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74 Cards in this Set
- Front
- Back
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What does a Newborn screening test consist of?
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Pin prick on the heal
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What are the Oklahoma NBS tests?
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Phenylketonuria (PKU)
Congenital Hypothyroidism (CH) Galactosemia Hemoglobinopathy, Sickle Cell Disease Congenital Adrenal Hyperplasia Medium-chain Acyl-CoA Dehydrogenase Deficiency Cystic Fibrosis |
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Is the newborn test time sensitive?
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Yes, NBS test should be done after 24 hours of age or it will have to be done again in 2 weeks
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What is phenylketonuria?
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Autosomal recessive disorder that causes a decrease in phenylalanine hydrolase activity
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What amino acid is low due to PKU?
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Tyrosine
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What race is PKU most prevalent in? How common is it?
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Irish
rare disease |
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What are some signs and symptoms of PKU?
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Severe Mental retardation
Hyperactivity/spastic Seizures Eczema and light skin ** Urine has "mousey odor" ** |
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What will be the lab results for PKU?
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Phenylalanine to tyrosine ratio increase
Tyrosine decreased |
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What the main treatment for PKU?
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Dietary restriction of phenylalaine
- Fish, Eggs, chocolate |
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What follow up should occur during the first year with PKU?
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Regular visits to treatment centers
Weekly Phe & Tyr levels for the 1st month Biweekly to triweekly levels for the 1st 2 years of life (goal: Phe at <6mg/dL) |
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What is the most common neonatal metabolic disorder?
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Congenital Hypothyroidism
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What is the number 1 most preventable cause of mental retardation?
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Congenital Hypothyroidism
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What should the diagnosis of Congenital Hypothyroidism be based on?
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Newborn screening not abnormal physical findings
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Why are newborns with congenital hypothyroidism normal for 3-4 months after birth?
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Still protected by maternal thyroid hormone
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What are signs and symptoms of congenital hypothyroidism?
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*Mental retardation* (IQ < or = 80)
Poor growth Large tongue, hoarse cry Puffy face, goiter Bradycardia, constipation, lethargy |
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What hormones are significant to the lab results?
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Decreased serum T4 (Thyroxine)
Increased TSH (Thyroid stimulating hormone) |
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What is the treatment of congenital hypothyroidism?
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Levothyroxine started in 1st week of life
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What is Galactosemia and what enzyme does it effect?
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Autosomal recessive disorder that causes a deficients in (GALT) Galatose-1-phosphate uridyl transferase
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What are signs and symptoms of galactosemia?
What happens if untreated? |
vomiting, lethargy,
jaundice, hepatosplenomegaly, Brain damage cataracts, failure to thrive (FTT) Baby will die w/in 1st month |
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What is the organism can cause sepsis in Galactosemia?
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MC - E. coli
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What is significant in labs for Galactosemia?
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Plasma galactose = high
RBC galactose-1-phosphate = high Galactose-1-phosphate uridyl transferase = low |
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What does Galactosemia do to the liver?
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Cause liver dysfunction
- Elevated conjugated and unconjugated bilirubin - Elevated LFTs - Coagulopathy (tendency to bleed/prolong bleeding) |
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What is the treatment for Galactosemia?
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Galactose/lactose free diet
MC = soy formula Calcium supplement |
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What is sickle cell disease?
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Autosomal recessive disorder of hemoglobin
Substitution of valine for glutamine on beta globin chain Altered Hemoglobin structure |
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Two gene abnormalities can cause how many major types of sickle cell disease?
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3 major types:
HgbSS (sickle cell disease) HgbSC HgbS-beta thalassemia |
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In what race is sickle cell disease most prevalent?
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African American
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What is the most common initial symptom of sickle cell disease?
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Dactylitis (Cold blue hands/fingers/extremities, painful too)
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When are symptoms of Sickle cell disease evident?
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6 mos of age because HbF decreases
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What happens due to sickling of RBC? and how do they present?
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Vasoocclusive events
Dactylitis Aseptic necrosis Leg ulcers Priapism (erect penis that doesn't return to normal flaccid state) CVA – Stroke very common by 45 yro Acute Chest Syndrome |
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What major complications of sickle cell anemia?
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Acute Chest Syndrome
Aplastic crises Sepsis (from encapsulated streptococcus) |
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What is the treatment for Sickle cell anemia/hemoglobinopathies?
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Prophylactic Penicillin and pneumococcal vaccine at age 2-5
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What is the dosage for prophylactic penicillin treatment of Sickle cell anemia/hemoglobinopathies?
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125mg BID by 2months of age
250mg BID starting age 2 until 5 May consider DC of prophylaxis at age 5 |
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What is the most common cause of death in Children Sickle cell anemia/hemoglobinopathies?
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Children - respiratory infection
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How do you treat febrile illness in Sickle cell anemia/hemoglobinopathies?
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Admit
Blood culture Broad-spec parenteral antibiotics |
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What is congenital adrenal hyperplasia?
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Autosomal recessive disorder that causes a deficiency of 21-hydroxylase
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A deficiency in Congenital Adrenal Hyperplasia leads to what?
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Increased production sex hormones (testosterone androstenedione, DHEA)
Decreased Cortisol and Aldosterone |
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What are clinical features of Congenital adrenal hyperplasia?
