Cornelia de Lange Syndrome (CDLS) is a rare genetic syndrome characterized by physical traits like low birth weight, small head size, and limb differences as well as developmental delays. It is caused by mutations in cohesion complex genes and is usually diagnosed based on its physical characteristics. While there is no cure, physical therapy and other treatments can help children with CDLS develop skills and maintain quality of life. More research is still needed to better understand this syndrome and potentially find a cure.
Down syndrome is a genetic disorder which is associated of mental retardation and intellectual disabilities
The physiotherapy can help to manage of children with down syndrome
Down’s syndrome health problems and strategies for careKhulood Alzahrani
- What is Down syndrome
- Incidence and Types of Down syndrome
- General features of person with Down syndrome
- Complications associated with Down syndrome
- Mental health and behavioral problems and its management
- Features Related to Dentistry
- Managements in dental clinic
Of the 415 children in the study (195 girls and 220 boys; mean [SD] age, 363.0 [8.3] days), a consistent association between craniofacial shape and prenatal alcohol exposure was observed at almost any level regardless of whether exposure occurred only in the first trimester or throughout pregnancy. Regions of difference were concentrated around the midface, nose, lips, and eyes. Directional visualization showed that these differences corresponded to general recession of the midface and superior displacement of the nose, especially the tip of the nose, indicating shortening of the nose and upturning of the nose tip.
Differences were most pronounced between groups with no exposure and groups with low exposure in the first trimester (forehead), moderate to high exposure in the first trimester (eyes, midface, chin, and parietal region), and binge-level exposure in the first trimester (chin).
CONCLUSIONS AND RELEVANCE Prenatal alcohol exposure, even at low levels, can influence craniofacial development. Although the clinical significance of these findings is yet to be determined, they support the conclusion that for women who are or may become pregnant, avoiding alcohol is the safest option.
Down syndrome - A Parent's perspectivelauintransit
This PowerPoint was created for a presentation provided to health professionals at my local hospital. I would be happy to present this PowerPoint to any hospital in Queensland, or alternatively, I give permission for this PowerPoint to be used by others for future presentations for health professionals. It was designed to be delivered by parents of a child with Down syndrome. Please feel free to provide constructive feedback on the presentation.
Down syndrome is a genetic disorder which is associated of mental retardation and intellectual disabilities
The physiotherapy can help to manage of children with down syndrome
Down’s syndrome health problems and strategies for careKhulood Alzahrani
- What is Down syndrome
- Incidence and Types of Down syndrome
- General features of person with Down syndrome
- Complications associated with Down syndrome
- Mental health and behavioral problems and its management
- Features Related to Dentistry
- Managements in dental clinic
Of the 415 children in the study (195 girls and 220 boys; mean [SD] age, 363.0 [8.3] days), a consistent association between craniofacial shape and prenatal alcohol exposure was observed at almost any level regardless of whether exposure occurred only in the first trimester or throughout pregnancy. Regions of difference were concentrated around the midface, nose, lips, and eyes. Directional visualization showed that these differences corresponded to general recession of the midface and superior displacement of the nose, especially the tip of the nose, indicating shortening of the nose and upturning of the nose tip.
Differences were most pronounced between groups with no exposure and groups with low exposure in the first trimester (forehead), moderate to high exposure in the first trimester (eyes, midface, chin, and parietal region), and binge-level exposure in the first trimester (chin).
CONCLUSIONS AND RELEVANCE Prenatal alcohol exposure, even at low levels, can influence craniofacial development. Although the clinical significance of these findings is yet to be determined, they support the conclusion that for women who are or may become pregnant, avoiding alcohol is the safest option.
Down syndrome - A Parent's perspectivelauintransit
This PowerPoint was created for a presentation provided to health professionals at my local hospital. I would be happy to present this PowerPoint to any hospital in Queensland, or alternatively, I give permission for this PowerPoint to be used by others for future presentations for health professionals. It was designed to be delivered by parents of a child with Down syndrome. Please feel free to provide constructive feedback on the presentation.
