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MOD Midterm > Diseases Of Infancy And Childhood - Dobson > Flashcards

Diseases Of Infancy And Childhood - Dobson Flashcards

1
Q

Malformation

A

Intrinsic abnormal developmental process (gene or chr defect)
EX: polydactyl, syndactyly, cleft lip)

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2
Q

disruptions

A

Destruction of an organ that was previously normal (extrinsic disturbance in morphogenesis), usually environmental
EX: amniotic bands

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3
Q

Amniotic bands

A

Amnion ruptures forming bands that encircle + compress the fetus
(No known cause)

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4
Q

Deformations

A

Extrinsic disturbance in development by abnormal biochemical forces (uterine constraint) = compresses fetus (small uterus or maternal problems, or fetal or placental , like low amounts, problems)
EX : potters sequence (from oligohydraminos)

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5
Q

Sequence

A

1 defect causes many other congenital defects

Or one causes can make all malformation, disruption, and deformation happen in one place)

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6
Q

Potters sequence causes

A
  1. Leakage of amniotic fluid (rupture)
  2. Uteriplacental insufficiency (maternal HTN, severe toxemia)
  3. Renal agenesis of fetus (urine unable to be excreted ——> amniotic fluid)
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7
Q

Potters sequence SX:

A
  1. Flattened face, positional abnormalities in hand and feet (clubbed)
  2. Dislocated hips, breeches presentation
  3. Pulmonary hypoplasia
  4. Amnion nodosum
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8
Q

Agenesis

A

Complete absence of an organ , no primordium of it either

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9
Q

Aplasia

A

Absence of organ however the primordium is present

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10
Q

Atresia

A

X opening in a hollow organ (trachea or esophagus usually)

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11
Q

Dysplasia

A

Normal cells and size only wrong place or area (abnormal organization)

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12
Q

2 genetically causes for congenital disease in fetus

A
  1. Chr aberration

2. Mendelian inheritance (gametogenesis)

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13
Q

Holoproscencephaly

A

Forebrain and mid face defect most common due to no shh signaling (Mendelian inherited mutation)

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14
Q

5 drugs that cause fetal malformation = tetragens

A
  1. Thalidomide = limb malformation
  2. 13-cis-retinoic acid (derm treatment, form of VIT A)
  3. Warfarin (HTN)
  4. Anti-convulsants
  5. Alcohol
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15
Q

What does alcohol do

A

Microcephaly, maxillary hypoplasia, palpebral fissures, low growth

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16
Q

Nicotine intake and fetus

A

Can cause spontaneous SIDS

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17
Q

DM and fetus

A

Can cause

  • fetal hyperinsulinemia = macrosomia (high body fat and muscle mass)
  • cardiac, CNS problems
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18
Q

What decreases the rates of neural tube defects in fetus

A

folic acid intake of mother

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19
Q

Embryo is most susceptible to terogenesis when

A

Week 3- week 9

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20
Q

Cyclopamine and fetus

A

Plant that ——I SHH (eaten usually by sheep) = causes face abnormalities, holoprosencephaly, cyclopia

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21
Q

Valproic acid and fetus

A

———I HOX genes (limb, craniofacial, vertebrae structures)

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22
Q

VIT A (RETINOL) and fetus

A

If excessive ——I TGF-B: CNS, cardiac, cleft plate, cleft lip

Needed in moderation for healthy lung, cardiac, GU, eyes, diaphragm health

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23
Q

1st and 2nd most common neonatal death reasons

A

1st : congenital anomalies

2nd : prematurity

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24
Q

Prematurity is defined as

A

Less then 37weeks

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25
Q

Reasons for prematurity

A
  1. Preterm premature rupture of placental membrane (PPROM)
  2. Intrauterine infection
  3. Uterus, placental, cervical structural abnormalities (uterine fibroids, placenta Previn, abruptio placentae)
  4. Multiple gestation (twins)
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26
Q

PROM

A

Spontaneous ROM AFTER 37 weeks, less fetal problems then PPROM

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27
Q

Intrauterine infection and fetus

A

Most common cause of preterm, (inflammation of placenta membranes = chorioamnionitis, inflammation of umbilical cord = funishitis)

