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212 Cards in this Set
- Front
- Back
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Why is thiamine given in a glucose infusion to alcoholics with hypoglycemia? |
Glucose administration in the absence of thiamine could worsen Wernicke’s encephalopathy (cause further damage to mamillary bodies) |
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What are the symptoms of a lacunar stroke?
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Pure motor hemiparesis |
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What medications and interventions are used in the tx of cerebral palsy to alleviate contractures and improve function?
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Dantrolene – muscle relaxer
Baclofen – muscle relaxer Benzodiazepines Botox |
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What are the 2 most common primary brain tumors in adults?
What are the 3 most common primary brain tumors in kids? |
Adults “MGM Studios”: Metastasis, Glioblastoma, Meningioma, Schwannoma
Kids: Astrocytoma, Medulloblastoma, Ependymoma |
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What is the ACLS tx for ventricular fibrillation?
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CPR, Defibrillate at 360 joules, Epinephrine or vasopressin
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Which vasopressor matches the following statement?
Theoretically causes renal vasodilation |
Dopamine
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Which vasopressor matches the following statement?
High doses optimize the α-1 vasoconstriction |
Epinephrine |
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Which vasopressor matches the following statement?
ADH analogue |
Vasopressin
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Which vasopressor matches the following statement?
Best choice for anaphylactic shock |
Epinephrine
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Which vasopressor matches the following statement?
Best choice for septic shock |
Norepinephrine
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Which vasopressor matches the following statement?
Best choice for cardiogenic shock |
Dobutamine
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Which vasopressor matches the following statement?
Causes vasoconstriction but with bradycardia |
Phenylephrine
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What is the next step in the evaluation of penetrating injuries to the different zones of the neck?
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Zone 1 → CT angiogram (4-vessel arteriogram)
Zone 2 → Surgical exploration Zone 3 → CT angiogram, triple endoscopy |
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How can the flushing reaction of niacin be prevented?
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Aspirin, bedtime administration, long term use
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What EKG finding is seen in pts with Wolff-Parkinson-White syndrome? What causes WPW?
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EKG: delta wave prior to QRS complex
Cause: reentry thru accessory conduction pathway |
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How is the treatment of SVT due to WPW different from that of other causes of SVT?
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Amiodarone & Procainamide
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What is the most sensitive & specific lab test for the diagnosis of chronic pancreatitis?
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Low fecal elastase levels (more specific than amylase)
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What supplements should be given to women on anticonvulsants during pregnancy?
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Folate, Vit K+
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What is the next step in the management of an AGUS pap smear?
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Colposcopy & Endocervical curettage
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What are the abnormal fetal heart rates picked up by the fetal heart monitor?
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Note: sensitivity is only ~85% and specificity is poor → many infants with nonreassuring FHR are in good condition
Fetal tachycardia: FHR > 160bpm for >10min Fetal bradycardia: FHR < 110bpm for > 10 min Sinusoidal: baseline 120-180 bpm with oscillating amplitude of 5-15bpm, often due to fetal anemia Loss of variability: poor short-term or long-term variability, due to fetal sleep, CNS depression, or fetal acidosis; normal variability ranges from 6 – 25 bpm Early decels: begin with uterine contraction, due to pressure on the fetal head Variable decels: begin before, during, or after uterine contractions (variable onset) rapid fall in FHR often below 100bpm and rapid return to baseline, due to cord compression Late decels: begin after the uterine contraction, maximal after peak of contraction, and return to baseline after contraction complete; due to uteroplacental insufficiency/ fetal hypoxia |
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What is the differential diagnosis for fetal tachycardia?
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Maternal fever/ infection/ dehydration
Fetal anemia Fetal tachyarrhythmias (HR > 200) Fetal immaturity Chorioamnionitis Maternal thyrotoxicosis Drugs or medications (Terbutaline, atropine) Fetal hypoxia |
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What type of fetal surveillance strategy is typical for high-risk pregnancies?
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Biophysical profile or NST |
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What is considered a normal, reactive non-stress test? |
In 20 min, 2 episodes of 15 beats acceleration at least 15s long - nonreactive stress test needs a BPP |
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What are the first steps in the management of non-reassuring fetal heart tones during labor? |
Place maternal O2 + turn off Pitocin (remove cervidil) + turn mom to left side
Correct hyperstimulation if needed with terbutaline (Beta-2 agonist) |
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What is the usual physical cause of each of these types of decelerations?