“Automatically learning multiple levels of representations of the underlying distribution of the data to be modelled”
Deep learning algorithms have shown superior learning and classification performance.
In areas such as transfer learning, speech and handwritten character recognition, face recognition among others.
(I have referred many articles and experimental results provided by Stanford University)
Normal Labour/ Stages of Labour/ Mechanism of LabourWasim Ak
Normal labor is also termed spontaneous labor, defined as the natural physiological process through which the fetus, placenta, and membranes are expelled from the uterus through the birth canal at term (37 to 42 weeks
How to Make a Field invisible in Odoo 17Celine George
It is possible to hide or invisible some fields in odoo. Commonly using “invisible” attribute in the field definition to invisible the fields. This slide will show how to make a field invisible in odoo 17.
Biological screening of herbal drugs: Introduction and Need for
Phyto-Pharmacological Screening, New Strategies for evaluating
Natural Products, In vitro evaluation techniques for Antioxidants, Antimicrobial and Anticancer drugs. In vivo evaluation techniques
for Anti-inflammatory, Antiulcer, Anticancer, Wound healing, Antidiabetic, Hepatoprotective, Cardio protective, Diuretics and
Antifertility, Toxicity studies as per OECD guidelines
Embracing GenAI - A Strategic ImperativePeter Windle
Artificial Intelligence (AI) technologies such as Generative AI, Image Generators and Large Language Models have had a dramatic impact on teaching, learning and assessment over the past 18 months. The most immediate threat AI posed was to Academic Integrity with Higher Education Institutes (HEIs) focusing their efforts on combating the use of GenAI in assessment. Guidelines were developed for staff and students, policies put in place too. Innovative educators have forged paths in the use of Generative AI for teaching, learning and assessments leading to pockets of transformation springing up across HEIs, often with little or no top-down guidance, support or direction.
This Gasta posits a strategic approach to integrating AI into HEIs to prepare staff, students and the curriculum for an evolving world and workplace. We will highlight the advantages of working with these technologies beyond the realm of teaching, learning and assessment by considering prompt engineering skills, industry impact, curriculum changes, and the need for staff upskilling. In contrast, not engaging strategically with Generative AI poses risks, including falling behind peers, missed opportunities and failing to ensure our graduates remain employable. The rapid evolution of AI technologies necessitates a proactive and strategic approach if we are to remain relevant.
The French Revolution, which began in 1789, was a period of radical social and political upheaval in France. It marked the decline of absolute monarchies, the rise of secular and democratic republics, and the eventual rise of Napoleon Bonaparte. This revolutionary period is crucial in understanding the transition from feudalism to modernity in Europe.
For more information, visit-www.vavaclasses.com
June 3, 2024 Anti-Semitism Letter Sent to MIT President Kornbluth and MIT Cor...Levi Shapiro
Letter from the Congress of the United States regarding Anti-Semitism sent June 3rd to MIT President Sally Kornbluth, MIT Corp Chair, Mark Gorenberg
Dear Dr. Kornbluth and Mr. Gorenberg,
The US House of Representatives is deeply concerned by ongoing and pervasive acts of antisemitic
harassment and intimidation at the Massachusetts Institute of Technology (MIT). Failing to act decisively to ensure a safe learning environment for all students would be a grave dereliction of your responsibilities as President of MIT and Chair of the MIT Corporation.
This Congress will not stand idly by and allow an environment hostile to Jewish students to persist. The House believes that your institution is in violation of Title VI of the Civil Rights Act, and the inability or
unwillingness to rectify this violation through action requires accountability.
Postsecondary education is a unique opportunity for students to learn and have their ideas and beliefs challenged. However, universities receiving hundreds of millions of federal funds annually have denied
students that opportunity and have been hijacked to become venues for the promotion of terrorism, antisemitic harassment and intimidation, unlawful encampments, and in some cases, assaults and riots.
