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1.
Semin Neurol ; 42(5): 524, 2022 10.
Artigo em Inglês | MEDLINE | ID: mdl-36513095

Assuntos
Neurologia , Humanos
2.
PLoS One ; 18(9): e0291364, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37698999

RESUMO

INTRODUCTION: Myalgic Encephalomyelitis/Chronic Fatigue Syndrome (ME/CFS) is a multisystem chronic disease estimated to affect 836,000-2.5 million individuals in the United States. Persons with ME/CFS have a substantial reduction in their ability to engage in pre-illness levels of activity. Multiple symptoms include profound fatigue, post-exertional malaise, unrefreshing sleep, cognitive impairment, orthostatic intolerance, pain, and other symptoms persisting for more than 6 months. Diagnosis is challenging due to fluctuating and complex symptoms. ME/CFS Common Data Elements (CDEs) were identified in the National Institutes of Health (NIH) National Institute of Neurological Disorders and Stroke (NINDS) Common Data Element Repository. This study reviewed ME/CFS CDEs item content. METHODS: Inclusion criteria for CDEs (measures recommended for ME/CFS) analysis: 1) assesses symptoms; 2) developed for adults; 3) appropriate for patient reported outcome measure (PROM); 4) does not use visual or pictographic responses. Team members independently reviewed CDEs item content using the World Health Organization International Classification of Functioning, Disability and Health (ICF) framework to link meaningful concepts. RESULTS: 119 ME/CFS CDEs (measures) were reviewed and 38 met inclusion criteria, yielding 944 items linked to 1503 ICF meaningful concepts. Most concepts linked to ICF Body Functions component (b-codes; n = 1107, 73.65%) as follows: Fatiguability (n = 220, 14.64%), Energy Level (n = 166, 11.04%), Sleep Functions (n = 137, 9.12%), Emotional Functions (n = 131, 8.72%) and Pain (n = 120, 7.98%). Activities and Participation concepts (d codes) accounted for a smaller percentage of codes (n = 385, 25.62%). Most d codes were linked to the Mobility category (n = 69, 4.59%) and few items linked to Environmental Factors (e codes; n = 11, 0.73%). DISCUSSION: Relatively few items assess the impact of ME/CFS symptoms on Activities and Participation. Findings support development of ME/CFS-specific PROMs, including items that assess activity limitations and participation restrictions. Development of psychometrically-sound, symptom-based item banks administered as computerized adaptive tests can provide robust assessments to assist primary care providers in the diagnosis and care of patients with ME/CFS.


Assuntos
Disfunção Cognitiva , Síndrome de Fadiga Crônica , Adulto , Humanos , Síndrome de Fadiga Crônica/diagnóstico , Elementos de Dados Comuns , Fadiga , Dor
3.
Mayo Clin Proc ; 96(11): 2861-2878, 2021 11.
Artigo em Inglês | MEDLINE | ID: mdl-34454716

RESUMO

Despite myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS) affecting millions of people worldwide, many clinicians lack the knowledge to appropriately diagnose or manage ME/CFS. Unfortunately, clinical guidance has been scarce, obsolete, or potentially harmful. Consequently, up to 91% of patients in the United States remain undiagnosed, and those diagnosed often receive inappropriate treatment. These problems are of increasing importance because after acute COVID-19, a significant percentage of people remain ill for many months with an illness similar to ME/CFS. In 2015, the US National Academy of Medicine published new evidence-based clinical diagnostic criteria that have been adopted by the US Centers for Disease Control and Prevention. Furthermore, the United States and other governments as well as major health care organizations have recently withdrawn graded exercise and cognitive-behavioral therapy as the treatment of choice for patients with ME/CFS. Recently, 21 clinicians specializing in ME/CFS convened to discuss best clinical practices for adults affected by ME/CFS. This article summarizes their top recommendations for generalist and specialist health care providers based on recent scientific progress and decades of clinical experience. There are many steps that clinicians can take to improve the health, function, and quality of life of those with ME/CFS, including those in whom ME/CFS develops after COVID-19. Patients with a lingering illness that follows acute COVID-19 who do not fully meet criteria for ME/CFS may also benefit from these approaches.


