Clinical Pathology III Flashcards
What is the most common TORCH disease in the United States?
CMV - Cytomegalovirus
What type of organism is toxoplasma?
Protozoan parasite
What is the definitive host of Toxoplasma?
Cat
How is Toxoplasma spread from the mother to the fetus?
Transplacentally
*after fecal exposure
TORCH
T - Toxoplasma
O - Other
R - Rubella
C - Cytomegalovirus (type of herpes virus)
H - Herpes
What are 4 “Others” in TORCH?
Syphilis
Varicella
HIV
HBV
What is the grouped term for pathogens causing Vertically Transmitted Infections?
TORCH
What type of virus is Rubella?
What is another name for
Rubella?
Toga
German measles
Which TORCH has the characteristic of basophilic nuclear inclusion bodies?
CMV
cytomegalovirus
5 features of Syphilis:
Spirochete
Transferred to fetus after 3rd month of pregnancy
Perinatal and Infantile Syphilis
Lesions contain Spirochetes
Osteochondritis/Periostitis (Saddle nose/Saber Shin)
What are 2 features of Perinatal and Infantile Syphilis?
Diffuse rash with bullae
Epithelial sloughing on Palms and Soles
What type of bacteria is Syphilis?
Spirochete
Infantile Syphilis causes Liver, Lung, and _____ fibrosis due to ______ formation.
Heart
Gumma
What is the Granuloma (soft non-cancerous growth) resulting from either Perinatal or Tertiary Syphilis?
Gumma
What are 2 gross-level consequences of a Perinatal Syphilitic infection?
Gumma
Hutchinson’s Teeth
Describe Hutchinson’s Teeth:
Spaced, peg-like, scalloped teeth
Late occurring Congenital Syphilis is characterized by what 3 symptoms?
Interstitial Keratitis
Hutchinson’s Teeth
8th Nerve deafness (Vestibulocochlear)
4 Routes of CMV transmission:
Vertical: Birth Canal/Mother’s Milk
Sex
Body fluids (urine, saliva, breast milk, semen, vaginal secretion)
Blood transfusions/organ transplants
What is the most characteristic finding of Congenital Toxoplasma?
*either radiographically, autopsy, or CT
Intercranial calcifications
What are 3 organs affected by Congenital Rubella Syndrome?
Heart
Eyes
Brain
What is the heart defect seen in Congenital Rubella Syndrome called?
Patent Ductus Arteriosis (PDA)
*ductus arteriosis fails to close after birth
How are the eyes affected by Congenital Rubella Syndrome?
Cataracts
How is the brain affected by Congenital Rubella Syndrome?
2 factors
Deafness
Mental Retardation
What 2 components make up Surfactant?
Lecithin
Sphingomyelin
What are 3 Pro-Surfactant Hormones?
*What induces formation of Surfactant in Fetal Lungs?
Cortisol
Thyroxine
Prolactin
*Corticosteroids
What hormone is Anti-Surfactant?
Insulin
What was once used to prevent miscarriage?
It is a synthetic…
Diethylstilbesterol
Estrogen
DES (diethylstilbesterol) is associated with what cancer?
Clear Cell Adenocarcinoma of the Vagina
What pregnancy-risk group of drugs causes Auditory Nerve Toxicity and deafness?
Aminogoglycoside Antibiotics
What are 3 examples of Aminogoglycoside Antibiotics?
*causes auditory nerve toxicity
Streptomycin
Amikacin
Tobramycin
At the level of the CN, what do Aminogolgycoside Antibiotics cause?
What CN?
Toxicity with permanent bilateral deafness
CN VIII - Vestibulocochlear
What causes permanently stained yellow teeth and Hypoplasia of Enamel?
Tetracycline in early pregnancy
6 physical manifestations of Trisomy 21 (Down’s):
Simian Crease
Retardation
Oblique palpebral fissures
Epicanthal folds/slanting eyes
Thick, protruding tongue
Mouth open
What is Trisomy 13 called?
Trisomy 18?
Patau Syndrome
Edward Syndrome
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
What 2 Trisomies have Rocker Bottom Feet?
Patau - 13
Edward - 18
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
Which Trisomy has Overlapping Digits?
Edward (18)
What Trisomy has Extra Digits?
Patau (13)
Which Trisomy has a Simian Crease?
Down’s
What are 3 Internal defects associated with Down’s Syndrome.
Atrial and Ventricular Septal Defects
Atresia of esophagus and small bowel
Umbilical hernia
T/F
Down’s Syndrome pts are often born with Congenital Heart Defects and have Infections in early childhood
True
What are 2 Leukemia’s associated with Down’s Syndrome:
ALL - Acute Lumphoblastic Leukemia
AML - Acute Myeloid Leukemia
T/F
Down’s Syndrome pts often have early onset Alzheimers (at ages over 40).
True
What Syndrome is marked by a defect on the Short Arm (p) of Chromosome 5?
Cri Du Chat
What Vitamin deficiency is involved with Neural Tube Defects?
Folic Acid
What chromosome and Arm is involved in Cri Du Chat Syndrome?
chromo 5
p - short arm
Anencephaly is a malformation at the ______ end of the neural tube.