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Early - vagal response to pressure on fetal head
Variable – cord compression Late – uteroplacental insufficiency, fetal hypoxia |
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One hour into the active stage of labor, a fetus’s heart tones become nonreassuring. What actions are taken immediately?
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Maternal O2
Turn off oxytocin Turn mother in LLD position |
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Which type of deceleration?
A check mark-shaped fetal heart tracing |
Late - uteroplacental insufficiency, fetal hypoxia |
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Which type of deceleration?
Onset either before, during, or after uterine contraction |
Variable – cord compression |
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Which type of deceleration?
Consistent dips in fetal heart tones when uterine contractions begin |
Early - vagal response to pressure on fetal head
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Which type of deceleration?
Occur after uterine contraction has begun |
Late – uteroplacental insufficiency, fetal hypoxia
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Which type of deceleration?
Unpredictable changes in fetal heart tone tracing |
Variable – cord compression
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What is the role of fetal pulse oximetry in labor & delivery?
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none
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What would be some contraindications to fetal scalp electrode placement?
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Breech presentation
< 36wks gestation Worry of maternal viral infection |
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HYQ: What defines prolonged latent phase and prolonged active phase of labor dystocia?
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Prolonged latent phase: does not progress from latent ot active phase for >20hours in nulliparous pts or >14 hrs in multiparous pts
Prolonged active phase: Active phase > 12 hrs or Nulliparous < 1.2 cm/hr dilation Multiparous < 1.5 cm/hr dilation |
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What type of contraction pattern is typically necessary for cervical dilation to occur?
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3 contractions in 10 minutes
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What are the 3 Ps that must be assessed in the event of labor dystocia?
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Power → contraction strength, duration, and frequency
Passenger → fetal weight, fetal lie, presentation, position Pelvis → adequacy of pelvis in shape and diameter |
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What is the definition of arrest of descent? In general, how is it managed?
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Arrest of descent occurs when the cervix does not continue to dilate during the active phase of >2 hrs in multips and >3hrs in primips
Management: Reassess the 3 Ps Placement of IUPC to better assess “power” (>200 MVU/10min) Augmentation with oxytocin to augment “power” C-section if power, passenger and passage are unable to be further augmented |
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What is the definition of uterine hyperstimulation? What adrenergic antagonist is particularly helpful in reversing uterine hyperstimulation?
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Uterine hyperstimulation is defined by one of the following:
>5 contractions over 10min with duration > 60secs significant fetal heart rate decelerations Terbutaline 0.25mg Sub-Q if often used as a tocolytic to stop uterine contractions |
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What defines prolonged latent phase of labor? Prolonged active phase?
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>20 hrs nulliparous
14 hrs in multiparous 12 hrs or <1.2cm per hour nulliparous < 1.5 cm/hr multiparous |
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By how much can an epidural lengthen stage 2 of labor?
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About 1 hour
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What is the 1st “P” that must be assessed in the event of labor dystocia? How is it assessed?
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Power – IUPC (intrauterine pressure catheter)
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What are some of the methods that can be used for induction of labor?
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Rupture of membrane
Oxytocin Other less common options |
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What are some indications for induction of labor? Contraindications?
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Indications:
Pre-eclampsia Diabetes mellitus Stalled stage of labor Chorioamnionitis Prolonged pregnancy IUGR, PROM Congenital defect Contraindications Prior uterine surgery Fetal lung immaturity Malpresentation Acute fetal distress Active maternal genital herpes Placenta previa |
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What is the definition for uterine hyperstimulation?
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>5 contraction in 10 min
contractions closer than 1 min apart |
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What are the management options in the case of a breech presentation?
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What are some of the contraindications to breastfeeding?
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What is the treatment or mastitis in a postpartum female?
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How is a clogged milk duct (galactocele) distinguished from mastitis?
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Fever, warmth & erythema over sizeable area, ↑ WBC ct, positive culture
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What type of oral contraceptive can be given to lactating women?
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Progesterone-only
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What is the treatment for a woman that does not wish to breastfeed postpartum?
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Tightly wrap breast, analgesia (NSAIDs), Ice packs
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What are the risk factors for uterine atony?
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Uterine atony risk factors include:
Uterine over-distention: multiple gestations, polyhydramnios, macrosomia Exhausted myometrium: prolonged labor, oxytocin stimulation ↓ ability to generate contractions: chorioamnionitis, use of Mag sulfate (ie in preeclampsia), general anesthesia, uterine fibroids prior history: multiparity, prior history fo postpartum hemorrhage |
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What are the treatment options for uterine atony/ postpartum hemorrhage?
