Brainscape's Knowledge GenomeTM

Browse over 1 million classes created by top students, professors, publishers, and experts.


See full index

Clin Med/Spec > Peds Exam 1 Lecture 2: Neonatal Medicine & Genetic Syndromes > Flashcards

Peds Exam 1 Lecture 2: Neonatal Medicine & Genetic Syndromes Flashcards

1
Q

What are the characteristic signs of NAS (neonatal abstinence syndrome)?

A

hyper-irritability, high-pitched excessive crying, tremors, diarrhea/vomiting, hypertonia, feeding difficulties, autonomic dysfunction (sweating, fever, mottling, yawning), failure to thrive

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

The physiologic pathway of NAS

A

Lack of opioids in chronically stimulated receptors leads to: super activation of adenyl cyclase –> incr cyclic adenosine monophosphate –> incr protein kinase –> incr transcription factors –> incr NT release

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

Complications of Maternal DM

A

macrosomia, prematurity, hypoglycemic-hyperinsulinemia, respiratory distress, congenital anomalies

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

Physiology of Neonatal Hypoglycemia

A

Maternal DM –> intermittent maternal hyperglycemia –> fetal hyperglycemia –> fetal pancreatic upregulation –> fetal hyperinsulinemia –> neonatal hyperinsulinemia –> loss of maternal glucose supply –> neonatal hypoglycemia at birth

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

What is the leading cause of preventable birth defects and developmental disabilities?

A

prenatal exposure to alcohol

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

What are the teratogenic irreversible CNS effects of alcohol?

A

Reduced brain vol and functioning, impulse control, memory & learning, motor coordination, and ability to work toward goals.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

What are the effects of alcohol exposure during the first trimester?

A

Facial anomalies, major structural anomalies, brain abnormalities

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

What are the effects of alcohol exposure during the second trimester?

A

Spontaneous abortion

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

What are the effects of alcohol exposure during the third trimester?

A

Affects weight, length, and brain growth

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

Clinical features of FAS

A

Facial dysmorphism (small palpebral fissures, smooth philtrum, thin upper lip, low nasal bridge, epipcanthial folds, minor ear anomalies, micrognathia), structural birth defects (cardiac, skeletal, renal, ocular, auditory), and CNS involvement (microcephally, neurologic, functional).

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

Diagnosis of FAS requires:

A
  1. The three cardinal facial anomalies (small palpebral fissures, smooth philtrum, thin upper lip)
  2. Documentation of growth deficits
  3. Documentation of CNS abnormality
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

Signs of respiratory distress

A

Tachypnea, nasal flaring, grunting, retractions

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

Causes of: stertor, stridor, wheezing, and grunting

A

Stertor: nasopharyngeal obstruction
Stridor: laryngeal obstruction
Wheezing: lower airway obstruction
Grunting: compensatory sx for poor pulmonary compliance

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

What does stertor sound like?

A

Sonorous snoring sound, mid-pitched, monophonic, may transmit throughout airways, heard loudest with stethoscope near mouth & nose.

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

What does stridor sound like?

A

Musical, monophonic, audible breath sound. Typically high-pitched.

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

What is the cause of transient tachypnea of the newborn? And what is the normal physiologic process that typically prevents this?

A

Caused by impaired fetal lung fluid clearance.

Normally, the chloride & fluid secreting channels in the lung epithelium switch from secretion to absorption - starting to clear fluid & preparing the baby for breathing air instead of amniotic fluid. This is enhanced by labor (uterine contractions, adrenaline).

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

What are the two most common risk factors associated with transient tachypnea of the newborn?

A

Prematurity, C-section

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

Clinical manifestations of transient tachypnea of the newborn (incl imaging)

A

Tachypnea, increased work of breathing, diffuse parenchymal infiltrates from fluid in the interstitium (on CXR)

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

CXR in respiratory distress syndrome/hyaline membrane disease

A

Reticulogranular or “ground glass pattern” w/ air bronchograms, low lung vol

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

Pathophysiology of respiratory distress syndrome/hyaline membrane disease

A

Surfactant deficiency or dysfunction –> pulmonary edema - epithelial injury in airways, decr Na absorbing channels, and relative oliguria

21
Q

What does aspirating meconium cause?

A

Meconium inactivates surfactant & obstructs the distal air passages –> hyperinflation and atelectasis.

MAS may also cause hypoxemic respiratory failure.

22
Q

What is the treatment for MAS?

A

O2 supplementation, CPAP or mechanical ventilation (ECMO) if severe), exogenous surfactant

23
Q

Pathophysiology of persistent pulmonary HTN of newborn

A

Failure to achieve/sustain normal decrease in pulmonary vascular resistance causes R to L shunting across the ductus arteriosus and/or foramen ovale, leading to hypoxemia.

