Dr. Yang

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Growth and development

use standard curves for first 36mo to gauge short stature and failure to thrive; indicator of child's health and deviation from normal may indicate underlying problem

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Short stature

below average height for sex/age; shortest 5% of population; usu 3 standard deviations from the norm; when in doubt go back to standard curve if the demographics produce larger children; look at parents - child may be normal for genetics

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Causes of short stature

genetic, nutritional, endocrine/metabolic, chronic disease (JRA), phsyco/social (neglect), constitutional

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Insulin and stature

most influential of all growth hormones; baby can become very large in utero if mom is diabetic

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Androgen/Estrogen steroid hormones and stature

most influential during growth spurt at puberty; high velocity

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Hormonal influences on stature

insulin, thryoid hormone, growth hormone, androgen/estrogen

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Constitutional Delay in Height

slower growth in peripubertal time than normal; growth velocity curve is more attenuated w/lower increase at puberty

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Peripubertal events in growth: Girls

breast buds appear before pubic hair, growth velocity peaks and menarche starts

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Peripubertal events in growth: Boys

enlargment of testes, then pubic hair, then penile growth; peak height velocity is 2yrs after that of girls (14 vs 12)

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Growth hormone deficiency

characterized by short stature of varyin derees dependent on severity and specific abnormality (GH, GH-releasing hormone receptor, or GHR)

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Alterations in GH include

alterations in production, regulation, secretion and bioactivity of GH

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Abnormalities in GHR may be

due to genetic or acquired defects causing a state of GH resistance or insensitivity referred to as GH insensitivity syndromes (GHIS)

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Anterior Pituitary Hormones

GH, LH, FSH, TSH, Prl, ACTH

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GH specifics

191 aa, causes growth in almost all tissues by inc cell number ans size and promoting differentiation of specific cells (ex: muscle cells)

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Sleep and Growth Hormone

secreted in pulsatile fashion under control of hypothalamic GHRH and somatostatin; blood concentration peaks 60-90min after falling asleep

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Idiopathic hypopituitarism

can present as isolated deficiency or part of a combined pituitary hormone deficiency syndrome;

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Neonates and idiopathic hypopituitarism

usu present w/normal birth wt and length, but impaired growth occurs w/in 2yrs; in neonatal period hypoglycemia/prolonged jaundice or micropenis should alert physician of a congenital problem

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GHD and Hypopituitarism

some families have isolated GHD while others have multiple pituitary deficiencies; those pedigrees w/resistance to GH are highly consanguineous

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Causes of GHD

idiopathic, genetic, congenital, acquired, cranial irradiation, transient (psychosocial deprivation); 1/3,500 kids

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Congenital causes of GHD

a/w structural defects (no corpus callosum, septo-otic dysplasia, holoprosencephay, arachnoid cyst); a/w midline facial defects (single central incisor, clefting, nasal dimple)

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Acquired causes of GHD

perinatal/postnatal trauma; CNS infxns, primary tumors of hypothalamus or pituitary (craniopharyngioma, glioma/astrocytoma, germinoma); Secondary tumors of hypothalamus/pituitary (histiocytosis, lymphoma)

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Idiopathic GHD

no organic lesion; defective synthesis/release of hypothalamic GHRH in most pts; high incidence in perinatal probs (ex: breech birth, vaginal bleeding)

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GH insensitivity syndromes

severely short; they don't grow; characteristic facies (Laron Syndrome); GH levels are either high or normal; GHR defect

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GH insensitivity: pathophysiology

GH induces IGF-1 secretion by liver/peripheral tissues; integrity of GH:IGF-1 axis is essential for normal linear growth in childhood; defects in GH secretion or action will result in dec serum IGF-1 which is the key growth promoting peptide

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Insulin-like Growth Factor-1 (IGF-1)

70 amino acids (not insulin...which itself is only 26 aa when clipped off of c-peptide); it is a trophic factor that mediates effects of GH

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Congenital Hypothyroidism: Symptoms

floppy infant, thick/protruding tongue, poor feeding, choking episodes, constipation, prolonged jaundice, short stature

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Congenital hypothyroidism: Signs and Tests

widely separated sutures w/large fontanelles, dull facies, dry/brittle hair w/low hairline, short thick neck, growth failure, short limbs, broad hands w/short fingers, myxedema, hypotonia, hoarse cry/voice

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Congenital hypothyroidism: stats

dt incomplete thyroid development in 1/3000 births; girls 2x more likely than males; usu screened w/PKU screen at birth and at 2wk follow-up; if not caught, child develops MR

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Congenital hypothyroidism: Treatment and complications

early dx is imperative, most effects are easily reversible; critical development of nervous system takes place during first few months; complicated w/MR and Growth retardation

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Failure to thrive

usu noticed when child seems much smaller/shorter than peers; there is a normal variation so the "rate of change in weight and height" may be a better indicator; differentiate from medical or psychosocial problems

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Failure to thrive: causes...major workup, but once you find the cause you can remove child from FTT category!

chromosomal; defective organ systems, endocrine probs; damaged CNS causes feeding probs; cardiac/respiratory disrupts O2/nutrient delivery; anemia/blood disorders; GI malabsorp/absence of digestive enzymes; cerebral palsy, chronic gastroenteritis, GERD

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Symptoms of FTT

height, weight, head circumference doesn't progress normally; <3rd percentile; physical skills (roll over, sit, stand, walk are slow to develop); mental/social delay; delay of secondary sexual characteristic development; poor brain develop; poor nutrition

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Lab workup for FTT

CBC (anemia), electrolytes, urinalysis, *thyroid fxn test, hemoglobin electrophoresis, xrays for bone age

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Physical exam for FTT

vitals, general appearance, texture of hair/nails, alopecia, hygiene, rashes, bruises, burns, scars (signs of abuse); adversive behaviors - gaze avoidance, arching, hypertonicity, refusal to attach or respond appropriately, unusual body movements

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Glucose

1* energy source; stored as glycogen in liver/muscle during fed/anabolic state; glycogenolysis occurs during fasting/catabolic state to release glucose

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Glycolysis pathway: fate of pyruvate

glucose metabolized to pyruvate, aerobic conditions (PDH regulates intry to TCA; acetyl-CoA oxidation to CO2); Anaerobic (no O2, no oxphos, no TCA; pyruvate shunt to lactose)

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Fasting

hormonal response, dec insulin, inc glucagon/adrenalin/cortisol; glycogenolysis, gluconeogenesis, mobilization of FFA, FFA undergo b-oxid

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Hypoglycemia

fasting and depleting glycogen stores; too much insulin (insulinoma, pancreatic b-cell hyperplasia); not enough substrate

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Ketosis

fasting, depletion of glycogen store; low blood insulin, TG hydrolysis, FFA mobilized for b-oxid in mito; Acetyl-CoA processed by TCA; acetyl acetate/b-OH butyrate inc

