Friday, August 16, 2013

1. Still's murmur: a type of functional, benign murmur. Very common in children. Heard best at LLSB, louder when the kid is supine. Less than 3/6. Musical in quality (i.e. higher pitched than a rumbling, low-pitched murmur, and lower-pitched than a high-pitched, harsh blowing murmur). Generally have an ejection-type sound, crescendo-decrescendo. Thought to be due to vibrations of valve attachements/chordae.
2. Systolic murmurs are present in up to 60% of people, up to 90% of which are associated with normal findings on echo. A mid-systolic murmur should be regarded as innocent not based on the loudness or duration of the murmur, but on the presence of other signs-- additional heart sounds, abnormalities in S2, clinical symptoms-- SOB, dizziness, syncope, cyanosis, family history of structural heart conditions.
3. Physiologic pulmonary artery stenosis: another functional murmur. Usually II/VI, mid-systolic, best heard at ULSB, can radiate to axilla or back or entire precordium. Common benign finding in infants 2 weeks to 6 months of age, more common in low-birthweight kids since they have smaller pulmonary arteries. Caused by physiological small size of pulmonary arteries leading to increased turbulence of blood flow leading to murmur. Totally benign, the kids grow out of it. A study done in Japan (1996) compared 25 term, low-birthweight infants with PPS and 25 term, low-birthweight without and found no difference in main pulmonary artery velocities, but a significant difference (like twice as high) in the pulmonary branches.  http://www.ncbi.nlm.nih.gov/pubmed/8724652
4. Beckwith-Wiedemann Syndrome: overgrowth syndrome, commonly associated with hemihyperplasia, abdominal wall defects, transient hypoglycemia in newborns that resolves on its own, ear pits/creases, and increased risk of malignancy. Annual screens should be done to monitor for the development of tumors: blood AFP/HCG (germ cell), urine VMA/HVA (neuroblastoma), and u/s (wilms).
5. Prader-Willi: an imprinting disorder of chromosome 15. Loss of paternal or uniparental disomy of maternal chromosomes. Kids are born with severe hypotonia (more so than in trisomy 21) leading to poor suck and failure to thrive; they might need a g-tube for feeding. Around age 1, the hyperphagia sets in (can last until age 8-10) leading to obesity. Associated mild-moderate intellectual disability, brachydactyly, hypogondadism.
6. Angelman Syndrome: imprinting disorder of chromosome 15, loss of maternal or UPD of paternal. Associated with seizure disorders (80-90% prevalence), laughing, stereotyped/jerky movements, moderate-severe intellectual disability. Fair hair, macrognathia.
7. Patau Syndrome/Trisomy 13: midline defects. Holoprosencephaly, micrognathia, b/l cleft lip/palate, omphalocele. Polydactyly, deafness, cubis aplasia. 80% mortality in first month.
8. Edwards Syndrome/Trisomy 18: associated with hypertonia at birth (CP presents later), polydactyly, overlapping fingers, micrognathia, cardiac defects (VSD, PDA), horseshoe kidney, ectopic pancreatic tissue, rocker-bottom feet, prominent occiput. 90% mortality in first year. More common in girls than boys, 4:1.
9. Down's Syndrome/Trisomy 21: associated with hypotonia (90%), brushfield spots ("diamonds in their eyes"), sandal-gap toes, simian crease, heart defects ~50% (VSD, ASD, endocardial cushion defect), GI defects (hirschprungs, duodenal atresia), increased risk of ALL, cataracts, strabismus, hypothyroid, atlanto-axial instability, clinodactaly/brachydactyly, moyamoya leading to stroke. Follow up: echocardiogram in neonatal period, optho evaluation before 6 mos and eye exams every year, including vision screening. Annual TSH/T4, c-spine x-ray between age 3-5.
10. Herbal Medicine in kids: 
--St.John's Wort: Wort is an old English word for plant. Used to treat depression. Most studies show equivocal data compared to SSRIs or placebo, due to the presence of a strong placebo effect in RCTs for depression. Many, many drug interactions (it's a CYP inducer). Other side effects: GI, photosensitivity. Contraindicated in bipolar patients-- like SSRI, it can push someone into mania.
--Feverfew: used to treat migraines. Has anti-serotonin, anti-platelet effects.
--Peppermint: anti-spasmodic, in tea form may be effective in IBS. In oil form, can be topically applied for headaches.
--Chamomile: anti-inflammatory, possibly slows peristalsis, can help with colic. As a concentrated tea swish, can help with mucositis associated with chemo.
--Black licorice: anti-spasmodic, anti-inflammatory, good for dyspepsia/gastritis. Naturally contains Glycyrrhizin, which is a sweetener but also seems to cause hypertension and hypokalemia. Because of this, whole licorice will interact with many antihypertensives, and thus should not be taken for longer than 2-3 weeks. If you buy licorice that has been de-glycyrrhizined, it is safer for continual use.
(c/o University of Arizona pediatrics podcast.)

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