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1.
BMC Cardiovasc Disord ; 21(1): 596, 2021 12 16.
Artigo em Inglês | MEDLINE | ID: mdl-34915854

RESUMO

BACKGROUND: To compare clinical and psychological factors among patients with self-perceived statin-associated muscle symptoms (SAMS), confirmed SAMS, and refuted SAMS in coronary heart disease patients (CHD). METHODS: Data were obtained from a cross-sectional study of 1100 CHD outpatients and a study of 71 CHD outpatients attending a randomized, double-blinded, placebo-controlled, crossover study to test effects of atorvastatin 40 mg/day on muscle symptom intensity. Clinical and psychosocial factors were compared between patients with and without SAMS in the cross-sectional study, and between patients with confirmed SAMS and refuted SAMS in the randomized study. RESULTS: Bilateral, symmetric muscle symptoms in the lower extremities during statin treatment were more prevalent in patients with confirmed SAMS compared to patients with refuted SAMS (75% vs. 41%, p = 0.01) in the randomized study. No significant differences in psychological factors (anxiety, depression, worry, insomnia, type D personality characteristics) were detected between patients with and without self-perceived SAMS in the cross-sectional study, or between patients with confirmed SAMS and refuted SAMS, in the randomized study. CONCLUSIONS: Patients with confirmed SAMS more often present with bilateral lower muscle symptoms compared to those with refuted SAMS. Psychological factors were not associated with self-perceived SAMS or confirmed SAMS. A careful pain history and a search for alternative causes of muscle symptoms are likely to promote communication in patients with SAMS, and may reduce the risk for statin discontinuation.


Assuntos
Atorvastatina/efeitos adversos , Doença das Coronárias/tratamento farmacológico , Dislipidemias/tratamento farmacológico , Inibidores de Hidroximetilglutaril-CoA Redutases/efeitos adversos , Doenças Musculares/induzido quimicamente , Adulto , Idoso , Idoso de 80 Anos ou mais , Doença das Coronárias/diagnóstico , Doença das Coronárias/epidemiologia , Estudos Cross-Over , Estudos Transversais , Método Duplo-Cego , Dislipidemias/diagnóstico , Dislipidemias/epidemiologia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Doenças Musculares/diagnóstico , Doenças Musculares/epidemiologia , Doenças Musculares/psicologia , Noruega/epidemiologia , Prevalência , Fatores de Risco , Resultado do Tratamento
2.
J Neuromuscul Dis ; 8(6): 1069-1078, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34120908

RESUMO

BACKGROUND: The impacts of genetic muscle disorders on quality of life in affected children are well-documented. However, few studies have investigated children's coping strategies and relationships between coping and quality of life. OBJECTIVES: To determine coping strategy use, efficacy, and associations with quality of life in children with a genetic muscle disorder. METHODS: Forty-eight children (6-15 years, 58% male) with a genetic muscle disorder were identified as part of a national prevalence study. Children completed the Kidcope in response to a specific stressor (doctors visits) and the Pediatric Quality of Life Inventory Neuromuscular Module. RESULTS: 'Wishful thinking' (75%, 36/48) and 'cognitive restructuring' (71%, 34/48) were the most frequently used coping strategies. 'Self-criticism' (12%, 6/48), and 'blaming others' and 'resignation' (both 19%, 9/48) were the least used strategies. Coping strategy use did not differ across age and sex groups (p's from 0.08 to 1.00). Positive coping strategies tended to be more effective (medians ranged from 2.00 to 2.75) than negative strategies (medians ranged from 1.38 to 2.50). Using a greater number of different types of positive (F(4, 46) = 5.79, p = 0.001) and/or negative (F(4, 44) = 5.64, p 0.001) coping strategies was linked to poorer health-related quality of life. CONCLUSION: We conclude that children with genetic muscle disorders use a wide range of positive and/or negative coping strategies in response to stressors associated with a doctor visit and may benefit from greater support to improve health-related quality of life. Findings support the value of routine screening of children's coping to identify those who would benefit from support.


Assuntos
Adaptação Psicológica , Doenças Musculares/psicologia , Adolescente , Criança , Terapia de Reestruturação Cognitiva , Feminino , Humanos , Masculino , Nova Zelândia , Qualidade de Vida
3.
Int J Mol Sci ; 22(4)2021 Feb 22.
Artigo em Inglês | MEDLINE | ID: mdl-33671495

RESUMO

We are pleased to announce a Special Issue on the Genetic Basis and Epidemiology of Myopathies. This Special Issue is collecting papers pertaining to various lines of research focusing on the genetic basis and the epidemiology of myopathies. The Guest Editors' note combines the contributing authors' reviews and findings of relevant research, and we hope that future studies on myopathies will attempt to confirm these findings and, additionally, evaluate supplementary phenotypic and histological expressions of myopathies, as well as genetic factors in their pathogenesis.