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Uterine massage
Oxytocin 10 units IM x1 Methergine (methylergonovine) 0.2 mg IM (ergot agent that is contraindicated if HTN) Hemabate (PGF2-α) 0.25mg IM of intra-uterine (contraindicated if asthma) Surgical options: uterine artery ligation, internal iliac artery ligation, selective arterial embolization, or hysterectomy |
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What are the characteristic features of postpartum endometritis?
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What is the treatment for postpartum endometritis?
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What are the 3 kinds of breech presentation? Which is most common?
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Frank (“Feet to Face Frank”) – most common
Complete (thighs & knees are flexed) Incomplete (one or both legs are distended) |
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When is external cephalic version offered to women?
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After 36 weeks, fetus in breech position
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What are the indications for a vertical incision vs low transverse incision for a caesarean section?
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Transverse lie
Adhesions or fibroids Hysterectomy planned Cervical cancer Postmortem delivery |
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What are some indications for caesarean section?
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Maternal eclampsia
Prior uterine surgery Cardiac disease Birth canal obstruction Cervical cancer Maternal death Active genital herpes Acute fetal distress Malpresentation Cord prolapse Macrosomia Failed labor progression Placental previa Abruptio placenta Cephalopelvic disproportion |
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What potential adverse events can occur during a VBAC?
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Uterine rupture (1/100)
Catastrophic event (1/1000) |
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Why is the baby held at the same level as the umbilical cord and placenta when the cord is cut?
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Prevent rush of blood
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How should patients who have hepatitis B or C who wish to breastfeed be counseled? HIV?
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Hep B/C: low chances of transmission
HIV: no breastfeeding! |
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A woman that is postpartum day 2, s/p C-section develops a temperature of 101°F, uterine tenderness, and foul lochia. Her urine urinalysis is normal & her incision is clean, dry and intact. What does this patient likely have and what is the treatment?
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Dx: post-partum endometritis
Tx: Clindamycin + ampicillin + gentamicin Ceftriaxone + clindamycin Ampicillin/sulbactam (Unasyn) + doxycycline Cefoxitin + doxycycline |
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What is the definition of postpartum hemorrhage? What is the most common cause?
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500mL in 24 hrs following vaginal delivery
>1 L following C-section most common cause: uterine atony |
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HYQ: How should a breech presentation be managed after 36 weeks gestation?
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Offer external cephalic breech
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What is the treatment for a woman that does not wish to breastfeed postpartum?
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1st line: Icepacks, tight bras, avoid stimulation, analgesia
2nd line: Oral contraceptives 3rd line: Bromocriptine |
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HYQ: A postpartum female presents with pain and tenderness of the breast that is limited to only one region. There is no redness or warmth. What is the most likely diagnosis?
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Galactocele (clogged milk duct)
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HYQ: When can OCPs be initiated in postpartum patients that do not intend to breastfeed?
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Wait at least 6 weeks postpartum
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HYQ: Within the immediate postpartum period a patient develops sudden onset of hypoxia, cardiogenic shock, and DIC- what etiology is at the top of your differential?
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Amniotic fluid embolism |
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HYQ: A patient loses more than 500cc of blood postpartum and now has anemia. Attempts at breastfeeding have been unsuccessful, as it appears she is unable to generate any milk. What diagnosis do you suspect?
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Sheehan’s syndrome
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What medications can be used to control postpartum hemorrhage?
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1st line: Uterine massage
Then: Oxytocin Other less common options |
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What is the definition of arrest of descent?
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(With epidural) |
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What are the first steps in the management of uterine hyperstimulation (or non-reassuring fetal heart tones)?
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Oxygen |
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When is a normal child’s weight regained, doubled, tripled, and quadrupled in terms of their birth weight?
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Regain weight in 2 weeks |
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Define failure to thrive (FTT)
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<5% on a growth chart |
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How do you distinguish between Type I and Type 2 diabetes in a child?
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Type 1 – skinny, anti-islet antibodies
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When does a normal child’s height increase by 50%, double, and triple?
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Height ↑ by 50% by age 1
Height doubled by age 4 Height tripled by age 13 |
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How many blocks can a child put in a tower at these ages: 12 months, 18months, 2 yrs, 3yrs?
