Progeria is an extremely rare genetic condition that causes children to age rapidly, with most patients dying of heart disease or stroke by their teens. It results from a mutation in the LMNA gene that produces an abnormal protein called progerin. While there is no cure, research into drugs that target progerin is providing hope for treating the symptoms and potentially extending the lives of children with this premature aging disease.
Progeria (HGPS), also known as Hutchinson-Gilford syndrome, is a progressive genetic disorder that causes children to age rapidly, beginning in their first two years.
Progeria (HGPS), also known as Hutchinson-Gilford syndrome, is a progressive genetic disorder that causes children to age rapidly, beginning in their first two years.
October is the global awareness month of Niemann-Pick Disease (NPD), a fatal inherited metabolic disorder. Hence, I am sharing a presentation I made on NPD in 2013 in this month of 2016.
Prader-Willi syndrome (PWS) is a multisystemic complex genetic disorder.
PWS is relatively common with an estimated prevalence worldwide in the range of 1 in 10,000 to 30,000 individuals
Prader-Willi syndrome is due to absence of paternally expressed imprinted genes at 15q11.2-q13.
PWS was first described by Prader et al. in 1956 and it is the first recognized disorder related to genomic imprinting in humans.
PWS affects males and females with equal frequency and affects all races and ethnicities
Gaucher disease is an inherited disorder that
affects many of the body's organs and tissues. The signs and symptoms of this
condition vary widely among affected individuals. Researchers have described
several types of Gaucher disease based on their characteristic features.
Type 1 Gaucher disease is the most common
form of this condition. Type 1 is also called non-neuronopathic Gaucher disease
because the brain and spinal cord (the central nervous system) are usually not
affected. The features of this condition range from mild to severe and may
appear anytime from childhood to adulthood. Major signs and symptoms include
enlargement of the liver and spleen (hepatosplenomegaly), a low number of red
blood cells (anemia), easy bruising caused by a decrease in blood platelets
(thrombocytopenia), lung disease, and bone abnormalities such as bone pain,
fractures, and arthritis.
Types 2 and 3 Gaucher disease are known as
neuronopathic forms of the disorder because they are characterized by problems
that affect the central nervous system. In addition to the signs and symptoms
described above, these conditions can cause abnormal eye movements, seizures,
and brain damage. Type 2 Gaucher disease usually causes life-threatening
medical problems beginning in infancy. Type 3 Gaucher disease also affects the
nervous system, but tends to progress more slowly than type 2.
The most severe type of Gaucher disease is
called the perinatal lethal form. This condition causes severe or
life-threatening complications starting before birth or in infancy. Features of
the perinatal lethal form can include extensive swelling caused by fluid
accumulation before birth (hydrops fetalis); dry, scaly skin (ichthyosis) or
other skin abnormalities; hepatosplenomegaly; distinctive facial features; and
serious neurological problems. As its name indicates, most infants with the
perinatal lethal form of Gaucher disease survive for only a few days after
birth.
Another form of Gaucher disease is known as
the cardiovascular type because it primarily affects the heart, causing the
heart valves to harden (calcify). People with the cardiovascular form of
Gaucher disease may also have eye abnormalities, bone disease, and mild
enlargement of the spleen (splenomegaly).
October is the global awareness month of Niemann-Pick Disease (NPD), a fatal inherited metabolic disorder. Hence, I am sharing a presentation I made on NPD in 2013 in this month of 2016.
Prader-Willi syndrome (PWS) is a multisystemic complex genetic disorder.
PWS is relatively common with an estimated prevalence worldwide in the range of 1 in 10,000 to 30,000 individuals
Prader-Willi syndrome is due to absence of paternally expressed imprinted genes at 15q11.2-q13.
PWS was first described by Prader et al. in 1956 and it is the first recognized disorder related to genomic imprinting in humans.
PWS affects males and females with equal frequency and affects all races and ethnicities
Gaucher disease is an inherited disorder that
affects many of the body's organs and tissues. The signs and symptoms of this
condition vary widely among affected individuals. Researchers have described
several types of Gaucher disease based on their characteristic features.
