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1.
Genet Med ; 23(5): 927-933, 2021 05.
Artigo em Inglês | MEDLINE | ID: mdl-33500570

RESUMO

PURPOSE: Cystic fibrosis (CF), caused by pathogenic variants in the CF transmembrane conductance regulator (CFTR), affects multiple organs including the exocrine pancreas, which is a causal contributor to cystic fibrosis-related diabetes (CFRD). Untreated CFRD causes increased CF-related mortality whereas early detection can improve outcomes. METHODS: Using genetic and easily accessible clinical measures available at birth, we constructed a CFRD prediction model using the Canadian CF Gene Modifier Study (CGS; n = 1,958) and validated it in the French CF Gene Modifier Study (FGMS; n = 1,003). We investigated genetic variants shown to associate with CF disease severity across multiple organs in genome-wide association studies. RESULTS: The strongest predictors included sex, CFTR severity score, and several genetic variants including one annotated to PRSS1, which encodes cationic trypsinogen. The final model defined in the CGS shows excellent agreement when validated on the FGMS, and the risk classifier shows slightly better performance at predicting CFRD risk later in life in both studies. CONCLUSION: We demonstrated clinical utility by comparing CFRD prevalence rates between the top 10% of individuals with the highest risk and the bottom 10% with the lowest risk. A web-based application was developed to provide practitioners with patient-specific CFRD risk to guide CFRD monitoring and treatment.


Assuntos
Fibrose Cística , Diabetes Mellitus , Biomarcadores , Canadá , Fibrose Cística/complicações , Fibrose Cística/diagnóstico , Fibrose Cística/genética , Regulador de Condutância Transmembrana em Fibrose Cística/genética , Diabetes Mellitus/epidemiologia , Diabetes Mellitus/genética , Estudo de Associação Genômica Ampla , Humanos , Recém-Nascido
2.
Neurol Sci ; 42(7): 2911-2919, 2021 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-33222103

RESUMO

RATIONALE: The activation of the glucagon-like peptide-1 receptor (GLP-1R) has been purported to have antidepressant-like and cognitive-enhancing effects. Many people suffering from major depressive disorder (MDD) also experience deficits in cognition. While currently approved antidepressant pharmacotherapies can alleviate the mood symptoms in some patients, they do not treat the cognitive ones. OBJECTIVES: We tested whether systemic administration of a GLP-1R agonist would alter location discrimination, a cognitive task that is diminished in humans with MDD. METHODS: Male and female laboratory mice (6-8 weeks old, N = 6-14/sex) were trained in a touchscreen operant task of location discrimination. Upon reaching baseline criterion, mice were administered vehicle or a GLP-1R agonist, Exendin-4, systemically prior to testing in probe trials of varying difficulty. RESULTS: Following GLP-1R activation, males showed modest yet non-significant performance in the location discrimination task. Females, however, showed enhanced performance during the most difficult probe tests following Exendin-4 administration. CONCLUSIONS: GLP-1R activation appears to enhance overall performance in the location discrimination task and does so in a sex- and difficulty-dependent manner. These preliminary yet impactful data indicate that GLP-1R agonists may be useful as an adjunctive pharmacotherapy to treat cognitive deficits associated with MDD and/or multiple neurological disorders.


Assuntos
Disfunção Cognitiva , Transtorno Depressivo Maior , Receptor do Peptídeo Semelhante ao Glucagon 1/metabolismo , Fatores Sexuais , Animais , Cognição , Exenatida , Feminino , Humanos , Masculino , Camundongos
3.
J Extra Corpor Technol ; 50(3): 149-154, 2018 09.
Artigo em Inglês | MEDLINE | ID: mdl-30250340

