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Flashcards in Clinical Pathology III Deck (96)
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1
Q

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

A

CMV - Cytomegalovirus

2
Q

What type of organism is toxoplasma?

A

Protozoan parasite

3
Q

What is the definitive host of Toxoplasma?

A

Cat

4
Q

How is Toxoplasma spread from the mother to the fetus?

A

Transplacentally

*after fecal exposure

5
Q

TORCH

A

T - Toxoplasma

O - Other

R - Rubella

C - Cytomegalovirus (type of herpes virus)

H - Herpes

6
Q

What are 4 “Others” in TORCH?

A

Syphilis

Varicella

HIV

HBV

7
Q

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

A

TORCH

8
Q

What type of virus is Rubella?

What is another name for
Rubella?

A

Toga

German measles

9
Q

Which TORCH has the characteristic of basophilic nuclear inclusion bodies?

A

CMV

cytomegalovirus

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)

11
Q

What are 2 features of Perinatal and Infantile Syphilis?

A

Diffuse rash with bullae

Epithelial sloughing on Palms and Soles

12
Q

What type of bacteria is Syphilis?

A

Spirochete

13
Q

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

A

Heart

Gumma

14
Q

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

A

Gumma

15
Q

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

A

Gumma

Hutchinson’s Teeth

16
Q

Describe Hutchinson’s Teeth:

A

Spaced, peg-like, scalloped teeth

17
Q

Late occurring Congenital Syphilis is characterized by what 3 symptoms?

A

Interstitial Keratitis

Hutchinson’s Teeth

8th Nerve deafness (Vestibulocochlear)

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

19
Q

What is the most characteristic finding of Congenital Toxoplasma?

*either radiographically, autopsy, or CT

A

Intercranial calcifications

20
Q

What are 3 organs affected by Congenital Rubella Syndrome?

A

Heart

Eyes

Brain

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

22
Q

How are the eyes affected by Congenital Rubella Syndrome?

A

Cataracts

23
Q

How is the brain affected by Congenital Rubella Syndrome?

2 factors

A

Deafness

Mental Retardation

24
Q

What 2 components make up Surfactant?

A

Lecithin

Sphingomyelin

25
Q

What are 3 Pro-Surfactant Hormones?

*What induces formation of Surfactant in Fetal Lungs?

A

Cortisol

Thyroxine

Prolactin

*Corticosteroids

26
Q

What hormone is Anti-Surfactant?

A

Insulin

27
Q

What was once used to prevent miscarriage?

It is a synthetic…

A

Diethylstilbesterol

Estrogen

28
Q

DES (diethylstilbesterol) is associated with what cancer?

A

Clear Cell Adenocarcinoma of the Vagina

29
Q

What pregnancy-risk group of drugs causes Auditory Nerve Toxicity and deafness?

A

Aminogoglycoside Antibiotics

30
Q

What are 3 examples of Aminogoglycoside Antibiotics?

*causes auditory nerve toxicity

A

Streptomycin

Amikacin

Tobramycin

31
Q

At the level of the CN, what do Aminogolgycoside Antibiotics cause?

What CN?

A

Toxicity with permanent bilateral deafness

CN VIII - Vestibulocochlear

32
Q

What causes permanently stained yellow teeth and Hypoplasia of Enamel?

A

Tetracycline in early pregnancy

33
Q

6 physical manifestations of Trisomy 21 (Down’s):

A

Simian Crease

Retardation

Oblique palpebral fissures

Epicanthal folds/slanting eyes

Thick, protruding tongue

Mouth open

34
Q

What is Trisomy 13 called?

Trisomy 18?

A

Patau Syndrome

Edward Syndrome

35
Q

8 physical manifestations of Patau Syndrome (Trisomy 13):

A

Rocker Bottom feet

Extra Digits

Extra Fused toes

Cardiac anomalies

Renal defects

Umbilical hernias

Cleft lip/palate

Deformed, low set Ears

36
Q

What 2 Trisomies have Rocker Bottom Feet?

