EXAM #1 (LECTURES 1-6) GUIDED

Question 1

Gross versus histologic examinations

Gross/macroscopic - what you can see with the naked _____, the _____, the _____, the _____ from the tumor to the nearest margin, the individual features

Histologic/microscopic - examining the tissue with the aid of the _____, light _____

Answer 1

Gross versus histologic examinations

Gross/macroscopic - what you can see with the naked eye, the weight, the size, the distance from the tumor to the nearest margin, the individual features

Histologic/microscopic - examining the tissue with the aid of the microscope, light microscopy

Question 2

Hypertrophy

_____ in the size of cells

Occurs in organs that are incapable of _____

Pathologic (_____) versus Physiologic (normal cellular response to something in the _____ but not necessarily disease, e.g. exercise)

Answer 2

Hypertrophy

Increase in the size of cells

Occurs in organs that are incapable of dividing

Pathologic (disease) versus Physiologic (normal cellular response to something in the environment but not necessarily disease, e.g. exercise)

Question 3

Hyperplasia

_____ in the number of cells; tissue gets bigger

Physiologic - normal

_____ - the endometrial tissue, the lining of the uterus, every month the endometrium cycles through and regrows a new endometrium, that is growing bigger and more cells are being added

_____ - it gets bigger because of the loss of other tissues

_____ - abnormal, due to disease

Hormonal - many tumors for example are hormonal responsive, responsive to _____ and _____

Growth Factor Stimulation - different types of genes that turn on that activate malignant tumors to grow

Answer 3

Hyperplasia

Increase in the number of cells; tissue gets bigger

Physiologic - normal

Hormonal - the endometrial tissue, the lining of the uterus, every month the endometrium cycles through and regrows a new endometrium, that is growing bigger and more cells are being added

Compensatory - it gets bigger because of the loss of other tissues

Pathologic - abnormal, due to disease

Hormonal - many tumors for example are hormonal responsive, responsive to estrogen and testosterone

Growth Factor Stimulation - different types of genes that turn on that activate malignant tumors to grow

Question 4

Atrophy

_____ of cells, volume of tissue _____; ultimately organs, number of cells may die off

Physiologic - natural atrophy, e.g. the ovaries after _____, the thymus gland is largest in infancy and most is gone in _____

Pathologic - tissues shrink due to disease, e.g. spinal cord injury and loses nerve innervation to lower limbs and muscle mass shrivels up

Answer 4

Atrophy

Shrinkage of cells, volume of tissue decreases; ultimately organs, number of cells may die off

Physiologic - natural atrophy, e.g. the ovaries after menopause, the thymus gland is largest in infancy and most is gone in 20’s

Pathologic - tissues shrink due to disease, e.g. spinal cord injury and loses nerve innovation to lower limbs and muscle mass shrivels up

Question 5

Metaplasia

Replacement of one cell type by a _____ cell type, e.g. someone has an ill fitting dental appliance and it continually rubs on their cheek, the lining of the cheek is squamous epithelium, the outside is the same with keratin, the inner side may become keratinized (rough patch on the inside of your cheek)

_____ process

Can be _____

Can initiate more severe changes

Answer 5

Metaplasia

Replacement of one cell type by a different cell type, e.g. someone has an ill fitting dental appliance and it continually rubs on their cheek, the lining of the cheek is squamous epithelium, the outside is the same with keratin, the inner side may become keratinized (rough patch on the inside of your cheek)

Reversible process

Can be protective

Can initiate more severe changes

Question 6

_____ Necrosis

Firm and architecture of tissue is preserved

Common of infarcts

Answer 6

Coagulative Necrosis

Firm and architecture of tissue is preserved

Common of infarcts

Question 7

Liquefactive Necrosis

_____ of tissue

Induced by _____

Hypoxic changes in _____ tissue

Answer 7

Liquefactive Necrosis

Dissolution of tissue

Induced by microbes

Hypoxic changes in CNS tissue

Question 8

Gangrenous Necrosis

Clinical term for _____ damage

Dry

_____ (usually) – when accompanied by liquefaction

Answer 8

Gangrenous Necrosis

Clinical term for ischemic damage

Dry

Wet (usually) – when accompanied by liquefaction

Question 9

Casseous Necrosis

“_____-like”

Characteristic of _____

Answer 9

Casseous Necrosis

“Cheese-like”

