Brainscape's Knowledge GenomeTM


Top Flashcards (Certified)
All Flashcards

MOD Exam 2 > Ch. 10: Diseases of Childhood and Infancy > Flashcards

Ch. 10: Diseases of Childhood and Infancy Flashcards

1
Q

What is the age range for a neonate

A

First 4 weeks of life

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

What is the age range for an infant?

A

First year of life

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

What is the age range for a toddler?

A

1-4 years old

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

What is the age range for a child

A

5 - 14 years old

AKA my baby is 72 months!

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

What are the leading causes of death in infancy?

A
  • Congenital Abnormalities
  • Short Gestation and Low Birth weight
  • SIDS
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

What are the major causes of death in children 1-4 years old?

A
  • Accidents
  • Congenital malformations
  • Assault
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

What are the leading cause of death in children 5 - 14 years old

A
  • Accidents
  • Malignant neoplasms
  • Tied at 3
    (5-9 y/o): congenital malformations
    (10 - 14 y/o) self-harm/suicide
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

Define congenital anomaly

A

anatomic defects that are present at birth, but some, such as cardiac defects and renal anomalies, may not become clinically apparent until later

DOES NOT HAVE TO BE GENETIC

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

What is a malformation

A

primary errors of morphogenesis, in which there is an intrinsically abnormal development process. They can be chromosomal, single gene, or multifactorial

ie. septal heart defects, anencephaly

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

What is a disruption with respect to congenital abnormalities

A

result from secondary destruction of an organ or body region that was previously normal in development - extrinsic disturbance in morphogenesis.

ie amniotic bands (fig 10-2)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

What is a deformation

A

Like disruption, there is an extrinsic cause. Generally from local or general compression of the fetus resulting in abnormal biomechanical forces.

most common is uterine constraint

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

What is a sequence with respect to congenital abnormalities?

A

a cascade of anomalies triggered by one initiating aberration.

ie Oligohydramnios (Potter’s sequence)

10-3/4

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

What is agenesis

A

complete absence of an organ and its associated primordium

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

What is aplasia

A

absence of an organ due to the failure of growth of an existing primordium

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

What is atresia?

A

describes the the absence of an opening, usually a hollow or visceral organ

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

What is dysplasia

A

in the context of malformations is the abnormal organization of cells.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

What are the three major causes of congenital abnormalities

A

Genetic

- Chromosomal 10-15%
- Mendelian Inheritance (2-10%)

Environmental

 - Maternal/placental infection (2-3%)
 - Maternal disease (6-8%)

Multifactorial - 20-25%
Unknown - 40-60%

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

Which of the following organ systems has the latest critical period for development?

A. CNS
B. Arms
C. External Genitalia
D. Eyes

A

C. External Genitalia

High yield is fig 10-5 in development for systems, probably going to ask about viability

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

When is the fetus most susceptible to teratogens

A

between 3rd and 9th week

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

Describe the relationship between teratogens and the defects they produce with respect to genetic abnormlaities

A

features of dysmorphogenesis caused by environmental insults can often be recapitulated by genetic defects in the pathways targeted by these teratogens

ie

cyclopamine - holoproencephaly in sheep via hedgehog

-Valproic acid - HOX disruption: limb and CNS issues

Vit A - necessary for development, too much knock out TGF-B: cleft palate

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

What is prematurity which respect to neonates?

A

gestational age less than 37 weeks, second most common cause of neonatal mortality

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
22
Q

What are chorioamnionitis and funisitis?

A
  • inflammation of placental membranes

- inflammation of fetal umbilical cord

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
23
Q

Describe the fetal abnormalities associated with fetal growth restriction (born small at term).

A

intrinsically reduce the growth potential of the fetus despite an adequate supply of nutrients from the mother. Often is systemic (everything affected)

ie chromosomal disorders, TORCH infections

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
24
Q

Describe the placental abnormalities associated with fetal growth restriction (born small at term).

A

During third trimester, vigorous growth by the fetus puts heavy demand on placenta.