Type 1 Gaucher disease is the most common
form of this condition. Type 1 is also called non-neuronopathic Gaucher disease
because the brain and spinal cord (the central nervous system) are usually not
affected. The features of this condition range from mild to severe and may
appear anytime from childhood to adulthood. Major signs and symptoms include
enlargement of the liver and spleen (hepatosplenomegaly), a low number of red
blood cells (anemia), easy bruising caused by a decrease in blood platelets
(thrombocytopenia), lung disease, and bone abnormalities such as bone pain,
fractures, and arthritis.
Types 2 and 3 Gaucher disease are known as
neuronopathic forms of the disorder because they are characterized by problems
that affect the central nervous system. In addition to the signs and symptoms
described above, these conditions can cause abnormal eye movements, seizures,
and brain damage. Type 2 Gaucher disease usually causes life-threatening
medical problems beginning in infancy. Type 3 Gaucher disease also affects the
nervous system, but tends to progress more slowly than type 2.
The most severe type of Gaucher disease is
called the perinatal lethal form. This condition causes severe or
life-threatening complications starting before birth or in infancy. Features of
the perinatal lethal form can include extensive swelling caused by fluid
accumulation before birth (hydrops fetalis); dry, scaly skin (ichthyosis) or
other skin abnormalities; hepatosplenomegaly; distinctive facial features; and
serious neurological problems. As its name indicates, most infants with the
perinatal lethal form of Gaucher disease survive for only a few days after
birth.
Another form of Gaucher disease is known as
the cardiovascular type because it primarily affects the heart, causing the
heart valves to harden (calcify). People with the cardiovascular form of
Gaucher disease may also have eye abnormalities, bone disease, and mild
enlargement of the spleen (splenomegaly).
June Lee, MD, Director of CTSI's Early Translational Research program, presents the goals and vision for the program. Learn more about June Lee at UCSF Profiles http://profiles.ucsf.edu/ProfileDetails.aspx?From=SE&Person=5208624
Medication non-adherence is a growing concern, as it is increasingly associated with negative health outcomes and higher cost of care. Tackling the burden of non-adherence requires a collaborative, patient-centric approach that considers individual patient needs and results in intelligent interventions that combine high-tech with high-touch.
Geriatric Special Focus, Pain Management and Analgesic Prescribing for Advanc...Michelle Peck
Michelle Peck | Geriatric Nurse Practitioner | Health Care Consultant | Professional Speaker | Nursing Faculty| Legal Nurse Consultant | Mindful Geriatrics
In collaboration with Dr. Linh Nguyen, Supportive Medicine at UTHealth Medical School, we have created this slide deck for Advanced Practice Nurses.
Our mission is to simplify the pharmacologic basics of good pain prescribing. We have not provided very much detail about schedule II controlled substances due to the current limitations on Texas Nurse Practitioner prescribing in primary care.
This lecture is designed to meet our Advanced Practice Nursing audience where they are at and provide tools, knowledge and practical tips. Areas where we detect mastery with our polling questions are briefly touched upon and more time and examples are given are to areas of audience identified needs. Prescribing pain medication for Advanced Practice Nurses is dynamic, complex and ever changing
We have also included a special focus (our passion) for pain prescribing in the geriatric population. Beer’s Criteria medications, to be used with caution or avoid completely in geriatrics are mentioned throughout this presentation.
This presentation starts with the audience writing down their biggest fear about pain prescribing. We then categorize these fears, so that throughout our lecture we can give special focus and alleviate fears with practical tips, guidelines and real life examples.
Our objectives are to discuss:
1. Benefits and side effects of common analgesics
2. The impact of patient-related factors on drug selection & dose based on knowledge of patient related changes
3. Medications to avoid, use with caution, explain why
4. Management of pain based on client care goals
We hope you Learn it-Live it-Love it!
Watch the recorded webinar at http://www.mainewellness.org/cannbis_in_cancer_treatment_webinar_recording
From prevention through treatment and remission, cannabis is a powerful tool in the fight against cancer–the government’s National Cancer Institute has even updated its information to reflect the plant’s anti-cancer properties!
