URx 2 Flashcards

1
Q

Newborn babies with pyloric stenosis classically present between _____ duration after birth with ____ s/s.

A

between 2 and 8 weeks of age;

p/w increasingly frequent episodes of regurgitation -> nonbilious projectile vomiting, and a palpable olive-shaped mass in the epigastric region.

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2
Q

Coughing, choking, regurgitation or vomiting, and gastric distention after every feed in a newborn baby may indicate ____.

A

Tracheoesophageal fistula with esophageal atresia.

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3
Q

What disorders may be considered in a newborn who has difficulty feeding and regurgitates meals after every feed?

A
  1. TE fistula with esophageal atresia: coughing and choking present.
  2. Malrotation with volvulus: bilious vomiting, resistance to feeding, irritable, and sick-looking.
  3. GERD: non-bilious regurgitation or vomiting after meals, baby may keep their head on one-side and chin elevated.
  4. Pyloric stenosis: presents between 2-8 weeks with non-bilious projectile vomiting, and a palpable olive-shaped mass in the epigastric region.
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4
Q

_____ anemia is an autosomal recessive disorder in which cells cannot properly repair DNA cross-links causing initial ___ and ___, which ultimately progresses to ____ and _____.

A

Fanconi anemia;

causing initial leukopenia and thrombocytopenia - -> pancytopenia and bone marrow failure.

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5
Q

Bone marrow biopsy in Fanconi anemia shows _____.

A

fatty infiltration.

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6
Q

Approx. 75% of patients with Fanconi anemia have associated congenital abnormalities such as ____ (list most).

A
  1. Upper limb: absent, bifid, super-numerary, short/hypoplastic thumb, absent or hypoplastic radii, dysplastic ulna.
  2. Lower limb: polydactyly, short toes, club foot, flat feet, hip dislocation, abnormal femur, thigh osteoma.
  3. Other: head/face anomalies, microcephaly, hydrocephaly.
  4. Hypogonadism: hypo-development, undescended/absent testis, phimosis, hypospadias.
  5. Other: abnormal epi-canthal folds, proptosis, ptosis, cataracts, blindness, epiphora, absent eardrums, small/large pinnae, and atresia of the ear canal.
  6. GI (less common): imperforate anus, TE fistula, intestinal atresia, Meckel diverticulum, megacolon, hepatocellular adenoma, and umbilical hernia.
  7. Cardiac effects include VSDs.
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7
Q

Ammonia is a potent ____ that can lead to life-threatening complications such as ___ and ___.

A

neurotoxin

-> cerebral edema and brain herniation.

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8
Q

Ammonia is normally produced in _____ organs, from where it is transported to the ____ to be converted to urea (via the urea cycle) for excretion by the kidneys.

A

produced in the
-colon (bacterial metabolism of protein and urea),
-small intestine (bacterial degradation of glutamate), and
-skeletal muscle (amino acid transamination and the purine-nucleotide cycle).

transported to the liver for conversion to urea (water soluble) ->

excreted by the kidneys.

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9
Q

List the pathophysiologic mechanisms underlying hyperammonemia.

A

Congenital (enzyme deficiencies):
-Urea cycle defects,
-Organic acidemias,
-Congenital lactic acidosis,
-Fatty acid oxidation defect, and
-Dibasic amino acid deficiencies.

Acquired Disorders:
-Hepatic: liver disease or cirrhosis c/by toxins, infections etc.
-Non-Hepatic: portal blood directed to the systemic circulation, bypassing the liver, or increased production of ammonia d/t infection with certain microorganisms.

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10
Q

How is hyperammonemia d/t urea cycle enzyme deficiencies distinguishable from hyperammonemia d/t other non-urea cycle enzyme deficiencies (e.g. organic acidemias, congenital lactic acidosis, fatty acid oxidation defect, and dibasic amino acid deficiencies)?

A

Urea cycle enzyme deficiencies: hyperammonemia with normal lactate and blood glucose levels;

versus

-Hyperammonemia + Ketosis and Lactic acidosis in organic acidemias (e.g. isovaleric acidemia),

-Hyperammonemia + elevated pyruvate and lactate in congenital lactic acidosis, and

-Hyperammonemia + Hypoglycemia in acyl CoA dehydrogenase deficiency.

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11
Q

____is the most common urea cycle enzyme deficiency leading to hyperammonemia in the immediate neonatal period?

A

Ornithine transcarbamylase (OTC) deficiency (see attached image for details).

*the only X-linked recessive urea cycle enzyme deficiency.

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12
Q

The higher serum ammonia levels in pre-term infants must reach the healthy term levels in approx. ____ days after birth.

A

in ~ 7 days of birth;

normal ammonia levels in preterm infants range from 71±26 μmol/L;

levels in a healthy term infant range from 45±9 μmol/L; 80 to 90 μmol/L is considered to be the upper limit of normal.

Normal levels in adults < 30 μmol/L.

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13
Q

Ash-leaf spots and seizures in a patient with a h/o developmental delay and seizure disorders indicate _____.

A

Tuberous sclerosis.

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14
Q

In patients with tuberous sclerosis, skin lesions may be detected in about ____ % of patients of all ages, the most common being ______ followed by other lesions such as ____ (list all).

A

90% of patients;

most common (see attached images): hypopigmented macules (ash-leaf spots) usually found in early childhood f/by

-Ungual fibromas appear near puberty,
-facial angiofibromas are more common in adolescence.
-shagreen patches: areas of thicker skin as a leathery lesion with a pebbly texture.

IMAGE SOURCE: www.dermnetnz.org

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15
Q

Tuberous sclerosis complex (TSC) arises from mutations in the _____ genes encoding for ____ proteins.

A

TSC1 and TSC2 genes, encoding hamartin and tuberin, respectively.

Note: hamartin and tuberin proteins regulate cell division and growth in the body -> hence, the disease presents with the development of hamartomas and tubers throughout the body -> p/w seizures, angio-fibromas (esp. face), renal angiomyolipomas and cysts, cardiac rhabdomyomas, pulmonary cysts and lymphangio-leio-myomatosis.

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16
Q

The TSC 1/2 mutations in patients with Tuberous Sclerosis most commonly develop sporadically; however, once develop, are transmitted in an autosomal ____ pattern.

A

autosomal dominant

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17
Q

In addition to the classic skin lesions, ____ may be the most common presentation in early childhood or infancy in patients with tuberous sclerosis complex.

A

seizures.

Source: https://www.ncbi.nlm.nih.gov/books/NBK538492/

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18
Q

List the diagnostic criteria of tuberous sclerosis.

A

Definitive diagnosis requires
-2 major features, or
-1 major feature + at least 2 minor features.
Possible diagnosis: in patients with 1 major feature OR at least 2 minor features.

Major Features:
- Hypomelanotic macules (>2, & at least 5 mm in diameter).
- Angiofibromas (> 2)/fibrous cephalic plaque.
- Ungual fibromas (> 1)
- Shagreen (leathery) patch
- Multiple retinal hamartomas
- Cortical dysplasias
- Subependymal nodules
- Subependymal giant cell astrocytoma (SEGA)
- Cardiac rhabdomyoma
- Lymphangioleiomyomatosis
- Angiomyolipomas (> 1)

Minor Features
- Confetti skin lesions
- Dental enamel pits (> 3)
- Intraoral fibromas (> 1)
- Retinal achromic patch
- Multiple renal cysts
- Nonrenal hamartomas

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19
Q

Approximately ___ % of patients with tuberous sclerosis will develop renal angiomyolipomas;
Other renal lesions include ____.

