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1.
Am Fam Physician ; 108(3): 240-248, 2023 09.
Artigo em Inglês | MEDLINE | ID: mdl-37725455

RESUMO

Disorders of smell and taste are reported by approximately one-fifth of people 40 years and older, and one-third of people 80 years and older. These disorders affect quality of life and the ability to identify smoke and toxins. Smell and taste disorders can be early signs of dementia or Parkinson disease and are associated with increased mortality. Dysfunction may be apparent or may develop insidiously. Screening questionnaires are available, but many patients are unaware of their disorder. Most smell and taste disorders are due to sinonasal disease but also could be caused by smoking, medications, head trauma, neurodegenerative disease, alcohol dependence, or less common conditions. The differential diagnosis should guide the evaluation and include anterior rhinoscopy and an examination of the oral cavity, head, and cranial nerves. Further investigation is often unnecessary, but nasal endoscopy and computed tomography of the sinuses may be helpful. Magnetic resonance imaging of the head with contrast should be performed if there is an abnormal neurologic examination finding or if trauma or a tumor is suspected. Olfactory testing is indicated in refractory cases or for patients with poor quality of life and disease associated with smell or taste dysfunction. Smell and taste disorders may resolve when reversible causes are treated, but improvement is less likely when they are due to trauma, age, or neurodegenerative disease. Olfactory training is a self-administered mindful exposure therapy that may improve olfactory function. Physicians should encourage patients to ensure that smoke and other alarms are operational and to adhere to food expiration dates.


Assuntos
Doenças Neurodegenerativas , Olfato , Humanos , Qualidade de Vida , Distúrbios do Paladar/diagnóstico , Distúrbios do Paladar/etiologia , Distúrbios do Paladar/terapia , Atenção Primária à Saúde
2.
Circ Genom Precis Med ; 11(9): e002228, 2018 09.
Artigo em Inglês | MEDLINE | ID: mdl-30354330

RESUMO

BACKGROUND: Outcomes of tailoring statin-type based on solute carrier organic anion transporterfamily member 1B1 ( SLCO1B1)pharmacogenetic toxicity information on patient, provider, and pharmacological outcomes are unknown. METHODS: The trial randomized 159 patients not taking statins because of prior statin myalgia 1:1 to receiving SLCO1B1 GIST (Genotype Informed Statin Therapy) versus usual care (UC) and followed for up to 8 months. The UC arm received their SLCO1B1 results post-trial. The primary outcome was statin adherence using the Morisky Medication Adherence Scale, which was assessed in those patients who reinitiated statins. Secondary outcomes assessed in all participants included statin reinitiation and LDLc (low-density lipoprotein cholesterol), within and post-trial. Using commercial laboratory data, serial LDLc were compared between 1907 patients receiving SLCO1B1 testing and propensity-matched, untested controls. RESULTS: Trial participants were 25% SLCO1B1*5 carriers. Statin adherence was similar between arms (Morisky Medication Adherence Scale in GIST versus UC, 6.8±1.5 versus 6.9±1.6, P=0.96). GIST led to more new statin prescriptions (55.4% versus 38.0%, P=0.04) and lower LDLc at 3 months (131.9±42.0 versus 144.4±43.0 mg/dL; P=0.048) with similar magnitude at 8 months (128.6±37.9 versus 141.0±44.4; P=0.12). SLCO1B1*5 carriers exhibited a greater drop in LDLc with GIST versus UC (interaction P=0.048). Post-trial, LDLc decreased in UC participants who crossed over to GIST compared with those allocated to GIST (-14.9±37.8 versus +9.0±37.3 mg/dL, P=0.03). Patients tested for SLCO1B1 though a commercial laboratory had a greater LDLc decrease ( P=0.04) compared with controls. CONCLUSIONS: Delivery of SLCO1B1 pharmacogenetic testing that addresses statin myalgia improved statin reinitiation and LDLc but did not improve self-reported statin adherence. CLINICAL TRIAL REGISTRATION: URL: https://www.clinicaltrials.gov . Unique identifier: NCT01894230.


Assuntos
Doenças Cardiovasculares/tratamento farmacológico , Inibidores de Hidroximetilglutaril-CoA Redutases/administração & dosagem , Transportador 1 de Ânion Orgânico Específico do Fígado/genética , Testes Farmacogenômicos/métodos , Adulto , Idoso , Idoso de 80 Anos ou mais , Doenças Cardiovasculares/sangue , Doenças Cardiovasculares/genética , LDL-Colesterol/sangue , Feminino , Genótipo , Humanos , Masculino , Adesão à Medicação/estatística & dados numéricos , Pessoa de Meia-Idade , Avaliação de Resultados em Cuidados de Saúde/métodos , Avaliação de Resultados em Cuidados de Saúde/estatística & dados numéricos , Medicina de Precisão/métodos , Adulto Jovem
3.
Am Fam Physician ; 96(1): 36-43, 2017 Jul 01.
Artigo em Inglês | MEDLINE | ID: mdl-28671370

RESUMO

An estimated 15% of children in the United States have at least one developmental delay, yet less than one-fifth of those children receive early intervention services before three years of age. Many barriers exist to implementing initial screening and referral, but screening tools can be easily incorporated into the workflow of the primary care practice with preparation. The use of a validated screening tool at regular, repeated intervals, in addition to physician surveillance at well-child visits, may improve early detection. Early intervention is effective in high-risk children and associated with improvements in cognitive and academic performance. Parent-completed tools are preferable to directly administered tools in the primary care setting because of time constraints. The most extensively evaluated parentcompleted tools are the Ages and Stages Questionnaire and the Parents' Evaluation of Developmental Status. Family physicians should be familiar with currently available screening tools and the limitations and strengths of these tools. Additional evaluations and referrals are recommended if screening suggests developmental delays are present.


Assuntos
Deficiências do Desenvolvimento/diagnóstico , Padrões de Prática Médica , Criança , Intervenção Educacional Precoce , Humanos , Estados Unidos
6.
Ann Biol Clin (Paris) ; 72(3): 367-70, 2014.
Artigo em Inglês | MEDLINE | ID: mdl-24876148

RESUMO

Paraneoplastic syndromes (PNPs) refer to cancer-associated signs and symptoms arising in organs and tissues that are remote from the cancer and unrelated to metastasis. Currently the best described PNPs are attributed to tumor secretion of functional peptides and hormones or immune cross-reactivity between tumor and normal host tissues. Paraneoplastic hematologic syndromes are observed more rarely. Here we report a case of paraneoplastic granulocytosis in an advanced lung cancer patient.


Assuntos
Carcinoma Pulmonar de Células não Pequenas/diagnóstico , Granulócitos/patologia , Leucocitose/diagnóstico , Neoplasias Pulmonares/diagnóstico , Síndromes Paraneoplásicas/diagnóstico , Neoplasias das Glândulas Suprarrenais/secundário , Neoplasias Encefálicas/secundário , Proteína C-Reativa/análise , Carcinoma Pulmonar de Células não Pequenas/secundário , Evolução Fatal , Humanos , L-Lactato Desidrogenase/análise , Metástase Linfática/diagnóstico , Masculino , Pessoa de Meia-Idade
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