Inborn errors of metabolism
Definition:- Inborn errors of metabolism occur from a group of rare genetic disorders in which the body cannot metabolize food components normally.
These disorders are usually caused by defects in the enzymes involved in the biochemical pathways that break down food components.
Are most abundantly distributed organic compounds.
70 kg man= protein weight constitute 12 kg
Skeleton and connective tissue contains half
Body protein and other half is intracellular.
LHD is an enzyme which is width sprid through the body tissue has an important role in the conversion of pyrovate into lactate within the tissue when ever there is hypoxia in the body
Inborn errors of metabolism
Definition:- Inborn errors of metabolism occur from a group of rare genetic disorders in which the body cannot metabolize food components normally.
These disorders are usually caused by defects in the enzymes involved in the biochemical pathways that break down food components.
Are most abundantly distributed organic compounds.
70 kg man= protein weight constitute 12 kg
Skeleton and connective tissue contains half
Body protein and other half is intracellular.
LHD is an enzyme which is width sprid through the body tissue has an important role in the conversion of pyrovate into lactate within the tissue when ever there is hypoxia in the body
Short bowel syndrome is one of the most complex sequel to resection of extensive lengths of the small intestine. The nutritional depletion caused exerts deleterious effects on every organ system of the body. Identifying and managing this complex problem is the biggest challenge to the clinician. The pathophysiology and therapeutic approach to short bowel syndrome is discussed
This presentation explores a brief idea about the structural and functional attributes of nucleotides, the structure and function of genetic materials along with the impact of UV rays and pH upon them.
Salas, V. (2024) "John of St. Thomas (Poinsot) on the Science of Sacred Theol...Studia Poinsotiana
I Introduction
II Subalternation and Theology
III Theology and Dogmatic Declarations
IV The Mixed Principles of Theology
V Virtual Revelation: The Unity of Theology
VI Theology as a Natural Science
VII Theology’s Certitude
VIII Conclusion
Notes
Bibliography
All the contents are fully attributable to the author, Doctor Victor Salas. Should you wish to get this text republished, get in touch with the author or the editorial committee of the Studia Poinsotiana. Insofar as possible, we will be happy to broker your contact.
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.
DERIVATION OF MODIFIED BERNOULLI EQUATION WITH VISCOUS EFFECTS AND TERMINAL V...Wasswaderrick3
In this book, we use conservation of energy techniques on a fluid element to derive the Modified Bernoulli equation of flow with viscous or friction effects. We derive the general equation of flow/ velocity and then from this we derive the Pouiselle flow equation, the transition flow equation and the turbulent flow equation. In the situations where there are no viscous effects , the equation reduces to the Bernoulli equation. From experimental results, we are able to include other terms in the Bernoulli equation. We also look at cases where pressure gradients exist. We use the Modified Bernoulli equation to derive equations of flow rate for pipes of different cross sectional areas connected together. We also extend our techniques of energy conservation to a sphere falling in a viscous medium under the effect of gravity. We demonstrate Stokes equation of terminal velocity and turbulent flow equation. We look at a way of calculating the time taken for a body to fall in a viscous medium. We also look at the general equation of terminal velocity.
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.
The ability to recreate computational results with minimal effort and actionable metrics provides a solid foundation for scientific research and software development. When people can replicate an analysis at the touch of a button using open-source software, open data, and methods to assess and compare proposals, it significantly eases verification of results, engagement with a diverse range of contributors, and progress. However, we have yet to fully achieve this; there are still many sociotechnical frictions.
Inspired by David Donoho's vision, this talk aims to revisit the three crucial pillars of frictionless reproducibility (data sharing, code sharing, and competitive challenges) with the perspective of deep software variability.
Our observation is that multiple layers — hardware, operating systems, third-party libraries, software versions, input data, compile-time options, and parameters — are subject to variability that exacerbates frictions but is also essential for achieving robust, generalizable results and fostering innovation. I will first review the literature, providing evidence of how the complex variability interactions across these layers affect qualitative and quantitative software properties, thereby complicating the reproduction and replication of scientific studies in various fields.
