Dissertation Down Syndrome

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Writing a dissertation is an arduous task, requiring extensive research, critical analysis, and coherent

presentation of findings. When tackling a topic as complex and sensitive as Down Syndrome, the
challenges multiply. This developmental disorder demands a comprehensive understanding of
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Syndrome requires sensitivity, empathy, and a nuanced approach to ensure accuracy and respect for
individuals affected by the condition.

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Taken together, these findings suggest that the structure of socio-emotional response systems is
consistent in these normal and atypical populations, possibly because they are based in underlying
physiological processes related to self-regulation. However, school and guardians play a salient role
in education. The extent of physical problems will depend on the ratio of cells with 46 chromosomes
to those with 47 chromosomes (About-down-syndrome.com, 2006). The third and least common
type is mosaicism, which occurs in about 1-2% in Down syndrome cases. An extra chromosome
chromosome 21 originates in the development of either the sperm or the egg. I also love to read and
I would eat pizza everyday if I could. The majority of children with Down Syndrome are eligible for
free, appropriate public education under federal law (2004). A studentshouldbe in a
classroomwithotherstudents.We needtoinclude thesestudentstolet. The effects of Down syndrome on
the mind can be witnessed in the IQ of children. Another ear, after the same procedure, developed
recurrent cholesteatoma which necessitates a change to a canal-wall-down mastoidectomy. Our
experts will write for you an essay on any topic, with any deadline and requirements from scratch.
Environmental factors such as exposure to pollutants, radiation and medications have been attributed
but have not yet been proven. The teacher also uses this to her advantage because if the focus
student does a good job during the day, they are able to “sing” a song in front of the class (I believe
they pretend to be a famous singer). Moreover it was also seen that patients with Down syndrome at
the age of 30 to 40 develop the same symptoms as those of the patients suffering from Alzheimer
Disease. Technically speaking, chromosomes are the cells which carry the hereditary elements that
people acquire from their parents. Research Paper On Down Syndrome Research paper on down
syndrome. It is a chromosomal anomaly in cell development that results in a person being born with
forty-seven chromosomes instead of the normal forty-six chromosomes. In about 4% of all the cases
of Down syndrome it is seen that the extra chromosome is derived from the robertosonian
translocation from chromosome 21 to another acrocentric chromosome. Finally, any treatment given
must incorporate genetic counseling for the family, social support, and educational programming
suitable for the level of their intellectual functioning (Margulies, 2006). As mentioned earlier, the
severity of signs and symptoms depend on the extent and type of mutation in the chromosomes of
the person afllicted with Down syndrome. Or, one could take the informative approach, if you are
assigned an informative essay, and inform your audience about down syndrome with one of the
focus topics below. We use cookies to create the best experience for you. Initially, when it was
discovered by Down, it was identified as a disorder as he only made observations. People with
down syndrome have been found to be signing up for trials of several drugs aimed at helping their
cognitive impairment. (Underwood 2014). Brian Skotko a medical geneticist who is now the co-
director for the Down Syndrome Program at Massachusetts General Hospital in Boston developed an
intellectual curiosity about the cause of his sister’s disorder, Down Syndrome. Down syndrome is
caused by a chromosome problem that is present when pregnancy occurs. Rett syndrome is one of
the developmental diseases that specifically affects girls. According to the National Down Syndrome
Society (2009), Down Syndrome is most common single cause of human birth defects and the most
commonly occurring chromosomal condition. In the former case, Down syndrome and normal
groups were comparable in chronological growth; in the latter case, the groups were cognitively more
comparable, and prior research had led us to expect more similar responsiveness in the latter case.
Despite all the complications and down falls a child with Down Syndrome may suffer, appropriate
medical care can lead to healthy lives. You are free to use it for research and reference purposes in
order to write your own paper. Percutaneous umbilical blood sampling (PUBS): -This type of test
involves the drawing of umbilical blood from the fetus.
In most cases the condition occurs when two copies of chromosome 21, are unable to separate
properly during the formation of sperm or eggs during the union (Underwood 2014). DOWN
SYNDROME Of INTRODUCTION The life in South Africa circumstances of persons with
intellectual disabilities have changed markedly over the last 10 years (Brown, 2004). We can learn at
any age, and that if you really take the time to learn to communicate with us it would be amazing.
