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1.
J Intellect Disabil ; 27(4): 1107-1134, 2023 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-35850628

RESUMEN

People with severe/profound intellectual disability experience challenges in communicating and require their communication partners to adapt to their means of communication. Augmentative and Alternative Communication (AAC) is recognised as a potential means to meet their communication needs. Interventions need to be aimed at both the individual and their communication partners. We conducted a mixed methods systematic review of the literature to synthesise evidence on communication partners experience of communicating with adults with severe/profound intellectual disability through AAC. Eight publications met the inclusion criteria, they underwent thematic synthesis where four themes emerged. A shared commitment to communication partnership is fundamental for the effective and efficient use of AAC. However, there was a disconnect between communication partners perceptions of their roles and responsibilities. This review prompts further research to explore communication partners perceptions of their roles and responsibilities in the use of AAC with people with severe/profound intellectual disabilities.


Asunto(s)
Equipos de Comunicación para Personas con Discapacidad , Trastornos de la Comunicación , Discapacidad Intelectual , Humanos , Adulto , Comunicación
2.
J Med Virol ; 94(1): 161-172, 2022 01.
Artículo en Inglés | MEDLINE | ID: mdl-34415583

RESUMEN

Detailed information on intrahost viral evolution in SARS-CoV-2 with and without treatment is limited. Sequential viral loads and deep sequencing of SARS-CoV-2 from the upper respiratory tract of nine hospitalized children, three of whom were treated with remdesivir, revealed that remdesivir treatment suppressed viral load in one patient but not in a second infected with an identical strain without any evidence of drug resistance found. Reduced levels of subgenomic RNA during treatment of the second patient, suggest an additional effect of remdesivir on viral replication. Haplotype reconstruction uncovered persistent SARS-CoV-2 variant genotypes in four patients. These likely arose from within-host evolution, although superinfection cannot be excluded in one case. Although our dataset is small, observed sample-to-sample heterogeneity in variant frequencies across four of nine patients suggests the presence of discrete viral populations in the lung with incomplete population sampling in diagnostic swabs. Such compartmentalization could compromise the penetration of remdesivir into the lung, limiting the drugs in vivo efficacy, as has been observed in other lung infections.


Asunto(s)
Adenosina Monofosfato/análogos & derivados , Alanina/análogos & derivados , Antivirales/uso terapéutico , Tratamiento Farmacológico de COVID-19 , COVID-19/virología , Evolución Molecular , SARS-CoV-2/genética , Adenosina Monofosfato/uso terapéutico , Adolescente , Alanina/uso terapéutico , Niño , Preescolar , Farmacorresistencia Viral , Femenino , Haplotipos , Humanos , Lactante , Pulmón/virología , Masculino , Filogenia , ARN Viral/análisis , ARN Viral/genética , SARS-CoV-2/aislamiento & purificación , SARS-CoV-2/fisiología , Carga Viral , Replicación Viral/efectos de los fármacos
3.
Int J Med Sci ; 16(9): 1207-1214, 2019.
Artículo en Inglés | MEDLINE | ID: mdl-31588185

RESUMEN

Aims: To determine the extent of DNA methylation of parvalbumin gene (PVALB) promoter in major depressive disorder (MDD) patients with and without suicide attempt in comparison with healthy controls. Methods: The extracted DNA from dried blood spots of MDD patients (n = 92) including non-suicidal MDD and suicidal-MDD subgroups (n = 45 and n = 47, respectively) and age-matched control subjects (n = 95) was used for DNA methylation analysis at four CpG sites in the promoter sequence of PVALB by pyrosequencing. Results: The PVALB methylation was significantly increased at CpG2 and decreased at CpG4 in the MDD group compared to the control group, while there was no difference between non-suicidal MDD and suicidal-MDD subgroups. A significant inverse correlation of severity of MDD was indicated only for CpG4. Conclusion: This study provides the first evidence of abnormalities of PVALB promoter methylation in MDD and its correlation with MDD severity indicating a role for epigenetics in this psychiatric disorder.


