Epidemiological and genetic theories of schizophrenia.
Who global burden o disease
family studies, twin and molecular studies. kretschmer body build theory and risk of schizophrenia
Genetic factors in pathogen colonisation is emerging as a new field of research as " infectogenomics". The susceptible host to periodontal disease directs towards genetic factors playing a role in periodontal disease pathogenesis. Earlier identification of gene polymorphisms associated with periodontal disease preogression may help in early diagnosis, treatment of such susceptible host.
Metyrosine in Adolescent Psychosis Associated with 22q11.2 Deletion SyndromeCarlo Carandang
"Metyrosine in Adolescent Psychosis Associated with 22q11.2 Deletion Syndrome,"
Halifax, Nova Scotia, Canada; June 7, 2006
Dalhousie University, Department of Psychiatry, Clinical Conference
*Learn clinical features of velocardiofacial syndrome (VCFS)
*Learn association of psychosis with VCFS
*Learn genetic and biochemical abnormalities leading to psychosis in VCFS
*Discuss case report of metyrosine in psychosis associated with VCFS
*What can we learn from the association between VCFS and schizophrenia to design candidate gene studies for polygenic syndromes?
This ppt is prepared by Sandeep Kumar Maurya , m. pharma ,department of pharmaceutical sciences, dr. harisingh gour university sagar madhya pradesh.
This SlideShare covers some of genetic disorders , molecular pathology, single gene disorder type of single gene disorder and advanced level cancer , mechanism of cancer, model for cancer induction explanation.
1. Introduction of genetic disorder
2. Common genetic disorders
3. Causes of genetic disorders
4. Symptoms of genetic disorders
5. single gene disorder
6. Cancer.
8. References.
Genetic disorders occur when a mutation (a harmful change to a gene, also known as a pathogenic variant) affects your genes or when you have the wrong amount of genetic material. Genes are made of DNA (deoxyribonucleic acid), which contain instructions for cell functioning and the characteristics that make you unique.
You receive half your genes from each biological parent and may inherit a gene mutation from one parent or both. Sometimes genes change due to issues within the DNA (mutations). This can raise your risk of having a genetic disorder. Some cause symptoms at birth, while others develop over time.`
Introduction of Cancer
Cancer is caused by the failure of genetic mechanisms that control the growth and proliferation of cells. In most cases, cumulative damage to multiple genes (the "multi-hit" model) via physical and chemical agents, replication errors, etc. contribute to oncogenesis. However, a person's inherited genetic background also may strongly contribute. In cancer, a single transformed cell grows to become a primary tumor, accumulates more mutations and becomes more aggressive, then metastasizes to another tissue and forms a secondary tumor. The difference between a benign tumor and a malignant one mostly involves the latter's ability to invade and metastasize to other tissues. Tumors are classified according to the embryonic origin of the tissue from which they originate. The term carcinoma is used to denote cancers of endodermal (e.g., gut epithelia cancers) or ectodermal (e.g., skin, neural epithelia) origin. Cancers of mesodermal origin (e.g., muscle, blood cells) are called sarcomas. Carcinomas make up >90% of malignant tumors.
The modern scientific era begins with the work of Austrian monk, Gregor Mendel, who in 1865 presented the results of his breeding experiments on contrasting characters in garden peas
Mendel's laws of inheritance
Dominant inheritance
Dominant mutations are expressed when only one copy of that mutation is present. Therefore, anyone who inherits one dominant disease mutation such as the mutation for Huntington’s disease will have that disease.
Dominantly inherited genetic diseases tend to occur in every generation of a family. Each affected person usually has one affected parent.
However, dominant mutations can also happen in an individual for the first time, with no family history of the condition (spontaneous mutation).
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Genetic factors in pathogen colonisation is emerging as a new field of research as " infectogenomics". The susceptible host to periodontal disease directs towards genetic factors playing a role in periodontal disease pathogenesis. Earlier identification of gene polymorphisms associated with periodontal disease preogression may help in early diagnosis, treatment of such susceptible host.
