Peds Flashcards

1
Q

Tourette
Age, Comorbidities, Tx

A

Age: 6-15
Comorbidities: ADHD, OCD
Tx: CBT (habit reversal therapy)
1st line: Risperidone, Aripiprazole (2nd gen antipsychotic )

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2
Q

Conjunctivitis
Viral vs Bacterial vs Allergic
Sx, Bugs, Drugs
Comp of bacterial

A

Viral:
- Unilateral and bilateral, last 1-2 weeks, watery mucoid discharge, viral prodrome, sandy/burning eyes
- Bugs: Adenovirus
- Tx: supportive care

Bacterial:
- Unilateral and bilateral, last 1-2 weeks, purulent discharge, unremitting ocular discharge, isolated sx
–CONTAGIOUS D/T LARGE AMOUNT OF VIRUS IN DISCHARGE–
- Bug: Staph Aureus, Strep pneumo, Moraxella, H. Influenza –> Erythromycin ointment or polymyxin-trimethoprim drops
- Bugs: Pseudomonas (contact lens) –> Fluoroquinolone drops
Comp: Keratitis (inflammation of the cornea) –> photophobia, blurry vision, foreign body sensation. Dx: slit lamp exam. Can lead to scarring and blindness if not treated correctly.

Allergic:
- Always b/l, <30min - yearly, watery, ocular itching
- Airborn allergens
- Tx: Antihistamine plus decongestant or mast cell stabilizer drops

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3
Q

Spinal deformity
Kyphosis (2 types),
Scoliosis (red flags, Dx, Tx)
Spina Bifida (path, RF, Sx, Tx)

A

Kyphosis: forward curvature of convexity of thoracic spine.

  1. Postural kyphosis: A “hump” that is easily corrected by back extension or lying supine. Convexity is typically 20-40 degrees. Asx
  2. Structural kyphosis: does not correct. Back pain. Must exclude more serious causes.
    Tx with special exercises. Back brace or surgery is used for chronic pain or if convexity >60 degrees.
    ________________________________________________
    Scoliosis:
    - Lateral S-shaped curvature
    - Red flags: Back pain, neurological sx, Rapid progressing curvature (>10degrees each year), vertebral anomalies)
    - Dx:
    —– Forward bed test with Scoliometer. If angle >7 degrees –> significant —> Progress to X ray of spine to measure Cobb angle.
    - Cobb angle >10 have scoliosis
    - Once skeletal maturity is reached, tx is unnecessary.
    - Cobb angle 10-less than 40: low/medium risk, observe or used back brace
    - Cobb angle >40: surgery
    ________________________________________________
    Spina bifida :
    Pathogenesis: failure of Neuro tube to close

RF:
- Prenatal maternal folate deficiency
- Gestational diabetes and maternal obesity
- Maternal fever in the first trimester
- Genetic factors

Sx:
- Motor/sensory dysfunction
- Neurogenic bladder/bowel
- Hydrocephalus
- Scoliosis

Dx:
- Elevated alpha-fetoprotein
- Prenatal ultrasound

Tx:
- Surgical closure
- Clean intermittent catheterization
- Scheduled laxatives/enemas
- Bracing: correction of deformities

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4
Q

Sickle cell
Prevent, Tx ,CI
Acute chest syndrome tx
Aplastic crisis vs hyper-hemolytic crisis
Sickle cell trait

A

Compensation for chronic anemia with increased erythropoiesis and elevated reticulocyte count.

Prevent: Hydroxyurea

Tx: NSAIDs, oral opiate (oxycodone, hydromorphone) then IV opiate (morphine), Hydration, RBC transfusion

CI: cold compress, codeine and tramadol (<12 d/t risk of respiratory depression and death with rapid metabolism)

Acute chest tx:
Sx: >1 of the following: fever, hypoxemia, CP and respiratory distress
Tx: CTX & Azithromycin

Aplastic crisis:
- sudden cessation of erythropoiesis with very low reticulocyte count. Most commonly caused by Parvovirus B19.

