Clinical Pathology III Flashcards

(96 cards)

1
Q

What is the most common TORCH disease in the United States?

A

CMV - Cytomegalovirus

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2
Q

What type of organism is toxoplasma?

A

Protozoan parasite

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3
Q

What is the definitive host of Toxoplasma?

A

Cat

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4
Q

How is Toxoplasma spread from the mother to the fetus?

A

Transplacentally

*after fecal exposure

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5
Q

TORCH

A

T - Toxoplasma

O - Other

R - Rubella

C - Cytomegalovirus (type of herpes virus)

H - Herpes

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6
Q

What are 4 “Others” in TORCH?

A

Syphilis

Varicella

HIV

HBV

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7
Q

What is the grouped term for pathogens causing Vertically Transmitted Infections?

A

TORCH

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8
Q

What type of virus is Rubella?

What is another name for
Rubella?

A

Toga

German measles

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9
Q

Which TORCH has the characteristic of basophilic nuclear inclusion bodies?

A

CMV

cytomegalovirus

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10
Q

5 features of Syphilis:

A

Spirochete

Transferred to fetus after 3rd month of pregnancy

Perinatal and Infantile Syphilis

Lesions contain Spirochetes

Osteochondritis/Periostitis (Saddle nose/Saber Shin)

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11
Q

What are 2 features of Perinatal and Infantile Syphilis?

A

Diffuse rash with bullae

Epithelial sloughing on Palms and Soles

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12
Q

What type of bacteria is Syphilis?

A

Spirochete

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13
Q

Infantile Syphilis causes Liver, Lung, and _____ fibrosis due to ______ formation.

A

Heart

Gumma

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14
Q

What is the Granuloma (soft non-cancerous growth) resulting from either Perinatal or Tertiary Syphilis?

A

Gumma

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15
Q

What are 2 gross-level consequences of a Perinatal Syphilitic infection?

A

Gumma

Hutchinson’s Teeth

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16
Q

Describe Hutchinson’s Teeth:

A

Spaced, peg-like, scalloped teeth

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17
Q

Late occurring Congenital Syphilis is characterized by what 3 symptoms?

A

Interstitial Keratitis

Hutchinson’s Teeth

8th Nerve deafness (Vestibulocochlear)

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18
Q

4 Routes of CMV transmission:

A

Vertical: Birth Canal/Mother’s Milk

Sex

Body fluids (urine, saliva, breast milk, semen, vaginal secretion)

Blood transfusions/organ transplants

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19
Q

What is the most characteristic finding of Congenital Toxoplasma?

*either radiographically, autopsy, or CT

A

Intercranial calcifications

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20
Q

What are 3 organs affected by Congenital Rubella Syndrome?

A

Heart

Eyes

Brain

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21
Q

What is the heart defect seen in Congenital Rubella Syndrome called?

A

Patent Ductus Arteriosis (PDA)

*ductus arteriosis fails to close after birth

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22
Q

How are the eyes affected by Congenital Rubella Syndrome?

A

Cataracts

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23
Q

How is the brain affected by Congenital Rubella Syndrome?

2 factors

A

Deafness

Mental Retardation

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24
Q

What 2 components make up Surfactant?

