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Biology Of Disease > Unit 2 > Flashcards

Unit 2 Flashcards

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1
Q

Congenital Defect

A

a defect present at birth

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2
Q

Hereditary Defect

A

A defect that has a genetic basis and transmitted thru the germ line

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3
Q

Genetic Disease Etiology

A

Arise from a mutation, or permanent change in DNA

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4
Q

Classification of Genetic Disorders

A

Single Gene
Chromosomal Disorders
Complex Multigenic

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5
Q

Single Gene Disorder Penetrance

A

High

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6
Q

Chromosomal Disorders

A

alterations in autosomes or sex chromosomes

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7
Q

Point Mutation

A

Single base substituted with a different base

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8
Q

Frameshift mutation

A

Addition or deletion of a nucleotide

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9
Q

Trinucleotide Repeat

A

Amplification of a set of three bases

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10
Q

Classic Example of Point Mutation

A

Sickle cell disease

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11
Q

Trinucleotide Repeat Threshold

A

The number of repeats at a locus that yields a pathology, and below which does not cause symptoms

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12
Q

Single Gene Disorder Transmission Patterns

A

Autosomal Dominant
Autosomal Recessive
X Linked
Mitochondrial?

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13
Q

Autosomal Dominant Disorder Specific Example

A

Marfan Syndrome

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14
Q

Marfan Syndrome Molecular Pathology

A

Defect in fibrillin of elastic fibers

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15
Q

Autosomal Recessive Disorder Categorical Example

A

Almost all inborn errors of metabolism

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16
Q

Autosomal Recessive Disorder Etiology

A

Both alleles must be mutated

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17
Q

Autosomal Recessive Disorder Specific Example

A

Cystic Fibrosis

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18
Q

Cystic Fibrosis Molecular Pathology

A

Defect in CTFR protein

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19
Q

X Linked Disorders Dominant or Recessive?

A

Recessive

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20
Q

X Linked Disorder Specific Example

A

Fragile x syndrome

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21
Q

Mitochondrial Disorder Inheritance Pattern

A

Completetly maternal

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22
Q

Structural Chromosome Abnormalities

A

Isochromosome
Deletion
Translocation

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23
Q

Karyotype Advantage

A

Global strategy

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24
Q

Karyotype Disadvantage

A

Requires fresh frozen tissue

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25
Q

Pediatric patients are more susceptible to which broad category of disease?

A

Infection

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26
Q

Major Differences in Pediatric Physiology

A

Smaller airways and blood vessels
Less efficient immune system
Fewer antibodies

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27
Q

Embryonic Period

A

0 to 9 weeks

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28
Q

Fetal Period

A

Greater than 9 weeks

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29
Q

Major Event in Embryonic Period

A

Formation and differentiation of structures

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30
Q

Congenital Malformation

A

Abnormality of morphogenesis due to an intrinsic problem within the developing structure

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31
Q

Congenital Deformation

A

Abnormality of morphogenesis due to extrinsic forces on a normally developing structure

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32
Q

Congenital Malformation Example

A

Cleft Palate

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33
Q

Congenital Deformation Example

A

Clubfoot

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34
Q

Congenital Disruption Definition

A

Destructive force acting upon an otherwise normal developing structure

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35
Q

Congenital Disruption Example

A

Amniotic banding

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36
Q

How many births with some kind of malformation, disruption, or deformation

A

About 3%

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37
Q

Percentage of malformations due to teratogenic exposure

A

About 1%

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38
Q

Two Mechanisms of Perinatal Infection

A

Ascending
Transplacental

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39
Q

Ascending or Transcervical Infection Etiology

A

From vaginal flora through cervix
Usually a problem at or near delivery
Usually bacterial

