Test 3 Flashcards
(75 cards)
1
Q
What does TORCH stand for?
A
Toxoplasma Other -> Syphilis, VZ, HIV, HBV Rubella CMV Herpes
2
Q
Main characteristic of toxoplasma?
A
Intracranial calcification (also fever, jaundice, chorioretinitis, hepatosplenomegaly)
3
Q
What is varicella zoster characterized by?
A
stillbirth or live birth with cns abnormalities including MICROCALCIFICATION
4
Q
4 main characteristics of a baby born with congenital syphilis
A
- Osterochondritis (SADDLE NOSE)
- Periostitis (SABER SHIN)
- Gummas (fibrosis) in heart liver or lung
- Hutchinson’s Teeth
5
Q
Which TORCH condition is most common in US?
A
CMV due to multiple modes of transmission
Leading cause of mental retardation
6
Q
Which TORCH organisms belong to herpes family?
A
- CMV
- VZ
- HSV 1 and 2
7
Q
CMV is characterized by _________ giant cells with prominent _____ intranuclear inclusions
A
multinucleated
BASOPHILIC
8
Q
Herpes is characterized by vesicular _____ with pink/red ACIDOPHILIC (_____ ____) inclusions
A
rash
cowdry bodies
9
Q
An infected woman can transmit the Syphilis SPIROCHETE to her fetus after what month of pregnancy?
A
Third - unless treated promptly, late abortion, stillbirth, or multiple fetal abnormalities result
10
Q
In perinatal and infantile syphilis, a ______ rash with ____ develops with sloughing of the ______ of the palms and soles. These lesions contain multiple spirochetes.
A
Diffuse
Bullae
Epithelium
11
Q
Late occurring congenital syphilis is characterized by a triad what things?
A
- Interstitial keratitis
- Hutchinson’s teeth
- 8th nerve deafness
12
Q
What kind of examination identifies syphilis spirochetes?
A
Darkfield
13
Q
3 serologic tests for syhpilis
A
VDRL
RPR
FTA-ABS
14
Q
5 ways CMV is transmitted
A
- Across placenta
- within birth canal
- mothers milk
- blood/organ transplants
- Urine (baby to baby)
15
Q
What is the most common congenital heart defect seen in congenital rubella syndrome?
A
Patent Ductus Arteriosus
16
Q
What and 2 main components of surfactant?
A
- Lecithin
2. Sphingomyelin
17
Q
What are the 4 pro-surfactant hormones?
A
- Cortisol
- Thyroxine
- Prolactin
(4. Corticosteroids - induce the formation of surfactant in fetal lungs)
18
Q
What is the anti-surfactant hormone?
A
Insulin
19
Q
What is DES?
A
Diethylstilbestrol -> synthetic estrogen (use to be used to prevent abortions)
20
Q
What can happen to the daughters whose mothers used DES while pregnant?
A
- Cervical hood
- T-shaped uterus
- Infertility
- Premature labor
- CLEAR CELL ADENOCARCINOMA of the vagina
21
Q
What 3 drugs can cause auditory nerve toxicity leading to deafness?
A
Aminoglycoside antibiotics 1. Streptomycin 2. Amikacin 3. Tobramycin (causes CNVIII toxicity with permanent bilateral deafness and loss of vestibular function)
22
Q
What type of antibiotics if taken while pregnant will cause the baby to have permanently stained yellow teeth and hypoplasia of enamel?
A
Tetracycline and doxycycline (Vibramycin)
23
Q
Name for Trisomy 13 and what is it associated with
A
Patau Syndrome (rare) Associated with increased maternal age and severe malformations - rarely survive a few months
24
Q
9 clinical features of Patau Syndrome
A
- Microencephaly
- deformed low set ears
- microphthalmia
- MR
- Cleft lip/palate
* 6. Polydactyly - Cardiac anomalies
- Umbilical hernias
- Renal defects
25
Name for trisomy 18 and what is it associated with?
Edwards Syndrome
| Associated with Increased maternal age and severe malformations, most dont live months
26
7 clinical features of Edwards Syndrome
1. Prominent occiput with low set ears
2. Severe MR
3. Micrognathia
4. overlapping fingers
5. CHD
6. Renal anomalies
7. Rocker bottom feet*
27
What is the most common chromosomal disorder and major cause of mental retardation?
Trisomy 21 - Down Syndrome
| 95% associated with increased maternal age
28
***6 clinical features of trisomy 21
1. Flat facial profile with oblique palpebral fissures and epicanthal folds
2. thick protruding tongue with 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
29
***What 5 things are people with DS at risk for systemically?
1. CHD - atrial and ventricular septal defects
2. Atresias of the esophagus and small bowel along with umbilical hernias
3. Acute leukemias (ALL and AML)
4. Alzheimer's Dementia >40 age
5. Abnormal immune responses - predisposes them to infections ie pneumonias
30
What syndrome is caused by a deletion of the short arm of chromosome #5?
Cri-du-chat syndrome - infants have a distinct meow like cry - some survive to adulthood
31
What vitamin is associated with neural tube defects?
