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2.
Clin Interv Aging ; 15: 797-809, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32581521

RESUMO

PURPOSE: Being able to manage a complex medication regimen is key to older people continuing to live at home. This study determined the feasibility of a multi-component intervention to simplify medication regimens for people receiving community-based home care services. PATIENTS AND METHODS: Research nurses recruited people receiving community-based home care services to participate in this non-randomized pilot and feasibility study (Australian New Zealand Clinical Trials Registry ACTRN12618001130257). Participants received a one-off clinical pharmacist intervention comprising medication reconciliation, assessment of capacity to self-manage medications, and application of a structured 5-step tool to identify medication simplification opportunities. A mixed-methods feasibility assessment with an explanatory design was undertaken to assess recruitment, protocol adherence and stakeholder acceptability. Data from interviews with 12 stakeholders were thematically analyzed. Secondary outcome measures, including medication discrepancies, and changes in number of medication administration times per day, quality of life, medication adherence and health service utilization, were determined over a 4-month follow-up. RESULTS: Twenty-five out of the target 50 participants were recruited. Initial recruitment was impacted by apparent uncertain role responsibilities in medication management, with some clients who declined to participate perceiving they would be unlikely to benefit or being reluctant to change regimens. However, with few exceptions, participants who received intervention did so with a high degree of protocol adherence and acceptability. Stakeholders valued the intervention and supported wider implementation. Discrepancies between the baseline medication history from the general medical practitioner and the pharmacist-compiled "best possible medication history" were identified for all participants' regimens (median of 6 per participant), with one-third resolved at follow-up. Simplification was possible for 14 participants (56%) and implemented for 7 (50%) at follow-up. No significant changes in other secondary outcomes were observed. CONCLUSION: The intervention was delivered as planned, and valued by stakeholders. Recruitment barriers should be addressed before wider implementation.


Assuntos
Serviços de Assistência Domiciliar/estatística & dados numéricos , Adesão à Medicação/estatística & dados numéricos , Erros de Medicação/prevenção & controle , Reconciliação de Medicamentos/estatística & dados numéricos , Idoso , Idoso de 80 Anos ou mais , Austrália , Estudos de Viabilidade , Feminino , Clínicos Gerais , Humanos , Masculino , Farmacêuticos/estatística & dados numéricos , Projetos Piloto , Qualidade de Vida
3.
BMJ Open ; 9(7): e025345, 2019 07 19.
Artigo em Inglês | MEDLINE | ID: mdl-31326924

RESUMO

INTRODUCTION: Managing medication regimens is one of the most complex and burdensome tasks performed by older people, and can be prone to errors. People living with dementia may require medication administration assistance from formal and informal caregivers. Simplified medication regimens maintain the same therapeutic intent, but have less complex instructions and administration schedules. This protocol paper outlines a study to determine the feasibility of a multicomponent intervention to simplify medication regimens for people receiving community-based home care services. METHODS AND ANALYSIS: This is a non-randomised pilot and feasibility study. Research nurses will recruit 50 people receiving community-based home care services. All participants will receive the intervention from a clinical pharmacist, who will undertake medication reconciliation, assess each participant's capacity to self-manage their medication regimen and apply a structured tool to identify opportunities for medication simplification. The pharmacist will communicate recommendations regarding medication simplification to registered nurses at the community-based home care provider organisation. The primary outcome will be a description of study feasibility (recruitment and retention rates, protocol adherence and stakeholder acceptability). Secondary outcomes include the change in number of medication administration times per day, medication adherence, quality of life, participant satisfaction, medication incidents, falls and healthcare utilisation at 4 months. ETHICS AND DISSEMINATION: Ethical approval was obtained from the Monash University Human Research Ethics Committee and the community-based home care provider organisation's ethical review panel. Research findings will be disseminated to consumers and caregivers, health professionals, researchers and healthcare providers through the National Health and Medical Research Council Cognitive Decline Partnership Centre and through conference presentations, lay summaries and peer-reviewed publications. This study will enable an improved understanding of medication management and administration among people receiving community-based home care services. This study will inform the decision to proceed with a randomised controlled trial to assess the effect of this intervention. TRIAL REGISTRATION NUMBER: ACTRN12618001130257; Pre-results.