Join us and special guest, Molly Stewart, of the Cancer Community Center, for a discussion of the scientifically-proven and real-life benefits of cannabis in cancer treatment, and to learn more about support services and resources for cancer patients and their families.
Medicines optimisation, pop up uni, 9am, 3 september 2015NHS England
Expo is the most significant annual health and social care event in the calendar, uniting more NHS and care leaders, commissioners, clinicians, voluntary sector partners, innovators and media than any other health and care event.
Expo 15 returned to Manchester and was hosted once again by NHS England. Around 5000 people a day from health and care, the voluntary sector, local government, and industry joined together at Manchester Central Convention Centre for two packed days of speakers, workshops, exhibitions and professional development.
This year, Expo was more relevant and engaging than ever before, happening within the first 100 days of the new Government, and almost 12 months after the publication of the NHS Five Year Forward View. It was also a great opportunity to check on and learn from the progress of Greater Manchester as the area prepares to take over a £6 billion devolved health and social care budget, pledging to integrate hospital, community, primary and social care and vastly improve health and well-being.
More information is available online: www.expo.nhs.uk
Geriatric Population. Pain and Palliative Care for the Older (Geriatric) AdultMichelle Peck
Michelle Peck | Legal Nurse | Nurse Practitioner | Health Care | Geriatric | Consultant | Speaker | Educator | Researcher
During your journey through this slide deck of Geriatric Populations, Pain and Palliative Care for the Older (Geriatric) Adult, you will experience: the assessment of pain; pain management strategies; and learn more about Palliative Care services.
As a health care consumer it is important to recognize and be aware of the quality of life benefits of good pain and symptom control. This begins with a good assessment of the factors contributing to the pain. Pain is a multifaceted experience. There are many barriers to achieving effective pain control in the elderly (geriatric population). Health care providers need to be aware of personal biases surrounding pain for proper pain management. There are also many health care provider misconceptions regarding Palliative Care especially in the geriatric population.
To enrich your geriatric understanding, at the end of this slide deck we discuss Palliative Care: the relief you need when you are experiencing serious medical illness.
Learn it-Live it-Love it-Your path for a more informed life!
Michelle Peck | Legal Nurse | Nurse Practitioner | Health Care | Geriatric | Consultant | Speaker | Educator | Researcher
Screening for any disorder in individuals is a strategy used for identifying a disease before the onset of signs or symptoms, thus enabling earlier detection and management with the aim to reduce morbidity and mortality.
Title: Sense of Smell
Presenter: Dr. Faiza, Assistant Professor of Physiology
Qualifications:
MBBS (Best Graduate, AIMC Lahore)
FCPS Physiology
ICMT, CHPE, DHPE (STMU)
MPH (GC University, Faisalabad)
MBA (Virtual University of Pakistan)
Learning Objectives:
Describe the primary categories of smells and the concept of odor blindness.
Explain the structure and location of the olfactory membrane and mucosa, including the types and roles of cells involved in olfaction.
Describe the pathway and mechanisms of olfactory signal transmission from the olfactory receptors to the brain.
Illustrate the biochemical cascade triggered by odorant binding to olfactory receptors, including the role of G-proteins and second messengers in generating an action potential.
Identify different types of olfactory disorders such as anosmia, hyposmia, hyperosmia, and dysosmia, including their potential causes.
Key Topics:
Olfactory Genes:
3% of the human genome accounts for olfactory genes.
400 genes for odorant receptors.
Olfactory Membrane:
Located in the superior part of the nasal cavity.
Medially: Folds downward along the superior septum.
Laterally: Folds over the superior turbinate and upper surface of the middle turbinate.
Total surface area: 5-10 square centimeters.
Olfactory Mucosa:
Olfactory Cells: Bipolar nerve cells derived from the CNS (100 million), with 4-25 olfactory cilia per cell.
Sustentacular Cells: Produce mucus and maintain ionic and molecular environment.
Basal Cells: Replace worn-out olfactory cells with an average lifespan of 1-2 months.
Bowman’s Gland: Secretes mucus.
Stimulation of Olfactory Cells:
Odorant dissolves in mucus and attaches to receptors on olfactory cilia.
Involves a cascade effect through G-proteins and second messengers, leading to depolarization and action potential generation in the olfactory nerve.