Hyperhemolytic crisis:
- acute, severe anemia and increased reticulocyte count. Unknown etiology.

Sickle cell trait
HbA:HbS ratio 60:40

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5
Q

G6PD (whats happening, Sx, Labs, Dx)
Hereditary spherocytosis (Sx, Labs)

A
  • X linked
  • G6PD normally protects RBC from oxidative burst by producing NADPH
    Sx:
  • Neonatal unconjugated hyperbilirubinemia
  • Acute hemolytic episode: caused by oxidative stress (fava beans, sulfa drugs), Jaundice, pallor, dark urine, abdominal/back pain
    Labs:
  • Hemolytic anemia
  • Bite cells with Heinz bodies
    Dx: Low assay for G6PD (can be normal if acutely ill)
    ____________________________________________
    Hereditary spherocytosis
  • Osmotic fragility
  • genetic hemolytic anemia
  • Spherocytes of peripheral blood smear
    Splenomegaly
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6
Q

Slipped Capital Femoral Epiphysis
Tx

A

Tx: Surgical pinning
Comp: Delay within >24hrs in unstable SCFE –> avascular necrosis, femoroacetabular impingement, osteoarthritis

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7
Q

Congenital Hypothyroidism
Sx <1 vs after, Tx,Comp

A

Lack signs initially d/t maternal T4 crossing placenta.

Age < 1month: jaundice, poor feeding, hypothermia
Age 1-4mo: failure to thrive, constipation

Dx: newborn screening, High TSH and low T4

Tx: Start levothyroxine immediately, US of thyroid. Excellent prognosis if started by 2 weeks old

Comp: Permanent neuro defects w/o tx

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8
Q

Minimal change disease
Labs, Dx, Tx, Prognosis, no remission? what to do next

A

Lab: Low albumin, high cholesterol, proteinuria

Dx: Clinical

Tx: steroids

Prognosis:
- Remission but relapse is common
- Low risk of CKD
- Must monitor for proteinuria

If remission does not occur –> biopsy

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9
Q

Central vs peripheral precocious puberty causes
Non-classical CAH
Idiopathic premature pubarche

A

Precocious puberty: onset of secondary sex characteristics in boys <9 and girls <8
1. Central precocious puberty:
- Causes: Idiopathic, Early maturation of hypothalamic-pituitary-gonadal axis or pituitary tumor.
- Elevated LH and FSH
- starts with breast and testicular growth
2. Peripheral precocious puberty:
- Excess sex hormone production by adrenal tumor, CAH, exogenous estrogen, gonadal tumors
- Low LH and FSH
- acne and early pubic hair
ADVANCED BONE AGE

  1. Non-classical CAH: Low 21 hydroxylase –> elevated17 hydroxyprogesterone. Advanced bone age and growth, early pubic hair, acne,
  2. Idiopathic premature pubarche: isolated pubic hair development.
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10
Q

Androgen Insensitivity
Genotype/Phenotype
Path, Presentation

A

Genotype: 46XY Phenotype: Female

In development, testes produce Anti-mullerian hormone and testosterone. AMH prevent production of female organs, and nonfunctioning androgen receptors prevent male external genitalia.

Breast development and female external genitalia, absent or minimal axillary or pubic hair, absent uterus, cervix, upper 1/3 vagina, Cryptorchid testes

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11
Q

Preseptal vs Orbital Cellulitis
RF, Micro, Dx, Tx

A

Preseptal
RF: Sinusitis but most commonly breaks in the skin
Micro: Staph aureus of Strep pyogenes
Tx: oral antibiotics

Orbital:
RF: Sinusitis
Micro: Strep Viridans , Strep pneumo, Strep aures, H influenza
Tx: IV Antibiotics (Ceftriaxon or amp - sulbactam, possible add vanco) + surgery if orbital abscess forms

Dx: CT orbits and sinuses

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12
Q

Septic Arthritis vs Transient synovitis
Reactive Arthritis (Bugs, sx, Dx, Tx)

A

Septic: caused by bacterial infection –> hip pain, swelling, ill-appearing, febrile, can’t bear weight, decrease ROM, elevated WBC and inflammatory markers.

