Osmosis cards Flashcards
how does complement deficiency C3 present
leads to severe pyogenic sinus and respiratory infections in child hood.
especially with encapsulated bacteria haemophilus influenza
what is transient tachypnea of the newborn and how does it present
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.
what causes transient tachypnea of the newborn
failure of adequate clearance of fluid from alveoli at birth.
what is the cause of blueberry muffin rash
CMV infections and more specifically this is caused by extra medullary hematopoiesis
yolk sac tumors present how
most frequently occur in young boys and secrete Alpha fetoprotein the histological findings are Schiller-duval bodies
what is tuberous sclerosis
this is a phakomatoses. it is inherited autosomal dominant. ash-leaf spots angiofibromas, and shagreen patches. seizures and giant cell astrocytomas are common.
what is the method for approaching weight loss in children
maintenance of weight with increasing age. As the child grows in height they will thin out
what is strabismus
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.
how is strabismus managed
with corrective lenses. needs to be treated immediately. then surgery
what is amblyopia and how it is managed
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
which eye do you patch in amblyopia
the normal eye. this causes the eye with weak extraoccular muscles to be forced back to normal
what is the most common cause of meningitis in infants
group B strep which is a gram-positive cocci
what is first line therapy for shigella in an adult
fluoroquinolone
what is the first line therapy for shigella for in pediatric patient
azithromycin.
what is amniotic band syndrome
this is when strands of amniotic fluid wrap around parts of the developing fetus. this can cause amputations.
anemia with echinocytes on blood smear
could be pyruvate kinase deficiency which is the second most common type of inherited blood disorders.
what is the most likely complication of varicella zoster infection
superimposed skin infection.
what is the presentation of DiGeorge syndnrome
recurrent respiratory infections, bifid uvula poor muscle tone.
22q11.2 microdeletion
what is the test of choice for Digoerge syndrome
FISH
what is the medical treatment for Wilsons disease
D-penicillamine
what is the pathophysiology of pyloric stenosis
this is hypertrophy of gastric outlet smooth muscle
what is the imaging for annular pancreas
characterized by pancreatic tissue surrounding the descending portion of the duodenum.
what is caudal regression syndrome
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
what bacteria is associated with dog bites and can produce a cellulitis and what is the treatment
pasturella multocida
penicillin
if left untreated what can a pasturella infection cause
osteomyelitis
what is the presentation of charcot-marie-tooth disease
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
is life expectancy lower or higher in Charcot Marie tooth
same
what are the side effects of azithromycin
GI disturbance, QT, rash, prolongation, eosinophilia, rash
what is the presentation of croup
stridor and a barking cough. this is a pediatric infection caused by parainfluenza or influenza.
what is the treatment for croup
corticosteroids
what is the scoring system for croup
the Westley croup severity score <3 mild croup 3-7 moderate 8-11 severe >11 impending respiratory failure
what is on the Westley croup severity scoring system
level of consciousness, cyanosis, stridor, air entry, and retractions
what are the VACTERL anomalies
vertebral, anal atresia, cardiac deficits, tracheoesphageal atresia, renal and radial anomalies, limb defects.
what is the steeple sign and what does it indicate
this is narrowing of the trachea on frontal Xray indicative of croup and tracheal inflammation
what is pediatric localized Lyme disease treated with
oral amoxicillin.
what is the presentation of cystic fibrosis
thick and foul smelling bowel movements, hyperinflated lungs, predisposition to infections. decreased height and weight. defect in chloride channels.
what nutrients are sometimes lacking in breast milk that cause deficiencies
infants are highly subject to vitamin K deficiency
as well as vitamin D
what is the APGAR score a measure of
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.
what is the prophylaxis for gonococcal infection of the eye and what is the treatment in newborns
prophylaxis is erythromycin ointment and treatment is ceftrixone.
when do we screen for lead
1 and 2 years.
when do we screen for developmental milestones
9, 18, 30 months
when do we screen for ASDs
18 and 24 months
what should the mother be screened for during a child visit
maternal depression screening
what is the caloric requirement for the first 1-2 months for term infants
100-120kcal/kg/day
what is the caloric requirement for the first 1-2 months for preterm infants
115-130kcal/kg/day
what is the caloric requirement for the first 1-2 months for very pre\term infants
150kcal/kg/day
what are the early signs of hyperbilirubinemia of the newborn
high-pitched cry, jaundice, hypotonia, seizures, poor suck, lethargy.
what are the late signs of hyperbilirubinemia of the newborn
arched back, extensor flexion,
what is kernicterus
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.
what is one cause of hyperbilirubinemia of the newborn
hemolysis from Rh incompatibility.
how often does a newborn void at day 3
3-4 times a day
how often does a newborn void at day 6
6-8 times a day
how many stools does a newborn pass at day 6
meconium should no longer appear by day 3. the stools will be 3-4 times and often occur with feedings
what are the major risk factors for neonatal jaundice
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
what are the minor risk factors for neonatal jaundice
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
what decreases the risk of neonatal jaundice
TSB or TcB level in the low-risk zone Gestational age 41 week Exclusive formula feeding Black Discharge from hospital after 72 hours
what are the signs of hunger in a baby
rooting, increased alertness, increased physical activity, mouthing
what is the definition of lethargy
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.
what is the definition of listless
A listless child shows no interest in what is happening around herself.
what is the definition of toxic appearing child
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.
what is the definition of a distressed child
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.
how does congenital hypothyroidism present
Feeding problems Decreased activity Constipation Prolonged jaundice Skin mottling Umbilical hernia
how does congenital adrenal hypoplasia present
Decreased feeding and activity are common in infants with CAH.