The House of Representatives will not countenance the use of federal funds to indoctrinate students into hateful, antisemitic, anti-American supporters of terrorism. Investigations into campus antisemitism by the Committee on Education and the Workforce and the Committee on Ways and Means have been expanded into a Congress-wide probe across all relevant jurisdictions to address this national crisis. The undersigned Committees will conduct oversight into the use of federal funds at MIT and its learning environment under authorities granted to each Committee.
• The Committee on Education and the Workforce has been investigating your institution since December 7, 2023. The Committee has broad jurisdiction over postsecondary education, including its compliance with Title VI of the Civil Rights Act, campus safety concerns over disruptions to the learning environment, and the awarding of federal student aid under the Higher Education Act.
• The Committee on Oversight and Accountability is investigating the sources of funding and other support flowing to groups espousing pro-Hamas propaganda and engaged in antisemitic harassment and intimidation of students. The Committee on Oversight and Accountability is the principal oversight committee of the US House of Representatives and has broad authority to investigate “any matter” at “any time” under House Rule X.
• The Committee on Ways and Means has been investigating several universities since November 15, 2023, when the Committee held a hearing entitled From Ivory Towers to Dark Corners: Investigating the Nexus Between Antisemitism, Tax-Exempt Universities, and Terror Financing. The Committee followed the hearing with letters to those institutions on January 10, 202
June 3, 2024 Anti-Semitism Letter Sent to MIT President Kornbluth and MIT Cor...
Research Paper for Senior Project
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Ansley Carl
Ms. Bennett
British Literature
7 October 2011
What it is like having CDLS
I have worked with children who have genetic diseases that are very rare. Cornelia Du
Lang Syndrome is the syndrome I have zoned in on because of how rare it is. This syndrome has
certain characteristics that can diagnose this disease but there is no cure. Cornelia Du Lang
Syndrome is a genetic disease that is a recessive trait and not always passed down from parents
to each child. The specific traits you can see physically from this syndrome are: birth weight
which is usually under five pounds and two and a half kilometers, size, head size which results in
Microcephaly which is a neurological development delay, facial features which are commonly
noticed as thick eyebrows that meet at the midline, and limb differences (Chrzanowska). Other
traits caused from this syndrome, which are not as common, are heart defects, hearing
impairments and vision abnormalities (Chrzanowska). These different traits are specifically
drawn to this syndrome and allow doctors and researchers to locate CDLS quicker so they can
start treatment for the child. Cornelia Du Lang Syndrome is a genetic disease that children get
from a recessive gene from their parents; this Syndrome is very rare and has no cure, but there
are ways to help maintain the quality of life for these children.
Cornelia Du Lang Syndrome is a genetic syndrome that is very rare and only common in
one of 10,000 children. CDLS can be noticed just by facial and limb differences. The physical
traits seen in CDLS are: facial features, development delays, behavioral issues, limb differences,
and at birth the size, weight and head size of the infant (Chrzanowska). A main trait of CDLS is
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Gastro Esophageal Reflux Disease (GERD) which is a common characteristic that children have
with CDLS; this is an eating disorder which makes it painful to eat and also causes behavioral
issues. The behavioral issues children have are not communicating how they feel or just not
answer a question or comment. They also have shut down and not do anything. A lot of physical
therapists have dealt with this during an appointment with the child (Butler). Bethany Butler is a
physical therapist who works with a child who has Cornelia Du Lang Syndrome. Bethany is also
the founder of B.E.A.T.S Inc. B.E.A.T.S Inc. stands for Bethany’s Equine and Aquatic Therapy
Services, this foundation is run to help all different children with disabilities and help them
function better as a child. Bethany has worked with more than one child with CDLS for years
now and understands the requirements for this syndrome (Butler). Butler explains; “This disease
can have progressing effects and digressing effects; the child I’m working with was progressing
tremendously and now is digressing rapidly (Butler). CDLS has no cure and it takes a lot of
work to help the child’s life stay as normal as possible. Physical therapy is the number one way
to have positive ways to help children greatly with this syndrome (“New Genetics and De Lange
Syndrome Study Findings).
