Developmental Delays Case Studies

Developmental Delays Case Studies
To: [Name] Thank you for referring [Name], 2 and 7/12–year–old ambidextrous male for evaluation
of "developmental delays." Please allow me to review the history for my records. [Name] is
accompanied by his mother and physical therapist today. The patient has had global developmental
delays since shortly after birth. He was 1st formally evaluated in July 2006, when he was not to
sitting, talking, or standing. This developmental evaluation has recently been repeated. This showed
essentially developmental stagnation. During the 1st evaluation the child's developmental age was
approximately 8 months; during the 2nd evaluation it was 6 months, not significantly different.
[Name] has never had seizures. There has been no true developmental regression. ... Show more
content on Helpwriting.net ...
[Name]'s only other medical problem is asthma. He uses albuterol as needed. He is on no routine
medications, and has no known drug allergies. Family history is largely unknown. The patient's
mother is unable to read. There are 2 siblings of different fathers and another, the mother is currently
pregnant. Socially the patient is involved in early intervention services. Review of systems is
negative for any known opthalmologic, ENT, cardiovascular, respiratory, gastrointestinal,
genitourinary, musculoskeletal, skin, psychiatric, endocrine, hematologic, or immunologic
problems. [Name]'s general physical examination is remarkable for his relative microcephaly. He
has somewhat of a low brow line. There are no other true dysmorphisms. He has no neurocutaneous
stigmata. There is no hepatosplenomegaly. Peripheral pulses are normal. A comprehensive
neurologic examination that included: Testing of the skull, spine, and meninges; cranial nerve 2
through 12; muscle mass,10; strength; sensation; deep tendon reflexes; and plantar responses was
significant for his mild–to–moderate hypotonia. He is not hyperreflexic. The patient's
Developmental Evaluation, and MRI scan _____(and labs) are reviewed
... Get more on HelpWriting.net ...

Biopsychology Personal Statement
Our existence, as the most developed species on Earth, relies on intelligence and determination to
understand how our body functions and what we can do to help with its constant battle for survival.
Diseases that were once deemed rare are becoming extremely common. With no cures, many
patients' lives are endangered. Being born in a generation full of technological advancements, I
believe that, with my passion for biology and inquisitiveness for the world of biomedical science,
now is the time to engage in this global challenge to develop easier and better ways to live our lives.
My A–Level choices have equipped me with the adequate skills and basic knowledge that I feel are
necessary to study a degree in Biomedical Science. In Psychology, I found Biopsychology most
fascinating because we learnt about how the Nervous System works alongside the Endocrine
System. Equally, I enjoyed Psychopathology as we learnt about the causes and symptoms of
diseases such as OCD, and the drug–based biological treatments for them that target hormones such
as serotonin. Studying Mathematics has enabled me to achieve a greater understanding of how to
apply statistical tests such as the Spearman's Rank Correlation, in Biology. During the Summer of
2017, I attended a Forensic Science course ... Show more content on Helpwriting.net ...
By the time I attended Secondary School, I found myself nominating the same charity whenever the
chance arose. This charity, Smile 4 Jacob, lies very close to my heart and is one of the reasons which
shaped my desire to study Biomedical Science. Jacob is a close friend who lived a normal life up
until the age of 9 when he lost his ability to speak, eat, walk and sit independently. He was
diagnosed with Adrenoleukodystrophy (ALD), an incurable rare disease. From my independent
research, I have learnt that ALD is an X–linked metabolic disorder that destroys the protective
myelin sheath that surrounds the brain's

The New Paradigm Gene Therapy
Gene therapy, the experimental strategy that requires the use of genes to prevent and cure diseases is
a fairly new technique, yet it is one which has shown steady advancements. The journal article
"Gene therapy clinical trials worldwide to 2012–An update" sets out to present analysis and
summaries of clinical trials that have been performed worldwide. Authors Samantha L. Ginn, Ian E.
Alexander, Michael Edelstein, Mohammad R. Abedi and Joanne Wixon dive into some of the 1843
gene therapy trials performed in 31 countries. Analyzing geographical distribution of trials,
searching for indications of mishaps in trials, speaking on diseases which have been tested in trials
and a general introduction to gene therapy are some of the points within the article.
The new paradigm gene therapy, is one that houses extraordinary potential dating back to its first
successful debut in the year 2000. In its debut gene therapy targeted X–linked severe
immunodeficiency (SCID–X1). This disease is usually found in early infancy and can be
characterized by reoccurring infections. 20 infants underwent gene therapy and after 9 years 8
remained alive. This opened doors for gene therapy as the original option, finding a matched donor,
typically has less of a survival rate. However 30 months out of treatment one patient developed T
cell leukemia as a direct result of the gene therapy, raising red flags early on. A further three patients
also developed T cell leukemia and as a result it was decided

Adrenoleukodystrophy
Adrenoleukodystrophy (ALD) is a sex linked recessive trait the ABCD1 gene resides on the long
arm of the X chromosome. Both men and women are at risk, male individuals only require to be
hemizygous recessive (single copy of the recessive gene), males express the mutation. Females can
either be homozygous normal (dominant), heterozygous carriers. If the mother is a heterozygous for
ALD then approximately half of her male offspring would have inherit the trait and approximately
half of her female offspring would be carriers. A male positive for ALD would produce no male
offspring with the trait while all of his daughters would be carriers. Many different mutations are
can be responsible for development of ALD. "more than 1,200 ABCD1 gene mutations ... Show
more content on Helpwriting.net ...
C., Lu, J.–F., Zhang, H.–P., Dong, G.–X., Heinzer, A. K., Watkins, P. A., ... Smith, K. D. (2003).
Role of ALDP (ABCD1) and Mitochondria in X–Linked Adrenoleukodystrophy. Molecular and
Cellular Biology, 23(2), 744–753. http://doi.org/10.1128/MCB.23.2.744–753.2003
Morita, M., Kobayashi, J., Yamazaki, K., Kawaguchi, K., Honda, A., Sugai, K., ... Imanaka, T.
(2013). A Novel Double Mutation in the ABCD1 Gene in a Patient with X–linked
Adrenoleukodystrophy: Analysis of the Stability and Function of the Mutant ABCD1 Protein. JIMD
Reports, 10, 95–102.
NINDS Adrenoleukodystrophy Information Page. (2016, March 3). Retrieved April 16, 2016, from
http://www.ninds.nih.gov/disorders/adrenoleukodystrophy/adrenoleukodystrophy.htm
Raphael Schiffmann, R. (2011). Adrenoleukodystrophy – Epidemiology. Retrieved April 17, 2016,
from http://www.medmerits.com/index.php/article/adrenoleukodystrophy/P6 Steinberg SJ, Moser
AB, Raymond GV. X–Linked Adrenoleukodystrophy. 1999 Mar 26 [Updated 2015 Apr 9]. In: Pagon
RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of
Washington, Seattle; 1993–2016.Available from:

