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Terms in this set (113)
In Rickets which type has each of the following:
- low 25 hydroxyvitamin D
- low 1,25 dihydroxyvitamin D
- high 1,25 dihydroxyvitamin D
Low 25 = Nutritional aka "Vit d Deficient Rickets"
Low 1,25 = renal aka "Vit D Dependent Type 1 Rickets"
High 1,25 = end oragan resistance aka "Vit D Dependent
Type 2 Rickets" aka "Hereditary Vit D resistant rickets"
Which RTA can lead to rickets?
Type 1 - Distal RTA
Common metabolic status with pyloric stenosis?
Hypochloremic metabolic alkalosis with severe hypokalemia. Hyponatremia seen too. Elevated Indirect Bili can occur as well.
Combination of steatorrhea and acanthosis with later on retinal damage and neurological sequelae?
Abetalipoproteinemia - Rare/AR multiple vitamin deficiencies causing the symptoms that results from the inability to make lipoproteins.
Dystronic movements of the head and neck along with GER?
MOA of zofran
serotonin receptor antagonist
How do you diagnoze zollinger-ellison syndrome?
Elevated fasting gastrin level (since it is due to a gastrin secreting tumor).
What syndrome presents with diarrhea due to pancreatic insufficiency, bone marrow suppression with lack of WBCs, often anemia and thrombocytopenia too, skeletal abnormalities, and increased risk of malignancies (MDS, Aplastic Anemia, AML)?
Shwachman Diamond Syndrome
What presents with extra teeth and polyps in the small and large intestines that are pre-cancerous?
Gardner's Syndrome - treatment is surgical
What does the presence of HBeAg confer in Hepatitis B infection?
High rate of infectivity due to its presence correlating with a high rate of replication. E = Evil.
Hepatitis D (HDV) requires the presence of what to provide its outer coat and replicate to cause infection?
In pulsus paradoxus the difference in blood pressure during inspiration and expiration should not be greater than ___.
> 20 = pulmonary or cardiac problems.
Describe the anatomy in TAPVR and the two subtypes.
none of the four veins that drain blood from the lungs to the heart are connected to the left atrium .
Subtype 1: the veins course into the abdomen passing through the diaphragm which squeezes/narrows them. Subtype 2: No obstruction, they don't go to the abdomen.
Cardiac Catheter Readings: The normal 02 sats on the right side are close to ___ and on the left side are close to ____.
Right = 70
Left = 100
Boot shaped heart =
TOF - tetralogyof fallot - usu presents at 3-5 months, single second heart sound.
Egg shaped heart =
Transposition of the great vessels - single second heart sound. Increased pulmonary vascularity (unlike TOF)
Recurrent syncope, particullarly with prolonged standing is due to _____.
What is the Diagnosis:
Solitary bone lesion, often in the skull
lytic lesions in the skull
Langerhans cell histiocytosis - treat with surgery to remove the single lesion, steroids, or chemo
What childhood tumor presents with opsoclonus-myoclonus and sometimes horner syndrome?
Neuroblastomas - excellent prognosis if < 1y/o, if older it is poor.
Dx by increased urine VMA and HMA
Horner's is due to mediastinal tumors that compress the recurrent laryngeal nerve.
With neuroblastomas, what lab test can be used for prognosis?
n-myc amplication: If amplified it is terrible, if not it is good.
If a parent has 2 eyes with retinoblastoma, there is a ___ chance of a child has having it. If a parent or a sibling has 1 eye involvement there is a ____ chance of the child havingit.
2 = 1/2 = 50%
1= 1/20 = 5%
What must you never do in the maangement of someone with a suspected mediastinal mass that needs oxygenation?
Never intubate because the airway compression in BELOW the vocal cords and once the patient is anesthetized there will be no way to maintain oxygenation and ventilation.
A kid with microcytic anemia (MCV < 70) and normal iron studies likely has _____ or _____ as the cause.
Thalassemia or Lead
- other microcytic causes are iron def & chronic illness.
Low hemoglobin A1 and elevated Hemoglobin A2 and hemoglobin F on electrophoresis is ______.