Assuntos
Serviços de Assistência Domiciliar , Conduta do Tratamento Medicamentoso , Acidentes por Quedas/estatística & dados numéricos , Ensaios Clínicos Controlados como Assunto , Estudos de Viabilidade , Humanos , Adesão à Medicação , Projetos Piloto , Qualidade de Vida
4.
Autism Res ; 8(1): 94-104, 2015 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-25371234

RESUMO

Autism spectrum disorders are a set of neurodevelopmental disorders that are highly hereditable. Increased genomic instability has been observed in other heritable paediatric neurobiological disorders; therefore, the aim of our study was to test the hypothesis that DNA damage is increased in children with autism and that B vitamin status may explain variations in genome integrity between autistic and normal children. We compared 35 children with autism, 27 of their siblings without autism and 25 age- and gender-matched community controls for genomic stability using the cytokinesis-block micronucleus cytome (CBMN-cyt) assay, B vitamins and homocysteine, as well as autism-related behaviours. It was found that there were no differences in CBMN-cyt biomarkers between the three groups. Vitamin B2 was significantly raised in children with autism and their siblings compared with controls (P = 0.027 and P = 0.016 respectively) but there was no difference in other B vitamins or homocysteine. In conclusion, although replication using a larger cohort is needed, it appears unlikely that genomic instability is a feature of the aetiology of autism. We cannot rule out in utero effects or other types of DNA damage not measured by the CBMN-cyt assay.


Assuntos
Transtorno Autístico/genética , Citocinese/genética , Instabilidade Genômica/genética , Transtorno Autístico/sangue , Biomarcadores/sangue , Criança , Dano ao DNA/genética , Feminino , Humanos , Masculino , Testes para Micronúcleos/métodos , Reprodutibilidade dos Testes , Irmãos , Complexo Vitamínico B/sangue
5.
Biomark Med ; 8(3): 331-44, 2014.
Artigo em Inglês | MEDLINE | ID: mdl-24712423

RESUMO

Autism spectrum disorder (ASD) is a neurodevelopmental disorder. Many affected individuals also display symptoms of gastrointestinal (GI) disturbance, suggesting GI factors may play an important role in the pathogenesis of ASD and/or related complications. The current review will focus on evidence supporting a role for the GI microbiota and their fermentation products in the etiology and/or symptoms of ASD, and their potential use as biomarkers. GI-related biomarkers could potentially enable early identification of ASD at risk of GI disturbance, and thereby guide targeted interventions, potentially improving the health and quality of life of affected individuals.


Assuntos
Biomarcadores/metabolismo , Transtornos Globais do Desenvolvimento Infantil/metabolismo , Trato Gastrointestinal/microbiologia , Microbiota , Antibacterianos/uso terapêutico , Transtornos Globais do Desenvolvimento Infantil/complicações , Transtornos Globais do Desenvolvimento Infantil/patologia , Clostridium/isolamento & purificação , Constipação Intestinal/complicações , Constipação Intestinal/tratamento farmacológico , Diarreia/complicações , Diarreia/tratamento farmacológico , Humanos , Probióticos/uso terapêutico
6.
Aust Health Rev ; 38(1): 51-7, 2014 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-24351707