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40
Q

Transplacental Infection Etiology

A

Spread from maternal blood to fetus

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41
Q

Common Transplacental Infections

A

Toxoplasmosis
Rubella
CMV
Herpes, Hep B, HIV
Syphilis

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42
Q

Normal Birth Weight

A

More than 2500g or 5.5lbs

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43
Q

Low Birth Weight

A

Less than 2500g or 5.5lbs

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44
Q

Very Low Birth Weight

A

Under 1500g or 3.3lbs

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45
Q

Prematurity

A

Birth before 37 weeks

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46
Q

Small for Gestational Age

A

Less than 10th percentile for gestational age in the absence of pathology

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47
Q

Intrauterine Growth Restriction

A

In utero size less than 10th percentile for gestational age

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48
Q

Fetal growth restriction often leads to what?

A

Cerebral disfunction, learning disabilities, sensory disabilities

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49
Q

Percentage of Newborns Born with IRDS

A

60% at under 28 wks
15% to 20% at between 32 to 36 wks
Less than 5% at greater than 37 wks

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50
Q

Two Main Complications of Oxygen Toxicity in Treating IRDS

A

Retinopathy of prematurity
Bronchopulmonary Dysplasia

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51
Q

SIDS Ages Range

A

Between 2 to 4 months of age

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52
Q

Fetal Hydrops Etiology

A

Fetal anemia leads to increase in maternal fluids to supply more oxygen witch leads to fetal edema

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53
Q

Fetal Hydrops Categories

A

Immune
Non immune

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54
Q

Immune Fetal Hydrops

A

Antibody induced hemolytic disease of newborn

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55
Q

Immune Fetal Hydrops Etiology

A

Maternal anti D IgG in response to D+ fetal blood between Rh- mom and Rh+ baby in the second pregnancy

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56
Q

Nonimmune Fetal Hydrops Cause

A

Cardiovascular defects

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57
Q

Nonimmune Nonstructural Causes of Fetal Anemia

A

Homozygous alpha thalassemia
Parvovirus B19 infection

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58
Q

Childhood tumors are often associated with what?

A

Genetic syndromes

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59
Q

Tumor like Lesion

A

An abnormal collection of tissue with limited growth potential

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60
Q

Hamartoma

A

Focal and benign overgrowth of cells that are native to the organ site

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61
Q

Heterotopia

A

Growth of cells that are NOT native to the organ site

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62
Q

Most Common Benign Childhood Tumors

A

Hemangioma
Lymphangioma
Sacrococcygeal Teratoma

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63
Q

Hemangioma

A

Benign tumor of the capillaries, often congenital and on the skin and that regresses with age

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64
Q

Lymphangioma

A

Benign tumor of lymphatics, most commonly found in the neck and axilla and associated with turner syndrome

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65
Q

Sacrococcygeal Teratoma

A

Tumor of primitive cells, usually with different histological types reflecting all three germ layers

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66
Q

General Fact About Malignant Tumors of Childhood

A

Derived from the tissues or cells that are actively growing like bone marrow, soft tissue, and brain

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67
Q

Most Common Pediatric Malignant Neoplasm

A

Leukemia

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68
Q

Neuroblastoma

A

Malignant tumor of the cells of the sympathetic nervous system, often presents in the adrenal gland

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69
Q

Second Most Common Pediatric Malignant Neoplasm

A

Neuroblastoma

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70
Q

Neuroblastoma Prognosis Age

A

Best under 12 months

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71
Q

Neurblastoma General Prognosis

A

Tendency to spread widely, but patients tend to do well

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72
Q

Retinoblastoma Clinical Presentation

A

Poor vision, strabismus, leukocoria, pain, and tenderness

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73
Q

Retinoblastoma Median Age of Presentation

A

2 years old

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74
Q

Retinoblastoma increases the risk of what other cancer?