A

Patau - 13

Edward - 18

37
Q

10 Physical Manifestations of Trisomy 18 - Edward Syndrome:

A

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
Q

Which Trisomy has Overlapping Digits?

A

Edward (18)

39
Q

What Trisomy has Extra Digits?

A

Patau (13)

40
Q

Which Trisomy has a Simian Crease?

A

Down’s

41
Q

What are 3 Internal defects associated with Down’s Syndrome.

A

Atrial and Ventricular Septal Defects

Atresia of esophagus and small bowel

Umbilical hernia

42
Q

T/F

Down’s Syndrome pts are often born with Congenital Heart Defects and have Infections in early childhood

A

True

43
Q

What are 2 Leukemia’s associated with Down’s Syndrome:

A

ALL - Acute Lumphoblastic Leukemia

AML - Acute Myeloid Leukemia

44
Q

T/F

Down’s Syndrome pts often have early onset Alzheimers (at ages over 40).

A

True

45
Q

What Syndrome is marked by a defect on the Short Arm (p) of Chromosome 5?

A

Cri Du Chat

46
Q

What Vitamin deficiency is involved with Neural Tube Defects?

A

Folic Acid

47
Q

What chromosome and Arm is involved in Cri Du Chat Syndrome?

A

chromo 5

p - short arm

48
Q

Anencephaly is a malformation at the ______ end of the neural tube.

A

Anterior

49
Q

What fails to close in Anencephaly?

A

Anterior neuropore

50
Q

Anencephaly is characterized by the absence of the ________

A

Cranial Vault

51
Q

T/F

Anencephaly is associated with poorly differentiated neural tissue (Area Cerebrovasculosis)

A

True

52
Q

What are the 4 types of Spina Bifida?

A

Spina bifida occulta (mild)

Spina bifida with meningocele (bulb without innervation)

Spina bifida with meningomyeolocele (with innervation)

Spina bifida with Rachischisis (worst)

53
Q

What are 3 features of Spina Bifida Occulta?

A

Vertebral arches fail to fuse

Neural tube normal

No protrusion from vertebral canal

54
Q

T/F

Spina bifida with meningocele can occur in the cervical, lumbar, or occipital region

A

True

55
Q

Describe Spina bifida with Meningocele:

2 things

A

Extension of meninges through defect

Fluid filled with meninges and CSF

56
Q

Describe Spina bifida with Meningomyelocele:

A

Herniation of Arachnoid with CSF

Dura, Arachnoid, Neural tissue protrusion from vertebral canal

Cauda Equina protrudes

57
Q

In Spina Bifida with Rachischisis, the _______ neuropore of the neural tube fails to close in week ____.

A

Posterior

4

58
Q

T/F

Spina bifida with Rachischisis has a visible spinal cord caused by an open neural tube.

A

True

59
Q

Women’s hips, elongated body, male hypogonadism, small penis, small atrophic testes, and lack of secondary sex characteristics are features of what?

A

Klinefelter’s

XXY

60
Q

Klinefelters karyotype:

Turners karyotype:

A

47 XXY

45 XO

61
Q

Which sex chromosome nondisjunction disorder has its origin equally split 50/50 paternal and maternal?

A

Klinefelters

62
Q

T/F

Trisomy 13, 18, and 21 all have a high association with maternal age

A

True

63
Q

What is a common sign of Turner’s syndrome in infancy?

A

Dorsal Edema on hands and feet

64
Q

Other than Dorsal Edema of hands/feet, what are 5 external features of Turners?

A

Short stature

Web-neck

Broad chest, wide nipples

Cubitus Valgus (elbows)

Secondary sex characteristics fail to form

65
Q

Aside from Infertility, what are 4 external features of Turners Syndrome?

A

Hypogonadism

Amenorrhea

Coarctation of descending Aorta

Hypothyroidism

66
Q

What is the most common heart defect in Turner’s Syndrome?

A

Coarctation of the Descending Aorta

67
Q

What hormone is elevated in Klinefelters?

What is decreased?

