Quiz 1 Flashcards

1
Q

Time elapsed since the 1st day of LMP. Precedes conception by 2 weeks.

A

gestational age (mentstrual age)

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2
Q

2 weeks from 1st day of LMP

A

ovulation age (post-conceptional age)

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3
Q

How many days/weeks is gestation?

A

280 days or 40 weeks from LMP (gestational age)

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4
Q

Naegle rule

A

LMP - 3 months + 1 week

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5
Q

What are weeks for each trimester? (gestational age)

A

0 - 12 // 13 - 26 // 26 - 40

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6
Q

If fertilization happens at day 0, what day is the morula stage? blastocyst? embryo? fetus?

A
In postconceptual age:
Morula = 3 days
Blastocyst = 4.5 (implantation)
Embryo = weeks 3 - 8
Fetus > 8 weeks
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7
Q

_______ is the most sensitive period for teratogenicity.

A

3-8 weeks (post-conceptional age)

5-10 weeks (gestational age)

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8
Q

Developmental milestones in the fetal period: gender? fetal movement and cochlear function? viability? fat deposition? full term?

A
Gender = week 16
Fetal movement (felt by mother) and cochlear function = week 20 
Considered viable = week 24
Fat deposits = week 32
Full term = weeks 39-40
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9
Q

What is the average weight of full term fetus/baby?

A

3400 g (7.5 lbs)

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10
Q

Developmental milestones in the embryonic period: partitioning of the heart? spinal cord synapses? completely formed heart?

A

Partitioning of the heart = middle of 4th week
Spinal cord synapses = 6-7 weeks
Completely formed heart = 7-8 weeks

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11
Q

Key times* in the embryonic period: neuropore closure? heart begins beating? cardiac loop?

*starred slide on ppt

A

Cranial/rostral neuropore = day 25 (if not anencephaly)
Caudal neuropore = day 27 (if not spina bifida)
The neural tube should be completely formed and closed by day 28.
Heart beating = day 21
Cardiac loop complete = day 28

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12
Q

When is the 1st prenatal visit usually?

A

6-8 weeks from LMP (gestational age)

Date the pregnancy

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13
Q

The fetal period begins when? consists mostly of what kind of development?

A

Fetal period
begins 8 weeks (postconceptual age) or 10 weeks (gestational age)
Primarily consists of growth and maturation

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14
Q

The 2nd trimester begins at week ___. Developmental milestones?

A
Weeks 12-13 
Uterus palpable above pubic symphysis 
Ossification 
Fingers/toes 
Skin and nails
Hair
External genitalia (still ambiguous)
Spontaneous movements
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15
Q

Crown-rump length (CRL) and gestational age

A
12 weeks = 6-7 cm
16 weeks = 12 cm 
28 weeks = 25 cm 
32 weeks = 28 cm 
36 weeks = 32 cm 
39/40 weeks = 36 cm
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16
Q

2nd trimester prenatal visit at approx _____ weeks.

A

15-16 weeks gestation

Offer Maternal Quad Screening (Trisomy 21 and 18)

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17
Q

How many weeks along is the US scheduled for? What else happens during this visit?

A

20 weeks GA

1 hour glu challenge test

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18
Q

Lung development periods and gestational age

A

Week 24 = canalicular period

pregnancy is now considered viable

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19
Q

3rd trimester prenatal visit is scheduled for ____ weeks GA.

A

24-28 weeks

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20
Q

Weeks 28 development

A

Vernix caseosa
Pupillary membrane disappears
A fetus born at this gestational age has ~90% change of survival.

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21
Q

When do you give the mother Rhogam if indicated? Who gets Rhogam?

A

At 28 weeks GA

Rh negative moms with a chance of having an Rh + baby

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22
Q

When do you obtain GBS culture?

A

between weeks 35-37

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23
Q

How often do you schedule prenatal visits after 36 weeks?

A

Weekly

Cervical exams, confirm presentation, signs of labor/pre-eclampsia

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24
Q

Low AVF is called….High AVF is called…

A
Low = Oligohydramnios (Olig-LOW-hydramnios) 
High = Polyhydramnios
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25
Q

Maternal physiology: Plasma volume? Red cell mass? Cardiac output? GFR?