Characteristic of TB

Question 10

_____ Necrosis

Occurs in fatty tissue

Evidenced by saponification (become _____ and _____, _____ yellow)

Answer 10

Fat Necrosis

Occurs in fatty tissue

Evidenced by saponification (become firm and chalky, darker yellow)

Question 11

Ischemia/Hypoxia

_____ – diminished blood flow to tissue

_____ – lack of O2/does not have to be ischemic

Potential for Ischemia-Reperfusion Injury

Answer 11

Ischemia/Hypoxia

Ischemia – diminished blood flow to tissue

Hypoxia – lack of O2/does not have to be ischemic

Potential for Ischemia-Reperfusion Injury

Question 12

Apoptosis

“_____ program”

Plasma membrane remains _____

Does not elicit _____ reaction (unlike necrosis)

Different than necrosis

Answer 12

Apoptosis

“Suicide program”

Plasma membrane remains intact

Does not elicit inflammatory reaction (unlike necrosis)

Different than necrosis

Question 13

Pigments:

_____ - produced outside the body

• Carbon - anthracosis (black color in lungs)

_____ - produced by the body

• _____ - normal wear and tear of the body as a result of aging
• _____ - skin pigmentation that can be present in freckles and moles
• _____ - iron pigment in tissue that has experienced prior bleeding
• _____ - breakdown due to red blood vessels leftover pigment

Answer 13

Pigments:

Exogenous - produced outside the body

• Carbon - anthracosis (black color in lungs)

Endogenous - produced by the body

• Lipofucin - normal wear and tear of the body as a result of aging
• Melanin - skin pigmentation that can be present in freckles and moles
• Hemosiderin - iron pigment in tissue that has experienced prior bleeding
• Bilirubin - breakdown due to red blood vessels leftover pigment

Question 14

Cardinal Signs of Inflammation

Shows signs at the macroscopic (gross) level

“Cardinal Signs of Inflammation”

Calor – _____

Rubor – _____

Tumor – _____

Dolar – _____

Functio laesa – loss of _____

Answer 14

Cardinal Signs of Inflammation

Shows signs at the macroscopic (gross) level

“Cardinal Signs of Inflammation”

Calor – heat

Rubor – redness

Tumor – swelling

Dolar – pain

Functio laesa – loss of function

Question 15

Acute Inflammation

_____ onset

_____ duration (_____ to _____)

Answer 15

Acute Inflammation

Rapid onset

Short duration (minutes to days)

Question 16

Chronic Inflammation

_____ onset

May last _____ to _____

Involves more _____ function

More likely to include fibrosis (_____)

Answer 16

Chronic Inflammation

Slow onset

May last months to years

Involves more lymphocyte function

More likely to include fibrosis (scarring)

Question 17

_____ — extravascular fluid with low protein content and a low specific gravity

Answer 17

Transudates — extravascular fluid with low protein content and a low specific gravity

Question 18

_____ — a mass of cells and fluid that has seeped out of blood vessels or an organ, especially in inflammation

Answer 18

Exudates — a mass of cells and fluid that has seeped out of blood vessels or an organ, especially in inflammation

Question 19

_____

The process in which free-flowing leukocytes exit the central blood stream, and initiate leukocyte and endothelial cell interactions by close mechanical contact.

Answer 19

Margination

The process in which free-flowing leukocytes exit the central blood stream, and initiate leukocyte and endothelial cell interactions by close mechanical contact.

Question 20

_____

WBC’s then squeeze through usually at cell junctions in the venules

Answer 20

Diapedesis

WBC’s then squeeze through usually at cell junctions in the venules

Question 21

_____

movement along a chemical gradient

Answer 21

Chemotaxis

movement along a chemical gradient

Question 22

_____ Inflammation

Watery, relatively protein poor fluid

Effusions/vesicles

Answer 22

Serous Inflammation

Watery, relatively protein poor fluid

Effusions/vesicles

Question 23

_____ Inflammation

More severe inflammation

More protein (like fibrinogen) escapes with fluid

Thicker exudate

Can resolve or scar

Answer 23

Fibrinous Inflammation

More severe inflammation

More protein (like fibrinogen) escapes with fluid

Thicker exudate

Can resolve or scar

Question 24

_____ (Supprative) Inflammation

Characterized by presence of pus

Some organisms more likely than others

Answer 24

Purulent (Supprative) Inflammation

Characterized by presence of pus

Some organisms more likely than others

Question 25

_____ Inflammation Specific form of chronic inflammation Casseous necrosis Characterized by epitheliod pattern of macrophages Seen with only specific types of pathologies: Tuberculosis Fungal infections Infections with Treponema pallidum Foreign body reactions