A

Osteosarcoma

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75
Q

Most Common Primary Kidney Tumor of Childhood

A

Wilms Tumor

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76
Q

Wilms Tumor Clinical Presentation

A

Flank pain, pelvic pain, hematuria, palpable abdominal mass

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77
Q

WAGR Syndrome

A

Wilms Tumor
Aniridia
Genitourinary Anomalies
mental Retardation

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78
Q

Denys Drash Syndrome

A

Wilms Tumor
Gonadal Dysgenesis
Renal Abnormalities

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79
Q

Beckwith Wiedemann Syndrome

A

Organomegaly
Gigantism
Risk for a bunch of tumors

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80
Q

Neoplasia

A

Overgrowth of tissue that is autonomous and clonal, or arising from a single cell

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81
Q

Two Major Types of Neoplasms

A

Benign
Malignant

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82
Q

Benign Neoplasm

A

Clinically innocuous tumors

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83
Q

Malignant Neoplasm

A

Demonstrates invasion or metastasis or both, and a wide range of clinical severity

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84
Q

Benign Neoplasm Suffix

A

oma

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85
Q

Choristoma

A

Proliferation of one or more tissue types not usually seen in site of origin

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86
Q

Neoplastic Differentiation

A

Extent to which tumor microscopically resembles the tissue of origin

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87
Q

Anaplasia

A

Extreme degree of undifferentiation and looks NOTHING LIKE the tissue of origin

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88
Q

Carcinoma

A

Malignant neoplasm arising from epithelial tissue

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89
Q

Sarcoma

A

Malignant neoplasm arising from mesenchymal, or connective, tissue

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90
Q

Carcinosarcoma

A

Malignant neoplasm with both epithelial and mesenchymal elements

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91
Q

Biological Hallmark of Malignant Tumors

A

Invasion of adjacent tissue

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92
Q

Metastasis

A

Spread of tumor to physically discontinuous site

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93
Q

Lymphatic Metastasis

A

Spread of neoplasm to regional lymph nodes, preferred by carcinomas

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94
Q

Hematogenuous Metastasis

A

Spread of neoplasm via blood vessels usually to distant sites, preferred by sarcomas

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95
Q

Most Common Site of Hematogenous Metastasis

A

Liver

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96
Q

Body Cavity Metastasis

A

Spread of neoplasm throughout a body cavity

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97
Q

In Situ Tumors

A

Tumors composed of malignant cells but have not shown invasive behavior

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98
Q

What is the Second Leading Cause of Death in the United States

A

Cancer

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99
Q

How many deaths of cancer per year

A

600,000

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100
Q

How many new cases of cancer per year

A

1.8 million

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101
Q

Most Common Cancer that Causes Death

A

Lung

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102
Q

Four Most Common Types of Cancer in Children

A

Leukemia
Brain
Bone and Soft Tissue
Lymphoma

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103
Q

All carcinogens cause cancer through this general mechanism.

A

Interaction with the nuclear DNA of the cell

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104
Q

Geographic Variation Prevalence of These Cancers

A

Gastric Carcinoma
Hepatocellular Carcinoma
Insular Thyroid Carcinoma

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105
Q

Common Occupational Carcinogens

A

Asbestos
Radon
Benzene
Arsenic
Formaldehyde

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106
Q

Common Infectious Carcinogens

A

HPV
EBV

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107
Q

Common Cancers Driven by Hormonal Manipulation

A

Endometrial
Breast
Prostate
Thyroid

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108
Q

Common Noninfectious Medical Carcinogens

A

Liver Cirrhosis
Atrophic Gastritis
Pagets Disease of Bone
Familiar Adenomatous Polyposis
Ulcerative Colitis
Barrett Esophagus

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109
Q

Common Cancer Genes

A

BRCA –> Breast and Ovarian
MEN –> Multiple Endocrine Neoplasia
RB –> Retinoblastoma

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110
Q

Oncogenes

A

Genes that promote cell growth

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111
Q

Proto oncogenes

A

Normal gene from which oncogenes arise

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112
Q

Tumor Suppressor Genes

A

Slow or prevent tumor growth and mutation decreases activity

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113
Q

Driver Genes

A

Directly affect function of a gene

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114
Q

Passenger Mutations

A

Do not directly contribute to carcinogenesis but are more numerous than driver genes, present in specific patterns that identifies a carcinogen, and may impact response to therapy