Salt-losing CAH presents with lethargy, vomiting, and dehydration that can progress to shock.
what are the causes of large fontanelles
skeletal disorders, chromosomal abnormalities such as Down syndrome, hypothyroidism, hydrocephalus, malnutrition.
what are the causes of small fontanelles
microcephaly, craniosynostosis, hyperthyroidism, normal variant
what is the cause of sunken fontanelles
dehydration
what are the causes of bulging fontanelles
meningitis, hydrocephalus, subdural hematoma, lead poisoning
what is the import in checking a serum ammonia on a baby
for inborn errors in metabolism
when does congenital hypothyroidism present
around the second week of life because the mothers thyroid hormone is somewhat protective
what is the presentation of congenital hypothyroidism
feeding problems Decreased activity Constipation Prolonged jaundice Skin mottling Umbilical hernia
myxedematous facies
what other consequence does congenital hypothyroidism have
one of the most common causes of intellectual disability
when do most vaccine reactions occur
within 14 days
what is the most common cause of fever without a source
viral illness
what are some other causes of fever without a source
Urinary tract infection (UTI) - most common Meningitis Sepsis/Bacteremia Pneumonia Bacterial gastroenteritis Osteomyelitis Septic arthritis
what is kernigs sign
Kernig’s sign is resistance to extension of the knee.
what is brudzinskis sign
Brudzinski’s sign is flexion of the hip and knee in response to flexion of the neck by the examiner.
what is the best choice of antibiotic for UTI in children
ceftriaxone
what is the definition of a macular rash
Flat, circumscribed discoloration < 1 cm (> 1 cm is a patch)
what is the definition of a papular
Elevated, circumscribed solid lesion < 1 cm
what is the presentation of adenovirus
May cause upper respiratory tract infection, pharyngitis, conjunctivitis, tonsillitis, or otitis media
Potential for more severe infections in immunocompromised hosts
what is the presentation of Kawasaki disease
Fever for at least 5 days
Cervical adenopathy
Nonpurulent conjunctivitis
Nonspecific ("polymorphic") rash
Swelling and erythema of extremities
Mucosal inflammationwhat is the presentation of measles
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.
what is the presentation of scarlet fever and what is the cause
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
what is the presentation of varicella
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
what is erythema infectiousum and what is the presentation
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.
what is roseola and what is it caused by
“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
what diseases often have strawberry tongue
Streptococcal pharyngitis
Kawasaki disease
Toxic shock syndrome
what is Kawasaki diseease
panvasculitis of unknown etiology. autoimmune response to unknown trigger. seasonal patterns of outbreaks, more likely to occur in Asians.
what is the acute phase of Kawasaki
Acute phase: onset through ~10 days. Fever and clinical findings are present, with serologic evidence of systemic inflammation (elevated acute phase reactants).
what is the subacute phase of Kawasaki
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.
what is the convalescent phase of kawasaki
Convalescent phase: 3 weeks through 6-8 weeks. All clinical findings have resolved. Continued serologic evidence of inflammation.
what is the cardiovascular complication of Kawasaki
coronary artery aneurysms
what is the treatment of kawasaki
high dose aspirin or IVIG
what are the most common causes of wheezing in children
viral URI, asthma, foreign body, gerd
what is the definition of chronic cough
greater than 4 week s
what are the two most likely pathogens in acute otitis media
strep pneumonae and haemophilus influenza
also morexella catarrhalis
what viruses are associated with acute otitis media
influezna, RSV and rhinovirus
what is the best treatment for otitis media
amoxicillin.
when is otitis media treated with amoxicillin/clavulunate
when it is concurrent or H flu is suspected.
what are the features of cerebral edema
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.
what is a rare but serious complication of DKA
cerebral edema. this is rare, but the morbidity and mortality is high
what are the risk factors for cerebral edema
young age, high BUN at presentation, profound acidosis and with hypocapnia, administration of bicarbonate.
what are kussmaul respirations
distinctive deep rapid breathing where the patient is trying to blow off excess CO2.
what are the initial steps for treating DKA
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.
what is the sodium measurement in DKA
usually hyponatremia. this is due to the osmotic effects of glucose causing water to come out of the cell.
why are children more susceptible to dehydration than adults
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%).
what is the most likely causative organism for septic arthritis
staph aureus
what is the most likely causative organism for septic arthritis of the neonate:
group B strep
what is the most likely causative organism for septic arthritis of the infant and older child:
Group A and Streptococcus pneumoniae
what is the most likely causative organism for septic arthritis of in unimmunized children
Haemophilus influenzae type b
what is the most likely causative organism for septic arthritis of in (adolescents)
Neisseria gonorrhea
what is the most likely causative organism for septic arthritis of in children less than 4 years
Kingella kingae
what is the most common type of seizure in children
generalized tonic clonic
what is a simple partial seizure
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.
what is a complex partial seizure
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
why dont we perform a lumbar puncture in someone with increased intracranial pressure
because of the risk of brain herniation f
what is the treatment for chlamydia
doxycycline
what is the treatment gonnorrhea
ceftriaxone
what is the treatment for PID
ceftriaxone one time dose and doxycycline for 14 days
ceftriaxone and azithromycin
ceftriaxone, doxycycline and metronidazole.
when do we hospitalize patients for PID
Pregnancy
Previous noncompliance
High fever
Intractable vomiting
Inability to exclude a surgical emergency
Inadequate response on oral therapy within 72 hours
Tubo-ovarian abscess
what is the toxidrome for cholinergic (organophosphates)
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)
what is the toxidrome for anticholinergic (diphenhydramine/tricyclics)
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
what is the toxidrome for sedative/hypnotic
Blurred vision (miosis or mydriasis) Hypotension Apnea and bradycardia Hypothermia Sedation, confusion, delirium, coma
what is the toxidrome for opioids
Miosis (constricted pupils) Respiratory depression Bradycardia and hypotension Hypothermia Depressed mental status (sedation, confusion, coma)
what is the toxidrome for sympathomimetics such as cocaine/pseudoephedrine
Mydriasis
Fever and diaphoresis
Tachycardia
Agitation and seizures
what are the broad categories that cause brain damge
hypoxia, hypoglycemia, shock
what is the most sensitive exam for volume status
heart rate
what is the definition of shock
a physiological state in which there is inadequate delivery of substrates and oxygen to meet the metabolic demands of the tissues.