What blood disorder leads to "hair on end" on a skull film from extramedullary hematopoiesis?
Thalassemia Major aka "Cooley's anemia"
Ringerd sideroblasts are seen with what two conditions?
Sideroblastic Anemia (rare)
These are immature rbcs with iron loaded mitochondria surrounding the nucleus.
What anemia is associated with goat's milk consumption and why?
Macrocytic anemia due to folate deficiency. NOT B12
What heminoglobinopathy has heinz bodies associated with it?
G6PD deficiency - small purple granules in rbcs that occur die to damage to the hemoglobin molecule from oxidative stress. FYI: x-linked. 2 types: A = black males, usu w/stressor only. B = mediterranean populations and chronic w/acute. Can't test during crisis b/c levels are higher with retics so will get a false negative.
What hemoglobinopathy is due to a spectrin deficiency or mutation?
How do you diagnose spherocytosis?
Osmotic fragility test. Also note increased MCHC, hyperchromia.
What hemoglobinopathy presents with anemia, jaundice, splenomegaly, and a functional right shift in the oxygen binding curve leading to increased exercise tolerance?
Pyruvate Kinase Deficiency - cells become depleted of lactate and ATP and there is a buildup of DPG.
What is the diagnosis:
Abnormal skin pigment, short, renal abnorms, absent thumb macrocytic anemia, elevated fetal hemoglobin, often pancytopenia.
Fanconi's anemia - autosomal recessive.
What is the diagnosis:
Arrest in maturation of RBC line only, thumb abnorms, urogenital defects,or craniofacial problems in a kid with severe anemia.
What is the diagnosis:
Abnormal WBCs (lysosomal granules) and abnormal chemotaxis. Bruise a lot, get infections of skin and lungs, and have oculocutaneous albinsim. Diagnosed with giant granules in the neutrophils on a blood smear.
Chediak-Higashi Syndrome - need BM transplant or usually die before age 10. Pale, blonde, blue eyed kids.
What is a common cause of infection in patients with cyclic neutropenia? (specific species)
Kids with cyclic neuropenia have oral lesions and infections during the week out of the month they are neutropenic. Kids with chronic benign neutropenia are consistently neutropenic but don't usually get theinfections. Both respond to G-CSF.
What AR disorder results in the arrest of development of neutrophils leading to severe infections.
Kostmann Syndrome or Kostman Agranulocytosis
What syndrome includes pancytopenia (esp neutropenia) with recurrent infections, short stature, steatorrhea and other signs of pancreatic exocrine insufficiency, and skeletal abnormalities such as syndactyly or clinodactyly.
Shwachman-Diamond Syndrome - pancyopenia unlike Diamond-Blackfan syndrome which has purely RBC maturation arrest (along with thumb and urogenital abnorms).
What x-linked recessive immunodeficiency presents with bad diaper rashes, bruising, and ear infections/pneumonia. Due to eczema, thrombocytopenia (See small platelets on a smear) and decreased IgM with increased IgA and IgE.
What is Kasabach-Merritt Syndrome?
A large hemangioma that causes thrombocytopenia and sets you up for DIC. May need transfusions.
What is TAR syndrome?
thrombocytopenia Absent Radius - have high WBC counts
(remember normal thumb - missing radius on forearm x-ray)
In Hemophilia and VonWillebrand's disease - how are they inherited and are the PT/PTT high or low?
Hemophilia - x-linked recessive
Von Willebrand's - Autosomal Dominant
PT in noraml and PTT is elevated in both
If a patient has heamturia - get a rand urine:creatinine - if it is > 0.25 then you get a 24 hour urinary calcium. However if negative then what should you do?
Get an ultrasound to rule out structural abnorms (UPJ) Urteropelvic junction.
X-linkedDominant disorder with hematuria, bilateral sensorineural hearing loss, ocular defects, and ultimate renal failure.
What is the clinical picture with nephronophthisis? (juvenile-onset medullary cystic disease)
Short, polyuria, polydipsia, hyposthenuria, short, eye problems including retinitis pigmentosa, and andemia.
