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1.
NeuroRehabilitation ; 2024 Sep 26.
Artigo em Inglês | MEDLINE | ID: mdl-39331117

RESUMO

BACKGROUND: Hispanics/Latinos are the largest racial/ethnic group among underrepresented populations in the U.S. and multiple sociodemographic, cultural, and linguistic factors have been found to impact their performances on cognitive testing. Despite this, few normative data are available for the heterogeneous Spanish-speaking population in the U.S. OBJECTIVE: To generate normative data on the Trail-Making Test (TMT), Bells Test, Symbol-Digit Modalities Test (SDMT), and the Brief Test of Attention (BTA) for Spanish speakers residing in the U.S. METHODS: The sample included 245 Spanish-speaking individuals aged 18- 80 from eight states across the U.S. (California, Connecticut, Florida, Indiana, New Jersey, Oregon, Virginia, and Wisconsin). Participants were administered attention and processing speed measures as part of a comprehensive neuropsychological battery. We used a Bayesian regression approach to estimate normative data, including covariates found to be important for predicting performances on measures of attention and processing speed. RESULTS: Sociodemographic factors including education, time in the U.S., acculturation, age, and/or sex had differential effects on the TMT-A, TMT-B, SDMT, and the BTA whereas the Bells Test was not influenced by any of these sociodemographic factors. CONCLUSION: Our findings indicate that while sex, age, and educational attainment are important factors to consider, language and acculturation can also influence attention and processing speed performances among Spanish speakers in the U.S.

2.
NeuroRehabilitation ; 2024 Sep 17.
Artigo em Inglês | MEDLINE | ID: mdl-39302388

RESUMO

BACKGROUND: The Rey-Osterrieth Complex Figure Test (ROCFT) and the Clock Drawing Test (CDT) are commonly used in clinical practice. The ROCFT measures constructional praxis, visual perception, and visuospatial learning and memory, and the CDT assesses for visuospatial, constructional, and executive difficulties. Several neurological disorders are associated with visuospatial and visuo-constructional impairments, yet reliable normative data accounting for sociodemographic and acculturative variables are scarce for Hispanics living in the U.S. OBJECTIVE: To generate normative data for the ROCFT and CDT in a Spanish-speaking adult population living in the U.S. METHODS: The sample consisted of 245 cognitively healthy normal adults recruited from several states in the U.S. Each participant was administered the ROCFT and CDT as part of a larger cognitive battery. The ROCFT and CDT were normed using a Bayesian approach. Age, age2, education, sex, acculturation, and language proficiency were included as predictors in the analyses. RESULTS: ROCFT performance was associated with education and age, particularly as they interacted with Spanish language proficiency and time spent in the U.S. Education was significantly associated with recall abilities and a lower memory recall on the ROCFT. Age was found to vary depending on a person's bilingual abilities. Sex did not emerge as a predictor of performance, and it did not interact significantly with other variables. CONCLUSION: This is the first study to include acculturation and language proficiency variables in the creation of norms for the assessment of visuo-constructional abilities. This study will have a large impact on the practice of neuropsychology in the U.S.

