Test 3 Flashcards
common of the TORCH diseases T
Toxoplasmosis
- Caused by protozoan tissue parasite Toxoplasma gondii
common of the TORCH diseases O
Syphilis - Syphilis spirochete bacteria Varicella-Zoster - Herpesvirus Hepatitis B - Hepatitis B virus HIV - Retro Virus
common of the TORCH diseases R
Rubella
- Togavirus
common of the TORCH diseases C
Cytomegalic Inclusion Disease
- Cytomegalovirus - herpesvirus
common of the TORCH diseases H
Herpes
- Herpesvirus
What are the symptoms of Toxoplasmosis infecting an infant congenitally?
- Infected infants have a skin rash (raised red rash), encephalitis and abscess (inflamed brain), cysts in the brain, chorioretinitis (infection of the eye), hepatosplenomegaly (enlargement of the liver), fever, jaundice, intracranial calcification
- Treatment (acute and congenital) for Toxoplasmosis…
sulfadiazine and pyrimethamine
What are gummas?
= soft, non-cancerous growths resulting from syphilis
- Proteinaceous masses, necrotic center, undergo fibrous degeneration over time leaving behind an irregular scar or a round fibrous nodule
how is Congenital Syphilis Diagnosed?
IDing spirochetes in early lesions by Darkfield Examination
- Gold standard for diagnosis of Congenital Syphilis…
specific serologic test includes FTA-ABS (Fluorescent treponemal antibody absorbed test) which involves the use of treponemal antigens and test for antibodies in the patient’s serum
- Serologic tests for congenital syphilis…
include VDRL and RPR (rapid plasma reagin) detect the presence of antibodies to specific spirochetes to cardiolipin from beef hearts
- Describe Late-occurring congenital syphilis:
- Interstitial keratitis (cornea inflammation)
- Hutchinson’s teeth (small peg-like teeth spaced apart with no enamel)
- 8th nerve deafness
What does GUMMA FORMATION cause?
- Liver, heart and lung fibrosis
Describe Perinatal and infantile syphilis…
diffuse rash with bullae, sloughing of epithelium of palm and soles (lesions contain multiple spirochetes), no ossification of bone
How is the fetus infected with syphilis?
- Transmitted mother to fetus after 3rd month of pregnancy
Congenital Syphilis is caused by?
- Caused by syphilis spirochete bacteria
- Osteochondritis, periostitis (inflammation of periosteum) due to syphilis does what?
→ affects bones → saddle-nose, saber shin (inflammation of periosteum or where cartilage is turning into bone)
- Herpesvirus infection whose incidence is about..
7 per 10,000 pregnancies
Congenital Varicella-Zoster Characterized by…
- Characterized by stillbirth (1st trimester) or live birth with CNS abnormalities - microcephaly (small brain), encephalitis (infection of the brain) with microcalcifications
- Eye abnormalities of Congenital Varicella-Zoster
cataracts, chorioretinitis, microophthalmia (small receded eyes in orbits)
- Other findings: Congenital Varicella-Zoster
V-Z Virus DNA by PCR or detection of specific IgM antibody in fetal blood and amniotic fluid
Neonatal Herpes Infection Transmission…
- Transmitted during delivery by passage through an infected birth canal or transplacental
Neonatal Herpes Infection cause…
- Caused by an enveloped DNA virus of the Herpes family with the presence of vesicular rashes
Describe Neonatal herpes labials if the infant survives
Lesions around the lips and the surface of the tongue
- Skin vesicles, lethargy, hypotonia, convulsions, hepatitis, encephalitis, respiratory difficulties and DIC
The treatment appropriate for Neonatal herpes…
- Treatment with Vidarabine, which has been shown to reduce morbidity and mortality
- Mortality rate Neonatal herpes
85%
- Herpes Simplex II infection to neonate
- Encephalitis
- Pneumonia
- Hepatic necrosis
- Adrenalitis
- Vesicular rash - eyes, nares, mouth
the three most common general features of congenital rubella syndrome
- Microcephaly
- PDA (Patent Ductus Arteriosis)
- Cataracts (swelling/cloudiness of lens of the eye)
Minimum Titer for Rubella protection to fetus…
1:8 or greater of IgG indicates immunity and consequent protection of the fetus
The virus type of rubella is…
togavirus
the most common of TORCH diseases…
Cytomegalovirus (CMV)
What can Cytomegalovirus cause in immunocompromised?