A

Plasma vol = 30-50% above normal
Red cell mass = increases by 20-30% (physiological dilutional anemia)
Cardiac output = increases 30-50% (from 5 L to 7L at 32 weeks)
GFR = increases ~ 50%

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26
Q

Maternal CO changes (preload, SVR, HR)?

A
  • Preload increases due to increased blood volume.
  • Afterload is reduced due to reduced SVR.
  • HR raises 15-20 bpm
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27
Q

How does SVR decrease in pregnant women?

A

Utero-placental circulation = High flow, low resistance system
Vasodilation

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28
Q

How much blood goes to uterus? What is autotransfusion?

A

450-750 mL (@term, 10-12% of CO)
~500 mL of blood sequestered in uteroplacental unit is “autotransfused” to maternal circ following delivery (not good for patients with heart disease).

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29
Q

Infant reflexes: Primitive, postural, and locomotor?

A
Primitive = rooting, suckling, grasping, Moro
Postural = head up, parachute, maintain balance
Locomotor = crawling, stepping, swimming
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30
Q

Discuss adaptation, assimilation, and accommodation

A

Adaptation = changing thinking to make sense of environment
2 components of adaptation = assimilation and accommodation
Assimilation = new info brought into existing schema
Accommodation = modifying old schema or create a new one

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31
Q

Example of adaptation: “Child has a pet corgi and knows it is a dog.
Thinks that all animals with fur and four legs are dogs. Child sees a cat and calls it a dog. Dad corrects her by saying ‘No, that is a cat. Cats meow and dogs bark.’ The child has new information.”

A

Assimilation = dogs bark (new info) and have 4 legs and fur

Accommodation = cats have 4 legs and fur, but they meow

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32
Q

What is temperament? What are the types?

A

Temperament - primary pattern of reacting to environment

Types = easy, difficult, slow-to-warm

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33
Q

What are the 9 dimensions of temperament?

A
Activity
Rhythmicity
Approach/withdrawal
Adaptability
Threshold of responsiveness
Intensity of rxn
Quality of mood
Distractibility
Attention span and persistence
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34
Q

Which temperament dimension?

Degree of motor activity during daily activities (bathing, eating, playing)

A

Activity

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35
Q

Which temperament dimension?

Positive or negative response to a new stimulus

A

Approach or withdrawal

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36
Q

Which temperament dimension?

How predictable or regular is the infant’s schedule?

A

Rhythmicity

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37
Q

Which temperament dimension?

Ease with which the infant modifies his/her responses when confronted with new or changing situations.

A

Adaptability

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38
Q

Which temperament dimension?

How strong does a new situation need to be to cause a change in the infant’s behavior?

A

Threshold of responsiveness

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39
Q

Which temperament dimension?

Degree to which the infant pursues and continues an activity even in the face of obstacles

A

attention span and persistence

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40
Q

Preterm births are ____ overall.

A

decreasing

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41
Q

Low birth weight (LBW) births are ____, particularly the ELBW (extremely low birth weight) infants.

A

increasing

This prevents a decrease in infant/neonatal mortality rate.

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42
Q

What are 3 factors that have decreases infant mortality in the past?

A

ventilators
surfactant
antenatal steroids

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43
Q

When is the perinatal? neonatal period?

A
Perinatal = 28 weeks gestation - 28 days 
Neonatal = Birth - 28 days
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44
Q

What gestation age is considered preterm?

A
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45
Q

What are the weights in grams and death risks associated with LBW, VLBW, ELBW?

A

LBW =

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46
Q

Anemia of prematurity is due to ….

A

frequent blood draws

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47
Q

Tx for patent ductus arteriosus

A

indomethacin

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48
Q

Macrosomia

A

> 4000 g
Commonly seen in infants of diabetic mothers.
Increased risk of brachial plexus injuries during vaginal delivery.

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49
Q

Describe how infant of diabetic mothers (IDM) develop RDS…

A

Hyperinsulinemia –> inhibits cortisol –> decreased surfactant production

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50
Q

How do IDM develop kidney problems?

A

Renal vein thrombosis and hematuria due to…

  • Polycythemia
  • Decreased CO 2ndary to hypertrophic cardiomypathy
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51
Q

Multiple genes with additive effect (explains quantitative effects).

Human examples?

A

Polygenic genes

Height, weight, IQ, BP

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52
Q

Small quantitative effect on the level of expression of another gene.