RESUMO

OBJECTIVE: To assess the frequency of adverse drug event (ADE)-related admissions (ADE-RAs) during a prospective medical record review of patients admitted to a metropolitan tertiary referral hospital. METHODS: Potential ADE-RA cases were identified by examination of case records of randomly selected patients. Cases were assessed by an expert panel to measure study outcomes, which were the frequency (ADEs and ADE-RAs) as well as type, likelihood of causality, severity, avoidability and detection of ADEs. RESULTS: Of the 370 subjects, 59 (16.0%) had a confirmed ADE-RA, with 15 (4.1%) of these serious and preventable. The 59 ADE-RAs were a result of 72 discreet ADEs. Adverse drug reactions were the most common type of ADE, followed by non-compliance. Of the 72 discreet ADEs, 31.9% were classified as 'probable' or 'highly probable'. Most ADEs (54.2%) were classified as 'definitely avoidable', 34.7% were classified as 'severe' and 21.8% were classified as both 'definitely avoidable' and 'severe'. Half the ADEs were detected after the patient had been admitted and most were detected by medical practitioners. Antineoplastics followed by antidiabetic agents were most frequently implicated. CONCLUSIONS: Implementing a systems approach that involves multiple strategies, such as improving tertiary-to-primary care information transfer and promoting medication adherence through education programs, is necessary to tackle the problem of avoidable ADE-RAs and the associated cost burden. WHAT IS KNOWN ABOUT THE TOPIC? It is estimated that 2-3% of Australian hospital admissions are due to adverse drug events (ADEs), but recent data are lacking. According to the Australian Statistics on Medicines, over 250 million prescriptions were dispensed in 2007, compared with just under 180 million in 1997. This 40% increase in drug utilisation over the 10 years surpasses the Australian population growth of 14% in the same period. An increase in drug use per person indicates that the rate of ADEs and possible ADE-related admissions (ADE-RAs) is likely to have increased. WHAT DOES THIS PAPER ADD? This prospective study was conducted at a large Australian metropolitan teaching hospital and we report that 59 of 370 participants (16.0%) presenting to the Emergency Department had a confirmed ADE-RA, with 15 (4.1%) presenting with a serious and preventable ADE-RA. WHAT ARE THE IMPLICATIONS FOR PRACTITIONERS? The findings of this study support implementing a systems approach involving multiple strategies to tackle the problem of avoidable ADE-RAs and the associated cost burden. This study reveals that half the ADEs were not detected until after the admission process, which reinforces the importance of focusing efforts towards preventing ADE-RAs and detecting ADE-RAs through measures such as those recommended in the Australian Pharmaceutical Advisory Council guiding principles.


Assuntos
Efeitos Colaterais e Reações Adversas Relacionados a Medicamentos/epidemiologia , Hospitalização/estatística & dados numéricos , Idoso , Idoso de 80 Anos ou mais , Austrália , Feminino , Humanos , Masculino , Auditoria Médica , Pessoa de Meia-Idade , Estudos Prospectivos , Centros de Atenção Terciária
7.
Mol Autism ; 4(1): 42, 2013 Nov 04.
Artigo em Inglês | MEDLINE | ID: mdl-24188502

RESUMO

BACKGROUND: A recent report indicated that numbers of Sutterella spp. are elevated in gastrointestinal biopsies taken from children with autism spectrum disorder (ASD). We have recently reported changes in the numbers of some bacteria within the stool of ASD children, and now examine whether numbers of Sutterella spp. and some other mucosa-associated bacteria linked with gastrointestinal disease (Ruminococcus gnavus and Ruminococcus torques) are also altered in the stool of these children. FINDINGS: We show that numbers of Sutterella spp. are elevated in feces of ASD children relative to controls, and that numbers of R. torques are higher in the children with ASD with a reported functional gastrointestinal disorder than those without such a disorder. CONCLUSIONS: We show further evidence of changes in the gut microbiota of children with ASD and confirm that the abundance of Sutterella spp. is altered in stool.

8.
Nutr Metab (Lond) ; 9: 35, 2012 Apr 24.
Artigo em Inglês | MEDLINE | ID: mdl-22524510

RESUMO

BACKGROUND: Glutathione has a wide range of functions; it is an endogenous anti-oxidant and plays a key role in the maintenance of intracellular redox balance and detoxification of xenobiotics. Several studies have indicated that children with autism spectrum disorders may have altered glutathione metabolism which could play a key role in the condition. METHODS: A systematic literature review and meta-analysis was conducted of studies examining metabolites, interventions and/or genes of the glutathione metabolism pathways i.e. the γ-glutamyl cycle and trans-sulphuration pathway in autism spectrum disorders. RESULTS: Thirty nine studies were included in the review comprising an in vitro study, thirty two metabolite and/or co-factor studies, six intervention studies and six studies with genetic data as well as eight studies examining enzyme activity. CONCLUSIONS: The review found evidence for the involvement of the γ-glutamyl cycle and trans-sulphuration pathway in autistic disorder is sufficiently consistent, particularly with respect to the glutathione redox ratio, to warrant further investigation to determine the significance in relation to clinical outcomes. Large, well designed intervention studies that link metabolites, cofactors and genes of the γ-glutamyl cycle and trans-sulphuration pathway with objective behavioural outcomes in children with autism spectrum disorders are required. Future risk factor analysis should include consideration of multiple nutritional status and metabolite biomarkers of pathways linked with the γ-glutamyl cycle and the interaction of genotype in relation to these factors.