Asunto(s)
Metilación de ADN , Trastorno Depresivo Mayor/genética , Parvalbúminas/genética , Regiones Promotoras Genéticas , Adolescente , Adulto , Anciano , Estudios de Casos y Controles , Trastorno Depresivo Mayor/psicología , Epigénesis Genética , Femenino , Humanos , Elementos de Nucleótido Esparcido Largo , Masculino , Persona de Mediana Edad , Intento de Suicidio , Adulto Joven
4.
Appetite ; 128: 87-94, 2018 09 01.
Artículo en Inglés | MEDLINE | ID: mdl-29807126

RESUMEN

There is a clear need to improve understanding of the effects of physical activity and exercise on appetite control. Therefore, the acute and short-term effects (three days) of a single bout of cycling on energy intake and energy expenditure were examined in women not using hormonal contraceptives. Sixteen active (n = 8) and inactive (n = 8) healthy pre-menopausal women completed a randomised crossover design study with two conditions (exercise and control). The exercise day involved cycling for 1 h (50% of maximum oxygen uptake) and resting for 2 h, whilst the control day comprised 3 h of rest. On each experimental day participants arrived at the laboratory fasted, consumed a standardised breakfast and an ad libitum pasta lunch. Food diaries and combined heart rate-accelerometer monitors were used to assess free-living food intake and energy expenditure, respectively, over the subsequent three days. There were no main effects or condition (exercise vs control) by group (active vs inactive) interaction for absolute energy intake (P > 0.05) at the ad libitum laboratory lunch meal, but there was a condition effect for relative energy intake (P = 0.004, ηp2 = 0.46) that was lower in the exercise condition (1417 ±â€¯926 kJ vs. 2120 ±â€¯923 kJ). Furthermore, post-breakfast satiety was higher in the active than in the inactive group (P = 0.005, ηp2 = 0.44). There were no main effects or interactions (P > 0.05) for mean daily energy intake, but both active and inactive groups consumed less energy from protein (14 ±â€¯3% vs. 16 ±â€¯4%, P = 0.016, ηp2 = 0.37) and more from carbohydrate (53 ±â€¯5% vs. 49 ±â€¯7%, P = 0.031, ηp2 = 0.31) following the exercise condition. This study suggests that an acute bout of cycling does not induce compensatory responses in active and inactive women not using hormonal contraceptives, while the stronger satiety response to the standardised breakfast meal in active individuals adds to the growing literature that physical activity helps improve the sensitivity of short-term appetite control.


Asunto(s)
Regulación del Apetito/fisiología , Ciclismo/fisiología , Ingestión de Alimentos , Metabolismo Energético , Respuesta de Saciedad/fisiología , Acelerometría , Adulto , Estudios Cruzados , Registros de Dieta , Ingestión de Energía , Ayuno/fisiología , Femenino , Voluntarios Sanos , Humanos , Comidas , Consumo de Oxígeno , Periodo Posprandial , Premenopausia , Descanso/fisiología , Adulto Joven
5.
Biochemistry ; 55(34): 4737-41, 2016 08 30.
Artículo en Inglés | MEDLINE | ID: mdl-27517125

RESUMEN

The Parkinson's disease-associated protein α-synuclein exhibits significant conformational heterogeneity. Bacterially expressed α-synuclein is known to bind to copper, resulting in the formation of aggregation-prone compact conformations. However, in vivo, α-synuclein undergoes acetylation at its N-terminus. Here the effect of this modification and the pathological H50Q mutation on copper binding and subsequent conformational transitions were investigated by electrospray ionization-ion mobility spectrometry-mass spectrometry. We demonstrate that acetylation perturbs the ability of α-synuclein to bind copper and that the H50Q missense mutation in the presence of N-terminal acetylation prevents copper binding. These modifications and mutations prevent the formation of the most compact conformations and inhibit copper-induced aggregation.


Asunto(s)
Cobre/metabolismo , alfa-Sinucleína/química , alfa-Sinucleína/genética , Acetilación , Humanos , Mutación Missense , Enfermedad de Parkinson/genética , Enfermedad de Parkinson/metabolismo , Agregado de Proteínas/genética , Agregación Patológica de Proteínas/genética , Agregación Patológica de Proteínas/metabolismo , Unión Proteica , Conformación Proteica , Proteínas Recombinantes/química , Proteínas Recombinantes/genética , Proteínas Recombinantes/metabolismo , Espectrometría de Masa por Ionización de Electrospray , alfa-Sinucleína/metabolismo
6.
Biochem J ; 468(3): 485-93, 2015 Jun 15.
Artículo en Inglés | MEDLINE | ID: mdl-25851527

