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1.
Neurosci Lett ; 820: 137591, 2024 Jan 18.
Artigo em Inglês | MEDLINE | ID: mdl-38103630

RESUMO

We describe a novel I180F mutation in PSEN1 in which biomarker-supported Alzheimer's disease (AD) segregated in two affected family members. The affected amino acid is highly conserved across species and in silico models predict pathogenicity for AD. The mean age of onset was 56 which was reasonably predicted by the pattern of Aß species produced in an in vitro model.


Assuntos
Doença de Alzheimer , Peptídeos beta-Amiloides , Presenilina-1 , Humanos , Idade de Início , Doença de Alzheimer/diagnóstico , Doença de Alzheimer/genética , Doença de Alzheimer/metabolismo , Aminoácidos , Peptídeos beta-Amiloides/genética , Peptídeos beta-Amiloides/metabolismo , Biomarcadores , Mutação , Presenilina-1/genética , Presenilina-1/metabolismo
2.
J Genet Couns ; 28(5): 921-932, 2019 10.
Artigo em Inglês | MEDLINE | ID: mdl-31207006

RESUMO

Trials to prevent autosomal dominantly inherited Alzheimer's disease (ADAD) are critical and timely. However, cultural beliefs about AD and genetic testing may preclude informed consent and participation, especially among racial/ethnic minorities. This mixed-methods study examines cultural beliefs about AD and genetic screening among at-risk populations of Mexican heritage. We surveyed 86 Mexican and 37 Mexican-American family members of patients with ADAD and interviewed 18 respondents in Mexico to explore perceptions and knowledge regarding AD and genetic testing. While most respondents understood that AD is inherited in their families, they also had limited understanding of the genetic mechanisms behind AD. Many believed that AD is a normal part of aging or that it is a mental illness caused by bad habits. However, beliefs that AD is caused by a curse or God's will were uncommon. The interviews demonstrated that very few at-risk respondents understood their own risk for harboring the mutation causing AD in their family. Once informed, most expressed a strong interest in genetic testing, largely motivated by the desire to be better prepared for the development of AD. Health professionals treating and investigators enrolling members from families with ADAD cannot assume that they fully understand the nature of the illness; therefore, providers should provide comprehensive information about ADAD and genetic testing.


Assuntos
Características Culturais , Demência/genética , Testes Genéticos , Americanos Mexicanos/psicologia , Doença de Alzheimer/genética , Artrogripose , Feminino , Humanos , Masculino , Mutação
3.
J Adolesc Health ; 60(2): 212-218, 2017 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-27889401

RESUMO

PURPOSE: We identified and treated young adults with type 1 diabetes who had been lost to follow-up during their transfer from pediatric to adult care, comparing their clinical, psychosocial, and health care utilization outcomes to participants receiving continuous care (CC) throughout the transition to adult care. METHODS: Individuals in their last year of pediatric care (CC group, n = 51) and individuals lost to follow-up in the transfer to adult care ("lapsed care" [LC] group, n = 24) were followed prospectively for 12 months. All participants were provided developmentally tailored diabetes education, case management, and clinical care through a structured transition program. RESULTS: At baseline, LC participants reported lapses in care of 11.6 months. Compared with CC participants, they had higher hemoglobin A1C (A1C; p = .005), depressive symptoms (p = .05), incidence of severe hypoglycemia (p = .005), and emergency department visits (p = .004). At 12-month follow-up, CC and LC participants did not differ on the number of diabetes care visits (p = .23), severe hypoglycemia (no events), or emergency department visits (p = .22). Both groups' A1C improved during the study period (CC: p = .03; LC: p = .02). LC participants' depressive symptoms remained elevated (p = .10), and they reported a decline in life satisfaction (p = .007). There was greater loss to follow-up in the LC group (p = .04). CONCLUSIONS: Our study suggests that, for young adults with a history of lapses in care, a structured transition program is effective in lowering A1C, reducing severe hypoglycemia and emergency department utilization, and improving uptake of routine diabetes care. Loss to follow-up and psychosocial concerns remain significant challenges in this population.