9.
Dig Dis Sci ; 57(8): 2096-102, 2012 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-22535281

RESUMO

BACKGROUND AND AIM: Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder where a high frequency of gastrointestinal disturbance (e.g., constipation and diarrhea) is reported. As large bowel fermentation products can have beneficial or detrimental effects on health, these were measured in feces of children with and without ASD to examine whether there is an underlying disturbance in fermentation processes in the disorder. METHODS: Fecal samples (48 h) were collected from children with ASD (n = 23), and without ASD (n = 31) of similar age. Concentrations of short chain fatty acids, phenols and ammonia were measured. RESULTS: Fecal total short chain fatty acid concentrations were significantly higher in children with ASD compared to controls (136.6 ± 8.7 vs. 111.1 ± 6.6 mmol/kg). Moreover, when concentrations of fecal acetic, butyric, isobutyric, valeric, isovaleric and caproic acids were measured, all were significantly higher in children with ASD compared with controls except for caproic acid. The concentration of fecal ammonia was also significantly greater in ASD participants than controls (42.7 ± 3.3 vs. 32.3 ± 1.9 mmol/kg). Fecal phenol levels and pH did not differ between groups. Macronutrient intake, as determined from dietary records kept by caregivers, also did not differ significantly between study groups. CONCLUSIONS: Our results suggest fermentation processes or utilization of fermentation products may be altered in children with ASD compared to children without ASD.


Assuntos
Amônia/análise , Transtornos Globais do Desenvolvimento Infantil/metabolismo , Ácidos Graxos Voláteis/metabolismo , Fezes/química , Fermentação , Adolescente , Estudos de Casos e Controles , Criança , Pré-Escolar , Dieta , Ácidos Graxos Voláteis/análise , Feminino , Humanos , Masculino
10.
Biomarkers ; 16(7): 537-52, 2011 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-22022826

RESUMO

CONTEXT: Autism is a complex, heterogeneous neurodevelopmental condition with a strong genetic component potentially impacted by various environmental factors influencing susceptibility. There are no reliable laboratory tests available to confirm an autism diagnosis. OBJECTIVE: To examine the published literature and identify putative urinary biomarkers of autism. METHODS: A comprehensive literature search was conducted using electronic bibliographic databases. RESULTS: Putative autism biomarkers were identified that could be categorized according to the key theories that exist regarding the etiology of autism: gastrointestinal factors, immune dysregulation, heavy metal toxicity, neurotransmitter abnormalities, and oxidative stress. CONCLUSION: There is scope for specific urinary biomarkers to be useful for identification of autistic metabolic phenotypes.


Assuntos
Biomarcadores/urina , Transtornos Globais do Desenvolvimento Infantil/diagnóstico , Transtornos Globais do Desenvolvimento Infantil/urina , Criança , Glicina/análogos & derivados , Glicina/urina , Humanos , Neopterina/urina , Neurotransmissores/urina , Peptídeos/urina , Porfirinas/urina , Sensibilidade e Especificidade
11.
Appl Environ Microbiol ; 77(18): 6718-21, 2011 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-21784919

RESUMO

Gastrointestinal disturbance is frequently reported for individuals with autism. We used quantitative real-time PCR analysis to quantify fecal bacteria that could influence gastrointestinal health in children with and without autism. Lower relative abundances of Bifidobacteria species and the mucolytic bacterium Akkermansia muciniphila were found in children with autism, the latter suggesting mucus barrier changes.


Assuntos
Transtorno Autístico/complicações , Bifidobacterium/isolamento & purificação , Dispepsia/epidemiologia , Fezes/microbiologia , Verrucomicrobia/isolamento & purificação , Carga Bacteriana , Bifidobacterium/genética , Criança , Dispepsia/microbiologia , Humanos , Muco/metabolismo , Reação em Cadeia da Polimerase em Tempo Real , Verrucomicrobia/genética
12.
Int J Clin Pharm ; 33(4): 621-6, 2011 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-21594591