A

~ 55% to 75%.

other common renal lesions include
-PKD, renal cysts, and
-renal cell carcinomas (RCC); in 1-2% of cases with renal angiolipoma.

*lifetime risk of RCC ~ general population but usually present at a younger age.

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20
Q

True/False?
Renal angiomyolipomas in patients with tuberous sclerosis are mostly asymptomatic but a/w a risk of rupture and bleeding; hence, surgery is indicated for larger lesions that carry a higher risk of bleeding.

A

true

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21
Q

CNS manifestations are common in patients with tuberous sclerosis complex (TSC) and include the development of ____ lesions.

A

-subependymal nodules,
-cortical or subcortical tubers, and
-Subependymal giant cell astrocytoma (SEGA) presents in ~ 10-15% of patients in late childhood.

complications:
-obstructive hydrocephalus
-seizures, often refractory to medical treatment.

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22
Q

Lymphangiomyomatosis in patients with tuberous sclerosis is characteristically marked by smooth muscle proliferation and cystic changes in ____ organ.

A

extensive proliferation of smooth muscle cells and cystic changes within the lung parenchyma.

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23
Q

The differential diagnoses to consider in a tuberous sclerosis complex (TSC) patient include _____ syndrome, which is also a/w seizure disorders and developmental delay.

A

Sturge-Weber syndrome; a/w seizure disorders and developmental delay as in TSC;

distinguishing features include
-NO ash-leaf spots
-Port-wine stains on the face esp. upper eyelid and forehead.

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24
Q

____ is the third most common neurocutaneous syndrome, after neurofibromatosis and tuberous sclerosis.

A

Sturge-Weber syndrome aka encephalotrigeminal angiomatosis, a neurocutaneous disorder characterized by angiomas involving the face (presents as a port-wine stain or nevus flammeus), choroid, and leptomeninges.

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25
Q

Optic nerve glioma is most commonly seen in children under 6 years of age with _____, the most common neurocutaneous syndrome.

A

Neurofibromatosis type 1 (NF1)

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26
Q

Hookworm larvae (Ancyclostoma, Necator) penetrate the skin from soil contaminated with dog/cat feces initially causing self-limiting ____ skin followed rarely by deep tissue penetration leading to _____ disorder (s).

A

Cutaneous larva migrans (CLM) aka creeping eruption;

larvae penetrate deeper tissues causing pneumonitis (Löffler syndrome) or eosinophilic enteritis.

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27
Q

How do the cutaneous burrows in scabies differ from the ones in cutaneous larva migrans (CLM)?

A

The characteristic cutaneous burrows in scabies are
-intensely pruritic, short, non-advancing, wavy, scaly, gray lines on the skin plus papules & vesicles,
-found anywhere but esp. on fingers, wrists, arms, legs, and belt area,
-might be silver with a black dot at one end visible under a magnifying glass.
Secondary lesions: c/by scratching and rubbing the rash and include crusty sores, hives, tiny bites, knots under the skin, pimples, or scaly patches that look like eczema.

Burrows in CLM are longer with e/o advancement (as larvae migrate at the speed of 2mm/day), mostly on foot at the point of entry of the larva/larvae.

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28
Q

A newborn baby girl born at home with ambiguous genitalia is brought for a check-up for small palpable masses in the inguinal area on both sides. Her vital signs are normal, has 46XY karyotype, testosterone is elevated, dihydro-testosterone (DHT) is low, and her electrolytes, adrenal hormones and gonadotropins (LH, FSH) are all normal. What is the most likely enzyme deficiency affecting her state?

A

Autosomal recessive deficiency of 5α-Reductase (5-ARD)

-> DHT not produced/low -> lack of sexual development of male (46XY) fetuses -> ambiguous genitalia (may be assigned female sex at birth).
-Vitals normal as the adrenal cortical hormones are intact.
LAB: normal/elevated testosterone, low DHT, normal electrolytes, normal 17-hydroxyprogesterone, DHEA, 11-deoxycortisol, deoxycorticosterone, and normal LH and FSH.

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29
Q

After the resolution of an acute UTI in a child less than 2 years of age who also presents with an abnormal renal USG, ______ test is indicated to assess the presence of vesicoureteral reflux.

A

voiding cystourethrogram.

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30
Q

Vesicoureteral reflux is a common congenital genitourinary malformation, found in about _____% of young children with a febrile UTI.

A

30% to 45%

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31
Q

_____ is the most common pediatric intraocular malignancy of neuro-endocrine origin arising from the immature retinal cells, with a peak incidence in young childhood (age <5 years).

A

Retinoblastoma

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32
Q

The peak incidence of retinoblastoma is in ___ age groups.

A

children < 5 years of age

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33
Q

Flexner-Wintersteiner rosettes and Homer Wright pseudorosettes on HPE are classic findings in ____ intra-ocular malignancy.

A

retinoblastoma

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34
Q

True/False?
As opposed to the normal fundus reflex, previously known as the “red reflex”, a child with retinoblastoma will p/w the characteristic white pupil aka leukocoria when light is shown in the eyes.

A

true (see attached image).

NOTE: the fundus reflex color in a healthy individual is based on their skin color as described below:
-Red/Orange reflex in people with lighter-pigmented skin.
-Orange/yellow in Asians/people with moderately pigmented skin.
-Darker colors/green/blue: in people with darker skin.

Image Source: https://www.researchgate.net/figure/Abnormal-red-reflex-information

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35
Q

List the causes of leukocoria.

A

-Retinoblastoma
-congenital corneal opacities,
-congenital cataracts,
-persistent fetal vasculature,
-retinopathy of prematurity,
-Coats disease, and
-congenital toxoplasmosis.

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36
Q

Children diagnosed with retinoblastoma are at increased risk of developing _____ malignancy later in life d/t _____.

A

Osteosarcoma d/t the underlying inactivating point mutations of the RB tumor-suppressor gene (on chromosome 13) -> uncontrolled division and growth of cells d/t loss of inhibitory control over the E2F transcription factors.

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37
Q

What factors may guide or indicate escalated care such as hospitalization in patients with bronchiolitis?

A

-toxic appearance;
-lethargy; poor feeding
-O2 saturation lower than 92%;
-tachypnea > 70/min,
-s/of respiratory distress, such as nasal flaring, intercostal retraction, or cyanosis
-apnea/respiratory failure
-dehydration

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38
Q

The diagnostic criteria for Kawasaki Disease (KD) include ____ clinical features.

A

-Fever for a minimum of 5 days,
+
at least 4 of the following 5 signs:
1. bilateral non-purulent conjunctivitis;
2. a polymorphous non-vesicular rash (primarily truncal);
3. Cervical lymphadenopathy with one node that is >1.5 cm
4. Edema and erythema of palms and soles, and/or desquamation of fingers and toes, and
5. Mucosal involvement (eg, injected or fissured lips, injected oropharynx, strawberry tongue).

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39
Q

True/False?
Atypical (or incomplete) Kawasaki Disease (KD) has at least 5 days of fever but fewer than four signs of mucocutaneous inflammation.

A

true;

NOTE: s/o mucocutaneous inflammation in KD include
1. bilateral nonpurulent conjunctivitis;
2. a polymorphous nonvesicular rash (primarily truncal);
3. Edema and erythema of palms and soles, and/or desquamation of fingers and toes, and
4. Mucosal involvement (eg, injected or fissured lips, injected oropharynx, strawberry tongue).