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28
Q

Most common intrauterine infections

A
  1. Ureaplasma urealyticum
  2. Mycoplasma hominis
  3. Gardnerella vaginalis
  4. Trichomonas
  5. Gonorrhea
  6. Chlamydia
  7. Malaria and HIV in developing countries
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29
Q

Risks of having PPROM

A
  1. Neonatal RDS (hyaline membrane disease)
  2. Necrotizing enterocolitis
  3. Sepsis
  4. Intraventricular + germinal matrix hemorrhage
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30
Q

Underground definition

A

Born at term only underweight , due to fetal growth restriction

  1. Fetal issue (chr disorder, congenital anomalies, congenital infection)
  2. Maternal issue (preeclampsia, chromic HTN, thrombophilias, malnutrition, drugs/alcohol)
  3. Placental issue (uteroplacental insufficiency)
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31
Q

Ways there can be uteroplacental insufficiency

6

A
  1. Umbilical-placental vascular anomalies——> 1 umbilical A, cord inserted not right, placental hemangioma
  2. Placental abruption
  3. Placental thrombosis/ infarction
  4. Placenta previa
  5. Many gestation said
  6. Placental infection
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32
Q

What type of infection is usually involved in the fetal abnormalities causing undergrowth

A

TORCH group

- (toxoplasmosis, rubella, cytomegalovirus, herpesvirus, syphilis)

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33
Q

Another name for RDS

A

Hyaline membrane disease

= hyaline is deposited in the peripheral airspaces

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34
Q

Other ways newborn can have respiratory distress that is not RDS

A
  1. Excessive sedation of mother
  2. Fetal head injury
  3. Aspiration of amniotic fluid or blood by fetus
  4. Umbilical cord coiling around neck = intra-uterine hypoxia
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35
Q

Clinical signs for newborn with RDS

A
  1. Preterm + normal weight for that gestational age
  2. C-section, maternal DM, and male fetus has higher risk
  3. Resuscitation causes normal breathing and color
  4. After 30 min : hard breathing and cyanosis again + rales
  5. X-ray : ground-glass picture
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36
Q

RDS % chance if norm at or below 28weeks

A

60%

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37
Q

Reason for RDS to happen

A

Low surfactant : SP-B (hydrophobic, is most important)

= genes SFTPB and STFBC

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38
Q

What stimulates.acted the synthesis of surfactant

A

Glucocorticoids *

TGF-B, thyroxine, prolactin, insulin, cortisol

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39
Q

Reason c-section increases RDS

A

Labour squeezes out fluid in lungs + labour increases surfactant synthesis

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40
Q

Reason DM increases RDS

A

High insulin inhibits steroids to activate type 2 cells to make surfactant

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41
Q

What does an RDS infants lung look like if they dont make it

A

Solid, purple, liver-like, sinking in water, necrotic tissue + Eosinophilic hyaline membrane *

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42
Q

What happens in RDS that leads to necrotic tissue and fibrin deposition = hyaline membrane

A
  1. Prematurity
  2. Low surfactant + high ST
  3. Atelectasis (stiffening)
  4. Hypoventilation, uneven perfusion
  5. high CO2, and hypoxemia
  6. Acidosis + pulmonary vasoconstriction
  7. Pulmonary hypoperfusion
  8. Endothelial damage , epithelial damage = plasma leaks to alveoli
  9. Fibrin and necrotic cells make hyaline membrane
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43
Q

How to measure is a fetus has surfactant in synthesis

A

Level of phospholipids measured

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44
Q

What can happen if baby is on O2 ventilators for too long

A
  1. Retrolental fibroplasia (VEGF decrease= apoptosis then increase = vascularization causing lesions)
  2. Bronchopulmonary dysplasia (TNF, IL6, IL8, IL1B increased)
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45
Q

3 other complications besides RDS premature infants are at high risk of

A
  1. Necrotizing enterocolitis
  2. Intraventricular hemorrhage
  3. Ductus arteriosus
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46
Q