How does early shock present
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).
what is the drug of choice for meningiococcal prophylaxis in adults and the alternatives
ciprofloxacin
alternatives are rifampin, azithromycin and ceftriaxone
what is the atopic triad
asthma, allergies, eczema.
what are the common causative agents for impetigo
staph or strep pyogenes.
what are the treatments for impetigo
topical antibiotics such as mupirocin. sometimes, due to the serious complications such as abscess formation, systemic antibiotics are required.
what is the definition of failure to thrive
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.
what are the organic causes of failure to thrive
Congenital heart defects Cystic fibrosis Gastroesophageal reflux Neurologic disorders Metabolic disease Genetic abnormalities
what are the causes of non-organic failure to thrive
most are psychosocial
how does a maternal breast feeding issue present
the infant trying to feed more frequently and continually acting hungry.
what is the normal palpable liver edge
1 cm below the costal margin
what is the differential of hepatomegaly in infancy
Congestive heart failure Hepatitis Congenital infections Inborn errors of metabolism Anemias Tumors (less commonly)
classic findings of CHF in an infant
dyspnea with feedings diaphoresis poor growth an active precordium hepatomegaly
what murmurs are more common in school aged children
Atrial septal defect and bicuspid aortic valve
what are the likely structural causes of CHF in infancy
VSD
Severe aortic stenosis
Coarctation of the aorta
Large patent ductus arteriosus
what are the most common presenting symptoms of CHF in infancy
trouble feeding and respiratory symptoms
why are VSD murmurs unlikely to present in an infant at the nursery
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
what are the treatments for CHF in a newborn
furosemide, digoxin, enalapril
what is mottled skin a sign of
circulatory insufficiency or collapse.
what are the causes of splenomegaly in a child
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).
what are the most common causes of arthritis in children
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
what is henoch-shonlein purpura
(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.
what is the hallmark of henoch-shonlein purpura
hallmark of HSP is non-thrombocytopenic purpura
what is a serious complication of henoch-shonlein purpura
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.
How does HSP and ITP differ
ITP has low platelet
what is the most likely disease course of HSP
goes away in a month without treatment
what is the most common cause of nephrotic syndrome
minimal change disease.
what is the most common cause of apnea in children
RSV
what is BRUE
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.
what is the pathophysiology of sickle cell disease
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.
what are the two most common surgeries in children with sickle cell disease
tonsillectomy and cholecystectomy.
why do children with sickle cell disease get cholecystectomy
because of all the hemolysis which leads to accumulation of bilirubin gallstones
why do children with sickle cell get tonsillectomy
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.
why is penicillin given to children with sickle cell
to prevent infections that lead to sepsis. they have autosplenectomy and are at risk for encapsulated infections
what can be given to patients with sickle cell if they have increase vasoocclusive symptoms
hydroxyurea
what are some common complications of sickle cell disease
jaundice, anemia, stroke. pneumonia and lung issues are also common.
what are the two leading bacteria that cause morbidity and mortality in sickle cell patients
haemophilus and pneumococcal
what is the inheritance for sickle cell
autosomal recessive
do children with sickle cell have normal growth?
impairment in growth in sickle cell is common
what causes the growth impairment in sickle cell
Chronic anemia Poor nutrition Painful crises Endocrine dysfunction Poor pulmonary function
what are the baseline hemoglobin for sickle cell patients
between 6 and 9
is fever serious in sickle cell disease
yes. fever is a medical emergency in a sickle cell patient
what are some medical emergencies in sickle cell disease
fever, splenic enlargement, slurred speech, chest pain, rapid breathing, increased pallor, jaundice, priapism
what are the features of the down syndrome facies
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).
what other congenital findings are associated with downs syndrome
congenital hearing loss, congenital cataracts, heart disease, gastrointestinal atresia, hip displasia and hypothyroidism
what medical monitoring should be performed in Down syndrome
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.
what are the physical exam findings for turners syndrome
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.
what are the domains of developmental monitoring
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)
when is development screened
9, 18, 24, 30 months
what are the types of cerebral palsy
spastic quadriplegia, spastic diplegia, dyskinetic cerebral palsy, hemiplegia, ataxic cerebral palsy
what is the etiology of and clinical scenario for spastic diplegia
usually legs greater than arms, periventricular white matter abnormality, found in premature infants.
what is the etiology of and clinical scenario for dyskinetic cerebral palsy
basal ganglia, cerebellum, thalamic abnormalities. perinatal ataxia, kernicterus
what is the etiology of and clinical scenario for spastic hemiplegia
arm and leg on one side; unilateral UMN, stroke
what is the etiology of and clinical scenario for ataxic cerebral palsy
affects the entire body, cerebellar abnormalities, cerebellar hypoplasia, pontocerebellar hypoplasia.
what are the leading causes of cerebral palsy
prematurity by far the most common. intrauterine growth retardation, chorioaminitis, perinatal ataxia
what is the def of failure to thrive
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.