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12 months → 2 blocks
18 months → 4 blocks 2 years → 6 blocks 3 years → 9 blocks |
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An infant that has any remaining primitive reflexes after what age needs a work-up for CNS pathology?
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6 months of age
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What is the first solid food parents should give their child?
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Iron-fortified cereal
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Why should cow’s milk not be given before 1 year of age?
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Risk of allergy
Hemorrhaging in gut Iron deficiency anemia |
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Car Seats:
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< 1 year and <20 lbs → infant in back seat, facing backwards |
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How many calories are present in an ounce of breast milk? How many calories are present in an ounce of formula?
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20 kilocalories/ounce in both breast milk and formula
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What are the caloric needs for an infant younger than 6 mos?
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100-120 calories/kg/day
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What work-up should be performed on a newborn with a single umbilical artery?
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Occurs in ~0.5% of births and 20-30% of these infants have major structural anomalies
Obtain renal sonagram as 7% will have clinically significant renal symptomatic anomalies |
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What are the most common problems that arise in premature infants?
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Respiratory distress syndrome, hypoglycemia, persistent PDA, infection/sepsis, retinopathy of prematurity, intraventricular hemorrhage, necrotizing enterocolitis
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What is the difference between caput succedaneum and cephalohematoma?
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Caput → diffuse swelling or edema of the scalp, edema crosses suture lines, resolves within a few days
Cephalohematoma → subperiosteal hemorrhage, does NOT cross suture lines, resolves in weeks to months |
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What is the next step in the management of a newborn female with bloody vaginal discharge in the first week of life?
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Nothing (withdrawal from hormones)
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is this benign?
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Yes - Cutis marmorata: spider webbing/ marbling of the skin. Non-concerning |
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Is this benign?
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Erythema toxicum neonatorum: 2-3 mm, yellow pustule with red base (similar appearance to white-head) arising in the first 24-72 hours, microscopic examination of the pustular contents (not necessary for diagnosis) reveals numerous eosinophils, usually gone by 3 weeks, tell parents to leave alone
Erythema toxicum neonatorum can result in a “flea-bitten” appearance. |
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what is this?
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Transient neonatal pustular melanosis: superficial pustules overlying hyperpigmented macules. Tell parents to leave alone
Transient neonatal pustular melanosis is a vesiculopustular rash that occurs in 5 percent of black newborns, but in less than 1 percent of white newborns.6,9 In contrast with erythema toxicum neonatorum, the lesions of transient neonatal pustular melanosis lack surrounding erythema. In addition, these lesions rupture easily, leaving a collarette of scale and a pigmented macule that fades over three to four weeks. All areas of the body may be affected, including palms and soles. |
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what is this?
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Neonatal acne (acne neonatorum): seen in 20% of infants, due to maternal hormone stimulation of sebaceous glands, usual age of onset is 3 weeks old. There is no increased risk of acne in adolescence. Mild lesions should be left alone and will resolve in 4 months. Severe inflammation can be managed with benzoyl peroxide or topical retinoids |
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What is this?
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Milia (Miliaria): due to accumulation of sweat beneath eccrine sweat ducts that are obstructed by keratin at the stratum corneum usually develops in 1st week after birth, a/w excess warmth (incubator, excess clothes, fever). No treatment is needed except possibly to reduce sweating with loose clothing and cool baths
Miliaria crystallina is caused by superficial eccrine duct closure. It consists of 1- to 2-mm vesicles without surrounding erythema, most commonly on the head, neck, and trunk (Figure 5). Each vesicle evolves, with rupture followed by desquamation, and may persist for hours to days. |
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What is this?
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Harlequin color change: intense reddening of gravity dependent side and blanching of the nondependent side with a line of demarcation between the two, lasts a few sec-min, affects 10% of newborns (more common in newborns), most common in the first few days of life, may be due to immaturity of autonomic innervation to skin vessels. Completely benign and will resolve in days- 3 weeks.
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What is this?
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Macular stains (Stork bites): permanent vascular malformations most commonly occurring on the nape of the neck, but also upper eyelids and middle of forehead. Benign but persist throughout life |
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What is this?
