Genetic,immunological,enviro Mental,climatic Factors In Disease

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