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115
Q

Chromosomal Translocations

A

Where a piece of one chromosome switches places with a piece of another chromosome

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116
Q

Chromosomal Deletion

A

Loss of a part of a chromosome

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117
Q

Aneuploidy

A

Alteration in the number of chromosomes in a cell

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118
Q

Growth Self Sufficiency

A

Cancer cells make their own growth factors, regulate their own growth factor receptors like EGFR and HER2, and regulate their own transcription factors

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119
Q

Insensitivity to Growth Inhibiting Factors

A

Loss of cell cycle control and mutation of TP53 gene that inhibits tumor growth

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120
Q

Altered Cell Metabolism of Tumor Cells

A

Tumor cells produce ATP thru aerobic glycolysis, which generates ATP and metabolic growth intermediates

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121
Q

Evasion of Apoptosis

A

Inhibition of intrinsic, mitochondrial apoptosis mechanism

122
Q

Evasion of Apoptosis Molecular Biology

A

Loss of P53
Increase in MDM2
Decreased mitochondrial release of cytochrome C
Decreased caspase activity

123
Q

Unlimited Replication Potential

A

Cancer cells can replicate indefinitely and are insensitive to aging factors

124
Q

Sustained Angiogenesis

A

Malignant tumors generate their own blood supply

125
Q

Tissue Invasion Mechanisms

A

Loosening connections between cells
Degradation of basement membrane
Locomotion

126
Q

Evasion of Immune System

A

Tumor cells can escape cytotoxic T lymphocytes

127
Q

Mechanisms of Immune Evasion

A

Alteration of antigenic expression, like high expressions of proteins that inactivate cytotoxic T lymphocytes like PD L1

128
Q

Cachexia

A

Loss of body fat and body mass in cancer patients and NOT related to the calorie demands of the tumor

129
Q

Paraneoplastic Syndrome

A

Clinical sign or symptom associated with malignancy but not directly associated with the tumor

130
Q

Most Common Paraneoplastic Syndrome

A

Cancer Hypercalcemia
Ectopic Hormone Secretion by Tumor
Hypercoagulability

131
Q

Most Common Ectopic Hormone Secretion in Cancer

A

ACTH secretion by small cell lung carcinoma

132
Q

Cancer Grading

A

Microscopic assessment of the degree of differentiation of a cancer

133
Q

Staging Cancer

A

Clinical, gross, and microscopic assessment of the extent of invasion and metastasis of cancer

134
Q

High Grade Neoplasm

A

Poorly differentiated, looks NOTHING like the tissue of origin

135
Q

Low Grade Tumor

A

Highly differentiated, looks VERY MUCH like the tissue of origin

136
Q

Defined Grading Criteria

A

Gleason for Prostate
FIGO System for Endometrium
Nottingham System for Breast
Fuhrman System for Kidney

137
Q

TNM Staging System

A

T tumor invasion
N lymph node metastasis
M extent of distant metastasis

138
Q

T Stages

A

T1, T2, T3, or T4

139
Q

N Stages

A

NX, N0, N1, N2, or N3

140
Q

M Stages

A

M0 or M1

141
Q

NX Meaning

A

No information on lymph node metastasis

142
Q

Diagnostic Serum Markers for Cancer

A

CEA for Colon
PSA for Prostate
CA125 for Ovary
HCG and AFP for Germ Cells

143
Q

Gold Standard of Cancer Diagnosis

A

Biopsy and pathologic diagnosis

144
Q

Biopsy Cytology Techniques

A

Fine needle aspiration
Scrapes

145
Q

Tissue Biopsy Techniques

A

Core needle
Endoscopic
Incisional
Excisional

146
Q

FISH Testing

A

Fluorescent in situ hybridization

147
Q

Primary Malnutrition

A

one or all dietary components missing

148
Q

Secondary Malnutrition

A

Adequate dietary intake but impaired absorption or increased use due to disease

149
Q

Which vitamins are stored in the body?