Another academic characteristic is that she has a teacher who comes into the classroom and really
focuses on helping her understand the problem. Especially if I give a test and the student doesn’t
really remember the answer. Another diagnostic test to determine Down syndrome is chorionic villus
sampling or CVS in which a sample of the chorionic villi is removed from the placenta to determine
if the baby has a chromosomal abnormalities or genetic disorders. The Pathway Group Statement of
Beliefs Statement of Beliefs Jeanie Tran 901JM ENGLISH GUIDE SIMPLE PRESENT 901JM
ENGLISH GUIDE SIMPLE PRESENT LUNASARAYCASTIBLANCO Positive interventions
Positive interventions Steven E. It follows, then, that recruitment may lead to sound intolerance. I
have a Downs brother who is fit and well at age 61. At the beginning of the 20th century, the field of
chromosomal disorders was subject to several diverse influences. Thus the majority of people with
Down syndrome have IQs that lie in the range of mild to moderate of IDDs. Stephen turner and his
colleagues reported findings on a research they conducted. University of South Florida Health (2010,
January 15). However, school and guardians play a salient role in education. The three main types of
Down syndrome are now well known and the dominant characteristic features of individuals with
the condition well documented. They also may have atlantoaxial instability which may lead to spinal
cord injury (SCI). For instance, in the infancy periods, the velocity of neuromaturational and
behavioral change is greater than at any other time. Quantitative shape comparison (morphometrics)
traditionally uses anatomical landmarks and is therefore limited by the number of landmarks and
operator error when landmarks are located manually. The project aims to understand critical health
and quality of life needs for individuals with Down Syndrome, with the aim of scientific discoveries
to improve health as well as well-being. Down syndrome is a chromosomal condition in which an
individual possesses extra genetic material specifically an extra complete or partial duplicate of
chromosome 21. Speech language Pathologists may help with conversation skills, pronunciation
skills, understanding skills, understanding what is read as well learning and remembering words.
Earlier research with Down syndrome infants and toddlers has shown that these children reach the
same developmental milestones as normal children, but at a delayed pace. Sequence of deposition of
heterogeneous amyloid beta-peptides and APO E in Down syndrome. In babies suffering from
chromosomal abnormalities it is seen that fluid is accumulated in these folds and the space appears
larger. Chromosomes are rod-like structures located inside the nucleus of our cells which carry all the
genetic information responsible for all our inherited characteristics. One can take an argumentative
stance on this disease arguing that more should be done now to either prevent Down Syndrome or to
help children or adults who have it. For example, the infant's intrinsic biologic vulnerability can be
moderated to some degree by the influence of extrinsic (environmental) protective factors (Stray-
Gundersen, 2005). Down Syndrome Running head: DOWN SYNDROME Down Syndrome In APA
Style Down Syndrome 2 Charles Darwin, a famous evolutionist, Arthur Miller, a famous American
playright, Eva Longoria, a well-known actress and Jamie Foxx, a hip-hop artist. When you have
Down’s Syndrome, some common things they like to do is dance and sing and people who have
Down’s Syndrome don’t care who watches. On the other hand, when the stimulus does not initially
seem so compelling, a longer latency may permit continued appraisal of the event and consideration
of response options; this is particularly likely when the distress response is mild.
In triple screen method three markers are taken and in quadruple screen four markers are taken into
consideration. However in some cases the children do have a normal level of intelligence also. This
paper discus down syndrome approaching it from the perspective views of a health expert. Like
most parents, we are doing our very best, trying to figure things out as we go, making mistakes
along the way, and celebrating the joys our daughter gives to us.” (Photo: Hilary Gauld-Camilleri).
The extra genetic material causes delays in the way a child develops both mentally and physically.
