G6PDD is an inherited genetic disorder in the red blood cell enzyme known as G6PD. The effects of this disease are preventable by avoiding the triggers.
Discussion regarding Glucose 6 phosphate dehydrogenase deficiency and the genetics involved in inheritance of disease. The possible treatment options and mutations identified so far has also been discussed.
UAEU - CMHS - Hematology-Oncology Course - MMH 302 - HONC 320. Education material for medical students - It cover basic principles of hematology and oncology, including CAR-T and gene editing. It can be used for study and review. It illustrates main principles of hematology and oncology.
G6PDD is an inherited genetic disorder in the red blood cell enzyme known as G6PD. The effects of this disease are preventable by avoiding the triggers.
Discussion regarding Glucose 6 phosphate dehydrogenase deficiency and the genetics involved in inheritance of disease. The possible treatment options and mutations identified so far has also been discussed.
UAEU - CMHS - Hematology-Oncology Course - MMH 302 - HONC 320. Education material for medical students - It cover basic principles of hematology and oncology, including CAR-T and gene editing. It can be used for study and review. It illustrates main principles of hematology and oncology.
Information about megaloblastic anemia and it's etiology and its classification.
Vitmain b12 deficiencies
Folic acid deficiencies
Signs and symptoms of megaloblastic anemia
Neural tube defects
A presentation made about Sickle cell disease by Yara Mostafa, Yasser Osama, Yaser Mostafa ,Ain shams university, Medicine faculty, first year students.
Information about megaloblastic anemia and it's etiology and its classification.
Vitmain b12 deficiencies
Folic acid deficiencies
Signs and symptoms of megaloblastic anemia
Neural tube defects
A presentation made about Sickle cell disease by Yara Mostafa, Yasser Osama, Yaser Mostafa ,Ain shams university, Medicine faculty, first year students.
Testing in a Continuous Delivery Pipeline - Better, Faster, CheaperGene Gotimer
The continuous delivery pipeline is the process of taking new or changed features from developers, and getting features deployed into production and delivered quickly to the customer. Gene Gotimer says testing within continuous delivery pipelines should be designed so the earliest tests are the quickest and easiest to run, giving developers the fastest feedback. Successive rounds of testing lead to increased confidence that the code is a viable candidate for production and that more expensive tests—time, effort, cost—are justified. Manual testing is performed toward the end of the pipeline, leaving computers to do as much work as possible before people get involved. Although it is tempting to arrange the delivery pipeline in phases (e.g., functional tests, then acceptance tests, then load and performance tests, then security tests), this can lead to serious problems progressing far down the pipeline before they are caught. Gene shows how to arrange your tests so each round provides just enough testing to give you confidence that the next set of tests is worth the investment. He explores how to get the right types of testing into your pipeline at the right points.
This PPT contains HMP Shunt, Reactions of the pathway i.e. Oxidative & Non-oxidative. Glucose-6-Phosphate dehydrogenase (G6PD) deficiency, Regulation of Pathway, Significance of HMP shunt
(May 29th, 2024) Advancements in Intravital Microscopy- Insights for Preclini...Scintica Instrumentation
Intravital microscopy (IVM) is a powerful tool utilized to study cellular behavior over time and space in vivo. Much of our understanding of cell biology has been accomplished using various in vitro and ex vivo methods; however, these studies do not necessarily reflect the natural dynamics of biological processes. Unlike traditional cell culture or fixed tissue imaging, IVM allows for the ultra-fast high-resolution imaging of cellular processes over time and space and were studied in its natural environment. Real-time visualization of biological processes in the context of an intact organism helps maintain physiological relevance and provide insights into the progression of disease, response to treatments or developmental processes.
In this webinar we give an overview of advanced applications of the IVM system in preclinical research. IVIM technology is a provider of all-in-one intravital microscopy systems and solutions optimized for in vivo imaging of live animal models at sub-micron resolution. The system’s unique features and user-friendly software enables researchers to probe fast dynamic biological processes such as immune cell tracking, cell-cell interaction as well as vascularization and tumor metastasis with exceptional detail. This webinar will also give an overview of IVM being utilized in drug development, offering a view into the intricate interaction between drugs/nanoparticles and tissues in vivo and allows for the evaluation of therapeutic intervention in a variety of tissues and organs. This interdisciplinary collaboration continues to drive the advancements of novel therapeutic strategies.
