Osmosis cards Flashcards

1
Q

how does complement deficiency C3 present

A

leads to severe pyogenic sinus and respiratory infections in child hood.
especially with encapsulated bacteria haemophilus influenza

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2
Q

what is transient tachypnea of the newborn and how does it present

A

benign condition that occurs in late preterm infants that presents as tachypnea, mildly increased work of breathing and presents with mild cyanosis. CXR shows diffuse perihilar streaking, patchy infiltrates, and sometimes air trapping.

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3
Q

what causes transient tachypnea of the newborn

A

failure of adequate clearance of fluid from alveoli at birth.

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4
Q

what is the cause of blueberry muffin rash

A

CMV infections and more specifically this is caused by extra medullary hematopoiesis

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5
Q

yolk sac tumors present how

A

most frequently occur in young boys and secrete Alpha fetoprotein the histological findings are Schiller-duval bodies

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6
Q

what is tuberous sclerosis

A

this is a phakomatoses. it is inherited autosomal dominant. ash-leaf spots angiofibromas, and shagreen patches. seizures and giant cell astrocytomas are common.

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7
Q

what is the method for approaching weight loss in children

A

maintenance of weight with increasing age. As the child grows in height they will thin out

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8
Q

what is strabismus

A

common disorder among children characterized by misalignment of the eyes. there are no visual deficits initially, but eventually the cortex will block one of the images.

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9
Q

how is strabismus managed

A

with corrective lenses. needs to be treated immediately. then surgery

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10
Q

what is amblyopia and how it is managed

A

this is lazy. and is characterized by the eyes not working together and results in decreased vision
This can be caused by strabismus. patching of the eye is the treatment

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11
Q

which eye do you patch in amblyopia

A

the normal eye. this causes the eye with weak extraoccular muscles to be forced back to normal

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12
Q

what is the most common cause of meningitis in infants

A

group B strep which is a gram-positive cocci

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13
Q

what is first line therapy for shigella in an adult

A

fluoroquinolone

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14
Q

what is the first line therapy for shigella for in pediatric patient

A

azithromycin.

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15
Q

what is amniotic band syndrome

A

this is when strands of amniotic fluid wrap around parts of the developing fetus. this can cause amputations.

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16
Q

anemia with echinocytes on blood smear

A

could be pyruvate kinase deficiency which is the second most common type of inherited blood disorders.

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17
Q

what is the most likely complication of varicella zoster infection

A

superimposed skin infection.

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18
Q

what is the presentation of DiGeorge syndnrome

A

recurrent respiratory infections, bifid uvula poor muscle tone.
22q11.2 microdeletion

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19
Q

what is the test of choice for Digoerge syndrome

A

FISH

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20
Q

what is the medical treatment for Wilsons disease

A

D-penicillamine

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21
Q

what is the pathophysiology of pyloric stenosis

A

this is hypertrophy of gastric outlet smooth muscle

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22
Q

what is the imaging for annular pancreas

A

characterized by pancreatic tissue surrounding the descending portion of the duodenum.

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23
Q

what is caudal regression syndrome

A

this is a spinal dysmorphism with veterebal agenesis caused by diabetes mellitus. it often presents with deformations of the lumbar spine and distention of the intestines

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24
Q

what bacteria is associated with dog bites and can produce a cellulitis and what is the treatment

A

pasturella multocida

penicillin

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25
Q

if left untreated what can a pasturella infection cause

A

osteomyelitis

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26
Q

what is the presentation of charcot-marie-tooth disease

A

autosomal dominant involving demyelination and damage of the peripheral nerves. usually results in diminished strength and proprioceptive/vibratory senses. it most commonly involves the peroneal nerves and may feature pes cavus

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27
Q

is life expectancy lower or higher in Charcot Marie tooth

A

same

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28
Q

what are the side effects of azithromycin

A

GI disturbance, QT, rash, prolongation, eosinophilia, rash

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29
Q

what is the presentation of croup

A

stridor and a barking cough. this is a pediatric infection caused by parainfluenza or influenza.

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30
Q

what is the treatment for croup

A

corticosteroids

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31
Q

what is the scoring system for croup

A
the Westley croup severity score
<3 mild croup
3-7 moderate 
8-11 severe 
>11 impending respiratory failure
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32
Q

what is on the Westley croup severity scoring system

A

level of consciousness, cyanosis, stridor, air entry, and retractions

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33
Q

what are the VACTERL anomalies

A

vertebral, anal atresia, cardiac deficits, tracheoesphageal atresia, renal and radial anomalies, limb defects.

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34
Q

what is the steeple sign and what does it indicate

A

this is narrowing of the trachea on frontal Xray indicative of croup and tracheal inflammation

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35
Q

what is pediatric localized Lyme disease treated with

A

oral amoxicillin.

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36
Q

what is the presentation of cystic fibrosis

A

thick and foul smelling bowel movements, hyperinflated lungs, predisposition to infections. decreased height and weight. defect in chloride channels.

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37
Q

what nutrients are sometimes lacking in breast milk that cause deficiencies

A

infants are highly subject to vitamin K deficiency

as well as vitamin D

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38
Q

what is the APGAR score a measure of

A

The one-minute APGAR score helps describe how the baby tolerated labor.
The five-minute APGAR score helps describe how thef baby tolerates life outside the womb, stimulation, and resuscitation.

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39
Q

what is the prophylaxis for gonococcal infection of the eye and what is the treatment in newborns

A

prophylaxis is erythromycin ointment and treatment is ceftrixone.

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40
Q

when do we screen for lead

A

1 and 2 years.

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41
Q

when do we screen for developmental milestones

A

9, 18, 30 months

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42
Q

when do we screen for ASDs

A

18 and 24 months

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43
Q

what should the mother be screened for during a child visit

A

maternal depression screening

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44
Q

what is the caloric requirement for the first 1-2 months for term infants

A

100-120kcal/kg/day

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45
Q

what is the caloric requirement for the first 1-2 months for preterm infants

A

115-130kcal/kg/day

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46
Q

what is the caloric requirement for the first 1-2 months for very pre\term infants

A

150kcal/kg/day

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47
Q

what are the early signs of hyperbilirubinemia of the newborn

A

high-pitched cry, jaundice, hypotonia, seizures, poor suck, lethargy.

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48
Q

what are the late signs of hyperbilirubinemia of the newborn

A

arched back, extensor flexion,

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49
Q

what is kernicterus

A

pathological term used to describe staining of the basal ganglia and cranial nerve nuclei by bilirubin. “Kernicterus” also describes the chronic clinical condition that results from the toxic effects of high levels of unconjugated bilirubin. abnormalities in tone and reflexes, choreoathetosis, tremor, oculomotor paralysis, sensorineural hearing loss and cognitive impairment.

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50
Q

what is one cause of hyperbilirubinemia of the newborn

A

hemolysis from Rh incompatibility.

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51
Q

how often does a newborn void at day 3

A

3-4 times a day

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52
Q

how often does a newborn void at day 6

A

6-8 times a day

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53
Q

how many stools does a newborn pass at day 6

A

meconium should no longer appear by day 3. the stools will be 3-4 times and often occur with feedings

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54
Q

what are the major risk factors for neonatal jaundice

A

Pre-discharge total serum bilirubin (TSB) or transcutaneous bilirubin (TcB) level in the high-risk zone
Jaundice observed in the first 24 hours of life
Blood group incompatibility, with positive direct antiglobulin test
Gestational age 35–36 weeks
Previous sibling received phototherapy
Cephalohematoma or significant bruising
Exclusive breastfeeding, particularly if nursing is not going well and weight loss is excessive
East Asian

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55
Q

what are the minor risk factors for neonatal jaundice

A
Pre-discharge TSB or TcB level in the high intermediate-risk zone
Gestational age 37–38 weeks
Jaundice observed before discharge
Previous sibling with jaundice
Macrosomic infant of a diabetic mother
Maternal age > 25 y
Male gender
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56
Q

what decreases the risk of neonatal jaundice

A
TSB or TcB level in the low-risk zone
Gestational age 41 week
Exclusive formula feeding
Black
Discharge from hospital after 72 hours
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57
Q

what are the signs of hunger in a baby

A

rooting, increased alertness, increased physical activity, mouthing

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58
Q

what is the definition of lethargy

A

as a level of consciousness characterized by the failure of a child to recognize parents or to interact with persons or objects in the environment.

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59
Q

what is the definition of listless

A

A listless child shows no interest in what is happening around herself.

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60
Q

what is the definition of toxic appearing child

A

A toxic condition is characterized by an appearance of pending physiologic collapse such as may be seen in sepsis, poisoning, acute metabolic crises, or shock. The child may be febrile, pale or cyanotic, with depressed mental awareness or extremely irritable and may demonstrate tachycardia, tachypnea and prolonged capillary refill.

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61
Q

what is the definition of a distressed child

A

A distressed child may have the appearance of working hard to maintain physiologic stability such as grunting, rapid breathing in order to maintain adequate oxygenation and ventilation.

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62
Q

how does congenital hypothyroidism present

A
Feeding problems
Decreased activity
Constipation
Prolonged jaundice
Skin mottling
Umbilical hernia
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63
Q

how does congenital adrenal hypoplasia present

A

Decreased feeding and activity are common in infants with CAH.
Salt-losing CAH presents with lethargy, vomiting, and dehydration that can progress to shock.

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64
Q

what are the causes of large fontanelles

A

skeletal disorders, chromosomal abnormalities such as Down syndrome, hypothyroidism, hydrocephalus, malnutrition.