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Mongolian spot: bluish discoloration over buttocks and base of spine, probably present on at least one of the parents. Benign and will usually fade in 1-2 years. Document to avoid later confusion with bruises |
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What is this? |
Infantile Acne: different than neonatal acne, onset usually at 3-4 months of age, yellow papules around nose & cheeks, usually clears by age one but may persist until age 3. Severe inflammation can be managed with benzoyl peroxide or topical retinoids |
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Who under the age of 11-12 should receive an MCV4 meningococcal vaccine? |
Moving to endemic area
Children > age 2 with functional true asplenia |
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When can a child switch to a front-facing car seat? A booster seat in the back seat? |
Forward facing → > 2 years
Booster seat → until 4 ft 9 in & btw 8-12 years |
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How many kilocalories are in an ounce of breast milk? Formula?
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20 kcal/ounce
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Cephalohematoma increases the likelihood of what?
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Jaundice
Note: more common with vacuum-assisted deliveries |
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A 2-day old baby boy presents with 2-3mm yellow pustules with red bases. What are these likely to be and what is the prognosis? |
Erythema toxicum neonatorum
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Why is it important to document Mongolian spots?
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Prevent false accusations of abuse
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What are some risk factors for SIDS?
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2-3 months old |
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What medications can be used to treat thrush in an infant?
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Nystatin oral suspension - topical can be used for diaper rash |
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What are the risk factors for Sudden Infant Death Syndrome (SIDS)? |
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When would you expect the anterior fontanelle to close in a child? What would you suspect if it did not close in the expected time frame? |
- Closed in 96% by 24 months |
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What are the signs of severe dehydration in a child?
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- Not until moderate dehydration that urine output slows - severely dehydrate children look lethargic |
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What are the clinical features of measles infection (rubeola)?
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Prodrome for 2-3 days: fever (high 104), malaise, anorexia, and 3 “Cs” (Cough, Coryza, Conjunctivitis) |
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What is the treatment for measles?
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Supportive therapy (antipyretics, fluids) |
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What are the classic features of rubella virus (German measles)?
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Low grade fever, lymphadenopathy, and rash
Erythematous, tender maculopapular rash that starts at the face then generalizes
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What are the characteristic features of Coxsackie hand, foot, and mouth disease?
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Constitutional fever & anorexia |
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What are the signs and symptoms or scarlet fever caused by Streptococcus pyogenes?
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Rash that is coarse (“sandpaper-like”), erythematous and blanching (“sunburn-like”)
Penicillin V DOC for treatment |
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What are the characteristic symptoms of roseola infantum (HHV-6)?
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Sudden, high fever (exceeding 102°F) for 3-4 days
Child has no other signs of infection and often acts/plays normally Rash that appears when fever dissipates and starts on the trunk then spreads over entire body & lasts 24 hours Other common findings: erythematous papules on soft palate & uvula, mild cervical LAD, edematous eyelids, bulging anterior fontanel in infants Commonly misdiagnosed as acute otitis media and subsequent antibiotic allergy! |
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What is the treatment for roseola infantum?
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Antipyretics as needed
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What is the differential diagnosis for cervical lymphadenopathy in a child?
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What is PFAPA syndrome?
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Benign 4-5 day syndrome consisting of Periodic Fever, Aphthous ulcers, Pharyngitits, and Adenitis |
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What are the classic symptoms of pertussis? |
Catarrhal stage (1-14 days): mild URI symptoms, most contagious
Paroxysmal stage (14-30): cough with inspiratory whoop that is worse at night & often with post-tussive emesis and exhaustion
Even though bacterial get labs with lymphocyte predominate lymphocytosis |
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What is the treatment for pertussis? |
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What additional workup, if any, is needed in a child diagnosed with a UTI? |
Voiding cystourethrogram (VCUG) and Renal U/S if: |
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What is the number one killer of adolescents and why?
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Accidents due to ↑ risk taking
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In addition to MCV4, what other vaccines should asplenic pediatric patients >2 years receive?
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HIB & pneumococcal
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What are the 3 C’s of the prodrome of rubeola? |
Coryza, Cough, Conjunctivitis |
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What are some causes of desquamation of the hands & feet?
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Scarlet fever |
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How long is the incubation period for pertussis? What is the treatment?
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Incubation: 7-10 days |
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Which viral infection is characterized by sudden high fevers for 3-4 days but is otherwise asymptomatic? A rash will often appear when the fever dissipates |
Roseola Infantum (HHV 6) - rash usually resides in 24 hours |
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Intense reddening of gravity dependent side and blanching of the non-dependent side with a line of demarcation between the two, lasts a few sec-min
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Harlequin Color Change |
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Due to accumulation of sweat beneath eccrine sweat ducts that are obstructed by keratin at the stratum corneum
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Milia
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HYQ: If a patient with measles required treatment with medication, what medication would you use?
