Ms.

Namita Batra
Lecturer, Community
Health Nursing Deptt.
 There have been many attempts to define disease.
 Webster defines disease as “a condition in which
body health is impaired, a departure from a state of
health, an alteration of the human body interrupting
the performance of vital functions.”
 Oxford English dictionary defines disease as “a
condition of the body or some part or organ of the
body in which its functions are disrupted or
deranged”

 From an ecological point of view, disease is defined

as maladjustment of the human organism to the
environment.”
 Upto the time of louis Pasteur (1922- 1895),
various concepts of disease causation were in
vogue,eg. - the supernatural theory of
disease, the theory of humors, the concept of
contagion, miasmatic theory of disease, the
theory of spontaneous generation, etc.
discoveries in microbiology marked a turning
point in our concepts of causation of disease.
 The factors that play a role in the causation
of diseases include mainly-

 BIOLOGICAL
 PSYCHOSOCIAL
 AGE: diseases like measles, whooping cough
and nutritional deficiencies are common in
childhood.
 Cancer and venereal disease in middle age

arteriosclerosis and coronary heart disease is

common in old age. Chromosomal anomalies
like Down’s syndrome are more common in
the offspring of women conceiving after 35
yrs of age.
 SEX: women have in general higher longevity
than men. Some diseases are more common
in men like atherosclerosis, coronary heart
disease and lung cancer.
 While other diseases are common in women

like obesity, diabetes mellitus and

hyperthyroidism, few diseases are more
severe in men. E.g. Syphilis- probably due to
anatomical and hormonal differences.
 RACE: racial or ethnic differences are
combined manifestations of genetic and
environment factors to which a population is
exposed. Thus some races have innate
resistance to malaria, syphilis, tuberculosis,
leprosy and perhaps to aids infection.
 E.g. - acne vulgaris, common among
Caucasians is uncommon among blacks and
rare in Japanese.
 Parsis have a higher incidence of G-6-PD
deficiency.
 PHYSICAL STATE OF THE BODY: a certain amount
of physical exercise is essential for keeping the
body fit. The advantages of a fitness regime go
beyond the physical domain. There is evidence
that physical exercise helps achieve mental
health as well as physical health. A person
healthy well fed with adequate rest and clothing
is less prone to fall ill.
 Fasting, fatigue, cold lowers the body resistance
against disease agents. Middle aged men and
women following a physical fitness regime have
less risk of premature death than their sedentary
counterparts.
 HUMAN GENETICS: according to many,
genetically conditioned diseases or diseases
with a clear genetic component account for
25-40 percent of all cases treated by the
health services. Human genetics is much
more than the study of mere hereditary
diseases. It’s a basic biological science for
understanding the endogenous factors in
health and diseases and the complex
interaction between nature and nurture.
 Chromosomes are rod like condensations of
chromatin.
 They become visible in the nucleus only during
cell division.
 Occur in pairs- one member of each pair comes
from the father and other from the mother.
 The number of chromosomes in each species is
fixed. All individuals of the same species have
the same number of chromosomes. Thus the
total number for man is 46, the fruit fly is 8,
garden pea 14 and potato 48.
 Genes are the units of heredity.
 They contain the hereditary information encoded
in their chemical structure for transmission from
generation to generation.
 They affect development and function, both
normal and abnormal.
 Though genes are not seen with a microscope,
much is known about them by indirect methods.
 It is said we inherit about 50,000 genes from the
father and 50,000 from the mother.
 The genes occupy a specific position or locus on
the chromosome. Presumably, some thousands
of loci are contained in chromosomes.
 Chromosomal abnormalities arise in human
beings from time to time. They arise in various
ways:
 Non-disjunction: by error in nuclear division
called “non-disjunction” a pair of chromosomes
may fail to separate and both are carried to one
pole. The resulting daughter cells contain an
unequal number of chromosomes, 45 or 47. This
numerical abnormality in which the chromosome
number is not an exact multiple of the haploid
number is called aneuploidy.
 Translocation: sometimes during nuclear
division, a portion of one chromosome
breaks away and becomes attached to
another which is not homologous to the first.
This is called translocation.
 Deletion: a piece of a chromosome may