RESUMO

OBJECTIVE: To characterise the nature of the drug-related problems with warfarin therapy identified in pharmacist-conducted medication reviews during a collaborative post-discharge warfarin management service, with a focus on potentially serious drug interactions. SETTING: Australian community pharmacy practice. METHOD: Medication review reports submitted by pharmacists to patients' general practitioners as part of the service were reviewed and the type and clinical significance of the warfarin-associated drug-related problems, and the pharmacists' recommendations were classified. The prevalence of prescribing of 'potentially hazardous' warfarin drug interactions was investigated and compared with the frequency of documentation of these interactions in the medication review reports. MAIN OUTCOME MEASURE: The number and nature of warfarin-associated drug-related problems identified and the rate of documentation of 'potentially hazardous' warfarin drug interactions in the reports from pharmacist-conducted medication reviews. RESULTS: A total of 157 warfarin-associated drug-related problems were documented in 109 medication review reports (mean 1.4 per patient, 95% CI 1.3-1.6, range 0-5). Drug selection and Education or information were the most commonly identified warfarin-associated drug-related problems; most drug-related problems were of moderate clinical significance. Eight of 23 potentially serious warfarin drug interactions (34.8%) were identified in the medication review reports. CONCLUSION: Pharmacists addressing drug selection and warfarin education drug-related problems during medication reviews may have contributed to the positive outcomes of the post-discharge service. Warfarin drug interactions were frequently identified; however, well-recognised potentially hazardous interactions were under-reported. Improved communication along the continuum of care would permit improved targeting of drug-related problem reporting, especially in relation to preventable drug interactions.


Assuntos
Serviços Comunitários de Farmácia , Revisão de Uso de Medicamentos/métodos , Efeitos Colaterais e Reações Adversas Relacionados a Medicamentos/diagnóstico , Alta do Paciente , Farmacêuticos , Varfarina/efeitos adversos , Estudos de Coortes , Serviços Comunitários de Farmácia/normas , Interações Medicamentosas , Revisão de Uso de Medicamentos/normas , Efeitos Colaterais e Reações Adversas Relacionados a Medicamentos/epidemiologia , Humanos , Alta do Paciente/normas , Farmacêuticos/normas , Papel Profissional , Estudos Prospectivos
13.
Ann Pharmacother ; 45(3): 325-34, 2011 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-21386021

RESUMO

BACKGROUND: Warfarin remains a high-risk drug for adverse events, especially following discharge from the hospital. New approaches are needed to minimize the potential for adverse outcomes during this period. OBJECTIVE: To evaluate the clinical outcomes of a collaborative, home-based postdischarge warfarin management service adapted from the Australian Home Medicines Review (HMR) program. METHODS: In a prospective, nonrandomized controlled cohort study, patients discharged from the hospital and newly initiated on or continuing warfarin therapy received either usual care (UC) or a postdischarge service (PDS) of 2 or 3 home visits by a trained, HMR-accredited pharmacist in their first 8 to 10 days postdischarge. The PDS involved point-of-care international normalized ratio (INR) monitoring, warfarin education, and an HMR, in collaboration with the patient's general practitioner and community pharmacist. The primary outcome measure was the combined incidence of major and minor hemorrhagic events in the 90 days postdischarge. Secondary outcome measures included the incidences of thrombotic events, combined hemorrhagic and thombotic events, unplanned and warfarin-related hospital readmissions, death, INR control, and persistence with therapy at 8 and 90 days postdischarge. RESULTS: The PDS (n=129) was associated with statistically significantly decreased rates of combined major and minor hemorrhagic events to day 90 (5.3% vs 14.7%; p=0.03) and day 8 (0.9% vs 7.2%; p=0.01) compared with UC (n=139). The rate of combined hemorrhagic and thrombotic events to day 90 also decreased (6.4% vs 19.0%; p=0.008) and persistence with warfarin therapy improved (95.4% vs 83.6%; p=0.004). No significant differences in readmission and death rates or INR control were demonstrated. CONCLUSIONS: This study demonstrated the ability of appropriately trained accredited pharmacists working within the Australian HMR framework to reduce adverse events and improve persistence in patients taking warfarin following hospital discharge. Widespread implementation of such a service has the potential to enhance medication safety along the continuum of care.


