifilaria bainae é um nematoide pertencente à família Onchocercidae, que parasita o tecido subcutâneo de cães. Sua transmissão ocorre pelo carrapato Rhipicephalus sanguineus, e sua distribuição geográfica se sobrepõe ao espalhamento desse vetor. O presente estudo relata a detecção de microfilaremia por C. bainae em um cão macho de oito anos que apresentava anorexia, hipertermia, incoordenação motora, midríase e nódulo no testículo esquerdo e infecção concomitante por Ehrlichia sp. A coleta de sangue foi realizada, e o material analisado por meio dos exames de microscopia, PCR e sequenciamento de DNA. Microfilárias medindo 150±5,5µm de comprimento e 7±1,8µm de largura foram recuperadas. A sequência de DNA obtida mostrou 98% de identidade com sequências de C. bainae disponíveis no Genbank. Este é o primeiro relato de microfilaremia de C. bainae em um cão na região Centro-Oeste do Brasil.(AU)


Subject(s)
Animals , Male , Dogs , Onchocerca , Subcutaneous Tissue/parasitology , Microfilariae , Nematoda , Brazil , Base Sequence , Anorexia , Polymerase Chain Reaction , Sequence Analysis, DNA , Disease Transmission, Infectious
12.
Rehabilitacion (Madr) ; 54(1): 19-24, 2020.
Article in Spanish | MEDLINE | ID: mdl-32007178

ABSTRACT

INTRODUCTION: People with intellectual disabilities (ID) have balance disturbances and risk of falls, which are aggravated with ageing. This study aimed to provide information on the effects of an exercise programme on fall risk, balance, and walking speed in a group of older people with ID. MATERIALS AND METHODS: Eight people with mild to moderate ID (mean age: 56.37±7.08 years) participated in a 12-week programme based on a weekly session that included exercises aimed at strengthening stabilising muscles, stimulating proprioception, and enhancing reflexes in unstable situations. The effects of the programme on the risk of falling and on balance and walking speed were assessed using the Tinetti scale and the Timed Up and Go test, respectively. RESULTS: The programme was feasible and no adverse effects were registered. At the end of the programme, the risk of falls remained unchanged, while balance and gait speed improved significantly. CONCLUSIONS: A three-month weekly programme based on muscle strengthening and proprioceptive re-education exercises was feasible and had a positive impact on balance and walking speed in a group of older people with ID. These results lay the foundation for future randomised clinical trials aiming to confirm the effects of such programmes on the risk of falls in this population.


Subject(s)
Accidental Falls/prevention & control , Exercise , Intellectual Disability/complications , Postural Balance , Sensation Disorders/rehabilitation , Walking Speed , Aging , Female , Humans , Male , Middle Aged , Muscle Strength , Program Evaluation , Risk , Time Factors
14.
Disabil Rehabil ; 41(26): 3118-3140, 2019 12.
Article in English | MEDLINE | ID: mdl-30301367

ABSTRACT

Purpose: To systematically review the existing scientific evidence regarding the effects of physical exercise on the fitness level of people with intellectual disabilities.Methods: Following the checklist of the Preferred Reporting Items for Systematic review and Meta-Analysis Protocols, the PubMed, CINAHL, SPORTDiscus, and Scopus databases were searched using specific keywords up to January 2018. The methodological quality of the studies found was rated by the means of specific scales according to their specific design.Results: A total of 44 studies were selected. The majority of the included studies were randomized controlled trials (n = 17), followed by non-controlled studies (n = 11), non-randomized controlled trials (n = 10), and comparative studies (n = 6). Aerobic, strengthening, and combined exercise programs were the most frequently proposed interventions. Exercise showed to have significant effects on the cardiorespiratory and muscular fitness. Not all the selected studies reported improvements in parameters related to body composition.Conclusions: There is sufficient scientific evidence for the beneficial effects of exercise on the cardiovascular and muscular fitness of adults with mild/moderate ID. There is a need for more studies focused on the impact of physical exercise on the body composition of this population, and those that aim at identifying the impact of alternative interventions.IMPLICATIONS FOR REHABILITATIONThere is a need for basic guidelines that can help rehabilitation professionals to prescribe exercise for maintaining and improving physical fitness in the adults with intellectual disabilities.In adults with intellectual disabilities, aerobic exercise has beneficial effects on cardiovascular and muscular fitness, flexibility, and range of motion.No firm conclusion can be made regarding the effects of aerobic, muscular, and combined training programs on the body composition of adults with intellectual disabilities.Rehabilitation professionals should be aware that scientific evidence regarding the prescription of alternative exercise protocols in adults with intellectual disabilities (i.e. dancing, water-based exercise, animal therapy, etc) is scarce.