RESUMEN

Misfolding and aggregation of α-synuclein (α-syn) into Lewy bodies is associated with a range of neurological disorders, including Parkinson's disease (PD). The cell-to-cell transmission of α-syn pathology has been linked to soluble amyloid oligomer populations that precede Lewy body formation. Oligomers produced in vitro under certain conditions have been demonstrated to induce intracellular aggregation in cell culture models. In the present study, we characterize, by ESI-ion mobility spectrometry (IMS)-MS, a specific population of α-syn oligomers. These MS-compatible oligomers were compared with oligomers with known seeding and pore-forming capabilities and were shown to have the ability to induce intracellular aggregation. Each oligomer type was shown to have distinct epitope profiles that correlated with their toxic gain-of-function. Structurally, the MS compatible oligomers populated a range of species from dimers through to hexamers. Lower-order oligomers were structurally diverse and consistent with unstructured assemblies. Higher-order oligomers were shown to be compact with ring-like structures. The observation of this compact state may explain how this natively disordered protein is able to transfer pathology from cell to cell and avoid degradation by cellular proteases.


Asunto(s)
Proteínas Intrínsecamente Desordenadas/metabolismo , Modelos Moleculares , Neuronas/metabolismo , Agregación Patológica de Proteínas/metabolismo , alfa-Sinucleína/metabolismo , Señalización del Calcio , Línea Celular Tumoral , Supervivencia Celular , Biología Computacional/métodos , Sistemas Especialistas , Humanos , Proteínas Intrínsecamente Desordenadas/química , Proteínas Intrínsecamente Desordenadas/genética , Peso Molecular , Neuronas/patología , Agregación Patológica de Proteínas/patología , Conformación Proteica , Proteínas Recombinantes/química , Proteínas Recombinantes/metabolismo , Espectrometría de Masa por Ionización de Electrospray , Espectrometría de Masas en Tándem , alfa-Sinucleína/química , alfa-Sinucleína/genética
7.
Br J Haematol ; 190(5): e274-e276, 2020 09.
Artículo en Inglés | MEDLINE | ID: mdl-32652563
8.
J Cell Sci ; 126(Pt 13): 2955-64, 2013 Jul 01.
Artículo en Inglés | MEDLINE | ID: mdl-23659999

RESUMEN

A fundamental rule of cell division is that daughter cells inherit half the DNA complement and an appropriate proportion of cellular organelles. The highly asymmetric cell divisions of female meiosis present a different challenge because one of the daughters, the polar body, is destined to degenerate, putting at risk essential maternally inherited organelles such as mitochondria. We have therefore investigated mitochondrial inheritance during the meiotic divisions of the mouse oocyte. We find that mitochondria are aggregated around the spindle by a dynein-mediated mechanism during meiosis I, and migrate together with the spindle towards the oocyte cortex. However, at cell division they are not equally segregated and move instead towards the oocyte-directed spindle pole and are excluded from the polar body. We show that this asymmetrical inheritance in favour of the oocyte is not caused by bias in the spindle itself but is dependent on an intact actin cytoskeleton, spindle-cortex proximity, and cell cycle progression. Thus, oocyte-biased inheritance of mitochondria is a variation on rules that normally govern organelle segregation at cell division, and ensures that essential maternally inherited mitochondria are retained to provide ATP for early mammalian development.


Asunto(s)
División Celular Asimétrica/genética , Genes Mitocondriales , Mitocondrias/genética , Dinámicas Mitocondriales/genética , Oocitos/metabolismo , Citoesqueleto de Actina/genética , Citoesqueleto de Actina/metabolismo , Animales , Polaridad Celular , Femenino , Meiosis/genética , Ratones , Mitocondrias/metabolismo , Mitocondrias/ultraestructura , Oocitos/citología , Huso Acromático/genética , Huso Acromático/metabolismo , Imagen de Lapso de Tiempo
9.
Appetite ; 89: 183-91, 2015 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-25683796