Assuntos
Doenças Musculares/epidemiologia , Doenças Musculares/genética , Animais , Modelos Animais de Doenças , Estudos de Associação Genética , Humanos , Doenças Musculares/psicologia , Doenças Musculares/terapia , Mutação , Fatores de Transcrição/genética , Fatores de Transcrição/metabolismo , Tropomiosina/genética , Tropomiosina/metabolismo
4.
Patient ; 13(4): 423-434, 2020 08.
Artigo em Inglês | MEDLINE | ID: mdl-32329019

RESUMO

BACKGROUND: In rare diseases such as ryanodine receptor 1-related myopathies (RYR1-RM), health-related quality of life (HRQoL) measures are critically important so clinicians and researchers can better understand what symptoms are most important to participants, with the ultimate goal of finding tangible solutions for them. OBJECTIVES: The main objective of this study was to characterize symptoms in individuals with RYR1-RM to inform future research. A secondary objective of this study was to analyze positive and negative sentiments regarding symptoms and treatment effects post N-acetylcysteine (NAC) administration in individuals with RYR1-RM. METHODS: The study used a mixed-methods design applying methodological triangulation. Qualitative data were collected via semi-structured interviews at three visits to characterize symptoms in individuals with RYR1-RM and to analyze treatment effects. Qualitative data were then transformed into quantitative results to measure the frequency with which each symptom was mentioned by participants. RESULTS: A total of 12 symptoms were identified as areas of interest to participants with RYR1-RM, highlighting fatigue and weakness as key symptoms. Data transformation categorized more than 1000 citations, reporting a greater number of positive comments for postintervention interviews than for baseline and preintervention visits and that NAC group participants stated more positive comments regarding treatment effect than did the placebo group. CONCLUSIONS: We present a comprehensive characterization of symptoms in RYR1-RM and how those symptoms influence HRQoL. Furthermore, the introduction of mixed methods may be a valuable way to better understand patient-centered data in rare diseases to support affected individuals in coping with their symptoms.


Assuntos
Acetilcisteína/uso terapêutico , Doenças Musculares/tratamento farmacológico , Doenças Musculares/genética , Doenças Musculares/fisiopatologia , Canal de Liberação de Cálcio do Receptor de Rianodina/genética , Acetilcisteína/administração & dosagem , Acetilcisteína/efeitos adversos , Adaptação Psicológica , Adulto , Criança , Método Duplo-Cego , Fadiga/tratamento farmacológico , Fadiga/fisiopatologia , Feminino , Humanos , Entrevistas como Assunto , Masculino , Pessoa de Meia-Idade , Doenças Musculares/psicologia , Dor/tratamento farmacológico , Dor/fisiopatologia , Qualidade de Vida , Fatores Socioeconômicos
5.
Qual Life Res ; 29(6): 1641-1653, 2020 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-32040747

RESUMO

PURPOSE: To characterize Health-Related Quality of Life (HRQoL) in ambulant individuals with RYR1-RM and to determine if a qualitative PRO tool (subjective self-assessment) complements PROMIS and Neuro-QoL scales to detect changes in HRQoL in ambulant individuals with RYR1-RM post N-acetylcysteine (NAC) treatment. METHODS: The study used a mixed methods research (MMR) design applying methodological triangulation. Qualitative data were collected via semi-structured interviews using open-ended questions. Quantitative data were gathered through PROMIS and Neuro-QoL instruments. Additionally, qualitative data were transformed into quantitative data for subjective self-assessment and frequency analyses. RESULTS: Qualitative results identified five domains and 33 subdomains as areas of interest. The most valuable were the importance of social impacts, the development of several coping strategies, both physical and psychological, and the identification of fatigue and weakness as key symptoms. Data transformation then categorized more than 3100 citations on frequency analyses, globally and by domain, visit, and participant. Regarding quantitative results, there was no clear evidence that any of the three PRO tools captured positive changes as a result of NAC treatment. CONCLUSION: Qualitative results showed a comprehensive characterization of HRQoL in this population based on a symptom/patient-centered approach. These findings will inform future studies. Furthermore, given the similar findings across our multiple methods and endpoints, the introduction of MMR may be a valuable, complementary approach to clinical trials. MMR may be especially useful to incorporate in order to address and follow the FDA's guidance and prioritization on the inclusion of affected individuals' perspectives in clinical trials.