what is the most common cause of failure to thrive
insufficiency of caloric intake
Insufficient intake
Excessive losses
Excessive caloric need.
what is the most common cause of abdominal pain in school-aged children
functional abdominal pain.
what is functional abdominal pain
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.
what are the red flag symptoms for abdominal pain in children
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
what brain tissues does Hyperbilirubinemia affect
basal ganglia, cranial nerve nuclei, subthalamic nuclei.
how does acute bilirubin encephalopathy present
hypotonia, somnolence, and loss of primitive reflexes.
what is the main source of heme in neonatal jaundice
from the breakdown of red blood cells/aging red blood cells
what is the minor sources of heme in neonatal jaundice
Minor sources come from ineffective erythropoiesis and breakdown of hemoproteins including muscle myoglobin and liver enzymes.
what is a common presentation of influenza
cough, pharyngitis and fever
what is the presentation of congenital syphilis
Hutchinson teeth, sensorineural hearing loss, saddle nose, saber shins. this can result in hydros fetalis, hepatitis and blindness.
what is the treatment for in utero syphilis
penicillin G
what is the presentation of congenital CMV
periventricular calcifications, petechial rash, hepatosplenomegaly, jaundice, microcephaly, retinitis
how is APGAR scored
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
what is the presentation of congenital gonococcal infection of the eyes, how is it different from chlamydial and what is the treatment for both
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
what is the presentation and the cause of Edwards syndrome
this is the second most common genetic trisomy.
prominent occiput, micrognathia, flexed fingers with overlap, congenital heart defects.
what is the cause and presentation of patau syndrome
the triad of cleft lip or palate, mircoophthalmia, polydactyly
what is a common presentation of cystic fibrosis
meconium ileus, pancreatic insufficiency, diarrhea and malabsorption, vitamin D deficiency and rickets
what is the presentation of infant respiratory distress syndrome
hyperpnea, tachycardia, chest wall retractions, expiratpory grunting, nasal flaring, and cyanosis
what is congenital adrenal hyperplasia and how does it present
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
pyruvate dehydrogenase deficiency presentation and treatment
hypotonia, poor feeding, lethargy, and lactic acidosis or E1 deficiency. treatment is increasing the ketogenic nutrient intake. causes elevated alanine and lactic acidosis
what are the only two ketogenic amino acids
leucine and lysine
what is the presentation of tinea capitis
patchy hair loss with short split ends.
what is the cause of tinea capitis
mcirosporum canis
when can cows milk be introduced into a babies diet
not until 9-12 months
because there is not sufficient nutrients to supplement
what are the common comorbidities with ADHD
oppositional defiant disorder, tourettes, depression
what is subglottic stenosis
common cause of stridor in children characterized by biphasic stridor without signs of infection.
what are the four types of twin pregnancies and when do they occur
4 types of monozygotic twin pregnancies (depending on when division happens):
- Dichorionic, Diamniotic - 0-3 days after fertilization
- Monochorionic, Diamniotic - 4-8 days after fertilization
- Monochorionic, Monoamniotic - 9-12 days after fertilization
- Conjoined twins - 13+ days after fertilization
what is first line treatment for strep pharyngitis
penicillin
what is the cause of pinworm infection
enterobius vermicularis
what is mecune Albright syndrome
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
what is the presentation of California encephalitis virus
auses encephalitis characterized by symptoms, such as headaches, to more severe symptoms like seizures.
what bacteria causes symptoms after a dog bite and what is the treatment
pasteurella multocida
penicillin
FYI this is not the same bacteria that causes cat-scratch fever
what bacteria causes cat-scratch fever
bartonella henselae
what childhood disease can cause hydrops fetalis
fifths disease/erythema infectiosum
parvovirus
what other tests should be performed on someone with celiac disease and why
check the serum glucose and thyroid panel as celiac is autoimmune in nature and could have other autoimmune diseases
what is the most appropriate treatment for thyroid disease
beta blockers and methimazole
what syndromes cause conjugated hyperbilirubinemia
dubin-jonsons and rotor
how do you tell the difference between Dubin-johnson and rotor
the biliary system cannot visualized in Dubin-johnsons
what syndromes cause elevated unconjugated hyperbilirubinemia
Gilbert and Crigler-Najjar
what are the cardiac defects associated with fetal alcohol syndrome
ASDs, VSDs, teratology of fallot, aberrant great vessels.
what gene puts infants at risk for breastmilk jaundice
UGT1A1
when does breastmilk jaundice occur
later onset 1-6 weeks of life.
what are the labs for breastmilk jaundice
usually an indirect hyperbilirubinemia
what is a common side effect of the measles vaccine
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
what is the presentation of measles
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.
what is a serious side effect of measles
subacute sclerosing pan encephalitis
what is a side effect of the mumps
orchitis
When can you give NSAIDs to a baby?
They are contraindicated in babies under the age of 6 months.
What is WAGR syndrome and what is the proper management for a patient with it
Wilms tumor, aniridia, genitourinary abnormalities (cryptorchidism/hypospadius), and retardation (cognitive impairment)
need a renal ultrasound for Wilms tumor
what is the presentation of beckwith-wiedemann syndrome
characterized by macroglossia, gigantism, hyperinsulinemia and hypoglycemia.
macroglossia, large visceral organs, and a history of omphalocele or other abdominal wall defects.
what tumors occur in about 10-% of patients with Beckwith-wiedemann
About 10% of patients develop tumors such as Wilms’ tumor, rhabdomyosarcoma, or hepatoblastoma.
