PGD combines IVF with genetic testing of embryos before implantation. It aims to identify genetic defects or chromosomal abnormalities to select healthier embryos. There are two main types of testing - PCR for single gene disorders and FISH/CGH for aneuploidies. While PGD can reduce risks of genetic diseases and miscarriages, it has limitations as not all abnormalities can be detected and the procedure carries a small risk of embryo damage. As techniques advance to test all chromosomes, PGD may help avoid more conditions but remains an expensive and specialized procedure currently only available at certain IVF clinics in India.
PGD is a state-of-the-art procedure used in conjunction with In Vitro Fertilization (IVF) in which the embryo is tested for certain conditions prior to being placed in the womb of the woman.
PGD combines advances in Molecular genetics and in assisted reproductive technology and is conducted before the embryo is placed inside the womb of the woman.Pre implantation genetic diagnosis was introduced to prevent the inheritance of sex linked diseases
PGD is a state-of-the-art procedure used in conjunction with In Vitro Fertilization (IVF) in which the embryo is tested for certain conditions prior to being placed in the womb of the woman.
PGD combines advances in Molecular genetics and in assisted reproductive technology and is conducted before the embryo is placed inside the womb of the woman.Pre implantation genetic diagnosis was introduced to prevent the inheritance of sex linked diseases
In-vitro fertilization (IVF) is a process by which oocytes are fertilized by sperm outside the women’s womb, in vitro. It still represents one of the most exciting modern scientific developments and continues to have a tremendous impact on
people's lives.
Here, we will discuss all about the embryo development inside the dish.
Also we discuss which embryo to choose for transferring into female's uterus.
Sperm DNA Fragmentation (Oxidative stress, DNA damage and apoptosis, Test, Techniques, Relation to other semen parameters, Relationship to leucocytes, Relation to ICSI outcomes, Clinical applications, significance and limitations)
Lecture on prenatal genetic diagnostic techniques and their value in detection of prenatal genetic anomalies. This lecture details techniques employed in the common diagnostic interventions used in prenatal period and their usefulness.
NIPT (Non-Invasive Prenatal Testing) otherwise known as NIPD (Non-Invasive Prenatal Diagnosis) is used to analyze the cell-free fetal DNA which is circulated in maternal blood.
In-vitro fertilization (IVF) is a process by which oocytes are fertilized by sperm outside the women’s womb, in vitro. It still represents one of the most exciting modern scientific developments and continues to have a tremendous impact on
people's lives.
Here, we will discuss all about the embryo development inside the dish.
Also we discuss which embryo to choose for transferring into female's uterus.
Sperm DNA Fragmentation (Oxidative stress, DNA damage and apoptosis, Test, Techniques, Relation to other semen parameters, Relationship to leucocytes, Relation to ICSI outcomes, Clinical applications, significance and limitations)
Lecture on prenatal genetic diagnostic techniques and their value in detection of prenatal genetic anomalies. This lecture details techniques employed in the common diagnostic interventions used in prenatal period and their usefulness.
NIPT (Non-Invasive Prenatal Testing) otherwise known as NIPD (Non-Invasive Prenatal Diagnosis) is used to analyze the cell-free fetal DNA which is circulated in maternal blood.
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.
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
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
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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.
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
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.
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.
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.
Ethanol (CH3CH2OH), or beverage alcohol, is a two-carbon alcohol
that is rapidly distributed in the body and brain. Ethanol alters many
neurochemical systems and has rewarding and addictive properties. It
is the oldest recreational drug and likely contributes to more morbidity,
mortality, and public health costs than all illicit drugs combined. The
5th edition of the Diagnostic and Statistical Manual of Mental Disorders
(DSM-5) integrates alcohol abuse and alcohol dependence into a single
disorder called alcohol use disorder (AUD), with mild, moderate,
and severe subclassifications (American Psychiatric Association, 2013).
