Case Study #1
This assignment is to be completed individually, however, discussion amongst peers is recommended. The objective of this activity is to demonstrate an understanding of cellular injury, genetic alterations, and electrolyte imbalances. Explanations must be clear and concise covering all aspects of physiology and pathophysiology at the cellular, tissue, and organ level where appropriate. Each response should have 1-2 citations (preferably not the same citation if using two or more). For this case study, your textbook, videos, and posted readings should provide support in completing this assignment. Summarizing or paraphrasing content from the textbook (or any other source) requires citation and references. Items with direct quotes will not receive credit. Submit a reference of your textbook and any other sources used at the end of the activity. Use this document as a template to submit your responses. Place the response under the respective item. Submit the activity to the link available in week 2. The rubric is available via the link.
Case:
A 42-year-old who is Gravida: 3, Para: 2-0-2 was admitted to the delivery unit in labor. Mother was diagnosed with gestational diabetes earlier and thyroid hormone medication required adjustment several times during the last two trimesters. On admission, mothers blood pressure was 130/70 and her pulse was 75. Fetal heart rate was 145 beats/minute. Four hours after admission, the mother delivered a 37-week, 7lb., and 2oz. baby girl. The baby had a healthy cry. The Apgar score was 8 at 1 minute and 9 at 5 minutes after birth. The healthcare provider and staff noted the baby had a small head with a flat occiput, a broad and flat nasal bridge, folds of skin in the corners of the eyes, an upward slant to the eyes, a protruding tongue, short fingers, and hypotonia to extremities. There also was an excess amount of skin on the back of her neck. As the mother holds her new daughter, she notices that her eyes, nose, and ears appear different from other babies. She also notices that the both babys hands also have very short fingers plus the fifth digit fingers are unusually curved.
1. Which of the following is suspected by the healthcare provider? Provide rationale for the correct response and explain why each other response is not the appropriate one.
a. Klinefelter syndrome
b. Turner syndrome
c. Down Syndrome
d. Cri du Chat syndrome
2. Explain why age of parents is a risk factor for the development of the syndrome.
3. Explain the pathogenesis of the syndrome. In your response discuss the contributing parent cell, nondisjunction, chromosomal abnormality, and identify the infants karyotype.
4. Explain the electrolyte and fluid imbalance along with manifestations if the infant had duodenal stenosis (DST).
5. The patient (infant above) is now 28-years old and is diagnosed with primary (essential) hypertension (HTN). Explain the cellular injury that is derived from HTN and use one anatomical site to explain (ocular, tunica intima/media of large arterial vessel, renal, myocardium, or cerebral etc..).