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65
Q

what are the causes of small fontanelles

A

microcephaly, craniosynostosis, hyperthyroidism, normal variant

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66
Q

what is the cause of sunken fontanelles

A

dehydration

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67
Q

what are the causes of bulging fontanelles

A

meningitis, hydrocephalus, subdural hematoma, lead poisoning

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68
Q

what is the import in checking a serum ammonia on a baby

A

for inborn errors in metabolism

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69
Q

when does congenital hypothyroidism present

A

around the second week of life because the mothers thyroid hormone is somewhat protective

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70
Q

what is the presentation of congenital hypothyroidism

A
feeding problems
Decreased activity
Constipation
Prolonged jaundice
Skin mottling
Umbilical hernia

myxedematous facies

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71
Q

what other consequence does congenital hypothyroidism have

A

one of the most common causes of intellectual disability

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72
Q

when do most vaccine reactions occur

A

within 14 days

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73
Q

what is the most common cause of fever without a source

A

viral illness

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74
Q

what are some other causes of fever without a source

A
Urinary tract infection (UTI) - most common
Meningitis
Sepsis/Bacteremia
Pneumonia
Bacterial gastroenteritis
Osteomyelitis
Septic arthritis
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75
Q

what is kernigs sign

A

Kernig’s sign is resistance to extension of the knee.

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76
Q

what is brudzinskis sign

A

Brudzinski’s sign is flexion of the hip and knee in response to flexion of the neck by the examiner.

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77
Q

what is the best choice of antibiotic for UTI in children

A

ceftriaxone

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78
Q

what is the definition of a macular rash

A

Flat, circumscribed discoloration < 1 cm (> 1 cm is a patch)

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79
Q

what is the definition of a papular

A

Elevated, circumscribed solid lesion < 1 cm

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80
Q

what is the presentation of adenovirus

A

May cause upper respiratory tract infection, pharyngitis, conjunctivitis, tonsillitis, or otitis media
Potential for more severe infections in immunocompromised hosts

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81
Q

what is the presentation of Kawasaki disease

A
Fever for at least 5 days
Cervical adenopathy
Nonpurulent conjunctivitis
Nonspecific ("polymorphic") rash
Swelling and erythema of extremities
Mucosal inflammation
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82
Q

what is the presentation of measles

A

After a prodrome of fever (over 38.3 C, or 101 F), cough, coryza, and conjunctivitis, this maculopapular rash starts on the neck, behind the ears, and along the hairline.
The rash spreads downward, reaching the feet in two or three days.
The initial rash appears on the buccal mucosa as red lesions with bluish white spots in the center (known as Koplik spots). These have frequently disappeared by the time the patient presents to medical attention.
Immunization is very effective in preventing this infection.

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83
Q

what is the presentation of scarlet fever and what is the cause

A

group A strep
Fever
A diffuse, erythematous, finely papular rash (described as having a “sandpaper” texture) is pathognomonic
Rash often begins at neck, axillae, and groin and then spreads over trunk and extremities, typically resolving within four or five days

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84
Q

what is the presentation of varicella

A

Chicken pox:” rash starts on trunk and spreads to extremities and head
Each lesion starts as an erythematous macule, then forms a papule followed by a vesicle before crusting over
Lesions at various stages of development are seen in the same area of the body
Immunization is effective in preventing this infection

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85
Q

what is erythema infectiousum and what is the presentation

A

infection with Parvo virus B19
Also called 5th disease
Low grade fever followed by a rash, which starts as a facial erythema to the face (“slapped cheek” appearance), which can spread to the trunk and extremities and appears lacy
Can lead to pain and swelling of the extremities, as well as development of transient pure red cell aplasia which can lead to severe anemia in patients with underlying hemolytic disease.

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86
Q

what is roseola and what is it caused by

A

“Exanthem subitum.” Also called sixth disease
Erythematous macules start on trunk and spread to arms and neck (less commonly face and legs)
Rash is typically preceded by 3 to 4 days of high fevers, which end as the rash appears
Usually occurs in children under age 2 years

human herpes VI

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87
Q

what diseases often have strawberry tongue

A

Streptococcal pharyngitis
Kawasaki disease
Toxic shock syndrome

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88
Q

what is Kawasaki diseease

A

panvasculitis of unknown etiology. autoimmune response to unknown trigger. seasonal patterns of outbreaks, more likely to occur in Asians.

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89
Q

what is the acute phase of Kawasaki

A

Acute phase: onset through ~10 days. Fever and clinical findings are present, with serologic evidence of systemic inflammation (elevated acute phase reactants).

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90
Q

what is the subacute phase of Kawasaki

A

Subacute phase: 10 days through ~3 weeks. Fever resolves and clinical findings largely subside (often with peeling of hands and feet). Serologic evidence of inflammation continues.

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91
Q

what is the convalescent phase of kawasaki

A

Convalescent phase: 3 weeks through 6-8 weeks. All clinical findings have resolved. Continued serologic evidence of inflammation.

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92
Q

what is the cardiovascular complication of Kawasaki

A

coronary artery aneurysms

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93
Q

what is the treatment of kawasaki

A

high dose aspirin or IVIG

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94
Q

what are the most common causes of wheezing in children

A

viral URI, asthma, foreign body, gerd

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95
Q

what is the definition of chronic cough

A

greater than 4 week s

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96
Q

what are the two most likely pathogens in acute otitis media

A

strep pneumonae and haemophilus influenza

also morexella catarrhalis

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97
Q

what viruses are associated with acute otitis media

A

influezna, RSV and rhinovirus

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98
Q

what is the best treatment for otitis media

A

amoxicillin.

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99
Q

when is otitis media treated with amoxicillin/clavulunate

A

when it is concurrent or H flu is suspected.

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100
Q

what are the features of cerebral edema

A

headache, recurrent vomiting, inappropriate slowing of the heart rate (bradycardia), hypertension, irregular respirations, restlessness, increased drowsiness, abducens nerve palsy, abnormal pupillary responses, fixed dilated pupils.

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101
Q

what is a rare but serious complication of DKA

A

cerebral edema. this is rare, but the morbidity and mortality is high

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102
Q

what are the risk factors for cerebral edema

A

young age, high BUN at presentation, profound acidosis and with hypocapnia, administration of bicarbonate.

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103
Q

what are kussmaul respirations

A

distinctive deep rapid breathing where the patient is trying to blow off excess CO2.

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104
Q

what are the initial steps for treating DKA

A

aggressive fluid resuscitation. this will dilute the glucose, but insulin is the only thing that will correct the metabolic acidosis by suppressing lipolysis and keto genesis. need baseline CBC to see if an infection is the inciting factor. serum osmolality and urinalysis are necessary.

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105
Q

what is the sodium measurement in DKA

A

usually hyponatremia. this is due to the osmotic effects of glucose causing water to come out of the cell.

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106
Q

why are children more susceptible to dehydration than adults

A

Higher surface area:body mass ratio; hence, a greater relative area for evaporation to occur
Higher basal metabolic rates than adults, which generates heat and expends water, and
Higher percentage of body weight that is water (in infants, 70% of body weight is water; in children, 65%; and in adults, 60%).

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107
Q

what is the most likely causative organism for septic arthritis

A

staph aureus

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108
Q

what is the most likely causative organism for septic arthritis of the neonate:

A

group B strep

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109
Q

what is the most likely causative organism for septic arthritis of the infant and older child:

A

Group A and Streptococcus pneumoniae

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110
Q

what is the most likely causative organism for septic arthritis of in unimmunized children

A

Haemophilus influenzae type b

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111
Q

what is the most likely causative organism for septic arthritis of in (adolescents)

A

Neisseria gonorrhea

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112
Q

what is the most likely causative organism for septic arthritis of in children less than 4 years

A

Kingella kingae

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113
Q

what is the most common type of seizure in children

A

generalized tonic clonic

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114
Q

what is a simple partial seizure

A

With this type, there are often motor signs in a single extremity or on one side of the body.
However, focal onset seizure activity may spread to become generalized, making it difficult to distinguish from a generalized seizure.

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115
Q

what is a complex partial seizure

A

This type of seizure can occur at any age.
Altered level of consciousness is one of the hallmark features.
Complex partial seizures may include blank stare, lip-smacking, drooling, gurgling, as well as nausea and vomiting.
Automatisms are quasi-purposeful motor or verbal behaviors that are repeated inappropriately and commonly accompany complex partial seizures.
Complex partial seizures often last 30 seconds to 2 minutes and are associated with a post-ictal phase of confusion, sleep, or headache.
Secondary generalization can occur in up to one third of children, so it is important to question witnesses about initial features to help differentiate a complex partial seizure from a generalized seizure

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116
Q

why dont we perform a lumbar puncture in someone with increased intracranial pressure

A

because of the risk of brain herniation f

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117
Q

what is the treatment for chlamydia

A

doxycycline

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118
Q

what is the treatment gonnorrhea

A

ceftriaxone

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119
Q

what is the treatment for PID

A

ceftriaxone one time dose and doxycycline for 14 days
ceftriaxone and azithromycin
ceftriaxone, doxycycline and metronidazole.

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120
Q

when do we hospitalize patients for PID

A

Pregnancy
Previous noncompliance
High fever
Intractable vomiting
Inability to exclude a surgical emergency
Inadequate response on oral therapy within 72 hours
Tubo-ovarian abscess

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121
Q

what is the toxidrome for cholinergic (organophosphates)

A

Miosis and blurred vision
Increased gastric motility (nausea, vomiting, diarrhea)
Excessive tearing, salivation, sweating and urination
Bronchorrhea and bronchospasm
Muscle twitching and weakness
Bradycardia
Seizures and coma
Mnemonic: “SLUDGE” (salivation, lacrimation, urination, defecation, GI motility, emesis)

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122
Q

what is the toxidrome for anticholinergic (diphenhydramine/tricyclics)

A
Mydriasis (dilated pupils) "blind as a bat"
Dry skin "dry as a bone"
Red skin (flushed) "red as a beet"
Fever "hot as Hades"
Delirium and seizures "mad as a hatter"
Tachycardia
Urinary retention
Ileus
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123
Q

what is the toxidrome for sedative/hypnotic

A
Blurred vision (miosis or mydriasis)
Hypotension
Apnea and bradycardia
Hypothermia
Sedation, confusion, delirium, coma
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124
Q

what is the toxidrome for opioids

A
Miosis (constricted pupils)
Respiratory depression
Bradycardia and hypotension
Hypothermia
Depressed mental status (sedation, confusion, coma)
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125
Q

what is the toxidrome for sympathomimetics such as cocaine/pseudoephedrine

A

Mydriasis
Fever and diaphoresis
Tachycardia
Agitation and seizures

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126
Q

what are the broad categories that cause brain damge

A

hypoxia, hypoglycemia, shock

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127
Q

what is the most sensitive exam for volume status

A

heart rate

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128
Q

what is the definition of shock

A

a physiological state in which there is inadequate delivery of substrates and oxygen to meet the metabolic demands of the tissues.

