Effects of Cystic Fibrosis and Huntington's Disease

This document discusses the effects and symptoms of Cystic Fibrosis and Huntington's Disease. It also explains the genetic inheritance and the chances of developing these diseases.

RUNNING HEAD: CASE STUDY
CASE STUDY
Name of Student
Name of University
Author note

1CASE STUDY
RESPONSE TO TASK 1
a)
Endocrine system is made of more than a few glands present throughout the body.
These glands release the hormones into the bloodstream. These very hormones then regulate
a broad range of metabolic processes. These hormones control the biological clock
(Bedrosian, Fonken and Nelson 2016) and then regulate heart rate, blood pressure. Proper
intake of nutrients maintains a fit endocrine system, along with the specific nutrients that play
a crucial role in control of hormone balance (Lv et al. 2018). Healthy thyroid gland controls
the metabolic rate aptly while an underactive thyroid decreases or increases the metabolic
rate, accordingly. Vitamins D and A interact with the cells in the thyroid gland (Manzini,
Malhofer and Weber 2019) that regulate the production of thyroid hormone, it also controls
the selenium levels in blood that activates enzymes which then acts on thyroid hormones. As
Ojomu strives on a diet of sugar and salt snacks mostly – it can lead to severe metabolic
disturbances and related overweight. Overweight can lead to obesity. In order to replenish his
nutritional deficiencies – Ojomu should eat dairy products contain vitamin D, A, nuts and
fruits instead of snacks. Vitamins regulate the biological clock that controls the rhythmicity
of biological process. Ojomu should eat a balanced diet at a timely interval and maintain a
diet chart as well. Eating very much and very little on a daily basis disrupts the endocrine
system.
Excess carbohydrate can lead to overweight, obesity and related disorders. With a
proper balanced intake of food along with regular exercise, work and sleep is critical to the
regulation of the bodily –processes. Improper digestion, satiety center and food intake play an
important role in maintenance of nutritional status of the body. Obese and overweight people
present with gastro-esophageal reflux disease, fatty liver syndromes and even gallstones.
Ojomu is at the risk of these diseases as he constantly skips his mealtimes and eats unhealthy

2CASE STUDY
food and drinks. It is vital to treat his weight gain problems which are leading to respiratory
issues as well. Imbalance between the calories that is consumed and the calories that is
expended ( which is the case with Ojomu as he almost lives a sedentary lifestyle and intakes
high calorie foods) can lead to depression, fat accumulation and related troubles. Given his
overweight and respiratory distress – he should start with dieting, physical exercises, weight
loss programs, jogging and if needed, then cognitive behavioral therapy.
His metabolic and digestive disorders have affected his cardiovascular functions as
well as Ojomu feels shortness of breaths on slight walking. Exercising not only strengthens
the muscles but also make the body functional at different levels. Ojomu should go for a good
workout that will make him more alert, accelerate his metabolism and energize him to live a
healthy life. Exercise just before the bedtime could cause poor sleep and hence, the morning
hours are best suited for him. Before, leaving for office, he should eat a healthy breakfast
with balanced protein, carbohydrate and fruits following an early morning exercise. His will
help him feel motivated towards office and personal life at the same time.
Improper diet, nutritional deficiency, improper sleep and over strain can lead to
anxiety disorders, physical and psychological pain. Maintain a normal blood sugar level is
cardinal to address the mental burnout. Rest and sleep are very important for Ojomu along
with a diet that is rich in vegetables, whole grains and most vitally, fruits.
b) Fig 1 (Ainuna.com 2019).
Respiratory system
Structure Function
Nostrils The nose along with nasal cavity creates an
external opening of respiratory system and
allows the fresh oxygenated air to be inhaled.
Pharynx Pharynx is a muscular funnel, which extends

3CASE STUDY
from nasal cavity’s posterior to superior part of
esophagus and the larynx. Pharynx has three
parts - the nasopharynx, laryngopharynx and
oropharynx. It takes the inhaled air down the
respiratory tract.
Larynx The larynx (called the voice box) joins
laryngopharynx with the trachea. Larynx is
present at neck’s anterior portion, inferior
to hyoid bone. The larynx or the voice is
present superiorly to the trachea. Several
cartilaginous structures consolidates the
structure. Epiglottis is a cartilage segment of
larynx and it functions as a laryngeal cover
while swallowing.
Trachea The trachea (windpipe) consists of C-shaped
cartilaginous rings, joins the larynx to bronchi,
and permits air through to the thorax. The rings
maintains the internal pressure and prevents
the pipe from collapsing.
Bronchi and bronchioles The trachea divides into bronchi entering the
lungs. The primary bronchi divides into
secondary bronchi and gradually form the
bronchial tree. The bronchi at the end of the
tree, form even smaller structures called
bronchioles. The bronchioles end in blind air
sacs called alveoli where gaseous exchange
takes place.
Lungs Lungs are two spongy organs present in thorax,
adjoined by pleural membrane. The pleural
membrane reduces friction against the thoracic
wall. It helps to create a negative pressure that
makes the respiratory process possible.
Muscles of respiration The intercostal muscles and the diaphragmatic
muscles are chief muscles that facilitates the
respiration in a synchronized way.
Urinary system consists of renal vessels, kidneys, urinary bladder, ureter and urethra.
Kidneys filter the urine out of blood and then the ureters carry it to the urinary bladder. The
bladder stores urine to a certain physiological limit before it releases it through the urethra.
Fig 2 (Medicine LibreTexts 2019).