Childhood Cerebral Adrenoleukodystrophy (CCALD)
Childhood Cerebral Adrenoleukodystrophy (CCALD)
A dysfunction of an enzyme in the peroxisome leads to the accumulation of very long–chain fatty
acids (VLCFA) in several areas (several areas of what?) including the central nervous tissue(CNS).
The accumulation of VLCFA is toxic leading to the death of neuroglial cells like the
oligodendrocytes and astrocytes. Astrocytes in normal conditions regulate the composition of the
blood–barrier in the central nervous system; The olygodendorocytes form the myelin sheath that
covers the axons and facilitate the effective propagation of action terminals from the neuron to the
target cells (Amerman 390). This disorder (what disorder) is caused by a mutation in the ABCD1
gene of the X–chromosome, it causes the demyelination of the neurons in the CNS inhibiting the
integration of the information from sensory stimuli and the proper response to them, causing
eventually death. X–linked disorders are present are a wide variety of phenotypes, CCALD is the
most common and presents only on boys between the age of 4 and 12. CCALD is a rapidly
progressive disease, its deteriorates the patient health in a matter of years, and due to its complexity,
its commonly misdiagnosed (Engelen).
CCALD is a X–linked disorder caused by a mutation in the ... Show more content on
Helpwriting.net ...
This devastating disorder is caused by a dysfunction of an enzyme in the peroxisome, which lead to
the accumulation of VLCFA; this accumulation causes a disruption in the homeostasis of different
cells that leads to the rapid deterioration of several functions of the patient's body leading to death.
There has been developed strategies for the treatment of patients with CCALD; in the present the
only available treatment is HCT which stops the progression of this disease, but it is very important
the time of the diagnosis to consider this treatment. Additionally, prenatal testing is available to
prevent future cases of

Genetically Inherited Diseases
Introduction:
Chromosomes are long structures that are made up of DNA and proteins called histones. They are
found in the Chromatin material in the nucleus and mitochondira. During the process "Crossing
over" where there is the mutual exchange of genes in the pieces of chromosomes that causes
variation in offspring, however this is where mutations commonly occur. If a parent has either a
faulty gene or a missing gene, the child is usually at high risk of being diagnosed with the disorder
or may be a carrier.
Definition of a genetically inherited disease:
"A genetic disease or disorder is the result of changes, or mutations, in an individual's DNA. A
mutation is a change in the DNA sequence that make up a gene" When a gene is mutated or is not
present, its protein product can no longer carry out its normal function, and thus disorder or
genetically inherited disease can occur.
ADRENOLEUKODYSTROPHY (ADL)
Description:
Adrenoleukodystrophy (also known as X–linked adrenoleukodystrophy, ALD, X–ALD,
adrenomyeloneuropathy, Siemerling–Creutzfeldt disease, or Bronze Schilder disease) is a
progressive type of a genetically inherited disease that can cause damage to the myelin sheath,
spinal cord and white matter in the central nervous system. When affected with ADL your body
cannot break down very long–chain fatty acids (VLCFA), causing high levels of saturated VLCFA's
to build up in the brain, nervous system, adrenal glands and Leydig cells in the testes.
The childhood

Analysis Of The Opposite Game
Let's play the Opposite Game! I say one word and you fill in the blank.
Hot ___________________
Up ___________________
Left ___________________
Big ___________________
Disabled ___________________
What was your reaction to the last word? Did you say "abled" or "enabled"? Or did you hesitate and
say, "Ummmm?" I'm not present to see your reaction, but here's the difference between the first four
words and the last word. At an elementary level, opposites are engraved in our learning. Therefore,
the reaction is automatic and takes little thought. However, as a society, the term "disabled" is not
engraved in our psyche; and if it is, there is a chance it is a negative perspective on those with
disabilities. We're not taught how to view or define

Imagine Not Being Able To Breath Fresh Air Or Hold And
Imagine not being able to breath fresh air or hold and feel the smooth touch of your parents. That's
what children with SCID's face everyday from the day they are born. If not for gene therapy these
children face life long isolation to survive. Today it has been widely reported that gene therapy
offers a long–term treatment for a rare condition that causes children's immune systems to fail. In
the rare condition, known as Severe Combined Immunodeficiency (SCID), inherited genetic
mutations mean that babies are unable to fight off infection, severely limiting their chances of
surviving more than a few years. SCID's are a rare genetic disorder estimated to affect between 1 in
200,000 and 1 in 1,000,000 live births (it is difficult to ... Show more content on Helpwriting.net ...
The child followed for the longest time, nine years, still had functioning immune cells, showing that
gene therapy works in the long–term. Prior to gene therapy the only other option for children with
the most common form of SCID was to receive a bone marrow transplant, which relied on finding a
suitable match. This new technique, while not without risk, offers a credible treatment option in
cases where a suitable donor cannot be found. The news also highlights the potential for using gene
therapy to treat a number of other genetic conditions, although it should be emphasised that there is
no guarantee that these diseases can be treated as successfully. In the two longer–term follow–up
studies recently published in Science Translational Medicine, the underlying genetic defect was
repaired in four out of six patients with Adenosine Demaninase–Deficient SCID, and 10 out of 10
patients with X–linked SCID. Immune cell production was restored, and the effects persisted up to
nine years after therapy (the most recent point of measurement). The procedure produced minimal
side effects, and patients could attend typical schools. Combining the results with the results of other
studies shows that 30 patients with Adenosine Demaninase–Deficient SCID have been treated with
gene therapy to date. All patients have survived and 21 have been able to stop enzyme replacement
therapy. The authors of the London study conclude that

Lorenzo S Oil Essay
TerShawn Wharton
!
Lorenzo's Oil
01/12/2014
The Lorenzo's Oil was very impressive with the way the set up was. Nick Nolte, Susan
Sarandon, Peter Ustinov, Noah Banks, Michael Haider, Billy Amman, Cristin Woodworth, and
Zack O'Malley Greenburg being the best actors of the movie in the lead roles really indulges you
into the movie. Through out the movie it's multiple Lorenzo's and they all p,ay a terrific part in the
movie as actors.It was filmed primarily from September 1991 to February 1992 in
Pittsburgh, Pennsylvania. Lorenzo's Oil is a drama film that was dirtied by George Miller.!
!
In the movie Lorenzo's Oil he started to experience weird trauma such as lost of hearing
and throwing temper tantrums. Through what was going on his ... Show more content on
Helpwriting.net ...
This is called a sex–linked diseases. Something else that was revealed was on boys can have ALD.
Other problems that occur in the movie is they have a parental support group with parents who kids
had ALD, the
TerShawn Wharton
Lorenzo's Oil
01/12/2014
parents all meet up and tell what has happen to there kid and try to support each other and tell what
they have tried to do and what work and what didn't work. Something else that they have did was
Express the way they feel about the situation that there children are facing. Also, in the movie a
paper clip theory is introduce to show how the fatty acid in the body is being faced and show the
good and the bad through the body that is causing the body to have to much fatty acid.! !

Through this film that we watch I feel that it opened my eyes to things that other people
are faced with in life and I never really realized what they where fighting. I feel that if things like
this is going on in the world maybe everyone should at least try and pitch in a little help and help
with what is going on Also, I feel that the family are really strong to be able to fight what is
happening in there lives and stay strong and not breakdown. Something else that should be said is
they should broadcast things like this so people wont be blind of what is happening. I recommend
this to a lot of people in the world to see how tough it was for families to face this and fight trough it

Adrenoleukodystrophy Essay
Adrenoleukodystrophy is a genetic disease that is passed on from mother to son. ALD is an X–
linked disorder. That means it affects only males and is transmitted by a female carrier. This disorder
is called X–linked since the genetic abnormality involves the X–chromosome. Women have two X–
chromosomes while men only have one. In women, the affected X–chromosome, the one with the
gene for ALD does not become active because of the presence of a normal copy of the gene on the
other X–chromosome. Men have one X–chromosome and one Y–chromosome. In men who have an
X– chromosome for X–ALD, there is no other X– chromosome for protection.
ALD affects the nervous system in the brain. The disease strips away the coating or the ... Show
The Adone's were not happy with the progress of the doctors because they wanted to keep ALD kids
on the diet for a long time to see the results while the Adone's want a quick cure. The only help they
were offered was other doctors and support groups that did nothing to find a cure. They were very
angered with the doctors and support gropes that did nothing but sat on their hands afraid to over
step their boundaries.
The Adone's took it upon them selves to find a cure so Mr.Odone went to the library to learn
everything he could about ALD and biochemistry he could so he could understand the disease better.
He first came up with a type of olive oil that lowered the acid level about fifty percent. But sadly the
level's stayed at fifty percent. So Mr.Odone started all over again and this time he found a way to
bring down the Lorenzo's fatty acid level even lower, but the only problem was Mr. Odone needed
was a mixture of olive oil and boric acid. Boric acid was not safe for human consumption and there
was no doctor in the U.S. that would give any to the Odone's due to its potential danger. So he then
turned his search over seas to England where he found a doctor that would make some for them.
Once Lorenzo started to take the mixture he started improve and his fatty acid level dropped to zero.
Lorenzo is still alive to day and his miracle cure "Lorenzo's oil" is use