What factor increases necrotizing enterocolitis

A

PAF , increasing mucosal permeability = enterocytes apoptosis = more holes in lumen = inflammation more damage

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47
Q

What is usually the cause of necrotizing enterocolitis

A

Introduction of some bacteria ——> inflammation and tissue destruction

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48
Q

Clinical signs of necrotizing enterocolitis

A
  1. Bloody stools
  2. ABD distention (gas in intestinal wall= pneumatosis intestinalis)
  3. Circulatory collapse
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49
Q

What does necrotizing enterocolitis become after a while and also what part of GI does it usually involve

A

Terminal ileum, cecum, right colon

Fibrosis

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50
Q

2 ways fetus can get an infection

A
  1. Transcervially : ascending

2. Transplacentally : hematologic

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51
Q

Transcervical infection = ascending

A 
From cervix and vagina (in utero or during delivery)= by inhaling infected amniotic fluid 
Usually bacteria (some virus like herpes) = pneumonia, sepsis, meningitis
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52
Q

Reason transcervical infections happen more in preterm

A

Infection causes inflammation and also a lot of N ——> Prostaglandins released = contractions + amniotic sac rupture

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53
Q

Transplacental infections = Hematologic

A 
Mostly parasitic (toxoplasma, malaria)+ viral + some bacterial (Listeria, Treponema)
= through chorionic villi into placenta , at any time in gestation
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54
Q

How does Parvovirus B19 infect the fetus

A

Transplacentally : erythema infectiosum “5th disease of childhood” during older ages of child, mother if non-immune can get this)
= viral infection or erythroid progenitor cells

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55
Q

TORCH infections infect fetus how

A

Transplacentally

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56
Q

SX: TORCH group infections

A
  1. Fever
  2. Encephalitis
  3. Chorioretinitis
  4. Hepatosplenomegaly
  5. Pneumonitis
  6. Myocarditis
  7. Hemolytic anemia
  8. Vesicular or hemorrhagic skin lesions
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57
Q

What are the TORCH infections

A 
T : toxoplasmosis
O : other agents
R : rubella 
C : cytomegalovirus 
H : herpes
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58
Q

Early sepsis SX:

A

Pneumonia, sepsis, sometimes meningitis after birth (day 4,5)

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59
Q

EX of early onset sepsis

A

Group B streptococcus, early onset bacterial meningitis

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60
Q

EX: of late onset sepsis

A

Listeria and candida (latent period is long)

61
Q

Fetal hydros are what

A

Accumulated fluid = edema during intrauterine growth

62
Q

Immune hydrops

A

Rh incompatibility = hemolytic anemia

63
Q

Non-immune fetal hydrops

2 types

A
  1. Hydrops fetalis : progressive , generalized edema ——> usually fatal
  2. Cystic hygroma: localized edema (pleural and peritoneal effusion)(postnuchal fluid accumulation)
64
Q

TORCH infections cause what kind of hydrops

A

Non-immune

65
Q

How to Rh incompatibility happen

A

Rh - MOM and Rh + DAD

66
Q

Rh incompatibility 1 and 2nd pregnancy has what AB made

A

1st : IgM = cant cross placenta

2nd : IgG = can cross placenta

67
Q

Rh incompatibility causes what to fetus

A

Anemia ——> cardiac decompensation ——> Hydrops

RBC degradation ——> Jaundice an Kernicterus

68
Q

What TX: Rh incompatibility

A

Rhesus Ig (RhIg) = anti-D ABs at 28 weeks and 72hr before delivery

69
Q

ABO incompatibility happens when in fetus and mom

A

MOM = O
Fetus = A or B or AB
*both 1st and 2nd pregnancy can be effected ——> hemolytic anemia however usually not severe

70
Q

Cardiac decompensation causes

A

Vasoconstriction

71
Q

Kernicterus

A

Unconjugated bilirubin deposited in CNS brain

72
Q

5 main causes of non immune fetal hydrops

A
  1. Cardio defects
  2. Chr anomalies (dysmorphic features**)
  3. Fetal anemia (from a-thalassemia homozygous = all a-globins deleted)
  4. Virus (parvovirus B)
  5. Twins (anastomoses between circulations)
73
Q

