This presentation covers topics such as history, prevalence, genetics, diagnosis and treatment for Angelman Syndrome (AS). With more emphasis on the genetics, this presentation will explain how maternal 15q deletion and/or paternal disomy leads to the "puppet-like" features which are exclusive for AS. Hope you will get enough information from the slides about AS. (This is a presentation that was done with the help of my classmate Sindhu J. R., initially for her class presentation.)
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
This presentation covers topics such as history, prevalence, genetics, diagnosis and treatment for Angelman Syndrome (AS). With more emphasis on the genetics, this presentation will explain how maternal 15q deletion and/or paternal disomy leads to the "puppet-like" features which are exclusive for AS. Hope you will get enough information from the slides about AS. (This is a presentation that was done with the help of my classmate Sindhu J. R., initially for her class presentation.)
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
Fragile X syndrome causes mild to severe intellectual disability. It affects both males and females, but females usually have milder symptoms.
Symptoms include delays in talking, anxiety and hyperactive behaviour. Some people have seizures. Physical features might include large ears, a long face, a prominent jaw and forehead and flat feet.
Therapy can be used to treat learning disabilities. Medication may be used to treat anxiety and mood disorders.
DiGeorge Syndrome (DGS) is a primary immunodeficiency disease associated with susceptibility to infections due to poor T cell production and function.
While DGS is a lifelong condition, it mostly affects infants and children. Depending on the severity of the syndrome, recurrent infections tend to decrease in late childhood and adulthood. Still, approximately one-third of affected adults will have mild recurrent infections. Children with DGS differ in the organs and tissues affected, as well as in the severity of the disease.
Fragile X syndrome causes mild to severe intellectual disability. It affects both males and females, but females usually have milder symptoms.
Symptoms include delays in talking, anxiety and hyperactive behaviour. Some people have seizures. Physical features might include large ears, a long face, a prominent jaw and forehead and flat feet.
Therapy can be used to treat learning disabilities. Medication may be used to treat anxiety and mood disorders.
DiGeorge Syndrome (DGS) is a primary immunodeficiency disease associated with susceptibility to infections due to poor T cell production and function.
While DGS is a lifelong condition, it mostly affects infants and children. Depending on the severity of the syndrome, recurrent infections tend to decrease in late childhood and adulthood. Still, approximately one-third of affected adults will have mild recurrent infections. Children with DGS differ in the organs and tissues affected, as well as in the severity of the disease.
Explore natural remedies for syphilis treatment in Singapore. Discover alternative therapies, herbal remedies, and lifestyle changes that may complement conventional treatments. Learn about holistic approaches to managing syphilis symptoms and supporting overall health.
Lung Cancer: Artificial Intelligence, Synergetics, Complex System Analysis, S...Oleg Kshivets
RESULTS: Overall life span (LS) was 2252.1±1742.5 days and cumulative 5-year survival (5YS) reached 73.2%, 10 years – 64.8%, 20 years – 42.5%. 513 LCP lived more than 5 years (LS=3124.6±1525.6 days), 148 LCP – more than 10 years (LS=5054.4±1504.1 days).199 LCP died because of LC (LS=562.7±374.5 days). 5YS of LCP after bi/lobectomies was significantly superior in comparison with LCP after pneumonectomies (78.1% vs.63.7%, P=0.00001 by log-rank test). AT significantly improved 5YS (66.3% vs. 34.8%) (P=0.00000 by log-rank test) only for LCP with N1-2. Cox modeling displayed that 5YS of LCP significantly depended on: phase transition (PT) early-invasive LC in terms of synergetics, PT N0—N12, cell ratio factors (ratio between cancer cells- CC and blood cells subpopulations), G1-3, histology, glucose, AT, blood cell circuit, prothrombin index, heparin tolerance, recalcification time (P=0.000-0.038). Neural networks, genetic algorithm selection and bootstrap simulation revealed relationships between 5YS and PT early-invasive LC (rank=1), PT N0—N12 (rank=2), thrombocytes/CC (3), erythrocytes/CC (4), eosinophils/CC (5), healthy cells/CC (6), lymphocytes/CC (7), segmented neutrophils/CC (8), stick neutrophils/CC (9), monocytes/CC (10); leucocytes/CC (11). Correct prediction of 5YS was 100% by neural networks computing (area under ROC curve=1.0; error=0.0).