Peroxisome in Animal Cell
| Peroxisome in animal cell | Life sciences, HAN university of applied science, Nijmegen,
Netherlands | | Mohsen Ghanbari | 30–12–2012 |
Peroxisome in animal cell
Author: Mohsen Ghanbari
Abstract
Peroxisomes have an essential function in cell metabolism. [1] They are small, membrane bounded
organelles that have at least fifty different enzymes for several metabolic reactions. [2] Their
appearance is like lysosomes; however, their main function is oxidation reactions especially
oxidation of hydrogen peroxide and producing oxygen and water. There are diseases related and
caused by this organelle that can be classified in three groups. [2] First group is a disorder duo to
overall dysfunction of peroxisomes, like zellweger ... Show more content on Helpwriting.net ...
[13] This organelle has the ability of division, proliferation and degradation in response to
environment.
There are two types of divisions, constitutive and regulated:
During cell division, mitosis, or when the organelle is old constitutive division of peroxisomes
which is for increasing the number or volume of the organelle will happen.
On the other hand when there is an external signal for proliferation of peroxisomes, regulated
division will happen which is not connected with mitosis.
Illnesses related to dysfunction of proxisomes in humans
The human peroxisomal disorders are explained as genetic heterogeneous autosomal recessive
diseases that are classified in three groups. [13] First one (group A) contain diseases like Zellweger
syndrome, infantile Refsum disease and neonatal adrenoleukodystrophy which are characterized by
severe neurological and hepatic dysfunction, craniofacial abnormalities and hypotonia, ending to an
early death in this disease patients accumulate phytanic acid and very long chain fatty acids in
circulation.
The patients in group B, rhizomelic chondrodysplasia punctata, rhizomelia, cataracts, epiphysial
calcifications and ichthyosis accumulate higher levels of phytanic acid and in spite of group A, have
a normal amount of very long chain fatty acids.
Group C shows a milder symptoms based on the mutated gene that as a result will change the
activity or localization of single enzyme.
Disorder

Changing The Gene Line?
Matthew Davis
Dr. Bettina Jones
UCORE–44
September 24, 2015
Changing the Gene Line When having a baby, the physical appearance cannot be determined until
birth, but what if advancements in technology could allow you to do so? Dr. James Hughes suggests
the idea of allowing parents to have the option to choose their kids physical attributes. In order for
this to take place, a child's DNA would have to be mutated in the early months of conception. To
many people this may seem superficial, but the roots of this idea could go much deeper. Changing a
child's DNA early in its life could allow for the possibility to prevent diseases such as cancer and
Huntington's disease. This process known as gene therapy and consists different treatments such as
"replacing a mutated gene that cause disease with a healthy copy of a gene, knocking out a mutated
gene that is functioning improperly, or introducing a new gene to help fight against diseases" (Gene
Therapy). This discovery is not only limited to unborn babies, but would be also performed for
adults too. Even though some scientist and doctors have the ability to do this the question always
arises, should they do this? Changing the DNA of a child or even an adult is a huge controversial
topic that several organizations fight over. So where is the fine line between altering DNA ethical
and unethical? Several people find the topic extremely unethical. People argue that changing genes
is taking the one thing that makes humans individual

Lorenzo's Oil Essay
Lorenzo's Oil In 1984, Lorenzo Michael Murphy Odone, just a young boy at the age of 5, was
diagnosed with adrenoleukodystrophy (ALD). ALD is an extremely rare genetic disorder that causes
damage to the myelin sheath, which is the protective layer that surrounds the central nervous
system's nerve fibers. This demyelination prevents and impairs the conduction of signals to and
from the brain, causing many problems such as aggression, visual loss, learning disabilities,
dysphagia, and hearing loss (Kugler). Lorenzo's Oil, a remarkable movie that is based on actual
events, is about Lorenzo and his parent's fight against ALD. During this time era, there was little
research about ALD and doctors were not particularly eager to intervene with a treatment that had
no guarantee of working. After viewing ... Show more content on Helpwriting.net ...
Plot/Characters Lorenzo's Oil, produced in 1992, is based on the real–life story of the Odone family.
In the beginning of the movie, Lorenzo and his parents, Augusto and Michaela, are living in the
Comoro Islands, Africa, while Augusto is working for the World Bank. Augusto is to be transferred
to the United States to work, which means that the family must leave Africa. After only being back
in the United States for 2 months, Lorenzo begins to experience neurological problems such as
extreme aggression, hearing loss, and paraplegia. After running several medical tests, doctors
diagnose Lorenzo with ALD. Only ten years earlier, ALD was not even a discovered disease, which
meant that doctors were still trying to fully understand it. Lorenzo is given only two years to
survive, due to a lack of treatment or cure. Doctors said that there is absolutely nothing they can do
for Lorenzo. Augusto and Michaela are extremely devastated and decide to take matters into their

Primary Adrenal Insufficiency ( Pai ) Essay
Primary Adrenal Insufficiency
Aryan Dastaghir, Lai Nam Chan, Nate Maisel, Rejvan Pourasad, Wendy Walker. LQB181 School of
Biomedical Sciences, Faculty of Health, QUT. Introduction
Primary Adrenal insufficiency (PAI) or Addison's Disease, as it is more commonly known as, is
defined as an insufficient production of glucocorticoids (cortisol). Cortisol is a regulatory hormone
which is secreted and synthesised by the adrenal cortex of the adrenal glands (1).
Cortisol is vital in maintaining bodily homeostasis. Some roles of cortisol include, maintaining
blood pressure, slowing down the immune system 's inflammatory response and helping the body to
respond to stress.
Consequently, Addison's disease is said to affect approximately 1 in every 10,000 people and if left
untreated, may be fatal (2). Pathophysiology
PAI results from disease intrinsic to the adrenal cortex, which is the outer layer of the adrenal gland,
found on the top of each kidney (Fig.1) (3).
During an autoimmune attack, patients will have their adrenal cortex gradually damaged by cell–
mediated immune mechanisms, resulting in autoimmune adrenalitis. Autoimmune adrenalitis
accounts for roughly 80–90% of PAI cases in developing countries.
The zone vulnerable to autoimmune attack is called glomerulosa, where aldosterone is synthesized.
Therefore, inadequate aldosterone levels are seen followed by a phase of hormone abnormalities
including cortisol deficiency (5).
Cortisol plays an essential role in response to

