Genetic,Immunological,Enviro Mental,Climatic Factors in Disease

8/14/2019 Genetic,Immunological,Enviro Mental,Climatic Factors in Disease

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Genetic,Immunological,Enviromental,Climatic factors in

Disease

Dr Anil Sabharwal

MBBS,MD(Med)Consultant Physician & Cardiologist


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What is Health?

Health is a state ofHealth is a state of

physical , mental &physical , mental &social well being , notsocial well being , not

merely absence ofmerely absence ofdiseases.diseases.


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Ways of healthy livingWays of healthy living

Nutritious, adequate & balanced food.Nutritious, adequate & balanced food.

Regular exercise & Physical activity.Regular exercise & Physical activity.

Adequate rest & sleep.Adequate rest & sleep.

Living in healthy & pollution freeLiving in healthy & pollution freeenvironment.environment.

Avoid tobacco,alcohol & other abuse.Avoid tobacco,alcohol & other abuse.

Weight in healthy rangeWeight in healthy range


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Smoking


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Obesity

Obesity is increasing

Overweight is linked

with:


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Benefits of exercise


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Preventing Cancer


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Disease( dis +ease)Disease( dis +ease)

Unhealthy living is root cause ofUnhealthy living is root cause of

all preventable diseases. It causesall preventable diseases. It causes

personal suffering & causespersonal suffering & causesfinancial stress on the family &financial stress on the family &

society as a whole.society as a whole.


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Unhealthy living

Improper food i.e. Inadequate or excessImproper food i.e. Inadequate or excess

food, Imbalance food( e.g. Fast food)food, Imbalance food( e.g. Fast food)

taken at odd hours .taken at odd hours .

Sedentary life.Sedentary life. Hectic ,stressful life with odd duty hoursHectic ,stressful life with odd duty hours

(e.g.. work at call centers).(e.g.. work at call centers).

Drinking dirty water or infected or staleDrinking dirty water or infected or stalefoodfood

Alcohol, tobacco & drug abuseAlcohol, tobacco & drug abuse


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Unhealthy livingUnhealthy living

Smoking,tobacco,Gutka abuse.

Alcohol & Drug abuse.

Living in dark ,dingy, congested place

away from sunlight & environment full ofsmoke & fumes.

Not keeping good personal hygiene &

keeping the surroundings dirty. (Dengue)


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Stress, Anxiety,Depression


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Why talk about healthyWhy talk about healthy

livingliving

Health promotion is every onesHealth promotion is every ones

concernconcern

&&Prevention is better than curePrevention is better than cure


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Genetics

Living being have a unique feature ofReproduction i.e. they give birth to theiroffspring who resemble their parents in

many ways and differ in certaincharacters.

Dog give birth to pups not kittens & alsoeach pup resembles its parents in certainrespects & is different from its parents incertain respects.

G i i


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Genetic Factors inGenetic Factors in

disease:disease:Genetics is science of heredity & Variation.

It also tells us about how certain diseasesare transmitted from one generation to

another.


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Genetic Factors in disease:

Chromosomes: are vehicles in which genes are carried

from generation to generation. Each chromosome is a

complex of protein & nucleic acids in which unbroken

double helix of DNA is coiled.

No. of chromosomes in somatic cells: 23 pairs(22 pairs

autosomes,1pair of Sex chromosomes).


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Genetics

Number of chromosomes in ovum :

22 autosomes & X chromosome.

Number of chromosomes in Sperm:Sperm: 22 autosomes & X or Y chromosomes

Number of chromosomes in fertilized egg:

22 pairs of autosomes & XX orXY


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Genetics

In this way fertilized egg gets characters

from both parents (mother & father)

through autosomes & sex chromosomes.

In a similar way any familial disease is

also transmitted from one generation to

another.


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Autosomal Abnormalities:

1 in every 200 live born baby has a gross

abnormality of chromosome number or

structure.

Down syndrome (Trisomy 21,total 47

chromosomes). Incidence 1 in 700 live

birth.Mentally retarded, flat face wide

spaced upward slanting eyes.


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Autosomal abnormalities

Philadelphia chromosome(Ph1) is an

acquired chromosomal abnormality

associated with Chronic Myeloid

Leukemia- Long arm of chromosome 22 isTran located to another chromosome

usually 9


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Sex Chromosome Abnormalities

Klinefelters Syndrome (47, XXY): Theyhave eunuchoid body proportion, sterility,hypogonadism, gynecomastia, mental

retardation Turners syndrome(45,XO) :They have

short stature, primary amenorrhea, lack ofsecondary sexual character, webbing ofneck, low IQ


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Genetic Factors in disease:

Genes : are functional units of genetic

characters located on chromosomes.

There are 50000-1 lac genes present on

chromosomes, currently >6000 genes

have been identified..


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Genetics

Some times certain characters or diseases

which are not present in the family are

manifested in the offsprings.

This occurs through Mutation.Mutation.


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Genetics-Mutation

Mutation: spontaneous alteration in the nucleotide

sequence leading to sudden heritable changes.

Mutation may be spontaneous or induced by

environmental factors like: radiation, medication,

viral infection.

Advance Maternal & paternal age favors mutation.


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Genetics

Autosomal Dominant

Autosomal Recessive

Sex linked dominant Sex linked Recessive


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Genetics

Autosomal dominant:

Myotonic dystrophy

Huntingtons diseaseAchondroplasia

Osteogenesis imperfecta


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Genetic

Autosomal Recessive:

Albinism

Crigler-Najjar syndrome Friedreich ataxia

Hepatolenticular degeneration


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Genetics

Sex linked Recessive:

Duchnne muscular dystrophy

G6PD deficiency

Hunters syndrome

Haemophilia


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Disorder of multi factorial Causation

Cleft lip

Pyloric stenosis

Sina bifida

CAD

Type 2 Diabetes


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Genetics

There is no effective treatment for most

genetic disorders.

Aim is prevention of geneticdisorders through genetic

councilling


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Conclusion

Healthy living prevents many diseases

Consanguineous marriages increase

incidence of genetic disorders.

Older parents have more chances of their

children to be genetically abnormal

Radiation,Medication,viral infection make

one prone to mutation hence genetic

abnormality.


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Environmental Factors:Cold

Cold urticaria

Ranauds phenomenon

Hypothermia

Chilblain

Frostbite


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Heat

Heat syncope

Heat cramps

Heat exhaustion

Heat stroke


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High altitudes>2000 meters

Mountain sickness-lack of acclimatization &hypoxia

Acute mountain sickness

Head ache Lassitude

Drowsiness

Dizziness,nausea,vomiting Dyspnoea


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Pneumoconiosis

Pneumoconiosis or coal miner lung

Silicosis

Asbestosis

Genetic,Immunological,Enviro Mental,Climatic Factors in Disease

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