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129
Q

How does early shock present

A

elevated heart and respiratory rates, peripheral blood vessel constriction (causing cool, clammy extremities and delayed capillary refill time), and decreased peripheral pulses (due to vasoconstriction and decreased stroke volume).

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130
Q

what is the drug of choice for meningiococcal prophylaxis in adults and the alternatives

A

ciprofloxacin

alternatives are rifampin, azithromycin and ceftriaxone

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131
Q

what is the atopic triad

A

asthma, allergies, eczema.

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132
Q

what are the common causative agents for impetigo

A

staph or strep pyogenes.

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133
Q

what are the treatments for impetigo

A

topical antibiotics such as mupirocin. sometimes, due to the serious complications such as abscess formation, systemic antibiotics are required.

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134
Q

what is the definition of failure to thrive

A

an infant is < 5th percentile for weight
an infant is < 5th percentile in weight for length, or
the rate of growth results in the infant crossing more than two major lines on the standard infant growth curve.

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135
Q

what are the organic causes of failure to thrive

A
Congenital heart defects
Cystic fibrosis
Gastroesophageal reflux
Neurologic disorders
Metabolic disease
Genetic abnormalities
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136
Q

what are the causes of non-organic failure to thrive

A

most are psychosocial

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137
Q

how does a maternal breast feeding issue present

A

the infant trying to feed more frequently and continually acting hungry.

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138
Q

what is the normal palpable liver edge

A

1 cm below the costal margin

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139
Q

what is the differential of hepatomegaly in infancy

A
Congestive heart failure
Hepatitis
Congenital infections
Inborn errors of metabolism
Anemias
Tumors (less commonly)
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140
Q

classic findings of CHF in an infant

A
dyspnea with feedings
diaphoresis
poor growth
an active precordium
hepatomegaly
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141
Q

what murmurs are more common in school aged children

A

Atrial septal defect and bicuspid aortic valve

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142
Q

what are the likely structural causes of CHF in infancy

A

VSD
Severe aortic stenosis
Coarctation of the aorta
Large patent ductus arteriosus

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143
Q

what are the most common presenting symptoms of CHF in infancy

A

trouble feeding and respiratory symptoms

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144
Q

why are VSD murmurs unlikely to present in an infant at the nursery

A

because they have increased pulmonary vascular resistance. this makes the systemic and pulmonary vascular resistances the same and there is a failure to shunt thus the murmur is null

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145
Q

what are the treatments for CHF in a newborn

A

furosemide, digoxin, enalapril

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146
Q

what is mottled skin a sign of

A

circulatory insufficiency or collapse.

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147
Q

what are the causes of splenomegaly in a child

A

Infection (e.g. Epstein-Barr virus, cytomegalovirus, bacterial sepsis, endocarditis) is the most common cause of splenomegaly in children. Other causes include hemolysis (sickle cell disease), malignancy (leukemia, lymphoma), storage diseases (e.g. Gaucher disease), systemic inflammatory diseases (e.g. systemic lupus erythematosus, juvenile idiopathic arthritis), and congestion (a complication of portal hypertension).

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148
Q

what are the most common causes of arthritis in children

A
Trauma
Septic arthritis
Transient synovitis
Reactive arthritis (e.g., post-streptococcal arthritis)
Lyme disease
Rheumatic fever
Juvenile idiopathic arthritis
Systemic lupus erythematosus
Henoch-Schönlein Purpura
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149
Q

what is henoch-shonlein purpura

A

(also known as anaphylactoid purpura) is a self-limited, IgA-mediated, small vessel vasculitis that typically involves the skin, GI tract, joints, and kidneys. most commonly diagnosed form of vasculitis in children (about 50% of cases). Boys are more affected than girls.

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150
Q

what is the hallmark of henoch-shonlein purpura

A

hallmark of HSP is non-thrombocytopenic purpura

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151
Q

what is a serious complication of henoch-shonlein purpura

A

About 5% of children with HSP progress to chronic renal failure. Fewer than 1% will develop end-stage renal disease.
50% of the patients with HSP will also develop GI symptoms, such as GI bleeding
5-10% develop intussusception.

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152
Q

How does HSP and ITP differ

A

ITP has low platelet

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153
Q

what is the most likely disease course of HSP

A

goes away in a month without treatment

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154
Q

what is the most common cause of nephrotic syndrome

A

minimal change disease.

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155
Q

what is the most common cause of apnea in children

A

RSV

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156
Q

what is BRUE

A

brief resolved unexplained event. characterized by cyanosis or pallor
absent, decreased, or irregular breathing
marked change in tone (hyper- or hypotonia)
altered level of responsiveness.

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157
Q

what is the pathophysiology of sickle cell disease

A

SCD is a group of disorders characterized by substitution of valine for glutamic acid at the sixth amino acid position of the hemoglobin molecule. This mutation leads to the formation of polymers of hemoglobin when the hemoglobin becomes deoxygenated. These polymers lead to deformation of the red blood cell into the characteristic “sickle” cells. Sickle cells have increased adherence and block blood flow in the microvasculature, which leads to local tissue hypoxia, pain, and tissue damage.

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158
Q

what are the two most common surgeries in children with sickle cell disease

A

tonsillectomy and cholecystectomy.

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159
Q

why do children with sickle cell disease get cholecystectomy

A

because of all the hemolysis which leads to accumulation of bilirubin gallstones

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160
Q

why do children with sickle cell get tonsillectomy

A

Lymphoidal-tissue hypertrophy involving Waldeyer’s ring is common in children with sickle cell disease. Excessive snoring may be observed, as well as obstructive sleep apnea.
Some physicians think tonsillar hypertrophy may relate to desaturation of hemoglobin and increase the risk of sickling.
Tonsillectomy with adenoidectomy will improve the obstructive apnea for most patients.

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161
Q

why is penicillin given to children with sickle cell

A

to prevent infections that lead to sepsis. they have autosplenectomy and are at risk for encapsulated infections

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162
Q

what can be given to patients with sickle cell if they have increase vasoocclusive symptoms

A

hydroxyurea

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163
Q

what are some common complications of sickle cell disease

A

jaundice, anemia, stroke. pneumonia and lung issues are also common.

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164
Q

what are the two leading bacteria that cause morbidity and mortality in sickle cell patients

A

haemophilus and pneumococcal

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165
Q

what is the inheritance for sickle cell

A

autosomal recessive

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166
Q

do children with sickle cell have normal growth?

A

impairment in growth in sickle cell is common

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167
Q

what causes the growth impairment in sickle cell

A
Chronic anemia
Poor nutrition
Painful crises
Endocrine dysfunction
Poor pulmonary function
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168
Q

what are the baseline hemoglobin for sickle cell patients

A

between 6 and 9

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169
Q

is fever serious in sickle cell disease

A

yes. fever is a medical emergency in a sickle cell patient

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170
Q

what are some medical emergencies in sickle cell disease

A

fever, splenic enlargement, slurred speech, chest pain, rapid breathing, increased pallor, jaundice, priapism

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171
Q

what are the features of the down syndrome facies

A

Upslanting palpebral fissures
Small ears (usually less than 34 mm at maximum dimension in a term infant)
Flattened midface
Epicanthal folds
Redundant skin on back of neck (nuchal skin)
Hypotonia (most consistent finding in infants with Down syndrome) small brachycephalic head, Brushfield spots, small shaped mouth, single transverse palmar crease, short fifth finger with clinodactyly, and wide spacing and a deep plantar groove between the first and second toes. The degree of cognitive impairment is variable and may be mild (IQ of 50–70), moderate (IQ of 35–50), or occasionally severe (IQ of 20–35).

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172
Q

what other congenital findings are associated with downs syndrome

A

congenital hearing loss, congenital cataracts, heart disease, gastrointestinal atresia, hip displasia and hypothyroidism

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173
Q

what medical monitoring should be performed in Down syndrome

A

Annual thyroid screening (due to an increased incidence of hypothyroidism, even if not present at birth)
Vision screening (due to increased incidence of vision problems)
Hearing screening (due to increased incidence of hearing problems)
Complete blood count in first month to assess for leukemoid reactions, or transient myeloproliferative disorders (TMD)
Referral to a pediatric cardiologist (due to the increased incidence [50%] of structural heart disease in patients with Down syndrome and the difficulty of auscultating some of these cardiac defects)
Beginning at 1 year of age, and then annually, a hemoglobin and hematocrit should be obtained to screen for iron deficiency anemia (due to increased risk for iron deficiency due to lower dietary iron intake than their peers)
Referral for evaluation by early intervention is key to a child with Down syndrome receiving any needed therapies as early as possible.

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174
Q

what are the physical exam findings for turners syndrome

A

Webbed neck
Low ear placement
Edema of the hands and feet
Hyperconvex nails, and
“Shield” chest, with widely spaced nipples
Coarctation of the aorta is found in about 20% of affected girls.
Short stature is common, and some girls are not diagnosed until early adolescence when they present with short stature and delayed sexual maturation (due to gonadal dysgenesis).
Most have a normal IQ.

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175
Q

what are the domains of developmental monitoring

A

Gross motor
Fine motor
Communication (sometimes broken down into receptive and expressive language)
Personal-social
Problem-solving (also called self-help, cognitive, or adaptive in some frameworks)

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176
Q

when is development screened

A

9, 18, 24, 30 months

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177
Q

what are the types of cerebral palsy

A

spastic quadriplegia, spastic diplegia, dyskinetic cerebral palsy, hemiplegia, ataxic cerebral palsy

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178
Q

what is the etiology of and clinical scenario for spastic diplegia

A

usually legs greater than arms, periventricular white matter abnormality, found in premature infants.

