+ pediatrics rotation and shelf review nicholaus josey
TRANSCRIPT
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Pediatrics Rotation and Shelf Review Nicholaus Josey
+Genetic Disease & Syndromes
Down’s Syndrome Trisomy 21
Decreased tone
Oblique palpebral fissures
Simian crease
Large tongue
Mental retardation
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+Genetic Disease & Syndromes
Down’s Syndrome
Common medical complications
VSD and Endocardial cushion defects
Hirschsprung’s
Annular pancreas
Intestinal atresia
Atlanto-Axial instability
Increased risk of Alzheimer’s
ALL
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+Genetic Disease & Syndromes
Edward’s Syndrome
Trisomy 18
Omphalocele
Rocker-bottom feet
Hammer toe
Microcephaly
Clenched hands
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+Genetic Disease & Syndromes
Patau’s Syndrome Trisomy 13
HoloProsencephaly
Severe Mental Retardation
Microcephaly
Cleft Lip and Palate
Polydactyly
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+Genetic Disease & Syndromes
Turner’s Syndrome 45 XO
Female with no breast development
Shield chest and short stature
Webbed neck
Streak Ovaries
Coarctation of the Aorta and Bicuspid Aortic Valve
High FSH
Tx:
Estrogen replacement
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+Genetic Disease & Syndromes
Klinefelter’s Syndrome 47 XXY
Tall and lanky male
Mild Mental Retardation
Gynecomastia with hypogonadism
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+Genetic Disease & Syndromes
Neurofibromatosis Type 1 Autosomal Dominant
Café-au-lait spots
Seizures
Macrocephaly
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+Genetic Disease & Syndromes
Smith-Magenis Syndrome Deletion on chromosome 17
Broad and square face
Short stature
Self-injurious behavior
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+Genetic Disease & Syndromes
AngelMan Syndrome
Deletion on Maternal chromosome 15
3 S’s
Seizures
Strabismus
Sociable infant with inappropriate laughter
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+Genetic Disease & Syndromes
Prader-Willi Syndrome
Deletion on Paternal chromosome 15
3 H’s
Hypotonia
Hypogonadism
Hyperphagia
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+Genetic Disease & Syndromes
Cornelia de Lange Syndrome IUGR
Hypertonia
Limb malformations
Distinctive facial features
Hyperactive
Self-injurious
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+Genetic Disease & Syndromes
Fragile X Syndrome Most common type of Mental Retardation in boys
CGG Repeats
Macrocephaly
Macro-orchidism
Large ears
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+Genetic Disease Review
Down’s Syndrome (Trisomy 21) Mental retardation VSD and Endocardial cushion defects Hirschsprung’s Intestinal atresia Increased risk of Alzheimer’s and ALL
Edward’s Syndrome (Trisomy 18) Omphalocele Rocker-bottom feet Microcephaly Clenched hands
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+Genetic Disease Review
Patau’s Syndrome (Trisomy 13) HoloProsencephaly Cleft Lip and Palate Polydactyly
Turner’s Syndrome (45 XO) Female with no breast development Shield chest and short stature Streak Ovaries Coarctation of the Aorta and Bicuspid Aortic
Valve
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+Genetic Disease Review
Klinefelter’s Syndrome (47 XXY) Tall and lanky male Gynecomastia with hypogonadism
Neurofibromatosis Type 1 Autosomal Dominant Café-au-lait spots Seizures Macrocephaly
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+Genetic Disease Review
Smith-Magenis Syndrome Deletion on chromosome 17
Broad and square face
Self-injurious behavior
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+Genetic Disease Review
AngelMan Syndrome Deletion on Maternal chromosome 15
3 S’s Seizures Strabismus Sociable infant with inappropriate laughter
Prader-Willi Syndrome Deletion on Paternal chromosome 15
3 H’s Hypotonia Hypogonadism Hyperphagia
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+Genetic Disease Review
Cornelia de Lange Syndrome IUGR Distinctive facial features Self-injurious
Fragile X Syndrome Most common type of Mental Retardation in boys CGG Repeats demonstrating anticipation
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+Growth and Development
Nutrition Newborns lose 10% of their birth weight in 1st week…
Double birth weight at 6 months
Triple birth weight at 1 year
Breast milk and formula both contain:
20 kcal/ounce
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+Growth and Development
Nutrition
Benefits of breast feeding
Improved maternal/baby bonding
Transfer of protective maternal IgA
antibodies
Reduced cost and hassle
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+Growth and Development
Nutrition
Contraindications to breast feeding
Galactosemia
PKU
HIV
HSV of the breast
Chemotherapy
Lithium
Iodide
Alcohol
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+Growth and Development
Abnormal Growth
Constitutional Growth Delay
Bone age is less than real age
Likely to have normal final height
Parents were both late bloomers
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+Growth and Development
Abnormal Growth
Familial Short Stature
Bone age is equal to real age
Parents are both short
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+Growth and Development
Abnormal Growth
Obesity
Bone age is greater than real age
Excess weight slows vertical height development
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+Growth and Development
Abnormal Growth Pathological Short Stature
Child starts on a normal growth curve
Declines to around 5% height for age
Consider:
Craniopharyngioma
Hypothyroidism
Hypopituitarism
Turner’s Syndrome
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+Growth and Development
Growth
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+Growth and Development
Development
al Milestones
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+Growth and Development
Potty Training Children achieve Urinary Continence by:
5 years
Medical causes of incontinence include:
UTI
Constipation
Diabetes
Tx of enuresis:
First line = Behavioral
Second line= DDAVP
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+Growth and Development
Potty Training Children achieve Fecal Continence by:
4 years
Most common cause of incontinence:
Constipation
Fecal retention
Tx:
Disimpaction
Stool softeners
High fiber diet
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+Growth and Development
Immunizations
Due at Birth:
HepB
But what if mom is HbsAg+
HepB IVIG and Vaccine are given
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+Growth and Development
Immunizations
Due at 2, 4 and 6 months:
HepB
Rotavirus
DTaP
HiB
PCV
IPV
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+Growth and Development
Immunizations Starting at 6 months and then yearly:
Influenza
Due at 12 months:
MMR
Varicella
HepA
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+Growth and Development
Immunizations Due before age 2:
DTaP
2nd HepA
Due before kindergarten:
Last IPV
DTaP
MMR
Varicella
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+Growth and Development
Immunization Summary Hep B = 3
DTaP = 5
Hib = 4
IPV = 4
Varicella = 2
PCV= 5
Hep A = 2
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+Growth and Development
Immunization Summary
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