The general tutorial lasts approximately minutes, although there may be a vision of the highest
academic integrity, you should include a comprehensive planning to alleviate poverty. Research essay
writing styles, sociology assignments pdf mit college essay examples youtube business plan writing
writing a restaurant business plan sample free format for writing an english paper thesis. However,
receptive syntax and expressive vocabulary are usually very limited. Children who have trisomy 21
are at the risk of developing acute leukemias. Top of Form Brill, M. T. (2007). Down syndrome. New
York: Marshall Cavendish Benchmark. Olson LE, Roper RJ, Sengstaken CL, Peterson EA, Aquino
V, Galdzicki Z, et al. (2007). Trisomy for the Down syndrome 'critical region' is necessary but not
sufficient for brain phenotypes of trisomic mice. The second cause seemed to be environmental,
related to family living conditions as well as to cultural stimulation from outside the home. The
triple screen or quadruple screen: - In these tests the quantities of substances are measured in the
maternal blood. Clinical examination is moreover significant with the upper airway obstruction that
causes breathing disorders and obstructive sleep apnea syndrome (OSAS); therefore, the clinical
examination is particularly useful in order to pinpoint the cause of OSAS as it occurs due to multiple
reasons. Furthermore, the study will also analyse aspects related to the psychosocial care of children
in hospitals, and legal and ethical issues related to paediatric anaesthetics. We can help students with
Down syndrome by providing them with a supportive and inclusive environment. Thus it is a genetic
disorder that cannot be prevented or treated. Integrated Screen: - In this type of test results are taken
from the first trimester along with blood tests of the second trimester with a quadrup screen. Facial
features are affected differentially in DS, as evidenced by statistically significant differences in
integration both within and between facial regions. The incidence of down syndrome found in the
newborns of United States is 1 in 700. Establishing the exact history of Down syndrome may not be
easy, but one fact that indicates the disease has a long history is that, Down syndrome originates
from a common error in a primary life process (Evans-Martin, 2009). Therefore, in order to improve
the child’s communication, the findings of this research propose that the children should be directed
at natural approaches of interacting with people, encouraged to play with people as opposed to
simply being left alone to engage in their toys. The main problems of misdiagnose are caused by
inadequate standards and symptoms applied to children with Down's syndrome at the early stages of
development. When it reaches the blood supply of the baby, it can cause permanent defects to the
major organs and central nervous system. Predictors of academic attainments of young people with
Down’s syndrome. In addition, they should be given the chance to communicate independently
about things they can do and have the time to do them; the child should be exposed to more and
longer interactions with people. The mental and physical developments are often slower in people
with Down syndrome than in those without it this disorder. Down syndrome infants evinced
significantly less intense separation distress, longer onset latency, and a quicker recovery in
comparison with normal. Due to oral moral skills, feeding is generally a notable complication for
young infants with Down Syndrome. These results indicate that faces of children with DS are
quantitatively more similar to their siblings than to unrelated euploid individuals and exhibit
consistent, but slightly increased variation with most individuals falling within the range of normal
variation established by euploid samples.
Down syndrome was first described by John Langdon Down, an English physician, when he
recognized the cluster of traits common in people and published his findings in 1866. In 1959 Dr.
Jeremy Lejeune discovered the fact that all people with this syndrome had an extra 21st
chromosome. Allele, Cell, Chromosome 852 Words 3 Pages Fibrosis, Down syndrome, and many
others. Gradually with time the awareness about disabled children increased. It is evident that
expressive language tends to decline with age among adults with downs syndrome compared to
receptive language. The physical signs revolving around the syndrome are decreased muscle tone,
flattened nose, small ears, small mouth, white spots on the colored part of the eye which are also
known as brushfield spots. The researchers singles out the main genetic cause of the disease: an extra
copy of genetic material on the 21st chromosome. Here we create a landmark-free method and use it
to characterise the craniofacial skeletal phenotype of the Dp1Tyb mouse model of Down syndrome
(DS), comparing it with a landmark-based approach. It has been estimated that up to 10% to 15% of
White American children are born with a behavioral predisposition toward irritability as infants,
shyness and fearfulness as toddlers, and cautiousness and introversion at school age. Children that
suffer from Asperger syndrome have different brain formalities than those who suffer from autism.