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179
Q

what is the etiology of and clinical scenario for dyskinetic cerebral palsy

A

basal ganglia, cerebellum, thalamic abnormalities. perinatal ataxia, kernicterus

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180
Q

what is the etiology of and clinical scenario for spastic hemiplegia

A

arm and leg on one side; unilateral UMN, stroke

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181
Q

what is the etiology of and clinical scenario for ataxic cerebral palsy

A

affects the entire body, cerebellar abnormalities, cerebellar hypoplasia, pontocerebellar hypoplasia.

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182
Q

what are the leading causes of cerebral palsy

A

prematurity by far the most common. intrauterine growth retardation, chorioaminitis, perinatal ataxia

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183
Q

what is the def of failure to thrive

A

Weight falls below the 3rd percentile
Weight for height/length falls below the 3rd percentile
The rate of weight gain slows compared with previous growth, crossing two or more major percentiles on the growth chart in a downward direction.

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184
Q

what is the most common cause of failure to thrive

A

insufficiency of caloric intake

Insufficient intake
Excessive losses
Excessive caloric need.

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185
Q

what is the most common cause of abdominal pain in school-aged children

A

functional abdominal pain.

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186
Q

what is functional abdominal pain

A

chronic recurrent abdominal pain that is nonspecific and non-life threatening. considered a functional disconnect between the gasterenteric nervous system and the mental nervous system.

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187
Q

what are the red flag symptoms for abdominal pain in children

A

Involuntary weight loss
Deceleration of linear growth
Gastrointestinal blood loss
Significant vomiting
Chronic severe diarrhea
Persistent right upper or right lower quadrant pain
Unexplained fever
Family history of inflammatory bowel disease
Abnormal or unexplained physical findings

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188
Q

what brain tissues does Hyperbilirubinemia affect

A

basal ganglia, cranial nerve nuclei, subthalamic nuclei.

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189
Q

how does acute bilirubin encephalopathy present

A

hypotonia, somnolence, and loss of primitive reflexes.

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190
Q

what is the main source of heme in neonatal jaundice

A

from the breakdown of red blood cells/aging red blood cells

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191
Q

what is the minor sources of heme in neonatal jaundice

A

Minor sources come from ineffective erythropoiesis and breakdown of hemoproteins including muscle myoglobin and liver enzymes.

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192
Q

what is a common presentation of influenza

A

cough, pharyngitis and fever

193
Q

what is the presentation of congenital syphilis

A

Hutchinson teeth, sensorineural hearing loss, saddle nose, saber shins. this can result in hydros fetalis, hepatitis and blindness.

194
Q

what is the treatment for in utero syphilis

A

penicillin G

195
Q

what is the presentation of congenital CMV

A

periventricular calcifications, petechial rash, hepatosplenomegaly, jaundice, microcephaly, retinitis

196
Q

how is APGAR scored

A

Appearance: 2 - Pink, 1 - Acrocyanosis (Blueish extremities), 0 - Totally Blue
Pulse: 2 - >100/min, 1 - <100/min, 0 - None
Grimace: 2 - Crying, 1 - Whimpering, 0 - Silent
Activity: 2 - Active muscle tone and movement, 1 - Moderate, 0 - Limp
Respiratory: 2 - Regular breathing, 1 - Irregular breathing, 0 - No breathing

197
Q

what is the presentation of congenital gonococcal infection of the eyes, how is it different from chlamydial and what is the treatment for both

A

Gon is purulent; chlamydial is watery non purulent.
treatment for gon is erythromycin
treatment for chlamydial is azithromycin to mother before birth or oral erythromycin to prevent pneumonia in baby

198
Q

what is the presentation and the cause of Edwards syndrome

A

this is the second most common genetic trisomy.

prominent occiput, micrognathia, flexed fingers with overlap, congenital heart defects.

199
Q

what is the cause and presentation of patau syndrome

A

the triad of cleft lip or palate, mircoophthalmia, polydactyly

200
Q

what is a common presentation of cystic fibrosis

A

meconium ileus, pancreatic insufficiency, diarrhea and malabsorption, vitamin D deficiency and rickets

201
Q

what is the presentation of infant respiratory distress syndrome

A

hyperpnea, tachycardia, chest wall retractions, expiratpory grunting, nasal flaring, and cyanosis

202
Q

what is congenital adrenal hyperplasia and how does it present

A

commonly caused by 21-hydroxylase deficiency. affected female infants have ambiguous genitalia (males do not), hyperkalemia, hyponatremia, hypoglycemia, and shock within days of birth. similar to Addisons

203
Q

pyruvate dehydrogenase deficiency presentation and treatment

A

hypotonia, poor feeding, lethargy, and lactic acidosis or E1 deficiency. treatment is increasing the ketogenic nutrient intake. causes elevated alanine and lactic acidosis

204
Q

what are the only two ketogenic amino acids

A

leucine and lysine

205
Q

what is the presentation of tinea capitis

A

patchy hair loss with short split ends.

206
Q

what is the cause of tinea capitis

A

mcirosporum canis

207
Q

when can cows milk be introduced into a babies diet

A

not until 9-12 months

because there is not sufficient nutrients to supplement

208
Q

what are the common comorbidities with ADHD

A

oppositional defiant disorder, tourettes, depression

209
Q

what is subglottic stenosis

A

common cause of stridor in children characterized by biphasic stridor without signs of infection.

210
Q

what are the four types of twin pregnancies and when do they occur

A

4 types of monozygotic twin pregnancies (depending on when division happens):

  1. Dichorionic, Diamniotic - 0-3 days after fertilization
  2. Monochorionic, Diamniotic - 4-8 days after fertilization
  3. Monochorionic, Monoamniotic - 9-12 days after fertilization
  4. Conjoined twins - 13+ days after fertilization
211
Q

what is first line treatment for strep pharyngitis

A

penicillin

212
Q

what is the cause of pinworm infection

A

enterobius vermicularis

213
Q

what is mecune Albright syndrome

A

triad of patchy skin pigmentation, bone abnormalities and endocrine/hormonal abnormalities. Skin findings include large cafe-au-lait spots with characteristic jagged borders.
spontaneous mutation in the GNAS1 gene

214
Q

what is the presentation of California encephalitis virus

A

auses encephalitis characterized by symptoms, such as headaches, to more severe symptoms like seizures.

215
Q

what bacteria causes symptoms after a dog bite and what is the treatment

A

pasteurella multocida
penicillin

FYI this is not the same bacteria that causes cat-scratch fever

216
Q

what bacteria causes cat-scratch fever

A

bartonella henselae

217
Q

what childhood disease can cause hydrops fetalis

A

fifths disease/erythema infectiosum

parvovirus

218
Q

what other tests should be performed on someone with celiac disease and why

A

check the serum glucose and thyroid panel as celiac is autoimmune in nature and could have other autoimmune diseases

219
Q

what is the most appropriate treatment for thyroid disease

A

beta blockers and methimazole

220
Q

what syndromes cause conjugated hyperbilirubinemia

A

dubin-jonsons and rotor

221
Q

how do you tell the difference between Dubin-johnson and rotor

A

the biliary system cannot visualized in Dubin-johnsons

222
Q

what syndromes cause elevated unconjugated hyperbilirubinemia

A

Gilbert and Crigler-Najjar

223
Q

what are the cardiac defects associated with fetal alcohol syndrome

A

ASDs, VSDs, teratology of fallot, aberrant great vessels.

224
Q

what gene puts infants at risk for breastmilk jaundice

A

UGT1A1

225
Q

when does breastmilk jaundice occur

A

later onset 1-6 weeks of life.

226
Q

what are the labs for breastmilk jaundice

A

usually an indirect hyperbilirubinemia

227
Q

what is a common side effect of the measles vaccine

A

morbilliform rash
between 7-14 days after receiving the shot. This reaction is well-described, and is not painful, itchy, or contagious to others. The rash is not a contraindication to receiving future doses of the measles or other vaccines

228
Q

what is the presentation of measles

A

3-4 day prodrome of fever, cough, coryza and conjunctivitis. This is followed by 1-2 day presentation of Koplik spots and a 6 day presentation of a red, maculopapular rash that spreads from the forehead→ face→ torso→extremities and disappears in the same order.

229
Q

what is a serious side effect of measles

A

subacute sclerosing pan encephalitis

230
Q

what is a side effect of the mumps

A

orchitis

231
Q

When can you give NSAIDs to a baby?

A

They are contraindicated in babies under the age of 6 months.

232
Q

What is WAGR syndrome and what is the proper management for a patient with it

A

Wilms tumor, aniridia, genitourinary abnormalities (cryptorchidism/hypospadius), and retardation (cognitive impairment)
need a renal ultrasound for Wilms tumor

233
Q

what is the presentation of beckwith-wiedemann syndrome

A

characterized by macroglossia, gigantism, hyperinsulinemia and hypoglycemia.
macroglossia, large visceral organs, and a history of omphalocele or other abdominal wall defects.

234
Q

what tumors occur in about 10-% of patients with Beckwith-wiedemann

A

About 10% of patients develop tumors such as Wilms’ tumor, rhabdomyosarcoma, or hepatoblastoma.

235
Q

What is the appropriate managment for a baby that has had a febrile seizure

A

reassure the parents. they can monitor the child at home

236
Q

what quad test is suggestive of edward

A

inhibin a normal
AFP low
estradiol low
hCG low

237
Q

what quad test is suggestive of down

A

α-fetoprotein and estriol concentrations are low, while human chorionic gonadotropin and inhibin A concentrations are high.

238
Q

what quad test is suggestive of patau syndrome

A

not considered a reliable screening method for this condition.

