Genetic,Immunological,Enviro

mental,Climatic factors in
Disease

Dr Anil Sabharwal
MBBS,MD(Med)
Consultant Physician & Cardiologist
 What is Health?

Health is a state of
physical , mental &
social well being , not
merely absence of
diseases.
 Ways of healthy living
• Nutritious, adequate & balanced food.
• Regular exercise & Physical activity.
• Adequate rest & sleep.
• Living in healthy & pollution free
environment.
• Avoid tobacco,alcohol & other abuse.
• Weight in healthy range
Smoking
 Obesity
• Obesity is increasing
• Overweight is linked
with:
Benefits of exercise
Preventing Cancer
 Disease( dis +ease)
Unhealthy living is root cause of
all preventable diseases. It causes
personal suffering & causes
financial stress on the family &
society as a whole.
 Unhealthy living
• Improper food i.e. Inadequate or excess
food, Imbalance food( e.g. Fast food)
taken at odd hours .
• Sedentary life.
• Hectic ,stressful life with odd duty hours
(e.g.. work at call centers).
• Drinking dirty water or infected or stale
food
• Alcohol, tobacco & drug abuse
 Unhealthy living
• Smoking,tobacco,Gutka abuse.
• Alcohol & Drug abuse.
• Living in dark ,dingy, congested place
away from sunlight & environment full of
smoke & fumes.
• Not keeping good personal hygiene &
keeping the surroundings dirty. (Dengue)
Stress, Anxiety,Depression
 Why talk about healthy
living
Health promotion is every one’s
concern
&
Prevention is better than cure
 Genetics
• Living being have a unique feature of
Reproduction i.e. they give birth to their
offspring who resemble their parents in
many ways and differ in certain
characters.
• Dog give birth to pups not kittens & also
each pup resembles it’s parents in certain
respects & is different from its parents in
certain respects.
 Genetic Factors in
disease:
Genetics is science of heredity & Variation.

It also tells us about how certain diseases

are transmitted from one generation to
another.
 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).
 Genetics
• Number of chromosomes in ovum :
22 autosomes & X chromosome.
• Number of chromosomes in Sperm:
22 autosomes & X or Y chromosomes
• Number of chromosomes in fertilized egg:
22 pairs of autosomes & XX or XY
 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.
 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.
 Autosomal abnormalities
• Philadelphia chromosome(Ph1) is an
acquired chromosomal abnormality
associated with Chronic Myeloid
Leukemia- Long arm of chromosome 22 is
Tran located to another chromosome
usually 9
Sex Chromosome Abnormalities
• Klinefelter’s Syndrome (47, XXY): They
have eunuchoid body proportion, sterility,
hypogonadism, gynecomastia, mental
retardation
• Turner’s syndrome(45,XO) :They have
short stature, primary amenorrhea, lack of
secondary sexual character, webbing of
neck, low IQ
 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..
 Genetics
Some times certain characters or diseases
which are not present in the family are
manifested in the offsprings.
This occurs through Mutation.
 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.
 Genetics
• Autosomal Dominant
• Autosomal Recessive
• Sex linked dominant
• Sex linked Recessive
 Genetics
Autosomal dominant:
Myotonic dystrophy
Huntington’s disease
Achondroplasia
Osteogenesis imperfecta
 Genetic
Autosomal Recessive:
• Albinism
• Crigler-Najjar syndrome
• Friedreich’ ataxia
• Hepatolenticular degeneration
 Genetics
Sex linked Recessive:
• Duchnne muscular dystrophy
• G6PD deficiency
• Hunter’s syndrome
• Haemophilia
Disorder of multi factorial Causation
• Cleft lip
• Pyloric stenosis
• Sina bifida
• CAD
• Type 2 Diabetes
 Genetics
There is no effective treatment for most
genetic disorders.
Aim is prevention of genetic
disorders through genetic
councilling
 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.
 Environmental Factors:Cold
• Cold urticaria
• Ranaud’s phenomenon
• Hypothermia
• Chilblain
• Frostbite
 Heat
• Heat syncope
• Heat cramps
• Heat exhaustion
• Heat stroke
 High altitudes>2000 meters
Mountain sickness-lack of acclimatization &
hypoxia
Acute mountain sickness
• Head ache
• Lassitude
• Drowsiness
• Dizziness,nausea,vomiting
• Dyspnoea
 Pneumoconiosis
• Pneumoconiosis or coal miner lung
• Silicosis
• Asbestosis