become detached and lost from the karyo-

type resulting in the loss of one or more
genes. If the loss is severe, it may be
incompatable with live births.
 Duplication: some genes may appear twice in
the same chromosome. This is called
duplication.
 Inversion: sometimes a chromosomal

segment becomes inverted and then the

order of sequence of genes is altered.
 Isochromosomes: these are a special class of

structurally abnormal chromosomes arising

because of misdivision i.e. transverse division
instead of the normal longitudinal division.
 Mosaicism: the cell of the body is
compounded of cells of two or more
genetically different chromosome types. This
can result by mutation or non-disjunction
either during embryo or later life.
 CHROMOSOMAL ABNORMALITIES
 UNIFACTORIAL (SINGLE GENE OR MANDELIAN)

DISEASES
 MULTIFACTORIAL DISORDERS
 CHROMOSOMAL ABNORMALITIES:
 More than 300 numerical and structural types

of chromosome abnormalities have been

described. The incidence of chromosomal
abnormalities is 5-6 per 1000 live births. Of
these, 2 per 1000 live births autosomal
aneuploidies and 1.9 per 1000 live births
chromosomal translocations.
 The following are some of the well known
syndromes associated with abnormalities of
sex chromosomes:
 KLINEFELTER’S SYNDROME:
◦ This is a common sex-chromosome aneuploidy.
Persons suffering from this syndrome are abnormal
males having two or more x chromosomes in
addition to one y- chromosome (xxy, xxxy).
◦ Main feature of this syndrome is- eunuchoid males
with non-functioning testis, spermatozoa is absent
in their ejaculations. It’s associated with
gynaecomastia and mental retardation.
 XYY SYNDROME:
◦ The male with an extra y chromosome has
attracted much attention because of his reported
tendency to anti-social, aggressive and often
criminal behavior.
◦ The principal features are exceptional height
(over 6 feet usually) and a serious personality
disorder leading to behavioral disturbances. The
incidence is about 1 in1000 males at birth.
 TURNERS SYNDROME:
◦ 98% of the conceptus aborts spontaneously. the
remaining account for 1 in 7500 live born girls.
◦ They have an increased risk of dying in the neonatal
period. Person suffering from this syndrome are
apparent females with underdeveloped sex glands.
◦ They have 45 chromosomes with sex chromosome
constitution of xo instead of xx due to non-
disjunction.
◦ Clinically patients are of short stature, infertile and
have primary amenorrhea. They often show other
congenital defects such as coarctation of the aorta,
pulmonary stenosis, renal malformations and mental
retardation.
 SUPER FEMALES:
◦ Females with 3 to 5 x-chromosomes (xxx, xxxx,
xxxxx) have been found. The higher the number
of x-chromosomes, the greater the degree of
mental retardation and congenital abnormalities.
e.g. Underdeveloped external genitalia, uterus
and vagina.
There are many syndromes associated with
abnormalities of autosomes. Mongolism or Down’s
syndrome is caused by an extra chromosome which
occurs on the 21st pair. The anomaly is therefore at
times described as “trisomny 21”.
They are short stature and small round head,
narrow, tilted eye-slits, malformed ears, short
broad hands, lax limbs, mental retardation and
quite a few other abnormalities especially internal
congenital defects such as cardiac defects and
Artesia of the alimentary tract.
Diseases inherited according to the Mendelian laws.
These are-

Autosomal dominant: an individual with an

autosomal dominant trait will produce two kinds of
gametes with respect to the mutant gene- half with
the mutant gene and half with the normal allele.
The offspring of such an individual has a 50-50
chance of being affected, provided the other parent
is normal. The sexes are equally affected.
 Autosomal recessive: abnormalities caused by
recessive genes occur when both the parents
are heterozygous. Each offspring of such
parent has a 1:4 chance of being affected.
Autosomal recessive diseases occur
sporadically in the children of outwardly
normal parents.
  
 Sex linked inheritance: in sex linked
inheritance, a mutant gene on x-
chromosome in males will express itself
readily as there is no normal allele, while a
mutant gene on X chromosome in females
will not express in the presence of the normal
allele. This is the basis of sex-linked
inheritance of which hemophilia is an
outstanding example.
  