Remember to send them to eye doctors
AR, Different than polycystic kidney disease
Which 3 causes of nephritic syndrome present with low complement levels?
What cardiac defect is associated with William's syndrome?
What 4 syndromes are associated with hypospadias?
Silver Russell Syndrome (Russsell Silver)
Laurence-Moon Biedl Syndrome
Beckwith Wiedemann Syndrome
What is the difference between condyloma lata and condyloma acuminata?
Lata = Flatter - due to syphillis
Acuminata = more clustered - due to HPV
In Wilson's disease are the following high, low, or normal:
Ceruplasmin = low (used up taking copper to tissue)
serum copper = low (b/c most is deposited in tissue)
urine copper = high
Abnormal blood values, ataxic gait, oculocutanous lesions, decreased immunoglobulins, increased chance of malignancy.
Cranial bruit with hydrocephalus and congestive heart failure is likely due to ____.
Vein of Galen Malformation
Clumsy starting in late childhood, loss of proprioception, elevated plantar arch, abscence of lower extremity deep tendon reflexes, diabetes, and cardiomyopathy leading to CHF.
Chorea, hypotonia, and emotional lability that often doesn't present until age 35.
Huntingon Chorea - 10% can get it as juvenilles
What genetic testing can you do for Muscular Dystrophy?
Xp21 gene testing, diagnosis requires a muscle biopsy. CPK is elevated at all times.
FYI: in 1/3 of cases mother is not a carrier despite it being x-linked recessive. Asymptomatic carriers will have elevated CPK levels.
Striated and smooth muscle dystrophy with involvement of skeletal muscle, heart and GI tract. Inherited AD and often with description of delated relaxation after contraction such as hand shaking. Muslce wasting is distal. CPK can be normal.
Myotonic Muscular Dystrophy
Infant with hypotonia, poor feeding, and TONGUE FASICULATIONS.
SMA type 1 = Werding-Hoffmann disease - degeneration of anterior horn cells.
not botulism b/c it has tongue fasciulations as a clue
What seizure type has 3 per second spike and wave on EEG?
Absence seizures - also induced with hypeventilating
which AED medication is associated with Steven Johnson's syndrome?
What seizure type is associated with hypsarrhythmia on EEG?
Infantile spasms (West Syndrome) - associated with tuberous sclerosis. Prgnosis depends on developmental status before spasms - if there was developmental delay before than the prognosis is poor.
What are benign rolandic seizures?
AJA benign epilepsy of childhood - MC cause in kids they are self-limited involving the face and some sensory involvement - usu a side of the tongue. They occur while a kid is sleeping. AD in nature. Some don't treat - some do with carbamzepine.
What is the difference between the prognosis and presentation of Types 1,2,&3? What is the differnce betwen A & B?
1 = blue sclerae, fracture start in preschool, hearing loss, Autosomal Dominant
2 = rarely live postnatal, fractures at birth, new mutation or mosaicism
3 = progressive deforming type, bone fractures are progressive, gray sclare, big head, short
A = Good Teeth B = Bad teeth "dentinogenesis imperfecta"
There is also a type 4 which is like type one without blue sclerae
What is Klippel-Feil Syndrome?
Congenital torticollis with fusion of the cervical vertebrae, short neck, low occipital hair line, scoliosis, spina bifida, renal problems, sprengel deformity, & deafness.
What is scheuermann disease?
Fixed kyphosis, bad posture, and back pain that presents around teenage years. Treat with NSAIDs and PT.
What is Caffey Disease?
Infantile cortical hyperostosis that typically occurs in the first 6 months and is often confused for child abuse (however in abuse the periosteum would be involved). The prominent feature is swelling of the bone shafts only in cortical bone.
What three syndromes have little or no radius?
TAR (thrombocytopenia/absent radius)
Fanconi's anemia (thumb and radius)
VATER (R = radius)
What two diagnoses are associated with high arches (Pes Cavus)?
Hurler's Syndrome and Friedreich ataxia
With Salter Harris Fractures - when do you need surgical reduction (what Type)?