3.
NeuroRehabilitation ; 2024 Sep 18.
Artigo em Inglês | MEDLINE | ID: mdl-39302389

RESUMO

BACKGROUND: Hispanics are a significant demographic in the U.S., with diverse cultures and languages. Assessing cognition in this group is complex as cultural and linguistic factors have been found to affect test performance. OBJECTIVE: To generate normative data on the World Health Organization-University of California Los Angeles Auditory Verbal Learning Test (WHO-UCLA AVLT) in a sample of Spanish-speaking Hispanics residing in the U.S. METHODS: The sample included 245 Spanish-speaking individuals aged 18-80 across the U.S. (California, Connecticut, Florida, Indiana, New Jersey, Oregon, Virginia, and Wisconsin). Participants were administered the WHO-UCLA AVLT as part of a comprehensive neuropsychological battery. A Bayesian regression approach was used to estimate normative data, including covariates found to be important for predicting performances on measures of learning and memory. RESULTS: Bayesian models showed a logarithmic link between education and all WHO-UCLA AVLT trials, except recognition. For delayed recall, increased Spanish proficiency benefited women's performance exclusively. Time in the U.S. was a significant predictor for total recall, indicating worse performance with longer residency. CONCLUSION: Recognizing cultural factors like language proficiency and duration of U.S. residence is essential for accurately evaluating cognitive function among Spanish-speaking Hispanics. This research emphasizes the importance of accounting for cultural nuances in developing norms for neuropsychological assessments, thereby improving their relevance and effectiveness in diverse communities.

4.
NeuroRehabilitation ; 2024 Sep 02.
Artigo em Inglês | MEDLINE | ID: mdl-39240592

RESUMO

BACKGROUND: The Test of Memory Malingering (TOMM) is a widely used performance validity measure that is available in both English and Spanish. The Spanish version, however, has historically lacked normative data from samples that are representative of the U.S. Hispanic/Spanish speaking population. OBJECTIVE: The aim of the current study was to collect normative data on the update TOMM 2 for Hispanic individuals residing in the U.S. METHODS: Normative data on the TOMM 2 was collected across 9 sites from different regions of the U.S. The total sample consisted of n = 188 cognitively healthy adults aged 18 and over with no current or prior history of neurological or psychiatric disorder. Descriptive analyses were performed on total raw scores. RESULTS: Participants obtained a mean score of 48.15 (SD = 2.81) on trial 1 of the TOMM 2, 49.86 (SD = 0.487) on trial 2, and 49.84 (SD = 0.509) on the recognition trial. Scores are provided for traditional cutoff scores as well as some popular cutoffs reported in the literature. Item level analyses were conducted as well as evaluation of performance based on a variety of demographics. CONCLUSION: When compared to the English-speaking normative sample used for the original TOMM, this sample demonstrated better performance on the TOMM 2 indicating better cultural appropriateness of the items. This is the first study conducted that provides culturally appropriate descriptive norms for use with Spanish speakers living in the U.S.

5.
NeuroRehabilitation ; 2024 Sep 02.
Artigo em Inglês | MEDLINE | ID: mdl-39240593

RESUMO

BACKGROUND: Normative data for Spanish-speaking populations, particularly Hispanics in the U.S., is notably scarce. OBJECTIVE: This study aims to establish normative data for executive function tests (Modified Wisconsin Card Sorting Test and Stroop Color and Word Test) among Spanish-speaking Hispanics in the U.S. METHODS: We assessed 245 individuals aged 18-80 from eight U.S. states (California, Connecticut, Florida, Indiana, New Jersey, Oregon, Virginia, and Wisconsin) and employed Bayesian regression to estimate norms, considering various sociodemographic factors influencing performance. RESULTS: The posterior distribution suggests a high probability that age impacts SCWT performance, with older adults likely to show greater declines, particularly among those with high proficiency in Spanish. The posterior distribution suggests a stronger effect of age on M-WCST performance among individuals with longer U.S. residency. Educational attainment demonstrates a robust positive impact on M-WCST outcomes, with lower levels of education associated with a higher probability of increased errors. An interaction between education and Spanish proficiency was observed, influencing SCWT scores differently across proficiency levels. Sex and acculturation levels interact to affect SCWT performance, with distinct patterns observed between men and women. This suggests that the impact of acculturation on cognitive test performance may vary by gender. CONCLUSION: Establishing culturally sensitive normative data can enhance accurate identification of executive dysfunction and reduce misdiagnosis risks. This study underscores the importance of considering sociocultural factors including acculturation and language proficiency in neuropsychological assessments to better serve diverse populations.