Assuntos
Medicina de Família e Comunidade/normas , Síndrome de Fadiga Crônica/terapia , Relações Médico-Paciente , Adulto , Atitude do Pessoal de Saúde , COVID-19/epidemiologia , Síndrome de Fadiga Crônica/diagnóstico , Humanos , Padrões de Prática Médica
4.
Diagnosis (Berl) ; 8(2): 137-152, 2021 05 26.
Artigo em Inglês | MEDLINE | ID: mdl-32324159

RESUMO

The concept that disease rooted principally in chronic aberrant constitutive and reactive activation of mast cells (MCs), without the gross MC neoplasia in mastocytosis, first emerged in the 1980s, but only in the last decade has recognition of "mast cell activation syndrome" (MCAS) grown significantly. Two principal proposals for diagnostic criteria have emerged. One, originally published in 2012, is labeled by its authors as a "consensus" (re-termed here as "consensus-1"). Another sizable contingent of investigators and practitioners favor a different approach (originally published in 2011, newly termed here as "consensus-2"), resembling "consensus-1" in some respects but differing in others, leading to substantial differences between these proposals in the numbers of patients qualifying for diagnosis (and thus treatment). Overdiagnosis by "consensus-2" criteria has potential to be problematic, but underdiagnosis by "consensus-1" criteria seems the far larger problem given (1) increasing appreciation that MCAS is prevalent (up to 17% of the general population), and (2) most MCAS patients, regardless of illness duration prior to diagnosis, can eventually identify treatment yielding sustained improvement. We analyze these proposals (and others) and suggest that, until careful research provides more definitive answers, diagnosis by either proposal is valid, reasonable, and helpful.


Assuntos
Mastocitose , Consenso , Humanos , Mastócitos , Mastocitose/diagnóstico
5.
Environ Toxicol Chem ; 28(12): 2495-521, 2009 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-19382823

RESUMO

The combined excretion of active pharmaceutical ingredients (APIs) via urine and feces is considered the primary route by which APIs from human pharmaceuticals enter the environment. Disposal of unwanted, leftover medications by flushing into sewers has been considered a secondary route-one that does not contribute substantially to overall environmental loadings. The present study presents the first comprehensive examination of secondary routes of API release to the environment and for direct but unintentional human exposure. These include bathing, washing, and laundering, all of which release APIs remaining on the skin from the use of high-content dermal applications or from excretion to the skin via sweating, and disposal of unused and partially used high-content devices. Also discussed are the health hazards associated with: partially used devices, medication disposal practices of consumers, and interpersonal dermal transfer of API residues. Understanding these secondary routes is important from the perspective of pollution prevention, because actions can be designed more easily for reducing the environmental impact of APIs compared with the route of direct excretion (via urine and feces), for reducing the incidence of unintentional and purposeful poisonings of humans and pets, and for improving the quality and cost-effectiveness of health care. Overall, unintentional exposure to APIs for humans via these routes is possibly more important than exposure to trace residues recycled from the environment in drinking water or foods.


Assuntos
Exposição Ambiental , Preparações Farmacêuticas/metabolismo , Esgotos/análise , Animais , Sistemas de Liberação de Medicamentos , Resíduos de Drogas/análise , Efeitos Colaterais e Reações Adversas Relacionados a Medicamentos , Ecologia , Monitoramento Ambiental , Humanos , Pele/metabolismo , Suor/metabolismo
6.
Appl Clin Genet ; 7: 221-34, 2014.
Artigo em Inglês | MEDLINE | ID: mdl-25419155

RESUMO

Leigh syndrome, also referred to as subacute necrotizing encephalomyelopathy, is a severe, early-onset neurodegenerative disorder that is relentlessly progressive and devastating to both the patient and the patient's family. Attributed to the ultimate failure of the mitochondrial respiratory chain, once it starts, the disease often results in the regression of both mental and motor skills, leading to disability and rapid progression to death. It is a mitochondrial disorder with both phenotypic and genetic heterogeneity. The cause of death is most often respiratory failure, but there are a whole host of complications, including refractory seizures, that may further complicate morbidity and mortality. The symptoms may develop slowly or with rapid progression, usually associated with age of onset. Although the disease is usually diagnosed within the first year of life, it is important to note that recent studies reveal phenotypic heterogeneity, with some patients having evidence of in utero presentation and others having adult-onset symptoms.