I will then present some software engineering and AI techniques that can support the strategic exploration of variability spaces. These include the use of abstractions and models (e.g., feature models), sampling strategies (e.g., uniform, random), cost-effective measurements (e.g., incremental build of software configurations), and dimensionality reduction methods (e.g., transfer learning, feature selection, software debloating).
I will finally argue that deep variability is both the problem and solution of frictionless reproducibility, calling the software science community to develop new methods and tools to manage variability and foster reproducibility in software systems.
Exposé invité Journées Nationales du GDR GPL 2024
Comparing Evolved Extractive Text Summary Scores of Bidirectional Encoder Rep...University of Maribor
Slides from:
11th International Conference on Electrical, Electronics and Computer Engineering (IcETRAN), Niš, 3-6 June 2024
Track: Artificial Intelligence
https://www.etran.rs/2024/en/home-english/
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.
THE IMPORTANCE OF MARTIAN ATMOSPHERE SAMPLE RETURN.Sérgio Sacani
The return of a sample of near-surface atmosphere from Mars would facilitate answers to several first-order science questions surrounding the formation and evolution of the planet. One of the important aspects of terrestrial planet formation in general is the role that primary atmospheres played in influencing the chemistry and structure of the planets and their antecedents. Studies of the martian atmosphere can be used to investigate the role of a primary atmosphere in its history. Atmosphere samples would also inform our understanding of the near-surface chemistry of the planet, and ultimately the prospects for life. High-precision isotopic analyses of constituent gases are needed to address these questions, requiring that the analyses are made on returned samples rather than in situ.
What is greenhouse gasses and how many gasses are there to affect the Earth.moosaasad1975
What are greenhouse gasses how they affect the earth and its environment what is the future of the environment and earth how the weather and the climate effects.
2. contents
Introduction
Kwashiorkor
Causes
Medical reasons
Circumstantial causes
The main causes of
starvation
Sign and symptoms
Changes in
carbohydrate
metabolism
Changes in fat
metabolism
Changes in protein
metabolism
Changes in water and
mineral metabolisms
Prevention
Treatment
Reference
3.
Starvation is a severe
deficiency in
caloric energy intake,
below the level
needed to maintain an
organism's life
6. Anorexia nervosa
Bulimia nervosa
Eating disorder, not otherwise specified
Celiac disease
Coma
Major depressive disorder
Diabetes mellitus
Digestive disease
Constant vomiting
Medical reasons
7.
Child/ Elder/ Dependent Abuse
Famine– for any reason, such as political strife and
war
Excessive fasting
Poverty
Circumstantial causes
8.
Economy
Food scarcity in the society
Diseases that can cause rapid weight loss
The person may also be the host to a parasite such as
an intestinal worm
Clinical conditions, such as recovering from surgery
or burns, etc
The main causes of starvation
9.
impulsivity
Irritability
Hyperactivity
Atrophy (wasting away) of the stomach weakens the
perception of hunger.
starvation lose substantial fat (adipose tissue) and muscle
mass as the body breaks down these tissues for energy
Sign and symptoms
10. Catabolysis
Fatigue
interaction with the surrounding world diminishes
In females, menstruation ceases when the body fat percentage
is too low to support a fetus.
Victims of starvation are often too weak to sense thirst, and
therefore become dehydrated
All movements become painful due to muscle atrophy and
dry, cracked skin that is caused by severe dehydration
11. Fungi
Vitamin deficiency - anemia, beriberi, pellagra,
and scurvy
diarrhea, skin rashes, edema, and heart failure
medical study estimates that in adults complete
starvation leads to death within 8 to 12 weeks
individual has lost about 30% of their normal body
weight
12.