6.
Alzheimers Dement (Amst) ; 16(3): e12632, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-39130803

RESUMO

INTRODUCTION: Poorer baseline functioning is associated with long-term cognitive decline among Hispanic older adults, but little is known about associations of these factors with Alzheimer's disease (AD) neuroimaging biomarkers. METHODS: A total of 461 Hispanic and White non-Hispanic (NHW) older adults who are cognitively normal (n = 76), had impaired cognition without mild cognitive impairment (MCI) (n = 41), or carried a diagnosis of MCI (n = 253) or dementia (n = 91) completed neuropsychological and functional assessment, genetic testing, and brain magnetic resonance imaging (MRI). Structural equation modeling (SEM) was used to examine predictive associations between functional and cognitive measures of AD neuroimaging biomarkers. RESULTS: MRI volumes significantly predicted functional limitations in both groups. Sex and amyloid load significantly predicted functional limitations among the Hispanic group only. Years of education and MRI regional volume were the strongest predictors of cognition among both groups. DISCUSSION: Results indicate that functional performance is associated with early AD biomarkers among Hispanic older adults. Clinical implications are discussed. Highlights: The current study addresses health disparities in Alzheimer's disease (AD) and related dementia assessment among Hispanics by identifying measures sensitive to early AD biomarkers.Associations of functional measures with AD genetic and neuroimaging biomarkers revealed that similarities in these associations exist between Hispanic and White non-Hispanic individuals, but biological sex and amyloid load significantly predicted functional limitations among the Hispanic group only.These results have clinical implications for physicians who treat Hispanic AD patients and indicate that when compared to traditional diagnostic assessments, functional assessments may better aid in AD diagnostic precision among Hispanics.

8.
NeuroRehabilitation ; 2024 Aug 22.
Artigo em Inglês | MEDLINE | ID: mdl-39213096

RESUMO

BACKGROUND: Linguistic deficits are common across neurological and neurodegenerative disorders. Currently there are limited neuropsychological norms available for Spanish-speaking adults residing in the U.S. OBJECTIVE: To generate norms for two verbal fluency tests and the Boston Naming Test (BNT) in a Spanish-speaking population in the U.S., with adjustments for demographic and cultural variables. METHODS: The sample consisted of 245 adults from the U.S. Participants completed phonological and semantic verbal fluency tests and the BNT. A standardized two-step statistical procedure was used. RESULTS: For the phoneme F, interactions between Spanish proficiency, age, and education arose. Better performance on phonemes A, S, and M was related to education. Spanish proficiency, acculturation, and time in the U.S. were associated with the phonemes S, A, P, M, and R. An age by education interaction was found for phonemes M and R. The FAS and PMR triads were related to age, sex, time in U.S., and Spanish proficiency. For the semantic verbal fluency tests, an interaction between education and Spanish proficiency arose. For the BNT, test scores were related to education, and significant interactions were also found based on education's interaction with Spanish proficiency and acculturation. CONCLUSION: This study highlights the importance of accounting for sociodemographic and acculturative factors when developing normative data for verbal fluency tests and the BNT for dominant Spanish-speaking adults in the U.S. These sociodemographically-adjusted norms will help improve accuracy of diagnosis and interpretation of linguistic test performance in Spanish speakers living in the U.S.

9.
Curr Issues Mol Biol ; 46(5): 3822-3838, 2024 Apr 24.
Artigo em Inglês | MEDLINE | ID: mdl-38785506

RESUMO

Antimicrobial resistance is one of the main global threats to human health in the 21st century due to the rapid appearance of bacterial resistance and the lack of novel bioactive compounds. Natural products, especially from Actinomycetes, remain the best source to refill the drug industry pipeline. Different strategies have been pursued to increase the chances of discovering new molecules, such as studying underexplored environments like arthropod symbionts, which represent a relevant reservoir for active metabolites. This review summarizes recent research on the identification of bioactive molecules produced by Actinomycetes associated with arthropods' microbiome. The metabolites have been categorized based on their structural properties and host, highlighting that multidisciplinary approaches will be the key to fully understanding this complex relationship.