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40
Q

_____ and ____ is the first-line treatment aimed at preventing the complications of vasculitis in patients with Kawasaki Disease (KD).

A

IVIG and Aspirin

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41
Q

When is treatment with prednisone indicated in the m/m of Kawasaki Disease (KD) with first-line agents being IVIG and Aspirin?

A

In patients scoring > 3 points based on the scoring algorithm outlined below:
-Enlarged coronary arteries on echocardiogram = 2 points
-Age of onset of fever at < 6 months = 1 point
-Asian race = 1 point
-CRP higher than 13 mg/dL = 1 point

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42
Q

Long-term cardiovascular complications in Kawasaki Disease (KD) include _____ conditions.

A

-Accelerated atherosclerosis,
-Myocardial ischemia, and
-Arrythmia.

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43
Q

____ is the copper chelator used as the primary treatment in patients with Wilson disease.

A

D-penicillamine.

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44
Q

Koplik spots which are tiny blue-white papules surrounded by a ring of erythema in the buccal mucosa (adjacent to the molar teeth) in a patient with measles (Rubeola) appear about ____ (time) before the exanthem begins and disappear within ____ timeline.

A

appear 48 hours before the exanthem begins and disappear within 3 days.

NOTE: exanthem in measles begins 2-4 days after an initial prodrome of 3Cs (cough, coryza, and conjunctivitis); measles exanthem is a macular & papular eruption that begins behind the ears and spreads to the face and rest of the body.

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45
Q

_____ is an XL recessive syndrome (boys) characterized by recurrent opportunistic infections, thrombocytopenia, and atopic dermatitis.

A

Wiskott-Aldrich syndrome (WAS)

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46
Q

Patients with WAS are at increased risk for malignancies especially ____.

A

EBV-associated B-cell lymphoma.

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47
Q

_____ syndrome, a genetic neurodegenerative disease found exclusively in females (as male fetuses die in-utero) should be highly suspected in a female infant who regresses after a period of normal development.

A

Rett Syndrome

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48
Q

Infants (female) with Rett syndrome start showing signs of regression most commonly in ____ and ____ milestones between 6 and 18 months of age.

A

language and coordination;

between 6 - 18 months of age.

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49
Q

A newborn baby is born with a rash involving several pustules on a non-erythematous base and some hyperpigmented macules with a surrounding rim of scale. On CE, vital signs are normal. What is the most likely diagnosis?

A

Transient neonatal pustular melanosis (TNPM) (see attached image)
Note:
-Lesions are mostly concentrated on the forehead, chin, neck, lower back, and shins; may be widespread.
-Pustules resolve in 24-48 hours after birth but hyperpigmented macules fade in several weeks to months.

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50
Q

How is Transient neonatal pustular melanosis (TNPM) distinguishable from other conditions that also present with rash at birth or immediately thereafter such as erythema toxicum, miliaria, neonatal HSV infection, and staphylococcal folliculitis?

A

The lesions in erythema toxicum, miliaria, neonatal HSV, and staphylococcal folliculitis lesions are
-erythematous, or have an erythematous rim or base, and
-no hyperpigmented macules are noted as in TNPM.

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51
Q

Physiologic jaundice usually starts at ____ hours of life, peaks between ___ to ____ hours, and then begins to decrease to normal levels.

A

starts at 24 hours of life (not present at birth);
peaks between 48 and 96 hours f/by decline.

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52
Q

ABO incompatibility arises when the maternal blood type is _____ and the child is not _____.

A

maternal blood type is O (contains antibodies against A and B group antigens) and the child is not O.

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53
Q

Rh incompatibility arises when the mother is Rh ____ and the child is Rh ____.

A

mother is Rh negative and the child is Rh positive.

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54
Q

Infants with craniofacial dysmorphia must be diligently evaluated for the presence of _____.

A

other major anomalies especially for cardiac defects (mainly VSD), thoracic deformities, and poor prenatal and postnatal growth.

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55
Q

The presence of just one minor craniofacial abnormality that does not cause dysfunction is a/w dysfunction causing major anomalies that may require surgical correction in about 3% of cases; this association increases with more minor anomalies such that with 3 or more minor anomalies, associated major anomalies may exist in as high as about _____ % of cases.

A

90%

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56
Q

Eyes in Down syndrome are characteristically ____ slanting, whereas in fetal alcohol syndrome (FAS) are ____-slanting.

A

Down syndrome: upward-slanting eyes;

FAS: downward-slanting eyes.

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57
Q

The differential diagnoses in a child p/w bloody stools include ____ conditions.

A
  1. Meckel diverticulum: Painless rectal bleeding
  2. Intussusception: episodic abdominal pain (playful between episodes); currant-jelly stools (blood mixed with mucus)/ blood per rectum on CE; vomiting; sausage-shaped mass in RUQ, and empty RLQ (Dance sign).
  3. Malrotation with midgut volvulus: p/within 1 week of birth; bilious emesis & abdominal distension -> non-bilious vomiting and rectal bleeding when intestinal ischemia and necrosis set in.
  4. Food protein induced allergic proctocolitis (FPIAP): diarrhea and rectal bleeding; no abdominal discomfort on palpation or intermittent crying episodes.
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58
Q

_____ maintains the ductus arteriosus patency; hence, ____ pharmaceutical agents are given to close the ductus in newborns with PDA.

A

Prostaglandin (PGE2) maintains the ductus arteriosus patency;

hence, PGE2 inhibitors such as Indomethacin or ibuprofen are given to close the ductus in newborns with PDA.

Memory Aid: P for Prostaglandins, and P for Patency of the ductus!

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59
Q

Small PDAs are asymptomatic, while large ones p/w ____ complications.

A

-CHF
-FTT
-LRTI

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60
Q

The hallmark features of serum sickness–like reaction, that differentiate it from drug reactions such as SJS include _____ s/s.

A

Serum sickness–like reaction (a form of drug reaction) p/w
-fever and rash that resembles urticaria, but lesions are purple centrally.
-No blistering
-No mucosal involvement
-arthralgias and periarticular swelling is common.

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61
Q

Staphylococcal scalded skin syndrome (SSSS) caused by epidermolytic toxin (A&B) strains of S. Aureus occurs mostly in ____ age groups.

A

in children younger than 5 years.

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62
Q

_____ is a hypersensitivity reaction triggered by infection (mycoplasma, HSV) or drugs (sulfonamides, penicillins, antiepileptics) classically p/w a flulike prodrome f/by fever, blistering rash with epidermal detachment (Nikolsky sign) involving less than 10% of BSA, and ulcers affecting at least two mucous membranes (conjunctivae, buccal mucosa, lips, other).

A

SJS

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63
Q

SJS was formerly known as ___.

A

erythema multiforme major

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64
Q

SJS is a hypersensitivity reaction considered to represent one end of a spectrum of disease that includes toxic epidermal necrolysis (TEN); with SJS involving ____ % of BSA, and TEN involving ____ % of BSA.

A

SJS <10% of BSA;

TEN >30% of BSA.

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65
Q

SJS is most commonly triggered by ___ drug.

A

sulfonamides

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66
Q

SJS often begins ____ days after the drug exposure or infection, with prodromal flulike symptoms preceding the typical features of SJS by ____ days.

A

begins 7-21 days after drug exposure or infection;

flulike prodrome precedes SJS by 1-14 days.

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67
Q

The differential diagnosis of SJS includes ______conditions.

A

NO oral erosions or ulcers in the following disorder.