A

Lecithin

Sphingomyelin

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25
What are 3 Pro-Surfactant Hormones? *What induces formation of Surfactant in Fetal Lungs?
Cortisol Thyroxine Prolactin *Corticosteroids
26
What hormone is Anti-Surfactant?
Insulin
27
What was once used to prevent miscarriage? It is a synthetic...
Diethylstilbesterol Estrogen
28
DES (diethylstilbesterol) is associated with what cancer?
Clear Cell Adenocarcinoma of the Vagina
29
What pregnancy-risk group of drugs causes Auditory Nerve Toxicity and deafness?
Aminogoglycoside Antibiotics
30
What are 3 examples of Aminogoglycoside Antibiotics? *causes auditory nerve toxicity
Streptomycin Amikacin Tobramycin
31
At the level of the CN, what do Aminogolgycoside Antibiotics cause? What CN?
Toxicity with permanent bilateral deafness CN VIII - Vestibulocochlear
32
What causes permanently stained yellow teeth and Hypoplasia of Enamel?
Tetracycline in early pregnancy
33
6 physical manifestations of Trisomy 21 (Down's):
Simian Crease Retardation Oblique palpebral fissures Epicanthal folds/slanting eyes Thick, protruding tongue Mouth open
34
What is Trisomy 13 called? Trisomy 18?
Patau Syndrome Edward Syndrome
35
8 physical manifestations of Patau Syndrome (Trisomy 13):
Rocker Bottom feet Extra Digits Extra Fused toes Cardiac anomalies Renal defects Umbilical hernias Cleft lip/palate Deformed, low set Ears
36
What 2 Trisomies have Rocker Bottom Feet?
Patau - 13 Edward - 18
37
10 Physical Manifestations of Trisomy 18 - Edward Syndrome:
Rocker Bottom Feet Overlapping fingers Prominent Occiput Low set ears Severe mental retardation Micrognathia (small mouth) Congenital Heart Defects Renal anomalies Hypotonia Gap between toes
38
Which Trisomy has Overlapping Digits?
Edward (18)
39
What Trisomy has Extra Digits?
Patau (13)
40
Which Trisomy has a Simian Crease?
Down's
41
What are 3 Internal defects associated with Down's Syndrome.
Atrial and Ventricular Septal Defects Atresia of esophagus and small bowel Umbilical hernia
42
T/F | Down's Syndrome pts are often born with Congenital Heart Defects and have Infections in early childhood
True
43
What are 2 Leukemia's associated with Down's Syndrome:
ALL - Acute Lumphoblastic Leukemia AML - Acute Myeloid Leukemia
44
T/F | Down's Syndrome pts often have early onset Alzheimers (at ages over 40).
True
45
What Syndrome is marked by a defect on the Short Arm (p) of Chromosome 5?
Cri Du Chat
46
What Vitamin deficiency is involved with Neural Tube Defects?
Folic Acid
47
What chromosome and Arm is involved in Cri Du Chat Syndrome?
chromo 5 p - short arm
48
Anencephaly is a malformation at the ______ end of the neural tube.
Anterior
49
What fails to close in Anencephaly?
Anterior neuropore
50
Anencephaly is characterized by the absence of the ________
Cranial Vault
51
T/F | Anencephaly is associated with poorly differentiated neural tissue (Area Cerebrovasculosis)
True
52
What are the 4 types of Spina Bifida?
Spina bifida occulta (mild) Spina bifida with meningocele (bulb without innervation) Spina bifida with meningomyeolocele (with innervation) Spina bifida with Rachischisis (worst)
53
What are 3 features of Spina Bifida Occulta?
Vertebral arches fail to fuse Neural tube normal No protrusion from vertebral canal
54
T/F | Spina bifida with meningocele can occur in the cervical, lumbar, or occipital region
True
55
Describe Spina bifida with Meningocele: | 2 things
Extension of meninges through defect Fluid filled with meninges and CSF
56
Describe Spina bifida with Meningomyelocele:
Herniation of Arachnoid with CSF Dura, Arachnoid, Neural tissue protrusion from vertebral canal Cauda Equina protrudes
57
In Spina Bifida with Rachischisis, the _______ neuropore of the neural tube fails to close in week ____.
Posterior 4
58
T/F | Spina bifida with Rachischisis has a visible spinal cord caused by an open neural tube.
True
59
Women's hips, elongated body, male hypogonadism, small penis, small atrophic testes, and lack of secondary sex characteristics are features of what?
Klinefelter's | XXY
60
Klinefelters karyotype: Turners karyotype:
47 XXY 45 XO
61