Answer 25

Granulomatous Inflammation Specific form of chronic inflammation Casseous necrosis Characterized by epitheliod pattern of macrophages Seen with only specific types of pathologies: Tuberculosis Fungal infections Infections with Treponema pallidum Foreign body reactions

Question 26

Different types of macrophages _____ – Kupffer cells _____/_____ nodes – sinus histiocytes _____ – microglial cells _____ – alveolar macrophages Secrete variety of cell _____ as in acute inflammation Proteases that contribute to _____ damage _____ damaging Associated with _____ – i.e. smooth muscle proliferation

Answer 26

Different types of macrophages Liver – Kupffer cells Spleen/lymph nodes – sinus histiocytes CNS – microglial cells Lung – alveolar macrophages Secrete variety of cell mediators as in acute inflammation Proteases that contribute to tissue damage Microbial damaging Associated with healing – i.e. smooth muscle proliferation

Question 27

Pyrogens bacterium which cause _____

Answer 27

Pyrogens bacterium which cause fever

Question 28

_____ White cells (the _____ count) above the normal range in the blood. It is frequently a sign of an inflammatory response, most commonly the result of infection, but may also occur following certain parasitic infections or bone tumors as well as leukemia.

Answer 28

Leukocystosis White cells (the leukocyte count) above the normal range in the blood. It is frequently a sign of an inflammatory response, most commonly the result of infection, but may also occur following certain parasitic infections or bone tumors as well as leukemia.

Question 29

_____ Cells Continuously Dividing Tissues Can easily regenerate Includes: • surface epitheliums • epithelium of ducts • hematopoietic tissues

Answer 29

Labile Cells Continuously Dividing Tissues Can easily regenerate Includes: • surface epitheliums • epithelium of ducts • hematopoietic tissues

Question 30

_____ Cells Retain the ability to proliferate Capable of limited regeneration Includes parenchymal tissues of most organs, endothelial cells, fibroblasts, and smooth muscle cells

Answer 30

Stable Cells Retain the ability to proliferate Capable of limited regeneration Includes parenchymal tissues of most organs, endothelial cells, fibroblasts, and smooth muscle cells

Question 31

_____ Cells “Terminally differentiated”/ non-proliferative in post-natal life Includes majority of neurons and cardiac muscle cells May have limited ability to proliferate; but in sufficient to regenerate

Answer 31

Permanent Cells “Terminally differentiated”/ non-proliferative in post-natal life Includes majority of neurons and cardiac muscle cells May have limited ability to proliferate; but in sufficient to regenerate

Question 32

_____ Cells Are self-renewing (can continuously replicate) Have asymmetric replication ½ of progeny remain undifferentiated to self-renew ½ of progeny enter the differentiation cycle of that tissue Maybe specific to tissues (i.e. epitheliums) or.. Maybe pluripotent • Embryonic Stem Cells • Adult of Tissue Stem Cells

Answer 32

Stem Cells Are self-renewing (can continuously replicate) Have asymmetric replication ½ of progeny remain undifferentiated to self-renew ½ of progeny enter the differentiation cycle of that tissue Maybe specific to tissues (i.e. epitheliums) or.. Maybe pluripotent • Embryonic Stem Cells • Adult of Tissue Stem Cells

Question 33

_____ Signaling Factor acts predominantly or exclusively on the cell that produces it i.e. lymphoid proliferation in immunity and liver regeneration

Answer 33

Autocrine Signaling Factor acts predominantly or exclusively on the cell that produces it i.e. lymphoid proliferation in immunity and liver regeneration

Question 34

_____ Signaling Factor affects cells in the immediate vicinity i.e. recruiting cells in inflammation and wound healing

Answer 34

Paracrine Signaling Factor affects cells in the immediate vicinity i.e. recruiting cells in inflammation and wound healing

Question 35

_____ Signaling Products released into the blood stream and act on distant cells i.e. hormones

Answer 35

Endocrine Signaling Products released into the blood stream and act on distant cells i.e. hormones

Question 36

_____ Intention Healing “Healing of a clean, uninfected surgical incision” Significant damage has not occurred from injury of extensive inflammation The epithelial growth is able to predominate over the connective tissue growth (less scar formation).