  1. Kawasaki disease (KD): also p/w non-purulent conjunctivitis, and lymphadenopathy.
  2. Urticaria: varying shaped evanescent wheals (lasting <2 - 3 hrs; always < 24 hrs). with NO blistering, NO fever.
  3. SSSS: p/w generalized sunburn-like erythema, radial “sunburst” crusting around the mouth.
  4. Serum sickness–like reaction: resembles urticaria but lesions are purple centrally, with arthralgias and periarticular swelling, and NO blistering.
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68
Q

A complex partial seizure is currently also known as ____.

A

focal impaired awareness seizure.

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69
Q

_____ test result is indicative of an epileptic seizure rather than a psychogenic seizure.

A

elevated serum prolactin level following a seizure

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70
Q

With an abnormal EEG in a patient with seizure, the risk of another seizure during the next year increases from 15% to ___%.

A

41%.

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71
Q

Describe the classification of seizures based on the guidelines set by the International League Against Epilepsy.

A
  1. Generalized onset seizures: affect both sides of the brain; include tonic-clonic, absence, and atonic seizures.
  2. Focal onset seizures: fka partial seizure; begin in one specific area of the brain; include
    -Focal aware seizures fka simple partial seizure.
    -Focal impaired awareness seizure fka complex partial seizure: the patient is confused or unaware.
  3. Unknown onset seizures: Unknown beginning, or not witnessed/seen by anyone (eg, seizure at night or is experienced by a person who lives alone); may later be diagnosed as a focal or generalized seizure.
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72
Q

_____ is the first-line treatment for absence seizures.

A

Ethosuximide

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73
Q

Absence seizures which usually present as staring spells lasting 5–10 seconds p/w ____ findings on an EEG.

A

the classic 3-per-second spike-and-wave discharges.

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74
Q

The best immediate treatment for an infant with hemolytic disease of the fetus and newborn (HDFN) is _____.

A

exchange transfusion (instead of simple transfusion) of the infants’ Rh-positive blood with Rh-negative blood;
*especially in patients with severe anemia (Hct <25%) and severe hyperbilirubinemia, exchange transfusion is preferred over simple transfusion.

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75
Q

The risk of hemolytic disease of the fetus and newborn (HDFN) with life-threatening consequences can be prevented by giving ____ to a Rh-negative primigravida.

A

Rho(D) immune globulin IV (RhoGAM)

Note: this strategy prevents the mother from mounting an immune response against the Rh antigen following intra-natal exposure to the latter, thus averting the r/o HDFN in future pregnancies.

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76
Q

The most severe form of hemolytic disease of the fetus and newborn (HDFN) presents with ______;
mild-moderate HDFN d/t RhD or other blood group incompatibility present with ___ and ____.

A

most severe HDFN: hydrops fetalis.

Mild to moderate HDFN: p/w indirect hyperbilirubinemia within the first 24 hours of life and anemia d/t hemolysis of antibody-coated fetal RBCs.

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77
Q

Symptomatic anemia in newborn babies with hemolytic disease of the fetus and newborn (HDFN) p/w ____ and ____.

A

lethargy or tachycardia

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78
Q

The differential diagnoses for hemolytic disease of the fetus and newborn (HDFN) include ______ conditions/disorders that also p/w neonatal jaundice and hemolytic anemia.

A
  1. Erythrocyte membrane defects e.g hereditary spherocytosis
  2. Erythrocyte enzyme deficiencies e.g. G6PD deficiency, pyruvate kinase deficiency.
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79
Q

_____ test is used to differentiate hemolytic disease of the fetus and newborn (HDFN) from other disorders that may also p/w neonatal jaundice and hemolytic anemia such as hereditary spherocytosis, G6PD or pyruvate kinase deficiency.

A

positive direct or indirect antiglobulin test (Coombs test) in HDFN.

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80
Q

_____ is a serious adverse effect of long-term corticosteroid use, and is marked most commonly by ____ symptoms.

A

Avascular necrosis (AVN) most commonly of the anterolateral femoral head;

Groin pain is the most common symptom followed by thigh and buttock pain.

81
Q

_____ is/are as first-line treatment agents to induce an initial rapid response in patients diagnosed with SLE.

A

corticosteroids to induce a rapid response until the effect of first-line immunosuppressive agents for mild SLE like hydroxychloroquine or chloroquine kick-in.

82
Q

____ test is used to make the diagnosis of AVN.

A

MRI

83
Q

Of the pharmaceutical agents used to treat SLE, _____ may cause alopecia, ____ may cause pancytopenia, ____ may cause hemorrhagic cystitis, and ____ may lead to lead to AVN of the femoral head, and posterior subcapsular cataracts.

A

AVN of the femoral head, and posterior subcapsular cataracts c/by corticosteroids (first-line rapid response agents).

alopecia c/by hydroxychloroquine;

pancytopenia c/by methotrexate;

hemorrhagic cystitis c/by cyclophosphamide.

84
Q

Incubation of fetal RBCs in anti-IgG serum in suspected cases of HDFN resulting in agglutination is an example of positive ____ Coombs test, whereas incubation of known Rh(D)-positive RBCs in maternal serum followed by suspension in an anti-IgG serum resulting in agglutination is an example of positive _____ Coombs test.

*HDFN: hemolytic disease of the fetus and newborn.

A

positive DIRECT Coombs test result (anti-IgG serum is directly binding with the maternal anti-Rh(D) antibodies on the infant’s RBCs);

positive INDIRECT Coombs test (anti-IgG serum is binding with the test Rh(D)-positive RBCs in the maternal serum sample that are coated with the anti-Rh(D) antibodies present in the maternal serum).

85
Q
A
86
Q

How do agents such as sodium bicarbonate, and acetazolamide aid in reducing serum uric acid levels in patients with hyperuricemia?

A

by alkalinizing the urine;
alkalination of the urine makes uric acid more soluble, thus promoting its removal via urine.

87
Q

What are the potential risks of alkalinizing the urine with sodium bicarbonate or acetazolamide to facilitate the removal of excess uric acid via the urinary route?

A

alkaline urine -> uric acid more soluble in water and hence concentrates in the tubules -> the following major concerning effects:
1. increased potential risk of promoting calcium phosphate deposits in the heart, kidneys, and other organs.
2. formation of uric acid crystals in the tubules -> acute renal failure.

88
Q

Tumor lysis syndrome (TLS), occurring due to a massive release of intracellular electrolytes and nucleic acids after initiation of chemotherapy in patients with rapidly proliferating cancers p/w ____ electrolyte abnormalities.

A

-hyperkalemia,
-hyperuricemia
-hyperphosphatemia
-hypocalcemia.

89
Q

The massive release of electrolytes and nucleic acids from dying cells in patients experiencing tumor lysis syndrome (TLS) predisposes to _____ life-threatening consequences.

A

-cardiac arrhythmias d/t hyperkalemia (loss of p-waves and tall T waves on EKG; see attached image).

-renal failure, and

-seizures.

90
Q

___ and _____ are the first-line strategies used to prevent the development of TLS.

A

-Adequate intravenous hydration and
-Allopurinol (inhibits xanthine oxidase, thus blocking the formation of new uric acid).

91
Q

_____ reduces total body K+ by increasing K+ loss via the gastrointestinal tract; hence, can be sometimes used as a second stage of therapy (not a prevention treatment) to reduce serum K+ levels in patients experiencing tumor lysis syndrome.