Maternal folic acid (vit B9)
32
Anencephaly is the congenital absence of all or part of the ____, a malformation of the ______ end of the neural tube. ____ most common neural tube defect. More common in (M/F)______. Are either ______ or die with the first few days of life. Forebrain development is disruped due to failure of _______ _____ to close. The cranial vault is _____ and the cerebral hemispheres are represented by a discoid mass of highly vascularized, poorly differentiated neural tissue called the ____ _______, which lies on the flattened base of the skull behind 2 well formed normally positioned ____.
```
Brain
ANTERIOR
2nd
Females
Stillborn
Anterior Neuropore
Absent
AREA CEREBROVASCULOSA
Eyes
```
33
What are the 4 types of spina bifida? LOWER neuropore does not close -most common NT defect
1. Occulta (best outcome) single vertebra fails to fuse - usually has a tuft of hair and dimpling on the back
2. Menigocele - occipital or lumbo-sacral sac, no nerve root exposed
3. Meningomyelocele - lumbo-sacral mass of nerve roots meninges within it, dimple in the center
4. Rachischisis (worst!) nerve roots extend out of skin (cauda equina) no sac, flat against the skin
34
What is the name for when ventricular cistern as well as the brain and meninges protrude from the unossified gap in the skull?
Meningohydroencephalocele
35
What is the name for when a diverticulum of malformed CNS tissue and flattened arachnoid extending through a defect in the posterior cranium (occiput)?
Meningoencephalocele
36
What is the name for a more severe case of spina bifida where the dura and the arachnoid, as well as neural tissue protrudes from the vertebral canal, forming a bulge through the opening?
Meningomyelocele
37
Meningomyelocele is a sac covered with skin, visible on the surface, complete with trapped ______ ____, particularly those of the cauda equina to be trapped in the _________ scar tissue. The spinal cord appears as a flattened, _____ like structure. _______ dysfunction is seen, related to the structural _______ of the cord itself and to superimposed infection that extends from the thin overlying ____
```
Nerve Roots
subcutaneous
ribbon
Neurologic
abnormality
skin
```
38
The patients of a meningomyelocele have clinical defects referable to ____ and _____ function in the lower extremities as well as disturbances of bowel and ____ control. A lumbosacral meningocele is when the meninges only protrude through the opening, covered by a ____-_____ sac
motor
sensory
bladder
skin-lined
39
2 or more X chromosomes, 1 or more Y chromosomes from non-disjunction rarely diagnosed before puberty bc testicular abnormality does not develop until early teens
Klinefelters syndrome 47 XXY
40
Features of Klinefelters syndrome.
lack of beard and body hair, gynecomastia, hips are female like, lack of pubic hair, testicular atrophy, infertility, long legs/arms
eunuchoid body habitus
elongated body
small atrophic testes and small penis
lack of secondary sex characteristics: deep voice, beard
mean IQ is lower but retardation is uncommon
41
Complete or partial monosomy of X-chromosome, - most common sex chromosome abnormality in females
Turners syndrome - most common = 45X
42
Features of turners syndrome
short stature, amenorrhea, edema b/c of lymph stasis in hands and feet, heart shaped face, coarctation of aorta and bicuspid aortic valves, cubitus valgus, streak ovaries, infertility, broad chest and widely spaced nipples, webbing of neck b/c distended lymph channels (cystic hygroma), low posterior hair line, pigmented nevi of skin. failure of secondary sex characteristics to develop, **AMENORRHEA. Menopause before menarche
43
What parent is most likely to give klinefelters to their child?
***50/50 chance maternal/paternal nondisjunction
44
What are the lab values of Klinefelter's related to testosterone?
Testosterone levels are reduced due to hypogonadism. FHS levels are consistently elevated
45
What is the classic congenital heart defect with turners syndrome?
****Congenital heart defects - coarctation of the aorta and bicuspid aortic valves
46
Name for distended lymphatic channels causing a webbing of the neck - seen in turners syndrome
**Cystic hygroma
47
What disease is an autosomal dominant disorder and is located in chromosome 4 that codes for the production of an altered protein that is widely expressed throughout the body and all regions of the nervous system, by both neurons and glial tissue.
Huntingtons Disease - its funtion and mechanism is unknown
48
What syndrome is an autosomal dominant disorder, dysfuntion of gene on chromosome 15 (***) that codes for FIBRILLIN. It is a disorder of CT manifested by changes in skeleton , eyes and CV system.
Marfan's syndrome
49
What is fibrillin?
A CT protein essential for maintenance of tissue structure of various organs, tendons, and vessel walls devoid of normal fibrillin becomes loose, weak , and cannot support normal body functions. (The reason CT is CT and stretchy!)
50
In Marfan's syndrome, what happens to the skeletal system?
Slender tall, elongated head (dolichocephalic), prominent frontal bossellation, arachnodactyly (long spider fingers) frequent luxations and spinal deformities (kyphoscoliosis)
51
In Marfan's syndrome, the CV is affected, causes dilation of the ____, fraying of tissues, floppy _____, valves malfunction, mitral valve _____ and regurgitation leading to heart failure and _____. Blood separates the layers of the weakened aorta, ultimately producing dissecting _____ which are prone to _____.