causes pneumonia and hepatitis in immunocompromised patients (AIDs)
Cytomegalic Inclusion Disease transmitted by…
- Can be transmitted across the placenta, within the birth canal and commonly within the mother’s milk
- 20% of infants infecting with CMV during gestation show manifestations such as
- Microcephaly
- Seizures
- Deafness
- Jaundice
- Purpura (large purple blotches of skin)
- Hepatosplenomegaly
One of the leading causes of mental retardation in the U.S
Cytomegalic Inclusion Disease (infected infants continue to excrete CMV in the urine for years)
Treatment for CMV…
Treatment is with Gancyclovir for the
retinitis and pneumonia in AIDS pt’s.
the possible routes for TORCH any torch diseases
transplacental, down the birth canal, within the breast milk, in the blood
drugs contraindicated in pregnancy - causes vaginal adenosis that leads to clear cell adenocarcinoma
- Diethylstilbestrol DES
DES Can cause…
- Cervical hood, a T-shaped uterus, infertility, premature labor, in women exposed in utero.
- Also associated with clear cell adenocarcinoma of the vagina
the side effects to fetus of a woman during pregnancy getting aminoglycosides
- Streptomycin, amikacin, tobramycin
- Can cause CN 8 (auditory nerve) toxicity with permanent bilateral deafness and loss of vestibular function
- Causes high pitched deafness
General features of anencephaly
- The congenital absence of all or part of the brain, a malformation of the anterior end of the neural tube (anterior neuropore)
- Second most common neural tube defect (after spina bifida)
- More common in females and thought to develop at approximately 28 days of gestation
general features involved in spina bifida
- Defect is restricted to the disruption of the posterior vertebral arches to fuse due to failure of the neural tube to close (POSTERIOR ARCHES FAIL TO FUSE)
- The most common form of neural tube defects (accounts for 2500 infants born each year in the US and 400,000 worldwide/year)
- May occur anywhere along the vertebral column, but most common in the lumbosacral region
Spina Bifida Occulta
- Mildest
- Underlying neural tube differentiates normally and does not protrude from the vertebral canal (no diverticulum)
- Tuft of hair or a skin dimple over location of defect
- Neurologically symptoms absent
- Spinal cord and subarachnoid space the CSF floats in is normal
Spina Bifida with Meningocele
- Diverticulum presents as a fluid filled sac of meninges and CSF
- Lateral aspects of the sac characteristically covered by skin whereas the apex is usually ulcerated (a dimple)
- Occipital meningocele - diverticulum/outpouching filled with CSF of subarachnoid space (contains NO BRAIN TISSUE)
Spina Bifida with Meningomyelocele
- More severe than Meningoceal
- The dura, arachnoid, and neural tissue protrude from the vertebral canal forming a bulge through the opening
- A sac covered with skin visible on the surface - contains trapped nerve roots (those of the cauda equina trapped in the subcutaneous scar tissue)
- Neurologic dysfunction seen
Spina Bifida with Rachischisis
- Worst kind of spina bifida
- Occurs when the posterior neuropore of the neural tube fails to close during week 4
- Causes paralysis from the level of the defect caudally
- Presents clinically as an open neural tube that lies on the surface of the back with visible spinal cord
- Open neural tube, cervical → mid-thoracic
Common theme in spina bifida
- failure of posterior arches to fuse/failure of neural tube to close/results in open vertebral column in spina bifida.