Changes in carbohydrate metabolism
An important function of liver is to act as a blood glucose
buffering organ
A couple of days of fasting rapidly uses up tissue glycogen
. Hypoglycemia depress insulin secretion but enhances secretion
of glucagon adrenaline and glucocorticoids
key gluconeogenesis enzymes enhance gluconeogenesis and
glycogenolysis and maintain the liver and muscle glycogen and
the blood sugar, though at a subnormal level
13. Gluconeogenesis from proteins is considerable in
the liver and kidneys in the first few weeks, but
continues later at a reduced rate mainly in kidneys.
Hepatic glycogenesis - consequence of
hypoglycemia
Lipogenesis - decline in insulin secretion
These factors save some blood sugar for supply to
the extrahepatic tissue.
14.
Changes in fat metabolism
During starvation enhanced secretions of glucocorticoids,
glucagon, and adrenaline
hormone sensitive lipase of the adipose tissue
mobilize large amounts of fatty acids from adipose tissue
to the liver for oxidation.
15. Ketosis results enhanced beta oxidation and a failure to oxidize the acetyl
CoA
Fatty acid synthesis is reduced
elevated plasma levels of long chain fatty acids inhibit acetyl CoA
carboxylase
Reduce the outflow of mitochondrial citrate for cytoplasmic Lipogenesis
while the decline in insulin secretion prevents the induction of NADPH
generating malic enzyme and glucose 6 phosphate dehydrogenase
16. Lipoprotein lipase activity declines in the adipose tissue, but
rises in cardiac and skeletal muscles.
Muscles start using fatty acids as their principal energy
source
has no stored glycogen so it uses significant amounts of
ketone bodies from about the 5th day of starvation
Starvation ketosis is more pronounced in females than in
males, and in children than in adults.
Ketosis and ketonuria produce acidosis and enhance urinary
ammonia pulmonary ventilation and CO2 elimination.
17.
Changes in protein metabolism
Negative N balance results from increased protein
catabolism for gluconeogesis and energy production
Breakdown tissue proteins lowers the body protein
by more than 25% and the resulting decrease in the
cell mass reduces the intracellular fluid volume
Intestine, liver, spleen, heart and muscles atrophy
considerably due to protein catabolism
18. . Intestinal atrophy severely restricts digestion and
absorption
Atrophic changes of the heart lower the cardiac output to
produce hypertension and circulatory failure.
Increased protein catabolism lowers the secretion of insulin,
thyroxin and gonadotropins, and causes failures of
reproduction and lactation.
Urinary NPN and urea are reduced while neutral sulfur and
uric acid are increased in urine
19.
Changes in water and mineral
metabolisms
On prolonged starvation, extensive cellular distengration
lowers the intracellular K+,total body K+ and the
intracellular fluid volume.
Extracellular fluid (ECF) is reduced in the first few days due
to increased water loss,
Low serum albumin contributes to the production of edema
Glomerular filtration is reduced and metabolic water is
elevated
20. prevention consists of ensuring they eat plenty of food,
varied enough to provide a nutritionally complete diet
The Rome Declaration on World Food Security outlines
several policies aimed at increasing food security and,
consequently, preventing starvation.
Poverty reduction
Prevention of wars and political instability
Food aid
Agricultural sustainability
Reduction of economic inequality
Prevention
21.
Rest and warmth must be provided and maintained
Small sips of water mixed with glucose should be given in
regular intervals
Fruit juices can also be given.
food can be given gradually in small quantities
Proteins may be administered intravenously to raise the
level of serum proteins
Treatment
22.
K Vijayakumaran Nair Andp I Paul, Functional
Zoology, Acadamica, Jawahar Nagar,
Thiruvananthapuram
Patrica Truman, Nutritional Biochemistry.M,i.J
Publishers, Chennai.
Debajyothi Das, Biochemistry, 13th Edition.
B Sreelakshmi Dietetics, 7th Edition, New Age
International Publishers
Reference