A

Sodium polystyrene sulfonate

92
Q

A mother presents her 16-month-old boy with a black eye for 2 days, loss of appetite, intermittent fevers, and lack of growth. Past history has been uneventful. On CE, significant findings include body temperature of 38°C (100.4°F), BP is 120/72 mm Hg, weight and height in 10th percentile (normal during his last checkup about 6 months ago), a palpable, firm, painless abdominal mass, no hepatosplenomegaly, swollen left eye with ecchymoses and proptosis, cervical lymphadenopathy, and petechiae and few ecchymoses on skin. Lab reveals pancytopenia, normal KFT and LFT, normal coagulation profile and D-dimer, and elevated Urine vanillylmandelic acid. What is the most likely diagnosis?

A

Neuroblastoma

CLUES:
-age: infant (most common type of childhood cancer in children age < 1 year being a tumor of fetal neuroblasts).
-painless abdominal mass with HTN and Pancytopenia -> petechiae, ecchymoses, FTT (d/t anemia)
-elevated urine VMA

93
Q

_____ is the most common tumor of the sympathetic nervous system (97%) and the most common malignancy of infancy with a median age of diagnosis of 17 months.

Data Source: https://www.ncbi.nlm.nih.gov/books/NBK448111/

A

Neuroblastoma

94
Q

_____ is/are the metabolic by-product (s) of catecholamine synthesis pathways, and is/are often elevated in urine in patients with neuroendocrine tumors such as neuroblastoma.

A

vanillylmandelic acid, and homovanillic acid (HVA)

*~ 90% of patients have elevations in VMA and HVA in the urine.

95
Q

How can a pheochromocytoma be distinguished from a neuroblastoma both of which can p/w a painless abdominal mass, hypertension, abnormal urine studies, and a failure to thrive?

A

No pancytopenia and ecchymoses/eye findings in a patient with pheochromocytoma (unlike in neuroblastoma).

96
Q

___- is the most common site of development of a neuroblastoma; other sites include ____ (list all).

A

Adrenal gland p/w painless abdominal mass.

other sites include:
paraspinal sympathetic ganglia in the thorax, pelvis, and cervical areas with patients (infants/children < 5 years) p/w neck/thoracic masses.

97
Q

True/False?

Over 50% of patients with neuroblastoma p/w signs and symptoms of hematogenous spread at diagnosis such as c/p of pancytopenia d/t involvement of the bone and bone marrow (56% and 71%, respectively), followed by lymph nodes (31%), and lungs (3%); Signs and symptoms can range from an asymptomatic palpable mass to significant critical illness, depending on organs involves in metastatic spread.

A

true.

98
Q

___ is mostly the cause of hypertension in patients with neuroblastoma unlike in patients with Pheochromocytoma where HTN is caused due to catecholamine excess.

A

compression of the renal artery by the adrenal neuroblastoma.

99
Q

____ lesions may p/w horners syndrome in a patient with neuroblastoma.

A

cervical neuroblastoma (of superior cervical ganglion), or thoracic neuroblastoma

100
Q

Chronic diarrhea d/t _____ may be the initial presenting symptom in a child with neuroblastoma.

A

due to the secretion of vasoactive intestinal peptide

101
Q

Short stature is defined as being more than _____ standard deviations below the mean height for children of that age and sex.

A

> two SDs below the mean height for children of that age and sex.

102
Q

In _____ growth delay, there is typically a family h/o delayed puberty in one or both parents.

A

constitutional growth delay

103
Q

True/False?
A family history of delayed puberty makes GH deficiency a less likely cause of short stature in a child.

A

true

104
Q

Slow growth rate and delayed bone age due to hypothyroidism in a child will also p/w other classic s/s of hypothyroidism such as ___ and ___.

A

weight gain and bradycardia.

105
Q

_____ syndrome presents with short stature, delayed puberty, and younger bone age, along with congenital cardiac defects and characteristic facial features.

A

Noonan syndrome

106
Q

In patients with infectious mononucleosis, an exanthematous drug eruption in the form of a generalized erythematous maculopapular or morbilliform rash that develops within 2 weeks of beginning a drug commonly occurs if they receive _____ class antibiotics.

A

penicillin-class antibiotics.

107
Q

____ are the most common type of drug eruptions, usually triggered by ___ agents.

A

Exanthematous drug eruption;

usually triggered by
-antibiotics,
-antiepileptics, and
-NSAIDs

108
Q

List the different types of drug reactions.

A
  1. Exanthematous (most common)
  2. Urticarial (2nd most common),
  3. Fixed drug reaction
  4. Phototoxic drug reaction, and
  5. Stevens-Johnson syndrome.
109
Q

A ____ type of drug eruption is characterized by the development of one or several round, red patches while taking a medication, and reappearance of the rash at the same locations upon re-exposure to the drug.

A

fixed drug eruption

110
Q

___ drugs are most commonly implicated in the development of a fixed drug reaction.

A

-NSAIDs
-acetaminophen, and
-penicillins

111
Q

A _____ type of drug eruption presents as a sunburn-like erythema on sun-exposed areas of the body while the patient is taking the medication.

A

A phototoxic drug eruption

112
Q

A phototoxic drug eruption is most commonly caused by ____ agents.

A

-doxycycline,
-thiazides, and
-quinolones.

113
Q

The rash in _____ type of drug eruption is characteristically composed of 1) Target lesions with three zones of color change: central duskiness with/without a central vesicle/crust, surrounded by a pale ring and an outer red ring, 2) Targetoid lesions with two zones of color change: duskiness surrounded by a red ring, and/or 3) areas of erythema that form blisters along with 4) extensive mucosal erosions in two or more locations while taking the drug.

A

Stevens-Johnson syndrome

114
Q

____ type of drug eruption is composed of lesions in the form of wheals of multiple shapes, and rounded or flat-topped edematous skin elevations that typically occur immediately after beginning a medication, and are evanescent lasting <24 hours (usually 2- 3 hours), with new lesions appearing for days.

A

urticarial drug reaction

115
Q

______ drugs are commonly responsible for an urticarial type of drug reaction.

A

-antibiotics: sulfonamides, b-lactams,
-anticonvulsants,
-azole antifungals, and
-salicylates.

116
Q

The estimated size greater than ____ mm is consistent with a large VSD.

A

> 5 mm.

117
Q

What are the complications of a large VSD in a neonate?

A

-pulmonary over-circulation
-> pulmonary HTN
-> Eisenmenger syndrome and Heart failure.
-arrhythmias -> sudden death, endocarditis, and blood clots.

118
Q

Hypospadias is a common congenital malformation that may be a/w ___, ____, and ____ congenital anomalies.

A

inguinal hernias, chordee, and cryptorchidism.

119
Q

Why is circumcision contraindicated in newborn boys with hypospadias?

A

circumcision is contra-indicated in hypospadias because new urethra can be constructed using the foreskin as a skin flap (urethroplasty).

120
Q

_____ endocrine abnormality may lead to the development of hypospadias in a male fetus.

A

5-reductase deficiency

121
Q

Most undescended testicles will descend without intervention by ____ of age.

A

by 4 months of age

122
Q

Orchiopexy should be performed around ___ age if the undescended testicles have not descended into the scrotal sac by 4 months of age.

A

between 6 months to 2 years to decrease the risk of cancer and infertility.

123
Q

In general, a child p/w a cerebellar mass should prompt consideration of ____ CNS tumors.