Richard's aventures in two entangled wonderlandsRichard 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.
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.
Introduction:
RNA interference (RNAi) or Post-Transcriptional Gene Silencing (PTGS) is an important biological process for modulating eukaryotic gene expression.
It is highly conserved process of posttranscriptional gene silencing by which double stranded RNA (dsRNA) causes sequence-specific degradation of mRNA sequences.
dsRNA-induced gene silencing (RNAi) is reported in a wide range of eukaryotes ranging from worms, insects, mammals and plants.
This process mediates resistance to both endogenous parasitic and exogenous pathogenic nucleic acids, and regulates the expression of protein-coding genes.
What are small ncRNAs?
micro RNA (miRNA)
short interfering RNA (siRNA)
Properties of small non-coding RNA:
Involved in silencing mRNA transcripts.
Called “small” because they are usually only about 21-24 nucleotides long.
Synthesized by first cutting up longer precursor sequences (like the 61nt one that Lee discovered).
Silence an mRNA by base pairing with some sequence on the mRNA.
Discovery of siRNA?
The first small RNA:
In 1993 Rosalind Lee (Victor Ambros lab) was studying a non- coding gene in C. elegans, lin-4, that was involved in silencing of another gene, lin-14, at the appropriate time in the
development of the worm C. elegans.
Two small transcripts of lin-4 (22nt and 61nt) were found to be complementary to a sequence in the 3' UTR of lin-14.
Because lin-4 encoded no protein, she deduced that it must be these transcripts that are causing the silencing by RNA-RNA interactions.
Types of RNAi ( non coding RNA)
MiRNA
Length (23-25 nt)
Trans acting
Binds with target MRNA in mismatch
Translation inhibition
Si RNA
Length 21 nt.
Cis acting
Bind with target Mrna in perfect complementary sequence
Piwi-RNA
Length ; 25 to 36 nt.
Expressed in Germ Cells
Regulates trnasposomes activity
MECHANISM OF RNAI:
First the double-stranded RNA teams up with a protein complex named Dicer, which cuts the long RNA into short pieces.
Then another protein complex called RISC (RNA-induced silencing complex) discards one of the two RNA strands.
The RISC-docked, single-stranded RNA then pairs with the homologous mRNA and destroys it.
THE RISC COMPLEX:
RISC is large(>500kD) RNA multi- protein Binding complex which triggers MRNA degradation in response to MRNA
Unwinding of double stranded Si RNA by ATP independent Helicase
Active component of RISC is Ago proteins( ENDONUCLEASE) which cleave target MRNA.
DICER: endonuclease (RNase Family III)
Argonaute: Central Component of the RNA-Induced Silencing Complex (RISC)
One strand of the dsRNA produced by Dicer is retained in the RISC complex in association with Argonaute
ARGONAUTE PROTEIN :
1.PAZ(PIWI/Argonaute/ Zwille)- Recognition of target MRNA
2.PIWI (p-element induced wimpy Testis)- breaks Phosphodiester bond of mRNA.)RNAse H activity.
MiRNA:
The Double-stranded RNAs are naturally produced in eukaryotic cells during development, and they have a key role in regulating gene expression .
This pdf is about the Schizophrenia.
For more details visit on YouTube; @SELF-EXPLANATORY;
https://www.youtube.com/channel/UCAiarMZDNhe1A3Rnpr_WkzA/videos
Thanks...!
2. Outline
• Introduction
• Definition
• History
• Principle
• Genetics
• Physiology & Pathophysiolgy
• Causes
• Sign and symptoms
• Diagnostic test (DX)
• Treatment (RX)
3. Introduction
• Most common human enzyme defect
• Present in more than 400 million people
world wide
• Distribution similar to malaria
• X-linked, hereditary genetic defect due to
mutations in the G6PD gene
• More than 140 mutations of the G6PD gene
have been identified.
4. Definition
• It is an inherited disease characterized by
hemolytic anemia caused by inability to
detoxify oxidized agents.
• ‘‘G6PD deficiency is an inherited condition in
which the enzyme doesn’t have enough
activity to detoxify (ROS) Reactive oxygen
species especially in RBCs.
5. History
• In 1931 German Biochemist Warburg and
Christian discovered G6PD
• They isolated G6PD enzyme from brewers
yeast
• His deficiency was first reported in 1956 by
Alving at al.