Assuntos
Acetilcisteína/uso terapêutico , Doenças Musculares/psicologia , Qualidade de Vida/psicologia , Canal de Liberação de Cálcio do Receptor de Rianodina/metabolismo , Adaptação Psicológica , Adulto , Fadiga/diagnóstico , Feminino , Nível de Saúde , Humanos
6.
Neuromuscul Disord ; 29(1): 30-38, 2019 01.
Artigo em Inglês | MEDLINE | ID: mdl-30578099

RESUMO

Mutations in RYR1 are a common genetic cause of non-dystrophic neuromuscular disorders. To obtain baseline data concerning the prevalence of fatigue, the psychological disease burden and quality of life associated with these common conditions, we performed a questionnaire study. Seventy-two patients were included in this study, 33 with a congenital myopathy and 39 with malignant hyperthermia or exertional rhabdomyolysis. Our results showed that patients with RYR1-related myopathies have more functional impairments and significant chronic fatigue compared to healthy controls, with almost half of patients being severely fatigued. Whilst fatigue, pain and associated physical and social difficulties were more pronounced in those with permanent phenotypes, individuals with intermittent phenotypes also scored higher in all relevant categories compared to healthy controls. These findings indicate that RYR1-related myopathies, despite being often considered relatively mild conditions, are nevertheless associated with severe fatigue and functional limitations, resulting in substantial loss of quality of life. Moreover, milder but in essence similar findings in patients with RYR1-related malignant hyperthermia and rhabdomyolysis suggest that those phenotypes are not truly episodic but in fact associated with a substantial permanent disease burden. These preliminary data should help to design more comprehensive quality of life studies to inform standards of care.


Assuntos
Fadiga/fisiopatologia , Doenças Musculares/genética , Doenças Musculares/fisiopatologia , Canal de Liberação de Cálcio do Receptor de Rianodina/genética , Estudos de Coortes , Estudos Transversais , Avaliação da Deficiência , Fadiga/genética , Feminino , Humanos , Masculino , Hipertermia Maligna/fisiopatologia , Hipertermia Maligna/psicologia , Pessoa de Meia-Idade , Doenças Musculares/psicologia , Fenótipo , Dados Preliminares , Qualidade de Vida , Inquéritos e Questionários
7.
BMJ Open ; 8(10): e022083, 2018 10 03.
Artigo em Inglês | MEDLINE | ID: mdl-30287669

RESUMO

INTRODUCTION: In adults, muscle disease (MD) is often a chronic long-term condition with no definitive cure. It causes wasting and weakness of the muscles resulting in a progressive decline in mobility, alongside other symptoms, and is typically associated with reduced quality of life (QoL). Previous research suggests that a psychological intervention, and in particular Acceptance and Commitment Therapy (ACT), may help improve QoL in MD. ACT is a newer type of cognitive behavioural treatment that aims to improve QoL by virtue of improvement in a process called psychological flexibility. The primary aim of this randomised controlled trial (RCT) is to evaluate the efficacy of a guided self-help ACT programme for improving QoL in people with MD. Main secondary outcomes are mood, symptom impact, work and social adjustment and function at 9-week follow-up. METHODS AND ANALYSIS: Acceptance and Commitment Therapy for Muscle Disease is an assessor-blind, multicentre, two-armed, parallel-group RCT to assess the efficacy of ACT plus standard medical care (SMC) compared with SMC alone. Individuals with a diagnosis of one of four specific MDs, with a duration of at least 6 months and with mild to moderate anxiety or depression (Hospital Anxiety and Depression Scale score ≥8) will be recruited from UK-based MD clinics and MD patient support organisations. Participants will be randomised to either ACT plus SMC or SMC alone by an independent randomisation service. Participants will be followed up at 3, 6 and 9 weeks. Analysis will be intention to treat, conducted by the trial statistician who will be blinded to treatment allocation. ETHICS AND DISSEMINATION: The study has received full ethical approval. Study results will be disseminated via peer-reviewed publications, conference presentations and journal articles. Data obtained from the trial will enable clinicians and health service providers to make informed decisions regarding the efficacy of ACT for improving QoL for patients with MD. TRIAL REGISTRATION NUMBER: NCT02810028. PROTOCOL VERSION: V.11 (4 April 2017).