RESUMO

The objectives of this study were to investigate the correlation between thromboelastography (TEG) and conventional measures of anticoagulation, and to determine optimum values for citrated kaolin TEG R time (TEG RCK) and anti-Xa activity that would minimize both bleeding and thrombotic complications in pediatric and neonatal patients requiring extracorporeal membranous oxygenation (ECMO). A retrospective chart review of patients requiring veno-venous (VV) and venoarterial (VA) ECMO was performed. Combined medical and cardiac ICU within a single-center, tertiary care, freestanding, children's hospital. Non-pregnant patients <18 years and >2 kilograms requiring VV or VA ECMO from July 2013 through July 2015. Anti-Xa (OR = 0.62, 95% CI 0.53-0.72, p < .001) and TEG RCK (OR = 1.19, 95% CI 1.07-1.34, p = .003) were the only independent predictors for a significant thrombotic event. Receiver operating characteristic curves and traditional epidemiological data (sensitivity, specificity, PPV, NPV) were used to determine optimal target Anti-Xa and TEG RCK values. No independent predictors for significant bleeding events were identified in this cohort. A anti-Xa activity of .25 IU/mL (sensitivity = 81%, specificity = 67%, PPV = 81%, NPV = 58%) and TEG RCK time of 17.85 minutes (sensitivity = 84%, specificity = 68%, PPV = 82%, NPV = 59%) were established as the optimal thresholds for preventing thrombotic events. Anti-Xa and TEG RCK were independent predictors of thrombosis in this cohort of pediatric and neonatal ECMO patients. Targeting an anti-Xa activity greater than .25 IU/mL and a TEG RCK greater than 17.85 minutes may minimize the risk of thrombosis in pediatric and neonatal ECMO patients. Future investigation should evaluate targets for anti-Xa and TEG RCK, which additionally minimize the risk of significant bleeding in this patient population.


Assuntos
Oxigenação por Membrana Extracorpórea/efeitos adversos , Tromboelastografia/estatística & dados numéricos , Trombose/diagnóstico , Trombose/prevenção & controle , Anticoagulantes/uso terapêutico , Pré-Escolar , Feminino , Heparina/uso terapêutico , Humanos , Masculino , Complicações Pós-Operatórias/diagnóstico , Complicações Pós-Operatórias/tratamento farmacológico , Complicações Pós-Operatórias/prevenção & controle , Estudos Retrospectivos , Trombose/tratamento farmacológico
5.
J Palliat Med ; 26(9): 1217-1224, 2023 09.
Artigo em Inglês | MEDLINE | ID: mdl-37093219

RESUMO

Background/Objectives: The aim of this study is to describe the current state of end-of-life (EOL) care education within pediatric critical care medicine (PCCM) fellowship programs and explore potential differences in beliefs on EOL care education between program directors (PDs) and fellows. Design: A mixed-methods study based on data obtained through a nationally distributed, web-based cross-sectional survey of PCCM fellowship PDs and PCCM fellows was performed. Setting: Accreditation Council for Graduate Medical Education (ACGME)-accredited PCCM fellowships in the United States. Subjects: PCCM fellows and PDs participated in this study. Measurements and Results: The total number of survey respondents was 124 (94/654 fellows and 30/96 PDs), representing 39% of ACGME-accredited PCCM programs. Bedside teaching and lecture-based modalities were the most commonly used methods to teach EOL care. Most fellows and PDs reported a perceived need for additional EOL education within their respective training programs (fellows 91%, n = 86/94; PDs 67%, n = 20/30). A thematic analysis of curriculum structure questions revealed significant similarities between PDs and fellows, including the perceived need for education in communication, medical management, and cultural awareness. Dealing with uncertainty and resiliency were identified as themes among PDs only, and emotional/moral and legal issues were identified as themes solely by fellows. Conclusions: Our study describes the current state of EOL care education within a sample of PCCM fellowship programs. We highlight the perceived need for additional EOL education and identify areas within EOL care that deserve more focus by PCCM fellows and PDs. Future studies with focus on EOL curriculum development in PCCM EOL training are needed.