6. Principle
• Glucose 6 phosphate Dehydrogenase (G6PD)
that catalyze the first reaction PPP which
converts Glucose-6p to 6phosphogluconate
and reduces NADP to NADPH.This reaction is
feedback inhibited by NADPH.
7. Genetics:
• The gene that Encode the
G6PD is located on the distal
long arm of the X chromosome
at the Xq28 locus.
• The G6PD gene is 18 kb long
with 13 exons and the G6PD
enzyme has 515 amino acids.
• Most are single-base changes
that result in an amino acid
substitution.
8. Gene variants
• G6PD variants are caused by point mutation in
the G6PD gene.
• Some of their point mutation do not disturb
active site of the enzyme but may or may not
reduce the active site activity of enzyme
• Three possible result of mutation
• Altered catalytic activity
• Decrease stability
• Or alteration in binding affinity for NADP+
9. MODE OF INHERITANCE
MALES have one X chromosomes
so, they will be disease if
they have the affected gene (XY)
FEMALES have 2X chromosomes
May be homozygous or
heterozygous
HOMOZYGOUS: are
disease (XX)
HETEROZYGOUS: are
not disease but: carriers (and
transfer the disease to their
sons)
10. Physiology (Normal functioning)
Glucose 6 phosphate dehydrogenase use NADP as cofactor and convert into NADPH .Oxidized form of glutathione
(GSSH) converted into reduce form of (2GSH) .Glutathione perioxidase catalyze (GSH) into (GSSH) and convert ROS
into water as shown above in diagram.
11. Pathophysiology (Abnormal functioning)
G6PD DEFICIENCY not enough NADPHS are produced so erythrocytes cannot detoxify h2o2 in sufficient quantity hence cell is
deformed due to heinz body formation .
12. Hemolytic anemia
• Anemia develops when
the spleen traps and
destroys red blood cells.
• An anemic response can
occur when G6PD
deficient individual
takes oxidative drugs or
fava beans.
• How it happen look
right side of this slide
In persons, with G6PD deficiency,
oxidative stresses can denature
haemoglobin and cause starts
deposition in RBC
Denatured haemoglobin can be
visualized as Heinz bodies
13. Favism
• Favism usually result of
ingestion of fresh uncooked
fava beans although it can
occur with dried cooked
canned or frozen beans.
• Acute intravassuclar
hemolysis develop within 5-
24 hours after ingestion.
• Fall in hemoglobin is fatal in
severe and acute condition
if blood transfusion is not
performed.
• Vicine is an
alkaloid glycoside found
in fava beans.Vicine is
toxic,oxidant and causing
the disease favism, in
individuals who have a
hereditary loss of
the enzyme glucose-6-
phosphate dehydrogenase
14. Why Erthyrocytes are only affected
• Other cells are also G6PD Deficient
• Malate Dehydrogenase (NADP+) (EC 1.1.1.82)
they have another source of NADPH production
• Superoxide Dismutase (SOD, EC 1.15.1.1)
superoxide (O2
−) radical into either ordinary
molecular oxygen (O2) or Hydrogen peroxide (H2O2)
• Catalase (EC 1.11.1.6) It catalyzes the
Decomposition of hydrogen peroxide
to water and oxygen 2 H2O2 → 2 H2O + O2
15. Causes
• RBCs destruction can be triggered by infections,
certain foods(such as fava beans) and certain
drugs, including:
• Genetic abnormality
• Antimalarial drugs
• Aspirin
• Nitrofuranton
• NSAIDs
• Quinine
• Sulfa drugs
16. Diagnostic tests
• A blood test can be done to check the level of
G6PD
• Others tests maybe done include:
• Bilirubin level
• Complete blood count, including RBCs count
• Haemoglobin – blood
• Haemoglobin – urine
• LDH test
17. Sign and symptoms
• People with this condition do not display any sign of
the disease until their RBCs are exposed to certain
chemicals in food or medicine or stress.
symptoms are more common in men and may include:
• Dark urine
• Enlarged spleen
• Fatigue
• Rapid heart rate
• Shortness of breath
• Palpitations
18. Treatment
• Blood transfusion
• Uses of antioxidant
• Vitamin E and selenium used as antioxidant drugs
• Splenectomy
• Prevention of haemolysis by prompt treatment
infection.
• Avoidance of oxidant drugs and toxin:
• Sulfonamide (drugs)
• Naphthalene (toxin)
• Genetic modified fava beans can be used .