What is the appropriate managment for a baby that has had a febrile seizure
reassure the parents. they can monitor the child at home
what quad test is suggestive of edward
inhibin a normal
AFP low
estradiol low
hCG low
what quad test is suggestive of down
α-fetoprotein and estriol concentrations are low, while human chorionic gonadotropin and inhibin A concentrations are high.
what quad test is suggestive of patau syndrome
not considered a reliable screening method for this condition.
what is the appropriate treatment for coarctation of the aorta
prostaglandin E1 to maintain the ductus and balloon angioplasty to fix the coarctation
what must occur to be diagnosed with immune/idiopathic thrombocytopenic purpura
viral illness weeks before
what isBernard–Soulier syndrome (BSS)
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.
is hypertrophic cardiomyopathy concentric or eccentric and is it diastolic or systolic dysfunction
it is concentric and diastolic
what is hypertrophic cardiomyopathy
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.
what is the cutoff for gap acidosis
12
what causes high anion gap metabolic acidosis
MUDPILES methanol uremia diarrhea polyethylene glycol isoniazid/iroin lactic acidosis ethanol sepsis and salicylates
what is the best way to diagnose lactose intolerance
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.
what are the most common places for dermatitis herpetiformis eruptions
the knees, elbows and the buttocks
what is required to diagnose dermatitis herpetiformis
skin biopsy
hot does a trichophyton rubum infection present
like flesh colored bumps that are itchy. pompholyx-like” refers to a vesicular pattern of eczema that appears on the hands or feet.
what is the treatment for preeclampsia and what is the side effect to the babay
magnesium sulfate
can cause hypotonia in the baby. this is self-limited
what does maternal heroin treatment due to the baby
causes hypertonia and irritability
what is homocysteinuria
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.
what is the treatment of homocysteinuria
increased B6 in the diet
what is the presentation of phenylketonuria
intellectual disability, psychiatric disorder, seizures.
what is Alagille syndrome
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.
what is the preferred treatment of corneal abrasion in children
The treatment of choice for corneal abrasions in children is erythromycin ointment, and no pressure patch is needed.
what is the best way to cure spontaneous pneumothorax
pleurodesis
either mechanical or chemical
what causes rheumatic fever
strep pyogenes infection.
what is the treatment for rheumatic fever
long term penicillin treatment
what is the measurement of FSH in PCOS
decreased due to the lack of pulsatile GnRH
what happens to theca cells in PCOS
they become overstimulated
what is blood and mucous in the stool indicative of
dysentery
caused by shigella dysenteriae
what is Rett syndrome
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.
what is a common abuse burn pattern
the buttocks in a circular restricted pattern
what tumor is associated with refractory celiacs disease
refractory celiac disease have an elevated risk of developing small bowel T-cell lymphoma, which is a non-Hodgkin lymphoma that affects T cells.
what is the presentation of DiGeorge syndrome
thymic hypoplasia, recurrent infections, ataxia, hypocalcemia
what chromosomal abnormality is found in DiGeorge
22q11.2
how does galactokinase deficiency present
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.
Can cause echovirus cause aseptic meningitis
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
how does iron poisoning present
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.
what is Pachyonychia congenita
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.
what genetic condition causes heart tumors
tuberous sclerosis
what is tuberous sclerosis
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)
what is the adult version of the tetanus vaccine
Tdap
what is the pediatric version
DTap
when do children need to get another tetanus booster/the adult booster
at the age of 11-12
what is constitutional growth delay
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.
what liver tumor is associated with familial adenomatous polyposis coli
hepatoblastoma
what is the presentation of wilms tumor
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).
if post strep glomerulonephritis is suspected then what is the next step
to assess kidney function and metabolic function with a BMP
is prophylactic splenectomy recommended for sickle cell
NO
what is the presentation of C3 deficiency
C3 complement deficiency is characterized by recurrent purulent infections and increased risk of type III hypersensitivity reactions.
what is the presentation of rocky mountain spotted fever
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.
what is the normal tanner development course
tits, pits, mits, lips.
thelarche, pubarche, growth spurt, menarche
periarticular sinus and pits are caused by what
incomplete fusion of the hillock of his
this is of the first and second brachial arch
what is a trachoma and what is the cause
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
galactosemia is what and what should be avoided
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
why should patients with galactosemia avoid lactose
because lactose is molecule consisting of glucose and galactose
what is the presentation of kwashiorkor
this is dermatitis, protuberant abdomen, edema because of a lack of albumin production
what is a hordeolum what causes it and what is the treatment
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.
what is the presentation of angleman syndrome
frequent laughter, hand flapping, seizures, ataxia, and developmental delay.
how is the presentation TB different in young patients
fever, weight loss, cervical lymphadenopathy, and lower respiratory tract symptoms.
what is the first step in diagnosing Tb
The first step in differentiating this from other respiratory diseases is a tuberculin skin test.
what does the rash for fifth disease look like
lacy macular rash
what is the most common presentation of fifth disease
fever, runny nose, diarrhea and then a rash several days later
watch for the macular lacy rash. also cheeks are red! SLAPPED CHEEK
what is the epidemiology and known associations of histoplasmosis
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.
what is the presentation of coccidiodomycoses.
