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Clinical Pathology > Quiz 3 part 1 > Flashcards

Quiz 3 part 1 Flashcards

1
Q

What does TORCH stand for

A 
T - Toxoplasma
O - "other", (Syphilis, Varicella-Zoster, HIV, HBV)
R - Rubella
C - CMV - Cytomegalovirus
H - Herpes
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2
Q

Toxoplasma presents with what in infected infants?

A
  1. Intracranial calcification, fever, jaundice
  2. Chorioretinitis (inflamed choroid and retina)
  3. Hepatosplenomegaly (enlarged spleen/liver)
  4. Encephalitis
  5. Skin rash
    - Infection can also cause an abortion or result in a stillbirth
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3
Q

Congenital Syphilis presents with?

A
  1. Diffuse rash with bullae develops with sloughing of epithelium of the palm & soles. Contain mltpl spirochetes
  2. Osteochondritis and periostitis = Saber shin (bowed legs) & Saddle nose
  3. Liver/heart/lung fibrosis because of gummas
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4
Q

What is the most common cause of congenital infection in the US is what?

A

Cytomegalovirus (CMV)

  • due to multiple modes of transmission
  • Also leading cause of mental retardation in US
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5
Q

Which disease has cat as a host?

A

Toxoplasma

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6
Q

Which TORCH organisms belong to the Herpes family

A

Cytomegalovirus
Herpes
VZV

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7
Q

Which TORCH organisms DO NOT belong to herpes family

A

Toxoplasma
most of the “other” category (syphilis, HIV)
Rubella

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8
Q

Which of the TORCH organisms have acidophilic vs basophilic intranuclear inclusions

A

CMV = characterized by multinucleated giant cells with prominent BASOPHILIC intranuclear inclusions

Herpes = characterized by vesicular rash with pink/red ACIDOPHILIC (cowdry bodies) inclusions

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9
Q

In immunosuppressed patients, toxoplasmosis can present how?

A

life-threatening disseminated disease can result in pneumonia or encephalitis

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10
Q

Cause of congenital syphilis

A

An infected woman can transmit the spirochete to her fetus after the 3rd month of pregnancy. Unless treated promptly, late abortion, stillbirth, or multiple fetal abnormalities results

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11
Q

How does congenital varicella-zonster present?

A
  1. Characterized by stillbirth (1st trimester) or live birth with CNS abnormalities
    - (Microcephaly, encephalitis with microcalcifications)
  2. Eye abnormalities (cataracts, chorioretinitis & microophthalmia)
  3. Growth retardation, hydrops, limb abnormalities
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12
Q

Late occurring congenital syphilis is characterized by the triad of:

A
  1. Interstitial keratitis
    • Hutchinson’s teeth
  3. 8th nerve deafness
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13
Q

Diagnosis of congenital syphilis is done how?

A
  • By identifying spirochetes in early lesions by darkfield examination
  • Serologic test include VDRL and RPR (rapid plasma reagin) detect the present of ab to cardiolipin from beef hearts
  • Specific serologic test includes the FTA-ABS which involves the use of reponemal antigens and test for ab in patients serum
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14
Q

Define all organisms in TORCH and their classification

A 
Toxoplasma - protozoan parasite
Other - Syphilis, Varicella, HIV, HBV
Rubella - togavirus (German Measles)
Cytomegalovirus - herpesvirus
Herpes - herpesvirus
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15
Q

Different routs of Cytomegalovirus (CMV)

A
  1. Across the placenta
  2. Within the birth canal
  3. Within mother’s milk
  4. During blood transfusions & organ transplants
    ?5. Urine (baby to baby transmission)…
    ?6. Sexually, seen in both semen and cervical secretions
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16
Q

What is the most common congenital heart defect seen in congenital rubella syndrome

A

Patent Ductus Ateriosus

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17
Q

What is Patent Ductus Ateriosus

A

A congenital disorder in the heart wherein a neonate’s ductus arteriosus fails to close after birth.
- Early symptoms are uncommon, but in the first year of life include increased work of breathing and poor weight gain. With age, the PDA may lead to congestive heart failure if left uncorrected. (WIKI)

18
Q

What are the major components of surfactant

A
  • Rich in LECITHIN that keeps the pulmonary alveoli open and prevents fluid that fills the fetal lungs
    ?- Sphingomyelin
19
Q

What hormones are considered Pro or Anti surfactant

A

Pro-surfactant hormones

  • Cortisol, thyroxine, prolactin
  • corticosteroids are used to induce the formation of surfactant in fetal lungs

Anti-surfactant hormones

  • Insulin
  • (infants of diabetic mothers will have surfac. suppressed)
20
Q

What is DES?

A

Diethylstilbestrol is a synthetic estrogen, used in the past to prevent abortion. Also called morning after pill.

21
Q

What can DES cause?