Answer 36

First Intention Healing “Healing of a clean, uninfected surgical incision” Significant damage has not occurred from injury of extensive inflammation The epithelial growth is able to predominate over the connective tissue growth (less scar formation).

Question 37

_____ Intention Healing Occurs when cell or tissue loss is more extensive Occurs with: ulceration, large wounds, abscess formation Characterized by more extensive inflammation and granulation tissue formation

Answer 37

Second Intention Healing Occurs when cell or tissue loss is more extensive Occurs with: ulceration, large wounds, abscess formation Characterized by more extensive inflammation and granulation tissue formation

Question 38

Angiogenesis Vessels formed by two processes: _____ – as in embryonic development – new vessels from angioblasts _____ or _____ – new capillary sprouts are “sent out” from existing blood vessels

Answer 38

Angiogenesis Vessels formed by two processes: Vasculogenesis – as in embryonic development – new vessels from angioblasts Angiogenesis or Neovascularization – new capillary sprouts are “sent out” from existing blood vessels

Question 39

Pathologic complications of repair (examples) Infections - _____ healing Poor nutrition - _____ the formation of collagen Glucocorticoid administration - _____ wound strength Pressure of the wound - pull apart (_____) Foreign bodies - _____ healing

Answer 39

Pathologic complications of repair (examples) Infections - delays healing Poor nutrition - reduce the formation of collagen Glucocorticoid administration - less wound strength Pressure of the wound - pull apart (dehisce) Foreign bodies - impede healing

Question 40

_____ - area of irregular fibrous tissue formed at the site of a scar or injury

Answer 40

Keloid - area of irregular fibrous tissue formed at the site of a scar or injury

Question 41

_____ - large organization and scar formation may occur

Answer 41

Adhesions - large organization and scar formation may occur

Question 42

Effects of Carboxyhemoglobin carbon monoxide accumulates and causes _____ _____ – hypoxic events in CNS _____ – death; cherry read discoloration

Answer 42

Effects of Carboxyhemoglobin carbon monoxide accumulates and causes hypoxia Chronically – hypoxic events in CNS Acutely – death; cherry read discoloration

Question 43

_____ Those that contain infectious agents Common _____ Legionnaires Disease — severe form of _____ — lung inflammation usually caused by infection. Legionnaires' disease is caused by a bacterium known as _____.

Answer 43

Bioaerosols Those that contain infectious agents Common cold Legionnaires Disease — severe form of pneumonia — lung inflammation usually caused by infection. Legionnaires' disease is caused by a bacterium known as legionella.

Question 44

Most common site of lead absorption?

Answer 44

80-85% in bone and developing teeth

Question 45

_____ — drug that contains ethyl mercury used to be a preservative in some vaccines

Answer 45

Thimerosal — drug that contains ethyl mercury used to be a preservative in some vaccines

Question 46

_____ Skin disorder Acne Cyst formation Hyperpigmentation Hyperkeratosis

Answer 46

Chloracne Skin disorder Acne Cyst formation Hyperpigmentation Hyperkeratosis

Question 47

Harmful substances in tobacco Tar – carcinogenic Polycyclic aromatic hydrocarbons – carcinogenic Phenol – tumor promotion; mucosal irritation Benzopyrene – carcinogenic Carbon monoxide – impaired oxygen transport Formaldehyde – Toxicity to cilia; mucosal irritation Oxides of Nitrogen - Toxicity to cilia; mucosal irritation Nitrosamine – carcinogenic Nicotine – additive (binds to receptors in brain)

Answer 47

Harmful substances in tobacco Tar – carcinogenic Polycyclic aromatic hydrocarbons – carcinogenic Phenol – tumor promotion; mucosal irritation Benzopyrene – carcinogenic Carbon monoxide – impaired oxygen transport Formaldehyde – Toxicity to cilia; mucosal irritation Oxides of Nitrogen - Toxicity to cilia; mucosal irritation Nitrosamine – carcinogenic Nicotine – additive (binds to receptors in brain)