Zellweger Syndrome Research Paper
Zellweger syndrome (ZS), neonatal adrenoleukodystrophy (NALD), X–linked
adrenoleukodystrophy (X–ALD), and infantile Refsum disease (IRD) are the four main peroxisomal
disorders classified by the absence, or a defect in, specific peroxisomal proteins. Zellweger
syndrome is considered the most severe of the four most studied peroxisomal disorders, causing a
faster and earlier death. Lacking or having defective peroxisomal proteins is especially problematic
due to the many functions specific to this organelle such as the breakdown of fatty acids, production
of lipids for the nervous system and digestion, and functioning in development of the brain.
Peroxisomes contain no DNA, causing all of its defects to be mutations of nuclear genes. This is
significant because, as we'll learn later in this class, nuclear genes code for peroxisomal proteins
which are synthesized on cytoplasmic ribosomes to later be imported into the peroxisome. Without
proper formation, these proteins will not enter the peroxisomes and remain functionless in the
cytosol. Some individuals can still have peroxisomes detected in their cells, but they are non–
functional––or cannot properly carry out their duties––without the assistance ... Show more content
on Helpwriting.net ...
With the broad range of symptoms, treatments are carried out case–by–case to help make each
individual patient as comfortable as possible. Some general treatments used include focus mainly on
symptom therapies such as calories through gastronomy, hearing aids, cataract removal, glasses,
vitamins, primary bile acid therapy, and seizure medication (Steinberg et al., 2003). They have been
looking for a treatment that works for many years, which is why we chose such a wide range in
dates for our case studies. A few studies have had some success with easing their patients' pain and
could possibly be applied to other treatment

Lorenzo's Oil Case Study
Part A: Lorenzo's Oil Movie 1. Step 1: Their question was how to reduce blood in Lorenzo's blood.
Step 2: Lorenzo's parents did the background research on ALD to better understand the disease. Step
3: They created a hypothesis. The Odones' hypothesis was that by modifying oil, they could be able
to reduce the fat in Lorenzo's blood. Step 4: They tested this by conducting experiments. The
Odone's gave Lorenzo regulated oil to see if there was any change. After the method didn't work,
they would restart the process. During the process, they would write down their observations. Step
5: They learnt that one enzyme was responsible for the oil to be ineffective. Step 6: They shared
their discoveries with the ALD community. 2. The medical community ... Show more content on
Helpwriting.net ...
This is an important question to ask because if a society like GATTACA is to be avoided, then
government has to ensure that society does not get divided into classes. 5. a) The holocaust was a
systematic persecution of communities of Jews, disabled, and other minorities by the Nazis.
GATTACA and the Holocaust have a common theme of discrimination of people based on their
genes. Although the Holocaust was focused more on making Germany "pure" again by banning
anyone who did not the desired Arian features, GATTACA goes deeper into the genetic make up of
someone. GATTACA does not persecute the invalids, but does not give them the equal
opportunities. b) There are similarities between the Jewish Resistance, and Vincent's pursuit of space
exploration. Both were organized to rise against the discriminatory policies. In GATTACA,
resistance was shown through Vincent going to space; he was aided by Jerome Morrow who offered
Vincent his own identity so the system would not catch Vincent as an invalid. Similarly, "Jewish
civilians offered armed resistance in over 100 ghettos in occupied Poland and the Soviet Union"
(Jewish

Lorenzo's Oil Essay
Ethical Theories and Ethical Principles Applied to Lorenzo's Oil Movie Lorenzo's Oil is a movie
about a young child diagnosed with a very rare, inherited neurological disorder called
Adrenoleukodystrophy (ALD). A boy named Lorenzo Odone was diagnosed with ALD. Throughout
the movie his parents, Augusto and Michaela Odone, along with other characters, demonstrate many
ethical theories. Teleology, deontology, virtue ethics, and divine command ethics theories are all
expressed in this movie. Lorenzo's Oil also demonstrates the ethical principles of beneficence and
veracity. The condition of ALD had various effects on families affected by this diagnosis. After
examining the different ethical theories, ethical principles, and the effects on families, a person may
wonder what they would do in the same situation. Ethical Theories Applied Teleological Theory The
teleological theory is concerned with the outcome of actions. The word "telos" is Greek for the word
"end." By having the word "end" in the name, it means it is based on the consequence or end of the
action. The teleological theory ... Show more content on Helpwriting.net ...
There are many times throughout Lorenzo's Oil to which beneficence is displayed. In one part of the
movie, Augusto's coworkers from World Bank took a collection and donated money for Lorenzo.
Many of the wives of Augusto's coworkers along with female coworkers donated their time to help
the family. The women helped Michaela plan and prepare for the ALD symposium. Wendy Gimble
also showed great beneficence towards the Odone family. She was an ALD mother who befriended
Michaela. Wendy brought food for Michaela and offered her companionship when needed most.
Omouri is another example of an individual which showed beneficence. He flew from Africa to the
United States to help the Odone family. Omouri left his entire life in Africa behind to continue his
friendship with

Lorenzo's Oil Essay
In my opinion, the movie Lorenzo's Oil takes the viewers through the life of a family with a member
that has adrenoleukodystrophy, or ALD. I feel like Lorenzo's parents were correct in doing their own
research and trying to create a treatment of some kind. If parents do not get involved with their
children's diagnosis and try to do more than just settle for what the doctors say, then we would not
have a lot of advanced medicine that we do not. My initial opinion of the Odones is that they do not
want people to tell them what to do or how to do it like when Lorenzo originally acted out in class.
In the beginning, I felt that Lorenzo was just going through a phase and his school teachers were
over reacting to such simple actions. After Lorenzo's parents went to the doctors, I feel like the
doctors did not want to try to figure out what's wrong, therefore the family's initial reaction was
shocked when the diagnosis was something as extreme as ALD. I felt it was justified, yet the parents
should have acted a bit more. This comes from the mom only crying a little bit. If I was the parent in
this situation I would be more proactive and find out how to help my child rather than to be sad
about the medical diagnosis. I didn't appreciate the parents, in general, at the ALD support group
due to the fact that they cared more about themselves then their children. This was very rude in my
eyes, when you are a parent you live for your child, not for yourself. I feel like if I was

Lorenzo Odone Movie Psychology
Lorenzo Odone was a young man in the 1980's that had a rare condition of Adrenoleukodystrophy,
which is a condition that disables ones metabolism to break down long chains of fatty acids.
Adrenoleukodystrophy or otherwise known as ALD occurred in most boys in their early childhood
and in most cases they never made it past child hood. Young boys were either left as vegetables till
their teen years while others died early on. Patients, such as the young boys, should not be forced to
suffer due to the parents struggle with the thought of or the actual loss their child. The patient should
have a voice on whether or not he or she would like to go through treatments or just live peacefully.
Now, this is not to say that parents of young adolescents should not have a say in what kinds of
treatments their child gets. It would be immoral to tell a parent that he or she cannot decide what is
right for their child, especially if their child does not have the mind capability to respond to
treatment methods. Such as in the movie when Lorenzo's mother wanted to keep moving on with
treatments even though Lorenzo had become a vegetable. Michaela did not want to give up hope
that Lorenzo would make it out alright, which is fine for a parent to do. That being said ... Show
Though Lorenzo could no longer speak clearly again he was able to roughly communicate using his
eyes, if he looked up it meant no and no movement or blink was yes. Even though he could not
impact with his opinion based on only yes or no he could still get his opinion out when asked the
right questions. Leading to that patient's body and what could and could not be done to it. Not only
do patients have opinions, but they would like their opinions to be heard. Not to say that they do not
need to obey, but it would be an appraisal for them if someone would pay attention to what the
patient wanted rather than a family member or