A

Fat soluble vitamins A, D, E, and K

150
Q

Which vitamins are eliminated in the urine?

A

Water soluble vitamins

151
Q

Causes of Dietary Insufficiency

A

Poor diet
Poverty
Chronic alcoholism
Illness
Self imposed diet restriction

152
Q

Severe Acute Malnutrition Criteria

A

Weight to hight ratio less than 35
Mid upper arm circumference less than 115 mm
Edema of both feet

153
Q

Where is protein lost in severe acute malnutrition

A

Somatic
Skeletal muscle

154
Q

Marasmus

A

Severe calorie depletion

155
Q

Kwashiorkor

A

Protein deprivation in a normal calorie range, characterized by loss of serum protein

156
Q

Causes of Secondary Malnutrition

A

Chronic Illness
Cachexia
Infections Like HIV Lipodystrophy

157
Q

Vitamin C Deficiency Symptoms

A

Wounds won’t heal
Lethargy
Bleeding Gums

158
Q

Thiamin Vitamin B1 Deficiency

A

Wet beriberi and dry beriberi

159
Q

Wet Beriberi

A

Associated with the heart and vascular system and leads to dilated cardiomyopathy

160
Q

Dry Beriberi

A

Associated with the nervous system, think about Wernicke Korsakoff Syndrome and chronic alcohol misuse

161
Q

Vitamin C Functions

A

Collagen Synthesis
Antioxidant Properties
Iron Uptake

162
Q

B12 Deficiency

A

Associated with pernicious anemia, an inherited lack of intrinsic factor

163
Q

Niacin Deficiency Symptoms

A

Dermatitis
Diarrhea
Dementia
Death

164
Q

Vitamin A Names

A

Retinol, retinal, retinoic acid

165
Q

Vitamin A Function

A

Vision
Differentiation of mucus cells
Lipid Metabolism

166
Q

Vitamin A Deficiency

A

Night Blindness
Dry Eye
Cornea Changes
Infection
Squamous Metaplasia

167
Q

Vitamin A Toxicity

A

Headache
Blurred Vision
Mental Status Changes
Chronic Weight Loss

168
Q

Vitamin D Names

A

Cholecalciferol

169
Q

Vitamin D Functions

A

Calcium and phosphorus metabolism

170
Q

Pediatric Vitamin D Deficiency

A

Rickets, or excess unmineralized bone

171
Q

Normal BMI

A

18.5 to 25

172
Q

Overweight BMI

A

25 to 30

173
Q

Obese BMI

A

Over 30

174
Q

Adipocyte Hormones

A

Leptin decreases appetite
Adiponectin alters fatty acid metabolism

175
Q

Ghrelin Function

A

Stimulates appetite through hypothalamus

176
Q

Peptide YY Function

A

Decrease appetite and promotes satiety by stimulating the hypothalamus

177
Q

Are most toxins lipophilic or hydrophilic

A

Lipophilic

178
Q

Phase 1 Drug Metabolism

A

Action of cytochrome P450 converts drugs to water soluble forms and makes them useable or unusable

179
Q

Phase 2 Drug Metabolism

A

Additional modifications like through the kidneys

180
Q

Common Air Pollutants

A

Ozone
Sulfur Dioxide
Acid Aerosols
Particulates

181
Q

Common Indoor Air Pollutants

A

Asbestos
Radon

182
Q

Pathophysiology of Air Pollutant Damage

A

Free radical damage and inflammation

183
Q

EPA Monitors These Chemicals

A

Sulfur Dioxide
CO2
Ozone
Nitrogen Dioxide
Lead
Particulates

184
Q

Sulfur Dioxide is produced from where?