Question 48

Effects of Chronic Alcoholism _____ – main site of injury Alcoholic hepatitis; cirrhosis _____ _____ Massive bleeding – gastritis, ulcers, varices _____ _____ Neurologic – peripheral neuropathies, cerebral atrophy _____ _____ Alcoholic cardiomyopathy, increased HDL’s (with moderation; decreased with heavy consumption), increased incidence of HTN _____ Increases risk of pancreatitis (acute and chronic) Cancers Increases risk of oral cavity, esophagus, liver, possibly breasts in female Pregnancy _____ alcohol syndrome – microcephaly, growth retardation, facial anomalies,

Answer 48

Effects of Chronic Alcoholism Liver – main site of injury Alcoholic hepatitis; cirrhosis GI Tract Massive bleeding – gastritis, ulcers, varices Thiamine Deficiency Neurologic – peripheral neuropathies, cerebral atrophy Cardiovascular System Alcoholic cardiomyopathy, increased HDL’s (with moderation; decreased with heavy consumption), increased incidence of HTN Pancreas Increases risk of pancreatitis (acute and chronic) Cancers Increases risk of oral cavity, esophagus, liver, possibly breasts in female Pregnancy Fetal alcohol syndrome – microcephaly, growth retardation, facial anomalies,

Question 49

_____ – scraping or rubbing, removing superficial layers

Answer 49

Abrasion – scraping or rubbing, removing superficial layers

Question 50

_____ – bruise

Answer 50

Contusion – bruise

Question 51

_____ – tear by blunt impact

Answer 51

Laceration – tear by blunt impact

Question 52

_____ – inflicted by sharp force

Answer 52

Incision – inflicted by sharp force

Question 53

_____ – pointed, long narrow force _____ – pierces the tissue _____ – goes through the tissue with exit wound

Answer 53

Puncture – pointed, long narrow force Penetrating – pierces the tissue Perforating – goes through the tissue with exit wound

Question 54

Degrees of Burns First-degree – _____ involvement Second-degree – _____ and superficial _____ (both of these still allow for regeneration of skin surface) Third-degree – involve _____ tissue Fourth degree – through to _____ or _____ (both of these still allow for regeneration of skin surface)

Answer 54

Degrees of Burns First-degree – epithelial involvement Second-degree – epithelium and superficial dermis (both of these still allow for regeneration of skin surface) Third-degree – involve subcutaneous tissue Fourth degree – through to muscle or bone (both of these still allow for regeneration of skin surface)

Question 55

_____ – exogenous toxins

Answer 55

Xenobiotics – exogenous toxins

Question 56

_____ Product of sunlight driven reactions involving nitrogen oxides from predominantly automobile exhaust Cause damage by forming free radicals Combine with particles to act on epithelial cells of the _____ tract and type I _____ cells More damaging to individuals with underlying _____ pathology

Answer 56

Ozone Product of sunlight driven reactions involving nitrogen oxides from predominantly automobile exhaust Cause damage by forming free radicals Combine with particles to act on epithelial cells of the respiratory tract and type I alveolar cells More damaging to individuals with underlying lung pathology

Question 57

Innate Immunity Not specific to type of challenge Epithelial Barriers: • _____ • _____ membranes Phagocytic leukocytes: • _____ • _____/_____ _____ _____ (NK) cells Proteins of the compliment system

Answer 57

Innate Immunity Not specific to type of challenge Epithelial Barriers: • Skin • Mucous membranes Phagocytic leukocytes: • Neutrophils • Monocytes/Macrophages Natural Killer (NK) cells Proteins of the compliment system

Question 58

Adaptive Immunity Activates when processes overcome _____ immunity Is a _____ response Exists in two types: _____ immunity – antibody production (B lymphoctyes) _____-mediated or _____ immunity – T lymphocyte mediated immunity

Answer 58

Adaptive Immunity Activates when processes overcome innate immunity Is a specific response Exists in two types: Humoral immunity – antibody production (B lymphoctyes) Cell-mediated or Cellular immunity – T lymphocyte mediated immunity

Question 59

T-Cells (function) Two mechanisms of T cell function that lead to tissue injury Delayed _____: • As in Tuberculin Reaction • Persistence of the antigen leads to granulomatous inflammation Direct cell _____

Answer 59

T-Cells (function) Two mechanisms of T cell function that lead to tissue injury Delayed Hypersensitivity: • As in Tuberculin Reaction • Persistence of the antigen leads to granulomatous inflammation Direct cell cytotoxicity

Question 60

B-Cells (function) B-cells are _____, they are a type of white blood cell of the lymphocyte subtype. They function in the _____ immunity component of the adaptive immune system by _____ antibodies.