A
  1. Medulloblastoma: most common malignant pediatric CNS tumor; posterior fossa arising from the cerebellar vermis (wide-based, ataxic gait) or the 4th ventricle. -> raised intracranial pressure d/t obstruction of the 4th ventricle// small, blue, poorly differentiated cells in Homer-Wright rosettes.
  2. Pilocytic astrocytoma: cerebellar hemispheres//p/w ataxia and vomiting in children//cystic appearance //eosinophilic, corkscrew-like “Rosenthal fibers”.
  3. Ependymoma: less common than medullo-blastoma//p/w vomiting and balance problems//cystic with areas of calcification & hemorrhage// characteristic perivascular rosettes on HPE.
124
Q

_____ is the most common brain tumor in childhood, whereas ____ is the most common malignant tumor in childhood.

A

Pilocytic astrocytoma;

medulloblastoma

*Both arise in the posterior fossa.

125
Q

____ type of brain tumor typically occurring in a young adult is a highly vascular tumor composed of thin-walled vessels with surrounding stroma.

A

Hemangioblastomas

126
Q

______ CNS tumors, the 3rd most common posterior fossa tumors may p/w ataxia d/t cerebellar involvement and vomiting d/t medulla oblongata involvement, along with cranial nerve dysfunction and behavioral changes such as irritability and mood swings.

A

Brainstem gliomas

127
Q

A young boy aged 13 years p/w 2-week h/o pain in the right upper leg (tibia) that is worse at night and alleviated by ibuprofen, and no h/o fever, swelling, night sweats, and trauma. X-ray of the right tibia shows a small intra-cortical radiolucent lesion in the proximal right tibia surrounded by sclerotic bone. What is the most likely diagnosis?

A

Osteoid osteoma (see attached image).

NOTE: benign osteoblastic tumor, more common in young males.

128
Q

A child p/w tachycardia, delirium, mydriasis, flushing of the skin, and dry mouth after consuming some black-color berries about an hour ago from a bush near his backyard. What is the most likely diagnosis?

A

Atropine overdose (anti-cholinergic toxicity)
MN:
Red as a beet (flushed skin),
Dry as a bone (↓saliva, ↓ tears),
Mad as a hatter (delirium, disorientation),
Warm as stone (fever c/by ↓↓ activity of the sweat glands),
Bowel and bladder lose their tone (constipation and urinary retention), and
the heart runs alone! (tachycardia d/t anti-muscarinic effect).

129
Q

_______ p/w cholinergic symptoms (nausea, diarrhea, vomiting) plus characteristic s/s such as blurry vision, yellow-tinted vision, disorientation, palpitations, weakness, and reduced urine output due to renal failure including characteristic EKG changes such as downsloping ST depression with a characteristic “reverse tick” appearance, flattened/inverted/biphasic T waves, and shortened QT interval (see attached image).

A

Digoxin toxicity

130
Q

Digoxin is a cardiac glycoside derived from _____ plant; it has inotropic effects and is utilized in the management of _____ cardiac conditions.

A

derived from the foxglove plant (digitalis species);

are used to manage
-CHF d/t systolic dysfunction (d/t its inotropic effects).
-atrial tachy-dysrhythmias (d/t its AV nodal blocking effect).

131
Q

What is the mechanism of action of digoxin that renders its therapeutic and toxic effects?

A

Digoxin INHIBITS the Na-K ATPase pump -> K+ cannot enter and Na+ cannot leave the cell -> ↑↑ in intracellular Na+ -> inhibition of Na-Ca2+ exchanger (Ca2+ cannot leave the cell) ->↑↑ in intracellular Ca2+ -> ↑↑ inotropy (symptomatic benefit in CHF).

At TOXIC levels:
-cardiac automaticity also increased.
-also ↑↑ vagal tone by decreasing dromotropy at the AV node -> can be used to control atrial tachy-dysrhythmias.

*cardiovascular s/s of digoxin toxicity include palpitations, dyspnea, and syncope (THINK heart is pumping fast d/t increased automaticity, strongly d/t inotropic effect, but there is a blocking effect at AV node in toxic doses).

132
Q

____ electrolyte abnormality is a marker of severe toxicity in acute digoxin poisoning.

A

Hyperkalemia (remember K+ cannot enter the cells d/t Na-K ATPase pump failure.

133
Q

True/False?

Digoxin excretion is primarily renal, and for this reason, patients with poor or worsening renal function, such as patients who are elderly or have CKD, are more likely to develop toxicity.

A

True

134
Q

True/False?

Digoxin levels start to plateau at 6 hours, after tissue redistribution has occurred; hence, earlier levels may be misleadingly high.

A

True

135
Q

____ is the most common symptom of digoxin toxicity.

A

Gastrointestinal upset

136
Q

Cardiovascular symptoms of digoxin toxicity include ____.

A

palpitations, dyspnea, and syncope.

*Elderly patients frequently p/w vague s/s such as dizziness and fatigue.

137
Q

Digoxin toxicity occurs most commonly d/t ___ in adults/elderly, and d/t ____ in children.

A

Adults/elderly:
Acute toxicity d/t intentional or accidental overdose of digoxin medication.
Chronic toxicity d/t acute renal failure in patients already on digoxin.

Children: accidental ingestion of Foxglove, or Lily of the Valley plants (see attached image).

138
Q

Accidental or intentional ingestion of the plants from Datura species (the Devil’s trumpet aka Thornapple aka Jimsonweed) can lead to ____ and ____ toxicity (see attached image of the plant).

A

-anti-cholinergic toxicity,

or

-serotonin toxicity (in patients taking SSRIs).

139
Q

When is DSFab (Digoxin-specific antibody antigen-binding fragments) indicated in the t/t of digoxin toxicity?

A

DSFab is indicated for life-threatening effects of digoxin toxicity, including:
-Ventricular arrhythmias
-High-grade heart blocks
-Hypotension
-Symptomatic bradycardia
-Sr. K+ > 5 meq/L in acute overdose.
-Acute ingestions > 10 mg in an adult or > 4 mg in a child.
-Sr. Digoxin >15 ng/mL measured at any time.
-Sr. Digoxin >10 ng/mL measured 6 hours post-ingestion.

140
Q

Yellow fever vaccine, a live-attenuated vaccine is recommended for persons aged 9 months or older who are traveling to or living in areas at risk for yellow fever transmission that include ____ and ____ geographical areas/countries.

A

South America and Africa.

141
Q

Yellow fever vaccine being a live-attenuated vaccine is contraindicated in ___ conditions.

A

-in those with severe allergy to eggs.
-in individuals with primary immunodeficiencies,
-transplant recipients,
-patients on immunosuppressive therapies, or
-patients whose CD4+ cell count is lower than 200 cells/mL.
-age under 6 months and
-individuals with thymic disorders.

142
Q

Precautions to yellow fever vaccinations should be taken in ____ situations.

A

-pregnancy
-breastfeeding,
-age over 60 years, and
-HIV +ve with CD4+ between 200- 499 cells/mL.

143
Q

Clinical manifestations of acute onset of fever, refusal to feed, lethargy, and a bulging anterior fontanelle in an infant are suggestive of meningitis.

A

meningitis

144
Q

____ and _____ are the empirical antibiotics of choice to treat acute bacterial meningitis in a neonate whereas ___ and ____ are the empirical antibiotics of choice in infants beyond the neonatal period.

NOTE: the neonatal period is defined as the first 28 days (first 4 weeks) of life.

A

Ampicillin + Gentamicin in the neonatal period (for coverage against GBS i.e. streptococcus, E. coli, and Listeria).

Cefotaxime + Vancomycin in infants beyond the neonatal period (for coverage against Strep. pneumoniae, N. meningitidis, and H influenzae).

