Genetic Syndromes Affecting Both Children and Adults: A Practical Guide to Imaging-based Diagnosis, Management, and

Bradford Hastings1, Koenraad Mortele2, Edward Y Lee3

  • 1Department of Radiology, Beth Israel Deaconess Medical Center, Harvard Medical School, 330 Brookline Avenue, Boston, MA 02215, USA.

Related Concept Videos

Imaging Studies for Cardiovascular System III: X-Ray01:20

Imaging Studies for Cardiovascular System III: X-Ray

The most common cardiovascular diagnostic test is an X-ray. It produces images of the heart, blood vessels, and adjacent structures.
Definition and Purpose
An X-ray, or radiograph, is a non-invasive method that uses ionizing radiation to take images of internal structures. It is mainly used in cardiac imaging to examine the heart, lungs, and major blood vessels, aiming to identify abnormalities in the heart's size, shape, and position, such as heart failure, congenital defects, and vascular...
416
Radiological Investigation I: X-ray and CT01:30

Radiological Investigation I: X-ray and CT

Radiological investigations, including X-rays and computed tomography (CT) scans, are critical for diagnosing and evaluating various medical conditions. These imaging techniques provide valuable insights into the body's internal structures, aiding in the detection of abnormalities, assessment of disease progression, and development of treatment strategies. This article delves into two primary radiological investigations, chest X-rays and CT scans, outlining their purpose, procedures, and...
945
Genetic Screens02:46

Genetic Screens

Genetic screens are tools used to identify genes and mutations responsible for phenotypes of interest. Genetic screens help identify individuals or a group of people at risk of developing  genetic diseases and help them with early intervention, targeted therapy, and reproductive options.
Forward genetic screens
Forward or “classical” genetic screens involve creating random mutations in an organism’s DNA using radiation, mutagens, or insertion of additional bases, which...
5.5K
Imaging Studies I: CT and MRI01:14

Imaging Studies I: CT and MRI

Introduction: MRI and CT scans are crucial advancements in medical imaging techniques, playing a vital role in diagnosing conditions related to the gastrointestinal (GI) system. Each scan serves distinct purposes, targets specific areas, and requires unique nursing duties.
Description of the Procedures
Computed Tomography (CT) scan:
Computed Tomography (CT) scans use X-ray technology to generate detailed images of bones, organs, and tissues. During the scan, the patient lies on a moving table...
708
Imaging Studies IV: Magnetic Resonance Imaging01:27

Imaging Studies IV: Magnetic Resonance Imaging

Introduction:Magnetic Resonance Imaging, or MRI, can include a specialized imaging technique of the urinary system known as Magnetic Resonance Urography (MRU). This radiation-free technique uses strong magnetic fields and radio waves to produce detailed images with the help of a computer. MRU is particularly effective for visualizing fluid-filled structures like the kidneys, ureters, and bladder.Applications of MRI in the Genitourinary SystemKidneys and Ureters: MRI detects tumors, cysts,...
190
Genomic Imprinting and Inheritance02:30

Genomic Imprinting and Inheritance

Diploid organisms inherit genetic material through chromosomes from both parents. Copies of the same gene are known as alleles. In most cases, both alleles are simultaneously expressed and allow various cellular processes to function optimally. If one of the alleles is missing or mutated, the expression of the other allele can compensate; however, this is not true for all genes.
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...
36.6K