Article
Psychology, Developmental
Lisa Lestishock, Sandra Nova, Jennifer Disabato
Summary: The purpose of this project was to improve engagement of adolescents and young adults, as well as parents/caregivers, in the process of transitioning from pediatric to adult care using clinical readiness assessment tools and the Institute for Healthcare Improvement Model. Results showed improved readiness assessment scores among participants, as well as some improvements in the implementation of transition policies at the public health center, although patient portal enrollment did not meet the expected goal.
JOURNAL OF ADOLESCENT HEALTH
(2021)
Article
Pharmacology & Pharmacy
Nick S. R. Lan, Archna Bajaj, Gerald F. Watts, Marina Cuchel
Summary: Familial hypercholesterolaemia (FH) is a common genetic disorder characterized by elevated LDL-C levels and increased risk of ASCVD. Many patients with FH do not achieve LDL-C goals despite treatment with statins and ezetimibe. New therapies targeting PCSK9 and ANGPTL3 have shown promising results in closing the treatment gap. This review discusses current and emerging treatment strategies for FH and emphasizes the importance of risk-stratification and implementation strategies for patient care.
PHARMACOLOGICAL RESEARCH
(2023)
Article
Health Care Sciences & Services
Matthew Jones, Ralph K. Akyea, Katherine Payne, Steve E. Humphries, Hasidah Abdul-Hamid, Stephen Weng, Nadeem Qureshi
Summary: This study determines the cost-effectiveness of six case-finding strategies for screening of electronic health records to identify index patients who have genetically confirmed monogenic FH in English primary care. FAMCAT2 was found to be the most cost-effective screening approach.
JOURNAL OF PERSONALIZED MEDICINE
(2022)
Review
Endocrinology & Metabolism
Jordan Ross, Michelle R. Bowden, Christine Yu, Alicia Diaz-Thomas
Summary: With the advancements in diagnostic tools and therapies, children with metabolic bone diseases now have a better prognosis and longer lifespan. However, there is a lack of guidance on transitioning these patients into adulthood. This article aims to provide a review of research and guidelines for transitions of care in general and for specific bone disorders.
FRONTIERS IN ENDOCRINOLOGY
(2023)
Article
Cardiac & Cardiovascular Systems
Yaodong Wang, Jinchun He
Summary: This study aimed to analyze the correlation between overweight and obesity-related indicators and cardiovascular risk predictors in patients with familial hypercholesterolemia (FH) and to evaluate their mutual predictive properties.
FRONTIERS IN CARDIOVASCULAR MEDICINE
(2022)
Article
Medicine, General & Internal
Etienne Khoury, Diane Brisson, Nathalie Roy, Gerald Tremblay, Daniel Gaudet
Summary: This study identified female sex, high levels of high-density lipoprotein (HDL)-C, elevated concentrations of adiponectin, and non-smoking as important markers contributing to a reduced risk of cardiovascular disease (CVD) and cardiovascular event (CVE)-free survival in individuals with familial hypercholesterolemia (FH), beyond LDL-C levels.
JOURNAL OF CLINICAL MEDICINE
(2021)
Article
Medicine, General & Internal
Andrea Aparicio, Francisco Villazon, Lorena Suarez-Gutierrez, Juan Gomez, Ceferino Martinez-Faedo, Edelmiro Mendez-Torre, Pablo Avanzas, Rut alvarez-Velasco, Elias Cuesta-Llavona, Claudia Garcia-Lago, David Neuhalfen, Eliecer Coto, Rebeca Lorca
Summary: Familial hypercholesterolemia (FH) is a common genetic disorder associated with premature atherosclerotic cardiovascular (CV) disease (ASCVD). However, it is often not diagnosed correctly. Initiating lipid-lowering therapy (LLT) early in life can significantly reduce ASCVD risk in FH patients. Genetic testing can be useful in identifying FH.
JOURNAL OF CLINICAL MEDICINE
(2023)
Review
Biochemistry & Molecular Biology
Julia Krzeminska, Ewelina Mlynarska, Ewa Radzioch, Magdalena Wronka, Jacek Rysz, Beata Franczyk
Summary: Familial hypercholesterolemia (FH) is a commonly overlooked disease that leads to cardiovascular incidents through elevated LDL-C levels. In addition to conventional treatment options, there are new therapies available, with evinacumab being a promising drug for treatment.