Meningocele vs Meningomyelocele
Meningocele
- Diverticulum is a fluid filled sac with CSF and meninges
- Does not contain brain tissue/spinal cord does not appear in the diverticulum
Meningomyelocele
- Diverticulum is filled with dura, arachnoid, and neural tissue protrude from vertebral column
- Contains trapped nerve roots
- Severe neurological impairment
What is the deficiency of what vitamin involved with neural tube defects?
Folic Acid, Vitamin B9
Too much of alpha fetoprotein (AFP) in the blood is associated with..
neural tube defects
What two components make up surfactant that is deficient in hyaline membrane disease of newborn.
- An amniocentesis can check the L/S ratio = lecithin/sphingomyelin, to check for fetal lung maturity
- L/S ratio > 2:1 implies mature fetal lungs
2 most common complications involved with giving too much oxygen in HMD of newborn:
- Retrolental fibroplasias = blindness
- Bronchopulmonary Dysplasia (BPD) (a fibrosing condition of peribronchial and interstitial tissue leading to wall thickening in the lung)
What is the most common of the congenital heart defects that is not due to oxygen radicals due to extreme prematurity in hyaline membrane disease?
Persistent Patent Ductus Arteriosus (PDA) due to prematurity (vessel connecting aorta and pulmonary artery)
which hormones are prosurfactant vs. anti-surfactant.
Anti-surfactant hormones:
- insulin
Prosurfactant hormones:
- Cortisol, thyroxine and prolactin
the most common pathogenesis involved in down syndrome
95% due to maternal nondisjunction.
Down syndrome extremities
- Simian crease
- Shortened fifth finger
- Wide gap between first and second toes
- Dysplastic ears
- Growth failure, flat occiput
- Megacolon
Down syndrome Immune problems
- 10-20 fold increased risk of developing Acute Leukemias (ALL = acute lymphoblastic leukemia and AML)
- Virtually all over 40 years old develop pre-mature Alzheimer’s Dementia (atrophy of the brain)
- Abnormal immune responses predispose them to serious infections like pneumonias
In common features of trisomy 18 vs. trisomy 13
both have rock or bottom feet, polydactyly vs. overlapping
Trisomy in order of decreasing occurrence:
21, 18, 13
Trisomy 13 = Patau Syndrome characteristics
- Polydactyly and rocker bottom feet
- Rare, associated with increased maternal age
- Associated with severe malformations: microcephaly, microophthalmia and MR
- Associated with cleft lips and cleft palates
- Micrognathia, deformed and low set ears
Trisomy 18 = Edward Syndrome characteristics
- Second most common autosomal disorder
- 85-95% due to nondisjunction with a clear association with increased maternal age
- Severe malformations include prominent occiput (prominent back of head), low set ears, severe MR, micrognathia, overlapping fingers, CHD’s and renal anomalies and also rocker bottom feet
What is the chromosome and what part of chromosome in cri du chat’s syndrome?
- Caused by a deletion of the short arm of chromosome 5
Cri Du Chat Syndrome viability
- Usually thrive better than trisomies 13 and 18 and some do survive into adulthood
- Manifests with growth and mental retardation, microcephaly, short fingers, depressed nasal bridge, round face, cleft palates and gut defects
Klinefelter Syndrome
- Pattern results from MATERNAL AND PATERNAL NONDISJUNCTION (about 50/50) during meiotic division
What would be the lab findings of Klinefelter Syndrome due to the atrophy of the seminiferous tubules
- Leydig cells would appear larger owing to the diffuse atrophy of the tubules
Give general features externally on Turner’s syndrome
- XO
- Cystic hygroma
- Cubitus valgus - abnormal carrying angle of the arm
- Webbing of neck (due to distended lymphatic channels producing the cystic hygroma)
- Streak ovaries, infertility
- COARCTATION OF AORTA
- Menopause occurs before menarche
Skeleton affected in Marfan’s Disease
a. Skeleton is slender and tall
b. Head is elongated (dolichocephalic) with prominent frontal bossellation
c. Arachnodactyly (spider fingers) is common
d. Effects on joints: joints are loose and ligaments are weak, resulting in frequent luxations and spinal deformities (kyphoscoliosis)
