What is a birth defect? pretty sure there is nothing better than brief straight forward information w/o loopy woopy.
Birth defects in general simple terms will be discused, then diving a little deeper.. specially the congenital disorders of the skeletal system.
I made this presentation as a 'seminar assignment', but then I thought why not sharing the info that I have.
*DISCLAIMER: A LOT of the information are from multi sources; My professors, my lectures, internet medical websites, medical textbooks, ..etc. If you find any mistake or a misleading info please do mention it so that everyone takes care and makes sure to get it right!.
**If you're a lecturer or a student whom happens to deliver a presentation on the same subject(s) and find mine useful to do the job (WITH CREDIT) then go bunkers!.
What is a birth defect? pretty sure there is nothing better than brief straight forward information w/o loopy woopy.
Birth defects in general simple terms will be discused, then diving a little deeper.. specially the congenital disorders of the skeletal system.
I made this presentation as a 'seminar assignment', but then I thought why not sharing the info that I have.
*DISCLAIMER: A LOT of the information are from multi sources; My professors, my lectures, internet medical websites, medical textbooks, ..etc. If you find any mistake or a misleading info please do mention it so that everyone takes care and makes sure to get it right!.
**If you're a lecturer or a student whom happens to deliver a presentation on the same subject(s) and find mine useful to do the job (WITH CREDIT) then go bunkers!.
A genetic disorder is a disease caused by a different form of a gene called a variation,
or an alteration of a gene called a mutation. Many diseases have a genetic aspect. Some,
including many cancers, are caused by a mutation in a gene or group of genes in a person's
cells. These mutations can occur randomly or because of an environmental exposure such as
cigarette smoke.
Other genetic disorders are inherited. A mutated gene is passed down through a family
and each generation of children can inherit the gene that causes the disease. Still other
genetic disorders are due to problems with the number of packages of genes called
chromosomes. In Down syndrome, for example, there is an extra copy of chromosome 21.
If you know that you have a genetic problem in your family, you can have genetic testing to see if your baby could be affected.
NIH: National Human Genome Research Institute
Birth Defects was written for healthcare workers who look after individuals with birth defects, their families, and women who are at increased risk of giving birth to an infant with a birth defect. This book is being used in the Genetics Education Programme which trains healthcare workers in genetic counselling in South Africa. It covers: modes of inheritance, medical genetic counselling, birth defects due to chromosomal abnormalities, single gene defects, teratogens, multifactorial inheritance
The Indian Dental Academy is the Leader in continuing dental education , training dentists in all aspects of dentistry and
offering a wide range of dental certified courses in different formats.
A genetic disorder is a disease caused by a different form of a gene called a variation,
or an alteration of a gene called a mutation. Many diseases have a genetic aspect. Some,
including many cancers, are caused by a mutation in a gene or group of genes in a person's
cells. These mutations can occur randomly or because of an environmental exposure such as
cigarette smoke.
Other genetic disorders are inherited. A mutated gene is passed down through a family
and each generation of children can inherit the gene that causes the disease. Still other
genetic disorders are due to problems with the number of packages of genes called
chromosomes. In Down syndrome, for example, there is an extra copy of chromosome 21.
If you know that you have a genetic problem in your family, you can have genetic testing to see if your baby could be affected.
NIH: National Human Genome Research Institute
Birth Defects was written for healthcare workers who look after individuals with birth defects, their families, and women who are at increased risk of giving birth to an infant with a birth defect. This book is being used in the Genetics Education Programme which trains healthcare workers in genetic counselling in South Africa. It covers: modes of inheritance, medical genetic counselling, birth defects due to chromosomal abnormalities, single gene defects, teratogens, multifactorial inheritance
The Indian Dental Academy is the Leader in continuing dental education , training dentists in all aspects of dentistry and
offering a wide range of dental certified courses in different formats.
huntington disease presentation by archana.pdfarchanaawasthi7
Huntington chorea is chronic, progressive, hereditary, autosomal ,neuro degenerative disease of the nervous system that results in progressive involuntary choreiform movement and dementia.