Article
Peripheral Vascular Disease
Ming-Ming Liu, Jia Peng, Rui-Xia Xu, Yuan-Lin Guo, Cheng-Gang Zhu, Na-Qiong Wu, Jian-Jun Li
Summary: This study aimed to investigate the impact of hypertension on the severity of coronary artery atherosclerosis and cardiovascular outcomes in patients with heterozygous familial hypercholesterolemia (HeFH). The results showed that patients with hypertension had more severe coronary stenosis and a higher incidence of cardiovascular events. Furthermore, the control of blood pressure in patients with hypertension was associated with worse outcomes.
JOURNAL OF HYPERTENSION
(2022)
Article
Cardiac & Cardiovascular Systems
Clara Marquina, Jedidiah Morton, Tom Brett, Melanie Lloyd, Jan Radford, Clare Heal, Charlotte Hespe, Gerard Gill, David Sullivan, Ella Zomer, Ian Li, Jing Pang, Gerald F. Watts, Zanfina Ademi
Summary: This study evaluated the cost-effectiveness and return on investment of an enhanced model of care for familial hypercholesterolemia in primary care in Australia. The results showed that this model was associated with higher life years gained and quality-adjusted life years compared to standard care, and it was cost-effective from both healthcare and societal perspectives.
CIRCULATION-GENOMIC AND PRECISION MEDICINE
(2023)
Review
Biochemistry & Molecular Biology
Juan Pedro-Botet, Elisenda Climent, David Benaiges
Summary: CVD in HeFH is driven by LDL cholesterol concentrations, but other classical risk factors also contribute to the high cardiovascular risk. Alterations in the phenotype and functionality of HDL particles in HeFH patients are also associated with the presence and severity of CVD.
Article
Pediatrics
Glynnis A. McDonnell, Beth N. Peshkin, Tiffani A. DeMarco, Susan K. Peterson, Banu K. Arun, Susan Miesfeldt, Suzanne C. O'Neill, Katherine Schneider, Judy Garber, Claudine Isaacs, George Luta, Kenneth P. Tercyak
Summary: The long-term effects of disclosing maternal BRCA1 status on children's lifestyle behavior and quality of life were found to be minimal. However, children of BRCA1 mothers showed greater awareness and interest in genetic risk information. These families may benefit from support to promote open communication regarding genetic testing choices.
Article
Medicine, General & Internal
Antonio Gallo, Philippe Giral, David Rosenbaum, Alessandro Mattina, Ali Kilinc, Alain Giron, Khaoula Bouazizi, Moussa Gueda Moussa, Joe-Elie Salem, Alain Carrie, Valerie Carreau, Sophie Beliard, Randa Bittar, Philippe Cluzel, Eric Bruckert, Alban Redheuil, Nadjia Kachenoura
Summary: The study revealed early changes in myocardial tissue characteristics in patients with Familial Hypercholesterolemia (FH), suggesting the need for further research to better understand and prevent the underlying pathophysiological processes.
Article
Cardiac & Cardiovascular Systems
Martine Paquette, Manon Fantino, Sophie Bernard, Alexis Baass
Summary: This study compared the incidence of cardiovascular events between patients with maternal vs paternal inheritance of familial hypercholesterolemia, finding that paternal inheritance was associated with a higher risk of ASCVD before the age of 50 and an earlier onset of ASCVD events compared to maternal inheritance. The mechanisms behind these findings remain to be established.
Article
Cardiac & Cardiovascular Systems
Elena Olmastroni, Marta Gazzotti, Maurizio Averna, Marcello Arca, Patrizia Tarugi, Sebastiano Calandra, Stefano Bertolini, Alberico L. Catapano, Manuela Casula
Summary: This study aimed to determine the prevalence of LPA risk variants in adult individuals with familial hypercholesterolemia (FH) in Italy. The study found that a portion of FH patients had high lp(a) levels, which could not be explained by monogenic or polygenic causes. It suggests the importance of measuring lp(a) levels in diagnosing FH and excluding other factors that may contribute to the phenotype before performing genetic tests.
