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1.
Acta Neurol Scand ; 144(5): 576-584, 2021 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-34224135

RESUMO

OBJECTIVES: Huntington's disease (HD) is a progressive neuropsychiatric disease characterized by involuntary movements and behavioural symptoms. This study aimed to explore the association between the level of Sense of Coherence (SOC) and health problems, and psychological distress factors in partners to HD affected persons and their need of support. MATERIALS & METHODS: A cross-sectional, descriptive, correlational design was used. Data was generated from 94 HD partners from almost all networks, outpatient clinics and nursing homes specialized in HD across Sweden. HD partners filled out questionnaires with scales measuring SOC, health problems, psychological distress factors and the Total Functional Capacity Scale (TFC). Non-parametric analysis was used to analyse group differences. RESULTS: Huntington's disease partners with a lower level of SOC experienced more health problems than those with a higher level. Health problems among HD partners were most common among HD affected in TFC stage 3, indicating that the partners need most support during this period. Lower level of SOC was associated with loneliness in the relationship; less possibilities to socialize with friends; worries about the future as well as being subjected to physical aggression. The experience of physical aggression from the HD affected person was common (44.7%) and 28.6% of the partners expressed worries about being subjected to physical aggression. CONCLUSION: Our findings suggest that knowledge about the partners' SOC score may be a helpful indicator identifying HD partners who are more vulnerable and need additional help caring for the person with HD and can be a complementary tool in assessment protocols.


Assuntos
Doença de Huntington , Senso de Coerência , Ansiedade , Estudos Transversais , Humanos , Doença de Huntington/epidemiologia , Inquéritos e Questionários
2.
J Genet Couns ; 27(6): 1438-1446, 2018 12.
Artigo em Inglês | MEDLINE | ID: mdl-29626325

RESUMO

Little is known about how people's lives are influenced when going from a 50% risk status of Huntington's disease (HD) to no risk after performing predictive testing. In this study, 20 interviews were conducted to explore the long-term (> 5 years) experiences after receiving predictive test results as a non-carrier of HD. The results showed a broad variety of both positive and negative reactions. The most prominent positive reaction reported was feelings of relief and gratitude, of not carrying the HD mutation for themselves and for their children. Also, the non-carrier status promoted in some individuals' significant life changes such as a wishing to have (more) children, pursuing a career or breaking up from an unhappy relationship. However, negative reactions on their psychological well-being were also described. Some had experienced psychological pressure of needing to do something extraordinary in their lives; others expressed feelings of guilt towards affected or untested siblings, resulting in sadness or clinical depression. The new genetic risk status could generate a need of re-orientation, a process that for some persons took several years to accomplish. The results of the present study show the importance of offering long-term post-result counselling for non-carriers in order to deal with the psychological consequences that may follow predictive testing.


Assuntos
Emoções , Aconselhamento Genético , Testes Genéticos , Doença de Huntington , Adulto , Idoso , Feminino , Humanos , Doença de Huntington/diagnóstico , Doença de Huntington/genética , Doença de Huntington/psicologia , Masculino , Pessoa de Meia-Idade , Pesquisa Qualitativa
3.
Environ Sci Technol ; 48(6): 3319-26, 2014 Mar 18.
Artigo em Inglês | MEDLINE | ID: mdl-24559155

RESUMO

Hydroxylated (OH-) and methoxylated (MeO-) polybrominated diphenyl ethers (PBDEs) are compounds present in the marine environment and OH-PBDEs are of toxicological concern and are therefore of interest to monitor in the environment. A phenolic octaBDE was tentatively identified in the phenolic fraction of previously analyzed mussel samples after methylation of the halogenated phenolic compounds (HPCs). The aim of the present study was to confirm the identity of this compound in blue mussels and investigate whether the analyte is diOH- and/or OH-MeO-octaBDE. Two reference standards, 6,6'-dimethoxy-2,2',3,3',4,4',5,5'-octabromodiphenyl ether (6,6'-diMeO-BDE194) and 6-ethoxy-6'-methoxy-2,2',3,3',4,4',5,5'-octabromodiphenyl ether (6-EtO-6'-MeO-BDE194) were prepared via O-arylation of 2,3,4,5-tetrabromo-6-methoxyphenol and 2,3,4,5-tetrabromo-6-ethoxyphenol, respectively, with a novel unsymmetrical diaryliodonium salt, 2,3,4,5-tetrabromo-6-methoxydiphenyliodonium triflate. The GC retention time and GC/MS spectrum of the synthesized 6,6'-diMeO-BDE194 correspond well with the analyte in the methylated phenolic fraction of a mussel extract from a previous study. Structural analysis performed in this study indicate that the synthesized 6,6'-diMeO-BDE194 and 6-EtO-6'-MeO-BDE194 correspond well with 6-hydroxy-6'-methoxy-2,2',3,3',4,4',5,5'-octabromodiphenyl ether (6-OH-6'-MeO-BDE194) after methylation and ethylation, respectively, of the HPCs in the mussel extracts. The compound 6-OH-6'-MeO-BDE194 was identified and quantified in new mussels, sampled in 2012 from two locations on the Swedish west coast, with geometric mean concentrations of 3700 and 410 ng/g fat, respectively.