239
Q

what is the appropriate treatment for coarctation of the aorta

A

prostaglandin E1 to maintain the ductus and balloon angioplasty to fix the coarctation

240
Q

what must occur to be diagnosed with immune/idiopathic thrombocytopenic purpura

A

viral illness weeks before

241
Q

what isBernard–Soulier syndrome (BSS)

A

autosomal recessive platelet dysfunction disorder, that causes a deficiency of glycoprotein Ib (GpIb). Patients with BSS often present with recurrent epistaxis, menorrhagia, easy bruising, purpura, and petechiae.

242
Q

is hypertrophic cardiomyopathy concentric or eccentric and is it diastolic or systolic dysfunction

A

it is concentric and diastolic

243
Q

what is hypertrophic cardiomyopathy

A

autosomal dominant disease often leading to sudden cardiac death, especially in young athletes. The myocardium becomes concentrically hypertrophied with sarcomeres in parallel which causes a thickened and stiff ventricle. These ventricles can no longer fill properly, leading to diastolic heart failure. A lack of cardiac output results in syncopal episodes, and outflow obstruction also occurs as the myocardial septum thickens and blocks flow of blood through the mitral valve.

244
Q

what is the cutoff for gap acidosis

A

12

245
Q

what causes high anion gap metabolic acidosis

A
MUDPILES
methanol
uremia
diarrhea
polyethylene glycol
isoniazid/iroin
lactic acidosis 
ethanol
sepsis and salicylates
246
Q

what is the best way to diagnose lactose intolerance

A

hydrogen excretion in the breath after lactose administration, in the context of clinical symptoms. Bacteria typically break down the undigested lactose into carbon dioxide and hydrogen. A lactose breath hydrogen test is more specific than acidic stool pH.

247
Q

what are the most common places for dermatitis herpetiformis eruptions

A

the knees, elbows and the buttocks

248
Q

what is required to diagnose dermatitis herpetiformis

A

skin biopsy

249
Q

hot does a trichophyton rubum infection present

A

like flesh colored bumps that are itchy. pompholyx-like” refers to a vesicular pattern of eczema that appears on the hands or feet.

250
Q

what is the treatment for preeclampsia and what is the side effect to the babay

A

magnesium sulfate

can cause hypotonia in the baby. this is self-limited

251
Q

what does maternal heroin treatment due to the baby

A

causes hypertonia and irritability

252
Q

what is homocysteinuria

A

autosomal recessive disorder of methionine metabolism that leads to the buildup of homocysteine and its metabolites in the blood and urine. Homocysteine is a key metabolite in trans-sulfuration that leads to the synthesis of proteins.

253
Q

what is the treatment of homocysteinuria

A

increased B6 in the diet

254
Q

what is the presentation of phenylketonuria

A

intellectual disability, psychiatric disorder, seizures.

255
Q

what is Alagille syndrome

A

paucity of interlobular bile ducts. This paucity leads to chronic cholestasis in affected children. Commonly seen clinical manifestations are posterior embryotoxon (ring-like opacity around the cornea), butterfly vertebrae and triangular faces as seen in the case above. Also observed are cardiac abnormalities (usually pulmonic stenosis), short stature, renal disease and developmental delay.

256
Q

what is the preferred treatment of corneal abrasion in children

A

The treatment of choice for corneal abrasions in children is erythromycin ointment, and no pressure patch is needed.

257
Q

what is the best way to cure spontaneous pneumothorax

A

pleurodesis

either mechanical or chemical

258
Q

what causes rheumatic fever

A

strep pyogenes infection.

259
Q

what is the treatment for rheumatic fever

A

long term penicillin treatment

260
Q

what is the measurement of FSH in PCOS

A

decreased due to the lack of pulsatile GnRH

261
Q

what happens to theca cells in PCOS

A

they become overstimulated

262
Q

what is blood and mucous in the stool indicative of

A

dysentery

caused by shigella dysenteriae

263
Q

what is Rett syndrome

A

a rare, X-linked genetic postnatal disorder of grey matter and is characterized by early normal growth and development, followed by a loss of milestones. It affects girls exclusively because males die in utero. Clinical features include small hands and feet and a decrease rate of head growth.

264
Q

what is a common abuse burn pattern

A

the buttocks in a circular restricted pattern

265
Q

what tumor is associated with refractory celiacs disease

A

refractory celiac disease have an elevated risk of developing small bowel T-cell lymphoma, which is a non-Hodgkin lymphoma that affects T cells.

266
Q

what is the presentation of DiGeorge syndrome

A

thymic hypoplasia, recurrent infections, ataxia, hypocalcemia

267
Q

what chromosomal abnormality is found in DiGeorge

A

22q11.2

268
Q

how does galactokinase deficiency present

A

autosomal recessive metabolic disorder caused by a deficiency in galactokinase, the first enzyme involved in galactose metabolism. Deficiencies often leads to the accumulation of galactose and galactitol, which typically presents as cataracts in early infancy due to the accumulation of galactitol in the lens.

269
Q

Can cause echovirus cause aseptic meningitis

A

yes. they are a common cause of meningitis. they do not cause muscle paralysis, however, and that is one way to distinguish them from poliovirus

270
Q

how does iron poisoning present

A

presents with gastric symptoms of diarrhea, vomiting, and melena due to gastric ulceration. The metabolic acidosis that results several hours after ingestion causes tissue damage, particularly of the liver and brain.

271
Q

what is Pachyonychia congenita

A

is an autosomal-dominant condition caused by a mutation in a keratin gene characterized by malformed nails, plantar and palmar keratoderma, oral leukoplakia, and other skin problems due to hyperkeratosis.

272
Q

what genetic condition causes heart tumors

A

tuberous sclerosis

273
Q

what is tuberous sclerosis

A

Tuberous sclerosis is an autosomal dominant phakomatosis disorder characterized by varied clinical manifestations, such as seizures, mental retardation, skin lesions, and multiple hamartomas affecting multiple organ systems (i.e., heart, brain, and kidney)

274
Q

what is the adult version of the tetanus vaccine

A

Tdap

275
Q

what is the pediatric version

A

DTap

276
Q

when do children need to get another tetanus booster/the adult booster

A

at the age of 11-12

277
Q

what is constitutional growth delay

A

is the most common cause of prepubertal short stature and pubertal delay. The parents of these parents will often describe themselves as “late bloomers.”
this causes late puberty asa well, or below average testicular enlargement by 13 years old.

278
Q

what liver tumor is associated with familial adenomatous polyposis coli

A

hepatoblastoma

279
Q

what is the presentation of wilms tumor

A

haracterized by palpable abdominal mass, fever, nausea, vomiting, hematuria, and hypertension. Histologic examination shows a tumor arising from the fetal kidney and is characterized by blastemal, stromal, and epithelial cells (triphasic tumor).

280
Q

if post strep glomerulonephritis is suspected then what is the next step

A

to assess kidney function and metabolic function with a BMP

281
Q

is prophylactic splenectomy recommended for sickle cell

A

NO

282
Q

what is the presentation of C3 deficiency

A

C3 complement deficiency is characterized by recurrent purulent infections and increased risk of type III hypersensitivity reactions.

283
Q

what is the presentation of rocky mountain spotted fever

A

blanching maculopapular rash beginning on the wrists/ankles, later spreading to the extremities and the trunk. Involvement of palms and soles is pathognomonic. RMSF is treated with doxycycline within 4 days of disease onset.

284
Q

what is the normal tanner development course

A

tits, pits, mits, lips.

thelarche, pubarche, growth spurt, menarche

285
Q

periarticular sinus and pits are caused by what

A

incomplete fusion of the hillock of his

this is of the first and second brachial arch

286
Q

what is a trachoma and what is the cause

A

caused by chlamydia trachomatis infections and is the leading cause of preventable blindness. untreated or retreated infections lead to scarring of the eye lids and cause the eye lashes to turn inwards and development of the corneal ulcers

287
Q

galactosemia is what and what should be avoided

A

an autosomal recessive disorder due to a lack of galactose-1-phosphate uridyl transferase. Avoid breastfeeding in children with galactosemia because lactose in the milk contains galactose and glucose monosaccharides.
avoid lactose and galactose

288
Q

why should patients with galactosemia avoid lactose

A

because lactose is molecule consisting of glucose and galactose

289
Q

what is the presentation of kwashiorkor

A

this is dermatitis, protuberant abdomen, edema because of a lack of albumin production

290
Q

what is a hordeolum what causes it and what is the treatment

A

an acute focal infection caused by Staphylococcus aureus involving either the glands of Zeis (external hordeola or styes) or the meibomian glands (internal hordeola). Hordeola essentially represent focal abscesses with symptoms of acute inflammation, such as a painful and swollen red lump on the eyelid. The eyelid lump can sometimes cause a corneal astigmatism, which results in blurry vision Medical therapy for hordeola includes eyelid hygiene, warm compresses and massages of the lesions, and topical antibiotic ointment in the inferior fornix if the lesion is draining. Oral doxycycline may also be added if there is a history of multiple or recurrent lesions.

291
Q

what is the presentation of angleman syndrome

A

frequent laughter, hand flapping, seizures, ataxia, and developmental delay.

292
Q

how is the presentation TB different in young patients

A

fever, weight loss, cervical lymphadenopathy, and lower respiratory tract symptoms.

293
Q

what is the first step in diagnosing Tb

A

The first step in differentiating this from other respiratory diseases is a tuberculin skin test.

294
Q

what does the rash for fifth disease look like

A

lacy macular rash

295
Q

what is the most common presentation of fifth disease

A

fever, runny nose, diarrhea and then a rash several days later
watch for the macular lacy rash. also cheeks are red! SLAPPED CHEEK

296
Q

what is the epidemiology and known associations of histoplasmosis

A

endemic to the Ohio, Missouri and Mississippi River valleys in the United States. Transmission occurs through contamination of soil with bat droppings, and infection has been asspciated with construction and renovation activities that disrupt the contaminated soil.

297
Q

what is the presentation of coccidiodomycoses.

A

is a respiratory infection caused by Coccidioides, a soil fungus that is endemic to Southwestern United States. While infection is often asymptomatic, in some patients it can cause pneumonia with hemoptysis and cavitary lesions

298
Q

what is the treatment for coccidiosis

A

include ketoconazole, fluconazole, and itraconazole.