Assuntos
Anticoagulantes/uso terapêutico , Serviços de Assistência Domiciliar/organização & administração , Varfarina/uso terapêutico , Anticoagulantes/administração & dosagem , Austrália , Estudos de Coortes , Feminino , Humanos , Coeficiente Internacional Normatizado , Masculino , Alta do Paciente , Readmissão do Paciente , Estudos Prospectivos , Resultado do Tratamento , Varfarina/administração & dosagem
14.
Res Social Adm Pharm ; 6(3): 221-31, 2010 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-20813335

RESUMO

BACKGROUND: Adverse drug reactions are recognized as a significant public health issue. Pharmacogenetics (PGx) provides a potential means of preventing some adverse drug reactions by predicting the optimal medication dose for an individual; however, PGx is rarely used in clinical practice. Thus far, there have been few studies investigating consumers' perceptions of the barriers to the implementation of PGx in clinical practice. OBJECTIVES: This study explored the views of the general public regarding their current use of medications, and their experiences of side effects and opinions on PGx. METHODS: Members of the general public who suffered a chronic medical condition and/or had an immediate family member with a chronic medical condition were recruited to form 5 separate focus groups (n=35). Three separate age ranges were used in the focus groups. A questioning route was developed and used in focus groups to determine participants' experiences with medication use and opinions on PGx (referred to as "Personalized Medicine"). Focus group discussions were transcribed by 2 separate investigators, and qualitative analysis, based on the framework approach, was applied to the data. Data were independently coded to identify key themes then compared both within and between focus groups. RESULTS: A common theme was a desire to have a holistic approach to disease diagnosis and medication selection. A wide range of views were expressed by the focus group participants. Concerns were raised regarding the current level of side effects experienced with medications. Storage and privacy of genetic information, and the costs involved, were also seen as potential barriers to implementation of PGx. CONCLUSIONS: PGx testing was seen as a potential positive contribution, but only if other factors were considered during the prescribing process. As participants desired a high level of information and effective communication from their health-care professionals, PGx education of clinicians and pharmacists will be essential to satisfy consumers' requirements.


Assuntos
Efeitos Colaterais e Reações Adversas Relacionados a Medicamentos , Conhecimentos, Atitudes e Prática em Saúde , Farmacogenética , Adolescente , Adulto , Atitude Frente a Saúde , Feminino , Grupos Focais , Privacidade Genética/psicologia , Saúde Holística , Humanos , Masculino , Pessoa de Meia-Idade , Preparações Farmacêuticas/administração & dosagem , Medicina de Precisão , Opinião Pública , Austrália do Sul , Adulto Jovem
15.
Autism Res ; 3(5): 268-72, 2010 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-20589913

RESUMO

Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder that presents in the first three years of life. Currently, diagnosis of ASD is based on its behavioural manifestations, as laboratory diagnostic tests do not exist. Creatine deficiency syndrome (CDS) is one form of inborn error of metabolism where affected individuals have similar clinical features to individuals with ASD. Abnormal urinary creatine (CR) and guanidinoacetate (GAA) levels have been reported as biomarkers of CDS. We hypothesized that screening for abnormal levels of urinary CR and GAA in children with ASD may assist in identifying a subgroup of ASD individuals who can be managed with dietary interventions. Morning urine samples were collected from children with and without autism and analyzed for CR and GAA levels. Results showed there was no statistically significant difference in urinary CR:creatinine and GAA:creatinine between the children with ASD and sibling or unrelated controls. In conclusion, routine screening for abnormal urinary CR and GAA could be considered in ASD diagnostic protocols; however, individuals positive for CDS are likely to be rare in an ASD cohort.


Assuntos
Transtornos Globais do Desenvolvimento Infantil/urina , Programas de Rastreamento/métodos , Biomarcadores/urina , Encefalopatias Metabólicas Congênitas/complicações , Encefalopatias Metabólicas Congênitas/diagnóstico , Encefalopatias Metabólicas Congênitas/urina , Criança , Transtornos Globais do Desenvolvimento Infantil/etiologia , Cromatografia Líquida de Alta Pressão/métodos , Creatina/deficiência , Creatina/urina , Feminino , Glicina/análogos & derivados , Glicina/urina , Humanos , Masculino , Deficiência Intelectual Ligada ao Cromossomo X/complicações , Deficiência Intelectual Ligada ao Cromossomo X/diagnóstico , Deficiência Intelectual Ligada ao Cromossomo X/urina , Proteínas da Membrana Plasmática de Transporte de Neurotransmissores/deficiência , Proteínas da Membrana Plasmática de Transporte de Neurotransmissores/urina , Síndrome , Espectrometria de Massas em Tandem/métodos
16.
Am J Clin Nutr ; 91(6): 1598-620, 2010 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-20410097

