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The Human
Body in Health
and Disease
Chapter 2
anatomy: made up of increasing
larger and more complex structural units
•Cells  tissues  organs  the body
Body Systems
 Skeletal
 Urinary
 Muscular
 Nervous
 Cardiovascular  Special
 Lymphatic
 Immune
 Respiratory
 Digestive
 Integumentary
 Endocrine
 Reproductive
basic structural and functional units of
the body
specialize and group together to form
tissues and organs
•Cytology – the study of the anatomy,
physiology, pathology and chemistry of the
The Structure of Cells
Cell Membrane – the tissue that
surrounds and protects the contents of the
cell by separating them from its external
 Cytoplasm – material within the cell
membrane that is not part of the nucleus
 Nucleus – surrounded by a nuclear
membrane; a structure within the cell that
has two important fxns:
Controls the activities of the cell
 Helps the cell divide
Stem Cells
Unspecialized cells that are able to renew
themselves for long pds of x by cell division
In contrast to other cell types that have a
specialized role and die after a determined lifespan
Under certain conditions stem cells can be
transformed into cells with special fxns such as
the cells of the heart m that make the
heartbeat possible or the specialized cells of the
pancreas that are capable of producing insulin
Adult Stem Cells
 Somatic
Stem Cells; undifferentiated (no
special fxn) cells found among differentiated
(have a specialized fxn) cells in a tissue or
 Maintain
and repair the tissue in which they are
 Have the potential to be transplanted from one
individual to another
Found in donor’s bone marrow
 Has to be an excellent match between donor and
Graft versus host disease
Embryonic Stem Cells
Undifferentiated! Unlike an specific adult cell;
have the ability to form ANY adult cell!!!
 Grow
rapidly and indefinitely in a lab and could
potentially provide a source for adult m, liver, bone, or
blood cells
 They are more primitive than adult stem cells,
therefore a perfect match is not required
 Found in cord blood in the umbilical cord and placenta
 Can also be obtained from surplus embryos produced
by in vitro (test tube) fertilization
– a fundamental physical and
functional unit of heredity
hereditary disorders and all
physical traits such as hair, skin and eye
– the study of how genes
transfer from parent to child(ren) and
the role of genes in health and
•Dominant and
Recessive Genes
Each newly formed individual receives two genes of
each genetic trait: one from the father, one from the
Dominant Gene – the offspring will inherit that genetic
A recessive gene inherited from both parents means the
offspring will have that condition
A recessive gene from only one parent, and a normal gene
from the other parent, the offspring will not have the
• Dominant
Gene: ex –
freckles are a dominant trait
• Recessive sickle cell +
recessive sickle cell = child
WILL HAVE sickle cell
• Recessive sickle cell +
normal cell = child WILL NOT
HAVE sickle cell, but will
carry the trait
• The
Human Genome
• Genome
– the complete set of
genetic information of an
• The Human Genome Project was
formed to study this genetic
code in all people and
throughout the world
• Found
that over 99% of the genetic
code is the same among human
beings throughout the world
• Chromosomes
– the genetic
structures located within the
nucleus of each cell
• Made up of DNA molecules
that contain the body’s
genes – helps keel a lg
amount of info neat,
organized, and compact
• Somatic
Cell – any cell in the body
other than gametes (sex cells) – 46
chromosomes arranged into 23 pairs;
22 identical pairs and one other…
either XX or XY (fem/male)
• Sex Cell – gamete; only type of cell
that does not contain 46
chromosomes – each ovum (egg) or
sperm has a single set of 23
chromosomes… in a female, one will
be an X and in a male one will be an
X or Y; the X or Y from the father
determines the sex of the child
– deoxyribonucleic acid; the basic
structure of the DNA molecule
Packaged on a chromosome as 2 spiraling
strands that twist together to form a double
helix; looks like a spiral staircase and consists of 2
strands twisted together
• Found in the nucleus of every cell except RBCs
• DNA is different for every individual and no two
patterns are the same… EXCEPT??? Identical
TWINS! (formed from 1 fertilized egg that divides)
identical genetic make up, but individual finger
prints and other characteristics
•Genetic Mutation
• Genetic
mutation – a change in the
sequence of a DNA molecule (radiation
or environmental pollution may be a
• Somatic
cell mutation – a change within
the cells of the body; affect the
individual but cannot be transmitted to
the next generation
• Gametic cell mutation – a change within
the genes in a gamete that can be
transmitted by parent to his/her child
• Genetic Engineering – manipulating or
splicing of genes for scientific or medical
•Genetic Disorders
• Genetic
Disorder – hereditary disorder; a
pathological condition caused by an
absent or defective gene
Cystic Fibrosis (CF) – a genetic disorder that is
present at birth and affects both the
respiratory and digestive systems
• Down Symdrome (DS) – a genetic variation
that is associated with characteristic facial
appearance, leaning disabilities, and
physical abnormalities
• Hemophilia – a group of hereditary disorders
in which a blood-clotting factor is missing
Huntington’s Disease (HD) – a genetic disorder
that is passed from parent to child
• Each
child has a 50-50 chance of inheriting the
defective gene (causes nerve degeneration =
uncontrolled movements and the loss of some mental