10.
J Pers Med ; 14(1)2024 Jan 18.
Artigo em Inglês | MEDLINE | ID: mdl-38248806

RESUMO

The study's aim was to examine alcohol consumption patterns and predictors of consumption across time among Hispanics with traumatic brain injury (TBI) in the U.S. within ten years post-injury. This longitudinal cohort study included 1342 Hispanic individuals (77.6% males) from the multi-site, longitudinal TBI Model Systems (TBIMS) database. The main outcome measures were consumption information, demographic, and injury characteristics. Across the full sample, alcohol consumption variables generally demonstrated quadratic movement characterized by an initial increase followed by a plateau or slight decrease over the ten years post-injury. The predictors of higher consumption were being men, single, with a history of excessive alcohol use, with a nonviolent mechanism of injury, shorter duration of PTA, and higher levels of education. Participants had a greater number of 5+ drinks/episode occurrences in the past month if they were men and had had a greater number of 5+ drinks/episode occurrences in the month before injury. There was no differential change in alcohol consumption over time as a function of these predictors. This study identified a profile of at-risk Hispanics with TBI for increased alcohol consumption. These individuals should be identified and targeted for early evidence-based alcohol intervention after TBI when results might be most favorable.

11.
J Int Neuropsychol Soc ; 30(2): 128-137, 2024 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-37385978

RESUMO

OBJECTIVE: To explore the relationship between age, education, sex, and ApoE4 (+) status to brain volume among a cohort with amnestic mild cognitive impairment (aMCI). METHOD: One hundred and twenty-three participants were stratified into Hispanic (n = 75) and White non-Hispanic (WNH, N = 48). Multiple linear regression analyses were conducted with age, education, sex, and ApoE4 status as predictor variables and left and right combined MRI volumes of the hippocampus, parahippocampus, and entorhinal cortex as dependent variables. Variations in head sizes were corrected by normalization with a total intracranial volume measurement. RESULTS: Bonferroni-corrected results indicated that when controlling for ApoE4 status, education, and age, sex was a significant predictor of hippocampal volume among the Hispanic group (ß = .000464, R2 = .196, p < .01) and the WNH group (ß = .000455, R2 = .195, p < .05). Education (ß = .000028, R2 = .168, p < .01) and sex (ß = .000261, R2 = .168, p < .01) were significant predictors of parahippocampal volume among the Hispanic MCI group when controlling for the effects of ApoE4 status and age. One-way ANCOVAs comparing hippocampal and parahippocampal volume between males and females within groups revealed that females had significantly larger hippocampal volumes (p < .05). Hispanic females had significantly larger hippocampal (p < .001) and parahippocampal (p < .05) volume compared to males. No sex differences in parahippocampal volume were noted among WNHs. CONCLUSIONS: Biological sex, rather than ApoE4 status, was a greater predictor of hippocampal volume among Hispanic and WNH females. These findings add to the mixed literature on sex differences in dementia research and highlight continued emphasis on ethnic populations to elucidate on neurodegenerative disparities.


Assuntos
Apolipoproteína E4 , Feminino , Humanos , Masculino , Apolipoproteína E4/genética , Biomarcadores , Demografia , Córtex Entorrinal/diagnóstico por imagem , Doenças Neurodegenerativas
12.
Clin Transl Sci ; 17(1): e13698, 2024 01.
Artigo em Inglês | MEDLINE | ID: mdl-38140786