Answer 60

B-Cells (function) B-cells are lymphocytes, they are a type of white blood cell of the lymphocyte subtype. They function in the humoral immunity component of the adaptive immune system by secreting antibodies.

Question 61

Dendritic Cells (function) _____ presenting cells Interdigitating: * Found in _____ (Langerhans cells), other epithelia, interstitium of parenchymal organs, and T cell zones of lymphoid tissue * Present antigens to _____ cells Follicular: * Found in follicles of _____ tissues * Display antigens to activated _____ cells * Promote the secondary antibody responses

Answer 61

Dendritic Cells (function) Antigen presenting cells Interdigitating: * Found in epidermis (Langerhans cells), other epithelia, interstitium of parenchymal organs, and T cell zones of lymphoid tissue * Present antigens to T cells Follicular: * Found in follicles of lymphoid tissues * Display antigens to activated B cells * Promote the secondary antibody responses

Question 62

Type I Hypersensitivity Can have local reactions to allergens on _____ exposure Can have systemic *_____* to parenteral exposure to antigens (bee stings, drugs) Without intervention in system reaction – systemic _____ and subsequent _____ can development _____ – implies familial predisposition to the allergy

Answer 62

Type I Hypersensitivity Can have local reactions to allergens on surface exposure Can have systemic *anaphylaxis* to parenteral exposure to antigens (bee stings, drugs) Without intervention in system reaction – systemic vasodilation and subsequent shock can development Atopy – implies familial predisposition to the allergy

Question 63

Type II Hypersensitivity (Antibody Mediated Diseases) Goodpasture’s Syndrome Graves Disease: Results: _____ ----- Myasthenia Gravis: Antigen: _____ receptor Results: Muscle _____ and _____

Answer 63

Type II Hypersensitivity Goodpasture’s Syndrome Graves Disease: Results: antibodies against lungs kidneys ----- Myasthenia Gravis: Antigen: Acetylcholine receptor Results: Muscle weakness and paralysis

Question 64

Type III Hypersensitivity (Immune Complex Diseases) Post Streptococcal Glomerulonephritis: Antigens – _____ cell walls Clinically - _____ Systemic Lupus Erythematosus: An _____ disease. Clinically – _____ rash, photosensitivity, fever, arthritis, pleuritic chest pain, kidney signs, or neuropsychiatric signs

Answer 64

Type III Hypersensitivity (Immune Complex Diseases) Post Streptococcal Glomerulonephritis: Antigens – Streptococcal cell walls Clinically - nephritis Systemic Lupus Erythematosus: An autoimmune disease. Clinically – butterfly rash, photosensitivity, fever, arthritis, pleuritic chest pain, kidney signs, or neuropsychiatric signs

Question 65

Type IV Hypersensitivity (T-cell mediated) Type 1 Diabetes Mellitus: Antigen: pancreatic _____ _____ cells Results: _____ Multiple Sclerosis: Antigen: protein antigens of _____ myelin Results: _____, _____ Contact Dermatitis: Antigen: Environmental _____ Results: _____ (vesicular)

Answer 65

Type IV Hypersensitivity (T-cell mediated) Type 1 Diabetes Mellitus: Antigen: pancreatic islet beta cells Results: diabetes Multiple Sclerosis: Antigen: protein antigens of CNS myelin Results: Demyelination, paralysis Contact Dermatitis: Antigen: Environmental chemicals Results: Dermatitis (vesicular)

Question 66

X-linked Agammaglobulinemia (Bruton's Disease) Caused by failure of _____ cells to differentiate to _____ cells Causes: absent or few circulating _____ cells as well as deficient follicles in the lymph nodes, no plasma cells in body Typically see signs at 6 months (after regression of maternal immunity) Suffer recurrent bacterial infections; others are cleared by normal T cell functions

Answer 66

X-linked Agammaglobulinemia (Bruton's Disease) Caused by failure of pre-B cells to differentiate to B cells Causes: absent or few circulating B cells as well as deficient follicles in the lymph nodes, no plasma cells in body Typically see signs at 6 months (after regression of maternal immunity) Suffer recurrent bacterial infections; others are cleared by normal T cell functions