RESUMEN

UNLABELLED: This study examined the effects of an acute bout of exercise of low-intensity on food intake and energy expenditure over four days in women taking oral contraceptives. Twenty healthy, active (n = 10) and inactive (n = 10) pre-menopausal women taking oral contraceptives completed two conditions (exercise and control), in a randomised, crossover fashion. The exercise experimental day involved cycling for one hour at an intensity equivalent to 50% of maximum oxygen uptake and two hours of rest. The control condition comprised three hours of rest. Participants arrived at the laboratory fasted overnight; breakfast was standardised and an ad libitum pasta lunch was consumed on each experimental day. Participants kept a food diary to measure food intake and wore an Actiheart to measure energy expenditure for the remainder of the experimental days and over the subsequent 3 days. There was a condition effect for absolute energy intake (exercise vs. CONTROL: 3363 ± 668 kJ vs. 3035 ± 752 kJ; p = 0.033, d = 0.49) and relative energy intake (exercise vs. CONTROL: 2019 ± 746 kJ vs. 2710 ± 712 kJ; p <0.001, d = -1.00) at the ad libitum lunch. There were no significant differences in energy intake over the four days in active participants and there was a suppression of energy intake on the first day after the exercise experimental day compared with the same day of the control condition in inactive participants (mean difference = -1974 kJ; 95% CI -1048 to -2900 kJ, p = 0.002, d = -0.89). There was a group effect (p = 0.001, d = 1.63) for free-living energy expenditure, indicating that active participants expended more energy than inactive participants during this period. However, there were no compensatory changes in daily physical activity energy expenditure. These results support the use of low-intensity aerobic exercise as a method to induce a short-term negative energy balance in inactive women taking oral contraceptives.


Asunto(s)
Apetito , Anticonceptivos Orales , Ingestión de Alimentos , Ingestión de Energía , Metabolismo Energético , Ejercicio Físico/fisiología , Descanso/fisiología , Actigrafía , Adulto , Registros de Dieta , Ayuno , Femenino , Humanos , Comidas , Esfuerzo Físico , Premenopausia , Conducta Sedentaria , Adulto Joven
10.
J Cell Physiol ; 229(3): 353-61, 2014 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-24002908

RESUMEN

Mitochondria provide the primary source of ATP in the oocyte and early embryo and mitochondrial dysfunction and deficit of mitochondria-derived ATP has been linked to suboptimal developmental competence. We have undertaken a study of ATP in the maturing mouse oocyte using a novel recombinant FRET based probe, AT1.03. We show that AT1.03 can be successfully used to monitor cytosolic ATP levels in single live oocytes over extended time periods. We find that ATP levels undergo dynamic changes associated with specific maturational events and that oocytes display altered rates of ATP consumption at different stages of maturation. Cumulus enclosed oocytes have a higher ATP level during maturation than denuded oocytes and this can be abolished by inhibition of gap junctional communication between the oocyte and cumulus cells. Our work uses a new approach to shed light on regulation of ATP levels and ATP consumption during oocyte maturation.


Asunto(s)
Adenosina Trifosfato/metabolismo , Comunicación Celular , Células del Cúmulo/metabolismo , Metabolismo Energético , Técnicas de Maduración In Vitro de los Oocitos , Oocitos/metabolismo , Animales , Técnicas Biosensibles , Células Cultivadas , Técnicas de Cocultivo , Femenino , Fertilización In Vitro , Transferencia Resonante de Energía de Fluorescencia , Uniones Comunicantes/metabolismo , Ratones , Factores de Tiempo , Imagen de Lapso de Tiempo
11.
Int J Neuropsychopharmacol ; 17(4): 645-9, 2014 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-24331356

RESUMEN

Individual variability and inadequate response of negative symptoms are major limitations of antipsychotic treatment in schizophrenia. A functional polymorphism, rs6295, in the 5-HT1A-receptor gene (HTR1A) contributes to this variability in negative symptom response. The DNA sequence containing rs6295 is rich in cytosine methylation (CpG) sites; CpG methylation is an epigenetic factor that, like rs6295, can modify transcriptional control. To investigate whether DNA methylation influences response to antipsychotic treatment, we determined methylation at CpG sites close to rs6295 in DNA from 82 Chinese subjects with a first psychotic episode. Methylation of one CpG site within a recognition sequence for HES transcriptional repressors was found to correlate with changes in total PANSS score (p = 0.006) and negative factor sub-score (p < 0.001) following 10 wk initial antipsychotic treatment, as well as with baseline negative factor score (p = 0.019); the effect on symptom change remained after correction for this baseline score. An effect of rs6295 on negative symptom response was not seen in this sample, which may not have provided sufficient power for the pharmacogenetic association. These preliminary results indicate that epigenetic modification of transcriptional regulation by specific cytosine methylation may modulate HTR1A expression, resulting in effects on emotional dysfunction and negative symptom response to antipsychotic treatment.