A

“Modifier” genes

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53
Q

Transmission of info from cell to daughter cells w/o info encoded in nucleotide sequence

A

Epigenetics

  • Does NOT follow Mendelian inheritance
  • Somatically inherite* (not transmitted through meiosis)

*Somatic mutation, genetic alteration acquired by a cell that can be passed to the progeny of the mutated cell in the course of cell division.

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54
Q

Examples of epigenetics

A
X-inactivation
Imprinting 
DNA methylation
histone/chromatin modification
RNA modifiers (non-coding DNA)
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55
Q

Examples of genetic susceptibility to environmental factors

A

Fetal hydantoin syndrome (epoxide hydrolase)

Outcomes in head trauma
ApoE polymorphisms

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56
Q

Genetic deficiencies in ____ activity have been linked w/ aggression.

A

Monoamine oxidase A (MAOA)

  • x-linked gene
  • decreased levels associated with development of antisocial behavior with maltreatment
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57
Q

Gene expression linked with child abuse and suicide

A
Hipocampal NR3C1 (neuron specific glucocorticoid receptor)
- decreased in victims with a history of child abuse
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58
Q

Mechanism of maternal obesity induced programming in offspring

A

147 genes altered (most involved in lipid/carb metabolism)

SREB1 - master lipogenic factor (insulin-induced transcription factor, UP-regulated)

AMPK/PPAR-alpha - FA oxidation, down-regulated

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59
Q

The expression of a train in ONLY one of the sexes due to anatomical differences

A

sex-limited phenotype

60
Q

A phenotype which occurs in both males and females but with different frequencies

A

Sex-influenced phenotypes

61
Q

Huntington’s disease = atrophy of the _____ nucleus.

A

Caudate

CAG tri-nucleotide repeat

62
Q

In Huntington’s disease, age of onset correlated with size of CAG repeat – but this only accts for 50% of variability in onset. What other gene variations are responsible?

A

TP53

Human Caspase Activated DNase (hCAD) genes

63
Q

Bilateral lip pits

A

Van derWoude syndrome - a gene at chromosome 17 w/ the VWS gene at chromosome 1

64
Q

Epigenetic gene regulators can be found in _____…

A

Non-coding region of DNA/RNA (ncDNA)

65
Q

different genes at different loci produce the same phenotype

A

Genetic (locus) heterogeneity

66
Q

Virchow’s triad

A
Vessel wall abnormalities
- atherosclerosis
Changes in blood composition
- thrombosis
Venous stasis (e.g. long-distance air travel, environmental)
67
Q

Genes associated with atherosclerosis (lipid metabolism)

A
Lipoprotein A
Apolipoproteins
Cholesterol ester transfer protein
Lipoprotein lipase
Paraoxynase
68
Q

Genes associated with atherosclerosis (Blood pressure)

A

ACE
Angiotensin receptor, type 1
Angiotensinogen (AGT)

69
Q

Processes involved in atherosclerosis

A
Lipid met
BP
Inflammation/Leukocyte adhesion
- VCAM, CRP, MCP-1
Insulin resistance
- pear-shaped body type
Endothelial properties 
- connexin, collagen I + III, laminins
70
Q

Rare genetic disorder characterized by…

MR, marfanoid habitus, lens dislocations, thrombosis

A

Homocystinuria - elevated levels of homocysteine.

  • Cystathione beta-synthase (CBS)
  • Methylene Tetrahydrofolate reductase (MTHFR)
  • methionine synthase (MS)
71
Q

Protein ____ deficiency can lead to a state of hypercoagulability. This disease has a severe form of thrombosis called _____.

A

Protein S

Purpura fulminans - severe clotting throughout the body

72
Q

Whats the difference between types 1 and 2 anti-thrombin III deficiencies?

A

Type 1 = not enough ATIII

Type 2 = adequate ATIII levels, but does NOT function properly

73
Q

Hereditary causes of VTE

A
Dysfibrinogenemia
Homocystinuria
Protein C def
Protein S def 
ATIII def (I and II)
Prothrombin (factor 2) mutation
Activated Protein C resistance 
- Factor V Leiden Mutation
Hyper-homocysteinemia
- MTHFR, CBS mutations
74
Q

What is Protein C’s normal activity in the coag cascade?