Assuntos
Terapia de Aceitação e Compromisso/métodos , Dor Crônica/terapia , Doenças Musculares/terapia , Qualidade de Vida , Dor Crônica/psicologia , Humanos , Estudos Multicêntricos como Assunto , Doenças Musculares/psicologia , Avaliação de Resultados em Cuidados de Saúde , Satisfação do Paciente , Ensaios Clínicos Controlados Aleatórios como Assunto , Reino Unido
8.
J Neuromuscul Dis ; 5(3): 341-352, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-30040738

RESUMO

BACKGROUND: Genetic muscle disorders, including muscular dystrophies, congenital myopathies, and ion channel muscle diseases can be associated with significant disability. OBJECTIVE: This study aimed to explore child and parent perspectives of the impact of living with a genetic muscle disorder. METHODS: Eighty-three children (<16 years) with a clinical or molecular diagnosis were identified as part of a national prevalence study. Parents' experiences and needs were assessed using a study-specific questionnaire. Additional outcome measures included parent and child self-report versions of the Behavior Assessment System for Children and the Pediatric Quality of Life Inventory. Parents also completed the Hospital Anxiety and Depression Scale and Activlim. RESULTS: Sixty-four percent of families had a combined annual household income below $60,000 NZD ($43,650 USD), being less than the national median income of $73,000 NZD ($53,112 USD). Parents reported needing more support than they were currently receiving (40%), particularly with household chores (23%) and transportation (17%). Few parents (13%) or children (4%) reported significant child behavioral difficulties. Risks of impaired quality of life were high (parent proxy 71%, child report 70%), and associated with co-morbid health conditions (p = 0.008), functional status (p = 0.001), wheelchair use (p = 0.001) and mechanical ventilation (p = 0.01). CONCLUSIONS: Findings are relevant to those involved in the care and support of children, and their families, who are impacted by genetic muscle disorders. Targeted guidelines are required to inform the provision of services, alongside promotion of existing community services to improve access to financial support, and assistance with day-to-day functioning. Future research should examine intervention and treatment options aimed at maximising affected children's quality of life.


Assuntos
Efeitos Psicossociais da Doença , Doenças Musculares/genética , Doenças Musculares/psicologia , Pais/psicologia , Adolescente , Adulto , Ansiedade/psicologia , Cuidadores/psicologia , Criança , Comportamento Infantil , Pré-Escolar , Comorbidade , Depressão/psicologia , Avaliação da Deficiência , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Doenças Musculares/epidemiologia , Nova Zelândia/epidemiologia , Qualidade de Vida , Fatores Socioeconômicos , Inquéritos e Questionários
9.
Health Qual Life Outcomes ; 16(1): 37, 2018 Feb 20.
Artigo em Inglês | MEDLINE | ID: mdl-29463245

RESUMO

BACKGROUND: Fatigue often occurs as long-term complication in chronically critically ill (CCI) patients after prolonged intensive care treatment. The Multidimensional Fatigue Inventory (MFI-20) has been established as valid instrument to measure fatigue in a wide range of medical illnesses. Regarding the measurement of fatigue in CCI patients, the psychometric properties of the MFI-20 have not been investigated so far. Thus, the present study examines reliability and validity of the MFI-20 in CCI patients. METHODS: A convenience sample of n = 195 patients with Critical Illness Polyneuropathy (CIP) or Myopathy (CIM) were recruited via personal contact within four weeks (t1) following the transfer from acute care ICU to post-acute ICU at a large rehabilitation hospital. N = 113 (median age 61.1 yrs., 72.6% men) patients were again contacted via telephone three (t2) and six (t3) months following the transfer to post-acute ICU. The MFI-20, the Euro-Quality of Life (EQ-5D-3 L) and the Structured Clinical Interview for the Diagnostic and Statistical Manual of mental disorders DSM-IV (SCID-I) were applied within this prospective cohort study. RESULTS: The internal consistency Cronbach's α was adequate for the MFI-total and all but the subscale Reduced Motivation (RM) (range: .50-.91). Item-to-total correlations (range: .22-.80) indicated item redundancy for the subscale RM. Confirmatory Factor analyses (CFAs) revealed poor model fit for the original 5-factor model of the MFI-20 (t2/t3, Confirmatory Fit Index, CFI = .783/ .834; Tucker-Lewis Index, TLI = .751/ .809; Root Mean Square Error of Approximation, RMSEA = .112/ .103). Among the alternative models (1-, 2-, 3-factor models), the data best fit to a 3-factor solution summarizing the highly correlated factors General -/ Physical Fatigue/ Reduced Activity (GF/ PF/ RA) (t2/ t3, CFI = .878/ .896, TLI = .846/ .869, RMSEA = .089/ .085, 90% Confidence Interval .073-.104/ .066-.104). The MFI-total score significantly correlated with the health-related quality of life (range: -.65-(-).66) and the diagnosis of major depression (range: .27-.37). CONCLUSIONS: In the present sample of CCI patients, a reliable and valid factor structure of the MFI-20 could not be ascertained. Especially the subscale RM should be revised. Since the factors GF, PF and RA cannot be separated from each other and the unclear factorial structure in the present sample of CCI patients, the MFI-20 is not recommended for use in this context. TRIAL REGISTRATION: German Clinical Trials Registration DRKS00003386 . Registered 13 December 2011, retrospectively registered.