Asunto(s)
Antipsicóticos/farmacología , Metilación de ADN/genética , Receptor de Serotonina 5-HT1A/genética , Esquizofrenia , Adulto , Antipsicóticos/administración & dosificación , Sitios de Unión/genética , China , Femenino , Genotipo , Humanos , Masculino , Escalas de Valoración Psiquiátrica , Esquizofrenia/tratamiento farmacológico , Esquizofrenia/genética , Esquizofrenia/metabolismo , Esquizofrenia/fisiopatología , Factores de Transcripción/metabolismo , Resultado del Tratamiento , Adulto Joven
12.
Int J Neuropsychopharmacol ; 17(3): 485-90, 2014 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-24229535

RESUMEN

Genetic variants of the methylenetetrahydrofolate reductase (MTHFR) gene involved in homocysteine metabolism may be important predictors of antipsychotic drug-induced weight gain (AIWG). We tested whether two functional MTHFR polymorphisms are related to AIWG. Weight gain was studied in two cohorts of first-episode, initially drug-naive schizophrenia patients; Chinese Han (n = 182) and Spanish Caucasians (n = 72) receiving antipsychotics for 10 wk and 3 months respectively. Blood DNA was genotyped for 677C/T and 1298A/C MTHFR polymorphisms. Patients with the 677 CC genotype had a significantly greater increase in BMI compared to T-allele carriers in both Chinese (p = 0.012) and Spanish (p = 0.017) samples. The 677C/T MTHFR polymorphism showed an additive effect, but no significant interaction, with the -759C/T HTR2C polymorphism previously associated with AIWG. These results suggest that the 677C/T MTHFR polymorphism might, along with the -759C/T HTR2C polymorphism and other genetic factors, provide a useful marker for the important and limiting side effect of AIWG.


Asunto(s)
Antipsicóticos/farmacología , Metilenotetrahidrofolato Reductasa (NADPH2)/genética , Polimorfismo de Nucleótido Simple/genética , Aumento de Peso/efectos de los fármacos , Aumento de Peso/genética , Adolescente , Adulto , Antipsicóticos/uso terapéutico , Índice de Masa Corporal , China , Estudios de Cohortes , Análisis Mutacional de ADN , Epistasis Genética , Femenino , Estudios de Asociación Genética , Genotipo , Humanos , Masculino , Esquizofrenia/tratamiento farmacológico , Esquizofrenia/genética , España , Adulto Joven
13.
Br J Clin Pharmacol ; 77(4): 654-72, 2014 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-24354796

RESUMEN

The treatment of severe mental illness, and of psychiatric disorders in general, is limited in its efficacy and tolerability. There appear to be substantial interindividual differences in response to psychiatric drug treatments that are generally far greater than the differences between individual drugs; likewise, the occurrence of adverse effects also varies profoundly between individuals. These differences are thought to reflect, at least in part, genetic variability. The action of psychiatric drugs primarily involves effects on synaptic neurotransmission; the genes for neurotransmitter receptors and transporters have provided strong candidates in pharmacogenetic research in psychiatry. This paper reviews some aspects of the pharmacogenetics of neurotransmitter receptors and transporters in the treatment of psychiatric disorders. A focus on serotonin, catecholamines and amino acid transmitter systems reflects the direction of research efforts, while relevant results from some genome-wide association studies are also presented. There are many inconsistencies, particularly between candidate gene and genome-wide association studies. However, some consistency is seen in candidate gene studies supporting established pharmacological mechanisms of antipsychotic and antidepressant response with associations of functional genetic polymorphisms in, respectively, the dopamine D2 receptor and serotonin transporter and receptors. More recently identified effects of genes related to amino acid neurotransmission on the outcome of treatment of schizophrenia, bipolar illness or depression reflect the growing understanding of the roles of glutamate and γ-aminobutyric acid dysfunction in severe mental illness. A complete understanding of psychiatric pharmacogenomics will also need to take into account epigenetic factors, such as DNA methylation, that influence individual responses to drugs.