The research already done on this topic has to do with the characteristics of the disease
and how to maintain it and what to do with a child who has this disease. When diagnosing with
CDLs doctors will do tests. The testing has to do with getting a blood sample and testing it for
certain genetic dysfunctions that are in the blood. When CDLS is confirmed with the diagnoses it
is best to have the child in some kind of therapy to help them develop correctly (U.S National
Library of Medicine). Having this disease requires children to be placed in special classes at
school and given special treatment to prevent the syndrome from getting worse (Vasich).
Researchers also have found out that CDLS allows children to live to the moderate living time
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for a regular person (Vasich). The different ways that are given to children allows them to have
control of the syndrome. This is why children see physical therapists and have certain diets. This
syndrome even being rare is crucial to find a cure, because no one knows when they are a carrier
of it and if their child is at risk.
Therapists such as Bethany Butler choose to work with children with CDLs because it
allows children to have a place in the world (Butler). Butler says, “Working with these children
has helped me be a better person in life and appreciate having my own children”. The therapy
needed helps the limbs and stretches of the stomach to not hurt the child constantly (“Gene
Discovered”). Each child is affected differently and some more severe more than others. CDLS
affects walking and talking because it zone in on the genetic dysfunction in the body (“Gene
Discovered). The main gene this disease effects is cohesion complex which holds sister
chromatids together during meiosis I and helps make sure that they segregate to opposite poles
during meiosis II and a chromatid is a single strand of DNA that is compacted. Also researchers
have found that on chromosome X and this disease currently can be on them (“New Genetics and
Du Lange Syndrome Study Findings”). CDLS is also a syndrome that presents itself the same
way all the time; it shows up differently which also shows how rare it is.
This syndrome is also a disease that can be maintained very easily and the child will live
a life just with regulations and help. Researchers have concluded that CDLS has no cure and will
be trying to find one but because it is genetic it is hard to do (Vasich). CDLS has been around for
years. It is a syndrome that will be “quiet” then come back and affect many children, which
means that this syndrome will effect a few children for a certain time then it will not show up for
an even longer period (“New Genetics and Du Lange Syndrome Study Findings”). What is found
about this syndrome is by the inherited gene from the parent or parents who carry it. SMC1A
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gene mutations have an X-linked pattern of inheritance. A condition is considered X-linked if the
mutated gene that causes the disorder is located on the X chromosome, one of the two sex
chromosomes (“New Genetics and Du Lange Syndrome Study Findings”). CDLS shows also a
form of autism that affects children in everyday life (“Gene Discovered”). CDLS and autism
both have similar characteristics such as, children get both diagnoses hereditary.
Autism is a development disorder that affects the function of the brain (Chrzanowska).
Autism affects many children throughout the world and it is linked to CDLS because Cornelia de
Lang Syndrome shows some characteristics of autism. The difference of why the characteristic
of CDLS is from autism is that CDLS is a syndrome and Autism is a disorder. Also another
difference between the two is the autism is more commonly diagnosed because it is carried by
more people than CDLS (“New Genetics and Du Lange Syndrome Study Findings”). The
similarities of autism and CDLs are severe language delays and learning disabilities
(Chrzanowska). CDLS majorly affects the development disabilities of the original works of the
body. It does not send the correct signals to the body at the right time (U.S National Library of
Medicine). The physical appearances are limb dysfunctions. Many children do not have arms or
legs or feet or hands that correctly develop. Hands and feet are the most common to not
completely develop in most children (Vasich). These effects the way a child can function of
using their hands and feet. Having these disabilities is also another reason why therapy is
involved with this syndrome because it helps the child learn different way to use other hands or
devices to help them in their lives. Many children are affected by these dysfunctions and have to
learn differently than other people without this syndrome. Researchers are still trying to link
other diseases or syndromes to CDLS because they are trying to get more information to how
this disease is occurs (Vasich). Learning this other syndromes is genetically passed down but do
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not make the same effects as does the CDLS gene. This gene is recessive and does not affect
every child.
