Article
Cardiac & Cardiovascular Systems
Sara K. Swanson, Kurt R. Schumacher, Richard G. Ohye, Jeffrey D. Zampi
Summary: Patients with trisomy 13 and 18 undergoing cardiac surgery have an increased incidence of postoperative airway and pulmonary complications, leading to longer hospital stays. Discussions regarding postoperative airway management should be included in parental guidance before surgery.
JOURNAL OF THORACIC AND CARDIOVASCULAR SURGERY
(2021)
Article
Obstetrics & Gynecology
Amanda J. H. Kim, Mayme Marshall, Ladawna Gievers, Tyler Tate, Sara Taub, Stephanie Dukhovny, Christina Ronai, Erin J. Madriago
Summary: This study aims to provide a patient-centered counseling approach for families facing a diagnosis of T13/T18. Through multidisciplinary collaboration, we successfully established a patient-centered approach, which can be used as a model for other institutions to develop their own standardized approach.
AMERICAN JOURNAL OF PERINATOLOGY
(2023)
Article
Cardiac & Cardiovascular Systems
Meaghann S. Weaver, John Lantos, Kelly Hauschild, James Hammel, Nicole Birge, Annie Janvier
Summary: Individual assessment is recommended for cardiac surgical interventions in children with trisomy 13 or 18, based on review of goals, assessment of comorbidities, and literature-informed practice. Coordinated care planning and interdisciplinary communication are crucial in cardiac surgical considerations for children with these underlying genetic conditions.
CARDIOLOGY IN THE YOUNG
(2021)
Article
Genetics & Heredity
Sue L. L. Jaspersen, Deborah A. A. Bruns, Meghan S. S. Candee, Agatino Battaglia, John C. C. Carey, Kristen P. P. Fishler
Summary: Changes in medical intervention over the last decade have improved outcomes for individuals with trisomy 18. This study focuses on the occurrence, course, and management of seizures in individuals with trisomy 18 based on parent-reported data. 28% of participants in the study experienced seizures at some point in their lifetime, and for many, seizures were effectively managed with anti-seizure medications. The study suggests that electroencephalogram testing should be included in the screening approach for early diagnosis and treatment of seizures, and an international registry could aid further research and clinical trials.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2023)
Article
Cardiac & Cardiovascular Systems
John P. Cleary, Annie Janvier, Barbara Farlow, Meaghann Weaver, James Hammel, John Lantos
Summary: This report is based on the discussions at the Fifth International Conference of the Neonatal Heart Society, focusing on the management and family support of patients with trisomy 13/18. While previous beliefs considered these conditions as lethal, the experiences shared by family support groups suggest that some patients can benefit from surgery, prolonging survival and improving quality of life. Therefore, it is recommended to provide a balanced approach to interventions, considering both comfort care and surgery. Families and clinicians should be supported and empowered to make the best decisions for their children and patients.
WORLD JOURNAL FOR PEDIATRIC AND CONGENITAL HEART SURGERY
(2022)
Article
Biochemistry & Molecular Biology
Po-Yen Kuo, Kai-Fan Tsai, Po-Jung Wu, Pai-Chin Hsu, Chien-Hsing Wu, Wen-Chin Lee, Hsiu-Yu Fang, Chih-Yuan Fang, Sheng-Ying Chung, Yung-Lung Chen, Terry Ting-Yu Chiou
Summary: Patients undergoing cardiac catheterization have a high risk of developing acute kidney injury (AKI) and subsequent acute kidney disease (AKD). This study aimed to evaluate the association between AKD and urinary renal biomarkers in this population. Serial measurements of urinary renal biomarkers were obtained from 94 patients during different post-procedure periods. Results showed that 42.55% of the patients developed AKD during the late post-procedure period. Early changes in urinary interleukin-18 and gelsolin levels were independently associated with subsequent AKD.
Review
Medicine, Research & Experimental
Rishi Kant Singh, Sanjay Kumar, Sandeep Kumar, Alok Shukla, Naveen Kumar, Anand Kumar Patel, Lokesh Kumar Yadav, Meera Kaushalendra, Meera Antiwal, Arbind Acharya
Summary: PKCa is a multitasking molecule that is crucial for cell survival and maintaining cellular homeostasis. Alterations in its normal functioning contribute to the development of various diseases such as cancer, cardiovascular diseases, kidney complications, neurodegenerative diseases, and diabetes. Numerous studies have been conducted to understand the roles and regulation of PKCa in physiological and pathological conditions, leading to a complex framework of its implications that require further investigation. This review critically examines the diverse functions and molecular mechanisms of PKCa in basic cellular processes during pathological conditions, and proposes PKCa as a potential therapeutic target for reversing pathological states.