S aureus, Streptococcus, and Neisseria gonorrhoeae are common causes.

Gonorrhoeae usually causes polyarthralgia, tenosynovitis (eg, hand), dermatitis (eg, pustules).

Dx: Joint aspiration

Tx: drainage and debridement, abx
Can get MRI after debridement to see extent of infection
________________________________________________
Transient: preceding viral illness, age 3-8y/o, well appearing, afebrile, low-grade fever, limp but able to bear weight, restricted ROM, normal WBC and inflammatory markers, small effusion. Can have unilateral pain but b/l effusion.
Tx: supportive, NSAIDs, full recovery in 1-2 weeks
______________________________________________
Reactive arthritis
Bugs: Chlamydia, Salmonella, Shigella, Yersinia, Campylobacter, C Diff

Sx: “Can’t see, can’t pee, can’t bend my knee.”
- Conjunctivitis, anterior uveitis
- Urethritis, cervicitis, prostatitis
- Arthritis of larger joints and axial spine
- Keratoderma blennorrhagicum, circinate balanitis
Dx: aspirationto r/o septic joint, may show sterile synovitis
Tx: treat Chlamydia but other rather bugs are self-limiting. Can give NSAIDs for pain, if ineffective, steroids can be considered

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13
Q

Henoch-Schonlein Purpura vs Hemolytic Uremic Syndrome (HUS)
Sx, Labs, Tx

A

HSP aka IgA vasculitis
- Deposition of IgA, C3 and fibrin in small vessels
Sx:
- Can be preceded by URI
1. Begin as macules that coalesce into Palpable purpura/petechiae on lower extremities
2. Arthritis/arthralgia,
3. Abd pain/ intussusception
4. Renal disease (similar to IgA nephropathy)
- Can also have scrotal pain/swelling
Labs:
- Normal plt, coags, cr.
- High WBCc, ESR
- Hematuria and possible RBC cast and/or proteinuria

Hemolytic Uremic Syndrome
- Can be preceded by acute bloody diarrhea illness (EHEC or Shigella producing Shiga toxins)
1. Microangiopathic hemolytic anemia
2. thrombocytopenia
3. Acute renal failure
Tx: fluids, electrolyte management, blood transfusion, dialysis

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14
Q

Intussusception
Tx, Comp

A

Tx:
- Pneumatic (air) enema or hydrostatic (saline or water-soluble contrast) enema
- Surgical intervention for failed enema or signs of peritonitis
- Barium enema is avoided d/t risk of peritonitis and electrolyte abnormalities

Comp: perforation

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15
Q

Constipation

A

RF: solid food and cows milk, toilet training, school entry

Sx: painful/hard bowel movements, stool withholding, encopresis (passing stool in underwear)

Comp: anal fissures, hemorrhoids, enuresis (bedwetting), UTI

Tx:
1. Increase fiber/water intake, limit cow’s milk, 2. Osmotic laxative like lactulose that cause retention of fluid in gut –> softening of stool
3. Stimulant laxative that increase peristalsis
4. Suppositories/enemas

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16
Q

Enuresis (bed wetting)

A

Nightime urinary incontinence >5y/o
No prior prolonged period of overnight dryness

Path:
- Delayed maturation of bladder control
- Nocturnal urine output (increased evening fluids, decreased ADH)
- low bladder capacity

RF:
- Family hx
- Boys age 5-8

Cause:
Constipation
Bladder dysfunction
Urinary tract infections
Chronic kidney disease
Diabetes mellitus
Diabetes insipidus
Obstructive sleep apnea

Dx:
- Urinalysis: exclude other causes
- Voiding dairy

Tx:
- Treat comorbid conditions
- Behavior modification (restrict evening fluids) and motivational therapy (reward system)
- Enuresis alarm: sensor in patient’s underwear or bed pad to detects moisture and triggers an auditory or vibratory alarm that wakes the patient –> further bladder emptying
- Desmopressin therapy (high rate of relapse after discontinuation. can cause hyponatremia.