299
Q

what is the best treatment for neisseria meningitis

what is the empirical therapy

A

a 3rd generation cephalosporin such as ceftriaxone.Empirical therapy of community-acquired suspected bacterial meningitis in children and adults should include a combination of dexamethasone, a third- or fourth-generation cephalosporin, and vancomycin.

300
Q

what is the presentation of a posterior urethral valve

A

an obstruction in the urinary tract of a newborn male, most likely due to defective development. It often presents with difficulty in urination, and urinary tract infections.

301
Q

what is the test of choice for a posterior urethral valve

A

A voiding cystourethrogram is a highly specific imaging test conducted to diagnose PUV.

302
Q

what is the presentation of a baby that was born from oligohydramnios

A

POTTER syndromePulmonary hypoplasia, oligohydramnios (trigger),twisted face, twisted skin, extremities defects, and renal failure (in utero).

303
Q

what is the presentation of severe iron deficiency anemia

A

cause pica (cravings for non-nutritious foods like ice, hair, and dirt) and trichotillomania.

304
Q

what is the presentation of osteogenesis imperfecta outside of broken bones

A

common symptoms include blue sclera, dental imperfections, and hearing loss.

305
Q

what is the presentation of Alport sydnrome

A

an inherited defect in type IV collagen, resulting in glomeruloneuphritis, end-stage kidney disease, and hearing loss. Blood in urine is a classic sign, and symptoms often appear in young adults, not newborns.

306
Q

what is the common presentation of capillary hemangioma

A

which is a benign skin lesion that grows rapidly in the first few months, and will likely involute before the child reaches nine years of age.

307
Q

what is the most common complication of a capillary hemangioma

A

ulceration

308
Q

what does rheumatic heart disease do to the heart

A

The carditis often affects the mitral, aortic, and tricuspid valves (in order of most common to least common) - all of which are exposed to relatively high-pressures, and it can lead to stenosis or regurgitation. The underlying mechanism is an immune mediated type II hypersensitivity reaction, where molecular mimicry causes the immune cells to attack the heart valves.

309
Q

what should you think when you think chlamydia eye infections of the newborn

A

the most common neonatal conjunctivitis and presents 5-14 days after birth. presents as eyelid edema, red and injected conjunctiva, watery or mucopurulent discharge. Can cause pneumonia in the new born.

310
Q

what should you think when you think gonnorhea eye infections of the newborn

A

less common cause of conjunctivitis and usually seen earlier within the first 5 days after birth with bilateral, profuse, purulent exudates and edematous eyelids. Gonococcal conjunctivitis has more potentially serious complications such as corneal ulceration, scarring and visual impairment and as such should be excluded.

311
Q

what is the presentation of HUS

A

diarrhea, bleeding, anemia, increased BUN and creatinine, proteinuria. it can cause acute renal failure, but not acute tubular necrosis.

312
Q

what is a known and dangerous complication of HUS

A

DIC

313
Q

what are some common infections caused by morexella caraharis

A

sinusitis, bronchitis, otitis media, laryngitis.

314
Q

what are the biological characteristics of morexella

A

aerobic, diplococcus, gram negative, oxidase positive, unable to metabolize maltose.

315
Q

what is bladder exstrophy, what is the presentation, immediate managment and what is it associated with

A

this is when the bladder is outside the abdominal wall, upon birth. immediately covering and irrigation with saline is treatment. surgical correction is the final. epispadius is associated.

316
Q

what is the presentation of minimal change disease and what is it treated with

A

most common cause of nephrotic syndrome in pediatric patients. It often presents after a viral illness and is treated with corticosteroids.

317
Q

what does gestational diabetes put the baby at risk for

A

hypoglycemia, seiures, polycythemia, hypocalcemia, hypomagnesemia, cardiomegaly, renal vein thrombosis, prematurity, macrosomia, shoulder dystocia and intrauterine growth retardation.

318
Q

what are mothers with gestational diabetes at risk for

A

Mothers are at risk for preeclampsia, gestational hypertension, polyhydramnios, and infection.

319
Q

what is the treatment for cat scratch disease in an immunocompetent

A

observance and supportive.

320
Q

what is the presentation of cat scratch fever

A

of a brownish-red papule at the site of inoculation after 7-12 days, followed by tender regional lymphadenopathy 1-4 weeks later. Immunocompetent patients may appear well otherwise or may have a persistent fever; other systemic signs such as malaise, sore throat and anorexia are less common. Painless conjunctivitis is the most common atypical presentation

321
Q

what is a serious consequence of cat scratch fever

A

bacillary angiomatosis. Immunocompromised patients may have much more extensive systemic disease including bacillary angiomatosis and peliosis.

322
Q

what is the treatment of choice for acute otitis media

A

amoxicillin

323
Q

what change in management for refractory acute otitis media

A

change from amoxicillin to amoxicillin/clavulanate

324
Q

what are the trinucleotide repeat diseases

A

Huntington, fredrick ataxia, myotonic dystrophy, fragile X syndrome

325
Q

what is the presentation of firebricks ataxia

A

most frequently presents in adolescence with scoliosis, neurological abnormalities, diabetes mellitus, and cardiomyopathy.

326
Q

what is required for the diagnosis of croup

A

a cough

327
Q

what is the most common cause of stridor in children

A

croup.

328
Q

what is the presentation of acute epiglottitis

A

a potentially life-threatening airway condition characterized by respiratory distress, stridor, copious drooling, and pharyngitis that is now uncommon due to the high uptake of the Haemophilus influenza B vaccine. The priority of management is obtaining a secure airway.

329
Q

what is hypospadias associated with

A

cryptorchidism and inguinal hernias.

330
Q

Can a circumcision be performed on someone with hypospadias

A

No. this is a contraindication

331
Q

what is the presentation of phenylketonuria

A

an autosomal recessive condition that typically results from a deficiency in phenylalanine hydroxylase, an enzyme responsible for converting the amino acid phenylalanine to tyrosine. Treatment often includes dietary restrictions such as the avoidance of aspartame and amino acid (protein) rich foods.

332
Q

what is one treatment for PKU

A

avoiding protein rich foods such as meats. because the patients are deficient in the enzyme that converts phenylalanine to tyrosine

333
Q

what is the treatment of croup

A

oral or intramuscular dexamethasone

334
Q

what is the most likely cause of death in a baby with Edward syndrome

A

central apnea

335
Q

what are the most likely causes of acute otitis media

A

most commonly caused by Streptococcus pneumoniae, Moraxella catarrhalis, or Haemophilus influenzae (non-typeable strain)

336
Q

what is the most common presentation of sickle cell anemia in young children

A

dactylitis

severe pain the hands and feet

337
Q

how is the diagnosis of coanal atresia made

A

clinical suspcion, passing a nasal catheter and CT scan.

338
Q

what causes strep throat

A

Streptococcal pharyngitis is caused by group A Streptococcus, which is gram-positive, beta-hemolytic, and bacitracin-sensitive. It is characterized by an exudative pharyngitis.

339
Q

breast feeding jaundice is what and what are cause

A

this is due to inadequate intake. this causes the decreased motion of the bowel and increased reuptake of the bilirubin from the stool, thus there will be more bilirubin from the enterohepatic circulation.

340
Q

are papsmears necessary after HPV vaccinations

A

of course, because it doesnt cover all the genotypes.

341
Q

what other cause of a lack of red reflex

A

leukocoria is caused by congenital cataract and retinoblastoma

342
Q

what is the presentation of kallman syndrome

A

anosmia, hypogonadotrophic hypogonadism, failure to begin or complete puberty

343
Q

what is the presentation of hand foot and mouth disease

A

this is caused by coxsackie virus A16. is a common, mild, and short-lasting viral infection most often affecting children less than 5 years old. It is characterized by blisters on the hands and feet and in the mouth. Many children present with loss of appetite because they have oral ulcers that are very painfu

344
Q

what diseases affect the palms and soles

A

CaRS

Coxsackie A, Rickettsia/Rocky Mountain Spotted Fever, and Secondary Syphilis.

345
Q

what bacteria is responsible for comeodomal acne

acne vulgaris

A

Acne vulgaris is most commonly associated with the Cutibacterium acnes (formerly Propionibacterium acnes).

346
Q

what is the leading cause of neonatal heart blcok

A

neonatal lupus.

maternal antibodies can cross the placenta and cause neonatal lupus. the baby can even present with a rash

347
Q

what does lactose intolerance do to the pH of stool

A

it reduces it. makes it acidic

348
Q

what is the genetic association with Crigler-Najjar II

A

UGT1A1

349
Q

what is the treatment for Crigler-Najjar II

A

phenobarbital this induces CYP450

350
Q

what is the appropriate way to stop a nose bleed

A

uncomplicated nosebleeds includes upright + forward-leaning posture, application of pressure to the anterior of the nose, and potentially gauze wetted with decongestant spray. In repetitive epistaxis, clotting disorders like Von Willebrand Disease should be considered.

351
Q

vesicles on the palms and soles with negative viral swab is likely what

A

scabies

352
Q

what is the treatment for diabetic keto acidosis

A

correct fluid loss with IV fluids, hyperglycemia with insulin, electrolyte disturbances and acid-base balance and treatment of concurrent infection if present. Fluid resuscitation is always the first best step in management of DKA.

353
Q

what does a high FSH indicate

A

primary ovarian failure

especially in the setting of primary amenorrhea

354
Q

what is the testing for primary amenorrhea with high FSH

A

a genetic test should be performed for turners, vanishing testes syndrome, or absent testis determining factor

355
Q

what is Liddle syndrome

A

Dysfunctional ENaC –a sodium channel in the collecting tubules
characterized by hypertension, hypokalemia, metabolic alkalosis. there is low serum renin, aldosterone, and low aldosterone urinary secretion.