Hydrops due to anemia makes fetus and placenta look

A

Pale

Large liver and spleen from cardiac failure + congestion

74
Q

What does brain look like in Kernicterus

A

Large and edematous

Yellow esp basal ganglia . Thalamus, cerebellum , grey matter and spinal cord

75
Q

Erythroblastosis fetalis

A

Large amount of hematopoiesis = many immature reticulocytes, normoblasts, erythroblasts
= usually in liver during non immune hydrops

76
Q

Clinical signs of hydrops

A

Pallor, hepatosplenomagaly, jaundice , edema , can cause CNS injury

77
Q

How are inborn metabolic disease usually inherited

A

Autosomal recessive or X- linked

78
Q

PKU what is it and demographics

A

Most common in Scandinavia
LEAST common in AA and Jews
X Phenylalanine Hydroxylase or X Dihydropteridine reductase
= Hyperphenylalaninemia

79
Q

PKU Sx:

A

Mental problems, eczema, hair and skin low pigmented, seizures as early as 6mo
Some can never talk or walk if not TX in time
MUSTY URINE

80
Q

Maternal PKU

A

If phenylalanine intake is not controlled in mothers with PKU, fetus is born with mental problems and congenital heart disease = Phenylalanine crosses placenta

81
Q

Benign hyperphenylalaninemia

A

Partial defect on PAH = no CNS problems, only elevated Phe

82
Q

Non-classic PKU

What is and about TX

A

X DHPR = X BH4

TX: dietary restrictions of Phe will NOT work

83
Q

Galactosemia

A

Accumulation of galactose-1-phosphate

X galactose-1-phosphate uridyl transferase (GALT) (some have X glucokinase, milder)

84
Q

how is galactose formed and broken down beginning 2 steps

A
  1. Lactose = galactose + glucose (lactase)

2. Galactose broken down by (Glucokinase and then GALT, then UDP-galactose-4-epimerase) ——> UDP-glucose

85
Q

Where does galactose-1-phosphate accumulate in galactosemia

A

Liver (cirrhosis and hepatomegaly) , spleen, eye lens (cataract), kidney (aminoaciduria) , heart, cerebral cortex (edema, nerve loss, gliosis), RBCs
GALACTOSE-1-PHOSPHATE ———> GALACTITOL + GALACTONATE

86
Q

What part of the brain is most effected in the galactosemia

A 
Dentate nuclei (cerebellum)
Olivary nucleus (medulla)
87
Q

Fetus with galactosemia SX:

A

D, V, jaundice (from milk ingestion), after 3 weeks you see cataracts, after 6mo you see mental problems
You can see Hemolysis and coagulopathy

88
Q

Older pt with galactosemia are in higher risk of

A

Ataxia, speech problems, gonadal failure

89
Q

CF is what and what locations

A

X CFTR in Respiratory, GI, Reproductive areas

* most common in caucasians

90
Q

What are the mutations in CF

A

Steatorrhea, chronic lung disease secondary to recurrent infections, pancreatic insufficiency, malnutrition, hepatic cirrhosis, SIO, male infertility

91
Q

SX of heterozygous CF

A

Higher Respiratory + Pancreatic diseases

92
Q

CFTR gene and function

A

7q31.2

Cl- channel (usually out), in response to cAMP

93
Q

How do K+ and NA+ move

A

Inward

Na+ uses ENaC

94
Q

ENaC inhibited by what

A

CFTR

95
Q

CF what happens to ENaC, normally (in Resp and GI)

A

Activity increases and more Na+ goes into cell = dehydrated mucous on outside of RESP and GI cells (PLUS Cl- can’t leave cell)

96
Q

One exception to CFTR action on ENaC

A

SWEAT GLANDS
= CFTR activates ENaC (so during CF, Na+ cant enter cells and Cl- cant ENTER cell)
= SALTY skin**