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17
Q

ACNE
Tx line (1-5)

A

1st: Retinoids (salicylic, azelaic, glycolic acid)
2nd:Benzoyl peroxide
3rd: Topical abx (clindamycin, erythromycin)
4th: Oral abx (docycline, minocycline)
5th: Oral isoretinoin

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18
Q

AOM (Micro, PE, Tx) vs Effusion
Otitia externa (Micro, PE, Tx)
Ear hematoma (RF, Sx, Tx, Comp)

A

Micro:
- Strep Pneumo
- Nontypeable H. Influenza
- Moraxella
PE:
- fever, ear pain, red/bulging TM
- Otitis-conjuctivitis syndrome can also occur
Tx:
- 1st line - Amoxicillin
- 2nd line - Augmentin
- Penicillin allergy: azithromycin or clindamycin

Ear effusion: fluid behind TM which can persist after treating AOM for up to 3 months
________________________________________________
Otitis externa:
Micro:
- Staph Aureus
- Pseudomonas aeruginosa
- Mild: discomfort, pruritus, canal edema. Tx: topical acidifying solution (acetic acid)
- Moderate: moderate pain, pruritus, partial/complete occlusion from edema. Tx: Topical abx (fluoroquinolone, polymyxin B, Neomycin), wick placement if canal is completely occluded)
Invasive otitis: Broad spectrum systemic abx +/- debridement
________________________________________________
Ear hematoma
RF: contact sports injury
Sx: tender fluctuant blood collection on anterior pinna
Tx: Immediate I&D, pressure dressing, oral abx to cover pseudomonas , daily follow ups for 3-5 days
Comp: Cauliflower ear, bacterial superinfection, reaccumulation of hematoma

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19
Q

ADHD
Tx based on age

A

<6y/o: Parent-child behavior therapy

> 6 y/o:
- 1st line (stimulant): Methylphenidate and amphetamines
- 2nd line (non-stimulant): Atomoxetine and alpha adrenergic agonist
- Prior to initiation: cardiac hx (patient or family), exam, baseline weight and vital should be obtained.
- Twitching between meds does not require tapering or washout

20
Q

Nonaccidental trauma
Burn red flags

A

Burn: Back/butt with uniform erythema and clear line of demarcation. Ascence of splash marks. Sparing flexural creases. Sparing central butt (forced to bottom of tub and cant more/thrash)

21
Q

Pediatric Traumatic brain injury (PECARN)
high risk features, Dx

A

High risk features
- AMS (fussy behavior)
- LOC
- Severe mechanism of injury (fall >3ft in <2y/o and >5ft >2 y/o, high impact, MCV)
- Nonfrontal scalp hematoma
- Palpable skull fracture
- Basilar skull fracutres

Dx: CT scan w/o contrast or observation for 4-6hrs in ED.

22
Q

Acute Rheumatic Fever
Major and minor criteria, Tx

A

Major criteria:
J- Joint pain (migratory arthritis)
<3 - Carditis
N - Subcutaneous nodules
E- Erythema marginatum
S- Sydenham chorea (emotional lability, decline in school performance, hand movements, facial grimacing, feet jerking, pronator drift present.

Minor criteria: fever, arthralgia, elevated ESR/CRP, prolonged PR interval

2 MAJORS, 1 MAJOR + 2 MINORS, ONLY CARDITIS OR ONLY SYDENHAM

Prevention: Penicillin
Tx: long-acting IM Penicillin until adulthood for secondary prevention to eradicate group A strep and prevent recurrent episodes. Complete resolution occur within months.