145
Q

Normal CSF opening pressure is ____ mm H₂O.

A

< 200 mm H₂O

146
Q

The normal lumbar CSF-to-Serum Glucose ratio is ~ 0.6; ratios under _____ are abnormal.

A

ratios under 0.5 are abnormal.

147
Q

The triad of a neonate drooling, choking, and vomiting during the first feeding is strongly suggestive of _____.

A

presence of tracheo-esophageal fistula (TEF).

148
Q

____ is the next best step in the management of a neonate highly suspected of having a TE fistula.

A

nasogastric tube placement to confirm the diagnosis; on follow-up plain CXR, the NG tube will be seen curled up in the upper atresic esophageal segment, with air in the stomach indicating the presence of a distal TEF (most common).
A plain film X-ray will also show a gasless abdomen.

149
Q

Approx. ____ % of children born with a TEF are likely to have other anomalies, the two most common being ____ and _____ syndromes.

A

~ 50% have other anomalies;

most common being VACTERL and CHARGE syndromes.

VACTERL syndrome: Vertebral defects, Anal atresia, Cardiac defects, TEF, Renal anomalies, and Limb abnormalities.
CHARGE syndrome: Coloboma, Heart defects, Atresia choanae, growth Retardation, Genital abnormalities, and Ear abnormalities.

150
Q

The differential diagnosis of plaque psoriasis includes ___ conditions.

A

See attached image
1. Lichen planus (purple, polygonal, papules, and plaques),

  1. Tinea corporis: rings with elevated scaling borders and central clearing.
  2. Seborrheic dermatitis: greasy yellowish scales;

In none of the above disorders, are the scales thick and adherent as in plaque psoriasis.

Image Source: Dermnetnz.org

151
Q

Otitis Externa (OE) is an inflammation of the external auditory canal caused by infection, systemic inflammation, or local dermatologic processes; ___ and ___ are the most common causative agents.

A

Pseudomonas aeruginosa and Staphylococcus aureus.

152
Q

The predominant symptom in fungal otitis externa is ___ rather than severe pain seen with bacterial OE.

A

pruritis

+/- mild pain and/or edema.

153
Q

Septic shock is a/w signs of end-organ damage such as _____ (list all possible s/s).

A

-decreased level of consciousness,
-unstable blood pressure,
-low temperature, or
-renal compromise.

154
Q

Bacterial superinfection progressing to____ is a potential complication of croup.

A

Bacterial superinfection progressing to tracheitis is a potential complication of croup.

155
Q

_____ levels can help distinguish central from peripheral precocious puberty (PP).

A

LH levels;

Elevated LH l-> Central PP;

Low/prepubertal LH -> peripheral PP.

156
Q

_______ is the first step in the evaluation of a child for precocious puberty.

A

Evaluation of bone age with an X-ray;

RESULTS:
-No e/of accelerated growth, and bone age ≈ chronological age -> low likelihood of precocious puberty; the patient can be monitored closely without further workup.

-If bone age > chronological age/X-ray e/o increased growth velocity -> measure basal serum LH, FSH, and Estradiol levels to differentiate between central versus peripheral precocious puberty.

157
Q

The prognosis in patients with Fanconi anemia is poor with severe aplastic anemia as the main cause of mortality before 10 years of age in the absence of a diagnosis; major complications of Fanconi anemia ___.

A

-Aplastic anemia,
-Myelodysplastic syndrome (MDS),
-Acute myeloid leukemia, and
-Specific solid tumors

158
Q

_____ is an inherited disorder of end-organ resistance to PTH (in bones & kidneys), clinically p/w hypocalcemia and hyperphosphatemia despite elevated levels of endogenous PTH, and characteristic associated anomalies such as short stature, a round face, obesity, intellectual disability, brachydactyly of the fourth and fifth digits, and subcutaneous ossifications.

A

Pseudo-hypo-parathyroidism (PHP)

159
Q

Differential Diagnosis of post-infection renal nephritis?

A
  1. IgA vasculitis: in children after a viral respiratory or GIT infection.
    -IgA immune complexes deposit in small vessels.
    -triad of arthralgias, abdominal pain, and palpable purpura (buttocks, legs).
    -plus/minus Renal involvement d/t mesangial deposition of the IgA immune complexes.
    -self-limited and requires nutritional support and analgesia.
  2. IgA Nephropathy:
    -Adults
    -syn-pharyngitic i.e. renal s/s onset may be from 2 days to 1 week prior to pharyngitis.
    -hematuria to nephritic syndrome.
    -no associated abdominal pain, arthralgia, or purpura
  3. PSGN:
    -2 to 3 weeks after an antecedent strep pharyngitis.
    -low complement levels, esp. C3.
160
Q

What specific organ-specific abnormalities do patients with Turner syndrome (45 XO)present with?

A

-primary ovarian insufficiency,
-cardiac: CoA, Bicuspid Ao valve
-renal (in 30-40%): collecting-system malformations, horseshoe kidney, and/or renal ectopia (positional abnormalities) -> high risk of UTIs.
-osteoporosis -> pathologic fractures,
-Hashimoto thyroiditis, and
-type 2 diabetes mellitus.

161
Q

_____ treatment is indicated for an infant presenting with signs of acute bilirubin encephalopathy such as high-pitched cry, lethargy, seizures, poor feeding, hypertonicity, and arching of the body.

A

Immediate exchange transfusion.

162
Q

List some red flags indicating pathologic jaundice in a neonate.

A

-Jaundice appears on the 1st day of life.
-Total bilirubin more >5 mg/dL/day.
-Total bilirubin >19.5 mg/dL in a term infant.
-Direct bilirubin rises to >2 mg/dL.
-Jaundice persists past the second week of life.

163
Q

Phototherapy with ____ light is the principal treatment for unconjugated hyperbilirubinemia in a neonate with no s/s of neurotoxicity.

*Exchange transfusion is indicated if a neonate p/w signs and symptoms of neurotoxicity.

A

blue-green light;

phototherapy converts UCB into water-soluble compounds that can be excreted via urine.

164
Q

The s/s’s of CHF d/t a VSD in neonates are often subtle but _____ is a consistent sign on physical exam.

A

tachycardia as the heart attempts to maintain the cardiac output.

165
Q

CHF from a VSD in neonates typically presents around ___ weeks of life when the left-to-right shunt increases d/t the normal decrease in pulmonary vascular resistance.

A

between 6 and 8 weeks of life

166
Q

The murmur of ASD vs VSD?

A

ASD: soft mid-systolic murmur at LUSB.

VSD: Pansystolic at LLSB
-harsh and loud (smaller VSD), or
-soft (larger VSD)

167
Q

What are the consequences of meconium aspiration in a neonate?

A

mechanical effects: aspirated meconium -> airway obstruction -> hyper-inflation -> pneumothorax.

chemical injury: irritation & inflammation -> pneumonitis & inactivation of surfactant -> atelectasis).

Overall effect: hypoxemia and acidosis -> progress to persistent pulmonary HTN, increases morbidity and mortality.

168
Q

What are the risk factors for meconium aspiration syndrome (MAS)?

A

-Post-term births,
-antenatal/perinatal stress: intrauterine infection, umbilical cord compression, placental insufficiency, oligohydramnios, and perinatal asphyxia.

169
Q

_____ strategies are the mainstay management in infants p/w severe respiratory distress due to meconium aspiration syndrome (MAS).

A

PPV via CPAP, and admission in NICU;
Supportive: surfactant administration and/or inhaled nitric oxide.