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Catabolic state

aa undergo oxidation and gluconeogenesis; 1st enzymatic stage is transamination to a-keto acid; 2nd step is decarboxylation

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Cori cycle

gluconeogenesis in liver and glycolysis in muscle

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Von Gierke's Disease: Type I GSD

G6P defect causes inability to convert G6P to glucose; all glycogen is trapped in liver/kidney/intestinal mucosa; fasting hypoglycemia and lactic acidosis, hepatomegaly, hyperlipidemia w/milky serum, hyperuricemia; most common GSD in kids

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McArdle's Disease: Type V GSD

myophosphorylase defect; inability for muscle to generate ATP from glycogenolysis; severe pains/cramps from exercise in late child/adulthood; 50% have myoglobinuria secondary to Rhabdomyolysis after exercise; most common GSD in adults

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Von Gierke's Clinical Triad

hypoglycemia, hepatomegaly, lipemic serum

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Lysosomal storage disease

usu no treatment; prenatal diagnostic enzymatic tests available;

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Gaucher's Disease

auto rec; deficiency of Glucocerebrosidase a/w accumulation in MQs; Ashkenazi Jews (1:1000); gene frequency (1:18)

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Gaucher's Disease Sx:

organomegaly, anemia, bone disease, neurological symptoms

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Gaucher's Disease: Tx

IV enzyme replacement therapy; gene therapy will cure dx permanently

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Neimann-Pick Disease

lysosomal storage disease; hepatosplenomegaly, cherry red spot in retina

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Tay-Sachs Disease

lysosomal storage disease; Cherry red spot in retina

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Mucopolysaccharoidosis (MPS)

accumulation of GAGs dt lysosomal degradation enzyme defect; excessive urinary excretion of GAGs; cellular dysfxn/tissue/organ death

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Hurler MPS-I and Hunter MPS-II

Iduronidase defect (a/w corneal clouding and inguinal hernias); Iduronidase sulfatase defect; Both accumulate dermatim sulfate and heparin sulfate

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Urea cycle defect

not noticed until after child is at home; symptoms of hyperammonemia is not specific; failure to feed, loss of thermoregulation w/low core temp; somnolence

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Hyperammonemia

sx progress from somnolence to lethargy and coma; abnml posture/encephalopathy dt CNS swelling/pressure on brainstem; 50% have seizures; hyperventilation 2* to cerebral edema and respiratory alkalosis; hypoventilation/respiratory arrest ensue

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Hyperammonemia in milder urea enzyme deficiencies

accumulation may be triggered by illness or stress later in life which elevate plasma [ammonia]; Sx more subtle (loss of appetite, cyclic vomiting, lethargy, abnml behavior, sleep disorders, delusions, hallucinations, psychosis)

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Urea cycle defects

arginase deficiency, carbamyoyl phosphate synthase deficiency, citrullinemia, hyperornithinemia, homocitrullinemia syndrome, N-acetylglutamate synthetase deficiency, ornithine transcarbamylase deficiency

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Deficiencies of the 1st 4 enzymes of the urea cycle (CPSI, OTC, ASS, ASL) or the cofactor producer (NAGS) results in

accumulation of ammonia or other precursor metabolites in 1st few days of life; there is no secondary clearance, so symptoms develop rapidly; severity depends on where in cycle the defect is;

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Carbamoylphosphate synthetase I deficiency (CPSI)

the most severe urea cycle disorder (along w/OTC deficiency); develop rapid hyperammonemia in newborn period; pts who are rescued are at chronic risk for repeated episodes of hyperammonemia

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Ornithine transcarbamylase deficiency (OTC)

absence of its activity in males is as severe as CPSI deficiency; 15% of carrier females develop hyperammonemia that may require medical managment sometime during life

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Citrullinemia (ASS) deficiency

severe hyperammonemia; pts are able to incorporate some waste nitrogen into urea cycle intermediates, which makes treatment slightly easier than OTC and CPSI

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Argininosuccinic Aciduria (ASL) Deficiency

rapid onset hyperammonemia in newborn; require arginine supplementation; chronic hepatomegaly and elevated transaminases

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Argininemia (ARG) Deficiency

not typically characterized by rapid-onset hyperammonemia; usu develop progressive spasticity, tremor, ataxia, choreoathetosis; growth is delayed

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OTC: X-linked inheritance - Parents of a male proband

father not affected/not a carrier; in families w/>1 affected the mom is obligate carrier; if only 1 male, mutation may be de novo

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OTC: X-linked inheritance - Parents of a female proband

due to de novo mutation or inherited mutation from either mom or dad; if female proband is only affected in family, test both parents

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OTC: X-linked inheritance - Sibs of a male proband

risk depends on carrier status of mom; if she is a carrier, there's a 50% risk w/each pregnancy; if mom has no OTC mutation on leukocytes there is still a chance of germline mosaicism

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UCD

rapidly reducing plasma ammonia concentration; pharm management for alternative nitrogen excretion; dec excess nitrogen in diet by eating more CHO and fat; red risk of neurological damge

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Tx for Hyperammonemia

dialysis is fastest way until plasma levels <200umol/L; retreat rebound hyperammonemia; block production of ammonia w/IV arginine chloride; fat/CHO diet;

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Inborn Errors of Metabolism (IEM)

rare, early recognition prevents MR; presentation confused w/sepsis, CNS disorders, cardiac/respiratory/GI diseses

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Presenting symptoms of IEM

lethargy, poor feeding, Sx after feeding, seizures, persistant vomiting, tachypnea, Kussmaul breathing, apnea, jaundice, hepatomegaly, hypotonia, spasticity, FTT, bleeding, no risk for sepsis, fam Hx of early child death, consanguinity

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IEM: Clinical manifestations

metabolic acidosis, hyperammonemia

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IEM: Lab evaluation

CBC, differential, platelets, serum electrolytes, arterial blood gas, serum glucose, blood ammonia, urine for reducing substances (R/O galactosemia), urine (ketones), urine/blood (aa), urine (organic acids)

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IEM: emergency treatment

remove accumulating metabolites via dialysis; stop ptn ingestion; arginine infusion if suspect urea cycle defect; B12/biotin for organic acidemia; send in labs; consult geneticist/metabolic specialist; if dying (samples - urine/plasma; tissue/liver bx)

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Common IEM: Organic acidemias

Methyl malonic acidemia; Propionic acidemia; Multiple carboxylase deficiency; Isovaleric acidemia; Maple syrup urine disease

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Common IEM: Urea Cycle Defects

Ornithine transcarbamylase deficiency; Arginosuccinic aciduria; Citrullinemia

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Maple Syrup Urine Disease

branched chain aa; alpha-keto acid dehydrogenase defect; valine, leucine, isoleucine; essential aa