Assuntos
Fadiga/diagnóstico , Doenças Musculares/psicologia , Polineuropatias/psicologia , Qualidade de Vida/psicologia , Inquéritos e Questionários/normas , Adulto , Estudos de Casos e Controles , Doença Crônica , Estado Terminal , Transtorno Depressivo Maior , Análise Fatorial , Fadiga/etiologia , Fadiga/psicologia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Doenças Musculares/terapia , Polineuropatias/complicações , Polineuropatias/terapia , Estudos Prospectivos , Psicometria/métodos , Reprodutibilidade dos Testes , Adulto Jovem
10.
J Nerv Ment Dis ; 205(10): 780-787, 2017 10.
Artigo em Inglês | MEDLINE | ID: mdl-28682981

RESUMO

The main aim of this study was to investigate factors associated with a delayed-onset posttraumatic stress disorder (PTSD) after the intensive care unit (ICU) treatment of patients with a chronic critical illness (CCI). Patients (n = 97) with critical illness polyneuropathy or critical illness myopathy were interviewed via the Structured Clinical Interview for Diagnostic and Statistical Manual of Mental Disorders, 4th Edition. The diagnosis of the acute stress disorder was assessed within 1 month (t1), the diagnosis of PTSD at 3 (t2) and 6 (t3) months after transfer from the acute care ICU to the post-acute ICU. Patients showing a delayed-onset or persistent course of PTSD were subsumed in one group; 24.7% (n = 24) showed a delayed-onset PTSD. Significant risk factors were as follows: the severity of the medical illness, the perceived fear of dying at the ICU, the number of traumatic memories from the ICU, and the presence of a coronary heart disease. Every fourth patient with CCI showed a delayed-onset PTSD up to 6 months after the ICU treatment. Markers for a delayed-onset PTSD should already be assessed at the time of discharge from the ICU.


Assuntos
Doença Crônica/psicologia , Estado Terminal/psicologia , Unidades de Terapia Intensiva , Doenças Musculares/psicologia , Polineuropatias/psicologia , Índice de Gravidade de Doença , Transtornos de Estresse Pós-Traumáticos/psicologia , Adulto , Idoso , Doença Crônica/terapia , Estado Terminal/terapia , Feminino , Humanos , Estudos Longitudinais , Masculino , Pessoa de Meia-Idade , Doenças Musculares/complicações , Doenças Musculares/terapia , Polineuropatias/complicações , Polineuropatias/terapia , Fatores de Risco , Transtornos de Estresse Pós-Traumáticos/etiologia , Fatores de Tempo
12.
Complement Med Res ; 24(2): 110-113, 2017.
Artigo em Alemão | MEDLINE | ID: mdl-28278494

RESUMO

There are numerous articles in the literature dealing with the myofascial system, on the physiological, pathological, macroscopic and microscopic level; yet, we still do not have a thorough knowledge of its functions, just as there is still no shared vision of how to classify it. Many professional manual practitioners are involved in its treatment and there are many emerging therapeutic approaches. What is still missing is the awareness that the body is also emotion. The myofascial continuum is able to stimulate the areas of the brain that deal with the emotional state, and manual treatment activates the interoceptive system. To optimize myofascial treatment, a psychologist should work alongside the manual practitioner, creating a multidisciplinary team that takes into account both the physical and emotional aspects.