ie uteroplacental insufficiency (single uterine artery, placental hemangioma). Tend to be asymmetric (disproprotionate) with relative sparing of the brain.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
25
Describe the maternal abnormalities associated with fetal growth restriction (born small at term).
Most common maternal SGA factors are ones that reduce placental blood flow ie preeclampsia, chronic hypertension, thrombophilias (antiphospholipid antibody syndrome)
26
Which of the following would lead to neonatal respiratory distress syndrome? A. Hyaline cartilage desposition around alveoli B. Excessive sedation of mother C. Fetal head injury D. Aspiration of blood or amniotic fluid E. All of the above
E. All of the above but hyaline cartilage deposition is most common
27
What causes a fetus to be susceptible to RDS?
immaturity of the lungs and deficiency of surfactant. occurs 60% <28 weeks 30% 28-34 weeks
28
Deficiency in which two surfactant type would lead to increased suception of atelectasis? A. SP-A & SP-D B. SP-B & SP-C C. SP-A & SP-B D. SP-C & SP-D
B. SP-B & SP-C SP-A & SP-D - important for infection control Mutations in SFTPB and SFTPC are major causes
29
What would you be expected to find on examination of a neonate's lungs with RDS
- reddish-purple appearance close to liver with no air | - microscopically necrotic debris is present and incorporated into eosinophilic hyaline membranes
30
What are the clinical features of Respiratory distress syndrome
TOO MUCH VENT - retrolental fibroplasia - bronchopulmonary dysplasia - Patent ductus arteriosus - intraventricular hemorrhage - necrotizing enterocolitis
31
Describe necrotizing enterocolitis
Most common in premature infants. Multifactorial pathogenesis including prematurity, enteral feeding, and neonatal insult (bacteria). -High PAF levels.
32
What are the clinical presentations of Necrotizing Enterocolitis
Involves the terminal ileum, cecum, and ascending colon. Involved segment is congested and thin. high perinatal mortality
33
what are the two routes of perinatal infections
Transcervically (ascending) - Most bacterial and some viruses Transplacentally (hematologic) -most parasites and viruses and few bacteria
34
Describe fetal hydrops and what are the two types
accumulation of edema fluid in the fetus during intrauterine growth. Immune vs non-immune
35
Describe immune hydrops
hemolytic disease caused by a blood group antigen incompatibility between mother and fetus. Rh + first baby all good Rh+ second baby shit goes down
36
why are fetal hydrops caused by ABo antigens different than Rh antigens
ABO are IgM which dont cross the placenta. neonatal RBC express ABO poorly many cells other than RBC express ABO and thus absorb the antibody
37
What are the two main complications that result from immune hydrops
Anemia - depending on severity can lead to cardiac hypoxia. Jaundice - hemolysis -> unconjugated bilirubin -> kernicterus
38
What are the three major causes of non immune hydrops
cardiovascular defects Chromosomal defects fetal anemia
39
What are the clinical features of hydrops
minimally affected infants display pallor with or without hepatosplenomegaly. Grave case has jaundice, edema, and signs of neurologic injury
40
How are most inborn errors of metabolism inherited
Autosomal Recessive X-linked Recessive
41
Describe Phenylketonuria (PKU)
common in persons of scandinavian descent and uncommon in jewish or AA populations. autosomal recessive deficiency in phenylalanine hydroxylase resulting in accumulation of phenylalanine
42
What is the clinical presentation of PKU
normal birth weight, within 6 months develop severe cognitive dysfunction. 1/3 cant walk, 2/3 cant talk and seizures, low pigment, and eczema occur. Strong musty, mousy odor to urine
43
What happens if a baby is born to a woman with PKU
75-90% are mentally retarded and microcephalic 15% have congenital heart disease. maternal PKU. DC phenylalanine from before conception to after delivery
44
What is the normal cause of PKU and what variant cant be treated with a decrease in Phenylalanine in the diet?
Normal - mutation in PAH (98%) Variant - BH4
45
Describe glactosemia
autosomal recessive disorder of galactose metabolism resulting in accumulation of galactose-1-phosphate in tissues.
46
What are the two forms of galactosemia and what causes them
Common - deficiency in galactose-1-phosphate uridyl transferase Rare- deficiency in galactokinase
47
What is the clinical presentation of common, sever, galactosemia?
Hepatomegaly due to fatty change leading to cirrhosis opacification of lens due to galactitol Failure to thrive from birth, vomiting and diarrhea, jaundice. Not as sever as PKU
48
What is the incidence of Cystic Fibrosis and what ethnicity is most commonly affected?
1:2500 Caucasian populations
49
What is the function of the CFTR gene?
regulates multiple additional ion channels and cellular processes. Including transmission of Cl into and out of cells.
50
What is the locus of the CFTR mutation that causes CF?
7q31.2 I know this is nitpicky but he pulled this shit with anglemans.
51
What transporter is normally inhibited by the functional CFTR transporter which results in an over absorption of sodium?
ENaC. See figure 10-18
52