```
Aorta
Valves
Prolapse
Death
Aneurysms****
Rupture
```
52
Cystic Medial Necrosis is seen microscopically with what condition?
Marfan's Syndrome (fragmentation and loss of elastic fibers with abundant mucinous mucopolysaccharide deposition)
53
In Marfan's Syndrome what are 4 ocular complications?
1. Displaced lens (subluxations)
2. Cataracts
3. Retinal Detachments
4. Blindness
54
With Marfan's Syndrome what is death often caused by?
**heart failure secondary to valvular dysfunction or rupture of aortic aneurysm with exsanguination
55
What is the most common autosomal recessive disease? Almost always seen in caucasians
Cystic Fibrosis
56
What gene defect is seen with CF?
Defect in a gene that normally codes for protein forming chloride transport channel in the cell membrane causing CL transport defect leading to lack of NaCl in glandular secretions of all exocrine glands
Secretions have less water and are viscid leading to obstruction of lumens of organs
57
What 3 glands are most affected in CF
1. Pancreas - malabsorption, malnutrition, chronic pancreatitis, prevent flow of pancreatic juices
2. Intestines (fetal) - steatorrhea, intestinal rupture and dissipation of intestinal contents throughout the abdominal cavity
3. Bronchi - bronchitis, bronchiectasis, pneumonia, honeycomb lung, lung abscesses, recurrent pulmonary infection
58
What is the most important complication in CF?
Hyperviscocity of bronchial mucous - makes viscous plugs to prevent respiration
59
What G- bacteria causes the most problems in CF?
**Pseudomonas aeruginosa
60
What test measures the Cl concentration that is excreted in sweat?
Sweat test - used to screen for CF (elevated levels of Cl will be seen in a person with CF)
61
Name for a group of heritable disorders of CT, caused by mutations in the gene for TYPE 1 COLLAGEN (Autosomal Dominant) Affects the skeleton, joints, teeth, sclera, skin, ligaments, and the ears.
Osteogenesis imperfecta
62
In OI what mutations are involved and on what chromosomes?
1. COL1A1 on chromosome 17 (in ALL types of OI affects 3/4 types of type 1 collagen molecule)
2. COL1A2 on chromosome 7 (in 1/2 of the types of OI )
- without these, bones are weak and brittle
63
What color are the teeth in OI?
due to the hypoplasia of the dentine and pulp the teeth are misshapen and bluish or yellow in color
64
What are 2 disorders that have to do with hyaline membrane disease of the newborn (deals with charged oxygen radicals)
1. Retrolental Fibroplasias -toxicity in the eyes leads to blindness
2. Bronchopulmonary Dysplasia (BPD) - fibrosing condition of peribronchial and interstitial tissue leading to wall thickening
65
Which congenital heart defect is associated with hyaline membrane disease? (due to prematurity)
Patent Ductus Arteriosus (PDA)
66
What is the most common form of inherited mental retardation due to a defect on the long arm of the X chromosome. (second only to trisomy 21 as an identifiable cause of MR)
Fragile X syndrome - a fragile site is a specific site of a specific locus on a chromosome that breaks easily. (maybe up to 5- fragile sites on autosomal and sex chromosomes)
67
What is the locus that is associated with mental retardation due to a repeat of an AA sequence (CGG repeat)
Xq27
68
What are 5 characteristics of males with fragile x syndrome - appear in childhood
1. increased head circumference
2. facial coarsening
3. joint hyperextensibility
4. enlarged testes
5. abnormalities of cardiac valves
69
What is a severe X-linked recessive disorder of muscle caused by a mutation of the gene DMD?
Duchenne Muscular Dystrophy - inherited or spontaneous
70
Name for the protein that DMD codes for which is an important structural component within muscle tissue
Dystrophin (provides structural stability on the inner surface of the muscle sarcolemma AND links the subsarcolemmal cytoskeleton to the exterior of the cell)
71
What is the Gower Sign?
A positive gower sign is represented when a child helps himself get up with his upper extremities: first by rising to stand on his arms and knees, and walking his hands up his legs to stand up. Seen in DMD
72
What is DMD characterized by?
Progressive degeneration of muscles particularly those of the pelvic and shoulder girdles
- progressive muscle weakness
- muscle wasting
- Pseudohypertrophy of calf
- frequent falls, difficulty walking
- fatigue
- variable degrees of MR
- GI dysfunction
- positive gower sign
- Most common cause of noninflammatory myopathy in children
73
Most common cause of death in someone with DMD
complications of respiratory insufficiency, cardiomyopathy, or cardiac arrhythmia
74
OI nickname?
Brittle bone disease
75
Which OI is mildest? (4 types)
Type 1 - characterised multiple fractures, blue sclera, hearing and sometimes teeth abnormalities. Callus formation, joint laxity which leads to kyphoscoliosis and flat feet