CONCLUSIONS: 5YS of LCP after radical procedures significantly depended on: 1) PT early-invasive cancer; 2) PT N0--N12; 3) cell ratio factors; 4) blood cell circuit; 5) biochemical factors; 6) hemostasis system; 7) AT; 8) LC characteristics; 9) LC cell dynamics; 10) surgery type: lobectomy/pneumonectomy; 11) anthropometric data. Optimal diagnosis and treatment strategies for LC are: 1) screening and early detection of LC; 2) availability of experienced thoracic surgeons because of complexity of radical procedures; 3) aggressive en block surgery and adequate lymph node dissection for completeness; 4) precise prediction; 5) adjuvant chemoimmunoradiotherapy for LCP with unfavorable prognosis.
NVBDCP.pptx Nation vector borne disease control programSapna Thakur
NVBDCP was launched in 2003-2004 . Vector-Borne Disease: Disease that results from an infection transmitted to humans and other animals by blood-feeding arthropods, such as mosquitoes, ticks, and fleas. Examples of vector-borne diseases include Dengue fever, West Nile Virus, Lyme disease, and malaria.
Tom Selleck Health: A Comprehensive Look at the Iconic Actor’s Wellness Journeygreendigital
Tom Selleck, an enduring figure in Hollywood. has captivated audiences for decades with his rugged charm, iconic moustache. and memorable roles in television and film. From his breakout role as Thomas Magnum in Magnum P.I. to his current portrayal of Frank Reagan in Blue Bloods. Selleck's career has spanned over 50 years. But beyond his professional achievements. fans have often been curious about Tom Selleck Health. especially as he has aged in the public eye.
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Introduction
Many have been interested in Tom Selleck health. not only because of his enduring presence on screen but also because of the challenges. and lifestyle choices he has faced and made over the years. This article delves into the various aspects of Tom Selleck health. exploring his fitness regimen, diet, mental health. and the challenges he has encountered as he ages. We'll look at how he maintains his well-being. the health issues he has faced, and his approach to ageing .
Early Life and Career
Childhood and Athletic Beginnings
Tom Selleck was born on January 29, 1945, in Detroit, Michigan, and grew up in Sherman Oaks, California. From an early age, he was involved in sports, particularly basketball. which played a significant role in his physical development. His athletic pursuits continued into college. where he attended the University of Southern California (USC) on a basketball scholarship. This early involvement in sports laid a strong foundation for his physical health and disciplined lifestyle.
Transition to Acting
Selleck's transition from an athlete to an actor came with its physical demands. His first significant role in "Magnum P.I." required him to perform various stunts and maintain a fit appearance. This role, which he played from 1980 to 1988. necessitated a rigorous fitness routine to meet the show's demands. setting the stage for his long-term commitment to health and wellness.
Fitness Regimen
Workout Routine
Tom Selleck health and fitness regimen has evolved. adapting to his changing roles and age. During his "Magnum, P.I." days. Selleck's workouts were intense and focused on building and maintaining muscle mass. His routine included weightlifting, cardiovascular exercises. and specific training for the stunts he performed on the show.
Selleck adjusted his fitness routine as he aged to suit his body's needs. Today, his workouts focus on maintaining flexibility, strength, and cardiovascular health. He incorporates low-impact exercises such as swimming, walking, and light weightlifting. This balanced approach helps him stay fit without putting undue strain on his joints and muscles.
Importance of Flexibility and Mobility
In recent years, Selleck has emphasized the importance of flexibility and mobility in his fitness regimen. Understanding the natural decline in muscle mass and joint flexibility with age. he includes stretching and yoga in his routine. These practices help prevent injuries, improve posture, and maintain mobilit
Pulmonary Thromboembolism - etilogy, types, medical- Surgical and nursing man...VarunMahajani
Disruption of blood supply to lung alveoli due to blockage of one or more pulmonary blood vessels is called as Pulmonary thromboembolism. In this presentation we will discuss its causes, types and its management in depth.
