The document provides an overview of basic genetics concepts:
1) DNA is stored in chromosomes in the nucleus and contains genetic instructions in the form of genes that are made up of sequences of nucleotide base pairs.
2) DNA gets packaged into chromosomes through coiling and histone proteins for efficient storage in the nucleus.
3) The order of base pairs in genes determines the sequence of amino acids that make up proteins, which influence traits. Inherited genetic mutations can cause genetic disorders.
Genes, Chromosomes, and Genetic Code: Relevance and ImplicationsJen Gragera
Genes are the thing that determines your unique traits from the inside out. They play an important role in your overall health but they can also make you more susceptible for certain health problems and diseases, in the first place those that run in your family. Most diseases are a result of a combination of multiple factors including dietary, lifestyle and environmental factors. However, it is also possible to develop health problems exclusively due to genetic abnormalities and mutations.
Genes, Chromosomes, and Genetic Code: Relevance and ImplicationsJen Gragera
Genes are the thing that determines your unique traits from the inside out. They play an important role in your overall health but they can also make you more susceptible for certain health problems and diseases, in the first place those that run in your family. Most diseases are a result of a combination of multiple factors including dietary, lifestyle and environmental factors. However, it is also possible to develop health problems exclusively due to genetic abnormalities and mutations.
Chapter 16 Genetics
What Is a Gene?
Chromosomes: Packages of Genetic Information
The Structure of DNA
DNA Replication
How Proteins Are Built
Genetic Mutations
How Radioactivity Causes Genetic Mutations
Meiosis and Genetic Diversity
Mendelian Genetics
More Wrinkles: Beyond Mendelian Genetics
The Human Genome
Cancer: Genes Gone Awry
Environmental Causes of Cancer
Transgenic Organisms and Cloning
DNA Technology—What Could Possibly Go Wrong?
History of Science: Discovery of the Double Helix
Technology: Gene Therapy
Science and Society: Genetic Counseling
Science and Society: DNA Forensics
GENETICS - Dr. P. Saranraj, Assistant Professor, Department of Microbiology, Sacred Heart College (Autonomous), Tirupattur, Vellore District, Tamil Nadu, India
Chapter 16 Genetics
What Is a Gene?
Chromosomes: Packages of Genetic Information
The Structure of DNA
DNA Replication
How Proteins Are Built
Genetic Mutations
How Radioactivity Causes Genetic Mutations
Meiosis and Genetic Diversity
Mendelian Genetics
More Wrinkles: Beyond Mendelian Genetics
The Human Genome
Cancer: Genes Gone Awry
Environmental Causes of Cancer
Transgenic Organisms and Cloning
DNA Technology—What Could Possibly Go Wrong?
History of Science: Discovery of the Double Helix
Technology: Gene Therapy
Science and Society: Genetic Counseling
Science and Society: DNA Forensics
GENETICS - Dr. P. Saranraj, Assistant Professor, Department of Microbiology, Sacred Heart College (Autonomous), Tirupattur, Vellore District, Tamil Nadu, India
Genetics is the science of studying how living things pass on characteristics or traits and its variations in their cell make-up from one generation to the other.
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.
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.
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.
These lecture slides, by Dr Sidra Arshad, offer a quick overview of physiological basis of a normal electrocardiogram.
Learning objectives:
1. Define an electrocardiogram (ECG) and electrocardiography
2. Describe how dipoles generated by the heart produce the waveforms of the ECG
3. Describe the components of a normal electrocardiogram of a typical bipolar leads (limb II)
4. Differentiate between intervals and segments
5. Enlist some common indications for obtaining an ECG
Study Resources:
1. Chapter 11, Guyton and Hall Textbook of Medical Physiology, 14th edition
2. Chapter 9, Human Physiology - From Cells to Systems, Lauralee Sherwood, 9th edition
3. Chapter 29, Ganong’s Review of Medical Physiology, 26th edition
4. Electrocardiogram, StatPearls - https://www.ncbi.nlm.nih.gov/books/NBK549803/
5. ECG in Medical Practice by ABM Abdullah, 4th edition
6. ECG Basics, http://www.nataliescasebook.com/tag/e-c-g-basics
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.
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
- Video recording of this lecture in English language: https://youtu.be/lK81BzxMqdo
- Video recording of this lecture in Arabic language: https://youtu.be/Ve4P0COk9OI
- Link to download the book free: https://nephrotube.blogspot.com/p/nephrotube-nephrology-books.html
- Link to NephroTube website: www.NephroTube.com
- Link to NephroTube social media accounts: https://nephrotube.blogspot.com/p/join-nephrotube-on-social-media.html
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
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
3. Introduction
Genetics is nothing but a communication from the parents to their off-springs.