97
Q

Reason a dehydrated mucus membrane can lead to complications

A

= makes a isotonic + low volume surface fluid layer

  1. Defective mucociliary action
  2. Accumulation and secretion of Viscid products = pulmonary infections
98
Q

CFTR role in HCO-3

A

Activates SLC26 to secrete HCO-3
When CF (lumen becomes acid)
= pancreatic insufficiency*****

99
Q

What other non- CF conditions can happen with X CFTR

A
  1. Idiopathic chronic pancreatitis
  2. Chronic pulmonary disease (late-onset)
  3. Idiopathic bronchiectasis
  4. Obstructive azoospermia (no vas deference)
100
Q

Classic CF SX:

A

Mutated class 1,2,3

  1. Pancreatic insufficiency
  2. Sinopulmonary infections
  3. GI symptoms
    * ***atypic CF, or non-classical CF
101
Q

Class involved in mild CF

A

Class 4 and 5

102
Q

3 modifiers that play a role in preventing lung infection and GI good

A

TGF-B, MBL2, IFRD1

= CF can be increased risk in low amounts of this

103
Q

What causes chronic or acute lung infection

A

Colonization of (Peudomonas aeruginosa, Haemophilus influenzae, Staph)** secreting Alginate (protect against ABs and immune system)

104
Q

Meconium Ileus

A

SIO happening form viscid plugs of mucus form CF

105
Q

What do most pt with later onset CF come in with

A

meconium ileus (palpable or pain in RLQ)

106
Q

What is and happens in pancreatic insufficiency

A

Low protein and fat absorption
(Loss of fat and VIT A,D,K) ——> foul smelling feces
(Loss of protein)——> can lead to generalized edema

107
Q

2 most common reasons for death in CF

A

Cardiopulmonary complications

Liver failure or cirrhosis

108
Q

CF that usually get resistance to anti bacteria to Pseudomonas

A

One mild allele and one severe allele

109
Q

SIDS

A

Sudden death under 1yo, no reason even after autopsy, history, and death scene examination (if you can see in autopsy = SUDS)
* most common between 2mo-4mo

110
Q

Most common SIDS

A

Death during sleep especially in prone or side position

111
Q

SIDS more common in what fetus

A

Premature

112
Q

SIDS usually happens due to what

A
  1. Delayed arousal and cardiorespiratory control (medulla, and brain stem) : 5-HT activated this area
  2. Or respiratory previous infection or male
113
Q

Laryngeal chemoreceptors role in SIDE

A

Inhibits cardiorespiratory reflex = no swallowing and clearing airways during PRONE + respiratory infection

114
Q

Reasons fro SUDS

A

Infections
Fatty acid oxidation disorders
And others

115
Q

Heterotopia (choristoma)

A

Normal cells and tissue in wrong location

  • can be confused as neoplasm
  • rarely become neoplasm only if it does it will be confusing to find
116
Q

Hamartoma

A

Overgrowth of a cell in a tissue (like a benign growth)

117
Q

Hemangioma is what

A

Most common in infancy
Can happen in capillaries and veins if skin on face, scalp (red-blue masses + flat lesions = port-wine stains
= regresses on its own with cosmetics also

118
Q

When do you mostly see hemangiomas

A

In the Hippel-Linda’s disease (mutation in CCM, cerebral cavernous malformation, genes)

119
Q

Lymphangiomas

Lymphangiectasis

A
  1. Neoplasm or hamartoma of lymph nodes (neck, axilla, mediastinum, retroperitoneal tissue), travel and extend
  2. Dilated lymph vessels (usually in any locations, extremities)
120
Q

Fibrous tumors are what

A

Of the spindle-shaped cells= fibromatosis

Many lesions = congenital infantile fribrosarcomas

121
Q

congenital infantile fribrosarcomas happens due to

A

Translocation of t(12;15)(p13;q25) = ETV6-NTRK3 fusion transcript

122
Q

Most common teratoma and when do they happen

A

First at around 2yo second at around early adult or late adolescence
Sacrococcygeal teratomas, more common in girls and 10% congenital form hindgut/cloaca formation