Anterior
What fails to close in Anencephaly?
Anterior neuropore
Anencephaly is characterized by the absence of the ________
Cranial Vault
T/F
Anencephaly is associated with poorly differentiated neural tissue (Area Cerebrovasculosis)
True
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)
What are 3 features of Spina Bifida Occulta?
Vertebral arches fail to fuse
Neural tube normal
No protrusion from vertebral canal
T/F
Spina bifida with meningocele can occur in the cervical, lumbar, or occipital region
True
Describe Spina bifida with Meningocele:
2 things
Extension of meninges through defect
Fluid filled with meninges and CSF
Describe Spina bifida with Meningomyelocele:
Herniation of Arachnoid with CSF
Dura, Arachnoid, Neural tissue protrusion from vertebral canal
Cauda Equina protrudes
In Spina Bifida with Rachischisis, the _______ neuropore of the neural tube fails to close in week ____.
Posterior
4
T/F
Spina bifida with Rachischisis has a visible spinal cord caused by an open neural tube.
True
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
Klinefelters karyotype:
Turners karyotype:
47 XXY
45 XO
Which sex chromosome nondisjunction disorder has its origin equally split 50/50 paternal and maternal?
Klinefelters
T/F
Trisomy 13, 18, and 21 all have a high association with maternal age
True
What is a common sign of Turner’s syndrome in infancy?
Dorsal Edema on hands and feet
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
Aside from Infertility, what are 4 external features of Turners Syndrome?
Hypogonadism
Amenorrhea
Coarctation of descending Aorta
Hypothyroidism
What is the most common heart defect in Turner’s Syndrome?
Coarctation of the Descending Aorta
What hormone is elevated in Klinefelters?
What is decreased?
FSH increased
Testosterone decreased
When a pt with Turner’s reaches 2 yo, she has…
She experiences _____ before ______.
no more eggs
Menopause before Menarche
The chorioathetotic movements associated with HD are attributed to what neurotransmitter?
Excess or deficiency?
GABA - gamma-aminobutyric acid
Deficiency
Marfan’s Syndrome is a chromosomal defect on #____ and is _____
15
Autosomal Dominant
What 3 organs are affected by Marfan’s Syndrome?
Eyes
Skeleton
CV system
What 3 effects does Marfan’s have on the eyes?
Subluxation of the lens
Retinal detachment
Cataracts
What 3 effects does Marfan’s have on the Skeletal System?
Elongated head
Arachnodactyly (long fingers)
Kyphoscoliosis - 2 plane Vertebral deformity
Floppy valves, _____ valve _____, regurgitation, heart failure, and Aortic aneurism with ______ are all consequences of Marfan’s syndrome
mitral
prolapse
exsanguination (blood loss)
Fibrillin, a connective tissue essential for the maintenance of organ tissue structure, is defective in what?
Marfan’s Syndrome
Chloride transport channels are defective in what disease?
Cystic Fibrosis
What inheritance pattern does Cystic Fibrosis exhibit?
Autosomal recessive
Pneumonia is caused by what organism in pts with Cystic Fibrosis?
Pseudomonas aeruginosa
What are the 3 organ systems involved with Cystic Fibrosis?
Lungs
Pancreas
Fetal intestines
What measures the amount of Chloride in sweat?
Sweat test
A positive Sweat Test indicates what?
Cystic Fibrosis
What is deficient in Osteogenesis Imperfecta?
Type I collagen
What is the most mild form of OI?
Type I OI
Name 4 Autosomal Dominant diseases.
*Name 1 Autosomal Recessive:
Marfan’s
HD
OI
Neurofibromatosis
*Cystic Fibrosis
NRDS - Neonatal Respiratory Distress Syndrome of the newborn is also know as…
Hyaline membrane disease
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
T/F
Necrotizing enterocolitis and Patent Ductus Arteriosus are complications of Hyaline Membrane Disease (Neonatal Respiratory Distress Syndrome)
True
What is the most common heart defect related to prematurity causing hyaline membrane disease of the newborn?
PDA - Patent Ductus Arteriosus
T/F
Fragile X Syndrome is related to Autism
True
What is the most common inherited form of mental retardation?
Fragile X
Fragile X syndrome is a defect on the ____ arm of the ____ chromosome
Long
X
Increased head circumference, facial coarsening, joint hyperextensibility, enlarged testes, and abnormalities of the cardiac valves are all what syndrome?
Fragile X
Congenital herpes infection is characterized by what?
Vescicles
- rashes
- *also lethargy, hypotonia, convulsions, hep, encephalitis, respiratory difficulties, DIC
T/F
In Utero chickenpox exposure will result in many fetal abnormalities including still birth, microencephaly, encephalitis, and microcalcification
True
What protein is deficient in Ducheyne Muscular Dystrophy?
What Chromosome?
Mode of inheritance?
Dystrophin (muscle component)
X
Recessive (x-linked recessive)
Barbituates, Tetracycline, Doxycycline, and Valproic Acid all pose risks to fetus
True