New Drug Discovery and Development .....NEHA GUPTA
The "New Drug Discovery and Development" process involves the identification, design, testing, and manufacturing of novel pharmaceutical compounds with the aim of introducing new and improved treatments for various medical conditions. This comprehensive endeavor encompasses various stages, including target identification, preclinical studies, clinical trials, regulatory approval, and post-market surveillance. It involves multidisciplinary collaboration among scientists, researchers, clinicians, regulatory experts, and pharmaceutical companies to bring innovative therapies to market and address unmet medical needs.
Title: Sense of Taste
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 structure and function of taste buds.
Describe the relationship between the taste threshold and taste index of common substances.
Explain the chemical basis and signal transduction of taste perception for each type of primary taste sensation.
Recognize different abnormalities of taste perception and their causes.
Key Topics:
Significance of Taste Sensation:
Differentiation between pleasant and harmful food
Influence on behavior
Selection of food based on metabolic needs
Receptors of Taste:
Taste buds on the tongue
Influence of sense of smell, texture of food, and pain stimulation (e.g., by pepper)
Primary and Secondary Taste Sensations:
Primary taste sensations: Sweet, Sour, Salty, Bitter, Umami
Chemical basis and signal transduction mechanisms for each taste
Taste Threshold and Index:
Taste threshold values for Sweet (sucrose), Salty (NaCl), Sour (HCl), and Bitter (Quinine)
Taste index relationship: Inversely proportional to taste threshold
Taste Blindness:
Inability to taste certain substances, particularly thiourea compounds
Example: Phenylthiocarbamide
Structure and Function of Taste Buds:
Composition: Epithelial cells, Sustentacular/Supporting cells, Taste cells, Basal cells
Features: Taste pores, Taste hairs/microvilli, and Taste nerve fibers
Location of Taste Buds:
Found in papillae of the tongue (Fungiform, Circumvallate, Foliate)
Also present on the palate, tonsillar pillars, epiglottis, and proximal esophagus
Mechanism of Taste Stimulation:
Interaction of taste substances with receptors on microvilli
Signal transduction pathways for Umami, Sweet, Bitter, Sour, and Salty tastes
Taste Sensitivity and Adaptation:
Decrease in sensitivity with age
Rapid adaptation of taste sensation
Role of Saliva in Taste:
Dissolution of tastants to reach receptors
Washing away the stimulus
Taste Preferences and Aversions:
Mechanisms behind taste preference and aversion
Influence of receptors and neural pathways
Impact of Sensory Nerve Damage:
Degeneration of taste buds if the sensory nerve fiber is cut
Abnormalities of Taste Detection:
Conditions: Ageusia, Hypogeusia, Dysgeusia (parageusia)
Causes: Nerve damage, neurological disorders, infections, poor oral hygiene, adverse drug effects, deficiencies, aging, tobacco use, altered neurotransmitter levels
Neurotransmitters and Taste Threshold:
Effects of serotonin (5-HT) and norepinephrine (NE) on taste sensitivity
Supertasters:
25% of the population with heightened sensitivity to taste, especially bitterness
Increased number of fungiform papillae
Couples presenting to the infertility clinic- Do they really have infertility...Sujoy Dasgupta
Dr Sujoy Dasgupta presented the study on "Couples presenting to the infertility clinic- Do they really have infertility? – The unexplored stories of non-consummation" in the 13th Congress of the Asia Pacific Initiative on Reproduction (ASPIRE 2024) at Manila on 24 May, 2024.
New Directions in Targeted Therapeutic Approaches for Older Adults With Mantl...i3 Health
i3 Health is pleased to make the speaker slides from this activity available for use as a non-accredited self-study or teaching resource.