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Congenital Adrenal Hyperplasia

ambiguous genitalia vomiting, diarrhea, dehydration salt-wasting; FTT & adrenal crisis in first 3-4wks; Dx w/elevated serum 17 hydroxyprogesterone and inc testosterone in females; Tx: glucocorticoid supplement for life to replace deficient cortisol

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Congenital Adrenal Hyperplasia: general

80-90% have 21-hydroxylase deficiency; potentially fatal if unrecognized b/c severe cortisol and aldosterone deficiency leads to: salt wasting, **hyponatremia/kalemia**, dehydration, hypotension

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CAH: males

CYP21 deficiency; not identified neonatally b/c genitals are normal; seen at 1-4wks dt salt wasting and failure to thrive; some pts misdiagnosed w/gastroenteritis or pyloric stenosis

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CAH: females

CYP17 deficiency; phenotypically obvious at birth; no breasts or menstruation in adolescence dt low estradiol levels

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CAH: enzymes involved in cortisol/aldosterone sythesis

cytochrome p450 enzymes; CYP21 (21-hydroxylase); CYP11B1 (11-beta-hydroxylase); CYP17 (17-alpha-hydroxylase)

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CAH and Hypertension

CYP11B1 and CYP17; dt accumulation of deocxycorticosterone; results in sodium retention

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CAH: Genetics in US - Most common

CYP21 deficiency; 90% of adrenal hyperplasia; mutations or partial deletions; ashkenazi jews; auto rec dx requires 2 abnml genes; not all mutations/parital deletions result in disease

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CAH Diagnosis

GET KARYOTYPE for sex; inadequate cortisol, aldosterone, or both in presence of accumulated precursor hormones; female ambiguous genitalia, salt-wasting, clitoromegaly, precocious pubic hair, excessive growth, premature phallic

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Bronchiolitis

acute inflam obstruction of lower respiratory tract in infants; severe dx in 1-3month old; by 2yrs all kids have been infected; more freq in premies

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Causative agents in bronchiolitis

Respiratory syncytial virus (RSV); Parainfluenza virus; Adenovirus, Mycoplasma

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Bronchiolitis: Clinical Presentation

sneezing, clear rhinorhea, diminished appetite, fever, wheezy cough, dyspnea, tachypnea

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Bronchiolitis: Physical findings

nasal flair, suprasternal retraction, intercostal retraction, substernal retraction, dec breath sounds, bilateral wheezing, prolonged expiration

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Bronchiolitis: Differential

asthma, foreign body in trachea, tracheomalacia, bronchomalacia, vascular ring (2nd aortic arch chokes trachea); CHF; CF; pertusis

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Bronchiolitis: Treatment

oxygen, bronchodilators (nubulized beta-agonists); Corticosteroids (parenteral, oral, nubulized); Antivirals (aerosol Ribavirin)

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Bronchiolitis: Prevention

IM injectable monoclonal antibody to RSV F protein; prevents severe RSV in high risk infants; given to infants <2yo w/chronic lung disease or prematurity

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Four Stages of Pneumonia

Congestion (first 24hrs); Red Hepatization (2-3days); Gray Hepatization; Resolution

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Neonatal Pneumonia Presentation

tachypnea, respiratory distress (grunting, flaring, retractions); poor feeding, irritability, *hypothermia in newborns; cyanosis

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Early onset Group B streptococci infxn in neonates

presents via ascending perinatal infxn as sepsis or pneumonia in 1st 24hrs of life

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Chlamydia trachomatis pneumonia in neonates

often exists with conjunctivitis and presents during 2nd or 3rd week of life

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Infants: presenting symptoms of pneumonia

cough, wheezing (usu upper airway noise), Hx of upper respiratory Sx; depending on degree of illness tachypnea, grunting, retractions, vomiting, poor feeding, irritability

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Infants with bacterial pneumonia

often are febrile

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Infants with viral pneumonia

often low-grade or afebrile

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Toddlers and Preschool Kids: Pneumonia

**Cough;**Hx of upper respiratory illness bf onset of Sx; vomiting (post-tussive emesis); chest pain; abdominal pain w/tenderness (lower lobe infxn from virus); fever w/bacteria

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Older kids and adolescents: Pneumonia

in addition to young child sx, HA, pleuritic chest pain, vague abdominal pain, vomiting, diarrhea, pharyngitis, otalgia/otitis; **Atypicals like Mycoplasma are more common in these pts**

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Physical exam for suspected pneumonia

"shirts off, lights on;" observe attempt at feeding

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Pneumonia and auscultation

"Crackles," focal wheezing or whistling and dec breath sounds in one lung field usu complicated by concommitant URI w/secretions; can lead to erroneous Dx; if sounds from both locations are approx the same, the likely source of abnml sound is upper airway

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Focal Crackles (rales) in a febrile chils w/o underlying lung disease is:

Pneumonia until proven otherwise...however, not all kids have them

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Pneumonia and percussion

focal areas of dullness localizes lesion; coincides w/crackles or location of pleurisy; can be verified on CXR (xrays lag 24hrs, so if kid is suspected, treat and repeat xray later)

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Pathogens for newborns

acquired from maternal genital tract (Group B strep, E. coli, fecal coliforms, C. trachomatis); bugs from older sibs, day care, lack of immunization (esp pertussis)

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Pathogens: 1-3 months of age

S. pneumoniae, S. viridans, S. aureus, H. influenzae; Most lower respiratory infxn occurs during flu season

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Pathogens: beyond the newborn period

viruses cause most lower respiratory infxns: Parainfluenza virus, Influenza virus, Adenovirus, Respiratory syncytial virus (RSV)

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Pathogens: Older kids and adolescents

bacterial pneumonia (Pneumococcus sp.); M. pneumoniae; C. pneumoniae; Pertussis may reinfect once immunity wears off (paroxysmal whooping cough 3wks - 3 months)

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Imaging studies for lower respiratory infections

**only use to confirm your physical findings** CXR for pneumonia (AP and lat)

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Lab work up for pneumonia/LRI

CBC (Neutrophil polymorph left shift (bacterial); Lymphocytes (viral and atypical infxns); Cultures not that useful (sputum Gram stain, Ab testing)

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Asthma

bronchospasm, reversible airway disease, past Hx of bronchiolitis dt RSV infxn in infancy; may be a/w later development of COPD

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Asthma: Physical findings

prolonged expiration, expiratory wheezes, dec breath sounds, intercostal retraction, intercostal retraction, suprasternal retraction, nasal flairs

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Triggers for Asthma

allergens, exercise, cold air, pollutants (smoke, exhaust, molds, house dust), infxns

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Acute asthma treatments

nebulized adrenergic bronchodilators, nebulized steroids, oral steroids, SQ adrenergic bronchodilators, oxygen