Subject(s)
Disabled Persons , Exercise , Intellectual Disability , Cardiorespiratory Fitness , Humans , Muscle Strength , Physical Endurance , Physical Fitness
16.
Arq. bras. med. vet. zootec. (Online) ; 69(6): 1456-1460, nov.-dez. 2017. ilus
Article in Portuguese | LILACS, VETINDEX | ID: biblio-910031

ABSTRACT

O objetivo deste trabalho foi demonstrar que o posicionamento radiográfico inadequado do membro pélvico de cães (imagens obliquadas) afeta a mensuração do ângulo do platô tibial (APT), levando à maior variação entre observadores. Foram realizadas duas projeções radiográficas nos membros pélvicos direito e esquerdo, uma em perfil verdadeiro e a outra com o membro obliquado em 21 cães provenientes do atendimento clínico cirúrgico do Hospital Veterinário da Universidade de Cuiabá, em Cuiabá-MT. Os critérios de inclusão foram cães livres de histórico ou afecção ortopédica nos membros pélvicos, pesando entre 15 e 40 quilos, sem predileção por raça ou sexo, entre dois e sete anos de idade. Foram obtidas 42 imagens radiográficas em perfil verdadeiro e 42 imagens radiográficas obliquadas. Três observadores com experiência em cálculo do APT fizeram as mensurações. Nos cálculos das imagens em perfil verdadeiro, o observador 1 obteve uma média de 23,35º ± 2,82; o observador 2, média de 23,88º ± 4,83; e o observador 3, média de 24,54º ± 4,01, não sendo encontrada diferença significativa entre o cálculo dos três avaliadores, P=0,944 (P > 0,05), nas imagens em perfil verdadeiro. Nos cálculos das imagens obliquadas, o observador 1 obteve uma média de 21,69º ± 4,22; o observador 2, média de 19,42º ± 5,92; e o observador 3, média de 22,64º ± 5,23, e foi encontrada diferença significativa entre o cálculo dos três observadores, P=0,016 (P < 0,05). Com esses dados, pôde-se demonstrar que a imagem radiográfica obliquada compromete o valor final do cálculo do ângulo do platô tibial em cães, levando à variação numérica estatisticamente significativa entre observadores. Conclui-se, assim, que um posicionamento correto do membro pélvico, em perfil verdadeiro, deve ser sempre utilizado para a obtenção de imagens, com o objetivo de mensurar o valor do APT.(AU)


This work aimed at demonstrating that an inadequate radiographic position of pelvic limbs of dogs, from a strict lateral radiographic view, resulted in oblique images, affecting the measurement of the tibial plateau angle (TPA). There were two radiographic projections of the right and the left pelvic limb, one in strict lateral radiographic view and another with inclined hind limb in 21 dogs from the clinical surgical assistance at Hospital Veterinário of Universidade de Cuiabá in Cuiabá-MT. Inclusion criteria were dogs free from pelvic hind limbs orthopedic affection records, weighing between 15 and 40 kilos, without a preference for breed or gender and ageing between two and seven years old. A total of 42 radiographic images in strict lateral radiographic view and 42 inclined limb radiographic views were obtained. Three observers with TPA calculation experience made measurements. In the calculus for the strict lateral radiographic view the first observer has reached an average of 23,35º ± 2,82, the second observer 23,88º ± 4,83 and the third observer 24,54º ± 4,01. No significant statistic differences among the calculus of the three evaluators p=0,944 (P>0,05) was found. In the calculus of the inclined limbs radiographic views the first observer reached an average of 21,69º ± 4,22, the second observer 19,42º ± 5,92 and the third observer 22,64º ±. 5,23. Significant statistic difference in the calculus of the three observers, p=0,016, that is to say, P<0,05 was found. The data indicated that the inclined limb radiographic image compromises the final value of the calculation of tibial plateau angle in dogs. Thus, correct positioning of the pelvic limb, in a strict lateral radiographic view, must be always used for obtaining images aiming at measuring the value of TPA.(AU)


Subject(s)
Animals , Dogs , Ligaments, Articular/diagnostic imaging , Patient Positioning/veterinary , Pelvis/diagnostic imaging , Tibia/anatomy & histology , Anterior Cruciate Ligament Injuries/veterinary , Osteotomy/veterinary
17.
Braz J Biol ; 77(4): 87-90, 2017 Nov.
Article in English | MEDLINE | ID: mdl-28658387

ABSTRACT

The freshwater cnidarian Craspedacusta sowerbii Lankester 1880, has invaded lakes and ponds as well as artificial water bodies throughout the world. The first record in Uruguay corresponding to the jellyfish was made in 1961 in two artificial fountains, with no mention of the polyp form. Although local reports of other related polyp species have been made, information on the benthic form of C. sowerbii is lacking. Here we report the finding of live frustules, solitary individuals, medusae and colonies from a natural lagoon in August 2010, allowing us to observe the morphology and behavior of the polyp stage in captivity. In addition, molecular identification and remarks on the potencial path of introduction are presented. This is the first record in Uruguay of both polyp and medusa stages of C. sowerbii in a natural water body, Del Medio Lagoon (Dpto. de Florida), Uruguay.