A

Coal Plants

185
Q

Particulate Matter Length Measurement

A

Under 10 microns

186
Q

Heavy Metal Toxins

A

Lead
Arsenic
Lead
Mercury
Thallium

187
Q

Common place to find arsenic

A

Rat poison

188
Q

Thallium Toxicity Big Clue

A

Sudden hair loss and neurological disfunction

189
Q

Lead Poisoning Pathophysiology

A

Bind to sulfhydryl groups of proteins and impacts calcium metabolism

190
Q

Diagnostic Lab Tests for Lead

A

Elevated blood lead levels
Elevated RBC free protoporphyrin
Elevated zinc protoporphyrin

191
Q

When can heavy metals cause the most damage in utero

A

3 to 8 weeks

192
Q

Industrial and Agricultural Toxins

A

Organic Solvents
Polycyclic Hydrocarbons
Organochlorines
Vinyl Chloride
Formaldehyde

193
Q

How many deaths per year caused by tobacco?

A

400k in the united states
Between 4 and 8 million worldwide

194
Q

Common cancers related to tobacco use

A

Lung, head and neck, pancreas, bladder, esophagus

195
Q

Blood Marker of Tobacco Use

A

Cotinine

196
Q

Common drugs that interfere with other drugs

A

Chemotherapies
Tetracyclines
Female Hormone Therapy
NSAIDS

197
Q

Major risks for NSAID usage

A

Liver damage

198
Q

Aspirin Use Risks

A

Metabolic Acidosis
Bleeding
Gastric Ulcers

199
Q

Key Number for Burn Fatality

A

More than 50% of the body

200
Q

Rule for tissues most susceptible to radiation injury

A

Tissue that divides the most

201
Q

Infectious Disease Global Impact

A

Less common in the United States but more common in developing nations

202
Q

Opportunistic Infection Definition

A

Infections most common in immunocompromised people

203
Q

Categories of Infectious Agents

A

Prion
Virus
Bacteria
Parasite
Fungi
Protozoa
Ectoparasites

204
Q

Gram Positive Bacteria

A

Thick cell wall that retains crystal violet stain

205
Q

Gram Negative Bacteria

A

Thin cell wall that does not retain crystal violet stain

206
Q

Mycoplasma Bacteria

A

No cell wall

207
Q

Skin Conditions that Predispose to Infection

A

Wet skin
Disrupted Skin
Damaged Skin

208
Q

Which bacteria inhibit phagocytosis by lung macrophage?