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Chronic asthma treatments

aerosol adrenergic bronchodilators, aerosol steroids, combo bronchodilators/steroids; mast cell stabilizer; antihistamines (H1), leukotriene antagonists;

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Elimination of allergens

pets, carpets, molds, smoke, get solid floors, air filters; hypoallergenic bed stuff, rugs, door mats

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Peak flow meter

quick determination of airway constriction, full pulmonary fxn is needed, allows home monitoring of asthma

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Sudden Infant Death Syndrome

unexpected sudden death bf 1yr of age w/inadequate demonstration of cause of death upon autopsy; death occurs when infant is presumed asleep; no outward symptoms

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SIDS Statistics

3rd leading cause of infant mortality in US 1mo - 1yr; rate has decreased by 50% since Drs recommended baby sleeping w/face up

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SIDS Risk Factors

age (peak age of 2-4mo); males; afro-american or native american; FTT, no pacifier, prematurity, prone sleep position, recent fever, smoking exposure, soft bedding, thermal stress (no heat in home), cold season

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Pathologic Apnea in Neonates

>20sec duration or <20sec if accompanied by bradycardia or O2 desaturation; rarely occur in preturm neonates older than 36wks

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Bradycardia in premataure neonate

when HR slows at least 30bpm from resting heart rate

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Pathologic O2 saturation level in neonate

<85% for at least 5sec;

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Apnea of Infancy (AOI)

persistant apnea in child >37wks;

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Apnea of Prematurity (AOP)

coincides with AOI, exact relatioship isn't clear

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Periodic Breathing (PB)

periods of regular respiration for up to 20sec followed by apneic periods of less than 10sec that occur at least 3x in succession; occurance is directly proportional to degree of prematurity; more freq in active sleep & at high altitudes; no Tx required

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Apparent Life-Threatening Event (ALTE)

NOT a diagnosis; rather, a frightening episode w/combo of apnea, color change, marked change in muscle tone, choking or gagging; fear that infant has died; misleading close-association with SIDS; 2x more common in males 8-14wks, premature at risk dt RSV

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Mortality/Morbidity Relationship btw SIDS and ALTE

most pts dying of SIDS did not have previous ALTE; no relationship; pshychological morbidity exists with ALTE when monitors are employed b/c child is treated as if they "almost died"

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ALTE: GER, Color change

gastroesophageal reflux a/w choking; Most often baby is RED (cyanosis suggests a clinically significant episode)

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Respiratory Pauses

>20sec w/o vomiting, abnormal movements, or color change

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Potential Causes of ALTE

infxn (sepsis, meningitis, infant botulism); Inborn errors of metabolism; Congenital adrenal hyperplasia; Dehydration or renal tubular acidosis; Child abuse (aborted infanticide, Munchausen syndrome by proxy (previous SIDS death in fam), physical abuse)

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Upper Respiratory Infections

rhinitis, pharyngitis/tonsilitis, otitis media, sinusitis, nasopharyngitis, epiglotitis, laryngitis

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Signs and symptoms of URI

cough, sneezing, rhinorhea, rales, stridor, wheeze, rhonchii, HA, fever, malaise, body ache, ear ache, retraction, tiredness, irritability

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Coughing

*Pts seek med treatment for this more than any other complaint* - body's way to remove foreign material/mucous from lungs/throat

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General classifications of cough

productive (phlegm or mucous from lungs); non-productive (dry not producing phlegm); they can be acute (<3wks duration) or chronic (>3wks duration)

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Some causes of cough

usu viral URI (stimulation of nasopharyngeal mucosa receptors); results in secretions of nose and sinuses draining into throat; Dry coughs may follow viral illnesses for wks; Chonic cough (asthma, CF, allergies, GERD, chronic postnasal drip)

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Tx for cough: Antitussives

suppress dry, hacking coughs; shouldn't be given when cough is productive and pt is bringing up mucous; use at night if cough keeps pt awake

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Tx for cough: Antihistamines and Decongestants

good for coughs a/w post-nasal drip

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Tx for cough: Expectorants

help break and bring up mucous

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Cough Pathogens

Rhinovirus, RSV, Influenza virus, Persussis, Measles

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Pertussis

aka: whooping cough; URI infx dt Bordetella pertussis; "whooping sound" when pt breathes in; vaccine has reduced deaths from 5-10,000/yr to <30

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Pertussis: Signs and Symptoms

first sx are similar to common cold (runny nose, sneezing, mild cough, low-grade fever)

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Clinical course of Pertussis

after 1-2wks (dry irritating cough evolves into coughing spells >1min and child may turn red/purple; at end of spell child makes "whoop" sound when breathing in or may vomit; btw spells child feels well; Younger children may just gasp and look red

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Atypical Pertussis

adults and adolescents may have milder symptoms, such as prolonged cough w/o spells or whoop...the effect of the vaccine doesn't last forever

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Measles (Rubeola)

1st symptoms: Irritability, runny nose, red light-sensitive eyes, hacking cough, fever upto 105F, Koplik's spots in mouth BEFORE best known sign: skin rash; worry about meningitis and febrile seizures

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Complications of Measles

Croup, bronchitis/bronchiolitis, pneumonia, conjunctivitis, myocarditis, hepatitis, encephalitis; inc susceptability to bacterial ear infxn or pneumonias; More severe in adults

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Measles Stages

incubation (10-12 days); Prodomal (2-4 days w/small vesicle Koplik spots); Final (Maculopapular rash...kids start to feel better)

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Measles/Rubeola 3Cs

Conjunctiva (inflammation & photophobia), Coryza (thick nasal discharge); Cough

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Measles: Contagiousness

90% of nonimmunized will get it; airborne spread; contagious from 5days after exposure to 5 days after rash appears; the quicker the detection, the faster resolution of pt to stop spread

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How are URIs (flu, RSV, SARS) spread?

coughing, sneezing, unclean hands

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Acute Otitis Media

80% of kids have one b/f 3yo; mc btw 6mo and 3yrs dt lack of immunologic factors (pneumococcal Ab) & anatomic angle of tube; landmarks on tympanic membrane are obliterated (red doesn't indicate infxn) you must see bulging membrane and blurred landmarks!!