Type 1 = cast 2-3 weeks
Type 2 = cast 3-6 weeks
Type 3 = OPEN REDCTION MAY be necessary
Type 4 = OR to avoid growthdisruption
Type 5 = crush injury - poor prognosis
What two fractures can you diagnose even with normal x-rays if there is pain in the appropriate regions?
Snuff Box Pain = Scaphoid Bone Fracture
Salter Harris Type 1 fractures with tenderness at growth plate as only sign.
Is a posterior or anterior fat pad on an elbow x-ray a sign of fracture?
Posterior = fluid collection from fracture
Anterior = normal finding
A newborn with a rash that presents as vesicles that turn into rough bumps and heal with hyperpigmented skin left. Usually passed through families. Skin is normal as an adult.
(Not to be confused with urticaria pigmentosa that can occur in the first 6 months of life with pigmented lesions that turn into hives and develop blisters with rubbing "aka the darier sign". From increased mast cells. Those kids should avoid nsaids, narcotics, and radiocontrast material.)
What newborn rash is often described as a erythematous macule with an occasional vesicle in it?
Erythema Toxicum - not present at birth but shows the following day - eosinophils on Tzanck smear. Not on palms or soles. Goes away in 1 week. Often yellow pustules on an erythematous base.
What rash mimicks tinea corporis but is "non-scaling".
Granuloma Annulare - common boards trick! Not sure what causes it.
Describe the progression of erythema multiforme minor?
Rash appears abruptly with edematous macules that start on the extremities and spread to the trunk. Taget lesions common. Can involve the mouth.
Remember: EM Major = Stevens Johnson, more severe = TENs
What other physical finding is common with alopecia areata?
- unkown cause, treat with reassurance, can try corticosteroids.
What is telogen effuvium?
The sudden loss of large amounts of hair during routine activities such as showering - often triggered by stress, febrile illness, or surgery. She the telogen bulbs under microscope. Can have complete areas of hair loss in well defined lesions with round patches falling out together.
Sturge Weber is asociated with what occular effect?
Neurofibromatosis: What tumor is associated with NF1 and what with NF2? And which chromosome is each associated with?
1 = Pheochromocytoma - chrom 17
2 = acoustic neuromas aka schwannomas - Chrom 22
What are each of the following rashes associated with?
1. Erythema Chronicum Migrans
2. Erythema Marginatum
1. ECM = Lyme disease - very bullseye lesion
2. EM = rheumatic fever - clears centrally usually on the trunk mainly
What syndrome has hypermobile joints like Ehlers-Danlos but also with blindness, MR, and hypotonia?
Describe the joint pain in HSP
Periarticular disease - NOT ARTICULAR usually involving the soft tissues around the knees and ankles.
What is a Jarisch-Herxheimer reaction in patients with Lyme disease?
Chills, fevers, and possibly hypotension with a sepsis like picture following treatment for Lyme disease due to lysis of the organism with release of endotoxin.
What is Sjogren-Larsson Syndrome?
A AR inborn error in lipid metabolism that results in ichthyosis, spastic diplegia, MR, seizures, and photophobia. DONT get confused with Sjogren syndrome!
The most specific test for lupus is _____.
The most sensitive test for lupus is _____.
Specific = anti-SM
Sensitive = ANA
What are the 3 drugs most commonly linked to drug induced lupus?
Procainamide, hydralazine, and quinidine
Also think D-SLE = Drugs for the heart, Sulfonamides, Lithium, and Epilepsy meds.
What is the concerning rare side effect of hydroxychloroquine, a common medication for treating SLE?
What eye problem is associated with sturge weber syndrome?
What Makes up CHARGE syndrome?
Atresia of choanae
Retarded growth and development
GU abnormsor urinary abnorms
Ear abnorms - deafness
What presents as "acute onset of unsteadiness and decreased hearing"?
A perilymphatic fistula
- hearing loss makes it different than BPV
- ataxia would point to a medulloblostoma
You are presented with a patient with nasal polyps - what test should be done next?