23
Q

Delayed puberty
Constitutional puberty delay
Familial short stature

A

Boys:
- lack of testicular enlargement by age 14 d/t lack of testosterone

Hypogonadism
- Primary: gonadal failure
- Secondary: impaired GnRH

Work up:
- FSH, LH, Testosterone, Prolactin to differentiate from primary and secondary.
- Bone age radiograph

Girls:
- Lacks breast development by age 12
- Normal order: breast development (thelarche) then onset of menses 2-2.5 years later.

CONSTITUTIONAL PUBERTY DELAY
- Delayed bone age
- Short stature but normal growth velocity
- Family hx of “late bloomers”

FAMILIAL SHORT STATURE
- Normal bone age
- Short stature but normal growth velocity

24
Q

Cleft lip
Factors

A
  • May occur in isolation, but can be associated with cleft palate.
  • The pathophysiology of isolated orofacial clefts is usually multifactorial and related to complex interactions between genetic and environmental factors.
  • However, sporadic cases with no family history or identifiable RF can occur.
  • Some are related to genetic syndromes with associated multisystem anomalies.
  • With the absence of genetic syndromes, the risk of reoccurrence is < 5%.
25
Q

Neuroblastoma (path, sx dx) vs Wilms(sx)

A

Neuroblastoma:
Path:
- Neural crest origin
- Involves adrenal medulla or sympathetic chain
Sx:
- Abd mass
- Periorbital ecchymoses (orbital metastases)
- Spinal cord compression from epidural invasion
- Opsoclonus-myoclonus syndrome
Dx:
- Elevated catecholamine metabolites
- mall round blue cells
- N-myc gene amplification

Wilm’s
- Renal malignancy –> unilateral, abdominal mass

26
Q

Diaper Rash
Contact dermatitis vs Candida dermatitis
Sx, Tx
Diape impetigo (bus, sx)

A

Contact
- Most common
- SPARES CREASES/SKINFOLDS
- Tx: Petrolatum, zinc oxide

Candida
- 2nd most common
- Beefy red involving skinfolds w/satellite lesions
- Tx: Topical anti-fungal (Nystatin, Clotrimazole)

Diaper Impetigo
- Most common bugs: Straph aureus, Strep pyogenes
- Painful papules and pustules
- Honey-colored crust

27
Q

Lower extremity changes

A

Age 0-2 y/o Valrum (bowed)
~Age 2: Neutral
Age 2-6 y/o: Valgum
~>7: Neutral

28
Q

Circumcision
Benefits

A

Benefits
- Decrease (10 fold) of UTI in 1st year of life
- Prevent phimosis (foreskin constriction preventing retractions) and modest reduction in risk of penile cancer (likely d/t reduction of phimosis, which is a RF)
- Reduction of penile infection (ex. balanitis)
- Reduce risk in acquiring some STI’s (HPV) and HIV in penile-vaginal sex

29
Q

Lead screening
RF, Sx, Dx, Tx

A

RF:
- Homes build before 1978
- Pica, mouthing

Sx:
- Asx
- Abdomin pain/constipiation
- Cognitive impairment/behavioral problems
- Encephalopathy

Dx:
- Screen: capillary testing
- Confirm: venous lead level

Tx:
5-<45: counseling and close follow up in 1 month
>45: chelation therapy (succimer)
>70: Dimercaprol plus calcium disodium edetate

30
Q

CP
(RF, Sx, Dx, Prognosis)

A

RF:
-Prematurity
- Low birth weight
- Intrauterine infection
- Perinatal asphyxia

Sx:
- Delayed motor milestones
- Abnormal tone, hyperreflexia (commonly start in lower extremities)
- Persistent or asx fisting, and early hand preference
- Comorbidities: seizures, intellectual disability

Dx:
- Clinical (usually by age 1-2)
- MRI (periventricular leukomalacia, basal ganglia lesions)

Prognosis:
Permanent, non-progressive deficits

31
Q

Screening test
Lipid age

A

Dyslipidemia
- Use nonfasting lipid panel
- screen between age 9-11 then 17-21
- No screening between age 12-16 d/t natural variation of lipid levels during puberty.
- However, patient with the following RF warrant frequent screening regardless of age (starting at age 2 and occuring every 1-2 years): Obesity, DM, HTN,a family hx of hypercholesterolemia or premature CVD.