Adrenoleukodystrophy Case Study
Adrenoleukodystrophy was first identified in the late 19th century. Many of the cases prior were
usually misdiagnosed, such as "diffuse sclerosis" (Engelen, et al., 2012, p. 1) and "Addison–Schilder
disease" (Engelen, Kemp, Poll–The, 2014, p. 1). These different phenotypes of X–ALD were often
misdiagnosed because of improper tools and knowledge of the disease. Two men, Simmering and
Creutzfeldt, were given credit for identifying the first case of Adrenoleukodystrophy due to the
connection between cerebral demyelination and Addison's disease; however, Schaumburg and
Powers gave the name Adrenoleukodystrophy and said that it could be a "lipid storage disorder"
(Engelen, et al., 2012, p. 2). The disease was thought mostly to only be found in males. ... Show
It was concluded that CALD is "the most rapidly progressive and devastating phenotype of X–
ALD" (Engelen, et al., 2012, p. 3). It is most common in children, but never "before the age of 2.5
years" (Engelen, et al., 2012, p. 10). Children's CALD lowers mental abilities including
"visuospatial and visuomotor functions or attention and reasoning" (Engelen, et al., 2012, p. 3).
Since CCALD affects attention, it is often "misdiagnosed as attention deficit hyperactivity disorder"
(ADHD), causing the diagnosis of CCALD to be impeded (Engelen, et al., 2012, p. 3). More
neurological issues, such as seizures, ataxia (loss of body movements), and hemiparesis (weakness
of the left or right side of the body) become prevalent as the disease worsens (Engelen, et al., 2012).
Some of the symptomatic boys can become blind, bedridden, unable to walk and eventually result in
having 24–hour care and have to be "fed with a nasogastric tube" (Engelen, et al., 2012, p. 3). These
sudden neurologic affects are caused by "severe inflammatory demyelination" (Engelen, et al., 2012,
p. 3). The demyelination can occur early on, even when only located in the corpus callosum.
Symptoms can progress in weeks to months for CCALD (Engelen, et al., 2014). The diagnosis for
this particular phenotype is often identified through an MRI that shows "abnormal signal intensities"
in the corpus callosum and/or frontal white matter within the brainstem (Engelen, et al., 2012, p. 3).
The MRI is the "only tool to detect this evolution in an early stage" (Engelen, et al., 2012, p. 3).
Figure 2 shows an MRI of a patient with childhood cerebral ALD; the focus is on the change in
white matter in the "parieto–occipital region" between the different images (Engelen, et al., 2012, p.

Lorenzo's Oil: A Short Story Of Lorenzo Oil
Kearies Donelson 1B Chemistry I September 7, 2016 "Your illness does not define you; your
strength and courage DOES"! Lorenzo Oil is a very good movie. Its pretty much about a little boy
generous and just a few months later he founded a health problem within himself. Wouldn't think
how intelligent he is something so major would happen to little old him. July 1983 in East Africa
that was this little courteous boy name Lorenzo .Lorenzo love to draw and he was very intelligent.
In Washington, DC three months later everything changed about Lorenzo. He started acting out,
destroying things and screaming out for no reason. No one knew what had gotten into him so the
parents takes Lorenzo to the doctor to make sure everything is going good with him. ... Show more
They found out Lorenzo had ALD (Adrenoleukodystrophy) and he might die in two years. For ALD
there wasn't any type of cure or treatments. By May 1984 they put Lorenzo on a diet. The parent
found out that the diet wasn't benefiting him it was making him worse During the time Lorenzo
stopped doing normal things such as eating with forks/spoons, walking and talking. So they had to
put him on a suction machine. His parents tried feeding him olive oil to see will it help him. By
November 21, 1989 they continued giving Lorenzo the olive oil. The olive oil made him have a
seizure because of his saliva while taking it in so his parents so that. Lorenzo starts getting worse
and worse so they put him in the hospital. March 1986, 23 months after his disease was founded
Omuri came to see Lorenzo and sing to him. All that did was make Lorenzo calm and put him to
sleep. Lorenzo's parents try to give him oil to eat again but not Olive oil this time. 6 months later
September 1986, the oil starts to benefit Lorenzo. Lorenzo starts communicating through his eyes.
Lorenzo also became able to move his fingers a little. The oil was really making him better in many
ways. He also

Children With Special Needs A Wonderful Part Of Our World...
Children with special needs are a wonderful part of our world today. A child with special needs
bring a whole new life to those who they are around. They light up our world when we are around
them and do not see when there is trouble with different issues. After watching the two movies,
Lorenzo's Oil and The Other Sister, my eyes were opened even more about living with children who
have special needs. Lorenzo's Oil is based on a true story of Michalla and Augosto Odone and their
son Lorenzo. When Lorenzo is just five years old he is diagnosed with a disease called
Adrenoleukodystrophy also called ALD. Once he is diagnosed the Odone's do everything they can
to find a cure for this terminal disease. After talking with doctors they find out that Lorenzo only
had about two years to love. With that being said both Michalla and Augosto do everything in their
power to lengthen his prognosis. ALD is a genetic disorder that is X linked. This disease causes the
body to not be able to break down the long chain of fatty acids, because of this then the myelin
sheath that is around the nerves in the brain and the spinal cord begins to deteriorate. There are
many different symptoms that one produces such as: hyperactivity, decreased school performance,
difficulty understanding verbal communication, hard time swallowing, muscle spasms and change in
muscle tone, loss of hearing, visual impairment or blindness, and seizures. These are just some of
the symptoms that ALD patients have. Despite

Ethical Theories Of Ethical Decision Making
This paper is about ethical decision making that involved a case study in a movie based on a true
story. It is about a child named Lorenzo Odone, his disease, adrenoleukodystrophy (ALD) and how
both his parents relentlessly pursued to find treatment for him. Aside from Mr. and Mrs. Odones'
decision making, the doctors and scientists involved in Lorenzo's treatment were just as affected.
These characters were faced with ethical issues that arose when deciding proper course in finding
treatment for Lorenzo's ALD. This paper will discuss the four ethical theories of decision making
seen in the movie and the effects it had not only on Lorenzo but everyone that was involved. Ethical
Theories and the Movie There are four theories that commonly ... Show more content on
Helpwriting.net ...
This theory is opposite of teleological. The decision making for this approach is dependent on the
act itself than the consequence of it. Edge & Grove (2006) provided a great case study in their book
as an example of deontological. In the case study, they stated two good friends were working
together and one accidentally breaks an equipment. He asks for his friend to not mention it to
anyone but when the manager questions the incident the next day, the deontological decision would
be to tell the truth since lying about the incident is not a proper duty of an employee (p.

Adrenoleukodystrophy Research Paper
Adrenoleukodystrophy, or ALD, is a deadly genetic disease that affects 1 in 35, 000 people. It most
severely affects boys and men. It knows no racial, ethnic, or geographic barriers. ALD is currently
not curable, but doctors can help slow progression. Symptoms of ALD include weak muscles, poor
appetite, weight loss, paralysis, seizures, developmental delay , mental retardation , and vision and
hearing impairment. Treatment methods differ depending on the type of ALD one has. Steroids can
be used to treat Addison's disease. Other treatments include: physical therapy to loosen muscles,
medication to relieve seizures, or taking Lorenzo's oil to help lower elevated VLCFA levels. This
can harm one's spinal cord, brain, adrenal glands, and testes. ... Show more content on
Helpwriting.net ...
Their bodies don't make enough ALDP. In ALD there is a deficiency in the enzyme that breaks
down VLCFAs, which then accumulate in myelin and the adrenal glands. ALD is an inherited
metabolic storage disease whereby a defect in a specific enzyme results in the accumulation of
long–chain fatty acids (VLCFA) in all tissues of the body. These VLCFA are harmful for cells and
tissues. For reasons that have not yet been resolved brain, spinal cord, testis, and the adrenal glands
are primarily affected. In the central nervous system the buildup of VLCFA eventually destroys the
myelin sheath that surrounds the nerves causing neurologic problems. VLCFA are toxic to adrenal
gland cells and their malfunction causes Addison's disease (adrenal insufficiency). Though there is
no actual treatment to curing ALD, there are many ways that one can lessen the progression of the
life–draining disease. Because VLCFA are toxic to myelin, the adrenals and testis, several attempts
were made to lower the plasma concentrations of VLCFA. Dietary restriction of VLCFA intake
alone has no effect on plasma VLCFA levels. VLCFA are primarily synthesized via chain–
elongation of shorter fatty acids. Addition of mono–unsaturated fatty acids to the culture medium of
ALD fibroblasts reduces the VLCFA concentrations, probably by competitive inhibition of the
endogenous elongation system of saturated fatty acids. This formed the basis of a dietary therapy.

