Objective: Investigate the frequency of 22q11 deletion syndrome among patients with complex congenital heart disease.
Methods: A prospective and consecutive cohort of patients with complex heart defects was evaluated in their first hospitalization at a cardiac intensive care unit of a pediatric hospital. For each patient a protocol of demographic and clinical evaluation was filled. High resolution karyotype and 22q11 microdeletion by fluorescence in situ hybridization was investigated. The heart defects were classified by a cardiologist of the study.
Results: The cohort comprised 66 patients. Karyotypic anomalies were observed in 5 patients (7.6%), however none of those was the 22q11 deletion. Evaluation by means of FISH was successful in 65 patients and 22q11 microdeletion was identified in 2 (3.1%). Of the 66 patients with complex defects, 52 were carriers of conotruncal malformations and in 51 the 22q11 microdeletion analysis by FISH was successful. Both 22q11 microdeletion carriers belonged to this group, representing a frequency of 3.9%. They presented tetralogy of Fallot.
Conclusion: 22q11DS is a frequent abnormality among patients with complex and conotruncal heart defects. Variations of the 22q11DS frequency among studies seem to be mainly associated to criteria for patient selection and specific characteristics of the population in analysis.
Download full-text PDF |
Source |
|---|
Publication Analysis
Top Keywords
Similar Publications
Perspectives on Swedish Regulations for Online Record Access Among Adolescents With Serious Health Issues and Their Parents: Mixed Methods Study.
JMIR Pediatr Parent
January 2025
Participatory eHealth and Health Data Research Group, Department of Women's and Children's Health, Uppsala University, Uppsala, Sweden.
Background: With the increasing implementation of patient online record access (ORA), various approaches to access to minors' electronic health records have been adopted globally. In Sweden, the current regulatory framework restricts ORA for minors and their guardians when the minor is aged between 13 and 15 years. Families of adolescents with complex health care needs often desire health information to manage their child's care and involve them in their care.
View Article and Find Full Text PDFMass Casualty Incident Training in Immersive Virtual Reality: Quasi-Experimental Evaluation of Multimethod Performance Indicators.
J Med Internet Res
January 2025
Psychological Institute and Network Aging Research, Heidelberg University, Heidelberg, Germany.
Background: Immersive virtual reality (iVR) has emerged as a training method to prepare medical first responders (MFRs) for mass casualty incidents (MCIs) and disasters in a resource-efficient, flexible, and safe manner. However, systematic evaluations and validations of potential performance indicators for virtual MCI training are still lacking.
Objective: This study aimed to investigate whether different performance indicators based on visual attention, triage performance, and information transmission can be effectively extended to MCI training in iVR by testing if they can discriminate between different levels of expertise.
Dural perforation and life-threatening central nervous system complications associated with septic arthritis of the lumbar facet joint: illustrative case.
J Neurosurg Case Lessons
January 2025
Department of Orthopedic Surgery, Iwate Medical University, Shiwa-gun, Iwate Prefecture, Japan.
Background: Septic arthritis of the lumbar facet joint (SALFJ) is a rare condition that can lead to serious complications. The authors present an uncommon case in which SALFJ resulted in bacterial meningitis (BM) with hydrocephalus and pyogenic ventriculitis, causing a disturbance of consciousness. Reports describing perforation of the dura mater by an epidural abscess are rare, and the present case offers valuable insights into the management of complex and severe complications arising from SALFJ.
View Article and Find Full Text PDFFactors Influencing Telemedicine Adoption Among Health Care Professionals: Qualitative Interview Study.
JMIR Form Res
January 2025
Center for Management, University of Münster, Münster, Germany.
Background: Telemedicine is transforming health care by enabling remote diagnosis, consultation, and treatment. Despite rapid adoption during the COVID-19 pandemic, telemedicine uptake among health care professionals (HCPs) remains inconsistent due to perceived risks and lack of tailored policies. Existing studies focus on patient perspectives or general adoption factors, neglecting the complex interplay of contextual variables and trust constructs influencing HCPs' telemedicine adoption.
View Article and Find Full Text PDFPatients with anterior cruciate ligament reconstruction frequently present asymmetries in the sagittal plane dynamics when performing single leg jumps but their assessment is inaccessible to health-care professionals as it requires a complex and expensive system. With the development of deep learning methods for human pose detection, kinematics can be quantified based on a video and this study aimed to investigate whether a relatively simple 2D multibody model could predict relevant dynamic biomarkers based on the kinematics using inverse dynamics. Six participants performed ten vertical and forward single leg hops while the kinematics and the ground reaction force "GRF" were captured using an optoelectronic system coupled with a force platform.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!