32
Q

Chronic Grandulomatous Disease
Whats going on, commom bugs

A

Phagocytes of patients with CGD can utilize H2O2 generated by catalase-negative organisms and convert it to reactive oxygen species.

Organisms with catalase can neutralize their H2O2 so ROS can’t be made. These species are S aureus, Burkholderia, Serratia, Nocardia, Aspergillus

33
Q

Neurofibromatosis 1 vs 2(Path, Sx)

A

Type 1:
Mutation in NF1 tumor suppressor gene on chromosome 17 , which normally codes for neurofibromin, a negative regulator of RAS. Autosomal dominant, 100% penetrance.

Sx:
- Café-au-lait spots (hypERpigmented)
- Cutaneous neurofibromas (benign neoplasm)
- Optic gliomas
- Pheochromocytomas
- Lisch nodules (pigmented iris hamartomas).
- Axillary and inguinal freckling
- Pseudoarthrosis
- Scoliosis
________________________________________________
Type 2
Mutation in NF2 tumor suppressor gene on chromosome 22.
Autosomal dominant.

Sx:
- Café-au-lait spots (hypOpigmented)
- Bilateral acoustic schwannomas
- Juvenile cataracts
- Meningioma
- Ependymomas.
NF2 affects 2 ears, 2 eyes, and 2 parts of the brain.

34
Q

Tuberous sclerosis
Sx, Test/surveillance, most common cause of death

A

TSC1 mutation on chromosome 9 or TSC2 mutation on chromosome 16.
Tumor suppressor genes
Autosomal dominant, variable expression.

Sx:
HAMARTOMAS:
- Hamartomas in CNS and skin
- Angiofibromas
- Mitral regurgitation
- Ash-leaf spots (hypopigmented patch)
- Cardiac Rhabdomyoma
- Mental retardation (intellectual disability)
- Renal Angiomyolipoma
- Epilepsy (infantile spasms)
- Shagreen patches
- Increased incidence of subependymal giant cell astrocytomas and ungual fibromas.

Surveillance
- Tumor screening (Regular skin & eye exams, baseline and serial MRI of brain & kidney, and serial EKG’s
- Baseline echo (most cardiac rhabdomyomas develop in utero and are seen during antenatal sonography. Most are asx and resolved spontaneously during infancy.
- Baseline EEG
- Neuropsychiatric screening.

Neurological impairment is the leading cause of death. Death may be due to tumors (mass effect) or uncontrolled seizures (status epileptics, aspiration PNA)

35
Q

Neonatal graves disease

A

Path:
- Transplacental passage of maternal TSH receptor-stimulating antibodies
- Ab bind to infants TSH receptors –> excessive thyroid hormone release –> neonatal thyrotoxicosis

Dx:
- Maternal and neonate TSH receptor-stimulating Abs
- Low TSH and High free thryoxine

Tx:
- Methimazole + beta blockers
- Self resolve in months d/t Ab clearance

36
Q

Pyloric stenosis
Path, Age, PE, Labs, Dx

A

Smooth muscle hypertrophy of the pylorus —> gastric outlet obstruction —> non-bilious emesis
Age: 3-6 weeks
PE:
- Olive-shaped abdominal mass
- Visually prominent peristaltic waves representing exaggerated gastric contractions attempting to move food beyond the obstruction
Labs: hypocholoremia, hypokalemic metabolic alkalosis.
Dx: Abd US
Tx: IVF & electrolyte correction –> surgery