This slide deck presented by Dr. Kami Maddocks, Professor-Clinical in the Division of Hematology and
Associate Division Director for Ambulatory Operations
The Ohio State University Comprehensive Cancer Center, will provide insight into new directions in targeted therapeutic approaches for older adults with mantle cell lymphoma.
STATEMENT OF NEED
Mantle cell lymphoma (MCL) is a rare, aggressive B-cell non-Hodgkin lymphoma (NHL) accounting for 5% to 7% of all lymphomas. Its prognosis ranges from indolent disease that does not require treatment for years to very aggressive disease, which is associated with poor survival (Silkenstedt et al, 2021). Typically, MCL is diagnosed at advanced stage and in older patients who cannot tolerate intensive therapy (NCCN, 2022). Although recent advances have slightly increased remission rates, recurrence and relapse remain very common, leading to a median overall survival between 3 and 6 years (LLS, 2021). Though there are several effective options, progress is still needed towards establishing an accepted frontline approach for MCL (Castellino et al, 2022). Treatment selection and management of MCL are complicated by the heterogeneity of prognosis, advanced age and comorbidities of patients, and lack of an established standard approach for treatment, making it vital that clinicians be familiar with the latest research and advances in this area. In this activity chaired by Michael Wang, MD, Professor in the Department of Lymphoma & Myeloma at MD Anderson Cancer Center, expert faculty will discuss prognostic factors informing treatment, the promising results of recent trials in new therapeutic approaches, and the implications of treatment resistance in therapeutic selection for MCL.
Target Audience
Hematology/oncology fellows, attending faculty, and other health care professionals involved in the treatment of patients with mantle cell lymphoma (MCL).
Learning Objectives
1.) Identify clinical and biological prognostic factors that can guide treatment decision making for older adults with MCL
2.) Evaluate emerging data on targeted therapeutic approaches for treatment-naive and relapsed/refractory MCL and their applicability to older adults
3.) Assess mechanisms of resistance to targeted therapies for MCL and their implications for treatment selection
Acute scrotum is a general term referring to an emergency condition affecting the contents or the wall of the scrotum.
There are a number of conditions that present acutely, predominantly with pain and/or swelling
A careful and detailed history and examination, and in some cases, investigations allow differentiation between these diagnoses. A prompt diagnosis is essential as the patient may require urgent surgical intervention
Testicular torsion refers to twisting of the spermatic cord, causing ischaemia of the testicle.
Testicular torsion results from inadequate fixation of the testis to the tunica vaginalis producing ischemia from reduced arterial inflow and venous outflow obstruction.
The prevalence of testicular torsion in adult patients hospitalized with acute scrotal pain is approximately 25 to 50 percent
Flu Vaccine Alert in Bangalore Karnatakaaddon Scans
As flu season approaches, health officials in Bangalore, Karnataka, are urging residents to get their flu vaccinations. The seasonal flu, while common, can lead to severe health complications, particularly for vulnerable populations such as young children, the elderly, and those with underlying health conditions.
Dr. Vidisha Kumari, a leading epidemiologist in Bangalore, emphasizes the importance of getting vaccinated. "The flu vaccine is our best defense against the influenza virus. It not only protects individuals but also helps prevent the spread of the virus in our communities," he says.
This year, the flu season is expected to coincide with a potential increase in other respiratory illnesses. The Karnataka Health Department has launched an awareness campaign highlighting the significance of flu vaccinations. They have set up multiple vaccination centers across Bangalore, making it convenient for residents to receive their shots.
To encourage widespread vaccination, the government is also collaborating with local schools, workplaces, and community centers to facilitate vaccination drives. Special attention is being given to ensuring that the vaccine is accessible to all, including marginalized communities who may have limited access to healthcare.
Residents are reminded that the flu vaccine is safe and effective. Common side effects are mild and may include soreness at the injection site, mild fever, or muscle aches. These side effects are generally short-lived and far less severe than the flu itself.
Healthcare providers are also stressing the importance of continuing COVID-19 precautions. Wearing masks, practicing good hand hygiene, and maintaining social distancing are still crucial, especially in crowded places.