A

Mycobacteria

209
Q

Immunoglobulin Secreted by Intestinal Mucosa

A

IgA

210
Q

Spread of Infectious Organisms Within the Body

A

Local
Lymphatic
Hematogenous
Neural

211
Q

Viruses that spread neurally

A

Rabies
Varicella zoster
herpes

212
Q

Categories of Hematogenous Spread

A

Through the blood
Through the peritoneum

213
Q

Transmission of Infectious Agents

A

Fecal oral
Respiratory
Bloodborne
Sexual
Vector Transmission
Zoonitic

214
Q

Virus Size

A

20 to 30 nm

215
Q

HPV Subtypes that Cause Cancer

A

HPV 16 and 18

216
Q

Mycoplasma Bacteria Examples

A

Chlamydiae
Rickettsiae
Mycoplasma

217
Q

Mycoplasma Distinction

A

No cell wall

218
Q

Pyogenic Cocci

A

Staph
Strep
Pneumococcus
Neiserria menigitidis
Gonorrhea

219
Q

Gram Negative Bacteria Examples

A

E coli
Klebselia

220
Q

Pediatric Bacterial Infections

A

Hemophilus influenzae

221
Q

Enteric Bacterial Infections

A

Salmonella
E coli
Helicobacter pilori
Vibrio cholerae

222
Q

Treatment for Helicobacter

A

Macrolides

223
Q

Clostridial Bacteria Infections

A

Tetanus
Botulism
Gas gangrene
C diff diarrhea

224
Q

Mycobacteria Infections

A

TB
Leprosy

225
Q

TB Treatment

A

Isoniazid Rifampin Pyrazinamide

226
Q

Leprosy Treatment

A

Dapsone and Rifampin

227
Q

Two Forms of Fungi

A

Yeasts
Hyphae

228
Q

Antifungal Agents

A

Imidazoles and Triazoles
Nystatin
Amphotericin B

229
Q

Protozoa

A

Single celled, motile parasites that cause skin, lymph, and blood infections

230
Q

Helminths

A

Roundworms
Tapeworms
Flatworms
Flukes

231
Q

Pinworm

A

Intestinal or anal parasite

232
Q

Strongyloides

A

Large intestinal roundworm

233
Q

Tapeworm

A

Intestinal parasites

234
Q

Schistosomes

A

Blood flukes, ova seen in intestine or urinary bladder

235
Q

Ectoparasites

A

Arthropod parasites that attach to skin

236
Q

Mechanisms of Infectious Disease Causation

A

Direct invasion and injury to cells
Release of toxins
Induction of injurious immune response
Suppression of immune response

237
Q

Viral Tropism

A

Specific viruses seek out specific cells and tissues

238
Q

Bacteria usually impact what type of tissue?

A

Wet tissue

239
Q

Bacterial Cell Injury

A

Direct invasion or injury of cells
Toxin Production
Host Response

240
Q

Bacterial Endotoxin Molecule

A

Heat stable lipopolysaccharides

241
Q

Bacterial Endotoxin Location

A

Bacterial cell wall

242
Q

Bacterial Exotoxin Molecule

A

Heat labile proteins

243
Q

Classic Exotoxin Examples

A

Tetanus
Botulism
Cholera toxin

244
Q

Bacterial Exotoxin Location

A

Secreted by the bacteria

245
Q

Bacterial Enzyme Location

A

Secreted by the bacteria

246
Q

Bacterial Enzyme Function

A

Aides in local spread of bacteria by breaking down connective tissue and inhibiting clot

247
Q

Microbial Immune Defense

A

Cleaves antibodies with enzymes
Resist complement lysis
Resisting phagocytosis
Rapidly changing antigenic makeup
Direct damage to immune cells

248
Q

Bacteria that hide antigens

A

E coli
Klebsiella

249
Q

Bacteria that resist phagocytosis

A

Mycobacteria

250
Q

Mechanisms of Infection Diagnosis

A

Direct microscopy
Culture
PCR and other genetic testing

251
Q

Methods of Bacterial Identification

A

Gram Stain
Hemolysis pattern
Biochemical Tests
Serotype Antigen Identification

252
Q

Special Considerations for Mycobacteria Testing

A

Acid Fast or Fluorescent stains
Special Cultures that take a long time
PCR

253
Q

Fungus Identification Techniques

A

In tissue or cytology specimens
Culture
Histology and staining

254
Q

Fungal Stains

A

H&E
Silver
PAS Stain
Mucin stain
KOH Prep

255
Q

Viral Identification Techniques

A

PCR
Serology
Special culture
Microscopy of viral cytological impact

256
Q

Parasite Identification Techniques

A

Direct Identification
NO CULTURE

257
Q

Parasite Stains

A

Iodine Stool Stain
Trichrome Stool Stain
Wright Blood Stain
H&E, Giemsa, or Silver Tissue Stain

258
Q

Genetic Heterogeneity

A

Mutations at different loci can lead to the same clinical presentation

259
Q

Anticipation

A

Symptoms get worse or present earlier in each subsequent generation

260
Q

Nonsense Mutation

A

Premature stop codon

261
Q

Metabolic diseases usually present in this population.

A

Pediatric

262
Q

Autosomal dominant disorders disrupt what sort of protein?

A

Structural proteins

263
Q

Type of genetic disorder that can present with new onset

A

Autosomal dominant

264
Q

EDS Inheritance Pattern

A

Dominant OR Recessive

265
Q

Autosomal recessive disorders disrupt what sort of protein?