Metyrosine in Adolescent Psychosis Associated with 22q11.2 Deletion SyndromeCarlo Carandang
"Metyrosine in Adolescent Psychosis Associated with 22q11.2 Deletion Syndrome,"
Halifax, Nova Scotia, Canada; June 7, 2006
Dalhousie University, Department of Psychiatry, Clinical Conference
*Learn clinical features of velocardiofacial syndrome (VCFS)
*Learn association of psychosis with VCFS
*Learn genetic and biochemical abnormalities leading to psychosis in VCFS
*Discuss case report of metyrosine in psychosis associated with VCFS
*What can we learn from the association between VCFS and schizophrenia to design candidate gene studies for polygenic syndromes?
This ppt is prepared by Sandeep Kumar Maurya , m. pharma ,department of pharmaceutical sciences, dr. harisingh gour university sagar madhya pradesh.
This SlideShare covers some of genetic disorders , molecular pathology, single gene disorder type of single gene disorder and advanced level cancer , mechanism of cancer, model for cancer induction explanation.
1. Introduction of genetic disorder
2. Common genetic disorders
3. Causes of genetic disorders
4. Symptoms of genetic disorders
5. single gene disorder
6. Cancer.
8. References.
Genetic disorders occur when a mutation (a harmful change to a gene, also known as a pathogenic variant) affects your genes or when you have the wrong amount of genetic material. Genes are made of DNA (deoxyribonucleic acid), which contain instructions for cell functioning and the characteristics that make you unique.
You receive half your genes from each biological parent and may inherit a gene mutation from one parent or both. Sometimes genes change due to issues within the DNA (mutations). This can raise your risk of having a genetic disorder. Some cause symptoms at birth, while others develop over time.`
Introduction of Cancer
Cancer is caused by the failure of genetic mechanisms that control the growth and proliferation of cells. In most cases, cumulative damage to multiple genes (the "multi-hit" model) via physical and chemical agents, replication errors, etc. contribute to oncogenesis. However, a person's inherited genetic background also may strongly contribute. In cancer, a single transformed cell grows to become a primary tumor, accumulates more mutations and becomes more aggressive, then metastasizes to another tissue and forms a secondary tumor. The difference between a benign tumor and a malignant one mostly involves the latter's ability to invade and metastasize to other tissues. Tumors are classified according to the embryonic origin of the tissue from which they originate. The term carcinoma is used to denote cancers of endodermal (e.g., gut epithelia cancers) or ectodermal (e.g., skin, neural epithelia) origin. Cancers of mesodermal origin (e.g., muscle, blood cells) are called sarcomas. Carcinomas make up >90% of malignant tumors.
The modern scientific era begins with the work of Austrian monk, Gregor Mendel, who in 1865 presented the results of his breeding experiments on contrasting characters in garden peas
Mendel's laws of inheritance
Dominant inheritance
Dominant mutations are expressed when only one copy of that mutation is present. Therefore, anyone who inherits one dominant disease mutation such as the mutation for Huntington’s disease will have that disease.
Dominantly inherited genetic diseases tend to occur in every generation of a family. Each affected person usually has one affected parent.
However, dominant mutations can also happen in an individual for the first time, with no family history of the condition (spontaneous mutation).
HOT NEW PRODUCT! BIG SALES FAST SHIPPING NOW FROM CHINA!! EU KU DB BK substit...GL Anaacs
Contact us if you are interested:
Email / Skype : kefaya1771@gmail.com
Threema: PXHY5PDH
New BATCH Ku !!! MUCH IN DEMAND FAST SALE EVERY BATCH HAPPY GOOD EFFECT BIG BATCH !
Contact me on Threema or skype to start big business!!
Hot-sale products:
NEW HOT EUTYLONE WHITE CRYSTAL!!