RESUMO

Tramadol is an important minor opioid prescribed for pain management. In this study, we analyzed the well-known impact of CYP2D6 genetic variation and 60 additional variants in eight candidate genes (i.e., ABCG2, SLCO1B1, CYP2D6, CYP2B6, CYP2C19, CYP2C9, CYP3A5, and CYP3A4) on tramadol efficacy and safety. Some 108 patients with pain after surgery admitted to a post-anesthesia care unit (PACU) and prescribed tramadol were recruited. They were genotyped, and tramadol M1/M2 metabolite concentrations were determined by a newly validated HPLC-MS/MS method. CYP2D6 intermediate (IM) and poor (PM) metabolizers showed lower M1 concentrations adjusted for dose/weight at 30 and 120 min compared to ultrarapid (UM) and normal (NM) metabolizers (univariate p < 0.001 and 0.020, multivariate p < 0.001 and 0.001, unstandardized ß coefficients = 0.386 and 0.346, R2 = 0.146 and 0.120, respectively). CYP2B6 PMs (n = 10) were significantly related to a higher reduction in pain 30 min after tramadol intake (univariate p = 0.038, multivariate p = 0.016, unstandardized ß coefficient = 0.224, R2 = 0.178), to lower PACU admission time (p = 0.007), and to lower incidence of adverse drug reactions (p = 0.038) compared to the other phenotypes. CYP3A4 IMs and PMs showed a higher prevalence of drowsiness and dizziness (p = 0.028 and 0.005, respectively). Our results suggest that the interaction of CYP2B6 and CYP2D6 phenotypes may be clinically relevant, pending validation of these results in large, independent cohorts. Additional research is required to clarify the impact of CYP3A4 genetic variation on tramadol response.


Assuntos
Citocromo P-450 CYP2D6 , Tramadol , Humanos , Citocromo P-450 CYP2D6/genética , Citocromo P-450 CYP3A/metabolismo , Citocromo P-450 CYP2B6/genética , Espectrometria de Massas em Tandem , Analgésicos Opioides , Fenótipo , Genótipo , Dor Pós-Operatória , Transportador 1 de Ânion Orgânico Específico do Fígado/genética
13.
Animals (Basel) ; 13(17)2023 Aug 23.
Artigo em Inglês | MEDLINE | ID: mdl-37684955

RESUMO

Investigations of population structuring in wild species are fundamental to complete the bigger picture defining their ecological and biological roles in the marine realm, to estimate their recovery capacity triggered by human disturbance and implement more efficient management strategies for fishery resources. The Blackspot Seabream (Pagellus bogaraveo, Brünnich 1768) is a commercially valuable deep-water fish highly exploited over past decades. Considering its exploitation status, deepening the knowledge of intraspecific variability, genetic diversity, and differentiation using high-performing molecular markers is considered an important step for a more effective stock assessment and fishery management. With one of the largest efforts conceived of and completed by countries overlooking the Atlantic and Mediterranean coasts in recent years, a total of 320 individuals were collected from different fishing grounds in the Mediterranean Sea and Atlantic Ocean and analysed using 29 microsatellite loci. We applied multiple statistical approaches to investigate the species' connectivity and population structure across most of its described distribution area. Considering the incomplete knowledge regarding the migratory behaviour of adults, here we suggest the importance of egg and larval dispersal in sustaining the observed genetic connectivity on such a large geographical scale.

14.
BMC Psychiatry ; 23(1): 683, 2023 09 20.
Artigo em Inglês | MEDLINE | ID: mdl-37730572

RESUMO

In this correspondence, we explain the reasoning for invalidity of the analysis choices by Kolberg et al., and provide the results produced using correct statistical procedures for their study design. Reassuringly, we could verify the original conclusions. That is, results of the corrected statistical models are similar to the results of the original analysis. Regardless of the magnitude of difference that corrected statistical methods make, results and conclusions that are derived from invalid methods are unsubstantiated. By verifying the results, we allow the readers to be assured that the published conclusions in the study by Kolberg et al. now rest on a sound evidential basis.