Our body contains 50 trillion cells performing different functions. The genetic material
stored in the nucleus is also to be communicated to the factory manufacturing the
protein for that cell. This communication is a written communication and not a verbal
communication.
For any communication, one requires a language, the language again has sentences
and they in turn are made of words and each word is a collection of letters from the
alphabets.
Again the communication has to be in a language where the messenger will take the
message and should be understood by the person for whom the communication has
been made.
4.
5. How DNA, which is almost 3 meter, is super coiled and kept in
form of 23 pairs of pieces or parts inside the nucleus of the cell.
What looks like a chromosome?
6. Introduction
In genetics, the DNA from the nucleus has to send the message to the
ribosome (factory) in the cytoplasm to translate the language into action
i.e. manufacture of proteins.
Here the alphabet has only four letters A, C, T, G (base pairs), the words
have 3 letters (ATG, CTA) and the sentences are meaningful use of words
.
In genetics the sentences are meaningful only if they can help in
formation of protein, and are known as the genes.
7. The Basics of DNA
Almost every cell contains the complete
set of instructions for making us. These
instructions are encoded in our DNA.
DNA is a long, ladder-shaped molecule.
Each rung on the ladder is made up of
a pair of interlocking units, called bases,
that are designated by the four letters
in the DNA alphabet - A, T, G and C. 'A'
always pairs with 'T', and 'G' always
pairs with 'C'.
8. The Basics of DNA
The information in DNA is stored as a code made up of four
chemical bases: adenine (A), guanine (G), cytosine (C), and
thymine (T).
Human DNA consists of about 3 billion bases, and more than 99
percent of those bases are the same in all people.
The order, or sequence, of these bases determines the
information available for building and maintaining an organism,
similar to the way in which letters of the alphabet appear in a
certain order to form words and sentences.
9. DNA bases pair up with each other, A with T and C with G, to
form units called base pairs.
Each base is also attached to a sugar molecule and a phosphate
molecule. Together, a base, sugar, and phosphate are called a
nucleotide.
The structure of the double helix is somewhat like a ladder, with
the base pairs forming the ladder’s rungs and the sugar and
phosphate molecules forming the vertical sidepieces of the
ladder.
10. An important property of DNA is that it can replicate, or make copies of itself. Each strand of DNA in the
double helix can serve as a pattern for duplicating the sequence of bases. This is critical when cells
divide because each new cell needs to have an exact copy of the DNA present in the old cell.
e.g. DNA strand is made of letters (only 4 letters in this alphabet) (ATCG)
ATGCTCGAATAAATGTCAATTTGA
The letter makes words:
ATG, CTC, GAA, TAA, ATG, TCA, ATT, TGA
The words make sentences:
< ATG CTC GAA TAA > this sequence codes for a particular amino acids, which then helps in synthesis
of protein. Since this part of DNA (or the sentence) is helping in protein synthesis, it is called a gene.
11. Similarly:
< ATG TCA ATT TGA > this
sequence codes for a
particular amino acids, which
then helps in synthesis of
protein. Since this part of DNA
(or the sentence) is helping in
protein synthesis, it is also
called a gene
12. DNA is Organized Into Chromosomes..
The long molecules of DNA in your cells are organized
into pieces called chromosomes. Chromosomes can
be stained and seen under the microscope.
Humans have 23 pairs of chromosomes. One from
each parent. Other organisms have different numbers
of pairs - for example, chimpanzees have 24 pairs.
The number of chromosomes doesn't determine how
complex an organism is - bananas have 11 pairs of
chromosomes, while fruit flies have only 4.
13. Chromosomes are organized into Genes..
Chromosomes are further organized into short
segments of DNA called genes.
If you imagine your DNA as a cookbook, then
your genes are the recipes. Written in the DNA
alphabet - A, T, C, and G - the recipes tell your
cells how to function and what traits to express.
For example, if you have curly hair, it is because
the genes you inherited from your parents are
instructing your hair follicle cells to make curly
strands.
14. Genes Make Proteins..
Cells use the recipes written in your genes to make
proteins - just like you use recipes from a cookbook
to make dinner. Proteins do much of the work in
your cells and your body as a whole.
Some proteins give cells their shape and structure.
Others help cells carry out biological processes like
digesting food or carrying oxygen in the blood.
Using different combinations of the A, C, T and G,
DNA creates the different proteins - just as you use
different combinations of the same ingredients to
make different meals.
15. Chromosomes
It is a single piece of coiled DNA containing
many genes, Chromosomes in humans can be
divided into two type: Autosomes and Sex
chromosomes
Certain genetic traits are linked to a person's sex
and are passed on through the sex
chromosomes. The autosomes contain the rest
of the genetic hereditary information.
All act in the same way during cell division.