RESUMO

BACKGROUND: Autism is a complex neurodevelopmental disorder that is increasingly being recognized as a public health issue. Recent evidence has emerged that children with autism may have altered folate or methionine metabolism, which suggests the folate-methionine cycle may play a key role in the etiology of autism. OBJECTIVE: The objective was to conduct a systematic review to examine the evidence for the involvement of alterations in folate-methionine metabolism in the etiology of autism. DESIGN: A systematic literature review was conducted of studies reporting data for metabolites, interventions, or genes of the folate-methionine pathway in autism. Eighteen studies met the inclusion criteria, 17 of which provided data on metabolites, 5 on interventions, and 6 on genes and their related polymorphisms. RESULTS: The findings of the review were conflicting. The variance in results can be attributed to heterogeneity between subjects with autism, sampling issues, and the wide range of analytic techniques used. Most genetic studies were inadequately powered to provide more than an indication of likely genetic relations. CONCLUSIONS: The review concluded that further research is required with appropriately standardized and adequately powered study designs before any definitive conclusions can be made about the role for a dysfunctional folate-methionine pathway in the etiology of autism. There is also a need to determine whether functional benefits occur when correcting apparent deficits in folate-methionine metabolism in children with autism.


Assuntos
Transtorno Autístico/metabolismo , Ácido Fólico/metabolismo , Metionina/metabolismo , Transtorno Autístico/genética , Humanos
17.
J Proteome Res ; 9(6): 2996-3004, 2010 Jun 04.
Artigo em Inglês | MEDLINE | ID: mdl-20337404

RESUMO

Autism is an early onset developmental disorder with a severe life-long impact on behavior and social functioning that has associated metabolic abnormalities. The urinary metabolic phenotypes of individuals (age range=3-9 years old) diagnosed with autism using the DSM-IV-TR criteria (n = 39; male = 35; female = 4), together with their nonautistic siblings (n = 28; male = 14; female = 14) and age-matched healthy volunteers (n = 34, male = 17; female = 17) have been characterized for the first time using (1)H NMR spectroscopy and pattern recognition methods. Novel findings associated with alterations in nicotinic acid metabolism within autistic individuals showing increased urinary excretion of N-methyl-2-pyridone-5-carboxamide, N-methyl nicotinic acid, and N-methyl nicotinamide indicate a perturbation in the tryptophan-nicotinic acid metabolic pathway. Multivariate statistical analysis indicated urinary patterns of the free amino acids, glutamate and taurine were significantly different between groups with the autistic children showing higher levels of urinary taurine and a lower level of urinary glutamate, indicating perturbation in sulfur and amino acid metabolism in these children. Additionally, metabolic phenotype (metabotype) differences were observed between autistic and control children, which were associated with perturbations in the relative patterns of urinary mammalian-microbial cometabolites including dimethylamine, hippurate, and phenyacetylglutamine. These biochemical changes are consistent with some of the known abnormalities of gut microbiota found in autistic individuals and the associated gastrointestinal dysfunction and may be of value in monitoring the success of therapeutic interventions.


Assuntos
Transtorno Autístico/urina , Metabolômica/métodos , Aminoácidos/metabolismo , Aminoácidos/urina , Biomarcadores/urina , Estudos de Casos e Controles , Criança , Pré-Escolar , Estudos de Coortes , Creatinina/metabolismo , Creatinina/urina , Feminino , Humanos , Masculino , Metaboloma , Análise Multivariada , Ressonância Magnética Nuclear Biomolecular , Reconhecimento Automatizado de Padrão , Análise de Componente Principal , Irmãos
18.
J Autism Dev Disord ; 40(1): 112-22, 2010 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-19644746

RESUMO

Children with autism are frequently observed to experience difficulties in sensory processing. This study examined specific patterns of sensory processing in 54 children with autistic disorder and their association with adaptive behavior. Model-based cluster analysis revealed three distinct sensory processing subtypes in autism. These subtypes were differentiated by taste and smell sensitivity and movement-related sensory behavior. Further, sensory processing subtypes predicted communication competence and maladaptive behavior. The findings of this study lay the foundation for the generation of more specific hypotheses regarding the mechanisms of sensory processing dysfunction in autism, and support the continued use of sensory-based interventions in the remediation of communication and behavioral difficulties in autism.