Assuntos
Bolsas de Estudo , Assistência Terminal , Criança , Humanos , Estados Unidos , Estudos Transversais , Atitude do Pessoal de Saúde , Currículo , Educação de Pós-Graduação em Medicina , Inquéritos e Questionários , Cuidados Críticos
6.
Pediatrics ; 148(6)2021 12 01.
Artigo em Inglês | MEDLINE | ID: mdl-34814176

RESUMO

BACKGROUND AND OBJECTIVES: Cystic fibrosis (CF) screen-positive infants with an inconclusive diagnosis (CFSPID) are infants in whom sweat testing and genetic analysis does not resolve a CF diagnosis. Lack of knowledge about the health outcome of these children who require clinical follow-up challenges effective consultation. Early predictive biomarkers to delineate the CF risk would allow a more targeted approach to these children. METHODS: Prospective, longitudinal, multicenter, Canada-wide cohort study of CF positive-screened newborns with 1 to 2 cystic fibrosis transmembrane conductance regulator gene variants, of which at least 1 is not known to be CF-causing and/or a sweat chloride between 30 and 59 mmol/L. These were monitored for conversion to a CF diagnosis, pulmonary, and nutritional outcomes. RESULTS: The mean observation period was 7.7 (95% confidence interval 7.1 to 8.4) years. A CF diagnosis was established for 24 of the 115 children with CFSPID (21%) either because of reinterpretation of the cystic fibrosis transmembrane conductance regulator genotype or because of increase in sweat chloride concentration ≥60 mmol/L. An initial sweat chloride of ≥40 mmol/l predicted conversion to CF on the basis of sweat testing. The 91 remaining children with CFSPID were pancreatic sufficient and showed normal growth until school age. Pulmonary function as well as lung clearance index in a subgroup of children with CFSPID were similar to that of healthy controls. CONCLUSIONS: Children with CFSPID have good nutritional and pulmonary outcomes at school age, but rates of reclassifying the diagnosis are high. The initial sweat chloride test can be used as a biomarker to predict the risk for CF in CFSPID.


Assuntos
Regulador de Condutância Transmembrana em Fibrose Cística/genética , Fibrose Cística/diagnóstico , Fatores Etários , Biomarcadores , Canadá , Criança , Cloretos/análise , Estudos de Coortes , Intervalos de Confiança , Fibrose Cística/genética , Fibrose Cística/fisiopatologia , Feminino , Variação Genética , Genótipo , Humanos , Recém-Nascido , Estudos Longitudinais , Masculino , Triagem Neonatal , Estado Nutricional , Testes de Função Pancreática , Estudos Prospectivos , Valores de Referência , Testes de Função Respiratória , Suor/química , Tripsinogênio/imunologia
7.
J Pediatr Intensive Care ; 6(4): 234-239, 2017 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-31073456

RESUMO

When confounding variables exist that inhibit the ability to diagnose brain death clinically in pediatric patients, ancillary tests may provide additional information for the practitioner in evaluating for the presence or absence of brain death. Multiple options exist but differ in availability, ease of administration, cost, safety profile, and reliability to accurately diagnose brain death. An important desirable quality of an ancillary test is eliminating false positives, which imply brain death when brain death is in fact not present. More commonly available ancillary studies include electroencephalograms, brain angiography through various modalities, brain stem auditory evoked potentials, and transcranial Doppler ultrasound. At this time, there is not an ancillary test with 100% reliability in diagnosing brain death that can replace the clinical brain death exam. Therefore, practitioners need to understand the strengths and limitations of the ancillary studies available at their hospital.

8.
Curr Womens Health Rep ; 3(4): 340-7, 2003 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-12844460

RESUMO

In this paper, the current knowledge and recent literature on the epidemiology of urinary incontinence are examined. The populations discussed include community-dwelling women and institutionalized women. This review includes discussions of the prevalence of urinary incontinence with age, the prevalence of the types and severity of urinary incontinence, the variations with racial and ethnic differences, and the risk factors proposed for urinary incontinence. The theories behind the currently recognized risk factors and the recent literature supporting or refuting them are analyzed. Because of an abundance of studies, only a small fraction is represented in this paper, but we attempted to emphasize high-quality and larger population studies.


Assuntos
Incontinência Urinária/epidemiologia , Saúde da Mulher , Adulto , Distribuição por Idade , Idoso , Comorbidade , Feminino , Humanos , Histerectomia/estatística & dados numéricos , Remoção/efeitos adversos , Masculino , Menopausa/fisiologia , Pessoa de Meia-Idade , Obesidade/epidemiologia , Gravidez , Complicações na Gravidez/epidemiologia , Prevalência , Fatores de Risco , Distribuição por Sexo , Estados Unidos/epidemiologia , Incontinência Urinária/classificação
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