Which sex chromosome nondisjunction disorder has its origin equally split 50/50 paternal and maternal?
Klinefelters
62
T/F | Trisomy 13, 18, and 21 all have a high association with maternal age
True
63
What is a common sign of Turner's syndrome in infancy?
Dorsal Edema on hands and feet
64
Other than Dorsal Edema of hands/feet, what are 5 external features of Turners?
Short stature Web-neck Broad chest, wide nipples Cubitus Valgus (elbows) Secondary sex characteristics fail to form
65
Aside from Infertility, what are 4 external features of Turners Syndrome?
Hypogonadism Amenorrhea Coarctation of descending Aorta Hypothyroidism
66
What is the most common heart defect in Turner's Syndrome?
Coarctation of the Descending Aorta
67
What hormone is elevated in Klinefelters? What is decreased?
FSH increased Testosterone decreased
68
When a pt with Turner's reaches 2 yo, she has... She experiences _____ before ______.
no more eggs Menopause before Menarche
69
The chorioathetotic movements associated with HD are attributed to what neurotransmitter? Excess or deficiency?
GABA - gamma-aminobutyric acid Deficiency
70
Marfan's Syndrome is a chromosomal defect on #____ and is _____
15 Autosomal Dominant
71
What 3 organs are affected by Marfan's Syndrome?
Eyes Skeleton CV system
72
What 3 effects does Marfan's have on the eyes?
Subluxation of the lens Retinal detachment Cataracts
73
What 3 effects does Marfan's have on the Skeletal System?
Elongated head Arachnodactyly (long fingers) Kyphoscoliosis - 2 plane Vertebral deformity
74
Floppy valves, _____ valve _____, regurgitation, heart failure, and Aortic aneurism with ______ are all consequences of Marfan's syndrome
mitral prolapse exsanguination (blood loss)
75
Fibrillin, a connective tissue essential for the maintenance of organ tissue structure, is defective in what?
Marfan's Syndrome
76
Chloride transport channels are defective in what disease?
Cystic Fibrosis
77
What inheritance pattern does Cystic Fibrosis exhibit?
Autosomal recessive
78
Pneumonia is caused by what organism in pts with Cystic Fibrosis?
Pseudomonas aeruginosa
79
What are the 3 organ systems involved with Cystic Fibrosis?
Lungs Pancreas Fetal intestines
80
What measures the amount of Chloride in sweat?
Sweat test
81
A positive Sweat Test indicates what?
Cystic Fibrosis
82
What is deficient in Osteogenesis Imperfecta?
Type I collagen
83
What is the most mild form of OI?
Type I OI
84
Name 4 Autosomal Dominant diseases. *Name 1 Autosomal Recessive:
Marfan's HD OI Neurofibromatosis *Cystic Fibrosis
85
NRDS - Neonatal Respiratory Distress Syndrome of the newborn is also know as...
Hyaline membrane disease
86
What are the 2 major complications to Hyaline Membrane Disease (Neonatal Respiratory Distress Syndrome) related to Oxygen Radicals?
Blindness (O2 radicals - Retrolental fibropasias) | BPD - Bronchopulmonary Dysplasia leads to wall thickening
87
T/F Necrotizing enterocolitis and Patent Ductus Arteriosus are complications of Hyaline Membrane Disease (Neonatal Respiratory Distress Syndrome)
True
88
What is the most common heart defect related to prematurity causing hyaline membrane disease of the newborn?
PDA - Patent Ductus Arteriosus
89
T/F | Fragile X Syndrome is related to Autism
True
90
What is the most common inherited form of mental retardation?
Fragile X
91
Fragile X syndrome is a defect on the ____ arm of the ____ chromosome
Long X
92
Increased head circumference, facial coarsening, joint hyperextensibility, enlarged testes, and abnormalities of the cardiac valves are all what syndrome?
Fragile X
93
Congenital herpes infection is characterized by what?
Vescicles * rashes * *also lethargy, hypotonia, convulsions, hep, encephalitis, respiratory difficulties, DIC
94
T/F In Utero chickenpox exposure will result in many fetal abnormalities including still birth, microencephaly, encephalitis, and microcalcification
True
95
What protein is deficient in Ducheyne Muscular Dystrophy? What Chromosome? Mode of inheritance?
Dystrophin (muscle component) X Recessive (x-linked recessive)
96
Barbituates, Tetracycline, Doxycycline, and Valproic Acid all pose risks to fetus
True