Assuntos
Emoções/fisiologia , Fáscia/fisiologia , Interocepção , Psicoterapia/métodos , Fáscia/patologia , Humanos , Doenças Musculares/psicologia , Doenças Musculares/terapia , Equipe de Assistência ao Paciente
13.
Patient ; 10(3): 321-334, 2017 06.
Artigo em Inglês | MEDLINE | ID: mdl-27981439

RESUMO

INTRODUCTION: The National Lipid Association Statin Intolerance (SI) Panel recognized the need for better understanding of the patient SI experience. OBJECTIVE: The objective of this research was to develop a patient-reported outcome (PRO) questionnaire to assess a patient's experience with SI. METHODS: Questionnaire development was informed via a series of research activities: literature review, concept elicitation, item generation, and content evaluation. Following the literature review and concept elicitation, a draft questionnaire was constructed and subsequently modified based on feedback from therapeutic area experts and patients via cognitive debriefing interviews. RESULTS: Muscle-related symptoms were the most commonly reported symptoms associated with SI in the literature review (35 of 41 articles reviewed [85%]) and in semi-structured interviews with experts (n = 5 [100%]) and patients (n = 17 of 20 [85.0%]). Physical and other impacts of SI symptoms on daily activities were also frequently reported. A 17-item draft questionnaire was created, and cognitive debriefing with experts (n = 5) and patients (n = 15) was conducted. Overall, the items, response options, and instructions were comprehensible and positively reviewed; minor changes resulted in the 15-item Statin Experience Assessment Questionnaire (SEAQ)©. Using a 30-day recall period, the SEAQ© assesses the severity and impact of six SI symptoms (muscle ache, muscle pain, muscle cramps, muscle weakness, tiredness, and joint pain) on an 11-point numeric scale. Statin discontinuation and likelihood of discontinuation due to symptoms are assessed and scored on a yes/no and five-point verbal response scale, respectively. CONCLUSION: The SEAQ


Assuntos
Artralgia/induzido quimicamente , Inibidores de Hidroximetilglutaril-CoA Redutases/efeitos adversos , Doenças Musculares/induzido quimicamente , Inquéritos e Questionários/normas , Idoso , Artralgia/psicologia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Doenças Musculares/psicologia , Medidas de Resultados Relatados pelo Paciente , Psicometria , Reprodutibilidade dos Testes , Índice de Gravidade de Doença
14.
Continuum (Minneap Minn) ; 22(6, Muscle and Neuromuscular Junction Disorders): 2006-2011, 2016 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-27922504

RESUMO

Patients and their family members often ask about genetic testing for asymptomatic individuals who are at risk for developing a genetic disorder. Ordering a genetic test is a complex process involving consideration of many basic ethical principles including autonomy, beneficence, and nonmaleficence, as well as the physician's duty to act in the patient's best interest. Physicians have many choices regarding what tests to order, and they must develop the knowledge and skills to best discuss genetic testing with their patients. Integration of core ethical principles into these processes will permit physicians to best serve their patients when obtaining informed consent, considering advantages and harms of potential results, disclosing those results, and providing follow-up.


Assuntos
Doenças Assintomáticas , Progressão da Doença , Testes Genéticos/métodos , Doenças Musculares/diagnóstico , Doenças Musculares/genética , Adulto , Doenças Assintomáticas/psicologia , Aconselhamento Genético/métodos , Aconselhamento Genético/psicologia , Humanos , Consentimento Livre e Esclarecido/psicologia , Masculino , Doenças Musculares/psicologia , Fatores de Risco
15.
Pain ; 157(12): 2826-2833, 2016 12.
Artigo em Inglês | MEDLINE | ID: mdl-27780179

RESUMO

For musculoskeletal complaints (MSCs) among adults, several risk factors are known, but the most important determinant is an earlier episode of MSCs. Research has shifted to younger ages, showing a high prevalence of MSCs among children and adolescents. Our purpose was to evaluate the prevalence of MSCs among those growing up from age 11 to 14 and to explore the role of several sociodemographic, growth and development, psychosocial, and lifestyle factors. Data collected at age 11 (n = 2651) and age 14 (n = 2522) in the ongoing Dutch Prevention and Incidence of Asthma and Mite Allergy (PIAMA) birth cohort study were used. Analyses included multiple logistic regression analyses using stepwise backward selection. The 1-year prevalence of any MSCs for at least 1 month increased from 15.8% at age 11 to 24.4% at age 14, and this was also found for upper extremity complaints (from 4.7% to 7.6%), back complaints (from 2.7% to 9.3%), and lower extremity complaints (from 11.9% to 14.7%). More MSCs were found among girls, those with sports injuries, those with sleeping problems, and those with daytime tiredness, although complaints at age 11 were by far the most important factor associated with MSCs at age 14 for all pain sites. This study showed that MSC is already common at an early age and that already at age 14 the factor with the strongest association is an earlier episode of MSCs. Sleeping problems and tiredness may also play a role in the early development of MSCs, either as determinant or as a consequence.