A

Enzymes

266
Q

PKU Mnemonic

A

1/3 can’t walk 2/3 can’t talk

267
Q

PKU Molecular Biology

A

Inability to metabolize phenylalanine into tyrosine

268
Q

PKU Treatment

A

Phenylalanine free diet

269
Q

Three Major Features of AKU

A

Dark Urine
Dark cartilage
Tendon Rupture
Arthritis

270
Q

AKU Molecular Biology

A

Deficiency in homogentisic dioxygenase, where homogentisic acid degenerates into a black pigment called alkaptan

271
Q

Tyrosinemia Molecular Biology

A

Deficiency in funarylacetoacetate hydrolase so cannot metabolize tyrosine

272
Q

Tyrosenemia Treatment

A

Dietary restriction
nitisinone

273
Q

Galactosemia Molecular Biology

A

Enzyme deficiency leads to buildup of galactose in the eyes and liver

274
Q

Galactosemia Treatment

A

Remove galactose from the diet in the first two years of life

275
Q

Common features of lysosomal storage diseases

A

Hepatosplenomegaly
CNS Involvement

276
Q

Tay Sachs Disease Enzyme Deficiency

A

Hexosaminidase A

277
Q

Tay Sachs Molecular Biology

A

Ganglioside accumulation in CNS and peripheral ganglia

278
Q

Tay Sachs Classic Signs

A

Cherry red spot on retina
NO Hepatosplenomegaly

279
Q

Niemann Pick Disease Classic Sign

A

Massive visceromegaly

280
Q

Niemann Pick Disease Classic Electron Microscopy Sign

A

Zebra Body

281
Q

Gaucher Disease Molecular Biology

A

Glucocerebrosidase deficiency

282
Q

Gaucher Disease Light Microscopy Sign

A

Wrinkled tissue paper cells

283
Q

Gaucher Disease Classic Sign

A

20 fold higher risk of Parkinson’s disease

284
Q

Niemann Pick Light Microscopy Sign

A

Foamy cells

285
Q

Mucopolysaccharidoses Molecular Biology

A

Deficiency in hydrolase enzymes which catabolize mucopolysaccharides

286
Q

Mucopolysaccharidoses Examples

A

Hunter Syndrome
Hurler Syndrome

287
Q

Hunter Syndrome Signs and Symptoms

A

Course face
Mild boney abnormalities
NO corneal clouding

288
Q

Hurler Syndrome Signs and Symptoms

A

Cardiac Issues
Course face
Corneal clouding
Dwarfism

289
Q

Glycogen Storage Disease Examples

A

Von Gierke
McArdle
Pompe
Brancher Glycogenosis

290
Q

Von Gierke Organ Impact

A

Liver

291
Q

McArdle Organ Impact

A

Skeletal muscle

292
Q

Pompe Organ Impact

A

Heart and liver

293
Q

Brancher Glycogenosis Organ Impact

A

Heart, liver, muscles

294
Q

Triple Repeat Disorders

A

Huntingtons
Fragile X
Myotonic Dystrophy

295
Q

Fragile X Syndrome Symptoms

A

Mental retardation
Large Testis
Neurodegenerative Disorders

296
Q

Niemann Pick Molecular Biology

A

Sphingomyelinase Deficiency

297
Q

Tyrosinemia Inheritance Pattern

A

Autosomal recessive

298
Q

Tyrosinemia Occurence

A

1 in 100,000

299
Q

Von Gierke Enzyme Deficiency

A

G6P

300
Q

McArdle Disease Enzyme Deficiency

A

Muscle Phosphorylase

301
Q

Pompe Disease Enzyme Deficiency

A

Lysosomal Maltase

302
Q

Brancher Glycogenosis Enzyme Deficiency

A

Glycogen Branching Enzyme

Biology Of Disease (5 decks)

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