Morphometry Down Syndrome Craniofacial Anthropometry Biomedical Anthropology Craniofacial
Biology Craniofacial Syndromes Dysmorphology Morphological Integration and Mo. 3D Imaging
Morphometric Analysis Craniofacial growth and development Trisomy 21 history of Down
syndrome Mouse models 3D Geometric Morphometrics Developmental Stability 3D Medical
Imaging 3D imaging in medicine See Full PDF Download PDF About Press Blog People Papers
Topics Job Board We're Hiring. It is found that approximately 80% of the children have an IQ of 25
to 50. How to cite an indirect quote apa what are the benefits of homework articles business plan
scope examples undergraduate assignments help online. Keep on browsing if you are OK with that,
or find out how to manage cookies. It is a chromosomal anomaly in cell development that results in a
person being born with forty-seven chromosomes instead of the normal forty-six chromosomes. It
was not until 1946, that a pediatrician named Benjamin Spock announced that all babies born with
Down Syndrome should be institutionalized so they can properly be taken care of. When an infant
with an easy temperament develops a behavioral concern, the clinician should look to situational
stresses or parenting issues as causative factors. Patients suffering from trisomy 21 at the age of 40
and above tend to develop neuropathologic changes and these changes lead to diseases like
Alzheimer disease. Both facial and vocal expressive modalities were used to provide convergent
information about emotional reactions and to ensure that differences between normal and Down
syndrome infants could not be attributed to rating errors due to morphological differences in facial
expressions between the two groups. Teachingthe studentspeerstouse signingif the studentishardof
hearing. The signs and symptoms, modes of prevention, treatment and nursing care of the persons
with Down syndrome and the roles of parents are discussed in the essay (National Institute of
Health, 2010; Heyn, 2010). Clinical examination is moreover significant with the upper airway
obstruction that causes breathing disorders and obstructive sleep apnea syndrome (OSAS); therefore,
the clinical examination is particularly useful in order to pinpoint the cause of OSAS as it occurs due
to multiple reasons. This paper will critically discuss the elements involved in the treatment of
traumatic injuries in children. Quotes accompanying each photo also address the stereotypes that still
exist. The focus student also does not like art and her mom usually comes in and watches over her
while the other classmates are in the art classroom. Additionally, the development of animal models
to help study the syndrome, examination of specific genes and gene groups that may play a role in
the syndrome. One targets a chemical compound that is elevated in the blood in both Down
Syndrome and Alzheimer’s disease. We use cookies to create the best experience for you. Sometimes
if the focus student has been having a good day, they are allowed to sing a song from YouTube in
front of the class as a “performance” of sorts. Let us write or edit the research paper on your topic.
For both groups, distress intensity was positively correlated with contact maintenance and negatively
correlated with distance interaction directed to mother during the reunion episodes.
The studys findings were published today in Current Biology. Many cases of cerumen impaction
may be treated at home, but in cases of auditory canal stenosis, the family may have an
otolaryingologist remove the wax. The exact cause of the genetic mutation in Down syndrome is still
undetermined. Furthermore, the study will also analyse aspects related to the psychosocial care of
children in hospitals, and legal and ethical issues related to paediatric anaesthetics. The risk for
having a child with Down syndrome increases as the maternal age increases. He described these
children as Mongoloids as they had slanted eyes like people of Mongolia. Typically, the cells found
within the human body comprise of a nucleus component that houses chromosomes, which should
be 23, and where half of each of them are inherited from either parent. It is a chromosomal anomaly
in cell development that results in a person being born with forty-seven chromosomes instead of the
normal forty-six chromosomes. I have noticed that on some days the teacher will focus on the focus
student and make sure she understands what the lesson is about. Down syndrome is defined
medically as a genetic condition in which a person has exhibits an extra chromosome, having 37
instead of the normal 36 chromosomes. Language learning requires processing sequences of speech
sounds and internalizing structural aspects of the sounds. Give me your paper requirements and I
connect you to an academic expert. Keep on browsing if you are OK with that, or find out how to
manage cookies. Obesity and other problems should also be looked upon in these patients so that
they do not create problems in their life. When it reaches the blood supply of the baby, it can cause
permanent defects to the major organs and central nervous system. I also sometimes have trouble
with my speech, so I go to speech therapist to help me get better with my speech. Verbal imitation
intervention can serve as the foundation for intervention to tech other verbal behavior such as longer
utterances, manding or requesting, and even intraverbal behavior. (Jones 2013) Intraverbal behavior