In the DSM-5, all types of substance abuse and dependence have been
combined into a single substance use disorder (SUD) on a continuum
from mild to severe. A diagnosis of AUD requires that at least two of
the 11 DSM-5 behaviors be present within a 12-month period (mild
AUD: 2–3 criteria; moderate AUD: 4–5 criteria; severe AUD: 6–11 criteria).
The four main behavioral effects of AUD are impaired control over
drinking, negative social consequences, risky use, and altered physiological
effects (tolerance, withdrawal). This chapter presents an overview
of the prevalence and harmful consequences of AUD in the U.S.,
the systemic nature of the disease, neurocircuitry and stages of AUD,
comorbidities, fetal alcohol spectrum disorders, genetic risk factors, and
pharmacotherapies for AUD.
4. PRE-IMPLANTATION GENETIC
DIAGNOSIS (PGD)
What is PGD?
First reported in 1990, PGD combines advances in
molecular genetics and in assisted reproductive
technology and is conducted before the embryo is
placed in the womb of the woman .
PGD is a procedure used in conjunction with In Vitro
Fertilization (IVF) in which genetic analysis is done of
a single cell from an eight-cell embryo.
PGD is conducted with an intention to improve the
chances of a “normal” pregnancy.
WHY?
5. PRE-IMPLANTATION GENETIC
DIAGNOSIS (PGD)
Why PGD?
Reproductive failure (i.e. failed implantation, miscarriages
and major birth anomalies) are far more likely to be due to
embryo incompetence (70-75%) than to a lack of uterine
receptivity (25-30%).
The number of chromosomes in a cell is referred to as its
ploidy.
A cell with a normal number of chromosomes is
referred to, as euploid, while one with an irregular
chromosome number is aneuploid.
Itappears that it is the ploidy of the mature egg (rather
than the sperm) that determines the post-fertilization
chromosome configuration of the embryo.
The embryo's ploidy, in turn, determines its competence.
6. ANEUPLOIDY
Aneuploidy = abnormal number of chromosomes,
and is a type of chromosome abnormality.
An extra or missing chromosome is a common cause
of genetic disorders (birth defects).
Aneuploidy occurs during cell division when the
chromosomes do not separate properly between the
2 cells.
Aneuploidy =most frequent cause of spontaneous
abortions.
Aneuploidy outcome- termination of developing fetus,
Most common extra chromosomes among live births are
21, 18 and 13.
7. WHY CONSIDER PGD IN ADDITION TO
IVF?
Chromosome abnormalities (aneuploidies) are
associated with failed implantation, pregnancy loss,
and the birth of children with multiple congenital
anomalies.
Preimplantation genetic diagnosis (PGD) provides a
means of testing for these chromosome abnormalities
and selecting the best embryos for transfer.
So, what is aneuploidy?
8. WHEN TO CONSIDER PGD IN ADDITION
TO IVF?
Recurrent miscarriages
One child already affected with a genetic disease
Family history of inherited disease
Maternal age older than 38
Couples with >3 IVF failures
Epididymal or Testicular sperm aspiration with >1 IVF
failures
Family “balancing” for sex
9. INDICATIONS FOR PGD
When there is suspicion of Chromosomal Disorders
Chromosomal rearrangements
Inversions
Translocations
Chromosome Deletions
Severe monogenic diseases
cystic fibrosis,
ß thalassaemia,
sickle cell anemia,
fragile X syndrome,
myopathies
10. STAGES IN PGD
1. Monitor egg maturation in
the ovary by the use of
Ultrasound & Hormone
levels
2. Collect eggs (mother’s own
or from donor) in 2 steps -
A. Injection of human chorionic
gonadotropin (hCG) and
follicle stimulating hormone
(FSH) to time egg ripening
B. Transvaginal aspiration
using hollow needle
11. STAGES IN PGD
3. Obtain sperm from father/donor) & assess quality
4. Combine eggs and sperm in vitro, using
intracytoplasmic sperm injection (ICSI), if sperm is
low quality
5. Nurture embryo growth by incubating in medium
containing various nutrients and hormones
6. For doing PGD, remove one cell called blastomere
from the 6-8-cell embryo after 2-3 days (6-8 cell
stage) for testing.