Question 67

_____ Syndrome Congenital defect in thymic development Have deficient T cell maturation, reduced to absent T cells in lymphoid tissues and circulation Susceptible to infections with viral, fungal, protozoan, and intracellular bacterial infections Defect in fourth pharyngeal pouches – also may have parathyroid (calcium) and other mid-line abnormalities Associated with known _____ deletion

Answer 67

DiGeorge Syndrome Congenital defect in thymic development Have deficient T cell maturation, reduced to absent T cells in lymphoid tissues and circulation Susceptible to infections with viral, fungal, protozoan, and intracellular bacterial infections Defect in fourth pharyngeal pouches – also may have parathyroid (calcium) and other mid-line abnormalities Associated with known chromosomal deletion

Question 68

AIDS: Retroviral infection – Human Immunodeficiency Virus (HIV) Causes depletion of _____ T lymphocytes (helper cells)

Answer 68

AIDS: Retroviral infection – Human Immunodeficiency Virus (HIV) Causes depletion of CD4+ T lymphocytes (helper cells)

Question 69

_____ — condition of having a diploid chromosome complement in which one (usually the X) chromosome lacks its homologous partner.

Answer 69

Monsomy — condition of having a diploid chromosome complement in which one (usually the X) chromosome lacks its homologous partner.

Question 70

_____ (Down Syndrome) — most common Autosomal cytogenetic defects Chromosome count – _____ Characteristics: Epicanthic folds; flat facial profile, mental retardation; cardiac malformations; simian crease, wide spacing of 1st/2nd toes, intestinal stenosis