Quality of a Good Odorant:
Small (3-20 Carbon atoms), volatile, water-soluble, and lipid-soluble.
Facilitated by odorant-binding proteins in mucus.
Membrane Potential and Action Potential:
Resting membrane potential: -55mV.
Action potential frequency in the olfactory nerve increases with odorant strength.
Adaptation Towards the Sense of Smell:
Rapid adaptation within the first second, with further slow adaptation.
Psychological adaptation greater than receptor adaptation, involving feedback inhibition from the central nervous system.
Primary Sensations of Smell:
Camphoraceous, Musky, Floral, Pepperminty, Ethereal, Pungent, Putrid.
Odor Detection Threshold:
Examples: Hydrogen sulfide (0.0005 ppm), Methyl-mercaptan (0.002 ppm).
Some toxic substances are odorless at lethal concentrations.
Characteristics of Smell:
Odor blindness for single substances due to lack of appropriate receptor protein.
Behavioral and emotional influences of smell.
Transmission of Olfactory Signals:
From olfactory cells to glomeruli in the olfactory bulb, involving lateral inhibition.
Primitive, less old, and new olfactory systems with different path
Prix Galien International 2024 Forum ProgramLevi Shapiro
June 20, 2024, Prix Galien International and Jerusalem Ethics Forum in ROME. Detailed agenda including panels:
- ADVANCES IN CARDIOLOGY: A NEW PARADIGM IS COMING
- WOMEN’S HEALTH: FERTILITY PRESERVATION
- WHAT’S NEW IN THE TREATMENT OF INFECTIOUS,
ONCOLOGICAL AND INFLAMMATORY SKIN DISEASES?
- ARTIFICIAL INTELLIGENCE AND ETHICS
- GENE THERAPY
- BEYOND BORDERS: GLOBAL INITIATIVES FOR DEMOCRATIZING LIFE SCIENCE TECHNOLOGIES AND PROMOTING ACCESS TO HEALTHCARE
- ETHICAL CHALLENGES IN LIFE SCIENCES
- Prix Galien International Awards Ceremony
These simplified slides by Dr. Sidra Arshad present an overview of the non-respiratory functions of the respiratory tract.
Learning objectives:
1. Enlist the non-respiratory functions of the respiratory tract
2. Briefly explain how these functions are carried out
3. Discuss the significance of dead space
4. Differentiate between minute ventilation and alveolar ventilation
5. Describe the cough and sneeze reflexes
Study Resources:
1. Chapter 39, Guyton and Hall Textbook of Medical Physiology, 14th edition
2. Chapter 34, Ganong’s Review of Medical Physiology, 26th edition
3. Chapter 17, Human Physiology by Lauralee Sherwood, 9th edition
4. Non-respiratory functions of the lungs https://academic.oup.com/bjaed/article/13/3/98/278874
Ozempic: Preoperative Management of Patients on GLP-1 Receptor Agonists Saeid Safari
Preoperative Management of Patients on GLP-1 Receptor Agonists like Ozempic and Semiglutide
ASA GUIDELINE
NYSORA Guideline
2 Case Reports of Gastric Ultrasound
micro teaching on communication m.sc nursing.pdfAnurag Sharma
Microteaching is a unique model of practice teaching. It is a viable instrument for the. desired change in the teaching behavior or the behavior potential which, in specified types of real. classroom situations, tends to facilitate the achievement of specified types of objectives.
Anti ulcer drugs and their Advance pharmacology ||
Anti-ulcer drugs are medications used to prevent and treat ulcers in the stomach and upper part of the small intestine (duodenal ulcers). These ulcers are often caused by an imbalance between stomach acid and the mucosal lining, which protects the stomach lining.
||Scope: Overview of various classes of anti-ulcer drugs, their mechanisms of action, indications, side effects, and clinical considerations.
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MANAGEMENT OF ATRIOVENTRICULAR CONDUCTION BLOCK.pdfJim Jacob Roy
Cardiac conduction defects can occur due to various causes.
Atrioventricular conduction blocks ( AV blocks ) are classified into 3 types.
This document describes the acute management of AV block.