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AOM Pathophysiology

usu complication of viral URI; secretions/inflam occlude eustachian tubes; effusion of middle ear allows growth; may perforate membrane or extend into mastoid air cells

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Kids with chronic otitis media and allergies

may have runny nose and gastric acid secretion (H1 and H2 responses)

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Presentation of AOM

earache, fever (not required for Dx); accompanying/preceding URI, dec hearing; In infants (they may be asymptomatic w/irritability as only sign); Serous OM (asymptomatic, dec hearing on audiometry)

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Conjunctivitis and AOM

close association btw bacterial infxn of both these locations; examine tympanic membrane if conjunctiva has purulent exudate; (sinusitis and purulent rhinitis frequently accompany AOM in infants/children)

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Microbes causing AOM

Pneumococcus sp., H. influenzae, Moraxella sp; (less common = Mycoplasma, viruses); 20% have sterile effusions

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Risk factors for AOM

daycare, bottle-feeding, smoking in home, male sex is predeterminant, fam Hx of middle ear disease, AOM in first year of life is risk factor for recurrent episodes

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Tx for AOM

infants <6mo (antibiotics); 6mo - 2yo (antibiotics w/diagnosis, otherwise observation); Kids >2yo (antibiotics for certain infxn, or observe)

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Where are the sinuses?

frontal, maxillary, ethmoid, mastoid

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Sinusitis

inflam/infxn of 1+ paranasal sinuses w/obstruction of normal drainage; acute (<3wks), subacute (3wks - 3mo); chronic (>3mo)

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Frequency of sinusitis

30million pts in US; URI is most common presenting signs in ED; viral a/w common cold is most frequent cause; difficult to differentiate from allergic rhinitis and simple URI

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Sinusitis and age

5-10% of URIs kids; 10% of URIs in adults; rare in children <1yo b/c sinuses are poorly developed

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Presentation of sinusitis

nonspecific; nasal congestion, purulent drainage, facial pain, HA; pain made worse w/forward positioning (retro-orbital pain if ethmoid siuns is involved); dental pain, alteration in smell

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Pediatric presentation of sinusitis

URI for 5-7days; by day 10 rhinoviral infxn impoves and worsening symptoms may indicate developing bacterial sinusitis; daytime cough and persistant nasal discharge (rare to have facial pain/HA in kids)

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Causes of Acute Sinusitis

bacterial: H. influenzae, S. pneumoniae (children: M. catarrhalis or S. aureus)

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Sinusitis: Imaging

Xrays (40% false-positives; mucosal thickening or air fluid levels may be seen); **CT (very sensitive; may overdiagnose; can't distinguish viral from bacterial); MRI (shows intracranial spread, not as good as CT for dx of acute cases)

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Sinusitis: Treatments

block inflammatory rxns; antibiotics to kill

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Allergic Rhinitis

seasonal symptoms, clear, watery anterior and posterior nasal discharge, sneezing, itchy eyes/nose

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Viral URI

dry mucosa of nose/throat, malaise, myalgias, occasional fever/chills

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Treatment for sinusitis, allergic rhinitis, viral URI

may get immediate relief from decongestant; wam compress to face; antihistamines, NSAIDs; antibiotic of choice; nasal spray (ex; Afrin); drink fluids; use humidifier/vaporizer to keep secretions moist; (return to Dr w/high fever, visual,vomit, lethargy)

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ENT consultation for:

all pts w/suspected CNS invasion or fungal infxns; consider for pts w/subacute or chronic sinusitis

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Complications of Acute Sinusitis

**intracranial extension resulting in septic cavernous thrombosis (eye buldging out);** chronic sinusitis, osteomyelitis, orbital cellulitis

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Pharyngitis: Signs and symptoms

sore throat, fever, HA, GI disturbance, pain on swallowing; neck hurts on sides or in front

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Pharyngitis: Causative agents

Group A beta hemolytic strep; Group C strep...and a whole bunch of weird ones

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Herpangina

caused by Coxsackievirus pharyngitis; small vesicles 1-2mm w/punched out ulcers in posterior pharynx; painful sore throat, fever, dec appetite; can travel down GI causing gastroenteritis

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Scarlett Fever

caused by GAS (strep pyrogenic exotoxins: **SPE-A**, B, C); erythematous sandpaper rash in axilla/cubital/popliteal/inguinal folds; sore throat; cervical lymphadenopathy (rash comes and sore throat goes; rash peels skin off fingers like glove)

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Epstein Barr Virus

a/w infectious mononucleosis (90%); fatigue, sore throat, generalized lymphadenopathy

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EBV (mono): Signs and Symptons

sore throat, tonsillar enlargement, exudates on tonsils, lymphadenopathy, splenomegaly, hepatomegaly (mild hepatitis), malaise, fever, nausea, abdominal pain, myalgia

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Tests for EBV:

Heterophile antibody test (mono spot test, sheep RBC agglutination); EBV antibody profile (IgA, IgM/IgG (acute phase)

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EBV and Cancer

Burkitt lymphoma (in african blacks); Nasopharyngeal carcinoma (southern chinese; San Fran/NY populations)

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Croup

URI; Sx worsen at night w/agitation and crying; barky cough (sounds like seal); horseness, inspiratory stridor, rhinorrhea, pharyngitis, fever; recovery in 3days; MANAGE airway (prefer sitting up in bed)!

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Epiglottitis: causative agents

usu 2-4 year olds; dt H. influenzae, Strep pyogenes, S. pneumoniae, Staph aureus

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Epiglotittis: Symptoms

high fever, sore throat, dyspnea, rapid progression of respiratory obstruction (drooling, hyperextension of neck, tripoding, cyanosis)

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Epiglottitis: Treatment

intubation, tracheotomy if necessary, antibiotics, respiratory support

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Pyloric Stenosis

most common intestinal obstruction in infancy; secondary to hypertrophy and hyperplasia of muscular layers of pylorus dt genetic and environmental factos; 4x more common in esp in 1st born males; presents w/projectile curdled vomit by 5months of life

🗑

Pyloric Stenosis: Pathophysiology

hypertropy/hyperplasia of circular/longitudinal pyloric muscle layers; narrowing of gastric antrum; long/thick/edematous pyloric canal makes stomach dilated

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Pyloric Stenosis: Physical Findings

epigastric distention w/ an "olive"; visible gastric peristalsis; diminished stool; poor skin turgor (dehydration); depressed fontanelles, dry membranes, dec tears, lethargy

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Pyloric Stenosis: Imaging

not needed if clinical presentation and olive are diagnostic; ultrasound is best b/c non-invasive; Upper GI imaging (UGI) - if ultrasound is nondiagnostic

🗑

Pyloric Stenosis: surgical repair

Rammstedt pyloromyotomy - reapproximate seromuscular layers

🗑

Biliary Atresia

failure of fetus to develop adequate path for bile to drain from liver to intestine; mc lethal liver disease in kids (1/10-15,000 live births); 50% of all liver transplants done for this reason!