4CASE STUDY
Structure Function
Kidney Kidneys are two bean-shaped organs that is
found on abdominal cavity’s posterior wall.
The structural and functional unit is
nephron, which perform the chief functions
of ultrafiltration, reabsorption and tubular
secretion to produce urine.
Ureter Ureter are ten to twenty inches long and
then run on the right and left sides of body
which is parallel with vertebral column. The
ureters are tubes that transports urine from
the kidneys directly to urinary bladder.
Bladder Bladder is sac-like hollow organ that stores
the urine. Urine enters the urinary bladder
from ureters that stretches its elastic walls
very slowly. The bladder walls can hold
between six hundred to eight hundred
milliliters of urine.
Urethra Male urethra joins urinary bladder to penis.
Urethral opening Once the bladder is fully stretched, the urine
leaves from the urethral meatus.

5CASE STUDY
RESPONSE TO TASK 2:
Type of disease Name of
disease
Why Miss Smith is at risk What effects the disease
would have on Miss Smith
Deficiency Scurvy Lack of vitamin C can lead to
scurvy and Miss Smith is
clearly short of it.
The subject might feel a general
fatigue, appetite los and nausea.
The subject can have diarrhoea,
myalgia and fever, arthralgia
(Antonelli et al. 2018) There
can be ‘pinpoint’ bleeding in
hair follicles. Gums become
spongy and prone to a bleeding.
Tooth becomes loose and eyes
bulge out which is called as
proptosis. Skin gets loose and
dry and is easily scaled off. The
old scars might peel off leading
to fresh wounds now and then.
Degeneration Degenerative
disc disease
It has been seen that smoking
leads to degenerative disc
disease as nicotine deprives the
disc cells of important nutrient.
Hence, miss smith is at the risk
of developing this.
Continuous sharp pain is
diagnosed at the lower back
region, the buttocks and the
upper thighs. At times, the pain
is intermittent. The patient can
perceive it as severe or nagging
and it can even last for months.

6CASE STUDY
The pain feels worse when one
tries to sit and the pain is
relieved one get up and walk.
Bending and lifting heaving
object lead to severe,
uncontrollable episodes of
agony.
Infectious Urinary tract
infection
It has been reported that
deficiency of Vitamin D causes
immune system dysregulation
and this mostly leads to urinary
tract infections in females.
There is a burning sensation
during urination. There is
frequent urge for urination.
There is a pain and pressure felt
in the back or the lower
abdomen. Urine is dark and
cloudy. Patient gets chills and
severe fever all the time.
Patient gets non oriented and
even unconscious at severe
fever stages.
Non-infectious Xerophthalmi
a
Vitamin A deficiency leads to
night blindness
It is a progressive disease
resulting from continuous
vitamin A deficiency. It can
lead to conjunctival
xerosis(Sherwin and
Samarawickrama 2018) that
can then lead to drying of the

7CASE STUDY
cornea (corneal xerosis) and it
causes a corneal softening and
more deterioration. The last
stage is extremely severe and is
known as keratomalacia(Gospe
et al. 2016)
RESPONSE TO TASK 3:
a.Cystic fibrosis - a genetically inherited disorder, causes a deep harm to lungs, the
alimentary system and to different organs as well. Cystic fibrosis (Stoltz, Meyerholz and
Welsh 2015) attacks the cells, damages the cells that produce, sweat, mucus. Secreted fluids
are generally thin and very slippery while in cystic fibrosis, defective gene makes secretions
very thick and viscous. These secretions then block the respiratory tubes, the ducts and the
bronchus. It affects the functioning of lungs. The cystic fibrosis symptoms may vary along
with stage of the disease. Some people start feeling the signs and symptoms at adolescent
stage or during adulthood. People who suffer from cystic fibrosis generally have higher salt
levels in sweat. Cystic fibrosis’s signs and symptoms affect respiratory system (Ciofu et al.
2015) digestive system. They might also have an inflamed pancreas that is also known as
pancreatitis. In severe complications – cystic fibrosis can lead to infertility and also to
recurring pneumonia.
b) Cystic fibrosis is a autosomal recessive disorder. C = Cystic fibrosis gene, c = other genes
C C
C CC Cc
C Cc Cc

8CASE STUDY
He has a chance of 25 percent of having Cystic fibrosis and 50 percent chance of being a
carrier.
c)
C C
C Cc Cc
C Cc Cc
His child will have 50 percent chance of being a carrier.
d). Huntington's disease – an inherited condition causes an advanced breakdown (or
degeneration) of the neurons in human brain (Labadorf, Hoss and Myers 2017). This disease
have a wider impact on person's cognitive and functional abilities concerned with the
movements, the thinking processes and this can also lead to psychiatric disorders (Vinther‐
Jensen et al. 2016). The Huntington's disease causes a disturbance of movements, psychiatric
and cognitive disorders. These lapses and cognitive, planning flaws in the psychological
rhythm can lead to development of an array of multi – system disorders and lack of higher
cortical and cerebellar functions also contribute to severe motor problems in the Huntington’s
patients.
c). Huntington’s disease is an autosomal dominant disorder. H = Huntington’s gene, h =
normal gene.
SET A
H h
H HH Hh
H Hh hh

9CASE STUDY
In this case, the disease can occur at 75 percent chances.
Set B
H h
H Hh hh
H Hh hh
In this case, the disease has a 50 percent chance of occurring.

10CASE STUDY
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