Muscular Dystrophy – the term used to describe a
group of genetic diseases that are characterized
by progressive weakness and degeneration of the
skeletal mm that control movement
• Phenylketonuria – PKU; a genetic disorder in
which the essential digestive enzyme
phenylalanine hydroxylase is missing
• Tay-Sachs Disease – a fatal genetic disorder in
which harmful quantities of a fatty substance
build up in tissues and nerve cells in the brain
– a group or layer of similarly
specialized cells that join together to perform
certain specific functions
Types: epithelial, connective, muscle, and nerve
•Histology – the study of the structure,
composition, and function of tissues
•Histologist – a specialist in the study of the
organization of tissues at all levels
Epithelial Tissues
Epithelial Tissues – form a protective
covering for all of the internal and external
surfaces of the body
Epithelium – the specialized epithelial tissue
that forms the epidermis of the skin and the
surface layer of mucous membranes
 Endothelium – the specialized epithelial tissue
that lines the blood and lymph vessels, body
cavities, glands and organs
Connective Tissues
Connective Tissues – support and connect
organs and other body tissues. 4 Kinds:
Dense Connective Tissues – bone and cartilage,
form joints and the framework of the body
Adipose Tissue – fat; provides protection,
padding, insulation, and support
Loose Connective Tissue – surrounds various
organs and supports both nerve cells and blood
Liquid Connective Tissues – blood and lymph
Muscle Tissue
Tissue –
contains cells with
the specialized
ability to contract
and relax
Nerve Tissue
Tissue – contains
cells with the specialized
ability to react to stimuli
and to conduct electrical
Pathology of Tissue
Frequently due to unknown causes, can
occur before birth as the tissues are
forming, or appear later in life
Incomplete Tissue Formation
Aplsia – the defective development, or the
congenital absence of an organ or tissue (awithout, -plasia formation)
 Hypoplasia – the incomplete development of
an organ or tissue usually die to a deficiency
in the number of cells (hypo- low)
 Abnormal
Tissue Formation
 Anaplasia
– a change in the structure of cells
and in their orientation to each other (anaexcessive)… characteristic of cancer
 Dysplasia – an abnormal development of growth
or cells, tissues, or organs (dys- bad)
 Hyperplasia – the enlargement of an organ or
tissue because of an abnormal increase in the
number of cells in the tissues
 Hypertrophy – a general increase in the bulk of
a body part or organ that is due to an increase in
the size but not in the number of cells in the
tissues (-trophy development)
 Gland
– a group if specialized
epithelial cells that are capable of
producing secretions
 Exocrine
Glands – secrete chemical
substances into ducts that lead either
to other organs or out of the body
 Endocrine Glands – shave no ducts;
instead, release hormones into the
Pathology and
Procedures of the Glands
Adenitis – inflammation of a gland (aden/ogland)
Adenocarcinoma – a malignant tumor that
originates in glandular tissue
Adenoma – a benign tumor that arises in, or
resembles, glandular tissue
Adenomalacia – the abnormal softening of a
Adenosis – any disease condition of a gland
Adenosclerosis – the abnormal hardening of a
Adenectomy – the surgical removal of a gland
body organ is a
independent part of
the body that
performs a specific
 Pathology
– the study of the nature
and cause of disease that involves
changes in structure and function
 Pathologist
– specializes in the
laboratory analysis of tissue samples to
confirm or establish a diagnosis
 Can
be removed in biopsies, during
operations, or in postmortem exams
 Etiology
– the study of the cause of
Disease Transmission
A pathogen is a disease-producing
 Transmission is the spread of disease
 Contamination means that a pathology is
possibly present
Communicable Disease – contagious
disease; any condition that is transmitted
from one person to another either by direct
or indirect contact with a contaminated
Indirect Contact Transmission – refers to
situations in which a susceptible person is
infected by contact with a contaminated surface
 Bloodborne Transmission – the spread of
disease through contact with blood or other
body fluids that are contaminated with blood
(HIV, STDs, HepB)
 Airborne Transmission – occurs through
contact with contaminated respiratory droplets
spread by a cough or sneeze
 Food-borne
and Waterborne
Transmission – fecal-oral transmission;
caused by eating or drinking contaminated
food or water that has not been properly
treated to remove contamination or kill
pathogens that are present
 Vector-borne Transmission – is the
spread of a certain disease due to the bite
of a vector
 Flies,
mites, fleas, ticks, rats and dogs
Outbreaks of Diseases
Epidemilogist – a specialist in the study
of outbreaks of disease within a population
 Endemic
– the ongoing presence of a
disease within a population, group or area
 Epidemic – is a sudden and wide-spread
outbreak of disease within a specific
population, group or area
 Pandemic – an outbreak of a disease
ocurring over a large geographic area,
possibly world wide
Types of Disease
 Functional
Disorder – produces
symptoms for which no physiological
or anatomical cause can be identified
(panic attack)
 Iatrogenic Disease – an unfavorable
response due to prescribed medical tx
(burns from radiation tx)
 Idiopathic Disorder – illness without
known cause
 Nosocomial
Infection – a
disease acquired in the hospital or
clinic setting (MRSA)
 Organic Disorder – produces
symptoms caused by detectable
physical changes in the body
Anatomic Reference Systems