Subject(s)
Animal Distribution , Hydrozoa/physiology , Life Cycle Stages , Animals , Hydrozoa/growth & development , Introduced Species , Uruguay
18.
J Mol Neurosci ; 62(3-4): 276-280, 2017 Aug.
Article in English | MEDLINE | ID: mdl-28578517

ABSTRACT

Primary familial brain calcification (PFBC), formerly known as Fahr disease, is a rare neurological disorder characterized by extensive calcification deposits in the brain. So far, four genes have been reported with variations associated with PFBC, SLC20A2, PDGFß, PDGFRß, and XPR1. Using real-time qPCR, we analyzed the expression of three inorganic phosphate (Pi) transporters (SLC20A1, SLC20A2, and XPR1) in patients with PFBC. Our results showed a significant reduction (~40%) of SLC20A2 expression in the patients carrying mutation whereas no significant change was observed within the patients without known mutations. No difference was detected in SLC20A1 and XPR1 expression between the groups compared to control. The results suggest that mutations in SLC20A2 gene by itself play an import role by reducing its expression in blood of PFBC patients. At the same time, we could not demonstrate a direct co-regulation between the three Pi transporters at mRNA level, once their expression did not change among the groups.


Subject(s)
Brain Diseases/genetics , Calcinosis/genetics , Sodium-Phosphate Cotransporter Proteins, Type III/genetics , Adult , Aged , Brain Diseases/pathology , Calcinosis/pathology , Female , Humans , Male , Middle Aged , Mutation , Pedigree , Receptors, G-Protein-Coupled/genetics , Receptors, G-Protein-Coupled/metabolism , Receptors, Virus/genetics , Receptors, Virus/metabolism , Sodium-Phosphate Cotransporter Proteins, Type III/blood , Sodium-Phosphate Cotransporter Proteins, Type III/metabolism , Xenotropic and Polytropic Retrovirus Receptor
19.
Int J Dev Disabil ; 65(4): 231-238, 2017 Dec 18.
Article in English | MEDLINE | ID: mdl-34141343

ABSTRACT

Objectives: The main objective was to identify the test-retest reliability of the Wii Balance Board (WBB) for assessing standing balance when administered to a population of people with intellectual disability (ID). A secondary objective was to provide information regarding the reliability of the WBB, taking into account the severity of cognitive impairment. Methods: The WBB was administered two times to a group of 50 people (mean age: 20.44 ± 5.73 years) with mild (n=32), moderate (n=6), or severe ID (n=12) within a 15-day period. The relative reliability of the WBB for the 'standing balance with open eyes' test was analyzed by means of intraclass correlation coefficients (ICCs). The standard error measurement and the minimum detectable change were used to identify absolute reliability. Results: For the whole sample, the WBB showed a fair (ICC=0.71), poor (ICC=0.66), and excellent (ICC=0.99) relative reliability for assessing weight-bearing asymmetry, center of pressure, path length, and sway area, respectively. In people with moderate/severe ID, statistically significant differences between the WBB test and retest scores were found. The absolute reliability of the WBB was considered poor. Conclusion: The WBB showed accurate adequate test-retest reliability for assessing standing balance in young people with ID. When using this device with people with moderate/severe ID, it is advisable to perform several testing trials, in order to avoid a possible learning effect. Standard error of measurement and minimal detectable change were high, indicating that this device might not be sensitive enough to properly identify static balance changes in this population.

20.
Disabil Health J ; 10(1): 105-113, 2017 01.
Article in English | MEDLINE | ID: mdl-27622675

ABSTRACT

BACKGROUND: There is limited evidence about the psychometric properties of field tests to measure cardiorespiratory fitness in people with Down syndrome. OBJECTIVE: This study aimed at analyzing the reliability and convergent validity of the 6-min run test when performed by young adults with Down syndrome (DS). METHODS: In a cross-sectional design fifty-one young adults with DS (mean age 26.20 ± 7.14 years; 54% women) performed the 6-min run test and the 16-min shuttle run test twice with a one week-interval between test and retest. RESULTS: The 6-min run test offered high reliability for the distances covered (ICC: 0.974; 95% CI: 0.955-0.985) and good reliability when comparing peak heart rate values obtained in the test and retest (ICC: 0.870; 95% CI: 0.772-0.926). A significant correlation between the 6-min run test and the 16-min shuttle run test was observed for the test (r = 0.705; Sig = 0.001), and retest phases (r = 0.651; Sig = 0.001). The relationship between the estimated maximal oxygen consumption (VO2 max) peak after the performance of the 16-min shuttle run test and the distance covered by the 6-min run test was statistically significant (r > 0.7). No significant differences were found between the equations that estimate VO2 peak for both tests. CONCLUSIONS: These findings suggest that the 6-min run test shows high test/retest reliability and moderate to moderately high convergent validity when performed by adults with DS.


Subject(s)
Disabled Persons , Down Syndrome/physiopathology , Exercise Test , Physical Endurance/physiology , Physical Exertion/physiology , Physical Fitness , Running/physiology , Adult , Cross-Sectional Studies , Female , Heart Rate , Humans , Male , Oxygen Consumption , Reproducibility of Results , Young Adult
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