7. If fine on PDG, incubate until embryo is 5-6 days old
(blastocyst) and transfer embryos (usually 3-6) to
uterus, artifically removing zona pellucida.
12. METHOD OF PGD
In skilled hands, this generally does not harm
the developing embryo and this is done using a
fine glass needle to puncture the zona pellucida
and aspirate the cell.
Blastomere Biopsy on Day 3
Genetic
Analysis
13. PROBLEMS WITH PGD
The single blastomere cell cells contains too little DNA
to do extensive testing.
So “modified multiple displacement amplification” is
done to allow researchers to amplify or make carbon
enough copies of the DNA they obtain from an embryo
obtained by in vitro fertilization, to do multiple tests.
The amplified DNA from the couple’s embryos are then
sent for testing for aneuploidy using a test called 23-
chromosome microarray.
14. BENEFITS OF PGD
Increases implantation success rate
Reduction in the chance of having a child with
aneuploidy
Reduces the possibility of having to choose to
terminate the pregnancy following a diagnosis of
a probable genetic disorder.
Reduction in pregnancy losses
16. PGD PROCESS
2 types of PGD assessment techniques are common:
1. Genetic testing for specific disease loci by Polymerase
Chain Reaction (PCR) or gene chips) amplification of DNA
specific to a gene of interest (family history guides choice
of genes).
2. Chromosome “painting” or Fluorescence In Situ
Hybridization (FISH)
17. PCR
Molecular genetic disorders, i.e single gene
disorders - diagnosed by PCR
Appears to be available in India in some clinics
Needs to be adapted to single-cell PCR due to
scarcity of embryonic material available
18. PCR - GENETIC DISORDERS
DETECTABLE
Tay Sachs (autosomal recessive; ~98% accuracy)
Cystic fibrosis (autosomal recessive; ~85% for
common allele mutation)
Huntington’s disease (autosomal dominant)
Thalassemias (autosomal recessive blood disorder)
Duchenne muscular dystrophy (X-linked recessive)
Spinal muscular atrophy
As more genetic tests are developed, more will be
available for predictive purposes in PDG.
19. FISH
Appears to be the most widely performed PGD test in
India & involves chromosome “painting” or
karyotyping, using fluorescent probes specific for each
chromosome.
This procedure destroys the tested cell but permits
number and size of each chromosome to be checked.
Useful for identifying aneuploidies (incorrect
chromosome numbers) and translocations.
Conventional FISH cannot fully access all the
chromosomes - in fact, only about 12 of them.
20. FISH
Thus, even when FISH reveals that all the accessed
chromosomes are normal, there still remains more
than a 40% chance of chromosomal aneuploidy
involving those chromosomes not targeted by the test.
FISH testing is able to detect the most common
chromosome abnormalities in order to reduce the risk
of having an affected pregnancy or child., including
Down syndrome,
Trisomy 18,
Trisomy 13, and
sex chromosome anomalies.
21. CGH / CMA
Comparative genomic hybridization (CGH) is a
molecular-cytogenetic method for the analysis of copy
number changes (gains/losses) in the DNA content of a
given subject's DNA
This technique compares the amount of DNA present
for each chromosome in a single cell, and compares it
to that of a normal standard.
Chromosomal Microarray Analysis (CMA) allows for
evaluation of all 23 chromosome pairs in a single cell.
Research shows, however, that abnormalities
involving any chromosome can increase the risk of
miscarriage and reduce the effectiveness of IVF.
22. CGH / CMA
This test is valuable at looking for previously unknown
mutations that can lead to children with dysmorphic
features, developmental delays, mental retardation,
and autism.
Microarray can be performed on three different sample
types:
polar bodies (from fertilized eggs),
blastomeres (from Day 3 embryos), or
blastocyst/trophectoderm (from Day 5 embryos).