A

Protein C degrades Factors V and VIII

75
Q

MTHFR C667T mutation is assoc with increased risk of…

A
Arterial + Venous thrombi
NTD's
Pregnancy loss
Placental abruption
Hypoxic-ischemic encephalopathy (HIE)
76
Q

Modes of transmission for infections - Congenital, perinatal, and neonatal?

A
Congenital = hematogenous spread
Perinatal = vertical transmission
Neonatal = environmental
77
Q

Which bugs are in the infection prenatal screen?

A
Rubella
Syphilis
HIV
GBS
Chlamydia
Gonorrhea
Hep B + C
78
Q

What does TORCH stand for?

A
Toxoplasma
Other (HIV, Syphilis) 
Rubella 
CMV
Herpes
79
Q

CMV

A

Most common utero viral infection

  • 90% asymptomatic at birth, develops hearing loss later
  • Thrombocytopenia
  • Tx: Gancyclovir (improves hearing outcome), can lead to pancytopenia
80
Q

Syphilis

A
Treponema pallidum
Screen = RPR, VRDL
Dx = FTA-Abs (+ for life) 
Presentation: 
- Maculopapular rash on palms/soles
- Hutchinson teeth 
Tx = penicillin
81
Q

HIV

A

Dx at birth = HIV DNA PCR
- 14 -21 days, 1-2 mo, 4-6 mos
Tx within 6 hrs = AZT
Avoid breast feeding

82
Q

Neonatal sepsis defined as…

A

Clinical syndrome in an infant

83
Q

Early onset vs late onset neonatal sepsis

A

Early = perinatal, within 48-72 hours of birth
- vertical transmission only

(Exception GBS sepsis can present as early or late)

Late = after 3 days of life (up to 7 days for GBS)
- vertical OR horizontal transmission

84
Q

What is horizontal transmission?

A

Environment or care-providers infect neonate

85
Q

What are the major bugs of early onset neonatal sepsis? late onset?

A

Early = GBS, E. coli

Late = GBS, E. coli + Staph aureus

86
Q

GBS infection in pregnant women can lead to…

A

premature rupture of membranes and preterm delivery

87
Q

What is the most important test for definitive dx of neonatal sepsis?

A

Blood culture!

88
Q

What is the treatment for early onset neonatal sepsis? late onset?

A

Early = Ampicillin + gentamicin

Late = Amp + Gent + Staph coverage (vanc or naf)

89
Q

Chlamydia

A
  • causes fever, cough, conjunctivitis within 6 weeks of life
  • Tx for mom = Azithromycin
  • Tx for baby = Erythromycin

Intacytoplasmic inclusion bodies

90
Q

Neonatal herpes simplex

A
85% perinatal infection
- suspect up to 6 weeks of age 
- tx acyclovir 
Labs:
- thrombocytopenia
- acute liver failure
- CSF pleocytosis
Presentation 
- mucocutaneous vesicles 
- seizures
- neural deficits
91
Q

Disseminated candida

A

thrombocytopenia
hyperglycemia
high mortality
associated with w/d of long-term abx tx

92
Q

Common causes of Respiratory distress (5)

A
  • respiratory distress syndrome
  • meconium aspiration syndrome
  • pneumonia
  • transient tachypnea of the newborn
  • bronchopulmonary dysplasia
93
Q

Signs/symptoms of respiratory distress

A
nasal flaring
grunting
retractions
tachypnea (> 60)
decreased air entry
cyanosis
94
Q

Stages of lung development + gestational age

A
Embryonic = 0-5 wks
- trachea + bronchi
Psuedoglandular = 5-16 wks
- non-respiratory bronchioles
Canalicular = 16 - 25 wks
Terminal Sac = 25-36 wks
- Alveolar ducts 
Alveolar > 36 weeks
95
Q

RDS features

A
Radiographic:
- Ground-glass appearance 
- homogenous, symmetrical
- Air bronchograms
Histologic = hyaline membranes + collapsed alveoli
96
Q

Which lung cells produce surfactant?

A

Type 2 pneumocytes

97
Q

How does surfactant work?

