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What is the underlying cause in this case (i mean its pathophysiology)?


my client is 18yrs old female and her husband is 45 yrs old. They had a daughter who have a cleft lip. I know this is genetic in nature, but can someone please expound the underlying mechanisms why this happened? I hope you could help me. Thanks! :)

Answer 1:

From eMedicine:

The etiology of clefts is multifactorial, with both genetic and environmental causes cited. The observation of clustered cases of facial clefts in a particular family indicates a genetic basis. Clefting of the lip and/or palate is associated with more than 150 syndromes. The overall incidence of associated anomalies (eg, cardiac) is approximately 30% (more common with isolated cleft palate). Environmental causes such as viral infection (eg, rubella) and teratogens (eg, steroids, anticonvulsants) during the first trimester have been linked to facial clefts. The risk also increases with parental age, especially when older than 30 years, with the father's age appearing to be a more significant factor than the mother's age. Nevertheless, most presentations are of isolated patients within the family without an obvious etiology.

Pathophysiology

Mesenchymal migration and fusion of the primitive somite-derived facial elements (central frontonasal, two lateral maxillary, mandibular processes) at 4-7 weeks gestation is necessary for the normal development of embryonic facial structures. When migration and fusion are interrupted for any reason, a facial cleft develops along embryonic fusion lines. The embryonic development of the primary palate (lip and palate anterior to the incisive foramen) differs from the secondary palate (palate posterior to the incisive foramen).

The developing processes of the medial nasal prominence, lateral nasal prominence, and maxillary prominences form the primary palate. Fusion occurs, followed by "streaming" of mesodermal elements derived from the neural crest.

In contrast, the secondary palate is formed by the fusion of palatal processes of the maxillary prominence alone. The difference in embryonic development suggests the possibility of differing degrees of susceptibility to genetic and environmental influences and accounts for the observed variation in incidence.

Read the full text here:
http://www.emedicine.com/plastic/TOPIC16…


Heart pathophysiology what are the factors to change the ejection fraction?


The heart does not eject all of the blood that is in the ventricle. Only about two-thirds of the blood is normally pumped out with each beat. That fraction is referred to the ejection fraction.

The ejection fraction is an indicator of the heart's health. If the heart is diseased from a heart attack or another cardiac condition, the ejection fraction may fall, for example, to a third. Only a third of the blood in the ventricle is pumped out. The heart is essentially half-normal .Because the left ventricle is the heart's main pumping chamber, ejection fraction is usually measured only in the left ventricle.

For the majority of congestive heart failure patients, treatment should focus on using the recommended doses of an ACE inhibitor and initiating a beta-blocker in stable patients.Other treatments that may be considered (depending on the patient's symptoms) include: diuretics, digoxin, nitrates, warfarin, and amiodarone.

The patient's progress should be monitored continually. Improvements may require reevaluation of the initial treatment plan. Also, if the patient's condition worsens despite adjustments to the various therapies, hospitalization, intravenous diuretics, vasodilators or inotropic therapy, and transplantation should be considered. Aggressive attempts to control atrial fibrillation and/or ventricular rate response should be implemented in patients with diastolic dysfunction.


Take care as always!


How do i organize a pathophysiology flow sheet on hypothyroidism?


my teacher is jerk and won't explain it. i even did a rough draft and without looking at it he said it was wrong so i don't know how i can put this thing together right and impress him so he stops treating me like dirt.i have the info just not sure how to put on my poster so it make sense . someone please help because i don't want to flunk this school so expensive, i can't afford to flunk.

Answer 1:

See figure 1 in the following link, then read the accompanying text: http://www.camlt.org/DL_web/967_flora_fr…


What is the difference between Pathology and Pathophysiology?


Pathology is the study and diagnosis of disease through examination of organs, tissues, bodily fluids, and whole bodies (autopsies). Pathology also encompasses the related scientific study of disease processes, called General pathology.

Pathophysiology is the study of the biological and physical manifestations of disease as they correlate with the underlying abnormalities and physiological disturbances.

The PHYSICAL MANIFESTATIONS and HOW THEY CORRELATE is the main difference in pathophysiology where as pathology is the study of cause and effect on tissues and organs


What are the differences between Pathophysiology and Genetics?


PATHOPHYSIOLOGY
Pathophysiology is the study of the disturbance of normal mechanical, physical, and biochemical functions, either caused by a disease, or resulting from a disease or abnormal syndrome or condition that may not qualify to be called a disease. An alternate definition is "the study of the biological and physical manifestations of disease as they correlate with the underlying abnormalities and physiological disturbances."

An example, from the field of infectious disease, would be the study of a toxin released by a bacterium, and what that toxin does to the body to cause harm, one possible result being sepsis. Another example is the study of the chemical changes that take place in body tissue due to inflammation.

Pathophysiology can be looked at as the intersection of two older, related disciplines: (normal) physiology and pathology.

Physiology is the study of normal, healthy bodily function (as opposed to anatomy, which is the study of normal structure). When something disrupts normal physiological processes, it enters the realm of pathophysiology.

Pathology, broadly speaking, is the "study of the nature and cause of disease." or the results of disease in the body. Pathophysiology looks at the detailed malfunctioning that comes from or, alternately, causes disease.

One caution in this approach is that healthy structure and function is not precisely the same in any two individuals.

Pathophysiology is a required study for most nursing school programs in the United States as well as other countries.

GENETICS
Genetics is the science of heredity and variation in living organisms. Knowledge of the inheritance of characteristics has been implicitly used since prehistoric times for improving crop plants and animals through selective breeding. However, the modern science of genetics, which seeks to understand the mechanisms of inheritance, only began with the work of Gregor Mendel in the mid-1800s. Although he did not know the physical basis for heredity, Mendel observed that inheritance is fundamentally a discrete process with specific traits that are inherited in an independent manner — these basic units of inheritance are now called genes.

Following the rediscovery of Mendel's observations in the early 1900s, research in 1910s yielded the first physical understanding of inheritance — that genes are arranged linearly along large cellular structures called chromosomes. By the 1950s it was understood that the core of a chromosome was a long molecule called DNA and genes existed as linear sections within the molecule. A single strand of DNA is a chain of four types of nucleotides; hereditary information is contained within the sequence of these nucleotides. Solved by Watson and Crick in 1953, DNA's three-dimensional structure is a double-stranded helix, with the nucleotides on each strand complementary to each other. Each strand acts as a template for synthesis of a new partner strand, providing the physical mechanism for the inheritance of information.

The sequence of nucleotides in DNA is used to produce specific sequences of amino acids, creating proteins — a correspondence known as the "genetic code". This sequence of amino acids in a protein determines how it folds into a three-dimensional structure, this structure is in turn responsible for the protein's function. Proteins are responsible for almost all functional roles in the cell. A change to DNA sequence can change a protein's structure and behavior, and this can have dramatic consequences in the cell and on the organism as a whole.

Although genetics plays a large role in determining the appearance and behavior of organisms, it is the interaction of genetics with the environment an organism experiences that determines the ultimate outcome. For example, while genes play a role in determining a person's height, the nutrition and health that person experiences in childhood also have a large effect.

Answer 1:

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