Asunto(s)
Trastornos Mentales/genética , Proteínas de Transporte de Neurotransmisores/genética , Farmacogenética , Receptores de Neurotransmisores/genética , Epigenómica , Interacción Gen-Ambiente , Estudios de Asociación Genética , Estudio de Asociación del Genoma Completo , Humanos , Trastornos Mentales/tratamiento farmacológico , Polimorfismo Genético/genética , Psicotrópicos/uso terapéutico
14.
Disabil Rehabil Assist Technol ; : 1-17, 2024 Feb 07.
Artículo en Inglés | MEDLINE | ID: mdl-38323877

RESUMEN

PURPOSE: To present a synthesis of evidence related to the factors influencing communication partners' use of augmentative and alternative communication with persons with severe/profound intellectual disability. MATERIALS AND METHODS: An integrative review guided by five steps; problem identification, literature search, data evaluation, data analysis and presentation was undertaken. In accordance with the Preferred Reporting Items for Systematic Reviews and Meta-Analyses statement, nine databases were searched, 1,342 studies were screened against the eligibility criteria, and 15 studies underwent thematic analysis. RESULTS: Two themes emerged; (1) Achieving Meaningful Communication and (2) Communication Partners' Preparedness to Use Augmentative and Alternative Communication. Achieving meaningful communication was central to communication partners' use of augmentative and alternative communication and was two-fold. It involved identifying the persons' communication methods and encouraging them to communicate. Communication partners' preparedness also influenced their use of augmentative and alternative communication. This preparedness was impacted by communication partners' preconceived thoughts about and knowledge of augmentative and alternative communication, nurturing their belief in augmentative and alternative communication, and the interpersonal dynamic between network members. CONCLUSION: Communication partners' use of augmentative and alternative communication is influenced by multiple and complex factors. The findings contribute to the knowledge of the potential factors to be considered to prepare communication partners to use augmentative and alternative communication.


Multiple, complex factors influence communication partners of persons with severe/profound intellectual disability use of augmentative and alternative communication (AAC), which include communication partners' beliefs, attitudes, expectations, knowledge and resources such as training, support and time.To offer individuals with severe/profound intellectual disability opportunities to communicate, communication partners need to recognise their attempts and thus, their ability. Continuously being sensitive to the individuals' communication methods, whilst being cognisant that these methods can change may enhance communication partners' awareness and understanding of the individuals' communication attempts.Communication partners' need to feel prepared to use AAC. To feel prepared, they need to be aware of the potential benefits that AAC can offer the interaction and the long-term outcomes, develop their knowledge, and be surrounded by a supportive team dynamic.

15.
Physiotherapy ; 124: 75-84, 2024 Feb 01.
Artículo en Inglés | MEDLINE | ID: mdl-38875840

RESUMEN

OBJECTIVES: To determine the knowledge, attitudes, and current practice of primary care physiotherapists in recognising and managing clients with metabolic syndrome. DESIGN: Mixed-methods research design comprising an online survey and focus groups. PARTICIPANTS: Australian and English physiotherapists (n = 183) working in a primary care setting responded to the survey. Twelve physiotherapists participated in focus groups. RESULTS: Metabolic syndrome was not on physiotherapists radar. They did not screen for metabolic syndrome nor provide management for it in primary care. Although most physiotherapists had some awareness of metabolic syndrome, they were not knowledgeable. Physiotherapists reported a need to focus on their clients' presenting condition, and there was uncertainty on whether metabolic syndrome management was within their scope of practice. Despite this, physiotherapists felt they had an important role to play in exercise and physical activity prescription for chronic disease management and were keen to further their knowledge and skills related to metabolic syndrome. Survey responses and focus group data were convergent. CONCLUSION: Physiotherapists working in primary care settings are well-placed to identify metabolic risk factors in their clients and provide physical activity interventions to enhance management but currently lack knowledge to embed this in clinical practice. Training and resources are required to enable physiotherapists to identify and manage metabolic syndrome within their practice. CONTRIBUTION OF PAPER.