CDLS is a syndrome that researchers need more information on and the syndrome still
needs a cure. It is a type of syndrome that seems to be on the back burner because of how
maintainable it is. This syndrome affects many children. It does not allow children to be in a
regular school atmosphere. This is because the syndrome affects the way the neurological brain
is supposed to work. Many children cannot comprehend the ways of a regular school atmosphere
which is why the children are placed in the special Ed classes, which allows them to learn in
different ways which is more helpful to the children. Many researchers believe that this
syndrome will either dissipate or they will find the true way of how it is coming on each genetic
report (New Genetics and Du Lange Syndrome Study Findings). The reason why researchers
believe that it will dissipate is because it is so rare. Researchers also want to find a cure because
the syndrome is able to help maintain a child’s life.
CDLS is a syndrome that affects children and has different effects on each and every
child because every child has other different traits from their parents, which affects each body
differently. Explaining CDLS with birth weight, size, and head size, having behavioral problems,
drastically different facial features, and sometimes not having limbs is the most common way to
detect this syndrome. Cornelia Du Lang Syndrome is a syndrome that many people do not have
to deal with, but then many people do. This syndrome is very rare and maintainable for a child’s
life, but still has no cure. Children in this life time are still affected. This syndrome still has
researchers on their toes looking for ways to help the children. Not only is this a rare syndrome,
it is not forgotten in research to maybe someday there will be a cure and to help the children with
it.
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Works Cited
Butler, Bethany. Personal interview. 1 Sept. 2011
Chrzanowska, Krystyna H, MD, PhD. “ DE Lange Syndrome .” MedScape Reference.
MedScape Reference . Ed. Dirk M Elston, Md, Albert C Yan, MD, and David F
Butler, MD. Web. 2 Sept. 2011.
<http://emedicine.medscape.com/article/1116397-overview>. This refence tells
indepth information about CDLs. These Editors are experts about this Genetic
Disease.
“Gene discovered for debilitating Cornelia de Lange syndrome.” Women’s Health Weekly
17 June 2004: n. pag. Global Issues in Context. Web. 7 Sept. 2011.
<http://find.galegroup.com/gic/infomark.do?&contentSet=IAC-
Documents&idigest=b527955b5caccdb4b4a2d40e86fe061a&type=retrieve&tabID
=T003&prodId=GIC&docId=A118051994&source=gale&userGroupName=cant4
8040&version=1.0>.
“New Genetics and De Lange Syndrome Study Findings Recently Were Published by
Researchers at Pusan National University, Department of Pediatrics.” Genomics
& Genetics Weekly 21 Jan. 2011: n. pag. Global Issues in Context. Web. 7 Sept. 2011.
<http://find.galegroup.com/gic/infomark.do?&contentSet=IAC-
Documents&idigest=b527955b5caccdb4b4a2d40e86fe061a&type=retrieve&tabID
=T004&prodId=GIC&docId=A247700110&source=gale&userGroupName=cant4
8040&version=1.0>.
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U.S. National Library of Medicine. “Cornelia de Lange syndrome.” Genetics Home
Reference . N.p., 30 Aug. 2011. Web. 2 Sept. 2011.
<http://ghr.nlm.nih.gov/condition/cornelia-de-lange-syndrome>.
Vasich, Tom. “ Researchers discover gene for Cornelia de Lange Syndrome, a disabling
childhood disease .” UC Newsroom [California ] 17 May 2004: n. pag. Global Issues
in Context. Web. 7 Sept. 2011.
<http://www.universityofcalifornia.edu/news/article/6377>.