Protect yourself and your loved ones by getting vaccinated. Together, we can help keep Bangalore healthy and safe this flu season. For more information on vaccination centers and schedules, residents can visit the Karnataka Health Department’s official website or follow their social media pages.
Stay informed, stay safe, and get your flu shot today!
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.
2. What is it?
Angelman Syndrome is a rare genetic disorder the
affects 1 out of 15,000 people.
This disorder affects the nervous system.
It is resulting from a defect in the maternally inherited
copy of chromosomes 15q11.2-13
Meaning that chromosome 15 is missing, and there is a
break in part of chomosome 11-13.
3.
4. Genetics behind Angelman
Syndrome
There are different levels of Angelman Syndrome but
no level is hereditary based.
Most cases of Angelman Syndrome are not inherited.
It is usually caused by a deletion in the maternal
chromosome 15 or by paternal unipaternal disomy
(UPD).
UPD is when there is 2 copies of the fathers
chromosome 15 and the mothers copy is missing.
In some cases the fathers copies are silenced so you
cannot tell at birth that the child has angelman
syndrome (AS)
5. Other Causes
Angelman Syndrome can also be caused by a chromosomal
rearrangement called a translocation, or by a mutation or other defect
in the region of DNA that controls activation of the UBE3A gene.
In these genetic changes it can inactivate the UBE3A or other genes on
the maternal side.
Imprinting: Genomic imprinting refers to a process whereby the
maternal copy of a gene can be marked or “imprinted” differently than
the paternal copy of the same gene
6. Deletion Positive
Class I: Class I deletion is the smaller deletion. Kids
with a Class I deletion often have earlier
milestones, stronger skills, milder epilepsy.
Class II: A larger deletion and stronger side effects.
7. Characterization
This genetic disorder is shown
They tend to have
with development delays, severe
hypopigmented skin meaning
speech impairment, disorders of
they have light hair and light eyes
balance or movement, and
compared to the rest of the
frequent laughter.
family; this is only seen in
The angels have a happy
deletion cases.
demeanor all the time and they They may have feeding problems
are easily excited.
during infancy.
Seizures are very common with
They may have excessive chewing
this disorder usually at less than
or mouthing disorders.
three years of age. The severity of
Attraction to or fascination with
seizures usually decreases with
water; fascination with crinkly
age, but it does last through
items such as papers or plastics.
adulthood.
8. History of Angelman Syndrome
Angelman Syndrome was diagnosed by Dr. Harry
Angelman in 1965.
Before the diagnosis they called the disorder “Happy
Puppet Disorder” because of the way the person
moved their arms and hands, and the way they smiled.
It looked as if the persons arms were being held up
with puppet strings.
Instead of Angels they were called “Puppet Children”.
9. Comparison
Development of a 5 month old without the trait: By the end
of this month, your 5-month-old baby will probably be able
to sit up with some support, and be able to pass toys from
one hand to another. Depending on how long your friends
and family visit you, your baby might start displaying a
wariness of strangers
Development of a 5 month old with angelman syndrome:
Just happy all the time, not sitting up on their own, not
passing toys from one hand to another. Not recognizing
faces other than every single day familiar faces.
The life expectancy for someone with Angelman Syndrome
is the same as someone without AS.
10. Research
There are two researchers looking
for a cure for AS.
Edwin Weeber and Ben Philpot.
They’ve found a cure for AS in
animals, they are looking for a
cure in humans.
They say they will need 20 million
dollars and five years to find a
cure for Angelman Syndrome.
"If ever I thought an eventual cure
for Angelman Syndrome did not
exist, I would stop doing AS
research tomorrow..... Let's make
a deal. I promise to spend my life
searching for a cure for AS if you
promise not to let anyone's
comments dash your hopes that
your child will some day have a
voice." -- Dr. Ed Weeber, Principal
Investigator, Angelman Clinical
Trial
11. Foundations & Organizations
FAST: Foundation for Angelman Syndrome
Therapeutics. www.CUREAngelman.org . FAST
mission statement, “ There are many diseases &
disorders that will not be cured in our lifetime. With
your help AS will NOT be one of them.”