A patient with CF has markedly thickened mucus. would Cl absorption from the lumen be impaired in their respiratory tract or in their sweat glands.
Sweat glands. - no absorption of Cl in sweat - No secretion of Cl in respiratory tract. Same function in intesitnal.
53
What endo and exocrine organ is most affected in patients with CF?
Pancreas inability to secrete bicarbonate which maintains acidity of gastric contents and backs up pancreas
54
What are the 6 classes of CFTR gene mutation?
``` Class I: Defective synthesis Class II: Abnormal folding Class III: Defective regulation Class IV: Decreased conductance Class V: Reduced abundance Class VI: Altered function in regulation of ion channels. ```
55
What is the classification of patients who present with symptoms unrelated to CF but harbor mutations for the CFTR gene.
non-classical or atypical cystic fibrosis
56
You are trying to diagnose a young child with cystic fibrosis. The family cant afford the genetic test but can manage a biopsy. Which affected system would biopsy yield the least conclusive results? A. Liver B. Pancreas C. Sweat Glands D. Lungs
C. Sweat Glands morphologically unchanged by CF and you cant lick a baby.... thats one way to lose your license.
57
Which non respiratory system is affected in 80-90% of patients with CF?
Pancreatic. Azoospermia is affected in 95% of males who survive to adulthood.
58
What is the definition of SIDS
the sudden death of an infant under 1 year of age which remains unexplained after a thorough case investigation, including performance of a complete autopsy, examination the death scene and review of the clinical history.
59
What is the difference between SIDS and SUID?
SUID arrives at an explanation after autopsy while SIDS does not. Sudden unexplained Infant Death
60
What are the four categories of risk factors for SIDS
Parental Infant Environment Post mortem abnormalities in cases of suspected SUID
61
What are the common findings associated with SIDS
Multiple petechiae Lung congestion with edema Astrogliosis of brain stem and cerebellum
62
how many deaths per year occur in the US related to SIDS and how old are most of the infants?
2000 in first 6 mo of life (2-4 mos)
63
Define heterotopia
applied to microscopically normal cells in abnormal locations AKA choristoma
64
Define hamartoma
excessive, focal growth of cells and tissues native to an organ in which it occurs.
65
What is a hemangioma?
most common tumor of infancy. There are capillary and cavernous hemangiomas.
66
Which of the following malignancies is unique to a child aged 0-4 years? A. Leukemia B. Retinoblastoma C. Neuroblastoma D. Wilms Tumor
D. Wilms Tumor Table 10-7 make a reservation
67
Where are the most common places for children to experience tumors?
``` hematopoietic nervous tissue Adrenal Medulla Retina Soft tissue Bone Kidney ```
68
What is the significance of the blastoma suffix?
cells have more primitive, undifferentiated appearance and are characterized by sheets of cells with small round nuclei. this is why they are called small round blue cell tumors
69
What is one diagnostic test that can be done to test for neuroblastomas?
serum vanillylmandelic acid | Serum homovanillic acid
70
What gene is mutated that caused neuroblastoma
anaplastic lymphoma kinase ALK gene
71
What is the prevalence of neuroblastomas
1:7000
72
What percentage of neuroblastomas arise in the adrenal medulla
40%
73
What stage describes a cancer that is a localized tumor with incomplete gross resection; respresentative ipsilateral nonadherent lymphnodes negative for tumor microscopically?
2A be familiar with the staging of morphology on pg 477
74
What are the most important prognostic features of neuroblastomas
Age and Stage 1, 2A/B have good prognosis irrespective of age Age 18 mo is critical point in prognosis change, younger excellent prognosis
75
Which form of ploidy renders the best prognosis for neuroblastoma?
Hyperdiploid (whole chromosomal gains) unfavorable is Near-Diploid
76
If the MYCN gene is amplified in neuroblastoma, is the prognosis favorable or unfavorabe?
unfavorable
77
Compare synchronous and metachronous
synchronous is when the cancer occurs at one time opposed to metachronous which is space out over 6 months... not sure about this one folks.
78
What is the prevalence for wilms tumor?
1:10,000 children. most common renal tumor of childhood.
79
Describe the first group of Wilms tumor patients
WAGR syndrome Wilms Tumor Aniridia genital anomalies mental retardation deletion 11p13
80
Describe the second group of Wilms tumor patients
Denys-Drash syndrome: gonadal dysgenesis and early onset nephropathy. dominant-negative missense mutation on Zn finger of WT1 protein
81
Describe the third group of Wilms tumor patients
Beckwith-Wiedemann syndrome: organomegaly, macroglossia, hemihypertrophy, omphalocele, 11p15.5
82
Describe the classic morphology of wilms tumor
triphasic combination of blestemal, stromal, and epithelial cell types is observed in the vast majority of lesions.
83
Describe the clinical features and course of Wilms tumor
present with large abdominal mass Hematuria intestinal obstruction most can be cured of their malignancy Anaplastic histology is main prognosticator

MOD Exam 2 (3 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2025 Bold Learning Solutions. Terms and Conditions