 MULTIFACTORIAL DISORDERS
◦ The frequency of multifactor disorders is high
compared with that of Mendelian and chromosomal
disorders.
◦ There are indications that most of the common
disorders of adult life such as essential hypertension,
schizophrenia, mental retardation, duodenal ulcer,
ischemic heart disease of early onset, diabetes, and
congenital heart malformations are conditions with a
multifactor etiology.
◦ A small minority of cancers are clearly inherited; these
include familial polyposis coli, familial non- polyposis
colon cancer and some thyroid cancers.
 The psychosocial factors studied in health
care include aspects of individual’s social
experience, exposure to different types of
adversity (eg. Work stress, life events) family
and neighborhood factors (such as family
conflict and neighborhood social cohesion)
and psychosocial parameters (such as
depression, anxiety and hostility) some of the
psychosocial aspects shown to play a role in
disease causation include-
 Marital status:
◦ According to a soviet study, staying single can cut
short a man’s lifespan by more than 9 years and a
women’s lifespan by more than 4 years.
◦ The Framingham offspring study- to determine if
marriage and mental status are related to the 10-
year coronary heart disease (CHD) incidence or
total mortality. The study showed that-
◦ The married men compared with the unmarried
men were almost half as likely to die during
follow-up.
 Psychological state and personality:
◦ Compulsive habit, behavioral pattern and personality traits
influence the human health to a great extend. Too much
worry and mental tension is associated with psychosomatic
conditions like HTN, coronary disease and peptic ulcer.
◦ Recent research has revealed some newer
mechanisms by which psychological state can act as
a host factor influencing health. There is evidence
that a state of complete mental relaxation, as found
in meditation and certain yogic asanas such as
shavasan, is associated with increased alpha wave
activity in frontal lobes and a positive effect on
immunodefence mechanisms of the body.
 Sexual behavior:
◦ Sexual behavior affects health to a great extend as
they have a role in the causation and severity of
disease.
◦ Sexual promiscuity with several partners can lead to
venereal diseases including AIDS.
◦ Sex without contraception results in unwanted
pregnancy, with all its sociological, psychological and
physiological implications.
◦ Masturbation, along with guilt feeling, is a cause of much
anxiety in most adolescent.
◦ Rape and child abuse are manifestations of uncontrolled
sexual behavior
 Spirituality:
 It is used here in much wider sense- that is

“positive thinking” or “willpower”. The

development of willpower or positive
thinking is done by-
◦ Regular physical exercise
◦ Closeness to peaceful natural surroundings, such
as seaside, riverside, lakeside, a walk in the
garden or even, listening to the rustle of leaves in
a breeze.
 Health behavior including eating and smoking:
◦ Behaviors expressed by individuals to protect,
maintain or promote their health status. For
example, proper diet, and appropriate example are
activities perceived to influence healthy status.
◦ Behaviors such as stopping smoking, moderation
of alcohol intake, healthy eating and physical
activity can reduce the risks of developing serious
illnesses such as cancer, heart disease and type 2
diabetes.
 Health behavior including eating and smoking:
◦ The contribution of behavior to the burden of illness
can be understood from the statistics given below.
◦ Smoking causes 1 in 4 cancer deaths in the UK.
◦ It is estimated that obesity reduces life expectancy
by between 3 and 13 years.
◦ Alcohol is estimated to be a factor in about 20- 30%
of all road accidents.
◦ One third of all deaths are due to illness whose
prevalence could be at least partly reduced by
increased physical activity.
 Biological and psychosocial dynamics of
disease causation hence includes the various
factors that influence the health of human
beings and bring about disease. Factors like
age, sex, race, genetics which we have no
control over and other factors like behavior
that we can modify.
◦ Gupta mc, ‘textbook of preventive and social
medicine’, Jaypee brothers medical publishers (p) ltd,
2005, 127-136.
◦ K park, ‘textbook of preventive and social medicine’,
Banarsidas Bhanot publishers, 16th edition, 2000,
571-575.
◦ Psychiatric quarterly; springer Netherlands publisher,
volume- 10, 245-261.
◦ http: //www.psychosomatic
medicine.org/cgi/content/abstract/69/6/509
◦ www.parliament.uk/documents/upload/post2
83.pdf
◦ cancerweb.ncl.ac.uk/cgi-bin/omd