🗑

Biliary Atresia: Diagnosis

persistant jaundice >14days w/clay-colored stool; blood tests confirm dx

🗑

Biliary Atresia: Treatment

Surgery is the only option; Liver transplantation, rerouting of biliary system (Kasai portoenterostomy)

🗑

Types of Biliary Atresia

Type 1 (3%; limited to common bile duct); Type 2 (6%; cyst in liver hilum communicating w/"hairy" intrahepatic bile ducts); Type 3 (19%; gallbladder, cystic duct and common bile duct patent); ***Type 4 (72%; complete extrahepatic biliary atresia)***

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Alpha-1 anti-trypsin deficiency

2nd mc cause of liver transplantation in infants; genetic deficiency of protease inhibitor; needed for lung fxn; deficiency causes dyspnea, liver damage (hepatitis, cirrhosis)

🗑

Alpha-1 anti-trypsin Deficiency: Signs and Symptoms

SOB during daily activity; liver disease presents early in life as hepatitis or neonatal jaundice; Can also present later in life as cirrhosis (scarring of liver) and primary cancer (hepatoma)

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A-1ATD: Treatment

liver transplant; protect lungs from effects of disorder (receive vaccines for flu/pneumonia, avoid respiratory irritants; stay fit w/regular exercise); take alpha-1 antitrypsin replacement therapy

🗑

Duodenum atresia

complete obliteration of duodenal lumen; failure to recanalize after development of hepatobiliary system; 50% born prematurely; polyhydraminos present in 40%; a/w trisomy 21

🗑

Congenital duodenal obstruction

duodenal atresia 40-60%, duodenal webs 35-45%, annular pancreas 10-30%; duodenal stenosis 7%-20%

🗑

Duodenal atresia: Morbidity/mortality

if left untreated, condition is rapidly fatal dt electrolyte loss and fluid imbalance

🗑

Duodenal Atresia: Preferred Exam

plain radiographs that show "double-bouble" appearance w/no distal gas are characteristic of atresia; distal bowel gas indicates stenosis, incomplete membrane or hepatopancreatic ductal anomaly; (ultrasound preferred if in combo w/esophageal atresia)

🗑

Esophageal Atresia

esophagus terminates in a blind pouch

🗑

Tracheal Esophageal Fistula

abnml connection in one or more places btw the esophagus and the trachea

🗑

EA and TEF

frequently occur in combination; 1/3-5,000 babies born with one or the other; 50% w/TE have another birth defect

🗑

TEF Symptoms

frothy white bubbles in mouth; coughing/choking when feeding; vomiting; blue color of skin (esp when feeding); difficulty breathing; very round/full abdomen

🗑

EA and TEF: Types

Most common: EA with distal TEF (86%); Pure atresia of esophagus; EA w/ proximal TEF; H-type fistula; EA w/proximal and distal TEF (very rare)

🗑

EA and TEF: CXR Findings

air-filled pouch representing prox esophagus; distention causes anterior displacement of trachea; air in GI tract indicates a distal TEF; insertion of feeding tube results in looping of tub in the proximal pouch

🗑

TEF: Presentation

1st sign is excessive neonatal drooling; regurgitation, choking, cyanosis upon feeding; overflow of pharyngeal secretions into trachea results in noisy breathing and progressive respiratory distress; mech ventilation may cause gastric rupture

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Intussusception

the leading proximal segment of bowel (intussuceptum) telescopes into the distal colon segment (intussuscipens); most common cause of intestinal blockage btw ages 3mo and 6yrs; Ileocolic (sm bowel into colon) is most common; 1-4/1000 live births M3x>F

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Intussusception: Pathology

there may be a leading edge in the form of a polyp, inverted appendiceal stump, Meckel's diverticulum or tumor that gets caught in downstream peristalsis and is pulled into distal bowel; (viruses thought to induce hyperplasia of Peyer's patches in ileum)

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Intussuseption: Outcome

mesentery is compressed; bowel wall swells and leads to obstruction; venous engorgement and ischemia of intestinal mucosa causes bleeding and mucous flow resulting in "red currant jelly" stools

🗑

Intussusception: Morbidity/Mortality

most recover if treated in 24hrs; if untreated death can occur in 2-5days; recurrence in up to 11% (usu if reduced by contrast edema)

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Intussusception: History

previously healthy boy 6-12mo w/sudden onset of colicky abdominal pain/vomiting 10-20min apart; loos watery stools w/vomit, and w/in 24hrs blood or mucous passed rectally; **TRIAD: Colicky abdominal pain, Vomiting, Red Currant Jelly Stools (21%)**

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Intussuception: Physical

abdomen soft and nontender early, but distended and tender later; vertical oriented mass in URQ; 50% have red current jelly stools; 75% w/o obvious blood in stools test positive for occult blood; fever is late finding suggestive of enteric sepsis

🗑

Intussusception: Imaging

contrast enema; plain Xray (will be normal early on), **ultrasound useful in diagnosing

🗑

Abused child

suspected abuse, establish dx, treat injuries, address safety issues, report to agencies, document findings, recommend follow-up treatment; **ensure safety of child

🗑

Child Abuse: Pathophysiology

overlapping categories: physical, sexual, phychological abuse and neglect; each has unique characteristics and requires individual approaches to diagnosis and managment

🗑

Physical abuse

viewed as a spectrum of injuries; inflicted minor bruises/lacerations to severe multisystem trauma and death; (hitting, punching, biting, beating, kicking, shaking, burning, etc; may be from physical punishment); intent of abuser is not relevant to Dx

🗑

Frequency of Child Abuse

>3million reports made each year to child protective services; 1.4 million kids victimized/yr; 160,000 suffer from serious or life-threatening injuries; ~1200 children die each year from abusive injuries or neglect

🗑

Morbidity and mortality of Child Abuse

obvious physical sequelae (death, traumatic brain injury, disfigurement); long-term mental health consequences (violence, criminal behavior, substance abuse, self-injurous, suicidal, depression, anxiety, others; can abuse own children later in life)

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Child Abuse: Race/Sex/Age

affects children of all ethnic grps in all socioeconomic statuses; although female victims are more commonly reported for sexual abuse there is no sex predominence; abuse can occur at any age

🗑

Child abuse age pattern

Infants (more vulnerable to fatal head trauma); Toddlers (more vulnerable to fatal abdominal trauma); school aged children (abuse usually decreases); adolescents (abuse increases)

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Important concepts for interviewing about child abuse

interview everyone separately, including kids; use open-ended, non-leading questions esp w/younger kids; inquire about physical abuse, sexual abuse, domestic violence and witnessed abuse

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Historical characteristics of abusive injuries

unexplaind or poorly explained injuries; injuries compatable w/stated history; changing history; significant delay in seeking treatment

🗑

Presentation of physical abuse

usu an obvious injury; it is not uncommon though to see abused child present w/symptoms of occult injury (ex: head or abdominal trauma)

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Shaken Baby Syndrome

infant head injury symptoms (lethargy, irritability, persistant unexplained vomiting, apnea, coma, convulsions)

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Abdominal trauma in child abuse

Symptoms are secondary to perforation, obstruction or bleeding (vomiting, pain, tenderness, shock, sepsis)

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Physical characteristics of abusive injuries

injuries in various stages of healing; multiplanar injuries (back and front, left and right side together); injuries w/obvious pattern from hand or object; assault-like locations (trunk, upper arms/legs, neck, face, perineal area); whip/belt marks