37
Q

Duchenne Muscular Dystrophy
Labs, Dx, Tx, Prognosis

A

Labs: elevated CK
Dx: genetic analysis
Tx: Steroids, serial ECG, Echo, PFT
Prognosis: shortened lifespan (age 20-30), death d/t respiratory or heart failure

38
Q

Juvenile Myoclonic Epilepsy

A
  • Usually present with absence seizures up to 5 years before other seizure types appear.
  • In adolescence, patients classically present with myoclonic seizures of the arms within the first hour of waking up that can be aggravated by sleep deprivation and alcohol intake.
  • Generalized tonic-clonic seizures occur later in life

Dx: Bilateraly polyspike & slow wave activity

Tx:
- 1st line: Valproic acid
- Avoid triggers (alcohol, sleep deprivation)

39
Q

Cryptochidism
Complication and how it changes after surgery

A
  • If undescended by 6 months, referral for orchiopexy
  • Although surgery reduces the risk of malignant transformation, the risk is higher compared to the general population despite surgery.
  • Surgery helps preserve fertility
  • Without surgery, testicular torsion is more likely
40
Q

Chronic mucocutaneous candidiasis
Cause, Sx

A

Autoimmune regulator gene (AIRE) deficiency
Impaired negative selection of T cells —> T cells immunodeficiency and autoimmunity

Sx:
Chronic candida infection
Autoimmune polyendocrinopathy (Hypothyroidism –> hypocalcemia , adrenaline sufficiency, type one diabetes, thyroiditis )

41
Q

Foreign body aspiration

A
  • History of sudden onset coughing
  • If unwitnessed, can also present with chronic cough, focal wheeze that is unresponsive to bronchodilators, and unilateral hyperinflation,
42
Q

Fragile X

A

Triple repeat of CGG in the FMR1 gene of the X chromosome

Feature:
- Intellectual disability & neurobehavioral issues
- Prominent forehead
- Large ears
- Long, narrow face
- Prominent chin
- Macroorchidism
- Hyperlaxity of joints in hands

43
Q

SIDS (RF and Protective factors)

A

RF
- Smoking exposure (parental and postnatal)
- Prematurity
- Prone-lying sleep

Protective factors
- Room sharing
- Supine position
- Pacifier use

44
Q

Prenatal testing
Trisomy 21, 18, and 13

A

1st trimester
Trisomy 21: HIGH B-hCG, low PAPP-A
Trisomy 18 and 13: Low B-hCG and PAPP-A

2nd trimester
Trisomy 21: HIGH B-hCG and Inhibin A, Low AFP and Estriol
Trisomy 18: Low everything
Trisomy 13: Normal everything

1st trimester combined test 9-13 weeks
Cell-free fetal DNA >10 weeks
Chorionic villus sampling 10-13 weeks
2nd trimester quadruple screen and amniocentesis 15-22 weeks

45
Q

Meconium ilius vs Hirschsprung

A

Meconium
meconium plug obstructs intestine, preventing stool passage at birth.
Associated: CF
Xray : underused microcolon
Sx: sweat chloride test

Hirschsprung
- lack of ganglion cells/enteric nervous plexuses (Auerbach and Meissner plexuses) in distal segment of colon. Due to failure of neural crest cell migration.
- Sx: Failure to pass meconium
Dx:
- squirt sign
- empty rectum on digital exam.
- Xray: transition zone between normal/narrow caliber rectosigmoid and dilated descending colon
Association: Down syndrome
Dx: rectal suction biopsy
Tx: surgical resection aganglioic segment and anastomosis of normal bowel to anus.

46
Q

NAS (time frame of sx, dx, tx)

A

Presents within 24 in patients exposed to short-actin opioids (heroin) and within 48-72hrs in patients exposed to long-acting opioids (methadone)

Dx:
- UDS (does not rule out)
- Umbilical cord blood or meconium drug screen

Tx:
Mild: minimize environmental stimuli, swaddling, frequent small feeds
Moderate-severe: Morphine o methadone