The prostate is an exocrine gland of the male mammalian reproductive system
It is a walnut-sized gland that forms part of the male reproductive system and is located in front of the rectum and just below the urinary bladder
Function is to store and secrete a clear, slightly alkaline fluid that constitutes 10-30% of the volume of the seminal fluid that along with the spermatozoa, constitutes semen
A healthy human prostate measures (4cm-vertical, by 3cm-horizontal, 2cm ant-post ).
It surrounds the urethra just below the urinary bladder. It has anterior, median, posterior and two lateral lobes
It’s work is regulated by androgens which are responsible for male sex characteristics
Generalised disease of the prostate due to hormonal derangement which leads to non malignant enlargement of the gland (increase in the number of epithelial cells and stromal tissue)to cause compression of the urethra leading to symptoms (LUTS
ARTIFICIAL INTELLIGENCE IN HEALTHCARE.pdfAnujkumaranit
Artificial intelligence (AI) refers to the simulation of human intelligence processes by machines, especially computer systems. It encompasses tasks such as learning, reasoning, problem-solving, perception, and language understanding. AI technologies are revolutionizing various fields, from healthcare to finance, by enabling machines to perform tasks that typically require human intelligence.
6. If you did, you were going to feel that you are
fortunate
7. And you will discover the true identity of the
childhood ripper…..
8.
9. What Is Progeria?
• Progeria is an extremely rare, fatal genetic condition that
affects children and gives them an appearance of
accelerated aging.
• The word Progeria comes from the Greek rogeros meaning
'prematurely old'.
• It was first described in an academic journal by Dr. Jonathan
Hutchinson in 1886, and Dr. Hastings Gilford in 1897 - both
in England.
• The condition was later named Hutchinson-Gilford Progeria
Syndrome (HGPS).
10. What Is Progeria?
• It is currently hypothesized to result from a gene
mutation arising around the time of conception or shortly
thereafter.
• Although the term progeria applies to all diseases
characterized by premature aging symptoms, it is often
applied specifically in reference to Hutchinson-Gilford
Progeria Syndrome.
• Progeria disease provides medical researchers a window to
better understand how the body works and to explain some
of the mysteries of the aging process.
11. Prevalence
• Progeria is listed as a "rare disease" by the Office of Rare
Diseases (ORD) of the National Institutes of Health (NIH).
• HGPS prevalence is reported to be 1 in 8 million births.
• The true prevalence, however, has been suggested to be
closer to 1 in 4 million births because many cases likely go
undiagnosed or are misdiagnosed.
12. Prevalence
• Progeria affects all races with about 97% of the children
affected being Caucasian.
• Also, it affects both sexes almost equally with slight male
predilection; the male-to-female ratio is 1.5:1.
• In the past 15 years, children with Progeria have been
reported all over the world.
14. Fertility
• In general, people with progeria have such severe failure to thrive
(poor growth from the time of childhood) that it prevents fertility.
• The absence of complete sexual maturation has been considered
characteristic of the syndrome.
• Yet a case described and published at 1989 by endocrinologists in
Spain reported that a 32-year-old woman with progeria had
delivered a child at age 23 which means that she must have been
sexually mature to deliver the child.
• However sexual maturity is rare in these patients.
15. Prognosis
• As there is no known cure, the average life expectancy for a
patient with HGPS is 13 years, with an age range of 7-27 years.
• At least 90% of patients die from complications of
atherosclerosis, such as heart attack or stroke.
• Mental development is not adversely affected; in
fact, intelligence tends to be above average.
16. Prognosis
• With respect to the features of aging that progeria appears to
manifest, the development of symptoms is comparable to
aging at a rate eight to ten times faster than normal.
• With respect to features of aging that progeria does not
exhibit, patients show no neurodegeneration or cancer
predisposition.
• They also do not develop the so-called "wear and tear"
conditions commonly associated with aging, such as cataracts
(caused by UV exposure) and osteoarthritis (caused by
mechanical wear).
17. Symptoms
• Although they are born looking healthy, children with Progeria
begin to display many characteristics of accelerated aging at
around 18-24 months of age.