A

decreases surface tension and maintains alveolar distention

LaPlace’s Law = smaller radius, higher P

98
Q

Meconium Aspiration syndrome

A

Term baby
Fluid stained with meconium

Radiologic features:
-Coarse markings
- asymmetrical
- hyperinflation/consolidation
- air leaks (pneumothorax)
MoA:
- mechanical and chemical obstruction
- surfactant inactivation
- increased pulmonary resistance
99
Q

Persistent pulmonary HTN of the newborn (maladaptation vs maldevelopment)

A

Maladaptation = increased PVR due to hypoxia, asphyxia, sepsis or aspiration

Maldevelopment = PVR due to abnormal pulmonary vascular bed.. pulmonary hypoplasia or diaphragmatic hernia

100
Q

Increased PVR leads to ____ pulmonary blood flow and _____ to ____ shunt.

A

Decreased

R –> L shunt

101
Q

Transient tachypnea of the newborn is associated with what kind of delivery? explain.

A

Full term baby delivered by C-section

Vaginal delivery usually helps squeeze out amniotic fluid in lungs.

102
Q

What are indications that respiratory distress is due to cardiac cause (not pulmonary)?

A

Cyanosis unrelieved by 100% O2

103
Q

What are the 5 T’s of cyanotic heart disease?

A
Transposition of the great vessels
Truncus arteriosus
Tricuspid atresia
Tetralogy of Fallot
Total anomalous pulmonary venous return
104
Q

Define pneumothorax

A

air between the parietal and visceral pleura

Decreased breath sounds and increasing chest diameter on affected side

Deviation of trachea

105
Q

What do you do for diaphragmatic hernia?

A

Immediate intubation

106
Q

Bronchopulmonary dysplasia

A
cystic areas
interstitial fibrosis
atelectasis
hyperinflation
caused by prolonged O2 use
107
Q

Where is the mtDNA content highest?

A

brain > muscle > heart > kidneys > liver

high ATP demand

108
Q

What is replicative segregation/drift?

Homosplasmic vs heteroplasmic

A

Cytokinesis with partitioning of different mitochondria into different daughter cells

Homoplasmic = single mtDNA sequence in given cell (each daughter cell with have same mtDNA)

Heteroplasmic = more than 1 mtDNA sequence in other cell (each daughter cell will have different mtDNA)

109
Q

Mitchondrial DNA pattern of inheritance

A

Maternal inheritance =

Only females pass it on, and ALL offspring are affected

110
Q

Bottleneck phenomenon

A

Restriction and subsequent amplification of mitochondrial DNA in oogenesis

Reduces diversity!!

111
Q

Example of threshold expression of phenotype

A
Aminoglycoside toxicity (oto-)
- A1555G confers sensitivity to aminoglycosides
112
Q

What are some general features of mitochondrial DNA?

A
circular
double stranded 
no introns 
different DNA code than nuclear DNA
higher mutation rate
113
Q

When does OXPHOS activity (# of mitochondria) rise then decline?

A

Rises in last half of gestation and first 10 years of life

Gradual decrease to adult levels by about 20 years old

114
Q

Semiautonomous inheritance

A

Mitochondrial DNA replicates and segregates in daughter cells INDEPENDENT of nuclear chromosomes

115
Q

What is DIDMOAD?

A

Diabetes insipidus
Diabetes mellitus
optic atrophy
and deafness

due to mitochondrial mutations and/or autosomal gene on 4p16

116
Q

Is there a correlation between genotype and phenotype when it comes to mtDNA mutations?

A

NO!

dissociation of genotype and phenotype –> wide-range of intrafamilial variability

117
Q

Discuss how mitochondria are associated with the aging process.

A

Somatic mutations accumulate in post-mitotic tissues with age

118
Q

What does the clinical phenotype of mitochondrial dysfunction depend on?

A
  1. Level of heteroplasmy
  2. Distribution of heteroplamsy (which cells affected?)
  3. modifier genes (nuclear genome)
  4. Time (allows for more mutations)
  5. Threshold effect
119
Q

44% of the mitochondrial disorders present in childhood as ______ problems.

A

Neuromuscular
- weakness and elevated CPK levels

Remaining 56% are non-neuromuscular (liver, heart, kidney, GI, endocrine, hematologic, dermatologic)

120
Q

List some of the adult presentations of mitochondrial disorders

A
vision loss 
myopathies
ataxia
neuropathy
diabetes
deafness
121
Q

What are ragged red muscle fibers? ** (IMPORTANT)

A
  • Pathognomonic for mitochondrial disorder!!

