Our Services

Get 15% Discount on your First Order

[rank_math_breadcrumb]

Anatomy & physiology

Can you have this done by 10pm?

BIOS251 WK 3 CASE STUDY

Introduction recap:

The cell is the structural & and functional unit of living organisms capable of carrying out life processes. The normal functions of an organism, as a whole, are the outcome of the activities & and interactions of cells and their organelles. An organelle may be defined as a structure made of molecules organized in such a way that it can perform a specific function. Think of organelles as “tiny organs” that allow each cell to live. Even though organelles cannot survive outside the cell, without organelles, the cell itself could not survive either.  Examples of organelles are the nucleus, endoplasmic reticulum, Golgi apparatus, lysosomes, and mitochondria.

Scenario/Summary

In this case study, we look at the clinical implications of what happens to a client when one of a cell’s “tiny organ” organelles fails to function properly. In particular, we will use a lysosomal storage disease to demonstrate this.

Mrs. Anderson brings her 9-month-old daughter, Emily, to the pediatric clinic for a routine check-up. During the examination, the nurse practitioner notices that Emily is not reaching typical developmental milestones. Mrs. Anderson mentions that she has noticed a loss of formerly acquired skills, such as the ability to track objects with her eyes and respond to her name.

Upon further inquiry, Mrs. Anderson discloses that she and her husband are carriers of Tay-Sachs disease, a genetic disorder that runs in their Ashkenazi Jewish heritage. The nurse practitioner decides to conduct a thorough assessment, including a neurological examination.

During the examination, Emily exhibits decreased muscle tone, poor head control, and a lack of response to visual and auditory stimuli. The nurse also observes a cherry-red spot on the retina upon fundoscopic examination. Given Emily’s clinical presentation and the family history, the nurse suspects Tay-Sachs disease.

Additional diagnostic procedures, such as enzyme assays, validate the presence of hexosaminidase A deficiency, thereby establishing the diagnosis of Tay-Sachs disease. The nurse discusses the prognosis and challenges associated with Tay-Sachs with Mrs. Anderson, providing emotional support and referring the family to a genetic counselor for further guidance.

Over subsequent visits, the nurse collaborates with the healthcare team to implement a comprehensive care plan that focuses on symptom management, supportive therapies, and anticipatory guidance for the family. The interdisciplinary team works together to optimize Emily’s quality of life while addressing the complex medical and emotional aspects of Tay-Sachs disease.


KEY CHARACTERISTICS OF THIS CONDITION

·
Developmental delay: clients may not reach developmental milestones. 

· Fundoscopic examination shows a characteristic
cherry red spot on the macule: due to the deposition of GM2 ganglioside. Gangliosides are a type of
glycosphingolipid, which means they consist of a
lipid (fatty acid) portion and a carbohydrate (sugar) portion. GM2 gangliosides are complex glycosphingolipids that are an integral part of cell membranes, particularly in nervous tissue.

·
Cause: Hexosaminidase A gene (HEXA) gene mutation.

·
Consequence: Hexosaminidase A enzyme (HEX A) is required to degrade GM2 ganglioside; without the HEX A enzyme, GM2 ganglioside accumulates in the lysosomes of brain and nerve cells.

·
Inheritance pattern: autosomal recessive 

Deliverables

Please address the following questions in complete sentences.

1.
What is the normal function of Lysosomes?

2.
What are the monomers of the Hexosaminidase A enzyme?

3.
What is the composition of a cell’s plasma membrane?

4.
List all the non-membrane-bound and all the membrane-bound cellular organelles in a eukaryotic cell.

5.
A nurse is caring for a 6-month-old infant who has been diagnosed with Tay-Sachs disease. The parents express concern about the child’s developmental milestones. Which of the following statements by the nurse is most appropriate?

a.
“Your child’s development may be delayed, but interventions can help improve outcomes.”

b.
“Tay-Sachs disease typically does not affect developmental milestones in the first year of life.”

c.
“Your child’s development is likely to progress normally, as Tay-Sachs primarily affects motor function.”

d.
“There’s no need to worry about developmental delays in Tay-Sachs disease; it primarily affects cognitive function.”

Share This Post

Email
WhatsApp
Facebook
Twitter
LinkedIn
Pinterest
Reddit

Order a Similar Paper and get 15% Discount on your First Order

Related Questions

A Journey Worth Taking

  Playing  feels like being part of a global story. It teaches patience, observation, and cultural appreciation. Every click takes you somewhere new and reminds you how vast and beautiful our planet is. Whether you’re playing casually or competitively, GeoGuessr connects you to the world in a way few games

Biology

Health Care systems. Compare and contrast United States health care system to Mexico?

jacob

develop your ability to create an effective patient education plan for populations at increased risk for urinary tract infections (UTIs). You will integrate evidence-based strategies with a focus on UTI pathophysiology, prevention, management, and patient education. Follow these steps: 1. Select a High-Risk Population: Choose one of the following populations

research

 Discuss legal, ethical, and social issues associated with the introduction of precision medicine.  The assignment should be done in three parts such as the annotated bibliography, the outline and the final document based on 10 or more articles.  Below only 5 articles are listed. 

Biology

Biology Cell Membrane and Transport NOT drawn to scale!! Explain how eukaryotic cells are similar to and different from prokaryotic cells. (ON YOUR OWN) Explain how each eukaryotic organelle/structure (cell membrane, nucleus, mitochondria, chloroplasts, endoplasmic reticulum and plant cell walls, and vacuoles) contribute to the overall function of the cell.

cortiez clothing

  Corteiz Clothing zum Sonderpreis Cortiez Clothing. Erhalten Sie bis zu 30 Rabatt auf den Corteiz Online Shop in Deutschland. Kostenloser Versand.

Assistance 4

See attachment for instructions Instructions: Using the research proposal: “How Does Staff Shortages Worsen the Effects of Overcrowding Correctional Facilities in Alabama?”, Submit a very brief prospectus that corresponds to the research proposal . Must be one-two paragraphs in which students describe their research project, with a primary focus on

Help 4

See Attachments Instructions: Answer the 5 discussion questions corresponding to exercise 4.1 and the five application exercise questions corresponding to exercise 4.2 using the attached document. Application Exercise 4.1 1. The Bureau of Justice Statistics press release on inmate HIV status discusses several key findings. These are primarily descriptive, meaning

dq 11

  What are your thoughts on diagnosis? When is diagnosis in the best interest of the client? When might a formal diagnosis NOT be in the best interest of the client? What do you perceive to be “responsible” use of diagnosis in counseling?

fix

feedback attached This file is too large to display.View in new window

Lorem, ipsum

Biology 1406 Exam 1 Study Guide Chapters 1-3 of McGraw Hill Connect and lecture material Students MUST know and understand: – The core concepts of the course (STEMS) and how they are applied – The steps involved in the scientific method, scientific laws and scientific theories – Steps involved with