Human cells have 23 pairs of chromosomes (22
pairs of autosomes and one pair of sex
chromosomes), giving a total of 46 per cell.
16. Genetic Switches Control the Traits Cells Express
Cells come in a dizzying array of types; there are
brain cells and blood cells, skin cells and liver cells
and bone cells. But every cell contains the same
instructions in the form of DNA. So how do cells
know whether to make an eye or a foot?
The answer lies in intricate systems of genetic
switches. Master genes turn other genes on and off,
making sure that the right proteins are made at the
right time in the right cells.
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45. Chromosomal disorders:
Disorders occurring due to chromosomal aberrations are called as
chromosomal disorders. These aberrations may be structural or
numerical defects occur in chromosomes.
There may be loss or gain of a part or whole of chromosome.
Chromosomal defects are usually not inherited but remain limited
to the individual
A gain of chromosome in the 21st pair of chromosome. The
condition, Trisomy 21 results in Down syndrome, the commonest
cause of mental retardation.
46. Genetic Disorders:
Genes are situated on chromosomes.
Genes are made up of codons.
Each codon consists of three nucleic acids
Each gene codes for a protein. In other words, a sequence of nucleic
acids on the chromosome that codes for a protein is called as ‘gene’
sequences of nucleic acids.
Genetic defect is any change, deletion or insertion in the sequence of
nucleic acids is called ‘mutation’
47. Genetic Disorders are caused by defects or ‘mutations’ in genes. Defects in multiple genes lead to
complex disorders having multifactorial inheritance but when disorders are caused by mutations in
single genes, inheritance is in simple Mendelian fashion and risks can be predicted.
Single Gene Disorders
Mutation can be Dominant or Recessive
Dominant mutation- mutation in one gene of a pair causes disease
Recessive mutation- defect in both genes of a pair causes disease
Diseases due to recessive mutation have a carrier (trait) state and a disease state
Carriers pass the trait to next generation
48. Types of Inheritance
Autosomal dominant
Autosomal recessive
X-linked dominant
X-linked recessive (Gene on X chromosome)
Y- linked (Gene on Y chromosome)
Carrier screening of populations can be applied for control and
prevention of autosomal and X-linked recessive disorders.
51. Genetic counseling in case of genetic disorders
Family history- disease occurring in any family member related biologically
If autosomal disease and the carrier state is detectable, advice premarital testing
to avoid marriage between two carriers and post marital testing to avail prenatal
diagnosis followed by termination of pregnancy
If X- linked disease, advise screening of female members for carrier state
Multifactorial inheritance: advice
Avoidance of environmental and nutritional risk factors associated with disease
Modulation of lifestyle to counter genetic predisposition
Regular check-ups for early detection
52. To Summarize…
Children resemble their parents. This is because the genetic material they inherit
from both their parents.
The smallest unit of this genetic material is DNA, which is kept in the nucleus of
the cell like a fort within a city. Deoxyribonucleic acid. DNA encodes a detailed
set of plans and is the blue print for building different types of function of the
cell.
DNA looks like a twisted ladder where there is a turn after every few rungs or
steps
The sides have a sugar and a phosphate and the rungs are made of 4 letters of
the alphabet: A, T, C, and G. These letters join together according to a special
rule: A will always pair with T and C with G; attached to either of the sidewalls.
53. To Summarize…
Order of sequences of these base pairs or the letters in the alphabet provided
the information needed for growth and development
This is because the sequence of the 4 letters gives rise to the sequence of
words: 64 such (3 letter word: codon). The meaningful assimilation of words is
sentence. The sentence helps in formation of protein. The meaningful part of
DNA is gene, which helps in protein synthesis.
The sequence of the codons helps in formation of sequential amino acids: 20
such. The sequence of the amino acids helps in the formation of protein: 1000
such proteins.
The steps or rungs are formed by the bonding of A with T and C with G. Thus A
on one side of the ladder joins T on the other side and cemented together by
the Hydrogen bonding
54. To Summarize…
The size of the DNA within the cell can be as long as 3 meters, the size of a
car but still it cannot be seen under a microscope but can be studied through
help of X-ray
Hence this has to be packed in an efficient way to keep it inside the Nucleus.
So it is highly coiled along with packing material histones and looks like a
coiled thread under a microscope with a shape of X during cell division known
as the chromosomes.
Thus chromosomes consist of a long single piece of DNA, containing many
genes kept in the nucleus by coiling many times with help of proteins like
histones. Human cells have 23 pairs of chromosome (22 pairs of autosomes
and one pair of sex chromosomes)
55. To Summarize…
Certain genetic traits are linked to the autosomes so are
called autosomal recessive or autosomal dominant depending
upon the gene and certain traits are linked with the sex
chromosomes.
Genes come in pairs
Genes don't blend
Genetic inheritance follows rules.