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
what is the treatment for coccidiosis
include ketoconazole, fluconazole, and itraconazole.
what is the best treatment for neisseria meningitis
what is the empirical therapy
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.
what is the presentation of a posterior urethral valve
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.
what is the test of choice for a posterior urethral valve
A voiding cystourethrogram is a highly specific imaging test conducted to diagnose PUV.
what is the presentation of a baby that was born from oligohydramnios
POTTER syndromePulmonary hypoplasia, oligohydramnios (trigger),twisted face, twisted skin, extremities defects, and renal failure (in utero).
what is the presentation of severe iron deficiency anemia
cause pica (cravings for non-nutritious foods like ice, hair, and dirt) and trichotillomania.
what is the presentation of osteogenesis imperfecta outside of broken bones
common symptoms include blue sclera, dental imperfections, and hearing loss.
what is the presentation of Alport sydnrome
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.
what is the common presentation of capillary hemangioma
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.
what is the most common complication of a capillary hemangioma
ulceration
what does rheumatic heart disease do to the heart
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.
what should you think when you think chlamydia eye infections of the newborn
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.
what should you think when you think gonnorhea eye infections of the newborn
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.
what is the presentation of HUS
diarrhea, bleeding, anemia, increased BUN and creatinine, proteinuria. it can cause acute renal failure, but not acute tubular necrosis.
what is a known and dangerous complication of HUS
DIC
what are some common infections caused by morexella caraharis
sinusitis, bronchitis, otitis media, laryngitis.
what are the biological characteristics of morexella
aerobic, diplococcus, gram negative, oxidase positive, unable to metabolize maltose.
what is bladder exstrophy, what is the presentation, immediate managment and what is it associated with
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.
what is the presentation of minimal change disease and what is it treated with
most common cause of nephrotic syndrome in pediatric patients. It often presents after a viral illness and is treated with corticosteroids.
what does gestational diabetes put the baby at risk for
hypoglycemia, seiures, polycythemia, hypocalcemia, hypomagnesemia, cardiomegaly, renal vein thrombosis, prematurity, macrosomia, shoulder dystocia and intrauterine growth retardation.
what are mothers with gestational diabetes at risk for
Mothers are at risk for preeclampsia, gestational hypertension, polyhydramnios, and infection.
what is the treatment for cat scratch disease in an immunocompetent
observance and supportive.
what is the presentation of cat scratch fever
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
what is a serious consequence of cat scratch fever
bacillary angiomatosis. Immunocompromised patients may have much more extensive systemic disease including bacillary angiomatosis and peliosis.
what is the treatment of choice for acute otitis media
amoxicillin
what change in management for refractory acute otitis media
change from amoxicillin to amoxicillin/clavulanate
what are the trinucleotide repeat diseases
Huntington, fredrick ataxia, myotonic dystrophy, fragile X syndrome
what is the presentation of firebricks ataxia
most frequently presents in adolescence with scoliosis, neurological abnormalities, diabetes mellitus, and cardiomyopathy.
what is required for the diagnosis of croup
a cough
what is the most common cause of stridor in children
croup.
what is the presentation of acute epiglottitis
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.
what is hypospadias associated with
cryptorchidism and inguinal hernias.
Can a circumcision be performed on someone with hypospadias
No. this is a contraindication
what is the presentation of phenylketonuria
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.
what is one treatment for PKU
avoiding protein rich foods such as meats. because the patients are deficient in the enzyme that converts phenylalanine to tyrosine
what is the treatment of croup
oral or intramuscular dexamethasone
what is the most likely cause of death in a baby with Edward syndrome
central apnea
what are the most likely causes of acute otitis media
most commonly caused by Streptococcus pneumoniae, Moraxella catarrhalis, or Haemophilus influenzae (non-typeable strain)
what is the most common presentation of sickle cell anemia in young children
dactylitis
severe pain the hands and feet
how is the diagnosis of coanal atresia made
clinical suspcion, passing a nasal catheter and CT scan.
what causes strep throat
Streptococcal pharyngitis is caused by group A Streptococcus, which is gram-positive, beta-hemolytic, and bacitracin-sensitive. It is characterized by an exudative pharyngitis.
breast feeding jaundice is what and what are cause
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.
are papsmears necessary after HPV vaccinations
of course, because it doesnt cover all the genotypes.
what other cause of a lack of red reflex
leukocoria is caused by congenital cataract and retinoblastoma
what is the presentation of kallman syndrome
anosmia, hypogonadotrophic hypogonadism, failure to begin or complete puberty
what is the presentation of hand foot and mouth disease
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
what diseases affect the palms and soles
CaRS
Coxsackie A, Rickettsia/Rocky Mountain Spotted Fever, and Secondary Syphilis.
what bacteria is responsible for comeodomal acne
acne vulgaris
Acne vulgaris is most commonly associated with the Cutibacterium acnes (formerly Propionibacterium acnes).
what is the leading cause of neonatal heart blcok
neonatal lupus.
maternal antibodies can cross the placenta and cause neonatal lupus. the baby can even present with a rash
what does lactose intolerance do to the pH of stool
it reduces it. makes it acidic
what is the genetic association with Crigler-Najjar II
UGT1A1
what is the treatment for Crigler-Najjar II
phenobarbital this induces CYP450
what is the appropriate way to stop a nose bleed
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.
vesicles on the palms and soles with negative viral swab is likely what
scabies
what is the treatment for diabetic keto acidosis
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.
what does a high FSH indicate
primary ovarian failure
especially in the setting of primary amenorrhea
what is the testing for primary amenorrhea with high FSH
a genetic test should be performed for turners, vanishing testes syndrome, or absent testis determining factor
what is Liddle syndrome
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.
what is nectar americanus
this is the causal organism for cutaneous larva migrans
what is the causal organism for elephantitis
wuchereria bancrofti
what is the treatment for irregular menses in the first 1-2 years of menarche
reassurance, as there is a lot of variability during that time period for menstrual development.
what is the empiric treatment for bacterial meningitis in a baby under one month of age
ampicillin and cefotaxime
what does bone marrow look like during acute leukemia
In acute leukemias, blast forms predominate - accounting for at least 20% of the total cellularity of a bone marrow biopsy sample.
what is the presentation of mumps
Mumps is caused by viruses of the genus Paramyxoviridae and is characterized by conjunctivitis, parotitis, orchitis, and pancreatitis.
what is the presentation of orbital cellulitis
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
what is the treatment for orbital cellulitis
IV antibiotics
what is the presentation of duchenes muscular dystrophy
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.