23-chromosome microarray will replace FISH for this
reason .
23. CGH / CMA
Relatively new technique
Does not appear to be
available in India.
By the CMA chromosome
testing, one is able to
analyze the entire
chromosome complement
of a single cell, reducing
the risk of failed
implantation and
miscarriage, and
increasing the chance of
having a healthy baby
24. TRANSLOCATION TESTING
Accuracy of the PGD for translocation is 90%
and may be of 2 types:
1. “Balanced” if chromosome material merely
switches locations with no net loss or gain; or
2. “Unbalanced” if switch is accompanied by a net
loss or net gain of genetic material
26. PGD - ADVANTAGES
PGD can help eliminate some genetic diseases cures for
which are not likely to be found soon (eg,
Tay-Sachs disease,
cystic fibrosis,
Huntington disease,
X-linked dystrophies.
genetic disease testing is currently performed through
amniocentesis or chorionic villus testing (CVS) with
fetus aged 10-16 weeks.
If positive for genetic defect, the option is to have a child
with a genetic disease or to undergo MTP.
Difficult and often traumatic decision that PGD can
eliminate.
27. PGD - LIMITATIONS
PGD is expensive, time and labor intensive to develop
and work with single-cell diagnostic techniques.
PGD can only detect a specific genetic disease in an
embryo.
Itcannot detect many genetic disorders at a time and
cannot guarantee that the fetus will not have an unrelated
birth defect.
Removal of a single cell without breaking it or causing
serious damage is technically difficult and requires
skill and experience. Damage to the embryo (projected
to be 0.1%) may accidentally occur during removal of
the cell.
28. PGD - LIMITATIONS
For aneuploidy screening, not all chromosomal or
genetic abnormalities can be diagnosed with PGD
because only a restricted number of chromosomes can
be examined at one time during the course of a single
procedure.
Currently, FISH offers evaluation of less than half of
the 23 chromosomes; usually 9-11 are analyzed.
Studies using comparative genetic hybridization (CGH)
and FISH demonstrate that as many as 25% of
aneuploid embryos are characterized as normal
because the abnormal chromosomes were not analyzed.
29. PGD - LIMITATIONS
Current recommendations from the Society for Assisted
Reproductive Technology (SART) and American Society
for Reproductive Medicine (ASRM) state that
Available evidence does not support the use of PGS to
improve live-birth rates for advanced maternal age,
recurrent pregnancy loss, or implantation failure
Also recommends that patients be counseled about the
limitations of the technique and should not make future
treatment decisions based solely on PGD result.
30. PGD - POTENTIAL
In the future, genetic links to common diseases (eg,
diabetes, hypertension, cardiovascular diseases,
endometriosis, cancers) may be identified, and PGD
will become available to control the transmission of
these diseases to future generations.
31. PGD –
EQUIPMENT/CONSUMABLES/MANPOWE
R
Equipment cost is negligible and consists of:
Thermal cyclers, fluorescence microscopes
The problem is with:
High consumable cost – for PCR, FISH and CGH
Manpower cost – also very high. Need highly trained
personnel
32. PGD - LOCATION
A PGD test center would presumably need to be
attached to an IVF clinic – time between testing and
implantation is 1-2 days.
Transport of genetic material/embryos does not seem
feasible.
Hospitals – some offer PGD (*), others just have IVF
clinics
Dozens of IVF clinics across India
Many claim to offer PGD (primarily FISH)
The Centre for DNA Fingerprinting and Diagnostics
(CDFD) – currently not offering PGD but a VERY
wide range of pre-natal tests offered.
http://www.cdfd.org.in/index.html
Diagnostic methods in PGD are based on DNA technology. PCR is used for the detection of single gene mutations related to monogenic disorders while FISH is used to screen for aneuploidy or structural chromosomal abnormalities Sophie will give an in depth talk on the methods of analysis.