🗑

Typical bruising patterns for ambulating children

knees, shins, forearms, forehead and chin, bony prominences (elbow, hips, spine)

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Child Abuse: Burns/Scalding

can be from iron, cigarette, ***hot water emersion (not accidental - typically bilateral and symmetrical w/well-demarcated lines w/o splash marks); Differentiate inflicted burns from impetigo (a superficial yellow-crustlesion w/satellite lesions)

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Child Abuse: Fractures

30% of childhood fractures are inflicted; in children <1yo, 75% of fractures are inflicted

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Abuse Fracture Categories: Highly specific

metaphyseal fractures (bucket handle); posterior rib fx, scapular fx, SP fx, sternal fx

🗑

Abuse Fracture Categories: Moderately specific

multiple fractures (esp if bilat); fx of different ages; epiphyseal separations; vertebral body fx; digital fx; complex skull fx

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Abuse Fracture Categories: Common, low-specificity

clavicle fx, long bone shaft fx, linear skull fx

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Moderate and low specificity fx become highly specific when:

a credible hx of accidental trauma is absent, esp in infants

🗑

Child Abuse: Inflicted Head Trauma

subgaleal hematomas, skull fx, subarachnoid hemorrhages, subdural hematomas, parenchymal brain injuries; unexplained severe diffuse brain trauma can be presumed inflicted (*epidural hematomas usu from accidental falls)

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Presentaion of abused head injuries

acute critical illness at time of presentation (unresponsiveness, apnea, bradycardia, seizures, cardiopulmonary arrest); Subtle subacute or chronic symptoms (vomiting, lethargy, irritability, inc head circumference); there may be no visible trauma

🗑

Shaken baby syndrome

usu dt violent shaking & impact of head on fixed surface (**retinal hemorrhages, intracranial trauma (**subdural hemorrhage), diffuse axonal injury, secondary cerebral edema, fx of post/anterolateral ribs or metaphyses of tibia/humerus)

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Shock in abused children

usu dt occult blood loss, dehydration, toxins, CNS dysfxn, external loss from lacerations/burns or infxn (ex: ruptured small bowel resulting in peritonitis)

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Opthalmic Traumas: Hyphema

can be caused by the receptacles end of an extension cord used as a whip to strike the eye

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Head Trauma: Extracranial bleeds

dt hairpulling; tearing of superficial temporals

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Causes of Child Abuse

combo of factors (individual, family, social; triggered by caring for high-risk child esp if mentally, tempormentally or behaviorally difficult); poverty, unemployment, excessive mobility, isolation, domestic violence, attachment prob, bad parenting skill

🗑

Parent stressors causing child abuse

low self-esteem, abused as kids themselves, depression, substance abuse, character disorders, unrealistic expectations of child

🗑

Child abuse triggering situations

discipline, argument/family conflict; substance abuse; acute envirnomental problems

🗑

Child Abuse DOA vs SIDS

SIDS is a diagnosis of exclusion, requiring a complete autopsy and death scene investigation; you must involve expeditious consultation w/child protective services; don't acuse parents

🗑

When a practitioner suspects child abuse:

report immediately to state agency before child is discharged; notify parents that a report has been filed (exception to this rule is if cargiver may flee w/o child or cause significant disruption)

🗑

Child Abuse: Sexual - physical complaints

foreign bodies; GU pain, painful defecation/urination, discharge/bleeding/itching, vaginal-anal fistula, grasp or rope marks, oral complaints, STDs, possible pregnacy; General somatic complaints (HA, abdominal pain, constip, diarrhea, fatigue), incest

🗑

Child Neglect and Phsychosocial Short Stature (PSS)

disorder of growth failure and/or delayed puberty a/w emotional deprivation and/or a pathologic phychosocial environment; a disturbed relationship btw child and caretaker usu exists

🗑

Child Neglect Problems

psychosocial short stature, developmental delay, dwarfism, FTT, underweight, undernourished, starvation

🗑

Type I PSS

onset in infancy; FTT, no bizarre behavior; pts depressed; normal GH secretion; no Hx of parental rejection

🗑

Type II PSS

onset at 3yrs or older; some have FTT; bizarre behaviors and depression; dec/absent GH secretion w/minimal responsiveness to GH; Hx of parental rejection or pathology

🗑

Type III PSS

onset in infancy or older; No FTT; No bizarre behavior; GH secretion is normal w/significant response to GH; No hx of parental rejection

🗑

Psychosocial Dwarfism

bizarre behaviors (centered on food and water acquisition despite seemingly adequate caloric/food intake); hoarding food, gorging, vomiting, eating from garbage bin, drinking from toilet, stealing food; Sleep disturbances (insomnia, night wandering)

🗑

Psychosocial Dwarfism: abnormal behaviors and developmental delay

withdrawal, apathy, anxiety, irritablity, temper tantrums, shyness, accident prone, self-injury; speech retardation, congnitive retardation, psychomotor retardation

🗑

Type II PSS

abnormal endocrine function present; It will NORMALIZE if child is removed from unsafe/non-nurturing environment; malnutrition/inadequate caloric intake is not only reason for growth failure; Steatorrhea is common, though; Dx is made after child moves

🗑

Emotional Neglect

child may have dull "vacant" stare and signs of poor hygiene, pallor suggestive of anemia

🗑

SCAN: Morbidity and Mortality

abuse and neglect account for 5-14% of all child deaths; 1400 fatalities/yr w/43% in kids <1yr; SBS is leading cause of death in kids <4yrs; All 50 states have mandatory reporting for child abuse!

🗑

Tanner Stages of Male Puberty

Pubic Hair (none, scant, coarse, adult); Penis (preadolescent, slight enlargement, inc length, inc breadth, adult); Testes (preadolescent, slight growth, further, further, adult)

🗑

Tanner Stages for Female Puberty

Breast (no breast tissue, breast bud, enlargement, separation of areola/nipple from breast contour, adult w/only nipple raised); Pubic hair (none, sparse, curly, thick, adult inverted triangle)

🗑

Male Puberty

document Tanner stages 1-5; 1st change w/testes ~11yo; Growth sput a/w Tanner 4 ~14yo (4in.&20lbs/yr); spermarch, acne, axillary sweat, facial hair voice change all completed btw 14.5 and 18yrs

🗑

Female Puberty

thelarche (breast buds) ~10; Growth spurt ~12 bf menarche (3in,&17.5lbs/yr); acne, sweat, axillary hair, full development btw 12.5 and 18

🗑

Menarche

on average occurs at 12.7, black girls are earlier, great variability can start before 10 or as late as 15+; Overweight girls start earlier; Thin athletes later; Genetics play role...when did mom start?