involves responses to questions and conversation skills. We can also provide them with resources and
accommodations that will help them succeed in school. However, later on in 1959, scientists ascertain
its origin as being genetic (“Heyn”). NAME: INSTITUTION: Abstract Down Syndrome, also called
mongolism is a hereditary condition occurring due to non-disjunction of chromosome 21 producing
trisomy 21 (William, 2005). The NICHD has conducted and supported Down syndrome research
since its founding including development of animal models to help study the syndrome examination
of specific genes and gene groups that may play a role in the syndrome understanding how maternal
age plays a role in the disorder and development of new methods of diagnosis. 15 hours agoPaper
Citations. Down Syndrome is named after John Langdon Down, the British doctor who first
described it in 1866. We know thatpeople withD.S.that theylove toread,but the. We suppose that you
do not really want to go deep into genetics and write about karyotypes, meiotic nondisjunction, and
so on. Case Studies a) ENT and Speech Disorders in Children with Down's Syndrome: an Overview
of Pathophysiology, Clinical Features, Treatments, and Current Management Pathological processes,
such as ENT disorders, are of considerable significance in the pursuit of boosting life expectancy, as
they are quite frequent and severe in individuals with Down’s syndrome. Given the incidences of
Down syndrome previously recorded, and the above minimum recorded prevalence of 1 in 2084
children, this certainly indicates a significant mortality of Down syndrome infants and children
between birth and 2 years of age (Christianson 1996, PP. 89-90). Parents who give birth to children
with Down syndrome have normal karyotypes and a cause of Down syndrome is the nonmeiotic
disjunction. The student is graded on a scale from 1-4 and the teacher will use this to make the focus
student behave. Whereas risk factors are associated with developmental and mental health
vulnerability, protective factors, in contrast, refer to attributes or situations that would enhance the
infant's resilience or resistance to negative influences. This genetic material is carried by genes and
each and every one of our main characteristics or traits is grouped together next to an imperative
structure called a chromosome.
The authors of this study suggest that for a proper diagnosis physicians need to conduct a clinical
examination and behavioral audiometry depending on the age of the child and their developmental
stage. Currently, there are more than 400,000 people living with Down syndrome in the United
States alone. This is because it encompasses numerous measures such as reading of short passages,
words and non-words including also comprehension (Cupples and Teresa 595). The early oral
reading skill is developed through phoneme segmentation skill. Receive a tailored piece that meets
your specific needs and requirements. In the former case, Down syndrome and normal groups were
comparable in chronological growth; in the latter case, the groups were cognitively more comparable,
and prior research had led us to expect more similar responsiveness in the latter case. However in
some cases the children do have a normal level of intelligence also. The family doctor and
pediatrician were mentioned by just over half of respondents, but considered only moderately
helpful in these areas, mean scores 4. The normal number of chromosomes in an individual is 46 but
in a down syndrome individual, the chromosome number is 47 instead (National Association for
down syndrome 2012). Download Free PDF View PDF A landmark-free morphometric pipeline:
Application to characterise a Down syndrome model skull phenotype Benedikt Hallgrimsson
Characterising phenotypes often requires quantification of anatomical shapes. First, the work of John
Langdon Down, gave language development and academic potential cardinal roles in the
classification of the children with such disorders. This essay would further revolve around Downs’
Syndrome putting forward each and every aspect that is important in understanding the syndrome.
Technically speaking, chromosomes are the cells which carry the hereditary elements that people
acquire from their parents. Reciprocal translocation takes place when segments are exchanged
between nonhomologous pairs of chromosomes. The study also indicated that dyspraxia sets in, a
central nervous system condition affecting speech production. Children with the condition tend to
start developing first words by the age of two. For children, it is important that lesions in the
tympanic membrane are diagnosed by a pediatrician and that the child is then referred to an
otolaryngologist. When a person has Down syndrome they will look slightly different. Age, language
and related skills in adults with downs syndrome Studies based on downs syndrome are increasing
rapidly. Report this Document Download now Save Save Down Syndrome Research Paper For Later
0 ratings 0% found this document useful (0 votes) 172 views 4 pages Prospects for Improving Brain
Function in Individuals with Down Syndrome Through. These measures were created from time-
sampled ratings of infant facial and vocal expressions throughout the Strange Situation (see Method
section). Taking into consideration that there is compromised hearing, phonological and articulation
function, this makes a great impact on speech and language development function (Faught 2016).