Assuntos
Administração de Caso/organização & administração , Diabetes Mellitus Tipo 1/psicologia , Avaliação de Processos e Resultados em Cuidados de Saúde , Aceitação pelo Paciente de Cuidados de Saúde/estatística & dados numéricos , Transição para Assistência do Adulto/organização & administração , Adolescente , Doença Crônica/psicologia , Depressão , Diabetes Mellitus Tipo 1/terapia , Feminino , Humanos , Perda de Seguimento , Masculino , Ensaios Clínicos Controlados não Aleatórios como Assunto , Aceitação pelo Paciente de Cuidados de Saúde/psicologia , Desenvolvimento de Programas , Estudos Prospectivos , Qualidade de Vida , Inquéritos e Questionários , Adulto Jovem
4.
Diabetes Care ; 38(8): 1412-9, 2015 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-25906787

RESUMO

OBJECTIVE: To evaluate the efficacy of a structured transition program compared with usual care in improving routine follow-up, clinical, and psychosocial outcomes among young adults with type 1 diabetes. RESEARCH DESIGN AND METHODS: Eighty-one young adults in their last year of pediatric care were recruited from three clinics. Intervention group (IG) participants (n = 51) received a structured transition program incorporating tailored diabetes education, case management, group education classes, and access to a newly developed young adult diabetes clinic and transition website. Control group (CG) participants (n = 30) received usual care. The primary outcome was the number of routine clinic visits. Secondary outcomes included glycemic control, hypoglycemia, health care use, and psychosocial well-being. Assessments were conducted at baseline, and 6 and 12 months. RESULTS: Limitations in CG follow-up prevented direct comparisons of adult care visits; however, at the 12-month follow-up among IG participants discharged from pediatric care (n = 32), 78% had one or more adult visits. Among IG participants, the total number of clinic visits did not differ between those who transitioned and those who remained in pediatric care (3.0 ± 1.24 vs. 3.11 ± 0.94, P = 0.74). IG compared with CG participants had improved glycemic control (-0.40 ± 1.16% vs. 0.42 ± 1.51% [4.4 ± 12.7 mmol/mol vs. 4.6 ± 16.5 mmol/mol], P = 0.01), incidence of severe hypoglycemia (0.0% vs. 16%, P = 0.02), and global well-being (P = 0.02) at 12 months. CONCLUSIONS: A structured transition program was successful in facilitating transition to adult care without a decrease in clinical follow-up. Compared with usual care, the transition program facilitated improvements in glycemic control, hypoglycemia, and psychosocial well-being.


Assuntos
Diabetes Mellitus Tipo 1/terapia , Transição para Assistência do Adulto , Assistência Ambulatorial , Glicemia/análise , Administração de Caso , Diabetes Mellitus Tipo 1/sangue , Feminino , Humanos , Masculino , Avaliação de Programas e Projetos de Saúde , Estudos Prospectivos , Resultado do Tratamento , Adulto Jovem
5.
Diabetes Technol Ther ; 15(10): 855-8, 2013 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-23865840

RESUMO

BACKGROUND: Continuous glucose monitoring (CGM) has been shown to be a valuable tool to improve glycemic control in patients with diabetes. The objective of this pilot study was to develop and implement CGM in an existing diabetes clinic for low-income patients on multiple daily injections. SUBJECTS AND METHODS: This was a single-center, prospective, randomized controlled, crossover pilot study. Initial focus groups were held to create low-literacy, Spanish and English guides to the use of carbohydrate counting and CGM. These tools were implemented to train participants on carbohydrate counting and insulin adjustments participants. Subjects were then randomized to start in Group A (CGM) or Group B (self-monitoring blood glucose and then switched after 28 weeks). Hemoglobin A1c (HbA1c) was obtained at baseline and at the end of both study phases. RESULTS: Twenty-five economically challenged, primarily Latino participants with minimal prior education on intensive diabetes management completed the study. No significant reduction in HbA1c or decrease in time spent in parameters of low and high blood glucose was shown. However, eighty percent of participants who completed the study wanted to continue to use CGM once the research study was over. The participants also felt that the CGM made adjusting insulin easier. CONCLUSIONS: CGM can be implemented in patients from a low-income public clinic; however, HbA1c reduction was not achieved. Given the underlying lack of baseline self-management knowledge, a longer trial might be necessary to see benefit with CGM in this population.


Assuntos
Automonitorização da Glicemia , Diabetes Mellitus Tipo 1/sangue , Hemoglobinas Glicadas/metabolismo , Hipoglicemiantes/uso terapêutico , Monitorização Ambulatorial , Autocuidado , Adolescente , Adulto , Idoso , Glicemia/metabolismo , Automonitorização da Glicemia/economia , California/epidemiologia , Estudos Cross-Over , Diabetes Mellitus Tipo 1/tratamento farmacológico , Diabetes Mellitus Tipo 1/epidemiologia , Escolaridade , Grupos Focais , Acessibilidade aos Serviços de Saúde/economia , Acessibilidade aos Serviços de Saúde/estatística & dados numéricos , Humanos , Insulina/uso terapêutico , Masculino , Pessoa de Meia-Idade , Monitorização Ambulatorial/economia , Satisfação do Paciente , Projetos Piloto , Estudos Prospectivos
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