Treatment for tinea capitis
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.
what is referring syndrome, what causes it and what does it look like
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
what is the presentation of familial dysautonomia
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.
what is a tocolytic example
Tocolytics (e.g. beta-2 agonists, calcium channel blockers) relax the uterus and are used in the treatment of preterm labor.
what is glanzmanns thrombasthenia
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.
what is highly associated with umbilical hernia
congenital hypothyroidism
where are the most common places for a Mongolian spot
buttocks, back, shoulders
what is the natural course of Mongolian spot
usually disappears in 3-5 years
what is the treatment for absence seizure
ethosuximide
where does the weber test localize
to the side affected by conductive hearing loss
where does the rinne test reveal for conductive hearing loss
bone conduction will be greater than air conduction on the affected side.
what type of hypersensitivity is poison ivy/oak
this is delayed type IV.
T cell mediated
what are some type IV hypersensitivity reactions
PPD, poison ivy, allograft reaction and graft vs host
what is the treatment for meconium aspiration syndrome
supplemental oxygen, ampicillin, and gentamicin.
how much higher is the rate of testicular cancer in someone with cryptorchidism
22X
is it possible to preserve fertility in someone with cryp[torchidism
yes. if surgery is performed before the age of one in unilateral, the fertility rate is close to 90%
what is the presentation of congenital hypothyroidism
hypotonia, lethargy, macroglossia, large fontanelles, and dry skin.
protuberant abdomen dry, brittle hair and low hairline
what is the diagnosis of a child with prolonged course of otitis media and focal neurologic deficit in the form of expressive aphasia
temporal lobe abscess until proven otherwise
what are the diagnostic criteria for kawasaki
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.
what is the treatment for a rapidly expanding hemangioma
propanolol
what is the presentation of Ehlers danlos in an infant
joint hyperflexibility, bruising/ecchymoses, cigarette paper skin
this is caused by collagen defect
transient erythroblastemia of childhood
this is a temporary normocytic anemia with low to normal reticulocyte count that occurs after a URI
what genetic diseases are associated with acute leukemia
NF1, fanconi anemia, li-freumeni, Klinefelter and down syndriome
what is the presentation of thrombotic thrombocytopenia
FAT RN
fever, anemia, thrombocytopenia, neurological (psychiatric as well), renal failure
what is physiologic jaundice
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.
is salicylic acid recommended for inflammatory acne
no.
what is used in the treatment of moderate acne
topical retinoids, benzoylperoxide, and an antibiotic (typically macrolide)
what is the presentation of the rash in toxic shock syndrome
diffuse erythematous rash that desquamates as the patient recovers
what is the presntation of toxic shock syndrome
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.
what is the presentation of 17-alpha-hydroxylase deficiency
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
what is the presentation of toxoplasmosis of the infant
classic triad of chorioretinitis, hydrocephalus, and intracranial calcifications. Other manifestations include intrauterine growth restriction, premature birth, jaundice, hepatosplenomegaly, rash, microcephaly, and seizures.
Congenital cytomegalovirus infection can cause
jaundice, hepatosplenomegaly, thrombocytopenia, microcephaly, chorioretinitis, and intracranial calcifications; however, the most common sequela is sensorineural deafness,
Congenital varicella syndrome classically presents with
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.
Infants with perinatal herpes simplex virus (HSV) infection are
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.
Congenital rubella infection classically presents with a
“blueberry muffin” rash, hepatosplenomegaly, and thrombocytopenia. Sensorineural deafness, cataracts, and cardiac malformations are also common.
how is low folate diagnosed
Folate deficiency can be diagnosed by elevated serum homocysteine.
how is low B12 diagnosed on labs
B12 deficiency manifests as elevated levels of both homocysteine and methylmalonic acid.
if someone has scabies who should be treated
the entire household because its highly contagious
How is scabies treated
permethrin
Fetal valproate syndrome can be characterized by
ventricular septal defect, cleft palate, facial anomalies, and (most concerning) spina bifida. Its potential for teratogenicity is why valproate is contraindicated in pregnancy.
what is the cause of neonatal hypoglycemia due to maternal diabetes
congenital hyperinsulinemia from developing in a glucose rash environment
what is the proper course for a neonate that has been exposed to chickenpox
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%
what is the prophylactic treatment for neonatal varicella
IVIG
what is the neonatal treatment for symptomatic varicella
acyclovir
what is the most complication of seasonal flu
acute otitis media
what are the most complications of seasonal flu
acute otitis media, pneumonia, febrile seizures,
what is the presentation of congenital rubella
of patent ductus arteriosus on echocardiography, cataracts, hearing loss, and microcephaly
what is the presentation of scaled skin syndrome
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.
what is the treatment for botulinum toxin exposure in a neonate
human immunoglobulin and antitoxin
what is selective IgA deficiency
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.
what is the treatment for serious jaundice
transfusion and phototherapy
what are the signs of bilirubin encephalopathy
high pitched cry, lethargy, hypotonia
what is the description of conjoined twins
mono amniotic, monochorionic
what combination of amniotic and chorionic cannot be seen and why
mono amniotic and dichorionic because the chorion develops first.
the possible combinations for all twin pregnancies are
monoamniotic and monochorionic, diamnionic and monochorionic, and diamniotic and dichorionic.
what is the presentation of hereditary fructose intolerance
Hypoglycemia results and can cause tremors, seizures, and diaphoresis.
what is the cause of hereditary fructose intolerance
aldolase B deficiency
Immunosuppression is an absolute contraindication for live vaccines such as
MMR, Varicella + Zoster, Sabin polio, Influenza, Rotavirus and Yellow Fever.