JOURNAL OF THE AMERICAN HEART ASSOCIATION
(2023)
Article
Pharmacology & Pharmacy
Thomas I. Mackie, Lisa L. Tse, Sarah D. de Ferranti, Heather R. Ryan, Laurel K. Leslie
JOURNAL OF CLINICAL LIPIDOLOGY
(2015)
Article
Health Care Sciences & Services
Stephen Crystal, Thomas Mackie, Miriam C. Fenton, Shahla Amin, Sheree Neese-Todd, Mark Olfson, Scott Bilder
Article
Psychology, Developmental
Holly C. Gooding, R. Christopher Sheldrick, Laurel K. Leslie, Supriya Shah, Sarah D. de Ferranti, Thomas I. Mackie
JOURNAL OF ADOLESCENT HEALTH
(2016)
Article
Health Care Sciences & Services
Tully Saunders, Thomas I. Mackie, Supriya Shah, Holly Gooding, Sarah D. de Ferranti, Laurel K. Leslie
JOURNAL OF COMPARATIVE EFFECTIVENESS RESEARCH
(2016)
Article
Health Care Sciences & Services
Thomas I. Mackie, Radley C. Sheldrick, Sarah D. de Ferranti, Tully Saunders, Erick G. Rojas, Laurel K. Leslie
Review
Health Care Sciences & Services
Ayse Akincigil, Thomas I. Mackie, Sharon Cook, Robert J. Hilt, Stephen Crystal
HEALTH SERVICES RESEARCH
(2020)
Review
Psychology, Developmental
Thomas Mackie, Ana J. Schaefer, Hannah E. Karpman, Stacey M. Lee, Christopher Bellonci, Justine Larson
Summary: This systematic review assessed the evidence base and relative merits of system-wide interventions aimed at improving antipsychotic treatment and management for children and adolescents. Evaluations of prior authorization programs showed reductions in antipsychotic treatment, but limited evidence was found for the impact of other system-wide interventions and outcomes. Additional research is needed to investigate the influence of interventions on antipsychotic prescribing, comparative effectiveness, functional outcomes, and potential unintended consequences.
JOURNAL OF THE AMERICAN ACADEMY OF CHILD AND ADOLESCENT PSYCHIATRY
(2021)
Article
Health Care Sciences & Services
Thomas Mackie, Katherine M. Kovacs, Cassandra Simmel, Stephen Crystal, Sheree Neese-Todd, Ayse Akincigil
Summary: The study used best-worst scaling experiment to identify the most important claims-based outcomes in evaluating pediatric antipsychotic monitoring programs. Safety indicators were highly prioritized by respondents, supporting the need to diversify metrics to include safety and quality indicators in future studies to align with community preferences.
HEALTH SERVICES RESEARCH
(2021)
Article
Health Care Sciences & Services
Thomas I. Mackie, Ana J. Schaefer, Justeen K. Hyde, Laurel K. Leslie, Emily A. Bosk, Brittany Fishman, R. Christopher Sheldrick
Summary: Calls have been made for greater application of decision sciences in mental health policy and practice. This article proposes a novel method called "decision sampling" to investigate decision-making and research evidence use. A case study applying this framework revealed decision-making processes of mid-level administrators in developing interventions for children entering foster care.
IMPLEMENTATION SCIENCE
(2021)
Article
Health Policy & Services
Thomas Mackie, Ana J. Schaefer, John S. Palatucci, Laurel K. Leslie, Stephen Crystal, Michael Gusmano, Hannah E. Karpman
Summary: Active participation of youth and surrogate decision-makers in providing informed consent and assent for mental health treatment is critical. However, the procedural elements of an informed consent process, particularly for youth in child welfare custody, are not well defined. This study proposes a taxonomy for the procedural elements of informed consent policies based on child welfare policies and examines whether state formal policies endorse these elements. The findings suggest a need for further research and consensus to set best practices and guide policymakers in improving transparency and accountability for informed consent of mental health treatment among youth in child welfare custody.
ADMINISTRATION AND POLICY IN MENTAL HEALTH AND MENTAL HEALTH SERVICES RESEARCH
(2022)
Article
Health Policy & Services
Thomas I. Mackie, Justeen Hyde, Lawrence A. Palinkas, Emily Niemi, Laurel K. Leslie
ADMINISTRATION AND POLICY IN MENTAL HEALTH AND MENTAL HEALTH SERVICES RESEARCH
(2017)
Article
Social Work
Lawrence A. Palinkas, Antonio R. Garcia, Gregory A. Aarons, Megan Finno-Velasquez, Ian W. Holloway, Thomas I. Mackie, Laurel K. Leslie, Patricia Chamberlain
RESEARCH ON SOCIAL WORK PRACTICE
(2016)
Article
Health Policy & Services
Justeen K. Hyde, Thomas I. Mackie, Lawrence A. Palinkas, Emily Niemi, Laurel K. Leslie
ADMINISTRATION AND POLICY IN MENTAL HEALTH AND MENTAL HEALTH SERVICES RESEARCH
(2016)
Article
Family Studies
Thomas I. Mackie, R. Christopher Sheldrick, Justeen Hyde, Laurel K. Leslie