Metabolic Disorder Research Paper
Types of inherited Metabolic disorders
Lysosomal storage disorder
Spaces within cells which break down unwanted products of metabolism are called lysosomes.
Several enzyme deficiencies within lysosomes may lead to creation of toxic elements resulting in
metabolic disorders comprising–
Hurler syndrome – It is also known as abnormal structure of bone and delay in growth.
Niemann–Pick disease– It is a disease wherein which babies suffer from feeding difficulty, nerve
damage and develop enlargement of liver.
Tay–Sachs disease– it is a developing weakness within a months old baby, developing to severe
damage of nerve. In such cases a child usually does not live beyond the age of 5 years.
Gaucher disease– This disease involves, enlarged ... Show more content on Helpwriting.net ...
They are comprise of pain in extremities during childhood, with heart and kidney disease and stroke
in adulthood.
Krabbe disease– It refers to progressive damage of nerve, delayed development in young children
and occasional adverse effect on adults.
Galactosemia
Impaired break down of sugar galactose results in vomiting, jaundice and enlargement of liver post
breast feeding or forluma feeding to a newborn.
Maple syrup urine disease
In this disease, deficiency of BCKD enzyme results in creation of amino acids in our body. The
result is damaged nerves and smell of urine is like that of syrup.
Phenylketonuria or PKU
Deficiency of enzyme known as PAH leads to high amount of phenylalanine in our blood. The
results in mental retardation if not recognized early.
Glycogen storage diseases
Problem with storage of sugar causes low levels of blood sugar , pain in muscles and weakness.
Mitochondrial disorders
These are the problems within mitochondria which is the powerhouse of cells. This condition results
in damage of muscles.
Friedreich ataxia
Problems relevant to frataxin protein cause damage of nerves and often results in heart problems. It
can also lead to inability to walk from young

Adrenoleukodystrophy Research Paper
Adrenoleukodystrophy (ALD) is known for its horrific defects in children mainly boys. This disease
affects the adrenal glands and white matter of the brain (http://www.x–ald.nl/clinical–
diagnosis/facts–on–x–linked–adrenoleukodystrophy/ ). ALD causes the loss of the myelin sheath
around nerve cells–demyelination which is responsible for brain degeneration. Myelin causes the
insulation and functioning of nerve cells therefore without myelin the nerve cells do not function
normally by not sending impulse. Most unfortunately, the myelin does not repair itself; overtime the
disease worsens and eventually leads to death. The most common symptoms of this disease are
change of behaviour, hyperactivity, loss of memory, weakening of the muscles, difficulty ... Show
VLCFA should be metabolized by a certain enzyme which is absent in ALD boys. ALDP is the
protein that is responsible for the transport of the very long fatty acids to the peroxisome where
breakdown of these very long fatty acids usually takes place. The gene known as the ABCD1 found
in the X chromosome is mutated, leading to non–coding of the ALDP gene
(http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3249072/ ). Demyelination is a major genetic
problem among boys of mainly the ages of 4 to 8. ALD is a recessive sex linked genetic disease that
is inherited mainly through the maternal side of the family if the mother is the carrier. According to
the genetic cross it proved that there is ½ chance of a child to acquire ALD if the mother was a
carrier. According to statistics each year, 1 in every 15000 males acquires ALD. 1/5 Females
(carriers) acquire neurological problems that resemble ALD (http://healthresearchfunding.org/24–
notable–adrenoleukodystrophy–statistics/

What Is Secondary Adrenal Insufficiency?
Adrenal insufficiency is a condition that develops when a large part of the adrenal gland function is
lost. Primary adrenal insufficiency arises due to the damage of the adrenal glands or by using drugs
that halt cortisol synthesis. In contrast, secondary adrenal insufficiency stems from processes that
reduce the secretion of the adrenocorticotropic hormone (ACTH) by the hypophysis as a result of a
pituitary or hypothalamic pathology (the latter is sometimes also referred to as tertiary adrenal
insufficiency).
Adrenal insufficiency is still a significant challenge for both patients and their physicians, but also
scientists and researchers. In the past decade long–term studies with adequate follow–up have
shown surge in mortality and morbidity, ... Show more content on Helpwriting.net ...
In a large number of cases, the disease has a gradual onset, thus the diagnosis can be made only
when the affected individual presents with an acute crisis due to an inadequate rise in cortisol
secretion during a physiologic stress. Such acute adrenal insufficiency (also known as the
Addisonian crisis) is a medical emergency.
On the other hand, the course of chronic adrenal insufficiency is more subtle and insidious, with the
predomination of symptoms such as fatigue, weakness, weight loss, diarrhea or constipation, muscle
cramps, pain in joints and postural hypotension (low blood pressure). Salt craving and low–grade
fever may also be present.
The classic physical finding that can help in differentiating primary from secondary adrenal failure
is hyperpigmentation of the skin or the "suntan that does not fade". Furthermore, patients with
secondary adrenal insufficiency may present with additional symptoms related to pituitary disease
(e.g. menstrual disturbances, loss of libido, galactorrhea, or

Adrenoleukodystrophy (ALD)
What is it?
Adrenoleukodystrophy or otherwise know as ALD is a genetic and metabolic disorder in ,which
long chains of fatty acids are deposited in the adrenal cortex and the nervous system, since the
enzyme that breaks down fatty acids is not produced. The myelin sheath of the nerve cells and brain
begins to deteriorate and weaken. The myelin sheath is responsible for protecting and covering the
brain and nerve cells. When it becomes damaged neurological damage happens which is
irreversible. As is the case of the occipital lobe. Which is located in the back when it becomes
damaged it can lead to poor vision or blindness. There's two types of ALD ,but the most common is
X–ALD. This means that their is an abnormal gene located on the x– chromosome. ... Show more
Well I can not give you a precise date or time,but with proper treatment we can delay the effects,so
we can make it slow like a snail,however if you do not seek treatment whatever the reason maybe
death may occur in a time lapse of 1 to 10 years.
Am I going to die?
Well every beginning must have its end. Now let's not become pessimistic because life is
beautiful.With proper treatment he can live a long time and a very fulfilling life and experience ,the
beauty that comes along with it. ALD should not make you feel that death is upon your child but
rather to enjoy every minute they are by your side.
What has happened to remyelination?
Research is being done on remyelination since it was not a procedure that was having long term
effects and often would fail.Instead it could leave patients with a scar and sometimes even worse
then they started. Much research is being done to comprehend step by step how this procedure is
carried out, so that remyelination can be adequate and