5cl-adba precursor (semi finished )
5cl-adba raw materials
ADBB precursor (semi finished )
ADBB raw materials
APVP powder
5fadb/4f-adb
Jwh018 / Jwh210
Eutylone crystal
Protonitazene (hydrochloride) CAS: 119276-01-6
Flubrotizolam CAS: 57801-95-3
Metonitazene CAS: 14680-51-4
Payment terms: Western Union,MoneyGram,Bitcoin or USDT.
Deliver Time: Usually 7-15days
Shipping method: FedEx, TNT, DHL,UPS etc.Our deliveries are 100% safe, fast, reliable and discreet.
Samples will be sent for your evaluation!If you are interested in, please contact me, let's talk details.
We specializes in exporting high quality Research chemical, medical intermediate, Pharmaceutical chemicals and so on. Products are exported to USA, Canada, France, Korea, Japan,Russia, Southeast Asia and other countries.
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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
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3. What is epidemiology
Schizophrenia – low incidence, high prevalence.
0.16 – 1 / 1000 population – incicendence
Prevalence – 1% in general population
BUT : incidence – higher in – developed nations than
developing.
reason – migration from developing to developed.
4. low
Annual incidence - 0.16 to 1.0 / 1000
Mcgrath et al (2008) & kirkbride (2012) - showed a skew in
incidence. More in specific population group.(Migrant).
This finding contradicts JABLENSKY et al 1992 conclusion
from WHO ten country study -- INCIDENCE & PREVALENCE
are similar in all population group.
Current meta-analysis (Mcgrath et al) - incidence is higher in
developed nation than developing.
5. High, very low complete recovery.
1% in general population
Lifetime prevalence (simeone et al 2015) 5/1000 population.
6. All life stages. Childhood - old age.
Common between 15years - 54years. less likely < 5years
Early onset in males, late onset in females (Oestrogen
protective effect)
2 peaks : 20years and 33years
Median age of onset. 28years - male; female 32years
Male : Female - 1.4 : 1
7. Fertility – Decreased – both gender.
Reason – difficulty initiating, maintaining intimate
relationship. Why? – deficit theory of mind– makes reciprocal
social interaction and communication difficult.
2. social isolation, instituitionalization.
3. hyper-prolactinemia due to antipsychotics esp atypicals
and haloperidol
Erectile and sexual dysfunction.--- antipsychotics.
8. DEVELOPING VS DEVELOPED CULTURE
Cultural diff in aetiology
Cultural diff in outcome
Aetiology – developing nation – infectious dx/ nutritional
disorder inclination
Developed nation – aetiology – unknown
9. 2 WHO studies.
A. IPSS – (Nigeria Colombia india) studied developing nations .
Compared to developed nation, Esp- Europe.
Result – Developing nations – better outcome > developed
nations.
CRITICS : - developed nation had facilities so might have over-
captured chronic cases.
While developing nations captured acute cases since they
wouldn’t have admitted lots of chronic cases.
10. So; Anoda study done – WHO ten country study.
Confounding factors – eliminated. : BY
1. They capture only first episode
2. cases didn’t met diagnostic criteria, excluded.
E.g first episode < 1month, substance use, comorbid physical
illness.
All captured ptx (developing and developed) – followed up.
11. RESULT – Developing – better outcome > developed
countries.
Observed factors responsible for this better outcome in
developing nations/culture.
1. being married/cohabiting with a partner
2. access to supportive network esp friends and
extended/compound family type.
3. kinship relationship. Etc
12. Observed negative factor across all cultures – EE.
Yet this is more pervasive in developed cultures esp western
world.
13. 1990 WHO – GBD study – DALY = disability-adjusted life
year.
1 DALY = 1yr of health lost due to a disease in a population
from 1. disability 2. mortality 3. handicapping. Caused by the
disease.
GBD shows – Schiz has the 3rd highest DALY.
Comorbidities – Communicable and Non communicable
14. Communicable – HIV, TB, Hb
Non communicable – CVD, diabetes, metabolic syndrome,
Depression and suicide.