Assuntos
Asma/epidemiologia , Crescimento e Desenvolvimento , Hipersensibilidade/epidemiologia , Doenças Musculares/epidemiologia , Adolescente , Criança , Estudos de Coortes , Feminino , Humanos , Estilo de Vida , Modelos Logísticos , Masculino , Doenças Musculares/psicologia , Países Baixos/epidemiologia
16.
J Med Assoc Thai ; 99 Suppl 2: S147-52, 2016 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-27266229

RESUMO

BACKGROUND: Nonsteroidal anti-inflammatory drugs are a standard treatment option for muscle strain; however, side effects persist. OBJECTIVE: This clinical trial was designed to compare the efficacy of Plai cream compared to placebos in adult patients with muscle strain. MATERIAL AND METHOD: In this randomized, double-blind, placebo-controlled trial, 140 participants aged over 18 years with muscle strain were randomized to receive either Plai cream (n = 70 patients, treatment group) or placebos (n = 70 patients, control group) . Outcome assessments included the visual analog scale (VAS), quality of life (QoL), the amount of remaining cream, and the number of acetaminophen tablets used. RESULTS: After 2 weeks, the mean pain scores following treatment with both Plai cream and placebos in patients with muscle strain decreased from baseline to the end of the study at week 2. However, no significant difference for VA S score was found. The QoL of the two groups showed improvements in QoL as witnessed by increased mean QoL scores from baseline to week 2; however, these differences were not statistically significant. In general, mean QoL scores above 50 indicate good quality of life. The amount of Plai cream used reduced from baseline to week 2, but no significant difference in the amount of cream remaining was found between the two groups at each visit. Similarly, the number of acetaminophen tablets used was not statistically different between the treatment and control groups. CONCLUSION: There was no difference in pain reduction in the 2-week period between patients with muscle strain using Plai cream and those given placebos, but Plai cream tended to reduce pain in the long term. No side effects were found from Plai cream, so this non-invasive treatment may be offered to patients.


Assuntos
Doenças Musculares/tratamento farmacológico , Zingiberaceae , Acetaminofen/uso terapêutico , Adolescente , Adulto , Idoso , Anti-Inflamatórios não Esteroides/uso terapêutico , Método Duplo-Cego , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Doenças Musculares/psicologia , Pomadas , Dor/tratamento farmacológico , Estudos Prospectivos , Qualidade de Vida , Escala Visual Analógica , Adulto Jovem
17.
Muscle Nerve ; 53(4): 644-8, 2016 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-26600210

RESUMO

INTRODUCTION: Neutral lipid-storage disease with myopathy is caused by mutations in PNPLA2, which produce skeletal and cardiac myopathy. We report a man with multiorgan neutral lipid storage and unusual multisystem clinical involvement, including cognitive impairment. METHODS: Quantitative brain MRI with voxel-based morphometry and extended neuropsychological assessment were performed. In parallel, the coding sequences and intron/exon boundaries of the PNPLA2 gene were screened by direct sequencing. RESULTS: Neuropsychological assessment revealed global cognitive impairment, and brain MRI showed reduced gray matter volume in the temporal lobes. Molecular characterization revealed a novel homozygous mutation in exon 5 of PNPLA2 (c.714C>A), resulting in a premature stop codon (p.Cys238*). CONCLUSIONS: Some PNPLA2 mutations, such as the one described here, may present with an extended phenotype, including brain involvement. In these cases, complete neuropsychological testing, combined with quantitative brain MRI, may help to characterize and quantify cognitive impairment.


Assuntos
Lipase/genética , Erros Inatos do Metabolismo Lipídico/diagnóstico , Erros Inatos do Metabolismo Lipídico/genética , Doenças Musculares/diagnóstico , Doenças Musculares/genética , Mutação/genética , Fenótipo , Adulto , Transtornos Cognitivos/diagnóstico , Transtornos Cognitivos/genética , Transtornos Cognitivos/psicologia , Humanos , Erros Inatos do Metabolismo Lipídico/psicologia , Masculino , Doenças Musculares/psicologia
18.
J Shoulder Elbow Surg ; 24(12): 1961-7, 2015 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-26321484