356
Q

what is nectar americanus

A

this is the causal organism for cutaneous larva migrans

357
Q

what is the causal organism for elephantitis

A

wuchereria bancrofti

358
Q

what is the treatment for irregular menses in the first 1-2 years of menarche

A

reassurance, as there is a lot of variability during that time period for menstrual development.

359
Q

what is the empiric treatment for bacterial meningitis in a baby under one month of age

A

ampicillin and cefotaxime

360
Q

what does bone marrow look like during acute leukemia

A

In acute leukemias, blast forms predominate - accounting for at least 20% of the total cellularity of a bone marrow biopsy sample.

361
Q

what is the presentation of mumps

A

Mumps is caused by viruses of the genus Paramyxoviridae and is characterized by conjunctivitis, parotitis, orchitis, and pancreatitis.

362
Q

what is the presentation of orbital cellulitis

A

it is caused by a spread of infection from the ethmoid sinuses or a facial infection It is often characterized by a recent sinusitis or upper respiratory infection, with fever, eye pain and decreased vision. Proptosis and ophthalmoplegia are key findings that separate this condition from pre-septal (periorbital) cellulitis

363
Q

what is the treatment for orbital cellulitis

A

IV antibiotics

364
Q

what is the presentation of duchenes muscular dystrophy

A

Gower’s sign is the hallmark sign of duchenne muscular dystrophy - the child will ‘walk’ his hands up his legs to push himself to a standing position. A dystrophin gene mutation causes muscle cell instability and breakdown.

365
Q

Treatment for tinea capitis

A

an oral anti-fungal agent. Griseofulvin is first-line therapy, although terbinafine is also becoming first-line treatment and requires a shorter treatment course. Fluconazole and Itraconazole are alternatives.

366
Q

what is referring syndrome, what causes it and what does it look like

A

Refeeding syndrome is one cause of hypophosphatemia, along with alcoholism, vitamin D deficiency, respiratory alkalosis, and hereditary diseases. Hypophosphatemia can cause muscle weakness, altered mental status, rhabdomyolysis, immunodeficiency, and osteomalacia

367
Q

what is the presentation of familial dysautonomia

A

no fungiform papillae on the tongue, decreased deep tendon reflexes, lack of an axon flare following intradermal histamine, and no overflow tears with emotional crying.
is a rare autosomal-recessive genetic disorder involving the IKBKAP gene. It results in autonomic and sensory neuropathies and can lead to decreased pain and temperature sensation.

368
Q

what is a tocolytic example

A

Tocolytics (e.g. beta-2 agonists, calcium channel blockers) relax the uterus and are used in the treatment of preterm labor.

369
Q

what is glanzmanns thrombasthenia

A

This patient’s presentation with multiple ecchymotic patches, swollen gums, and a petechial rash is suggestive of platelet dysfunction disorder. Glanzmann’s thrombasthenia is a rare type of platelet dysfunction disorder in which the platelets contain defective or low levels of glycoprotein IIb/IIIa (GpIIb/IIIa), which is a receptor for fibrinogen. As a result, no fibrinogen bridging of platelets to other platelets can occur, and the bleeding time is outstandingly prolonged.

370
Q

what is highly associated with umbilical hernia

A

congenital hypothyroidism

371
Q

where are the most common places for a Mongolian spot

A

buttocks, back, shoulders

372
Q

what is the natural course of Mongolian spot

A

usually disappears in 3-5 years

373
Q

what is the treatment for absence seizure

A

ethosuximide

374
Q

where does the weber test localize

A

to the side affected by conductive hearing loss

375
Q

where does the rinne test reveal for conductive hearing loss

A

bone conduction will be greater than air conduction on the affected side.

376
Q

what type of hypersensitivity is poison ivy/oak

A

this is delayed type IV.

T cell mediated

377
Q

what are some type IV hypersensitivity reactions

A

PPD, poison ivy, allograft reaction and graft vs host

378
Q

what is the treatment for meconium aspiration syndrome

A

supplemental oxygen, ampicillin, and gentamicin.

379
Q

how much higher is the rate of testicular cancer in someone with cryptorchidism

A

22X

380
Q

is it possible to preserve fertility in someone with cryp[torchidism

A

yes. if surgery is performed before the age of one in unilateral, the fertility rate is close to 90%

381
Q

what is the presentation of congenital hypothyroidism

A

hypotonia, lethargy, macroglossia, large fontanelles, and dry skin.
protuberant abdomen dry, brittle hair and low hairline

382
Q

what is the diagnosis of a child with prolonged course of otitis media and focal neurologic deficit in the form of expressive aphasia

A

temporal lobe abscess until proven otherwise

383
Q

what are the diagnostic criteria for kawasaki

A

erythema or edema of palms and soles followed by membranous desquamation; generalized polymorphic rash that may be limited to groin or lower extremity; oropharyngeal changes (“strawberry tongue” and fissuring of lips); bilateral, nonexudative, painless bulbar conjunctivitis; cervical lymphadenopathy; and fever lasting for more than five days.

384
Q

what is the treatment for a rapidly expanding hemangioma

A

propanolol

385
Q

what is the presentation of Ehlers danlos in an infant

A

joint hyperflexibility, bruising/ecchymoses, cigarette paper skin
this is caused by collagen defect

386
Q

transient erythroblastemia of childhood

A

this is a temporary normocytic anemia with low to normal reticulocyte count that occurs after a URI

387
Q

what genetic diseases are associated with acute leukemia

A

NF1, fanconi anemia, li-freumeni, Klinefelter and down syndriome

388
Q

what is the presentation of thrombotic thrombocytopenia

A

FAT RN

fever, anemia, thrombocytopenia, neurological (psychiatric as well), renal failure

389
Q

what is physiologic jaundice

A

2 days - 2 weeks of life. A newborn’s immature liver often can’t remove bilirubin quickly enough, thus, an excess of unconjugated bilirubin remains in the bloodstream.

390
Q

is salicylic acid recommended for inflammatory acne

A

no.

391
Q

what is used in the treatment of moderate acne

A

topical retinoids, benzoylperoxide, and an antibiotic (typically macrolide)

392
Q

what is the presentation of the rash in toxic shock syndrome

A

diffuse erythematous rash that desquamates as the patient recovers

393
Q

what is the presntation of toxic shock syndrome

A

infection with Staphylococcus aureus or Streptococcus pyogenes. Both form toxins that produce abrupt onset of local or diffuse pain, fever, confusion, vomiting, signs of soft tissue infection, and sometimes a diffuse erythema that desquamates as the patient recovers.

394
Q

what is the presentation of 17-alpha-hydroxylase deficiency

A

inability to produce glucocorticoid and androgen hormones, and a resultant increase in mineralocorticoid production. Patients with XY chromosomes are born with a female external appearance (with ambiguous genitalia) and an absence of internal female reproductive organs.
hypokalemia, hypertension
testes in the inguinal canal, female ambiguous genitalia

395
Q

what is the presentation of toxoplasmosis of the infant

A

classic triad of chorioretinitis, hydrocephalus, and intracranial calcifications. Other manifestations include intrauterine growth restriction, premature birth, jaundice, hepatosplenomegaly, rash, microcephaly, and seizures.

396
Q

Congenital cytomegalovirus infection can cause

A

jaundice, hepatosplenomegaly, thrombocytopenia, microcephaly, chorioretinitis, and intracranial calcifications; however, the most common sequela is sensorineural deafness,

397
Q

Congenital varicella syndrome classically presents with

A

cutaneous scarring (depressed and pigmented lesions in a dermatomal distribution), ophthalmic manifestations (cataracts, chorioretinits, microphthalmos, nystagmus), and limb hypoplasia. Affected neonates may also have cortical hypoplasia and seizures.

398
Q

Infants with perinatal herpes simplex virus (HSV) infection are

A

usually asymptomatic at birth, developing symptoms later. HSV infection may present with localized disease involving the characteristic vesicles but may also cause disseminated disease, which can progress rapidly to hypotension and shock.

399
Q

Congenital rubella infection classically presents with a

A

“blueberry muffin” rash, hepatosplenomegaly, and thrombocytopenia. Sensorineural deafness, cataracts, and cardiac malformations are also common.

400
Q

how is low folate diagnosed

A

Folate deficiency can be diagnosed by elevated serum homocysteine.

401
Q

how is low B12 diagnosed on labs

A

B12 deficiency manifests as elevated levels of both homocysteine and methylmalonic acid.

402
Q

if someone has scabies who should be treated

A

the entire household because its highly contagious

403
Q

How is scabies treated

A

permethrin

404
Q

Fetal valproate syndrome can be characterized by

A

ventricular septal defect, cleft palate, facial anomalies, and (most concerning) spina bifida. Its potential for teratogenicity is why valproate is contraindicated in pregnancy.

405
Q

what is the cause of neonatal hypoglycemia due to maternal diabetes

A

congenital hyperinsulinemia from developing in a glucose rash environment

406
Q

what is the proper course for a neonate that has been exposed to chickenpox

A

given immunoglobulin. Neonatal varicella can occur in infants born to mothers exposed to varicella-zoster virus within 2 weeks of delivery or exposed within 10 days of birth. this requires prophylaxis because neonatal varicella is high mortality. 30%

407
Q

what is the prophylactic treatment for neonatal varicella

A

IVIG

408
Q

what is the neonatal treatment for symptomatic varicella

A

acyclovir

409
Q

what is the most complication of seasonal flu

A

acute otitis media

410
Q

what are the most complications of seasonal flu

A

acute otitis media, pneumonia, febrile seizures,

411
Q

what is the presentation of congenital rubella

A

of patent ductus arteriosus on echocardiography, cataracts, hearing loss, and microcephaly

412
Q

what is the presentation of scaled skin syndrome

A

widespread formation of fluid filled blisters that are thin walled and easily ruptured and the patient can be positive for Nikolsky sign, where slight rubbing of the skin results in exfoliation of the skin’s outermost layer.