- Abnormally shaped cristae, paracrystalline inclusions, clumped oxidative enzymes, increased neutral lipids in muscles

122
Q

With mitochondrial syndromes, multiple phenotypes are associated with the same mutation. True or False?

A

True!

123
Q

What are lamins?

A

Multifunctional filamentous proteins of the nuclear lamina, just under the inner nuclear membrane

124
Q

Hutchinson-Gilford Progeria is caused by…

A

mutation in nuclear lamins

progeria = premature aging

125
Q

Glycosylation occurs in which subcellular organelle?

A

Rough endoplasmic reticulum

126
Q

What test do you run for congenital disorders of glycosylation?

A

Transferrin isoelectric focusing

- proteins will have different migratory patterns

127
Q

CDG Type 1 - interesting clinical feature according to Schaeffer?

A

Inverted nipples

128
Q

Hunter syndrome is an example of ___________ disease.

A

Lysosomal storage disease

Hunter syndrome =
x-linked (only boys affected), mucopolysaccharidosis,
hydrolase deficiency

129
Q

Zellweger syndrome is a type of ______ dysfunction.

A

Peroxisome

130
Q

Epidermolysis bullosa is associated with which subcellular organelle?

A

cytoskeleton

Epidermolysis bullosa - blistering of skin, caused by mutation in cytoskeletal keratins, keratin-5, or keratin-14 genes

131
Q

Cilia and flagella have a _____ structure.

A

9-2 dynein

132
Q

______ syndrome is an example of disorder of motile cilia.

A

Kartagener syndrome (also called primary ciliary dyskinesia)

  • situs inversus
  • infertility
  • chronic respiratory abnormalities
133
Q

Germinal matrix (GM) hemorrhage and grading

A

Grade:
1 = caudo-thalamic groove
2 = intraventricular hemorrhage w/ normal sized ventricles
3 = intraventricular hemorrhage w/ dilation
4 = parenchymal hemorrhage

134
Q

Does GM hemorrhage occur in full-term babies?

A

NO!

Only occurs in pre-term babies because the GM is gone by 35 weeks gestation.

By 32 weeks, GM is only at the caudothalamic groove (grade 1)

135
Q

GM hemorrhage associated with…

A

LBW and cyanotic congenitla heart disease

136
Q

Premature infant or full term infant with CHD
abdominal distention, increased residuals, blood in stool
apnea and bradycardia
acidosis
… What is this clinical picture describing?

A

Necrotizing Enterocolitis

137
Q

Buzz words (3 P’s) for NEC

A

Pneumatosis intestinalis
Pneumoperitoneum
Portal venous gas

138
Q

What are the upper GI findings of mid-gut volvulus?

A

duodenum not retroperitoneal
duodenal obstruction
corkscrew duodenum

Contrast will very slowly leak past the volvulus

139
Q

double bubble sign

A

duodenal atresia (could also be annular pancreas)

No contrast leaks past the atresia!

140
Q

What condition is duodenal atresia associated with?

A

Down syndrome

30% have trisomy 21

141
Q

Hirschsprung’s

A

Absent ganglion cells in a portion of the colon

Rectosigmoid ration

142
Q

Small left colon syndrome

A

AKA meconium plug syndrome or immature colon

infants of diabetics
splenic flexure transition
self-limiting

143
Q

Ileal atresia

A

Micro-colon - these babies never get meconium in their colon to cause it to dilate

Due to an ischemic event in utero

significant narrowing or complete absence of portion of small bowel

144
Q

Which brain imaging do you do first in neonates?

A

Ultrasound

Windows for imaging =
anterior and posterior fontanelles
mastoid

145
Q

Cavum septum pellucidum

A

is a persistence of the embryological fluid-filled space between the leaflets of theseptum pellucidumand is a common anatomical variant. The CV is sometimes referred to as the 6th ventricle.

146
Q

What is the most common ischemic brain injury in premature infants?

A

Periventricular leukomalacia - white matter adjacent to the ventricles. Results from hypotension, ischemia, and coag necrosis at the border or watershed zones of deep penetrating arteries of the middle cerebral artery (MCA)

(also a complication of GM hemorrhage)

147
Q

Neonatal hypoxic ischemic injury

A

compromised gas exchange
marked redistribution of blood flow
- increase in flow to brain, heart, and adrenals
- decrease in flow to kidneys, bowel, and skin