16.
Physiotherapy ; 124: 116-125, 2024 Mar 30.
Artículo en Inglés | MEDLINE | ID: mdl-38878590

RESUMEN

OBJECTIVES: To determine the prevalence of metabolic syndrome in clients presenting for primary care physiotherapy within private practice settings, and the factors that may be associated with metabolic syndrome. The secondary aim was to determine client's attitudes towards lifestyle change. DESIGN: A cross-sectional study in which self-report and biometric data were collected. The study was conducted in physiotherapy private practices across metropolitan and regional areas, Australia. PARTICIPANTS: 230 clients (mean age 54 (SD18) years, 64% women) presenting for physiotherapy participated. MAIN OUTCOME MEASURES: Participant socio-demographic and lifestyle characteristics were collected. Metabolic syndrome presence was determined by the existence of three or more risk factors on physical examination and capillary blood sample: abdominal obesity, hypertension, elevated random blood glucose, elevated triglycerides and/or reduced HDL cholesterol. RESULTS: Thirty-seven percent of participants had metabolic syndrome, but none knew they had it. Metabolic syndrome was associated with older age and poorer socio-economic status and may have been associated with lower levels of physical activity but not diet. Of those identified as having hypertension and elevated triglycerides, many were undiagnosed (56% and 29% respectively). CONCLUSION: Metabolic syndrome is prevalent and undiagnosed in clients attending private practice physiotherapy. Clients felt lifestyle change was important and they were willing to make changes. This study highlights the need for greater screening of metabolic risk factors in primary care and presents an opportunity for physiotherapists in private practice to identify risk and intervene to improve the overall health of their clients and contribute to chronic disease prevention. CONTRIBUTION OF THE PAPER.

17.
Prog Cardiovasc Dis ; 83: 55-61, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38417769

RESUMEN

Cardio-respiratory fitness (CRF) is well-established in the clinical domains as an integrative measure of the body's physiological capability and capacity to transport and utilise oxygen during controlled bouts of physical exertion. Long COVID is associated with >200 different symptoms and is estimated to affect ∼150 million people worldwide. The most widely reported impact is reduced quality of life and functional status due to highly sensitive and cyclical symptoms that manifest and are augmented following exposure to physical, emotional, orthostatic, and cognitive stimuli, more commonly known as post-exertional symptom exacerbation (PESE) which prevents millions from engaging in routine daily activities. The use of cardiopulmonary exercise testing (CPET) is commonplace in the assessment of integrated physiology; CPET will undoubtedly play an integral role in furthering the pathophysiology and mechanistic knowledge that will inform bespoke Long COVID treatment and management strategies. An inherent risk of previous attempts to utilise CPET protocols in patients with chronic disease is that these are compounded by PESE and have induced a worsening of symptoms for patients that can last for days or weeks. To do this effectively and to meet the global need, the complex multi-system pathophysiology of Long COVID must be considered to ensure the design and implementation of research that is both safe for participants and capable of advancing mechanistic understanding.


Asunto(s)
COVID-19 , Capacidad Cardiovascular , Síndrome Post Agudo de COVID-19 , Humanos , COVID-19/fisiopatología , COVID-19/diagnóstico , COVID-19/epidemiología , COVID-19/terapia , Prueba de Esfuerzo
18.
Prog Cardiovasc Dis ; 83: 62-70, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38460898

RESUMEN

The Post Covid-19 Condition (commonly known as Long Covid) has been defined by the World Health Organisation as occurring in individuals with a history of probable or confirmed SARS CoV 2 infection, usually within 3 months from the onset of acute Covid-19 infection with symptoms that last for at least two months which cannot be explained by an alternative diagnosis. Long Covid is associated with over two hundred recognised symptoms and affects tens of millions of people worldwide. Widely reported reductions in quality of life(QoL) and functional status are caused by extremely sensitive and cyclical symptom profiles that are augmented following exposure to physical, emotional, orthostatic, and cognitive stimuli. This manifestation prevents millions of people from engaging in routine activities of daily living (ADLs) and has important health and well-being, social and economic impacts. Post-exertional symptom exacerbation (PESE) (also known as post-exertional malaise) is an exacerbation in the severity of fatigue and other symptoms following physical, emotional, orthostatic and cognitive tasks. Typically, this will occur 24-72 h after "over-exertion" and can persist for several days and even weeks. It is a hallmark symptom of Long Covid with a reported prevalence of 86%. The debilitating nature of PESE prevents patients from engaging in physical activity which impacts functional status and QoL. In this review, the authors present an update to the literature relating to PESE in Long Covid and make the case for evidence-based guidelines that support the design and implementation of safe rehabilitation approaches for people with Long Covid. This review also considers the role of objective monitoring to quantify a patient's response to external stimuli which can be used to support the safe management of Long Covid and inform decisions relating to engagement with any stimuli that could prompt an exacerbation of symptoms.


