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

Retro Bowl is all about offense

While some users may grumble that they want to be able to manage their defense, it definitely adds to the dramatic atmosphere and may be heartbreaking when you constantly see the term “TOUCHDOWN” as your defense fails to defend your 31-point advantage. <a href=” Bowl</a>

LAb report

Please see the attached documents I have been done part of the report i need help to finish with plagarism report, please read the guidelines i have the sources there too.

Capital Budgeting

 Can someone help explain how to calculate the net present value (NPV) of a project with uneven cash flows over 5 years? [ slope] [[|slope]] [slope]() [slope]: <a href=””>slope</a> [url=]slope[/url] “slope”: [link= url]slope[/link]

forever new leather jacket

Discover eternal elegance with Foreverjackets.com’s forever new leather jacket. These jackets, designed for durability and style, provide a new touch on traditional fashion, making them suitable for every season and seamlessly improving your everyday outfit.

sdkjgslf

check file Jackson Hole Summit Ridge Ski Lodge – Warming Hut Monthly Income Report Jackson Hole – Income by Month January February March April May June July August September October November December Morning Meal 3500.21 3652.14 3456.74 3291.11 1109.09 534.36 415.12 379.85 401.25 479.27 1965.31 2987.22 Morning Snack 2250.31 3265.02

dis 555555555

  Should there be more of a focus on high school students selecting a career path while they are still in high school? Will this help them later on in life? Hinder them?  Is the career you are pursing now, what you were planning on in High School?  If so

Forensic Science Course in 2 weeks

My kid enrolled for Forensic Science Summer 2025 He finish first unit out of 5 unit but need urgent help to complete rest “online summer program” ASAP. The final deadline is 3-July-2025 to complete all works. Please check attached syllabus for complete course.

Resume Packet Questions

Answer Task 4-Questions 6-10, following the guidelines. Nothing else. This file is too large to display.View in new window

biology

Name: Date: Lab 1: Plant Structures, Reactants, and Products of Photosynthesis Activity 1: Label the reactants and products of photosynthesis 1. Launch the view · Launch Visible Biology. · Navigate to Study/Lab Activities, and find the Photosynthesis Lab section. · Select view 1. Photosynthesis. 2. Label the image below ·

What makes Geometry Dash special?

Geometry Dash stands out with its fast-paced rhythm-based gameplay, where precision timing and muscle memory are key to success. Its combination of vibrant visuals, catchy electronic music, and increasingly challenging levels creates an addictive experience that keeps players coming back. The ability to create and share custom levels adds unlimited

Prof Double R

 QUESTIONS 1 Where has healthcare information management been historically? How has the introduction of technology dramatically changed the landscape? How has the introduction of technology increased the need for and importance of proper management? Support your answer with relevant resources. QUESTIONS 2 A common misconception is that a nurse has

bel hav u6

attached Unit 6: Writing Assignment Due Saturday by 11:59pm Points 30 Submitting a file upload Unit 6 Writing Assignment Rubric Start Assignment Writing Assignment: Submit by Saturday 11:59 p.m. Prompt: Recall the implications from this week’s focus chapter on NAEP reading proficiency. Write a paper addressing each of the following

Dis

Chapter 2 This file is too large to display.View in new window

Paraphrase

I need help with paraphasing This file is too large to display.View in new window

Biology 2

1 2 PRE-LAB EXERCISES Open the A&P app, and from the left-side menu, select Cells and Tissue, and then choose Chapter 3. Cell Life Cycle. Use the modules to guide your exploration of the life cycle of cells. Be sure to use the book icon to learn more about the

Week 10 Bio

  Select two of the unit student learning outcome (USLO) prompts below to respond to in this week’s reflection. USLO 10.1 Differentiate normal body water and electrolyte composition and movement in the fluid compartments. USLO 10.2 Explain the regulation of water balance within the body. USLO 10.3 Explain the roles