Assuntos
Sintomas Afetivos , Demência , Humanos , Resolução de Problemas , Análise por Conglomerados , Modelos Estatísticos , Demência/terapia
15.
J Am Geriatr Soc ; 71(12): 3836-3847, 2023 12.
Artigo em Inglês | MEDLINE | ID: mdl-37706540

RESUMO

BACKGROUND: The primary aim of the current pilot study was to examine enrollment rate, data completion, usability, acceptance and use of a mobile telehealth application, Brain CareNotes. A secondary aim was to estimate the application's effect in reducing caregiver burden and behavioral and psychological symptoms related to dementia (BPSD). METHODS: Patient-caregiver dyads (n = 53) were recruited and randomized to intervention and control groups. Assessment of usability, acceptance, BPSD symptoms, and caregiver burden were collected at baseline, 3- and 6-month follow-up. RESULTS: The enrollment rate was acceptable despite pandemic related challenges (53/60 target recruitment sample). Among randomized individuals, there was a retention rate of 85% and data completion was attained for 81.5% of those allocated to usual care and 88.5% of those allocated to Brain CareNotes. Mean caregiver-reported app usability at 6 months was 72.5 (IQR 70.0-90.0) on the System Usability Scale-considered "Good to Excellent"-and user acceptance was reasonable as indicated by 85%-90% of caregivers reporting they would intend to use the app to some degree in the next 6 months, if able. Regarding intervention effect, although differences in outcome measures between the groups were not statistically significant, compared to baseline, we found a reduction of caregiver burden (NPI-Caregiver Distress) of 1.0 at 3 months and 0.7 at 6 months for those in the intervention group. BPSD (NPI Total Score) was also reduced from baseline by 4.0 at 3 months and by 0.5 at 6 months. CONCLUSIONS: Brain CareNotes is a highly scalable, usable and acceptable mobile caregiver intervention. Future studies should focus on testing Brain CareNotes on a larger sample size to examine efficacy of reducing caregiver burden and BPSD.


Assuntos
Doença de Alzheimer , Demência , Humanos , Doença de Alzheimer/terapia , Doença de Alzheimer/psicologia , Cuidadores/psicologia , Demência/psicologia , Estudos de Viabilidade , Projetos Piloto , Encéfalo
16.
J Menopausal Med ; 29(2): 73-83, 2023 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-37691315

RESUMO

OBJECTIVES: This study aims to investigate the effects of a combination of soy isoflavones, 8-prenylnaringenin (8-PN), and melatonin in postmenopausal women suffering from moderate-to-severe hot flashes (HFs). METHODS: A multicenter, prospective, open-label study enrolled 44 postmenopausal women suffering from moderate-to-severe HFs (≥ 5 daily or ≥ 35 weekly) to receive 54.4 mg standardized soy isoflavones (including 24.5 mg genistein and 16.3 mg daidzein), 100 µg 8-PN, and 1 mg melatonin once daily for 12 weeks. The primary clinical outcomes included changes in health-related quality of life (HRQoL) scores (Menopause-Specific QoL questionnaire [MENQoL] and Cervantes Scale) and HFs following 4 and 12 weeks of treatment. Other analyses included treatment adherence, acceptability, tolerability, and safety. RESULTS: All of the four domains of MENQoL questionnaire significantly improved at 4 weeks (P < 0.05) and 12 weeks (P < 0.001), affecting significantly the vasomotor, psychosocial, and physical spheres (41.2%, 26.3%, and 25.0%; 12 weeks improvements, respectively). Similarly, in the menopause (39.3%) and psychic (51.7%) domains (both P < 0.05 at 12 weeks), the global score of the Cervantes Scale significantly increased at 4 weeks (18.6%) and 12 weeks (35.4%). Accordingly, moderate-to-severe HFs significantly decreased at 4 weeks compared to baseline (41.7% reduction) and further reduced at 12 weeks (76.5%), including the total number of episodes. CONCLUSIONS: Food supplements containing soy isoflavones, 8-PN, and melatonin showed an early and progressive benefit for reducing clinically significant HFs and for improving HRQoL across all domains, favorably affecting postmenopausal women's overall well-being.