A

Cervical hood
T-shaped uterus
Infertility
Premature labor

22
Q

Does DES have any association with cancer?

A

Yes, associated with clear cell adenocarcinoma of the vagina

23
Q

What drugs can cause auditory nerve toxicity leading to deafness?

A

Aminoglycoside antibiotics such as:

  • Streptomycin
  • Amikacin
  • Tobramycin
24
Q

What do aminoglycoside antibiotics cause?

A

Can cause CN VIII (auditory nerve) toxicity with permanent bilateral deafness and loss of vestibular function

25
Q

Complications of using tetracycline in pregnancy

A

Tetracycline and doxycycline (Vibramycin) are both antibiotics that may cause permanently stained (yellow) teeth and hypoplasia of enamel in fetus.

26
Q

Trisomy 13 - Patau syndrome is associated with what two things?

A
  1. Associated with an increased maternal age

2. Associated with sever malformations –> rarely survive a few months

27
Q

9 clinical features of Trisomy 13 - Patau syndrome

A
  1. Microcephaly
  2. Deformed, low set ears
  3. Microphthalmia
  4. MR
  5. Cleft lips/palate
  6. Polydactyly (extra digits) / rocker bottom feet (prominent heel bone)
  7. Cardiac anomalies
  8. Renal defects
  9. Umbilical hernias
28
Q

What is the 2nd most common autosomal disorder

A

Trisomy 18 - Edwards Syndrome

29
Q

How much of Trisomy 18 is due to nondisjunction

A

85 - 90% due to nondisjunction

30
Q

Trisomy 18 associated with two things

A
  1. Increased maternal age

2. Sever malformations - most do not live months

31
Q

7 clinical features of Trisomy 18 - Edwards Syndrome

A
  1. Prominent occiput with low set ears
  2. Severe MR
  3. Micrognathia (Small mouth)
  4. Overlapping fingers
  5. CHD
  6. Renal anomalies
  7. Rocker bottom feet
32
Q

What is the most common of the chromosomal disorders and a major cause of mental retardation?

A

Trisomy 21 - Down Syndrome

33
Q

Trisomy 21 - Down syndrome is due to what two possibilities

A

Due to meitoic non-disjunction

4-5% are due to Robertsonian translocation

34
Q

T or F, Trisomy 21 is associated with increased maternal age

A

True (95%)

35
Q

Trisomy 21 patients are at risk for what 5 systemic disorders

A
  1. 40% have CHD’s (atrial and ventricular septal defects) (most common cause of death in infancy/childhood)
  2. Atresias of the esophagus and small bowel along with umbilical hernias
  3. 10-20 fold increased risk of developing acute leukemias (ALL and AML)
  4. Over 40 –> develop neuropathologic changes characteristic of Alzheimer’s Dementia
  5. Abnormal immune responses –> predisposes them to serious infections, particularly Pneumonias
36
Q

6 clinical features of Trisomy 21 - Down Syndrome

A
  1. Flat facial profile with oblique palpebral fissures, slanted eyes, and epicanthal folds
  2. Thick protruding tongue with the mouth usually open
  3. Dysplastic ears
  4. Moderate to severe mental retardation
  5. Simian Crease - short broad hands
  6. Hypotonia and gap between 1st and 2nd toe
37
Q

What are the other names for Trisomy 13,18 and 21. Why?

A

13 - Patau Syndrome
18 - Edward Syndrome
21 - Down Syndrome

  • Named after the guys that coined the syndromes
38
Q

What is the genetics of Cri-du-chat syndrome?

A
  • Caused by a deletion of the short arm of chromosome number 5 and affected infants up to one year of age have a characteristic meow-like cry
  • Usually thrive better than trisomies 13 and 18 and some survive into adulthood.
39
Q

A deficiency of what vitamin is associated with neural tube defects

A

Maternal folic acid (vitamin B9) deficiency has been associated with an increased incidence of Spina Vifida as well as all of the other neural tube defects

40
Q

General features of anencephaly

A
  1. Congenital absence of all or part of the brain, a malformation of ANTERIOR end of the neural tube
  2. 2nd most common
  3. More common in females
  4. Either stillborn or die within first few days of life
  5. Forebrain development is disrupted due to failure of closure of the anterior end of the neural tube (anterior neuropore
41
Q

When looking anencephaly, what would one see?

A

Cranial vault is absent and cerebral hemispheres are represented by a discoid mass of highly vascularized, poorly differentiated neural tissue called the Area cerebrovasculosa, which lies on the flattened base of the skull behind two well formed and normally positioned eyes

42
Q

What is the area cerebrovasculosa

A

a discoid mass of highly vascularized, poorly differentiated neural tissue, which lies on the flattened base of the skull behind two well-formed and normally positioned eyes
- What is seen in anencephaly

Clinical Pathology (7 decks)

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