Skotko hopes that the drugs he is testing will indeed help clear some of the cognitive obstacles
individual with Down Syndrome face. The ENT disorders comprise upper airway and ear
abnormalities, immunodeficiency and facial dysmorphisms. Accurate knowledge of these disorders is
required in order to avoid their long-term effects or improve their prognosis. It also seems the focus
student has a two students who seems to help her keep on track and do all her work. The most
common symptom in children with Down syndrome is impaired hearing; that occurs because of the
external ear canals being blocked by skin debris and earwax. Typically, most babies can benefit from
assistance when it comes to developing a strong suck and swallow pattern. There is a sneak peak into
my life, some information about Down’s Syndrome, and the difference between the three different
types of Down’s Syndrome. First, the negative relation between onset latency and distress intensity
may reflect how the stimulus event has been appraised by the infant at the moment of its onset.
Down syndrome, also known as Trisomy 21, is a genetic disorder that usually occurs when there is a
full or partial extra copy of chromosome 21.
Cognitively structuring, synthesizing, and organizing the incoming information achieve this. The
congenital disease that someone has will determine the different signs and symptoms associated with
that disease. The parents of a child with Down syndrome should be appropriately counseled. Many
times you can test for congenital disorders by means of ultrasound scans or blood work at as early as
10 weeks and on. These findings greatly influence the study of down syndrome patients, their genes
and their resulting speech, memory, language and other cognitive functions. She has the talking
problem but it was sort of hard to see if she had the visual problems. Another characteristic the focus
student has in the attention delay and problem solving abnormalities according to Horvat. Taken
together, these findings indicate that Down syndrome infants may differ from normal infants not
only in the rate of developmental acquisitions but also in the quality of their socio-emotional
reactions. Keep on browsing if you are OK with that, or find out how to manage cookies. These
chromosomes undergo different type of abnormalities during the genesis of human beings. Severity
of these heart defects can lead to early death of the children suffering from the syndrome. The
nuchal translucency scan can only be done when the mother is between 11 and 14 weeks pregnant.
“Among first-trimester fetuses with increased nuchal translucency measurement, approximately one
third will have chromosome defects, and trisomy 21 accounts for approximately 50% of these
chromosomal disorders. Chromosomes are the basic unit of cells which contain the organized form
of DNA in a coiled form. Technically speaking, chromosomes are the cells which carry the hereditary
elements that people acquire from their parents. The authors imply that this study arose as a result of
the mainstream integration of children with Down syndrome in the school system, and propose the
examination of peer relationships as an appropriate measurement of the success of the integration
project. It was also found that mothers with an age over 35 were more prone to the problem than the
mothers who were below that age. Theyalsomay healthconditions thatwe needtobe aware of such as,
that couldbe a chronichealth. Early intervention programs help to stimulate the necessary centers of
individuals suffering from the syndrome. Statement of Beliefs Statement of Beliefs 901JM
ENGLISH GUIDE SIMPLE PRESENT 901JM ENGLISH GUIDE SIMPLE PRESENT Positive
interventions Positive interventions Positive Interventions Positive Interventions Positive
interventions Positive interventions E.A Down syndrome 1. E.A workfor a Downsyndrome student.
The extra genetic material causes delays in the way a child develops both mentally and physically.
Shaken Baby syndrome predominantly occurs in infants less than one year of age. There are also
some health concerns that you need to worry about. Normal individuals have normal count of
chromosome and in human normal count is 46 chromosomes. Some of the symptoms such as
difficulties in cognitive functions can be mitigated while children are at a young age. More
importantly is that early detection is necessary in order to ensure that the overall life expectancy is
increased. The one important difference to emerge concerns the stronger association between distress
intensity and mother-directed resistance in the Down syndrome sample and suggests that high-
intensity distress may have an added (and somewhat more negative) effect on the attachment
behaviors of the ordinarily more subdued Down syndrome infants. In these cases the extra
chromosomal material is present in a segment of the chromosome and this is known as translocation.
Life expectancy has increased significantly over the last two decades. This is 100% legal. You may
not submit downloaded papers as your own, that is cheating. Also you. Appropriate assistance can
begin shortly after birth and often continues until a child reaches the age of three. My mom also
makes worksheets for me to do so I can understand what we do in school more and they also help
me catch on to the things we learn at school.

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