Loose anagen syndrome is
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.
Agenesis of the corpus callosum (ACC) is caused by the disruption to development of the brain between
the 3rd and 12th weeks of pregnancy.
possible causes include chromosomal errors, gene mutations, parental infections, prenatal toxic exposures, structural blockage and metabolic disorders.
Chronic granulomatous disease is
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.
the preferred treatment for moderate to severe cases of laryngotracheobronchitis, also known as croup is
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.
what are two lesser known tumors associated with NF2
ependymoma and meningioma
what happens if a patient has mononucleosis and they are given beta-lactam antibiotics
they can develop a hypersensitivity reaction and an intensely pruritic, morbillum rash on the extensor surfaces
what is the most common cause of congenital hypothyroid
thyroid dysgenesis
the most common form of thyroid dysgenesis is
ectopic thyroid;
the most common form of ectopic thyroid is
lingual thyroid.
what is the most likely brain bleed from shaken baby
subdural hematoma
what is group B streps name
agalactiae
Krabbe disease is
the combination of multinucleated globoid cells, optic atrophy, blindness, and motor delay. This condition is a sphingolipidosis disease caused by a deficiency of galactocerebrosidase.
what is the treatment for salmonella
supportive therapy with fluid replacement
what is a lesser known cause of pneumonia in cystic fibrosi
burkholderia cepacia
the most common cause of congenital non-spherocytic chronic hemolytic anemia is
pyruvate kinase deficiency
what is the course of pertussis
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.
Sturge-Weber syndrome (SWS) is
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.
what is the causal organism for impetigo
strep A infection which is pyogenesd
what is a complication of imetigop
post-strep glomerulonephritis
what is the presentation of Becker muscular dystrophy
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.
what is triple X syndrome
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.
what is the presentation of Edwards syndroime
IUGR, poly or oligo, clenched fists, rocker bottom feet
hypertrophic cardiomyopathy is associated with which murmur
a harsh systolic murmur. heard at the left sternal border which decreases in intensity when moving from an upright to a supine position
hypertrophic cardiomyopathy is what kind of inheritance
autosomal dominant
where can neurofibromas occur
anywhere, even in the artery
Odd parvovirus B19 presentation
lacy reticular rash, well-demarcated at the wrists and feet (papular-pruritic glove and socks syndrome), aplastic anemia.
what is papular-purpuric gloves and socks syndrome is caused by what
viremic highly contagious parvovirus B19
is a child infectious if they have slapped cheek rash and what causes it
parvovirus B19 and no, they are no longer effective
what is bloom syndrome
chromosome 15 DNA helicase mutation. rash in sun-exposed areas
Pathologic jaundice of the newborn is
jaundice which either during the first day of life, has total bilirubin >12, direct bilirubin >2, or shows rate or rise of >5/day.
Periorbital cellulitis is differentiated from orbital cellulitis by
a lack of vision changes and pain with eye movement.
Periorbital cellulitis can be treated with
oral antibiotics
orbital cellulitis is a blank that requires blank
an emergency intravenous antibiotics and/or surgery.
what is the alternative treatment for group A strep infection/scarlet fever
erythromycin is a macrolide used as back up
the most common bleeding disorder
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.
post-streptococcal glomerulonephritis is
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
Primary amenorrhea with a lack of uterus development and otherwise normal secondary sexual characteristics is concerning for
Mullerian agenesis (XX) and androgen insensitivity syndrome (XY); these are distinguished with serum testosterone tests and/or a karyotype.
Zellweger syndrome (ZS) is
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.
are turners patients infertile
yes
can turners syndrome patients have chidlren
by using a donor oocyte
what is the state of the ovaries in someone with turners
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.
what are the most common causes of cerebral palsy
hypoxia, trauma, infection
Tay-Sachs disease is
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.
how does congenital diaphragmatic hernia present
severe respiratory distress within the first 24 hours of life and is associated with lung hypoplasia
what can diabetes in the mother cause in the red blood cells of the baby
polycythemia
what are some treatments for GERD in the newborn
smaller and more frequent meals, thickening the formula with rice cereal, elevating the head to 20° to 30° after feeds.
what is a brush field spot and what is it associated with
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.
what are the two most common heart murmurs in turners syndrome
coarctation and bicuspid aortic valve
what is the presentation of hypovitaminosis D
decreased mineralization around the epiphyses as well as bow-legs with prominent forehead and bumpy ribs are clear indications
what is the treatment for testicular torsion.
immediate surgery and bilateral orchioplexy
what is the treatment for cradle cap and what is the medical name for it
mild shampoo and a topical antifungal
seborrheic dermatitis
what is the presentation of beckwith-weideman syndrome
macroglossia, abdominal wall defects, hypoglycemia due to hyperinsulinemia, films tumor
if Rocky Mountain spotted fever is on the differential what is the first step
empiric treatment with doxycycline because it is rapidly fatal
Crigler-Nijjar type 1 is what and what is the treatment
this is severe unconjugated bilirubinemia caused be a genetic defect.. liver transplant is required for survival and phototherapy is used while waiting
what are the causes of hand foot and mouth
Coxsackie A19 and Enterovirus 71, members of the Picornoviridae family.
what is the classic rash of rubella
begins on the face and spreads to the trunk