• The children have a remarkably similar appearance, despite
differing ethnic backgrounds.
• Most of the following features are manifested after the age of
three years in children with Hutchinson-Gilford progeria
syndrome:
18. Symptoms
• Baldness
• Pinched nose
• Small, wrinkled face
• Head large for the size of the face
• Loss of eyebrows and eyelashes
• Prominent scalp veins
• Delayed tooth formation
• Loss of muscles and body fat
• Bulging eyes
• Wrinkled, scaly, dry skin
• High pitched voice
• Short stature
• Stiffness in joints
• Progressive cardiovascular diseases
• Progressive atherosclerosis
19. Fig: Dutch Patient at the age of 1 year, 1 year, 2 years, 6 years, 7 years, 8 years, 10
years, and 12 years.
20. Types of Progeria
1.Classical HGPS:
classically affected patients strongly resemble one
another
2.Non classical -Atypcal- HGPS:
A group of patients with progeria that show a
definite overlap with patients with other syndromes
“e.g. mandibulo-acral dysostosis (MAD)”
22. Genetic causes
• Mutations in the LMNA gene cause Hutchinson-Gilford
progeria syndrome.
• LMNA gene is located on chromosome 1q22 and is composed
of 12 exons.
• Only four causative heterozygous mutations for HGPS in
LMNA are recognized.
23. Genetic causes
• Fig 1.4: Genomic location of LMNA gene on chromosome 1q22 shown in red
24. Genetic causes
Classic HGPS
• c.1824C>T transition in exon 11 results in a silent Gly-to-Gly change
at codon 608 (p.Gly608Gly).
• This silent change results in increased usage of an internal cryptic
spice site resulting in an in-frame deletion of 150 nucleotides and
50 amino acids from the lamin A protein.
Atypical HGPS
• c.1822G>A (p.Gly608Ser), c.1821G>A (p.Val607Val), or c.1968+1G>A
25. Mode of inheritance
• HGPS is not usually passed down in families.
• The gene change is almost always a chance occurrence that is
extremely rare.
• However, HGPS is considered a “sporadic autosomal
dominant” mutation.
27. Molecular Basis of Disease
• Lamin A is an inner nuclear membrane protein with both
structural and cell signaling effects.
• The single C to T transition at nucleotide 1824 of LMNA does
not change the translated amino acid (Gly608Gly), but
activates a cryptic splice site, resulting in the deletion of 150
base pairs in the 3’ portion of exon 11.
• Translation followed by post-translational processing of this
altered mRNA produces a shortened abnormal prelamin A
protein with a 50 amino-acid deletion, henceforth called
“progerin”.
28. Molecular Basis of Disease
• A key to disease in HGPS is the presumably persistent
farnesylation of progerin, which renders it permanently
intercalated into the inner nuclear membrane where it can
accumulate and exert progressively more damage to cells as
they age.
• The inability to release progerin from the nuclear membrane
results in structural stress on the nucleus.
• It is hypothesized that this permanently farnesylated mutant
form of prelamin A (progerin) leads to the progressive defects
in nuclear architecture that are seen in HGPS.
31. Diagnosis
• The diagnosis is based on recognition of common clinical
features and Molecular genetic testing of LMNA, the only
gene known to be associated with HGPS.
32. Molecular genetic testing
Molecular genetic testing:
• Targeted mutation analysis can be used to identify the
pathologic variant c.1824C>T (p.Gly608Gly), the common
recurrent de novo LMNA mutation in exon 11 that defines
classic HGPS.
33. Molecular genetic testing
• Sequence analysis of the entire coding region and associated
splice junctions identifies:
• c.1824C>T, the common mutation that defines classic
HGPS
• c.1822G>A (p.Gly608Ser), c.1821G>A (p.Val607Val), and
c.1968+1G>A, the other three mutations that define
atypical HGPS
• Other sequence variants in the gene that may be
associated with other progeroid syndromes.
35. Molecular genetic testing
• Note: Urinary hyaluronic acid is not a valid test for the
diagnosis of HGPS. Although urinary hyaluronic acid has been
reported to be increased in children with HGPS, the
measurement is now regarded as unreliable.
