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Genetic disorders
a genetic disorder can be described as a discrete event that affects gene expression in a group of cells related to each other by gene linkagemost genetic disorder are caused by changes in the DNA sequences that alters the synthesis of a single gene productsome genetic disorders are caused by chromosomal rearrangements that result in deletion or duplication of a group of closely linked geneabnormalities in genes or chromosomes will produce abnormal outcomes in cellular functioning TERM 2
Characteristics of single gene disorder
DEFINITION 2 caused by a single defective or mutated genemay be present on an autos or the x-chromosomeprimarily disorders of the paediatric age groupless than 10% manifest after puberty TERM 3
Result of single gene disorder
DEFINITION 3 formation of an abnormal protein or decreased production of gene productdefective or decreased amounts of an enzymedefects in receptor proteins and their functionalterations in non enzyme proteins (eg. connective tissue)mutations resulting in unusual reactions to drugs TERM 4
Autosomal dominant
DEFINITION 4 a single mutant allele from an affected parent in transmitted to an offspring regardless of sex TERM 5
Autosomal
recessive
DEFINITION 5 manifested only when both members of the gene pair are affected (both parents unaffected but carriers)
X-linked
recessive
always associated with the chromosome, inheritance pattern is predominately recessive TERM 7
Autosomal dominant disorders
DEFINITION 7 are manifested by both homozygous & heterozygous individualsin most cases there are more severe clinical outcomes in individuals who are homozygoustend to have low penetrance and a great deal of variable expressivity50% of the offspring of a heterozygous parent and 100% of the offspring of homozygous parent will be affected TERM 8
Neurofibromatosis type 1
DEFINITION 8 disorder in which the patient develop multiple cutaneous and subcutaneous tumoursmost common autosomal dominant disorder TERM 9
Neurofibromatosis type 2
DEFINITION 9 condition involving neurogenic tumours that arise from Schwann cells and other elements of the peripheral nervous system TERM 10
Marfan syndrome
DEFINITION 10 a connective tissue disorder manifested by changes in the skeleton, eyes and cardiovascular systemaffects elastin70- 80% are familial, the rest due to mutation
Characteristics of multifactorial inheritance
disorders
eg. cleft lipmany diseases follow a familial patterncaused by multiple & environmental factorsdisorders can be expressed during fetal life and be present at birth or expressed later in life TERM 17
Coronary artery disease
DEFINITION 17 deposits of fatty plaques in the coronary arteriesfamily history is a strong risk factor however diet, exercise patter, smoking and other disease states have a strong influence on the severity of the disease which developsinheritance disorder TERM 18
Type 2 diabetes
mellitus
DEFINITION 18 disorder of carbohydrate metabolisminheritance disorder TERM 19
Chromosomal disorders
DEFINITION 19 structural changes in result form breakage in one or more of the chromosomes followed by rearrangement or deletion of the chromosome partsfactors to cause this are radiation, certain chemicals, extreme change in cellular environment, viral infectionsmanifestation of chromosomal changes: early gestation abortions(miscarriage), congenital malformations, mental and intellectual disabilities, linked to more than 60 identifiable syndromes present in birthtypes of chromosomal disorders: alterations in chromosomal TERM 20
Chromosomal disorders 2
DEFINITION 20 duplication, alterations in chromosomal number (trisomy 21: down syndrome, monosomy X: turner syndrome, polosomy X: klinefelter
Mitochondrial DNA disorders
comes from the mothersubjected to mutations at a higher rate than nuclear DNAno repair mechanismsdisorders of mitochondrial genes interfere with production of cellular energylead to the production of energy-reactive oxygen species or disrupt the generation of signals that initiate apoptosiscommonly associated with neuromuscular disorders TERM 22
Mitochondrial disorders
DEFINITION 22 in addition to the genes found in the nucleus of the cell, there is DNA in the mitochondria as wellall of the mitochondria in an individual are revived from the ova and not for the spermatozoadisorders of the mitochondria DNA affect all of the children of an affected mothernone of the children of a affected father are affected TERM 23
Lebers hereditary optic
neuropathy
DEFINITION 23 atrophy of the topic nerve with subsequent blindnessit is a mitochondrial disorder TERM 24
Myoclonic epilepsy
DEFINITION 24 seizure disorderit is a mitochondrial disorder TERM 25
Environmental influences causing disorders
DEFINITION 25 teratogenic agents: produce abnormalities during embryonic or fetal developmentmost susceptible to these agents during organogenesis
Psychosocial factors
people with strong social support are better able to with stand the negative affects of stress TERM 32
Sleep-wake cycle
DEFINITION 32 sleep is a restorative function, sleep disorders alter immune function and our ability to adapt TERM 33
Nutrition
DEFINITION 33 important for immunity, enzymes, wound healing TERM 34
Health status
DEFINITION 34 physical and mental states determine physical reserves and psychological ability to adapt TERM 35
Age
DEFINITION 35 ability to adapt is impaired by immaturity of infant development and decrease in function in the elderly
Genetic endowment
differences in genes determine how we respond physically and psychologically TERM 37
Time
DEFINITION 37 affects ability to adapt, adaptation is more effective when change occurs gradually TERM 38
Previous learning
DEFINITION 38 peoples psychological experiences affect response TERM 39
Physiologic
reserve
DEFINITION 39 safety margin of adaptation allows for greater response (blood carries more O2 during stress) TERM 40
Adaptation
DEFINITION 40 the ability to respond to challenges of physical or psychological homeostasis and to return to a balanced statemechanisms that evolved for organisms to respond to or modify their environments, habits or both to achieve a way of life that is best suited to their needs
Eustress
mild, brief and controllable periods of stress, perceived as positive, causes growth TERM 47
Stress response
DEFINITION 47 not all stress is detrimentalcan be endogenous or exogenous or a mix of bothevents or environmental agents responsible for initiating the stress response TERM 48
Stages of general adaptation syndrome
DEFINITION 48 alarmresistanceexhaustion TERM 49
Alarm
DEFINITION 49 mobilizes hormonal and neural defence mechanisms to decrease the impact of the stressor on the body as a wholegeneralized stimulation of the sympathetic nervous system and the HPA (hypothalamus pituitary adrenal gland) axis resulting in release of cortisol and catacolamines (E&NE) TERM 50
Resistance
DEFINITION 50 the body selects the most effective and economic channel of defencenoxious effects of stressor are confined to the smallest area of the body capable of dealing with themalarm reactions decrease and hormone levels return to near normal levelsmost disease states are a manifestation of the resistance phase of GAS (general adaptation syndrome)
Exhaustion
if the body is unable to overcome the stressor or if the stress goes on for too long, the appropriate channel of defence wears out and the response becomes general againhormone levels begin to rise again but the body defences may become exhaustedemergence of signs and symptoms of systemic damage (wear and tear) TERM 52
Acute stress
DEFINITION 52 is considered to enhance immunity TERM 53
Chronic stress
DEFINITION 53 is considered to suppress immunity TERM 54
Stress begins with..
DEFINITION 54 a stimulus that the brain perceives as stressful and promotes adaptation and survival related physiologic responses TERM 55
Stress
DEFINITION 55 a state manifested by symptoms that arise from the coordinated stimulation of the neuroendocrine and immune system (GAS)a state manifested by a specific syndrome of the body developed in response to any stimuli that made an intense systemic demand on it