🗑

Growth after first period

menses usu signals near completion of pubertal spurt; most girls only grow 1-4 in after first period (early maturing girls have more growth left at menarche than late-matureing girls)

🗑

Delayed Puberty

can be dt constinution delay or Gonadodysfunction (Males - Kleinfelter; Female - Turner)

🗑

Constitutional Delay

usu normal size at birth w/dec height/wt velocity in 3-6mo until 2-3 yrs; During childhood they grow along lower percentiles on growth curve below 3rd percentile

🗑

Constitutional Delay and Puberty

dt timing of onset puberty, pubertal growth spurt and epiphyseal fusion are determined by a child's skeletal age (biologica age); these kids are "late bloomers"

🗑

Constitutional Delay and Skeletal age

determined from xrays of left hand/wrist is usu delayed 2-4yrs by late childhood (consistant w/child's height not chronological age)

🗑

Kleinfelter Syndrome

47, XXY; mc chrom disorder a/w male hypogonadism and infertility; enlarged breasts, sparse facial/body hair, small testes, no sperm; 1/500-1000; 5-20x higher in MR;

🗑

Kleinfelter: Symptoms

usu diagnosed in adulthood dt hypogonadism and gynecomastia (fatigue, weakness, erectile dysfxn, osteoporosis, language impairment, academic difficulty, subnormal libido, poor self-esteem, behavior problems

🗑

Kleinfelter: Growth

normal through childhood; height velocity inc by age 5, adult height is usu taller than average w/long arms and legs; (variants w/49, XXXXXY are short)

🗑

Klinefelter: CNS

usu normal intellegence; MR is a/w # of Xs; 70% minor dev delays/learning disabilities; behavioral probs dt poor self-esteem & psychosocial dev or dec ability to deal w/stress; psychiatric disorders (anxiety, depression, neurosis, psychosis >>> gen pop)

🗑

Klinefelter: Sexual Characteristics

lack of 2* characteristics dt dec androgen production (sparse body hair, high voice, female fat distribution); 50% w/gynecomastia in late puberty (elevated estradiol; inc risk for breast carcinoma); Testicular dysgenesis; Infertile (inc extragonad tumors)

🗑

Klinefelter: Cardiac and Circulatory Problems

mitral valve prolapse in 55%; vericose veins 20-40%; venous ulcers 10-20x > normal, risk of DVT and pulmonary embolisms

🗑

Klinefelter: Variants

inc #s of Xs inc MR and dec growth stature

🗑

Klinefelter: causes

50-60% dt maternal nondisjunction (75% meiosis I errors); Most common karyotye is 47, XXY; mosaicism is observed 46XY, 47XXY in 10%; others have up to 49XXXXY and are rare

🗑

Turner Syndrome

>95% of adult women w/this chromosome abnormality exhibit short stature and infertility; dt 45X karypotype (mostly no paternal X); 46XXiq; mosaics; 1/2000 live births (15% of spontaneous abortions are 45X)

🗑

Leri-Weill Dyschondrosteosis

dt deletion of SHOX gene; causes similar skeletal phenotype to Turner's syndrome

🗑

Turner Syndrome: Morbidity/Mortality

inc in neonatal period dt coarctation of aorta and in adulthood dt CV disease (aortic dissection); Obesity a/w diabetes, hypertension; Life expectancy reduced by 10yrs; Osteoporosis; Renal and UTIs; Prophylax for subacute bacterial enteritis

🗑

Noonan Syndrome

normal karyotypes; looks similar to Turner; unusual facies (hypertelorism, down-slanting eyes, webbed neck); 50% congenital heart disease, short, chest deformity; 25% MR

🗑

Primary Amenorrhea

absence of menses by 14 w/no secondayr sex traits OR no period w/normal secondary sex traits by 16

🗑

Secondary Amenorrhea

cessation of menstruation for >6months or for at least 3 of th previous 3 cycle intervals

🗑

Dx a/w Primary Amenorrhea

vaginal agenesis, androgen insensitivity syndrome (10%), Turner syndrome

🗑

Androgen Insensitivity Syndrome

X-linked recessive; failure of normal masculinization of external genitals in chromosomally male babies; complete vs partial depends on residual receptor fxn

🗑

Androgen Insensitivity Syndrome: Pathophysiology

loss of function mutation of androgen receptor (AR) gene; There are still normal androgen levels, but postreceptor events don't happen (lack of pubic/axillary hair, acne, voice change at puberty)

🗑

AIS: Morbidity and Mortality

risk for gonadoblastoma of testes; psychological morbidity esp phenotypic females who discover they are males have psychosocial probs w/gender perception even in medical field

🗑

AIS: Sex vs Gender

most have female gender due to assignment and upbringing before diagnosis is made

🗑

AIS: Presentation

inguinal masses that turn out to be testes during surgery; clitoral enlargement at puberty; Pelvic ultrasound is useful

🗑

AIS: Lab

karyotype; levels of DHT, testosterone, DHEA

🗑

AIS: Treatment

Hormone replacement therapy and Psychological support; Surgical care is controversial (remove testes; vaginal lengthening, breasts)

🗑

Precocious Puberty

onset of 2* sex traits bf 8yrs in girls and 9yrs in boys; Gonadotropin-dependent (true or central Precocious puberty) vs. Gonadotropin-Independent (peripheral precocious puberty of precocious pseudopuberty)

🗑

True Precocious Puberty

isosexual and stem from hypothalamus-pituitary-gonadal activation; Gonadotropin mediated inc in size and activity of gonads leads to sec hormone secretion and progressive maturation

🗑

Precocious Pseudopuberty

some 2* sex traits appear w/o activation of hypothalamus-pituitary-gonadal axis; may be isosexual or heterosexual (contrasexual)

🗑

Problems a/w Precocious Puberty

early growth spurt and rapid bone maturation cause short adult stature; appearance of breasts/menses and inc libido may cause emotional distress in some kids

🗑

Premature Thelarche and Adrenarche

more common than "true PP;" These are isolated breast development bf 3yo and pubic hair bf 7-8yo

🗑

Premature Pubarche

pubic and/or axillary hair and odor w/o other signs of puberty bf 7 in whites/6 in blacks; **signs of severe androgen excess: clitoral enlargement, growth & acne may lead to dx of congen adrenal hyperplasia); exposure to exog sex hormones?

🗑

Congenital Percocious Puberty: Tx

GnRH agonists; follow up to ensure that puberty progression is arrested; monitor bone age

🗑

Congenital Percocious Puberty: Prognosis

w/treatment there is significant height improvement

🗑

CPP: Rx - GnRH agonists

long-acting synthetic derivatives of GnRH suppress pituitary production of gonadotropins

🗑

CPP: Rx - Leuprolide acetate (Lupron, Lupron Depot-Ped)

suppress ovarian and testicular steroidogenesis by dec LH and FSH levels; stop treatment at age 10

🗑

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