24
Q

What will determine the direction of the shunting in persistent pulmonary HTN of newborn?

A

Echo

25
Q

What is the treatment for persistent pulmonary HTN of newborn?

A

Mechanic ventilation, cardiotonic therapy, inhaled nitric oxide, & ECMO.

26
Q

What defines apnea of prematurity?

A

Cessation of breathing >15 seconds or cessation of breathing w/ bradycardia and desaturation.

27
Q

How do you diagnose congenital diaphragmatic hernia?

A

US

28
Q

What will you see on CXR with congenital diaphragmatic hernia?

A

Intestines are where the heart and lungs should be.

29
Q

Is acrocyanosis related to circulation or hypoxia?

A

Circulation

30
Q

Why can you not detect central cyanosis until O2 sat <85%?

A

Fetal Hb dissociates O2 differently & delivers O2 at a lower saturation. O2 saturation will have to get very low in order to see the cyanosis.

31
Q

What are the “terrible T’s”?

A

Tetrology of Fallot, Transposition of the Great Vessels, Total Anomalous Pulmonary Venous Return (TAPVR), Tricuspid Atresia, Truncus Arteriosis

32
Q

What is “TORCH”? And what does it stand for?

A

TORCH is a group of congenitally acquired infections that may cause significant morbidity and mortality in neonates. TORCH stands for: Toxoplasmosis, Other (syphilis, Hep B, varicella zoster, HIV, parvovirus B19), Rubella, Crytomegalovirus, and HSV

33
Q

Manifestation of Necrotizing Enterocolitis

A

Abd distention, feeding intolerance, hematochezia, discoloration of skin, +/- nonspecific sx (temp instability, apnea, lethargy, poor perfusion, HoTN)

34
Q

What is pathognomonic for Necrotizing Enterocolitis on XR?

A

Pneumatosis intestinalis

portal venous gas, “free air”/football sign/pneumoperitoneum

35
Q

Most common route leading to infection/sepsis of newborn

A

Aspiration of vaginal canal contents (specifically for GBS)

36
Q

Most common bacterial infections associated w/ neonatal sepsis

A

GBS, E.coli, Listeria monocytogenes

37
Q

Manifestations of sepsis

A

Respiratory distress, apnea, fever/temperature instability, poor feeding, cyanosis, neuro abnormalities

38
Q

Work-up for Sepsis

A

Blood culture, urine culture, LP, & CBC

39
Q

Treatment of Sepsis

A

Empiric therapy for early-onset sepsis –> combo of gram + (listeria, GBS) & gram - (E.coli) abx

40
Q

Clinical features of Down Syndrome

A
  • Atypical (up-slanted) palpebral fissures
  • Small nose w/ low nasal bridge
  • Inner epicanthal folds
  • Brushfield spots (speckling on iris)
  • High arched palate
  • Relative macroglossia, fissures
  • Flat facial profile
  • Brachycephaly w/ flat occiput
  • Short neck, excess skin at nape
  • Hypotonia at birth
  • Single palmar crease
  • Widely separate 1st and 2nd toes (sandal gap deformity)
41
Q

Other Manifestations/Complications in Down Syndrome

A

Global developmental delay, congenital heart dz, hypo/hyperthyroidism, ophthalmologic d/o, hearing loss, orthopedic abnormalities, transient myeloproliferative d/o

42
Q

Complications related to infiltration by blasts, found with Transient Myeloproliferative Disorder

A

Hepatic dysfunction/fibrosis, renal failure, respiratory insufficiency, +/- anemia &/or thrombocytopenia

43
Q

What do younger children with Trisomy 21 have a 10-18 fold increased risk of?

A

AML

44
Q

How often do you want to screen infants with Trisomy 21 for thyroid d/o?

A

Birth, 6 mo, then yearly

45
Q

Clinical manifestations of Turner Syndrome in neonates

A

Lymphedema (resulting in swollen hands & feet), webbed neck, low set ears, low hairline, broad chest w/ wide spaced nipples, higher incidence of hip dysplasia

46
Q

Who has Turner Syndrome?

A

Girls w/ single X chromosome (45X) -> absence of all or part of secondary sex chromosome

47
Q

Who has Klinefelter Syndrome?

A

Males w/ sex chromosomal pattern XXY

48
Q

What are the clinical manifestations of Klinefelter Syndrome at puberty?

A

Microorchidism w/ otherwise normal male genitalia, azoopsermia, sterility, gynecomastia, diminished facial hair

Clin Med/Spec (11 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2024 Bold Learning Solutions. Terms and Conditions