“Metyrosine and Psychosis”
Manila, Philippines; February 24, 2014
Presentation to the Department of Psychiatry and Research Department, University of the Philippines (Manila) College of Medicine, Philippine General Hospital.
*Clinical utility of metyrosine
*Discuss case report of metyrosine in psychosis associated with VCFS
*Discuss proposed clinical study of metyrosine for acute treatment resistant psychosis
A brief information about the SCOP protein database used in bioinformatics.
The Structural Classification of Proteins (SCOP) database is a comprehensive and authoritative resource for the structural and evolutionary relationships of proteins. It provides a detailed and curated classification of protein structures, grouping them into families, superfamilies, and folds based on their structural and sequence similarities.
Seminar of U.V. Spectroscopy by SAMIR PANDASAMIR PANDA
Spectroscopy is a branch of science dealing the study of interaction of electromagnetic radiation with matter.
Ultraviolet-visible spectroscopy refers to absorption spectroscopy or reflect spectroscopy in the UV-VIS spectral region.
Ultraviolet-visible spectroscopy is an analytical method that can measure the amount of light received by the analyte.
Slide 1: Title Slide
Extrachromosomal Inheritance
Slide 2: Introduction to Extrachromosomal Inheritance
Definition: Extrachromosomal inheritance refers to the transmission of genetic material that is not found within the nucleus.
Key Components: Involves genes located in mitochondria, chloroplasts, and plasmids.
Slide 3: Mitochondrial Inheritance
Mitochondria: Organelles responsible for energy production.
Mitochondrial DNA (mtDNA): Circular DNA molecule found in mitochondria.
Inheritance Pattern: Maternally inherited, meaning it is passed from mothers to all their offspring.
Diseases: Examples include Leber’s hereditary optic neuropathy (LHON) and mitochondrial myopathy.
Slide 4: Chloroplast Inheritance
Chloroplasts: Organelles responsible for photosynthesis in plants.
Chloroplast DNA (cpDNA): Circular DNA molecule found in chloroplasts.
Inheritance Pattern: Often maternally inherited in most plants, but can vary in some species.
Examples: Variegation in plants, where leaf color patterns are determined by chloroplast DNA.
Slide 5: Plasmid Inheritance
Plasmids: Small, circular DNA molecules found in bacteria and some eukaryotes.
Features: Can carry antibiotic resistance genes and can be transferred between cells through processes like conjugation.
Significance: Important in biotechnology for gene cloning and genetic engineering.
Slide 6: Mechanisms of Extrachromosomal Inheritance
Non-Mendelian Patterns: Do not follow Mendel’s laws of inheritance.
Cytoplasmic Segregation: During cell division, organelles like mitochondria and chloroplasts are randomly distributed to daughter cells.
Heteroplasmy: Presence of more than one type of organellar genome within a cell, leading to variation in expression.
Slide 7: Examples of Extrachromosomal Inheritance
Four O’clock Plant (Mirabilis jalapa): Shows variegated leaves due to different cpDNA in leaf cells.
Petite Mutants in Yeast: Result from mutations in mitochondrial DNA affecting respiration.
Slide 8: Importance of Extrachromosomal Inheritance
Evolution: Provides insight into the evolution of eukaryotic cells.
Medicine: Understanding mitochondrial inheritance helps in diagnosing and treating mitochondrial diseases.
Agriculture: Chloroplast inheritance can be used in plant breeding and genetic modification.
Slide 9: Recent Research and Advances
Gene Editing: Techniques like CRISPR-Cas9 are being used to edit mitochondrial and chloroplast DNA.
Therapies: Development of mitochondrial replacement therapy (MRT) for preventing mitochondrial diseases.