Every two years FAST has a Gala for families with
angels to come and talk to one another and just have a
good time. They hear about eachothers experiences.
ASF: Angelman Syndrome Foundation.
www.angelman.org . ASF mission statement, “Give
them a reason to smile.”
12. Fighting Angels Foundation
https://www.facebook.com/pages/Fighting-Angels-
Foundation/429064183878133
This is a foundation for Joey Moretti who was
diagnosed with angelmans syndrome.
They are coming together to raise money towards the
cure for AS.
13. Joey’s Story
Joey was born at 38 weeks gestation with no complications. He was the absolute cutest 4lb 13oz "old
man baby" ever! That Sunday night the light of OUR life was switched on, but little did we know he
had a switch turned off and a tiny piece of chromosome 15 missing in his genetic makeup.
Our 1st few days and weeks home were a bit challenging. Not because we were first time parents with
a newborn, but more so because of latching issues and 1 hour feedings for something so small as an
1oz. With persistence and creativity he continued to gain weight. These early days at home flew by
and at 7 weeks of age came the 1st storm. I was just back to work from maternity leave just barely a
week and received a call from my mom letting me know that she had called an ambulance because
Joey's body was tense, going into a "C" shape and his eyes were “sort of rolling back”.
It wasn't until Joey was about 5 months that we started to become concerned about his progression.
After each ‘well visit' with our pediatrician we were always left with this weight of worry I guess you
would call it, after being asked numerous questions about his milestones. The word “No” was usually
our response to can he do this or that. At times l’d feel as if I did something wrong or I wasn’t doing
enough to get him up and running. 5 months was about the same time that our pediatrician highly
recommended Early Intervention. The cost of this program weighed heavily on us, but of course we
were going to do this for our boy. Money was not going to keep us from allowing him to get the help
he needed.
14. Cont...
The details of the early days can go on and on. Fast forward a bit with little to no gross developmental
progress and at 9 months of age Joey began Physical Therapy through Connecticut's Birth To Three
early intervention program. At a year and 1 month Occupational Therapy began. Followed by Speech
Therapy a few months later. Joey started hitting a few milestones and we couldn't be prouder. Still
delayed? Yes, grossly, cognitively and receptively, but not to worry...'he will catch up'. Honestly, I don't
think it really hit us on how delayed he was until he would play with other children his own age. Our
concerns grew, but so did Joey's skills. However, he still was not 'catching up'. At about a year n' 1/2 we
started questioning whether or not he had something else going on. This question was always
followed by "nope, he doesn't have that".
A simple phone call from our neurologist with the results of Joey's genetic blood work rocked our
world. "Joey has what is called Angelman Syndrome. He has a deletion on chromosome 15. I'm sorry.",
explains our neurologist from her muffled cell phone. Of course my response is, “what does this
mean”, and I was basically told he will never catch up to his peers. There are severe intellectual
disabilities that come with Angelman Syndrome. Still at this point it wasn’t clear to me what this
meant for Joey. You'd think there would be a better explanation from a pediatric neurologist.
We learned more on our own over the next few hours, days and weeks post diagnosis from you tube,
social media, and finding our new Angelman Family that we never knew existed.
Every single day we are reminded that our son has a life altering disability, but we refuse to accept that
'HE WILL NEVER'. Joey is beating the odds every day and continues to rewrite the textbooks as do
other Angels his age and older. The possibility of a cure is not unimaginable. Together with our family,
friends, funding research and HOPE our son will one day have a voice, walk and be an asset to the
world. He will beat the odds because we BELIEVE he can!
15.
16. Cure
AS has been cured in mice both genetically and
pharmacologically. This lets us know we CAN find a
cure for AS in humans.
The gene responsible for AS is the maternally inherited
copy of UBE3A, when it is not expressed in the child.
The paternally inherited copy of UBE3A is present but
in most cases silent.
If scientist and doctors can safely activate the paternal
copy, the protein of this gene could be restored
without the need of gene therapy.