Assuntos
Éteres Difenil Halogenados/análise , Éteres Difenil Halogenados/química , Mytilus edulis/química , Poluentes Químicos da Água/análise , Poluentes Químicos da Água/química , Animais , Monitoramento Ambiental , Cromatografia Gasosa-Espectrometria de Massas , Suécia
4.
Sci Rep ; 10(1): 21581, 2020 12 09.
Artigo em Inglês | MEDLINE | ID: mdl-33299000

RESUMO

Dopamine is an important neurotransmitter that plays a key role in a wide range of both locomotive and cognitive functions in humans. Disturbances on the dopaminergic system cause, among others, psychosis, Parkinson's disease and Huntington's disease. Antipsychotics are drugs that interact primarily with the dopamine receptors and are thus important for the control of psychosis and related disorders. These drugs function as agonists or antagonists and are classified as such in the literature. However, there is still much to learn about the underlying mechanism of action of these drugs. The goal of this investigation is to analyze the intrinsic chemical reactivity, more specifically, the electron donor-acceptor capacity of 217 molecules used as dopaminergic substances, particularly focusing on drugs used to treat psychosis. We analyzed 86 molecules categorized as agonists and 131 molecules classified as antagonists, applying Density Functional Theory calculations. Results show that most of the agonists are electron donors, as is dopamine, whereas most of the antagonists are electron acceptors. Therefore, a new characterization based on the electron transfer capacity is proposed in this study. This new classification can guide the clinical decision-making process based on the physiopathological knowledge of the dopaminergic diseases.


Assuntos
Dopaminérgicos/farmacologia , Desenho de Fármacos , Doença de Huntington/tratamento farmacológico , Doença de Parkinson/tratamento farmacológico , Transtornos Psicóticos/tratamento farmacológico , Dopaminérgicos/uso terapêutico , Humanos
5.
Environ Sci Pollut Res Int ; 22(12): 8989-9041, 2015 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-25913228

RESUMO

Persistent organic pollutants (POPs) have been of environmental and health concern for more than half a century and have their own intergovernmental regulation through the Stockholm Convention, from 2001. One major concern is the nursing child's exposure to POPs, a concern that has led to a very large number of scientific studies on POPs in mothers' milk. The present review is a report on the assessment on worldwide spatial distributions of POPs and of their temporal trends. The data presented herein is a compilation based on scientific publications between 1995 and 2011. It is evident that the concentrations in mothers' milk depend on the use of pesticides and industrial chemicals defined as POPs. Polychlorinated biphenyls (PCBs) and "dioxins" are higher in the more industrialized areas, Europe and Northern America, whereas pesticides are higher in Africa and Asia and polybrominated diphenyl ethers (PBDEs) are reported in higher concentrations in the USA. POPs are consequently distributed to women in all parts of the world and are thus delivered to the nursing child. The review points out several major problems in the reporting of data, which are crucial to enable high quality comparisons. Even though the data set is large, the comparability is hampered by differences in reporting. In conclusion, much more detailed instructions are needed for reporting POPs in mothers' milk. Temporal trend data for POPs in mothers' milk is scarce and is of interest when studying longer time series. The only two countries with long temporal trend studies are Japan and Sweden. In most cases, the trends show decreasing concentrations of POPs in mothers' milk. However, hexabromocyclododecane is showing increasing temporal concentration trends in both Japan and Sweden.


Assuntos
Dioxinas/química , Monitoramento Ambiental , Poluentes Ambientais/metabolismo , Éteres Difenil Halogenados/química , Leite Humano/química , Bifenilos Policlorados/química , Poluentes Ambientais/química , Feminino , Saúde Global , Substâncias Perigosas/química , Humanos , Praguicidas/química , Fatores de Tempo
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