Slide 10: Conclusion
Summary: Extrachromosomal inheritance involves the transmission of genetic material outside the nucleus and plays a crucial role in genetics, medicine, and biotechnology.
Future Directions: Continued research and technological advancements hold promise for new treatments and applications.
Slide 11: Questions and Discussion
Invite Audience: Open the floor for any questions or further discussion on the topic.
Earliest Galaxies in the JADES Origins Field: Luminosity Function and Cosmic ...Sérgio Sacani
We characterize the earliest galaxy population in the JADES Origins Field (JOF), the deepest
imaging field observed with JWST. We make use of the ancillary Hubble optical images (5 filters
spanning 0.4−0.9µm) and novel JWST images with 14 filters spanning 0.8−5µm, including 7 mediumband filters, and reaching total exposure times of up to 46 hours per filter. We combine all our data
at > 2.3µm to construct an ultradeep image, reaching as deep as ≈ 31.4 AB mag in the stack and
30.3-31.0 AB mag (5σ, r = 0.1” circular aperture) in individual filters. We measure photometric
redshifts and use robust selection criteria to identify a sample of eight galaxy candidates at redshifts
z = 11.5 − 15. These objects show compact half-light radii of R1/2 ∼ 50 − 200pc, stellar masses of
M⋆ ∼ 107−108M⊙, and star-formation rates of SFR ∼ 0.1−1 M⊙ yr−1
. Our search finds no candidates
at 15 < z < 20, placing upper limits at these redshifts. We develop a forward modeling approach to
infer the properties of the evolving luminosity function without binning in redshift or luminosity that
marginalizes over the photometric redshift uncertainty of our candidate galaxies and incorporates the
impact of non-detections. We find a z = 12 luminosity function in good agreement with prior results,
and that the luminosity function normalization and UV luminosity density decline by a factor of ∼ 2.5
from z = 12 to z = 14. We discuss the possible implications of our results in the context of theoretical
models for evolution of the dark matter halo mass function.
Observation of Io’s Resurfacing via Plume Deposition Using Ground-based Adapt...Sérgio Sacani
Since volcanic activity was first discovered on Io from Voyager images in 1979, changes
on Io’s surface have been monitored from both spacecraft and ground-based telescopes.
Here, we present the highest spatial resolution images of Io ever obtained from a groundbased telescope. These images, acquired by the SHARK-VIS instrument on the Large
Binocular Telescope, show evidence of a major resurfacing event on Io’s trailing hemisphere. When compared to the most recent spacecraft images, the SHARK-VIS images
show that a plume deposit from a powerful eruption at Pillan Patera has covered part
of the long-lived Pele plume deposit. Although this type of resurfacing event may be common on Io, few have been detected due to the rarity of spacecraft visits and the previously low spatial resolution available from Earth-based telescopes. The SHARK-VIS instrument ushers in a new era of high resolution imaging of Io’s surface using adaptive
optics at visible wavelengths.
This pdf is about the Schizophrenia.
For more details visit on YouTube; @SELF-EXPLANATORY;
https://www.youtube.com/channel/UCAiarMZDNhe1A3Rnpr_WkzA/videos
Thanks...!
Richard's entangled aventures in wonderlandRichard Gill
Since the loophole-free Bell experiments of 2020 and the Nobel prizes in physics of 2022, critics of Bell's work have retreated to the fortress of super-determinism. Now, super-determinism is a derogatory word - it just means "determinism". Palmer, Hance and Hossenfelder argue that quantum mechanics and determinism are not incompatible, using a sophisticated mathematical construction based on a subtle thinning of allowed states and measurements in quantum mechanics, such that what is left appears to make Bell's argument fail, without altering the empirical predictions of quantum mechanics. I think however that it is a smoke screen, and the slogan "lost in math" comes to my mind. I will discuss some other recent disproofs of Bell's theorem using the language of causality based on causal graphs. Causal thinking is also central to law and justice. I will mention surprising connections to my work on serial killer nurse cases, in particular the Dutch case of Lucia de Berk and the current UK case of Lucy Letby.