17.
Sci Data ; 10(1): 648, 2023 09 22.
Artigo em Inglês | MEDLINE | ID: mdl-37737210

RESUMO

Human activity recognition and clinical biomechanics are challenging problems in physical telerehabilitation medicine. However, most publicly available datasets on human body movements cannot be used to study both problems in an out-of-the-lab movement acquisition setting. The objective of the VIDIMU dataset is to pave the way towards affordable patient gross motor tracking solutions for daily life activities recognition and kinematic analysis. The dataset includes 13 activities registered using a commodity camera and five inertial sensors. The video recordings were acquired in 54 subjects, of which 16 also had simultaneous recordings of inertial sensors. The novelty of dataset lies in: (i) the clinical relevance of the chosen movements, (ii) the combined utilization of affordable video and custom sensors, and (iii) the implementation of state-of-the-art tools for multimodal data processing of 3D body pose tracking and motion reconstruction in a musculoskeletal model from inertial data. The validation confirms that a minimally disturbing acquisition protocol, performed according to real-life conditions can provide a comprehensive picture of human joint angles during daily life activities.


Assuntos
Atividades Cotidianas , Movimento , Humanos , Fenômenos Biomecânicos , Relevância Clínica , Movimento (Física) , Reconhecimento Psicológico
18.
Pharmacogenomics ; 24(12): 651-663, 2023 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-37610884

RESUMO

Metformin, a hypoglycemic drug for Type 2 diabetes mellitus, shows variability in pharmacokinetics and response due to membrane transporters. This study followed 34 Type 2 diabetes mellitus patients on metformin treatment. Genetic variants in 11 metformin transport-related genes were analyzed, revealing associations. Specifically, SLC47A1 rs2289669 A/A and SLC22A4 rs1050152 T/T genotypes correlated with glycated hemoglobin values at 6 months. SLC47A1 rs2289669 G/A genotype influenced glucose levels at 6 months, while SLC29A4 rs3889348 A/A, SLC47A1 rs2289669 A/A, SLC22A4 rs1050152 C/T and SLC47A2 rs12943590 A/A genotypes were linked to glucose levels at 12 months. Additionally, ABCB1 rs2032582 C/A and ABCG2 rs2231137 C/T genotypes impacted cholesterol levels at 12 months. These findings shed light on metformin response determinants, offering insights for further research.


Assuntos
Diabetes Mellitus Tipo 2 , Metformina , Humanos , Metformina/uso terapêutico , Metformina/farmacocinética , Diabetes Mellitus Tipo 2/tratamento farmacológico , Diabetes Mellitus Tipo 2/genética , Farmacogenética , Proteínas de Transporte de Cátions Orgânicos/genética , Polimorfismo de Nucleotídeo Único/genética , Hipoglicemiantes/uso terapêutico , Glucose/uso terapêutico
19.
J Pers Med ; 13(4)2023 Apr 20.
Artigo em Inglês | MEDLINE | ID: mdl-37109081

RESUMO

Multiple myeloma (MM) is a hematological neoplasm for which different chemotherapy treatments are used with several drugs in combination. One of the most frequently used drugs for the treatment of MM is the proteasome inhibitor bortezomib. Patients treated with bortezomib are at increased risk for thrombocytopenia, neutropenia, gastrointestinal toxicities, peripheral neuropathy, infection, and fatigue. This drug is almost entirely metabolized by cytochrome CYP450 isoenzymes and transported by the efflux pump P-glycoprotein. Genes encoding both enzymes and transporters involved in the bortezomib pharmacokinetic pathway are highly polymorphic. The response to bortezomib and the incidence of adverse drug reactions (ADRs) vary among patients, which could be due to interindividual variations in these possible pharmacogenetic biomarkers. In this review, we compiled all pharmacogenetic information relevant to the treatment of MM with bortezomib. In addition, we discuss possible future perspectives and the analysis of potential pharmacogenetic markers that could influence the incidence of ADR and the toxicity of bortezomib. It would be a milestone in the field of targeted therapy for MM to relate potential biomarkers to the various effects of bortezomib on patients.

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