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Vitamin A
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What is the treatment for roseola infantum?
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Generally no treatment except antipyretics |
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What are some common causes of delayed closure of the anterior fontanelle?
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Rickets |
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When do children first exhibit stranger anxiety?
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6 – 9 months
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When is gender identity typically formed?
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2 – 3 years
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When can children begin to eat solid foods?
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6 months |
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When can children drink cow’s milk?
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1 year
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What interventions have been shown to ↓ incidence of SIDS?
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Back to bed
Pacifier Fan on in room No smoking in house No pillows/ toys in bed |
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How many total doses of the DTaP vaccine should a 6yo have received?
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5 doses
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At what age is the meningococcal vaccine indicated? |
11 years |
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How would you expect weight to increase in the first 2yrs? |
Double newborn weight – 4 mos |
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Bruton’s Agammaglobulinemia
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X-linked (Boys) |
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Thymic aplasia (DiGeorge Syndrome) |
3rd & 4th brachial pouches fail to develop |
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Severe Combined ImmunoDeficiency (SCID)
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Bubble Boys - Lack B and T cells Defect in early stem cell differentiation |
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Chronic mucocutaneous candidiasis
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T-cell dysfunction vs C. albicans |
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Wiskott-Aldrich syndrome: “WAITER” |
WAITER Wiskott-Aldrich |
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(A)taxia-Telangiectasia
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Ig(A) deficiency |
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Selective Immunoglobulin Deficiencies
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IgA deficiency is most common |
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What is the half-life of the IgG antibodies transferred from mother to infant? |
28 days
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What is the presentation triad for SCID?
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Severe recurrent infections
Chronic diarrhea Failure to thrive (FTT) |
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What are the clinical features of Wiskott-Aldrich syndrome?
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“WAITER” |
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What is the management of chronic granulomatous disease?
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Prophylactic TMP-SMX (Bactrim), Interferon-γ
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If a female child is in the 80th percentile for height & the 25th percentile for head circumference, what chromosomal abnormality should you suspect?
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Turner Syndrome (XO) |
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What is the most common malformation of the head & neck?
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Unilateral cleft lip (multifactorial causes) |
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What features are characteristic of fetal alcohol syndrome?
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Facial features: |
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What are the differences in presentation btw branchial cleft cyst and thyroglossal duct cyst?
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Brachial cleft: lateral neck |
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What are the common possible presenting features of tuberous sclerosis?
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Distinctive brown, fibrous plaque on the forehead seen in infancy - cardiac rhadomyosarcoma, astrocytoma |
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Lactic acidosis, hyperlipidemia, hyperuricemia (gout)
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Type I
(Von Gierkes Disease) |
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Glycogen Storage Disease Mnemonic |
if you have Very Poor Carb metabolism d/n eat that Hersheys - Type 1: von Gierke's - Type 2: Pompe's - Type 3: Cori's - Type 4: McArdles |
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Diaphragm weakness → respiratory failure
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Type II - deficiency in lysosomal alpha 1,4 glucosidase - cardiomegaly |
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↑ glycogen in liver, severe fasting hypOglycemia
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Type I deficiency in glucose-6-phosphate |
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Hepatomegaly, hypOglycemia, hyperlipidemia (normal kidneys, lactate, uric acid) |
Type III |
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Painful muscle cramps, myoglobinuria with strenuous exercise
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Type V |
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Severe hepatosplenomegaly, enlarged kidneys
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Type I
(Von Gierkes Disease) |
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What malignancy is a/w Down syndome?
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Acute lymphocytic leukemia (ALL) – “we ALL fall DOWN” |
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What GI complications are a/w Down syndrome?
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Duodenal atresia |
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What is WAGR syndrome? |
Wilm’s tumor
Aniridia Genital abnormalities Retardation |
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What is the most common cause of congenital mental retardation in men? |
Fragile X Syndrome
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A child presents with short palpebral fissures, a thin upper lip, smooth filtrum, and a flattened midface. He is below the 10th percentile for height & weight and his IQ is 65. What is the cause of his abnormalities? What could have been done to prevent them?