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Masculinization of female genitalia
Early virilization in boys Early accelerated skeletal growth Excessive skin pigmentation |
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What is common in severe cases during weeks 2-4 of life?
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Salt-losing crisis due to low aldosterone
- Hypovolemia - Hyponatremia - Hyperkalemia |
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How do you treat Congenital adrenal hyperplasia?
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Glucocorticoids and mineralcorticoids
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What causes Medium Chain Acyl-CoA dehydrogenase deficiency?
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Fatty acid oxidation disorder
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What are clinical manifestation of Medium Chain Acyl-CoA dehydrogenase deficiency?
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Store fat, but cannot use it:
- Hypoketotic hypoglycemia - Hyperammonemia - Hepatomegaly - Splenomegaly - SIDS? |
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How do you manage Medium Chain Acyl-CoA dehydrogenase deficiency
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No treatment
Prevent hypoglycemia (don't go long w/o food <10-12 hrs) |
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What is Cystic Fibrosis?
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Autosomal Recessive disorder of exocrine glands due to Chloride channel dysfunction
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How would you manage cystic fibrosis?
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pancreatic enzyme replacement
fat soluble vitamins bronchodilator therapy tx of lung infections |
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Why is it important to screen newborns for hearing?
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Normal hearing is essential for language development and with early intervention = better language and social development
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What is the leading cause of infant mortality?
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Birth defects
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What is the most common chromosomal abnormality among live births?
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Trisomy 21 (Down Syndrome)
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What age of women have a higher prevalence of Trisomy 21?
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>35 yro
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What are clinical features of down syndrome facies?
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Flat facies with low set eyes and small ears
Upward slanting eyes Brushfield spots in eyes Different color eyes (heterochromia) |
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What are clinical features of down syndrome that do not involve the facies?
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Simian Creases (prominent crease across palm)
Short fingers *Atrial Septal defect Hypotonia/delayed motor skills |
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What is the management of down syndrome?
(Not treatment but clinical exams/test) |
TSH - yearly
Audiology - every visit High risk for Otitis media Cardiology - septal defect Ophthalmology |
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What is the genetic sex in Klinefelter's syndrome?
What is it associated with? |
XXY
Advanced maternal age >35 |
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What are non-sex characteristic clinical features of Klinefelter's Syndrome?
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Initially tall, thin and long limbs --> become obese adults
Scoliosis Ataxia Mild developmental delay |
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What are sex characteristic features of Klinefelter's Syndrome? What do they depend on?
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Small penis
Hypogonadism (decreased testosterone) Gynecomastia Scant pubic hair Infertility Depends on number of x-chromosomes |
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What is the most common cause of mental retardation in males?
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Fragile X syndrome
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What are physical features of fragile x syndrome?
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Blue eyes, blond hair
*Long narrow face *Large protruding ears, jaw Flat feet Hyperextendible fingers |
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What are sex and non-sex clinical features of fragile x syndrome?
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Prepubertal large gonads
Moderate-severe mental retardation Disorganized speech, hyperactive Mitral valve prolapse |
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How do you manage fragile x syndrome?
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Physical, occupational, and speech therapy
Neurologist Cardiologist (mitral valve prolapse) |
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What sex does Turner's syndrome (monosomy x) present?
What is monosomy x? |
ONLY Females
Missing or partially missing X chromosome |
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What are physical clinical features of Turners syndrome?
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Short stature/square/broad chest
Webbed neck Prominent ears Triangular facies |
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What are common characteristics of Turners syndrome?
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Hearing impairment
Visual/spatial disability Absence of secondary sex characteristics Cognitive deficits (WNL) |
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What are common cardiac characteristics of Turner's syndrome?
Kidney? |
Coarctation of the aorta
Aortic stenosis Horseshoe kidney |
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What chromosome is abnormal in beckwith-wiedmann syndrome?
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Chromosome 11p15
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What are clinical features of beckwith-wiedmann syndrome?
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*Macrosomia (large body)
Hypoglycemia during infancy Asymmetrical limbs Organomegaly *Macroglossia *Omphalocele |
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What should be checked for frequently in beckwith-weidmann syndrome? How frequent?
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High risk for Wilm's tumor and hepatoblastoma
Screen for malignancy every 3 years until 7 yro |
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What is prader-willi syndrome associated with?
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chromosome 15q11
and Growth hormone deficiency |
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What are common clinical features for Prader-Willi Syndrome?
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Almond-shaped eyes
Short stature Polyphagia with eventual obesity, “insatiable appetite”, develops around age 2 - 4 |
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What are neurological clinical features of Prader-Willi syndrome?
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Mental retardation
Strabismus Hypotonia |
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What are complications of Prader-Willi syndrome?
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Diabetes
Pickwickian syndrome |
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How do you manage Prader-Willi syndrome?
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Geneticist
Endocrinologist Nutritionist Ophthalmologist |
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What chromosome is affected in Angelman's syndrome? When is it usually diagnosed?
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Chromosome 15
Ages 3-7 |
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What are common social features of angleman's syndrome?
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Paroxysmal laughter
Excessive happiness Poor language skill developmental delays |
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What are physical exam features of Angleman's Syndrome?
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Severe retardation
Seizure Tongue thrusting **Abnormal gait "puppet-like" Strabismus Prognathism (protrusion of mandible) |
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How do you manage angleman's syndrome?
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Neurologist
Orthopedist (gait) Physical, Occupational, Speech therapy |