Asunto(s)
Capacidad Cardiovascular , Ejercicio Físico , Síndrome Post Agudo de COVID-19 , Humanos , COVID-19/complicaciones , Síndrome Post Agudo de COVID-19/diagnóstico , Síndrome Post Agudo de COVID-19/patología , Síndrome Post Agudo de COVID-19/terapia , Calidad de Vida
19.
J Psychopharmacol ; 38(4): 382-394, 2024 04.
Artículo en Inglés | MEDLINE | ID: mdl-38494658

RESUMEN

BACKGROUND: Prescribing drugs for psychosis (antipsychotics) is challenging due to high rates of poor treatment outcomes, which are in part explained by an individual's genetics. Pharmacogenomic (PGx) testing can help clinicians tailor the choice or dose of psychosis drugs to an individual's genetics, particularly psychosis drugs with known variable response due to CYP2D6 gene variants ('CYP2D6-PGx antipsychotics'). AIMS: This study aims to investigate differences between demographic groups prescribed 'CYP2D6-PGx antipsychotics' and estimate the proportion of patients eligible for PGx testing based on current pharmacogenomics guidance. METHODS: A cross-sectional study took place extracting data from 243 patients' medical records to explore psychosis drug prescribing, including drug transitions. Demographic data such as age, sex, ethnicity, and clinical sub-team were collected and summarised. Descriptive statistics explored the proportion of 'CYP2D6-PGx antipsychotic' prescribing and the nature of transitions. We used logistic regression analysis to investigate associations between demographic variables and prescription of 'CYP2D6-PGx antipsychotic' versus 'non-CYP2D6-PGx antipsychotic'. RESULTS: Two-thirds (164) of patients had been prescribed a 'CYP2D6-PGx antipsychotic' (aripiprazole, risperidone, haloperidol or zuclopenthixol). Over a fifth (23%) of patients would have met the suggested criteria for PGx testing, following two psychosis drug trials. There were no statistically significant differences between age, sex, or ethnicity in the likelihood of being prescribed a 'CYP2D6-PGx antipsychotic'. CONCLUSIONS: This study demonstrated high rates of prescribing 'CYP2D6-PGx-antipsychotics' in an EIP cohort, providing a rationale for further exploration of how PGx testing can be implemented in EIP services to personalise the prescribing of drugs for psychosis.


Asunto(s)
Antipsicóticos , Psicosis Inducidas por Sustancias , Trastornos Psicóticos , Humanos , Antipsicóticos/uso terapéutico , Farmacogenética , Citocromo P-450 CYP2D6/genética , Estudios Transversales , Trastornos Psicóticos/tratamiento farmacológico , Trastornos Psicóticos/genética , Psicosis Inducidas por Sustancias/tratamiento farmacológico
20.
Appetite ; 71: 369-78, 2013 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-24060269

RESUMEN

This study examined the effects of an acute bout of low-intensity cycling on food intake and energy expenditure over four days. Thirty healthy, active (n=15) and inactive (n=15) men completed two conditions (exercise and control), in a randomised crossover fashion. The exercise experimental day involved cycling for one hour at an intensity equivalent to 50% of maximum oxygen uptake and two hours of rest. The control condition comprised three hours of rest. Participants arrived at the laboratory fasted overnight; breakfast was standardised and an ad libitum pasta lunch was consumed on each experimental day. Participants kept a food diary and wore an Actiheart to estimate energy intake and expenditure for the remainder of the experimental days and over the subsequent 3 days. Ad libitum lunch energy intake did not differ between conditions (p=0.32, d=0.18) or groups (p=0.43, d=0.27). Energy intake in the active group was greater on the exercise experimental day than on the control experimental day (mean difference=2070 kJ; 95% CI 397 to 3743 kJ, p=0.024, d=0.56) while in the inactive group it was increased on only the third day after exercise (mean difference=2225 kJ; 95% CI 414 to 4036 kJ, p=0.024, d=0.80). There was only a group effect (p=0.032, d=0.89) for free-living energy expenditure, indicating that active participants expended more energy than inactive over this period. Acute low-intensity exercise did not affect energy intake at the meal immediately after exercise, but induces an acute (within the experimental day) and delayed (third day after the experimental day) increase in energy intake in active and inactive participants, respectively with no compensatory changes to daily energy expenditure. These results suggest that active individuals compensate for an acute exercise-induced energy deficit quicker than inactive individuals.


Asunto(s)
Ingestión de Energía , Metabolismo Energético , Ejercicio Físico , Adolescente , Adulto , Antropometría , Apetito , Desayuno , Estudios Cruzados , Ayuno , Voluntarios Sanos , Humanos , Hambre , Masculino , Descanso , Adulto Joven
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