36. Prenatal diagnosis and preimplantation genetic
diagnosis (PGD)
• Parental diagnosis and PGD for at-risk pregnancies require
prior identification of the disease-causing mutation in the
family.
• Of note, recurrence within a family is rare given that most
mutations are de novo and germline mosaicism is rare.
37. Treatments
• There's no cure for progeria.
• Regular monitoring for cardiovascular disease may help with
managing the child's condition.
• Some children undergo coronary artery bypass surgery or
dilation of cardiac arteries (angioplasty) to slow the
progression of cardiovascular disease.
38. Treatments
• Certain therapies may ease or delay some of the signs and
symptoms. They include:
• Low-dose aspirin. A daily dose may help prevent heart
attacks and stroke.
• Other medications. Depending on the child's
condition, doctor may prescribe other
medications, anticoagulants to help prevent blood clots.
The use of growth hormone may help increase height
and weight.
39. Treatments
• Physical and occupational therapy. These may help with joint
stiffness and hip problems and may allow the child to remain
active.
• Extraction of primary teeth. Extraction may help prevent
problems associated with the delayed loss of baby teeth.
40. Lifestyle and home remedies
• Some steps you can take at home that may help progeria child
include:
• Make sure the child stays well hydrated. Dehydration can be
more serious in children with progeria. Be sure the child gets
enough to drink, especially during an illness or in hot weather.
• Provide frequent, small meals. Because nutrition and growth
can be an issue for children with progeria, giving the child
smaller meals more often may help to increase his or her
caloric intake.
41. Lifestyle and home remedies
• Provide opportunities for regular physical activity. Check
with the child's doctor to learn which activities are right for
the child.
• Get cushioned shoes or shoe inserts for the child. The loss of
body fat in the feet can cause discomfort.
42. Lifestyle and home remedies
• Make sure the child is up to date on childhood
immunizations. A child with progeria isn't at increased risk of
infection, but like all children is at risk if exposed to infectious
diseases.
• Provide learning opportunities. Progeria won't affect the
child's intellect, so he or she can attend school at an age-
appropriate level.
43. Therapies Under Investigation
FTIs - a potential drug treatment for children with Progeria:
• Drugs known as farnesyltransferase inhibitors (FTIs), which
were developed for treating cancer, have shown promise in
laboratory studies in correcting the cell defects that cause
progeria.
• FTIs are currently being studied in human clinical trials for
treatment of progeria.
44. Therapies Under Investigation
Progeria research foundation (PRF)-funded study Identifies
Rapamycin as Possible Treatment for Progeria:
• Researchers at the National Institutes of Health and
Massachusetts General Hospital in Boston, MA published a
new study in Science, Translational Medicine that may lead to
a new drug treatment for children with Progeria.
• Rapamycin is an FDA approved drug that has previously been
shown to extend the lives of non-progeria mouse models.
45. Therapies Under Investigation
• This new study demonstrates that rapamycin decreases the
amount of the disease-causing protein progerin by 50%,
improves the abnormal nuclear shape, and extends the
lifespan of progeria cells.
• This study provides the first evidence that rapamycin may be
able to decrease progerin's damaging effects in children with
progeria.
46. Fig : Progeria cells treated with rapamycin become normalized
47. Progeria Research Foundation
• The Progeria Research Foundation (PRF) was established in
the United States in 1999 by the parents of a child with
Progeria, Drs. Leslie Gordon and Scott Berns, and many
dedicated friends and family who saw the need for a medical
resource for the doctors, patients, and families of those with
Progeria and for funding of Progeria research.
48. Progeria Research Foundation
• Since that time, PRF has become a driving force for promoting
advances in the field, including the 2003 historic discovery of
the Progeria gene, and has developed a comprehensive
network of to aid those affected by Progeria and those
researchers who want to conduct Progeria research.
• PRF is the only non-profit organization worldwide solely
dedicated to finding treatments and the cure for Progeria.
49. PRF Programs and Services
• International Patient Registry
• Diagnostic Testing Program
• Medical & Research Database
• Cell & Tissue Bank
• Progeria Family Network
• Research funding
• Scientific workshops
• Public awareness
• Volunteers & fundraising