X-ALD Personal Statement
Nowadays, X–linked adrenoleukodystrophy (X–ALD) is the most frequent inherited disorder of the
central nervous system white matter and there is still no treatment to prevent the course of the
disease, nor to regenerate damaged myelin sheats, according to the x–ald database. These figures are
just one factor that persuades me that my choice of a career in neurosciences was the right one, and
motivates me to study further at PhD level in this field to help combat serious problems like X–
ALD. Thank to my undergraduate education in biology at the Complutense University of Madrid, I
gained a solid background in cell and molecular biology, biomedicine and neurobiology. Afterwards,
as a master student, I have increased my academic training in neurosciences at the VU University
Amsterdam in a highly international and intellectually challenging environment. Due to my
participation in numerous seminars, journal clubs and poster markets, I have developed a strong
critical thinking and remarkable communication skills. I have complemented my education with a
course in mice handling and safety ... Show more content on Helpwriting.net ...
Thereby, I have successfully participated in different research projects in France, Spain and The
Netherlands, and I carried out my own research project at the Complutense University of Madrid,
which led to the publication of a research paper of which I am co–author. My involvement in these
research projects has provided me with hands–on experience in immunohistochemistry, cell
cultures, western blotting, activity assays, and experimental handling of transgenic animal models.
In addition, through these lab trainings, I have become aware of the challenges of research in
neurosciences and I have developed a problem–solving mentality as well as collaboration skills,
often with colleagues from a wide range of nationalities and academic

Lorenzo's Oil
Introduction
The history of Lorenzo's Oil derived from one story, based on a young man named Lorenzo Odone
and his parents will and dedication to help him survive and regain his loss of functions. It began at
the age of five, when Lorenzo's teacher's first noted a bad behavioral change. After witnessing the
behavioral change themselves, Lorenzo's parents, Michaela and Augusto Odone, took it upon
themselves to get Lorenzo tested. After being checked out by several doctors it was confirmed that
Lorenzo indeed had X–Linked Adrenoleukodystrophy and would only survive a few more years.
Upon hearing the news, "His parents, however, were not content to accept this prognosis and began
their attempt to find a cure, or at least a treatment" (Rick, 2013, ... Show more content on
Helpwriting.net ...
7). Oleic acid is a monounsaturated C–18 and is the principal component of olive oil (Pratt &
Corney, 2004, p.234). Pure oleic acid would be toxic to organisms, animal or human, and would
need to be in the edible triglyceride form. Erucic acid is the common component in rapeseed oil
which is a common food in China and India and results in lower rates of heart disease. Rapeseed oil
had the highest yield of oil of any crop (Pratt & Corney, 2004, p.424). The oil is used orally with a
restricted diet. Although the oil is helpful, it does not hold the cure to the disease. "From the initial
studies examining the role of this mixture in X–ALD, it was very apparent that it did not alter the
progression of cerebral disease in affected individuals" (Raymond, 2010, n.p.) The oil, in no way, is
able to help regain any lost myelin, instead the oil's main purpose is to serve as a regulator and
normalize any of the fatty acids accumulating in the brain. Due to its lack of help regaining myelin,
the oil is used in the early stage of diagnosis. "In the early 1990's several groups independently
began studying the use of Lorenzo's oil as a preventative therapy – an agent that would either
prevent cerebral disease in boys who were at risk, but unaffected or slow the progression in men
with adrenomyeloneuropathy" (Raymond, 2010, n.p.). By using the oil in an early stage,

Tay Sachs Vs Ald Research Paper
It has come to my attention that you believe Tay–Sachs disease is less devastating than ALD. To
make an assumption does not do you justice and I am here to inform you on each of these
demyelinating diseases so you can understand why in fact Tay–Sachs disease is in fact more
devastating than ALD
Myelin, the common factor in each disease, is a subsatnce that surrounds and insulates axons on
some nerve cells, allowing for a faster transporting of signals and proper functioning of the nervous
system. A demyelinating disease results in the damage of nerve fibers in the brain and spinal cord
due to the myelin sheath being destroyed, which is life threatening.
Adrenoleukodystrophy, more commonly known as ALD, can be easily understood if one knew

Jon2 Case Study Essay
In the case of Jon2, the author Jane employed strong reasoning skills to assist in the proper diagnosis
of the child. Initially, her responsibility was to evaluate the child's motor skills and determine if Jon
qualified for treatment at their facility. Jane's evaluation included her own observations and
measurements, but also the subjective observations given by Jon's caretakers who could better–
provided details on Jon's history of treatment and daily activities. As a result of her detailed
evaluation and note taking, Jane determined that Jon's condition showed signs of abnormalities, but
not consistent with stroke of cerebral palsy and needed further tests to support the hypothesis that
there might be something else afflicting Jon. The fact that the caretakers kept mentioning Jon's
irritability increased when he began teething kept bothering Jane and ... Show more content on
Helpwriting.net ...
Fortunately, Jon had a routine visit scheduled and the caretakers were able to press the doctors into
reexamining Jon, but the doctors still maintained an egocentric diagnosis of cerebral palsy.
Eventually, the correct diagnosis turned out to be a rare condition, adrenoleukodystrophy, that could
have easily be overlooked by many medical clinicians. In the case of Jon, the doctor's rush to
diagnose and their over efficiency (Barrows & Pickell 1991, p.74)3 in their evaluation failed to
adequately listen and search the information provided by the caretakers of Jon. Even though it was
too late to adequately help Jon in this case, Jane's reasoning skills were pivotal in establishing a new
hypothesis for reexamining his condition. Jane was able to collect and assess information that was
overlooked for 11 months by taking the adequate time to listen, look, and observe. Ultimately from
the case of Jon, Jane has learned the valuable lesson of listening to develop a better approach to
working with patient's in the

Lorenzo's Oil
1. What is the movie all about? Lorenzo's Oil Lorenzo is the son of Michaela and Augusto Odone.
He begins to have strange memory problems and blackouts. At age 6, he is diagnosed with the
childhood cerebral form of ALD, a progressive degenerative nervous system disorder. There is no
cure for this disease and his parents are told he will become totally disabled and die in a few years.
Michaela and Augusto, devastated by Lorenzo's diagnosis, decide to research ALD even though
neither has a scientific or medical background. The movie shows the Odones often working at odds
with skeptical doctors, scientists, and support groups. Michaela and Augusto spend countless hours
in medical libraries reading journal articles and talking to ... Show more content on Helpwriting.net
...
Clinical Features: 1. Male Phenotypes (6) * * 48% – Childhood ALD * 26% –
Adrenomyeloneuropathy * 10% – Addison Disease Only * 8% – Presymptomatic/Asymptomatic *
5% – Adolescent Cerebral ALD * 3% – Adult Cerebral ALD 2. Female Phenotypes (2) * * 85–95%
– Asymptomatic * 10–15% – Adrenomyeloneuropathy – late onset, less severe Carrier Detection
Testing of at–risk female relatives for carrier status is a two–step process: 1. Measurement of plasma
concentration of VLCFA (Very long chain fatty acids) is performed first; if abnormal, the female is a
carrier. 2. Because 20% of female carriers have normal plasma concentration of VLCFA, molecular
genetic testing should be used to test those females with a normal concentration if the disease–
causing ABCD1 mutation has been identified in the family. Risk to Family Members 1. Parents of a
male or female proband * Approximately 95% of individuals representing index cases have
inherited the ABCD1 mutation from one parent; at minimum, 4.1% of individuals with X–ALD
have a de novo mutation. Evidence of germline or somatic/germline mosaicism is present