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Dx: Fetal alcohol syndrome |
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Congenital heart defect + low calcium + recurrent infections
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DiGeorge Syndrome
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Chronic mucocutaneous candidiasis + chronic diarrhea + FTT
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SCID
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Thrombocytopenia + eczema + recurrent infections
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Wiskott-Aldrich
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Poor smooth pursuit of eyes + elevated AFP after 8 months
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Ataxia Telangiectasia |
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Partial albinism + recurrent URIs + neurologic disorders
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Chédiak- Higashi Disease
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Cleft lip/palate, life expectancy < 1 yr, polydactyly
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Trisomy 13 - Patau |
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High-pitched cat-like cry
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Cri du chat 15q 11-13 deletion |
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Elfin facial features, cardiac defects |
William Syndrome (chrom 7 deletion) |
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Tall, thin male with gynecomastia and testicular atrophy
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Klinefelter Syndrome |
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Obesity & overeating
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Prader Willi |
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Micrognathia, life expectancy < 1 yr, rocker-bottom feet
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Trisomy 18
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Happy mood, inappropriate laughter, ataxic gait
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Angelman syndrome
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Large ears, MR, macroorchidism
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Fragile X (x linked dominant with anticipation) |
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MR, Simian crease, GI & Cardiac defects
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Trisomy 21
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Short stature, infertility, coarctation of aorta
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Turner Syndrome (XO)
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When do infections typically begin in children with immune disorders?
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B cell disorders - around 6 months of life T cell disorders 1-3 months with viral, fungal or intercellular bacterial infections that persist |
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What are the current screening recommendations for breast cancer in average risk women? |
- Ages 40-49: Screening mammogram q 1-2 yrs +/- clinical breast exam |
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What is the USPSTF recommendation for hypertension screening? |
Every 2 years in normotensive pts, starting at age 18
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What is the USPSTF recommendation for cholesterol screening in pts without CAD risk factors?
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Start at age 35 in men - repeat every 5 years - screen earlier if >20 with CAD risk factors |
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What specific interventions are helpful in smoking cessation?
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How often should a normotensive pt get their BP checked?
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Every 2 years starting at age 18 years
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When should you start screening for high cholesterol in otherwise healthy patients?
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Men: after age 35
Women: after age 45 |
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Which medication for smoking cessation carries a black box warning about its side effect of suicidality?
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Varencicline (Chantix) - 30-44% success rate
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What smoking cessation method doubles the quit rate? |
Nicotine replacement therapy |
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What symptoms of vitamin deficiency do you get if you haven’t have enough folate? Vit A? VIt D? E? B3?
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Folate: |
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What vitamin can be used to treat psoriasis?
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Vit D analogs can also use Retinoids (vit A) derivatives |
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What vitamin can be used to prevent deficiency with isoniazid?
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Vit B6 |
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What vitamin can be used to elevate HDL & lower LDL?
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Vit B3 (niacin)
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Which vitamin deficiency:
↑ RBC fragility |
Vit E |
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Which vitamin deficiency:
Dermatitis, cheilosis, glossitis |
Vitamin B2 (riboflavin) |
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Which vitamin deficiency:
Peripheral neuropathy, angular cheilosis, glossitis |
B12 |
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Which vitamin deficiency:
Hemorrhagic disease |
Vit K
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Which vitamin deficiency:
Neural tube defects |
Folic Acid
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Which vitamin deficiency:
Dermatitis, Diarrhea, Dementia |
B3 (niacin) - pellagra |
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Which vitamin deficiency:
Megaloblastic anemia |
Folate/ B12 |
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Which vitamin deficiency:
Pernicious anemia |
B12
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Which vitamin deficiency:
Bitot’s spots, keratomalacia, xerophthalmia |
Vit A
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Which vitamin deficiency:
Osteomalacia, Rickets |
Vit D |
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Which vitamin:
Can be used to treat acne & psoriasis |
Vit A |
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Which vitamin:
Involved in the hydroxylation of prolyl residues |
Vit C
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Which vitamin:
Requires intrinsic factor for absorption |
B12 (Cobalamine) - absorbed in the ileum - from meat, poultry, eggs, dairy products |
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Which vitamin:
Deficiency may result from kidney disease |
Vit D
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Which vitamin:
Given prophylactically to newborns |
Vit K |
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Which vitamin: |
B3 (niacin)
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Which vitamin:
Deficiency can be caused by isoniazid use |
B6 (pyridoxine)
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Which vitamin: |
B12 |