e. Scoliosis, kyphoscoliosis, kyphosis
Eyes affected in Marfan’s Disease
a. Loosening of the ocular connective tissue causes deformities
b. Lens may be displaced (subluxations of the lens) and cataracts, retinal detachments, and blindness are common
CV system affected in Marfan’s Disease
a. The connective tissue of the large vessels is weak, resulting in dilation of the aorta (aortic aneurysm), fraying of the tissues, and weakening of the aortic vessel wall
b. Blood separates the layers of the weakened aorta, ultimately producing the dissecting aneurysms which are prone to rupture
c. Fragmentation and loss of elastic fibers with abundant mucinous mucopolysaccharide deposition (cystic medial necrosis)
d. Cardiac valves are loosely structured (floppy) and tend to malfunction (for example, mitral valve prolapse and regurgitation leading to heart failure)
Features occurring in the aorta of Marfan syndrome pt…
- Tendon and vessel walls devoid of normal fibrillin become loose, weak and cannot support normal body functions
(Fibrillin is important for strength)
- Smooth muscle in the wall of the aorta is replaced by fat leading to dissecting aneurysms
Marfan’s Disease genetic abnormalities
- Autosomal dominant
- A disorder of connective tissues of the body
- Dysfunction of a gene on chromosome 15 that codes for fibrillin (a connective tissue protein essential for the maintenance of tissue structure of various organs)
Osteogenesis Imperfecta is?
- Group of heritable disorders of connective tissue, autosomal dominant
Osteogenesis Imperfecta affects?
- Affects the skeleton, joints, teeth, sclera, skin, ligaments, and the ears
What gene is defective in OI?
- Mutations in genes which code for the chains of type I procollagen, the major structural protein of bone
Describe OI mutations
- Mutations in COL1A1 are seen in all types of OI and affects about ¾ of the Type I collagen molecule
- Mutations of COL1A2 affects about half of the synthesized collagen molecule
What is Huntington’s Disease?
- Show a marked decrease in gamma aminobutyric acid (GABA)
- HD gene codes for the production of an altered protein Huntingtin that is widely expressed throughout the body and all regions of the nervous system (by both neurons and glial cells)
Huntington’s Disease Genetics
- HD is one of the purest examples of true autosomal completely dominant disorder (heterozygotes do not differ clinically)
- Principally affects whites of Northwestern European ancestry
- Function and mechanism of gene is unknown
The chromosome involved in marfan’s vs. OI vs. huntington’s disease.
Marfan’s: Chromosome 15
Osteogenesis Imperfecta: Chromosome 17 and 7
Huntington’s: Chromosome 4
What is the protein deficiency in marfan’s vs. OI vs. huntington’s disease.
Marfan’s: Fibrillin
Osteogenesis Imperfecta: COL1A1 and COL1A2 (encode for chains of type I procollagen)
Huntington’s: HD gene
The pathogenesis of cystic fibrosis.
- Most common autosomal recessive trait
- Almost entirely limited to caucasians
- Gene responsible for CF normally encodes for the protein forming the so called Chloride Transport channel in the cell membrane
- The viscid mucous leads to obstruction of the lumen of organs
clinical features in the pancreas in CF
- Obstruction of fetal intestine by dehydrated muconium → intestinal rupture and dissipation of intestinal contents throughout the abdominal cavity (meconium ileus with peritonitis)
- Stools contain undigested food and are bulky, greasy, and foul smelling
- Affected children have malnutrition
clinical features in the intestine in CF.
- Obstruction of pancreatic ducts with viscid mucous prevents the flow of pancreatic juices into the intestines
- Pancreatic enzymes are essential for the digestion of food, malabsorption ensues, chronic pancreatitis may ensue
the terminal event of patients with CF
pneumonias
that the number 1 organism involved with pneumonias in CF patients…
pseudomonas
most common autosomal recessive disorder in the US - only seen in caucasians.
CF
anytime you hear the word vesicle you should think about
herpes
most common of congenital heart defects:
PDA is most common