123
Q

Where do teratomas usually occur

A

Genitals, ovaries

Midline structures

124
Q

What is a teratoma

A

Germ cell neoplasm, any cells type (hair, bone, muscle)

125
Q

Most common areas for neoplasms in infants

A

CNS, adrenal medulla, retina, soft tissue, bone, kidney

126
Q

Small round blue cell tumors

A

How cells of neoplasm in children look

127
Q

Neuroblastoma

A
  • adrenal gland nerves, some go away on own, DUE TO MYC amplification*
    SX: ABD pain , can feel ABD mass, D or C, fever,
    (Older children : bone pain, respiratory probs, GI probs)
    (Neonates, many blue discolorations)
128
Q

Wilms tumor

A
  • in kidney
    SX: ABD swelling, sometimes palpable mass, ABD pain
    (Nephroblastoma)
129
Q

Hepatoblatoma

A
  • in liver
130
Q

Rhabsomyosarcoma

A
  • in skeletal muscles (sometimes bladder and uterus)

SX: swelling of eyes, nose bleeds, headache , swollen leg or arm

131
Q

Erwing sarcoma

A
  • posterior fossa neoplasm

Bones and soft tissue around bones (usually leg and pelvis)

132
Q

Ependymoma

A
  • cells that line CSF (ependymal cells) in brain and SC
133
Q

Neuroblastic tumor

A

From sympathetic ganglia, adrenal medulla : FROM NCC

  • spontaneous or therapy induced differentiation into mature cells
  • DUE TO ALK GENE* (germline)
134
Q

Blue berry muffin baby happens when

And how to TX:

A

During neonate neuroblastoma , form high CATECHOLAMINES (shows as high VMA and HVA in urine)
TX: Florescent light : NO MYC AMPLIFICTION

135
Q

What determines success of tx neuroblastoma

A
  1. Age and stage (stage 1, 2A, 2B have best outcome)
  2. X application of MYC
  3. Schwann cells present
  4. Hyper-diploid
136
Q

When can neuroblastoma be TX

A

All stage can be before 1yo, or at most 18mo

After that mild and intermediate usually can

137
Q

Which type of neuroblastoma regresses on its own

A 
4S class
In liver, BM, and skin
138
Q

Near-diploid vs hyper-diploid

A

The hyper-diploid has high prognosis
Near-diploid: many chr are effected (chromothripsis : when random fragments combine)
(Part of neuroblastoma)

139
Q

Wilms tumor involves what

A 
Both kidneys 
(Together = synchronous , one then the other = metachronous)
140
Q

What type of mutation in wilms tumor

A

Germline deletion in gene 11p13 WT1 + PAX6 deleted

2-hit theory

141
Q

WAGR syndrome

A

Increases risk to get Wilms tumor when both PAX6 and WT1 are deleted due to 11p13 deletion

142
Q

If only PAX6 is deleted

A

Sporadic aniridia, no wilms tumors

143
Q

Only WT1 deletion

A

Nothing if only 1st hit

144
Q

Denys-Dash syndrome

A

X zinc finger of WT1 so cant bind to DNA(dominant)

  1. Wilms tumor
  2. Gonadoblastoma
  3. Gonadal dysgenesis (male female features + renal failure)
  4. Diffuse mesangial sclerosis (glomerular lesions)
145
Q

Bench with-Wiedemann syndrome

A

Organomegaly, abnormal large cells in adrenal cortex

X 11p15.5 (WT2)= over expressed IGF-2 + increased risk for Wilms tumor, liver, pancreas, adrenal, skeletal muscle tumors

146
Q

B-cat in wilms tumor

A

Upregulated in 10%

147
Q

Histology of wilms tumor

A

Anaplasia

Lesions with blastema, stromal, epithelial cells

148
Q

Histology of neuroblastoma

A

Eosinophilic fibrillation material (N), Homer-Wright peudorosettes, catecholamine containing granules, ganglion cells in many different differentiation stages = gangioneuroma

MOD Midterm (9 decks)

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