Editorial Material
Health Care Sciences & Services
Sydney Ariagno, Megan Thorvilson, Lezlie Andersen, Christopher Collura
Summary: Central apnea is a leading cause of death in neonates with trisomy 18 (T18), similar to the mechanism in apnea of prematurity. Caffeine, although traditionally used for apnea of prematurity, was successfully trialed in an infant with T18 to reduce central apnea events, allowing for safe transport and quality time at home before her passing.
JOURNAL OF PALLIATIVE MEDICINE
(2022)
Article
Oncology
Elizabeth Chen, Lisa Hackney, Kristen VanHeyst, Eiichi A. Miyasaka
Summary: Trisomy 18 is associated with congenital malformations including horseshoe kidney, and patients are at greater risk of developing tumors such as Wilms tumor.
JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY
(2023)
Editorial Material
Psychology, Clinical
Harald Baumeister, David D. Ebert, Frank Snoek
Summary: Chronic medical conditions are becoming more common, and digital health interventions can effectively support patients in coping and self-management. This special issue summarizes core findings and discusses the next steps in research, emphasizing the importance of avoiding duplication.
INTERNET INTERVENTIONS-THE APPLICATION OF INFORMATION TECHNOLOGY IN MENTAL AND BEHAVIOURAL HEALTH
(2022)
Review
Critical Care Medicine
Geoffroy Hariri, Lucie Collet, Lucie Duarte, Guillaume L. Martin, Matthieu Resche-Rigon, Guillaume Lebreton, Adrien Bougle, Agnes Dechartres
Summary: This study assessed the effectiveness of non-pharmacological interventions in reducing the incidence of cardiac surgery-associated acute kidney injury (CSA-AKI). The results showed that goal-directed perfusion and remote ischemic preconditioning may be effective in reducing CSA-AKI incidence, while the application of pulsatile flow during cardiopulmonary bypass may also be beneficial but with lower quality of evidence.
Article
Pediatrics
Yu-Nan Huang, Jing-Yang Huang, Chung-Hsing Wang, Pen-Hua Su
Summary: This study aimed to compare the 10-year incidence of cardiac, renal, and urinary tract complications in individuals with Down syndrome and matched controls. The results showed that individuals with Down syndrome had higher risks of ischemic heart disease, hypertension, hypothyroidism, epilepsy, urinary tract infections, and chronic kidney disease compared to the controls.
Article
Education, Special
Emily K. Schworer, Ameena Ahmed, Lori Hogenkamp, Shelby Moore, Anna J. Esbensen
Summary: This study aimed to examine the association between medical conditions and cognition, language, and behavior in children and adolescents with Down syndrome. The results showed that participants with gastrointestinal issues had significantly more challenges with social behaviors, maladaptive behaviors, and executive function compared to those without gastrointestinal issues.
RESEARCH IN DEVELOPMENTAL DISABILITIES
(2022)
Editorial Material
Cardiac & Cardiovascular Systems
Santabhanu Chakrabarti, Jennifer A. Gibson, Matthew T. Bennett, Mustafa Toma, Ankush T. Verma, Rudy Chow, Laurel Plewes, Calum J. Redpath, Blandine Mondesert, Lawrence Sterns, Andrew D. Krahn
Summary: The Medical Assistance in Dying program in Canada is expanding, raising discussions on the standardization of cardiac device management for potential recipients. This is important to address ethical concerns and complexity in management at end-of-life stages.
CANADIAN JOURNAL OF CARDIOLOGY
(2021)
Article
Education, Special
A. J. Esbensen, L. B. Vincent, J. N. Epstein, K. Kamimura-Nishimura, S. Wiley, K. Angkustsiri, L. Abbeduto, D. Fidler, J. S. Anixt, T. E. Froehlich
Summary: The study examined differences among children with DS with or without ADHD symptomatology in terms of demographics, developmental level, co-occurring medical conditions, and parent and teacher ratings of behavior and executive functioning. Children with DS and ADHD symptoms had higher rates of co-occurring medical conditions and poorer performance on behavior ratings compared to those without ADHD symptoms. The different patterns of group differences between parent-report and teacher-report have implications for diagnostic practices and treatment.
JOURNAL OF INTELLECTUAL DISABILITY RESEARCH
(2022)