Assuntos
Adaptação Psicológica , Transtorno Autístico/complicações , Transtornos de Sensação/classificação , Transtornos de Sensação/etiologia , Criança , Pré-Escolar , Comunicação , Feminino , Humanos , Masculino , Testes Psicológicos , Psicometria , Transtornos de Sensação/diagnóstico , Índice de Gravidade de Doença
19.
Biomarkers ; 14(8): 596-603, 2009 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-19697973

RESUMO

An autism spectrum disorder (ASD) diagnosis is based on clinical behaviours as there are no validated biological diagnostic tools. Indolyl-3-acryloylglycine (IAG) is a chemical produced by gut microflora and there are conflicting reports as to whether urinary levels are elevated in children with ASD compared with controls. Urinary IAG levels in morning urine samples were statistically significantly higher in children with ASD whose caregivers reported the presence of chronic gastrointestinal (GI) disturbance than children with ASD without chronic GI disturbance. Urinary IAG, however, was not statistically significantly higher in children with ASD, compared with siblings or unrelated controls without ASD.


Assuntos
Transtorno Autístico/urina , Transtornos Globais do Desenvolvimento Infantil/urina , Gastroenteropatias/urina , Glicina/análogos & derivados , Transtorno Autístico/complicações , Biomarcadores , Criança , Transtornos Globais do Desenvolvimento Infantil/diagnóstico , Creatinina/urina , Feminino , Gastroenteropatias/complicações , Glicina/urina , Humanos , Masculino
20.
Pharm World Sci ; 31(3): 373-9, 2009 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-19043801

RESUMO

OBJECTIVE: To determine the frequency and clinical significance of medication errors when (a) pharmacists elicit medication histories in the Emergency Department after medications have been prescribed by doctors and (b) pharmacists obtain and chart medication histories prior to doctors' approval. SETTING: The Queen Elizabeth Hospital, a 350 bed South Australian teaching hospital, serving the local adult community. METHOD: Emergency Department patients at risk of medication misadventure were recruited in two phases with a 'usual practice' arm (6 weeks) and a 'pharmacist medication charting' arm (5 weeks) reflecting an alternative intervention. In the 'usual care' arm, medication histories were compiled by a pharmacy researcher after a doctor had completed the medication chart. The researcher-elicited medication histories were compared with the doctors' medication charts and unintentional discrepancies were recorded. In the 'pharmacist medication charting' arm, the same process was followed except the researcher compiled the patients' medication histories at triage, prior to patients seeing a doctor. The medication history was then transcribed onto a medication chart for authorisation by a doctor. In addition, whether resolution of unintentional discrepancies for patients in the 'usual care' arm had occurred by discharge was determined by examining patients' medical records. Main outcome measure Frequency of unintentional discrepancies and medication errors. RESULTS: The study included 45 and 29 patients in the 'usual care' and intervention arms, respectively. In the 'usual care' arm, 75.6% of patients had one or more unintentional discrepancies compared with 3.3% in the 'pharmacist medication charting' arm. This resulted in an average of 2.35 missed doses per patient in the 'usual care' arm and 0.24 in the intervention arm. In addition, an average of 1.04 incorrect doses per patient were administered in the 'usual care' arm and none in the 'pharmacist medication charting' arm. The differences observed between the arms were statistically significant (P < 0.05) and deemed clinically significant by a multidisciplinary panel. CONCLUSION: This study provides evidence for pharmacists eliciting medication histories to prepare medication charts at the earliest possible opportunity following a patient's presentation to the Emergency Department.


Assuntos
Serviço Hospitalar de Emergência/estatística & dados numéricos , Anamnese/normas , Erros de Medicação/estatística & dados numéricos , Farmacêuticos/normas , Idoso , Idoso de 80 Anos ou mais , Serviço Hospitalar de Emergência/normas , Feminino , Hospitais de Ensino , Humanos , Masculino , Anamnese/métodos , Erros de Medicação/prevenção & controle , Pessoa de Meia-Idade , Admissão do Paciente/normas , Admissão do Paciente/estatística & dados numéricos , Farmacêuticos/organização & administração , Serviço de Farmácia Hospitalar/organização & administração , Serviço de Farmácia Hospitalar/normas , Papel Profissional , Austrália do Sul
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