RESUMO

BACKGROUND: The Patient-Reported Outcomes Measurement Information System (PROMIS) Physical Function Computerized Adaptive Test (PF CAT) is a newly developed patient-reported outcome instrument designed by the National Institutes of Health to measure generalized physical function. However, the measurement properties of the PF CAT have not been compared with established shoulder-specific patient-reported outcomes. METHODS: Patients with clinical diagnosis of rotator cuff disease completed the American Shoulder and Elbow Surgeons (ASES) score, Simple Shoulder Test (SST), and PF CAT. Responses to each of the 3 instruments were statistically analyzed with a Rasch partial credit model. Associations between instruments, convergent validity, item and person reliability, ceiling and floor effects, dimensionality, and survey length were determined. RESULTS: Responses from 187 patients were analyzed. The PF CAT required fewer questions than the ASES or SST (PF CAT, 4.3; ASES, 11; SST, 12). Correlation between all instruments was moderately high. Item reliability was excellent for all instruments, but person reliability of the PF CAT was superior (0.93, excellent) to the SST (0.71, moderate) and ASES (0.48, fair). Ceiling effects were similar among all instruments (PF CAT, 0.53%; SST, 6.1%; ASES, 2.3%). Floor effects were found in 21% of respondents to the SST but in only 3.2% of PF CAT and 2.3% of ASES respondents. CONCLUSION: The measurement properties of the PROMIS PF CAT compared favorably with the ASES and SST despite requiring fewer questions to complete. The PROMIS PF CAT had improved person reliability compared with the ASES score and fewer floor effects compared with the SST.


Assuntos
Articulação do Cotovelo/fisiopatologia , Processamento Eletrônico de Dados/métodos , Doenças Musculares/psicologia , Psicometria/métodos , Amplitude de Movimento Articular/fisiologia , Manguito Rotador/fisiopatologia , Ombro/fisiopatologia , Adulto , Idoso , Idoso de 80 Anos ou mais , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Doenças Musculares/fisiopatologia , Recuperação de Função Fisiológica , Reprodutibilidade dos Testes , Sociedades Médicas , Cirurgiões , Estados Unidos , Adulto Jovem
19.
Muscle Nerve ; 52(1): 131-6, 2015 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-25297932

RESUMO

Quality of life (QoL) and mood are reduced in many patients with muscle disorders. Psychological variables appear to be contributors to both QoL and mood, suggesting that psychological interventions could improve these outcomes, yet research in this area is sparse. We review the roles of psychological variables, plus context and disease severity, in explaining QoL. A cognitive-behavioral model of disease self-management, with acceptance as the central component, is discussed. This model is then used to describe how psychological interventions derived from cognitive behavioral therapy (CBT), in particular Acceptance and Commitment Therapy (ACT), might be applied to address the issues of distress, nonadherence to treatments, pain, and fatigue in people with muscle disorders.


Assuntos
Terapia Cognitivo-Comportamental/métodos , Transtornos do Humor/reabilitação , Doenças Musculares/psicologia , Doenças Musculares/reabilitação , Qualidade de Vida/psicologia , Humanos , Transtornos do Humor/etiologia , Doenças Musculares/complicações , Índice de Gravidade de Doença
20.
Med Klin Intensivmed Notfmed ; 109(8): 596-603, 2014 Nov.
Artigo em Alemão | MEDLINE | ID: mdl-25326073

RESUMO

BACKGROUND: In addition to the limitations to the health-related quality of life that have been compiled with validated test instruments, a number of former sepsis patients suffer from functional impairments, which are categorized under the terms critical illness polyneuropathy (CIP) or critical illness myopathy (CIM), which have been in existence for over 20 years now. CURRENT FOCUS: The issues of delirium during intensive therapy and persistent residual neurocognitive impairments, posttraumatic stress disorder (PTSD) and states of depression related to perihospital functional development have increasingly attracted notice. FUTURE: The degree of functional deficits resulting from sepsis and the actual quality of life of those affected may, however, be influenced by taking appropriate rehabilitation measures. However, neither therapeutic rehabilitation standards nor any rehabilitation facilities tailored to the needs of these patients currently exist.


Assuntos
Transtornos Cognitivos/etiologia , Transtornos Cognitivos/psicologia , Cuidados Críticos , Transtorno Depressivo/etiologia , Transtorno Depressivo/psicologia , Doenças Musculares/etiologia , Doenças Musculares/psicologia , Polineuropatias/etiologia , Polineuropatias/psicologia , Sepse/complicações , Sepse/psicologia , Choque Séptico/complicações , Choque Séptico/psicologia , Transtornos de Estresse Pós-Traumáticos/etiologia , Transtornos de Estresse Pós-Traumáticos/psicologia , Avaliação da Deficiência , Mortalidade Hospitalar , Humanos , Doenças Musculares/mortalidade , Polineuropatias/mortalidade , Prognóstico , Qualidade de Vida/psicologia , Sepse/mortalidade , Choque Séptico/mortalidade , Análise de Sobrevida
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