[Pseudoxanthoma elasticum in pregnancy: effects on mother and child]

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Pleiotropy01:33

Pleiotropy

Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
Pigmentation01:19

Pigmentation

The color of the skin is influenced by a number of pigments, including melanin, carotene, and hemoglobin. Recall that melanin is produced by cells called melanocytes, which are found scattered throughout the stratum basale of the epidermis. The melanin is transferred to the keratinocytes via melanosomes.
Melanin occurs in two primary forms: eumelanin that provides black and brown pigment and pheomelanin that provides red color. Dark-skinned individuals produce more melanin than those with pale...
Teratogenicity01:07

Teratogenicity

The ability of a drug to produce structural deformations and functional abnormalities in the developing embryo or the fetus is called teratogenicity, and the drug producing this effect is known as a teratogen. Teratogenic effects include stillbirth, miscarriage, intrauterine growth restriction, and neurocognitive delay. A teratogen may affect the embryo at different stages of development, which is important in determining the type and extent of the damage. During blastocyst formation, the early...
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...
Mitral Valve Prolapse III: Nursing Management01:19

Mitral Valve Prolapse III: Nursing Management

The nursing management of Mitral Valve Prolapse, or MVP, centers around patient education, symptom monitoring, and lifestyle modifications.Patient Education on MVP Diagnosis and Heredity: Nurses should provide comprehensive education about MVP, a condition where the mitral valve does not close appropriately during heartbeats. This education often includes the condition's pathophysiology, symptoms, and potential complications, like arrhythmias or mitral regurgitation. Though not fully...