170
Q

condylomata acuminata aka _____ are caused by ____ infectious agents.

A

aka anogenital warts caused by HPV 6, 11.

171
Q

After an initial increase in size and number, condylomata acuminata (anogenital warts) lesions ultimately resolve, typically within _____ duration.

A

12 months.

172
Q

Condylomata acuminata (anogenital warts) versus condyloma lata lesions?

A

Condyloma lata (secondary syphilis): moist, gray-white papules or plaques.

Condylomata acuminata aka anogenital warts (HPV 6, 11): soft papules with a slightly rough surface; may be skin-colored, erythematous, brown, or slightly violaceous; may present as cauliflower-like or “papillated” growth.

173
Q

What are the 5 P’s of lichen planus?

A

Pruritic, Purple, Polygonal, Planar (flat-topped) Papules.

174
Q

Copying geometrical shapes: fine motor development and hand-eye coordination:
2-year-old can copy ____.
3-year-old can copy _____.
4-year-old can copy ____.
5-year-old can copy _____.
6-year-old can draw a _____.

A

At age
2-year: copy straight lines or circles
3-year: copy a circle.
4-year: copy crosses and squares.
5-year: copy a triangle.
6-year: can draw a diamond.

175
Q

Ride a tricycle at age ____.

A

3 (years).

176
Q

4-year-olds can count up to ___.

A

4

177
Q

The diagnosis of active head lice infestation is made clinically based on the observation of _____ and/or ___.

A

live lice and/or the presence of viable eggs (lay within 1 cm of the scalp and match the color of the hair).

*non-viable eggs are located more distant from the scalp and appear white.

178
Q

First-line pharmacologic treatment of lice for children is _____.

A

topical permethrin

179
Q

_______ are the alternative topical treatments that can be used in patients with head lice exhibiting resistance to first-line topical permethrin.

A

ivermectin, malathion, or spinosad.

180
Q

_____ may be used for the t/t of head lice in patients with lice resistant to all topical pediculicides.

A

Oral ivermectin

181
Q

_____, an effective pediculicide used in adults is not recommended in children d/t possible ___ effect.

A

possible neurotoxic effect.

182
Q

Sepsis is also a ______ (? procoagulant, anticoagulant) state resulting in widespread coagulation and microvascular thrombi compromising O2 delivery to end organs;
evidenced by increased levels of the procoagulant molecule _____ in both adults and neonates with sepsis.

A

Sepsis is a pro-coagulant state;

also marked by increased levels of plasminogen activator inhibitor-1 (procoagulant) in both adults and neonates with sepsis.

183
Q

Staphylococcal scalded skin syndrome (SSSS) is a serious skin infection that usually occurs in patients less than _____ years of age.

A

less than 5 years of age.

184
Q

True/False?

Staphylococcal scalded skin syndrome (SSSS) is characterized by superficial blistering with mucosal sparing (but a mucosal infection may trigger SSSS) whereas SJS and TEN are marked by deeper blistering and erosions, and mucosal involvement.

A

True.

185
Q

____, ____, and _____ are the mainstays of treatment in patients with SSSS.

A

antibiotics, antipyretics, and IV hydration.

186
Q

SSSS in children usually follows a localized infection from the _____ areas; in adults, it may result from ____ foci.

A

In children: usually follows a localized infection from the URT, ears, conjunctiva, or umbilical stump.
In adults, it may result from an abscess, AV fistula infection, or septic arthritis.

NOTE: Often the source of SSSS cannot be identified in a patient.

187
Q

Staphylococcal scalded skin syndrome can differentiated from bullous impetigo based on _____ finding on PE, as both of them p/w blistering skin lesions caused by staphylococcal exotoxin.

A

In bullous impetigo, the staphylococcal exotoxin remains localized to the site of infection;

In SSSS, the staphylococcal exotoxins spread to distant sites via systemic circulation.

188
Q

True/False?

In SSSS desmoglein 1 breakdown leads to exfoliation that is primarily intra-epidermal (zona granulosa), and hence the site of cleavage is superficial, whereas TEN involves necrosis of the entire epidermis (site of cleavage is deeper).

A

True

189
Q

Rash of scarlet fever vesus the rash of SSSS?

A

Unlike scarlet fever, the rash of SSSS is more tender and exfoliating.

190
Q

Anti-MSSA antibiotics include _______, and anti-MRSA antibiotics include ____.

A

Anti-MSSA antibiotics: Cefazolin, Nafcillin, or Oxacillin

Anti-MRSA antibiotic: Vancomycin.

191
Q

Coverage against ____ may also be needed in patients with SSSS.

A

pseudomonas

192
Q

The application of topical silver sulfadiazine should be avoided in patients with SSSS d/t the risk of ____.

A

the r/o increased systemic absorption from the denuded skin, and resultant toxicity.

193
Q

A 15-year-old boy p/w intermittent headaches, tiredness, dizziness with high blood pressure on PE, hypokalemic metabolic alkalosis, low renin, and low aldosterone. His family history is positive for early onset HTN in his dad. What is the most likely diagnosis?

A

Liddle’s syndrome: involves constitutive activation of the epithelial sodium channel (ENaC) in the renal collecting tubules (CTs) -> increased absorption of Na+ and H2O in the CTs -> suppression of renin and aldosterone, and increased secretion of K+ & H+ into the urine -> clinically p/w signs and symptoms of (early-onset) HTN and hypokalemia (muscle cramps).

194
Q

What are some causes of secondary HTN with hypokalemia in young patients?

A
  1. Hyperaldosteronism: high aldosterone levels -> ↑↑reabsorption of Na+ (High BP), ↑↑ secretion of K+ and H+ into the urine (hypokalemia, met. alkalosis).
  2. Hypercortisolism:
    -progressive weight gain, facial plethora, HTN (early), hyperglycemia (diabetes), young adults with osteoporosis, proximal myopathy, pigmented palpable wide (>1 cm) striae, easy cutaneous bruising.
  3. Liddle Syndrome: constitutive activation of ENaC in the renal collecting tubules (CTs) -> ↑↑ reabsorption of Na+ (High BP), LOW RENIN, LOW ALDOSTERONE -> ↑↑ secretion of K+ and H+ into the urine (hypokalemia, met. alkalosis).
    -young person with f/h/o early-onset HTN.
195
Q

_____ agents can be sued to treat patients with Liddle syndrome.

A

ENaC inhibiting K+paring diuretics such as Triamterene or Amiloride.

196
Q

The diagnostic features of Kawasaki disease (KD) include: ___ (list all).

A

at least 5 days of fever + at least 4 of the following criteria
(or 2-3 criteria in incomplete KD)
(1) bilateral nonexudative conjunctivitis,
(2) mucositis: cracked, red lips or inflammation & denuding of the glossal tissue (strawberry tongue),
(3) polymorphous rash in the perineum, trunk, and extremities,
(4) diffuse erythema & edema of the extremities, and
(5) cervical lymphadenopathy 1.5 cm or larger.

197
Q

Post-infectious glomerulonephritis (PIGN), most commonly follows infections such as _____ (list all).

A

-streptococcal (GAS) sore throat (in this case PIGN aka PSGN),
-skin infections,
-osteomyelitis (less commonly).

198
Q

Some common supportive lab findings in the acute phase of Kawasaki disease (KD) include _____ findings.

A

-anemia,
-leukocytosis,
-elevated inflammatory markers (ESR, CRP),
-hypoalbuminemia, and
-elevated liver enzymes.

199
Q
A