1. Parkinson´s DiseaseParkinson´s Disease
paralysis agitansparalysis agitans
parkinsonisumparkinsonisum
shaking palsyshaking palsy
First described in 1817 by anFirst described in 1817 by an
English physician,English physician, JamesJames
ParkinsonParkinson
2. Affects both men & women (50-70)Affects both men & women (50-70)
Chronic progressive degenerative disorderChronic progressive degenerative disorder
Characterised byCharacterised by
A)rigidity of skl musclesA)rigidity of skl muscles
B) tremorsB) tremors
C)akinesia- diff in initiated movementsC)akinesia- diff in initiated movements
5. Clinical features of PDClinical features of PD
Three cardinalThree cardinal
symptoms:symptoms:
→→ resting tremor
→ bradykinesia
(generalized
slowness of
movements)
→ muscle rigidity
6. Resting tremor: Most common first
symptom, usually asymmetric and most
evident in one hand with the arm at
rest.
Bradykinesia: Difficulty with daily
activities such as writing, shaving,
using a knife and fork, and opening
buttons; decreased blinking, slowed
chewing and swallowing.
Rigidity: Muscle tone increased
providing a constant resistance to
passive movements of the joints;
stooped posture, anteroflexed head,
and flexed knees and elbows.
7. Huntington's DiseaseHuntington's Disease
*Autosomal dominant disorder*Autosomal dominant disorder
*Gradual loss of*Gradual loss of
MotorMotor coordination andcoordination and
MentalMental functionfunction
*Dr. George Huntington*Dr. George Huntington
8. What’s in a Name ?What’s in a Name ?
ChoreaChorea" comes from the Greek word for" comes from the Greek word for
""dancedance" and refers to the incessant quick," and refers to the incessant quick,
jerky, involuntary movements that arejerky, involuntary movements that are
characteristic ofcharacteristic of Huntington’s ChoreaHuntington’s Chorea
9. Destroys neurons in areas of the brainDestroys neurons in areas of the brain
involved in theinvolved in the emotionsemotions,, intellectintellect, and, and
movementmovement
ATROPHYATROPHY – Brain Cell Death– Brain Cell Death
10. Jerking uncontrollable movement of the limbs,Jerking uncontrollable movement of the limbs,
trunk, and face (chorea)trunk, and face (chorea)
Progressive loss of mental abilitiesProgressive loss of mental abilities
Development of psychiatric problemsDevelopment of psychiatric problems
12. Cause and Risk FactorsCause and Risk Factors
Having a parent with Huntington'sHaving a parent with Huntington's isis the riskthe risk
factor. A child of an affected parent has a 50%factor. A child of an affected parent has a 50%
chance of inheriting the diseasechance of inheriting the disease
The genetic mutation that occurs in HD gene,The genetic mutation that occurs in HD gene,
located onlocated on chromosome 4chromosome 4,, alters thealters the
huntington protein, which is present in all humanhuntington protein, which is present in all human
beings, and causes Huntington's disease. Howbeings, and causes Huntington's disease. How
the mutation of gene alters the function of thethe mutation of gene alters the function of the
protein is not well understoodprotein is not well understood
13. SymptomsSymptoms
Persons who test positive and arePersons who test positive and are
considering pregnancy are advised toconsidering pregnancy are advised to
seek genetic counseling before theyseek genetic counseling before they
conceiveconceive
14. Choreiform movements-involuntaryChoreiform movements-involuntary
movements of arms & legdmovements of arms & legd
Twitching of faceTwitching of face
Faulty speechFaulty speech
Decrease in acetylcholine & GABADecrease in acetylcholine & GABA
15. Often showsOften shows shrinkageshrinkage of the brain:of the brain:
Actually lose about 30% of brain weightActually lose about 30% of brain weight
Enlarged ventriclesEnlarged ventricles
dementiadementia