Mortality – currently due to – CVD – Suicide – Accident.
16. Rudin (kraepelins student) - first significant family
study.
Dementia praecox more common in relatives of
probands.
Recent study (Gottesman et al 1991): metanalysis of
diff family study. Concluded - symptoms present in
different levels/class of relatives of probands.
17.
18. Observed familiar distributuin of schizophrenia + disorder
with schizophrenial-like psychosis among diff classes of
relatives.
This reinforces the idea - Schizophrenia spectrum disorder.
19. First significant study - 1920s by LUXENBERGER.
Findings: MZ > DZ concordance.
inkeepin with Gottesman 40-50% heritability
MZ/DZ co-twin with no expression. Show the expression in
their offsping. Confirming heritability.
Inaddition the risk of schizophrenia is shared equally among
these offspring
non expression in the co-twin may be related to
environmental factors.
20. Heston 1966; followed up 47 babies born to parent(s) with
schizophrenia and separated from them at 3rd day of life. to
a different family with no family history of schizophrenia.
Findings, at 36years of age- about 10% developed
schizophrenia.
Peterson & sorenson 2011 published findings from Danish
study of 1960.
Adoptees with schizophrenia and control were studied for
schizophrenia in biological parents. Result were consistent
with 1966 Heston study.
21. Currently no particular gene has been directly link to causing
schizophrenia
But evidence suggest multiple genes(hundreds-thousands)
with small effects.
3 types of genetic variations now applicable to schizophrenia :
Single nucleotide polymorphism
Copy Number variants
Rare Variants
22. Responsible for many of the gentic risk for schizophrenia
Currently 108 genetic loci identified to be of signicficant
causal relation to schizophrenia.(2014 psychiatry genomic
consortium).
these SNPs involve genes coding for Dopamine D2,
glutamate receptors and Serotonine transporter.
23. Are either deletion or duplication of part of chromosomes of genetic
material of at least 1kb in size.
1st CNV deletion found – Chr 22q11.2 1976 == velocardioacial
syndrome, digeorge and sphintzen syndrome.
Currently – 12 CNV identified.
Compared to SNPs, CNVs carry more risk significance if present.
NB:: CNV PENETRANCE???
24.
25. About 1/2 of CNV associated schizophrenia are inherited.
Others are acquired de novo e.g in life. i.e parents of such
schizophrenia had no CNVs.
This usually due to sporadic mutation.And such individal illness has
not been inherited.
However development of his CNV/schizophrenia increases
heritability by offspring by 50%.
NB: presence of CNVs for schizophrenia increases the risk for other
illness with psychosis.But with an exception Bipolar disorder.
26. These are SNPs or dinucleotide polymorphism in
individual genes.
There presence confers greater risk.
Identified till date is SETD1A mutation
27. Disrupted in schizophrenia 1 gene DISC-1 :
Translocation between chromosomes 1 and 11.
Dystrobrevin binding protein-1 Dysbindin P-1.
Neuregulin gene
Regulator of G-protein signaling-4
28. Study how these SNPs, CNVs and Rare variants
affect the brain neurochemistry and structure, to
ultimately culminate in the development of
schizophrenia.
1.Affectation of NMDA receptor mediated signalling,
synaptic plasticity, immune functioning.
29. The NMDA abnormality linked to dysregulation of
immune fuctioning. Evidence for this - mutation in
major histocompatibity complex on chr-6. lead to
autoimmune disorders and wide spread inflammation
observerd in some schiozphrenia.
2.CNVs deletion - reduced/impaired expression of the
affected gene. WHILE;
Duplication - Over/Excessive expression
30. Schizophrenia; epidemiologially is a chronic disorder
evidence by high prevalence, caused by reduce
likelihood of complete recovery.
Highly familiar, though no specific gene has been
directly linked as the sole aetiology.
Multiple genes of small effect but with greater
summating effects.