7.
Pediatr Neurol ; 50(1): 108-11, 2014 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-24138954

RESUMO

BACKGROUND: Elevated plasma homocysteine is a risk factor for arterial and venous thromboses in adults. Homocysteine is increased in cystathionine beta-synthase deficiency, a treatable amino acid metabolic disorder that may be missed on newborn screening placing children at risk of thrombosis and strokes. PATIENT: We present a 3-year-old girl with normal newborn screening for cystathionine beta-synthase deficiency who developed a symptomatic cerebral venous sinus thrombosis. Subsequent testing revealed marked hyperhomocystinemia and genetic testing confirmed cystathionine beta-synthase deficiency. CONCLUSIONS: Current newborn screening is limited in its ability to detect cystathionine beta-synthase deficiency and although postanalytical interpretation may provide increased sensitivity, a normal newborn screening result should not replace the importance of physician surveillance.


Assuntos
Trombose do Corpo Cavernoso/complicações , Homocistinúria/etiologia , Acidente Vascular Cerebral/complicações , Trombose do Corpo Cavernoso/diagnóstico , Pré-Escolar , Feminino , Homocistinúria/diagnóstico , Humanos , Angiografia por Ressonância Magnética , Imageamento por Ressonância Magnética
8.
Expert Rev Clin Pharmacol ; 4(2): 211-32, 2011 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-22115404

RESUMO

Active pharmaceutical ingredients (APIs) are ubiquitous environmental contaminants, resulting primarily from excretion and bathing and from disposal of leftover drugs by consumers and healthcare facilities. Although prudent disposal of leftover drugs has attracted the most attention for reducing API levels in the aquatic environment, a more effective approach would prevent the generation of leftover drugs in the first place. Many aspects of the practice of medicine and pharmacy can be targeted for reducing environmental contamination by APIs. These same modifications--focused on treating humans and the environment as a single, integral patient--could also have collateral outcomes with improved therapeutic outcomes, and with a reduced incidence of unintended poisonings, drug interactions and drug diversion, and lower consumer costs.


Assuntos
Prescrições de Medicamentos/normas , Poluição Ambiental/prevenção & controle , Química Verde/normas , Farmacovigilância , Farmácia/normas , Animais , Poluentes Ambientais/efeitos adversos , Química Verde/métodos , Humanos , Farmácia/métodos
9.
Environ Int ; 35(3): 566-72, 2009 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-19081631

RESUMO

The occurrence of trace levels of prescription and over-the-counter pharmaceuticals in the environment began to receive concerted attention nearly two decades ago. The public's growing awareness and concern over the presence of these chemicals, especially in drinking water, has served to catalyze considerable discussion and debate regarding the best practices for disposal of unused or unwanted medications. In the United States, the first federal guidance for consumers was issued in 2007. It recommends discarding unused pharmaceuticals to household trash, after taking precautions to mix the pharmaceuticals with an inert substance and conceal the contents from view. Providing the consumer with additional options for conscientious disposal are various community, city, and state collection events, ongoing programs, and government-funded pilot projects. These strategies include the opportunity to mail or bring unused medications to various collection points, such as pharmacies, for eventual destruction. All of these approaches to medication disposal play roles in reducing the introduction of pharmaceuticals to the environment.


Assuntos
Eliminação de Resíduos de Serviços de Saúde/métodos , Eliminação de Resíduos de Serviços de Saúde/estatística & dados numéricos , Preparações Farmacêuticas , Poluição Química da Água/prevenção & controle , Humanos , Estados Unidos
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