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1.
Artigo em Inglês | MEDLINE | ID: mdl-37684057

RESUMO

We identified a de novo heterozygous transient receptor potential cation channel subfamily M (melastatin) member 3 (TRPM3) missense variant, p.(Asn1126Asp), in a patient with developmental delay and manifestations of cerebral palsy (CP) using phenotype-driven prioritization analysis of whole-genome sequencing data with Exomiser. The variant is localized in the functionally important ion transport domain of the TRPM3 protein and predicted to impact the protein structure. Our report adds TRPM3 to the list of Mendelian disease-associated genes that can be associated with CP and provides further evidence for the pathogenicity of the variant p.(Asn1126Asp).


Assuntos
Paralisia Cerebral , Deficiência Intelectual , Malformações do Sistema Nervoso , Canais de Cátion TRPM , Humanos , Paralisia Cerebral/genética , Deficiência Intelectual/genética , Mutação de Sentido Incorreto/genética , Fenótipo , Canais de Cátion TRPM/genética
2.
Am J Addict ; 31(2): 148-151, 2022 03.
Artigo em Inglês | MEDLINE | ID: mdl-35102629

RESUMO

BACKGROUND AND OBJECTIVES: Legalization of recreational cannabis is occurring across the United States, with some controversy. To understand the range of issues that can arise when such a policy change is enacted, we examined portrayal of legalization at the local level by studying newspaper articles in Calgary, Alberta, shortly before and after cannabis legalization in Canada. METHOD: We searched the largest-circulation newspaper for cannabis-related items and analyzed for content and slant toward cannabis legalization. RESULTS: Among 165 items, business/economics (70.9% of items) and legalization (69.7%) were most frequent, with health only 29.7%. Across all items, the slant was more approval (44.2%) than disapproval (23.0%). DISCUSSION AND CONCLUSIONS: When cannabis was legalized, the local newspaper focused more on economic aspects of legalization rather than about health issues. Further research can determine the generalizability of the findings to other locales and provide comparison as other similar policy changes roll out. SCIENTIFIC SIGNIFICANCE: The study provides new information on what happens when drug policies are enacted. Documenting the media portrayal of substance use policies is a promising tool.


Assuntos
Cannabis , Analgésicos , Canadá , Comércio , Humanos , Legislação de Medicamentos , Estados Unidos
3.
Addict Behav ; 119: 106947, 2021 08.
Artigo em Inglês | MEDLINE | ID: mdl-33892312

RESUMO

Little is known about e-cigarette use among persons in substance use disorder (SUD) treatment, or their use of e-cigarettes for smoking cessation. Prevalence of e-cigarette use and correlates of e-cigarette use for smoking cessation were examined among clients in SUD treatment. Participants (n = 332) were current cigarette smokers recruited from 20 residential SUD programs in California. We used multivariable logistic regression to identify correlates of using e-cigarettes for quitting smoking. Almost half (45.2%) of the sample had ever used e-cigarettes for smoking cessation, and 34% had used e-cigarettes in the past 30 days. Smokers who had used e-cigarettes for smoking cessation, compared to those who had not, were younger (adjusted odds ratio [AOR] = 0.94, 95% confidence interval [CI] = 0.91, 0.96), had more than a high school education (AOR = 1.69, 95% CI = 1.07, 2.68), sought treatment for both SUD and mental health disorder (AOR = 2.62, 95% CI = 1.38, 5.00), wanted help quitting smoking (AOR = 1.90, 95% CI = 1.03, 3.50) and perceived e-cigarettes as equally harmful (AOR = 3.03, 95% CI = 1.10, 8.33) or less harmful than tobacco cigarettes (AOR = 2.82, 95% CI = 1.02, 7.77). Black/African American and Hispanic/Latino participants were less likely to use e-cigarettes for smoking cessation than participants who identify as White. E-cigarettes were favorably perceived by clients in residential SUD treatment as a quit smoking aid. Treatment programs should consider how to advise clients with respect to the use of e-cigarettes for smoking cessation.


Assuntos
Sistemas Eletrônicos de Liberação de Nicotina , Abandono do Hábito de Fumar , Transtornos Relacionados ao Uso de Substâncias , Vaping , Humanos , Transtornos Relacionados ao Uso de Substâncias/epidemiologia , Transtornos Relacionados ao Uso de Substâncias/terapia , Fumar Tabaco
4.
J Addict Med ; 15(6): 454-460, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-33323695

RESUMO

This paper offers a review and recommendations for clinicians working with patients interested in discontinuing opioid agonist treatment. As buprenorphine/naloxone has gained widespread acceptance for opioid addiction, many treatment providers and patients have a range of hopes and expectations about its optimal use. A surprising number assume buprenorphine/naloxone is primarily useful as a medication to transition off illicit opioid use, and success is partially defined by discontinuing the medication. Despite accumulating evidence that a majority of patients will need to remain on medication to preserve their gains, clinicians often have to address a patient's fervent desire to taper. Using the concept of "recovery capital," our review addresses (1) the appropriate duration of opioid agonist treatment, (2) risks associated with discontinuing, (3) a checklist that guides the patient through self-assessment of the wisdom of discontinuing opioid agonist treatment, and (4) shared decision making about how to proceed.


Assuntos
Buprenorfina , Transtornos Relacionados ao Uso de Opioides , Analgésicos Opioides/uso terapêutico , Buprenorfina/uso terapêutico , Humanos , Metadona/uso terapêutico , Antagonistas de Entorpecentes/uso terapêutico , Tratamento de Substituição de Opiáceos , Transtornos Relacionados ao Uso de Opioides/tratamento farmacológico
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