A

FSH increased

Testosterone decreased

68
Q

When a pt with Turner’s reaches 2 yo, she has…

She experiences _____ before ______.

A

no more eggs

Menopause before Menarche

69
Q

The chorioathetotic movements associated with HD are attributed to what neurotransmitter?

Excess or deficiency?

A

GABA - gamma-aminobutyric acid

Deficiency

70
Q

Marfan’s Syndrome is a chromosomal defect on #____ and is _____

A

15

Autosomal Dominant

71
Q

What 3 organs are affected by Marfan’s Syndrome?

A

Eyes

Skeleton

CV system

72
Q

What 3 effects does Marfan’s have on the eyes?

A

Subluxation of the lens

Retinal detachment

Cataracts

73
Q

What 3 effects does Marfan’s have on the Skeletal System?

A

Elongated head

Arachnodactyly (long fingers)

Kyphoscoliosis - 2 plane Vertebral deformity

74
Q

Floppy valves, _____ valve _____, regurgitation, heart failure, and Aortic aneurism with ______ are all consequences of Marfan’s syndrome

A

mitral

prolapse

exsanguination (blood loss)

75
Q

Fibrillin, a connective tissue essential for the maintenance of organ tissue structure, is defective in what?

A

Marfan’s Syndrome

76
Q

Chloride transport channels are defective in what disease?

A

Cystic Fibrosis

77
Q

What inheritance pattern does Cystic Fibrosis exhibit?

A

Autosomal recessive

78
Q

Pneumonia is caused by what organism in pts with Cystic Fibrosis?

A

Pseudomonas aeruginosa

79
Q

What are the 3 organ systems involved with Cystic Fibrosis?

A

Lungs

Pancreas

Fetal intestines

80
Q

What measures the amount of Chloride in sweat?

A

Sweat test

81
Q

A positive Sweat Test indicates what?

A

Cystic Fibrosis

82
Q

What is deficient in Osteogenesis Imperfecta?

A

Type I collagen

83
Q

What is the most mild form of OI?

A

Type I OI

84
Q

Name 4 Autosomal Dominant diseases.

*Name 1 Autosomal Recessive:

A

Marfan’s

HD

OI

Neurofibromatosis

*Cystic Fibrosis

85
Q

NRDS - Neonatal Respiratory Distress Syndrome of the newborn is also know as…

A

Hyaline membrane disease

86
Q

What are the 2 major complications to Hyaline Membrane Disease (Neonatal Respiratory Distress Syndrome) related to Oxygen Radicals?

A

Blindness (O2 radicals - Retrolental fibropasias)

BPD - Bronchopulmonary Dysplasia
leads to wall thickening

87
Q

T/F
Necrotizing enterocolitis and Patent Ductus Arteriosus are complications of Hyaline Membrane Disease (Neonatal Respiratory Distress Syndrome)

A

True

88
Q

What is the most common heart defect related to prematurity causing hyaline membrane disease of the newborn?

A

PDA - Patent Ductus Arteriosus

89
Q

T/F

Fragile X Syndrome is related to Autism

A

True

90
Q

What is the most common inherited form of mental retardation?

A

Fragile X

91
Q

Fragile X syndrome is a defect on the ____ arm of the ____ chromosome

A

Long

X

92
Q

Increased head circumference, facial coarsening, joint hyperextensibility, enlarged testes, and abnormalities of the cardiac valves are all what syndrome?

A

Fragile X

93
Q

Congenital herpes infection is characterized by what?

A

Vescicles

  • rashes
  • *also lethargy, hypotonia, convulsions, hep, encephalitis, respiratory difficulties, DIC
94
Q

T/F
In Utero chickenpox exposure will result in many fetal abnormalities including still birth, microencephaly, encephalitis, and microcalcification

A

True

95
Q

What protein is deficient in Ducheyne Muscular Dystrophy?

What Chromosome?

Mode of inheritance?

A

Dystrophin (muscle component)

X

Recessive (x-linked recessive)

96
Q

Barbituates, Tetracycline, Doxycycline, and Valproic Acid all pose risks to fetus

A

True

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