№ files_lp_4_process_3_114198
File format: docx Character count: 3031 File size: 22 KB
Year: 2018–2019
Region / City: Not specified
Topic: Myhre syndrome, congenital heart defects, genetics
Document type: Case report / Clinical study table
Institution: Not specified
Authors: Alagia et al., Meerschaut et al.
Target audience: Clinicians, geneticists, researchers
Number of patients: 7 (5 new, 2 previously reported)
Gender distribution: 3 female, 4 male
Age range: 5–21 years (1 deceased at 17)
Genetic analysis method: Targeted gene testing, exome sequencing
Variants identified: p.Ile500Val, p.Arg496Cys
Inheritance pattern: De novo 5/6, inherited 1/6
Key clinical features: Low birth weight, short stature, developmental delays, dysmorphic features, joint stiffness, eye abnormalities
Additional anomalies: Duodenal stenosis, spinal canal stenosis, delayed menarche, overlapping toes
Assessment: Physical measurements, neuropsychological evaluation, hearing and vision assessment
Summary: Table-based clinical and genetic data documenting phenotypic features, growth metrics, developmental status, and genetic variants of patients with Myhre syndrome and tetralogy of Fallot.
Price: 8 / 10 USD
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Cardiac MRI Reporting Framework for Tetralogy of Fallot Studies (SCMR Guidelines, JCMR 2024; 26(2):101062)
Subject: Cardiac magnetic resonance imaging in Tetralogy of Fallot
Document type: Structured clinical reporting format
Medical field: Cardiology / Cardiovascular imaging
Imaging modality: Cardiac MRI
Related guideline: SCMR Reporting Guidelines (JCMR 2024; 26(2):101062)
Clinical condition: Tetralogy of Fallot
Sections: General Information; General Techniques; Findings
Patient information included: Demographics, identifiers, clinical indication, vital parameters
Imaging parameters: Scanner manufacturer, field strength, acquisition methods, imaging sequences
Contrast and medications: Contrast agent administration, sedation, additional medications
Anatomical assessment: Cardiac position, segmental anatomy, venous and arterial structures
Cardiac structures evaluated: Atria, ventricles, septum, valves, outflow tracts, pulmonary arteries, aorta, coronary arteries, pericardium
Functional assessment: Ventricular size and function, wall motion, regurgitation, flow ratios (Qp:Qs)
Advanced imaging evaluation: T1/T2 mapping, myocardial perfusion, late gadolinium enhancement, 4D flow imaging
Associated findings: Pleural effusion, pulmonary venous anomalies, vascular stenosis or dilation
Cardiac MRI Reporting Framework for Tetralogy of Fallot Studies (SCMR Guidelines, JCMR 2024; 26(2):101062)
Subject: Cardiac magnetic resonance imaging in Tetralogy of Fallot
Document type: Structured clinical reporting format
Medical field: Cardiology / Cardiovascular imaging
Imaging modality: Cardiac MRI
Related guideline: SCMR Reporting Guidelines (JCMR 2024; 26(2):101062)
Clinical condition: Tetralogy of Fallot
Sections: General Information; General Techniques; Findings
Patient information included: Demographics, identifiers, clinical indication, vital parameters
Imaging parameters: Scanner manufacturer, field strength, acquisition methods, imaging sequences
Contrast and medications: Contrast agent administration, sedation, additional medications
Anatomical assessment: Cardiac position, segmental anatomy, venous and arterial structures
Cardiac structures evaluated: Atria, ventricles, septum, valves, outflow tracts, pulmonary arteries, aorta, coronary arteries, pericardium
Functional assessment: Ventricular size and function, wall motion, regurgitation, flow ratios (Qp:Qs)
Advanced imaging evaluation: T1/T2 mapping, myocardial perfusion, late gadolinium enhancement, 4D flow imaging
Associated findings: Pleural effusion, pulmonary venous anomalies, vascular stenosis or dilation
Topics: Myhre Tetralogy Fallot