413
Q

what is the treatment for botulinum toxin exposure in a neonate

A

human immunoglobulin and antitoxin

414
Q

what is selective IgA deficiency

A

the most common selective immunoglobulin deficiency. IgA is the main immunoglobulin isotype mediating mucosal immunity thus patients will commonly experience recurrent sinopulmonary and gastrointestinal infections.

415
Q

what is the treatment for serious jaundice

A

transfusion and phototherapy

416
Q

what are the signs of bilirubin encephalopathy

A

high pitched cry, lethargy, hypotonia

417
Q

what is the description of conjoined twins

A

mono amniotic, monochorionic

418
Q

what combination of amniotic and chorionic cannot be seen and why

A

mono amniotic and dichorionic because the chorion develops first.

419
Q

the possible combinations for all twin pregnancies are

A

monoamniotic and monochorionic, diamnionic and monochorionic, and diamniotic and dichorionic.

420
Q

what is the presentation of hereditary fructose intolerance

A

Hypoglycemia results and can cause tremors, seizures, and diaphoresis.

421
Q

what is the cause of hereditary fructose intolerance

A

aldolase B deficiency

422
Q

Immunosuppression is an absolute contraindication for live vaccines such as

A

MMR, Varicella + Zoster, Sabin polio, Influenza, Rotavirus and Yellow Fever.

423
Q

Loose anagen syndrome is

A

a condition characterized by hair which is easily removed from the scalp. These hair follicles will still be in anagen phase. Typically, this condition is self limiting and improves with age. No treatment is generally warranted at this time.

424
Q

Agenesis of the corpus callosum (ACC) is caused by the disruption to development of the brain between

A

the 3rd and 12th weeks of pregnancy.
possible causes include chromosomal errors, gene mutations, parental infections, prenatal toxic exposures, structural blockage and metabolic disorders.

425
Q

Chronic granulomatous disease is

A

a rare phagocyte dysfunction disease cause by a defect of NADPH oxidase, which can be diagnosed using the nitroblue tetrazolium dye reduction test, as well as the dihydrorhodamine test.

426
Q

the preferred treatment for moderate to severe cases of laryngotracheobronchitis, also known as croup is

A

Racemic epinephrine. Nebulized epinephrine will quickly reduce symptom severity and should be followed up by the administration of glucocorticoids (usually dexamethosone), which will provide longer lasting relief.

427
Q

what are two lesser known tumors associated with NF2

A

ependymoma and meningioma

428
Q

what happens if a patient has mononucleosis and they are given beta-lactam antibiotics

A

they can develop a hypersensitivity reaction and an intensely pruritic, morbillum rash on the extensor surfaces

429
Q

what is the most common cause of congenital hypothyroid

A

thyroid dysgenesis

430
Q

the most common form of thyroid dysgenesis is

A

ectopic thyroid;

431
Q

the most common form of ectopic thyroid is

A

lingual thyroid.

432
Q

what is the most likely brain bleed from shaken baby

A

subdural hematoma

433
Q

what is group B streps name

A

agalactiae

434
Q

Krabbe disease is

A

the combination of multinucleated globoid cells, optic atrophy, blindness, and motor delay. This condition is a sphingolipidosis disease caused by a deficiency of galactocerebrosidase.

435
Q

what is the treatment for salmonella

A

supportive therapy with fluid replacement

436
Q

what is a lesser known cause of pneumonia in cystic fibrosi

A

burkholderia cepacia

437
Q

the most common cause of congenital non-spherocytic chronic hemolytic anemia is

A

pyruvate kinase deficiency

438
Q

what is the course of pertussis

A

The catarrhal phase is similar to the common cold and manifests as a simple upper respiratory tract infection. This is likely the “very mild cold” that this patient experienced 6 weeks ago. The paroxysmal phase is characterized by “paroxysms” (or bouts) of coughing and lasts for up to 6 weeks. The name “whooping cough” comes from the rapid gasp for air observed in patients after a string of coughs, though this gasp is not always seen.

439
Q

Sturge-Weber syndrome (SWS) is

A

a rare, congenital, non-familial disorder that affects blood vessels - primarily capillaries. The hallmark feature of Sturge-Weber syndrome is facial capillary malformation, referred to as a port wine stain, which is usually visible at birth.

440
Q

what is the causal organism for impetigo

A

strep A infection which is pyogenesd

441
Q

what is a complication of imetigop

A

post-strep glomerulonephritis

442
Q

what is the presentation of Becker muscular dystrophy

A

The onset of Becker muscular dystrophy is around 15 years of age. Muscle biopsy shows degeneration, hypertrophic fibers, and replacement of muscle by fat and connective tissue.

443
Q

what is triple X syndrome

A

physical findings of tall stature, epicanthal folds, hypotonia, and clinodactyly. Triple X syndrome is also associated with conditions such as seizures, renal abnormalities, premature ovarian failure, and learning disabilities.

444
Q

what is the presentation of Edwards syndroime

A

IUGR, poly or oligo, clenched fists, rocker bottom feet

445
Q

hypertrophic cardiomyopathy is associated with which murmur

A

a harsh systolic murmur. heard at the left sternal border which decreases in intensity when moving from an upright to a supine position

446
Q

hypertrophic cardiomyopathy is what kind of inheritance

A

autosomal dominant

447
Q

where can neurofibromas occur

A

anywhere, even in the artery

448
Q

Odd parvovirus B19 presentation

A

lacy reticular rash, well-demarcated at the wrists and feet (papular-pruritic glove and socks syndrome), aplastic anemia.

449
Q

what is papular-purpuric gloves and socks syndrome is caused by what

A

viremic highly contagious parvovirus B19

450
Q

is a child infectious if they have slapped cheek rash and what causes it

A

parvovirus B19 and no, they are no longer effective

451
Q

what is bloom syndrome

A

chromosome 15 DNA helicase mutation. rash in sun-exposed areas

452
Q

Pathologic jaundice of the newborn is

A

jaundice which either during the first day of life, has total bilirubin >12, direct bilirubin >2, or shows rate or rise of >5/day.

453
Q

Periorbital cellulitis is differentiated from orbital cellulitis by

A

a lack of vision changes and pain with eye movement.

454
Q

Periorbital cellulitis can be treated with

A

oral antibiotics

455
Q

orbital cellulitis is a blank that requires blank

A

an emergency intravenous antibiotics and/or surgery.

456
Q

what is the alternative treatment for group A strep infection/scarlet fever

A

erythromycin is a macrolide used as back up

457
Q

the most common bleeding disorder

A

Von Willebrand disease (vWD) is the most common bleeding disorder, affecting 1 in 100 individuals. In girls with no past bleeding history, vWD is often diagnosed around menarche.

458
Q

post-streptococcal glomerulonephritis is

A

a disease affecting the small vessels of the kidneys caused by prior infection of specific strains of group A β-hemolytic streptococcus. As with other types of glomerulonephritis, it is characterized by hematuria, proteinuria, intrinsic acute kidney injury, and hypertension. d

459
Q

Primary amenorrhea with a lack of uterus development and otherwise normal secondary sexual characteristics is concerning for

A

Mullerian agenesis (XX) and androgen insensitivity syndrome (XY); these are distinguished with serum testosterone tests and/or a karyotype.

460
Q

Zellweger syndrome (ZS) is

A

a peroxisome biogenesis disorder which leads to the build up of very long chain fatty acids to toxic levels affecting multiple organ systems. ZS is characterized by high forehead, malformed earlobes, and flat looking face. Additionally seizures, hepatomegaly +/- jaundice, hydronephrosis, and hypotonia are key features.

461
Q

are turners patients infertile

A

yes

462
Q

can turners syndrome patients have chidlren

A

by using a donor oocyte

463
Q

what is the state of the ovaries in someone with turners

A

Suspect ovarian failure in girls who have no breast development by age 12 years or who have not started menses by age 14 years. Elevated levels of luteinizing hormone (LH) and follicle stimulating hormone (FSH) confirm ovarian failure.

464
Q

what are the most common causes of cerebral palsy

A

hypoxia, trauma, infection

465
Q

Tay-Sachs disease is

A

a progressive neurodegenerative disease due to a deficiency of the enzyme hexosaminidase A. Prior to one-year-old, it is characterized by loss of developmental milestones, seizures, hypotonia, hyporeflexia, and macrocephaly.

466
Q

how does congenital diaphragmatic hernia present

A

severe respiratory distress within the first 24 hours of life and is associated with lung hypoplasia

467
Q

what can diabetes in the mother cause in the red blood cells of the baby

A

polycythemia

468
Q

what are some treatments for GERD in the newborn

A

smaller and more frequent meals, thickening the formula with rice cereal, elevating the head to 20° to 30° after feeds.

469
Q

what is a brush field spot and what is it associated with

A

Down syndrome can be screened for by low α-fetoprotein and estriol concentrations. Brushfield spots are characteristic dysmorphic features on the iris of patients with Down syndrome.

470
Q

what are the two most common heart murmurs in turners syndrome

A

coarctation and bicuspid aortic valve

471
Q

what is the presentation of hypovitaminosis D

A

decreased mineralization around the epiphyses as well as bow-legs with prominent forehead and bumpy ribs are clear indications

472
Q

what is the treatment for testicular torsion.

A

immediate surgery and bilateral orchioplexy

473
Q

what is the treatment for cradle cap and what is the medical name for it

A

mild shampoo and a topical antifungal

seborrheic dermatitis

474
Q

what is the presentation of beckwith-weideman syndrome

A

macroglossia, abdominal wall defects, hypoglycemia due to hyperinsulinemia, films tumor

475
Q

if Rocky Mountain spotted fever is on the differential what is the first step

A

empiric treatment with doxycycline because it is rapidly fatal

476
Q

Crigler-Nijjar type 1 is what and what is the treatment

A

this is severe unconjugated bilirubinemia caused be a genetic defect.. liver transplant is required for survival and phototherapy is used while waiting

477
Q

what are the causes of hand foot and mouth

A

Coxsackie A19 and Enterovirus 71, members of the Picornoviridae family.

478
Q

what is the classic rash of rubella

A

begins on the face and spreads to the trunk