Sweat Chloride since they are seen with CF.
Also seen with: asthma, chronic allergic rhinitis, and chronic sinusitis.
What ENT process presents with widening of the retropharyngeal space with the head often hyperextended and drooling.
Retropharyngeal Abscesses - usually under 4
What ENT process presents with trismus, drooling, a hot potatoe voice, and cervical lymphadenopathy.
What are the 4 causes of delayed eruption of teeth?
"The 4 Hs and Rickets"
Hypothyroidism, Hypopituitarism, Hypoplasia, Hypohidrosis (decreased sweating) & Rickets.
What cause of stridor gets worse when the infant is in the supine position, worse with agitation, and is wet and variably pitched?
What is the technical term for croup that may show up on the boards?
Boys hit Tanner stage ___ prior to going through peak height velocity?
Also, axillary hairfor guys only comes after pubic hair reaches Tanner 5.
What is the first sign of puberty in females and males?
females = thelarche (breast tissue)
males = increase in testicular volue to > 2.5 cm
"Fishy vaginal odor", "Whiff Test", and "Clue cells = _____.
"Strawberry Cervix" & "Frothy yellow discharge" = ______
fish = gardnerella vaginalis
strawberry = trichomonas
What are the LFTs like in Fitz hugh Curtis syndrome?
Normal since it is a perihepatitis not an actual hepitits.
MC cause of ankle injuries in sports are lateral ligament sprains, especially involving which ligament?
The anterior talofibular ligament
Diagnosis? Gymnast with wrist pain that is getting worse. No injury. On exam no swelling and no pain with ROM. Point tenderness is limited to distal radius.
Distal radial epiphyseal injury - needs rest and splinting until healed because it can disrupt the growth plate.
What is the difference in management of a distal vs a medial clavicular fracture?
Medial clavicular fractures require a CT scan but midshaft and out just need a sling and a ticket home.
What makes up Cushing's Triad?
HTN, Bradycardia, and irregular respirations.
What are the three classic lab findings in adrenal insufficiency?
Hypoglycemia, Hyperkalemia, and Hyponatremia
What heart processes are they hinting at with a soft vibratory murmur, intermittent brisk jugular venous pulse wave of the neck, and INCREASED heart rate while CRYING?
Complete Heart Block
What heart condition is caused by ventricular tachycardia and can result in brief generalized seizures?
Long QT syndrome - classic that they pass out while swimming.
What 4 meds can be given via an ET tube in resuscitation?
LANE: Lidocaine, atropine, narcan, and Epinephrine
What is the key medication for warm shock vs cold shock?
Warm = Norepinephrine a vasopressor
Cold = Dobutamine an inotrope
An insult to the head followed by a "lucid period" of hours to days with deterioration later is ususally due to what time of an injury?
An epidural hematoma
What are the 4 points for on the glascow coma scale related to eye opening?
1 = no response
2 = to pain
3 = to voice
4 = spontaneous
What are the 5 points on the glascow coma scale related to verbal response?
1 = no response
2 = moans to pain (incmprehensible for adult)
3= cries to pain (inappropriate words in adult)
4 = Irritable (disoriented in adult)
5 = Coos, babbles (conversation in adult)
What are the 6 points on the glascow coma scale related to motor response?
1 = no response
2 = decerebrate posturing
3 = Decorticate posturing
4 = withdraws to pain
5 = withdraws to touch (localizes pain in adult)
6 = normal/spontaneous (obeys commands in adult)
What acid/base status is lasix associated with? How about acetazolamide? How about HCTZ?
Lasix = hyochloremic, hypokalemic alkalosis - pee out k, ca, and H. (alkalosis from loss of H)
Acetazolamide = metabolic acidosis - pee out bicarb and make alkaline urine (only one w/acidosis)
HCTZ = metabolic alkalosis, also a contraction alkalosis from losing water. Hyponatremia and hypochloremia common (Alkalosis from loss of Cl & water)
Spironolactone decreases ___ and spares ____.
Decreased Na, K sparing. Aldosterone inhibitor so lose Na and water but keep the potassium.