Answer 70

``` Trisomy 21 (Down Syndrome) — most common Autosomal cytogenetic defects ``` Chromosome count – 471 Characteristics: Epicanthic folds; flat facial profile, mental retardation; cardiac malformations; simian crease, wide spacing of 1st/2nd toes, intestinal stenosis

Question 71

_____ — is the presence of two or more populations of cells with different genotypes in one individual, who has developed from a single fertilized egg

Answer 71

Mosaicism — is the presence of two or more populations of cells with different genotypes in one individual, who has developed from a single fertilized egg

Question 72

_____ Syndrome (Sex chromosome Defect) _____ – at least two X’s and one or more Y (47XXY) Male hypogonadism one uniform characteristic, get testicular atrophy and decreased serum testosterone, rarely are they fertile May also have: elongated body, reduced facial and body hair and gynecomastia May have mild to undetectable mental deficiencies

Answer 72

Klinefelters Syndrome (Sex chromosome Defect) Karyotype – at least two X’s and one or more Y (47XXY) Male hypogonadism one uniform characteristic, get testicular atrophy and decreased serum testosterone, rarely are they fertile May also have: elongated body, reduced facial and body hair and gynecomastia May have mild to undetectable mental deficiencies

Question 73

_____ _____ Primary hypogonadism in females Missing to partially missing X chromosome (57% are 45XO) High rate of spontaneous abortion Affected individuals: growth retardation, short stature, cystic hygroma (webbed neck), low posterior hair-line, kidney, and aortic abnormalities; failure of development of secondary sex characteristics, primary amenorrhea, “streak ovaries”, infertility, usually normal mental status (disproved Lyon hypothesis)

Answer 73

Turners Syndrome Primary hypogonadism in females Missing to partially missing X chromosome (57% are 45XO) High rate of spontaneous abortion Affected individuals: growth retardation, short stature, cystic hygroma (webbed neck), low posterior hair-line, kidney, and aortic abnormalities; failure of development of secondary sex characteristics, primary amenorrhea, “streak ovaries”, infertility, usually normal mental status (disproved Lyon hypothesis)

Question 74

_____ — having supernumerary fingers or toes _____ — a condition wherein two or more digits are fused together

Answer 74

Polydactyly — having supernumerary fingers or toes Syndactyly — a condition wherein two or more digits are fused together

Question 75

_____ — a cephalic disorder in which the prosencephalon (the forebrain of the embryo) fails to develop into two hemispheres

Answer 75

Cyclops/holoprosencephaly — a cephalic disorder in which the prosencephalon (the forebrain of the embryo) fails to develop into two hemispheres

Question 76

TORCH (what it stands for) (Prenatal infections) TORCH – _____, _____, _____, _____, _____

Answer 76

TORCH (what it stands for) (Prenatal infections) TORCH – toxoplasmosis, other microbes, rubella, cytomegalovirus, herpesvirus,

Question 77

Potters Sequence — the atypical physical appearance of a baby due to oligohydramnios experienced when in the uterus. Oligohydramnios is the decrease in _____ _____ volume sufficient to cause deformations in morphogenesis of the fetus. (Sequence anomalies = multiple anomalies that result secondarily from one localized problem ) ``` _____ / _____ _____ _____ _____ _____ _____ _____ ```

Answer 77

Potters Sequence — the atypical physical appearance of a baby due to oligohydramnios experienced when in the uterus. Oligohydramnios is the decrease in amniotic fluid volume sufficient to cause deformations in morphogenesis of the fetus. (Sequence anomalies = multiple anomalies that result secondarily from one localized problem) ``` Oligo/anhydramnios Flattened facies Contractures Dislocated hips Pulmonary hypoplasia ```

Question 78

_____ _____ Disease Neonatal _____ distress syndrome Other causes: excessive sedation of mother, fetal head injury, aspiration of blood or amniotic fluid, intrauterine hypoxia (cord accidents) Results from insufficient surfactant

Answer 78

Hyaline Membrane Disease Neonatal respiratory distress syndrome Other causes: excessive sedation of mother, fetal head injury, aspiration of blood or amniotic fluid, intrauterine hypoxia (cord accidents) Results from insufficient surfactant

Question 79

_____ _____ Involves intestinal ischemia: • Hypoperfusion or • Diversion of blood to other vital organs Intestinal colonization of the gut: • Aggravates gut Formula feeds: • Aggravates gut

Answer 79

Necrotizing Enterocolitis Involves intestinal ischemia: • Hypoperfusion or • Diversion of blood to other vital organs Intestinal colonization of the gut: • Aggravates gut Formula feeds: • Aggravates gut

Question 80

Fetal _____ Accumulation of fluid during uterine growth Can by immune or non-immune Immune: Antibody induced _____ _____ of the newborn --- Non-immune: _____ Defects: Structural or functional (arrhythmias) _____ abnormalities: Turner/Trisomy 21 and 18 Fetal _____: Genetic anemias/twin to twin transfusion syndrome

Answer 80

Fetal Hydrops Accumulation of fluid during uterine growth Can by immune or non-immune Immune: Antibody induced hemolytic disease of the newborn --- Non-immune: Cardiac Defects: Structural or functional (arrhythmias) Chromosomal abnormalities: Turner/Trisomy 21 and 18 Fetal anemia: Genetic anemias/twin to twin transfusion syndrome

Question 81

_____ — pediatric tumor, excessive, focal overgrowth of tissue native to the organ

Answer 81

Hamartoma — pediatric tumor, excessive, focal overgrowth of tissue native to the organ

Question 82

_____ Most common tumors of infancy Most found in the skin Many spontaneously regress

Answer 82

Hemangioma Most common tumors of infancy Most found in the skin Many spontaneously regress

Question 83

_____ Tumor Also called nephroblastoma Most occur between 2 and 5 years of age Patients usually present with symptoms from tumors large size Prognosis is often very good Cytology of tumor can be a good predictor

Answer 83

Wilms Tumor Also called nephroblastoma Most occur between 2 and 5 years of age Patients usually present with symptoms from tumors large size Prognosis is often very good Cytology of tumor can be a good predictor

Question 84

!!!!! I didn't make a flashcard for: 3 Types of Mendelian Inheritance Patterns and examples of each (Which disease is which type of inheritance/not individual features of disease) ``` Autosomal dominant: Familial hypercholesterolemia Polycystic kidney disease Huntington Disease Marfan Syndrome ``` Autosomal recessive: Cystic fibrosis Phenylketonuria Sickle Cell anemia ``` X-linked: Hemophilia A and B Duchenne muscular dystrophy X-linked agammaglobulinemia Diabetes insipidus Fragile X syndrome ```

Answer 84

!!!!! I didn't make a flashcard for: 3 Types of Mendelian Inheritance Patterns and examples of each (Which disease is which type of inheritance/not individual features of disease) ``` Autosomal dominant: Familial hypercholesterolemia Polycystic kidney disease Huntington Disease Marfan Syndrome ``` Autosomal recessive: Cystic fibrosis Phenylketonuria Sickle Cell anemia ``` X-linked: Hemophilia A and B Duchenne muscular dystrophy X-linked agammaglobulinemia Diabetes insipidus Fragile X syndrome ```