Lorenzo's Oil: Adrenoleukodystrophy (ALD)
1. The movie Lorenzo's Oil challenges some of the medical assumptions made around the disease
Adrenoleukodystrophy (ALD). Firstly within the movie, during the initial diagnosis of the disease,
Dr.Nikolais informs the family there was is cure for ALD. The Odone's refuse to accept this fate of
their son and challenge this by discovering an oil that appears to 'cure' ALD. Secondly within the
film is it explained that with ALD, elevated very–long–chain fatty acids (VLCSFA) levels lead to
deterioration of myelin sheaths around the nerves. Once these nervous systems are destroyed, the
disease causes the child to live in a comatose state until death. The Odone's again challenge this
assumption, as within the movie the child comes out of his comatose state. During the movie there is
also medical research being carried out by some doctors who believe that reducing the dietary intake
of fats will in turn reduce the VLCSFA levels within ALD suffers. The Odone's partake in this
research but soon discover within their research this will diet would not be effective. With the
assumption that doctor know best, nobody wants to accept the Odone's research and findings. 2.
Lorenzo is fighting a disease called Adrenoleukodystrophy, or ALD. ALD is a ... Show more content
on Helpwriting.net ...
I really felt guilt played a massive role in Michaela's devotion to her son. When Michaela is told by
the doctor that ALD is caused by genetics and that she had passed the condition on to Lorenzo she
appeared devastated. Lorenzo's parents were already deeply saddened by this disease affecting their
son, but on hearing Michaela was the parent to cause Lorenzo to inherit the condition, I felt the
movie portrayed her devotion to Lorenzo change, leading me to believe she felt guilty. She is also
portrayed within the movie as being extremely overprotective especially towards the level of care
that he receives. I do think Michaela is just caring for her son as most mothers would, but I feel guilt
also plays a massive role in her

A Correlation Between the Corpus Callosum and...
A correlation between the corpus callosum and "developmental language disorders"
Abstract:
Various types of language disorders affect a considerable amount of children academically and
socially worldwide. This article focuses on developmental language disorders (DLD) caused by
central auditory processing disorders (CAPD). A CAPD is defined as showing "difficulties
discriminating, identifying and retaining sounds after the ears have "heard" the sounds." Both
language and auditory are processed in an infinite number of nuclei throughout both hemispheres of
the brain. Thus it has been hypothesized that abnormalities of the corpus callosum (CC) are
correlated with deficiencies in auditory and language processes. This article reviews ... Show more
I am using the general term "language disorder" because there is not enough information on any one
particular disorder. Both language and audition are fairly new areas of research in the world of
psychology, in addition to both being very complex processes. Thus this critic deals with auditory
language comprehension of people with dyslexia, developmental learning disorders, reading
disabilities, central auditory processing disorders, and x–linked adrenoleukodystrophy.
Auditory processing of language in a normal brain is thought to encompass the entire brain and that
is a major reason why it so difficult to come to an agreement on how language is processed (Obler
and Gjerlow, 1999). A very popular model though is the Personal Model proposed in the early
1980's. This model states that the central auditory nervous system is made up of many integrating
neural systems. Large myelinated fibers, as well as smaller secondary fibers, interconnect these
neural systems. As information is processed, the further (and higher) it travels into the brain the
more sophisticated and complex information is being processed. (see figure 1). For example at the
cochlear level the pitch, tone, and frequency of the sound is processed, but as you go into the
specific cortices the morphology, pragmatics, prose, etc. of what is spoken is being processed. And
finally sensations (ex. audition) are not specifically part of the newer

A Genetic Disease That Destroys The Myelin Sheath Of A...
Affecting 1 in every 18,000 people, Adrenoleukodystrophy (ALD) is a genetic disease that destroys
the myelin sheath surrounding a brain neuron. A brain neuron is an essential cell body that is
responsible for muscle contractions and ultimately, our ability to move. Adrenoleukodystrophy is a
devastating genetic mutation that affects X–chromosomes in both males and females. However,
because males only have one X–chromosome, the outcome is catastrophic. As said,
Adrenoleukodystrophy is a x–linked metabolic disorder that progressively breaks down the myelin
sheath around a brain neuron. The myelin sheath is an insulating membrane that is responsible for
allowing electrical impulses to transmit effectively through cell body's. Without it, the brain can no
longer relay messages to other systems in the body. The loss of myelin is accompanied by
dysfunction of the adrenal gland and inability to move. The breakdown of the myelin sheath is
caused from a mutation of the gene that makes the Adrenoleukodystrophy protein (ALDP). This
ALD protein helps the body metabolize saturated very–long–chain fatty acids found in the serum
and tissues of the central nervous system. The newly mutated gene no longer acts as a help aid to
breaking down the long–chain fats. Therefore, the body starts accumulating an abnormal amount of
fat in the nervous system, adrenal gland and testes that sets off an unusual response in the immune
system; demyelination. Adrenoleukodystrophy is one of many genetic

Genetic Disorder In The Film Lorenzo's Oil
In the movie Lorenzo's Oil it covers the story of a family whose son is struck with an disease called
(ALD) or Adrenoleukodystrophy. ALD is a genetic disorder caused by a defect of a certain gene that
is related to several related issues one is ALD. ALD only affects males, but females can only be
affected by becoming a carrier for the genetic fault. ALD affects process of taking in fats like C–24
and C–26 which because they cant be taken in safely damage the myelin. The myelin acts as a
protective coating around the brains nerves causing the afflicted person's physical and mental health
begin to degrade. In Lorenzo's Oil, Lorenzo Odone is the son of Michaela and Augusto Odone.
Lorenzo is stricken with symptoms of ALD at the age of 5 and his

Gene Therapy
How can Gene Therapy be used to Treat or Prevent Disease?
Discussion
In the last two decades, gene therapy has improved from mental concepts to clinical trials and
laboratory experiment. Gene therapy is a technique that is currently being tested to see if genes can
be used to treat or prevent disease. This method can successfully be able to replace a mutated gene
with a healthy copy, knock out a mutated gene that is not functioning and introduce a new type of
gene in the body to help fight a disease a human being may have. Gene therapy is a work in progress
system that basically inserts a "normal" genome to replace the gene that is "abnormal" and causes
disease. Gene therapy have shown magnificent progression in animals. In mice, it has ... Show more
Women may not want to get pregnant because they are aware they have a genetical mutations
related to mtDNA. Researchers wanted to see if they can use gene therapy to prevent births with
genetic disorders. They replaced the mtDNA in an egg from a healthy donor. The stem cells were
not successful for humans but did work better on monkeys. This technique was experimental and
showed the potential gene therapy has.
Gene therapy testings are not always successful when experimented on humans. However, the
technique has been effective on animals. Scientists used gene therapy to change EphB2 levels in
mice. The study showed that once levels were reduced they had memory problems like mice with
Alzheimer's (Roan, 2010). Increasing the level of enzymes in mice prevented memory loss. The use
of gene therapy showed that amyloid proteins binds to EphB3 and causes the level to increase or
decrease.
Conclusion and Future

Lorenzo's Oil Essay
Lorenzo's Oil, directed by George Miller, is a film based on the real–life story of the Odone family.
Shortly after moving from the Comoro Islands to the United States, five–year–old Lorenzo Odone is
diagnosed with adrenoleukodystrophy (ALD) after displaying symptoms of the disease at school and
at home. After failing to find an existing cure for the extremely rare disease, parents Michaela and
Augusto Odone take it into their own hands to save their child. Unsuccessful experimental trials,
countless hours of research, collaborations with scientists, doctors, and support groups, and the
organization an international symposium for ALD led the Odones to create Lorenzo's Oil which still
serves as a treatment for those who carry the defective ALD gene today.
Adrenoleukodystrophy (ALD) is a sex–linked disorder which primarily occurs in males ages five to
ten. The biochemical basis of this disease is related to the metabolism of fat. It is caused by an
abnormality in the ABCD1 gene located on the X chromosome. This prevents the production of
ALDP which functions as a ... Show more content on Helpwriting.net ...
When Lorenzo's levels of VLCFAs rose on the diet, his parents wanted to stop the trial immediately
as they had their son's safety in mind. However, the medical community said to run the trial for the
full six months as it is too early to tell if the data is significant or not as they were in the interest for
professional advancement instead of the well being of their patient. One inaccuracy in the portrayal
of the medical community in Lorenzo's Oil is the medical community frequently uses incorrect
medical terms. For example, at the international symposium for ALD, one of the scientists referred
to fibroblasts as skin

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