Nutrition Flashcards
How can you calculate a patient’s daily caloric requirement?
Holliday-Segar formula:
100 kcal/kg for first 10 kg + 50 kcal/kg for next 10 kg + 20 kcal/kg for remainder
Describe clinical features of mild dehydration
- dry mucous membranes, oliguria
- 5% weight loss
- 50 ml/kg fluid deficit
Describe clinical features of moderate dehydration
- marked oliguria, poor skin turgor, sunken fontanelle, tachycardia, irritability
- 10% weight loss
- 100 ml/kg fluid deficit
Describe clinical features of severe dehydration
- hypotension, poor perfusion, lethargy
- 15% weight loss
- 150 cc/kg fluid deficit
What are the clinical benefits of breastfeeding?
decreased incidence of:
- septicemia
- acute and recurrent otitis media
- diarrhea
- necrotizing enterocolitis,
- UTIs
- protection against childhood obesity and asthma
What needs to be done to breastmilk for preterm infants at 1 mo of age?
- fortification because their nutritional needs surpass the minerals and electrolytes they need
What are the contraindications to breastfeeding?
- maternal HIV infection
- child w/ galactosemia (intolerant of breast milk)
- mother on isotretinoin therapy
- temporary cessation s/p mother getting technetium-99m contrast
- mothers of child w/ G6PD deficiency will need to avoid trigger foods/drugs
Who should NOT get soy formula?
- preterm infants
- NOT beneficial in preventing/managing colic
Who should get soy formula?
- vegetarian babies
- babies w/ galactosemia
What are common syndromes/disease that have autosomal dominant inheritance pattern?
- Alagille syndrome
- Achondroplasia
- Osteogenesis Imperfecta
- CHARGE syndrome
- Neurofibromatosis Type I (NF1)
- Marfan syndrome
- Most familial cancer syndromes
What should you suspect if an apparently normal parent has multiple children affected with the same autosomal dominant condition?
germline mosaicism:
- individuals with the germline mosaicism do not show signs of the disease because parent carries the gene mutation in gonadal tissue and germline cells but not somatic cells
- offspring are at increased risk to inherit the condition
What are common syndromes that are inherited in an autosomal recessive pattern?
- Cystic Fibrosis
- Hemoglobinopathies
- most inborn errors of metabolism
What patterns on a pedigree are consistent w/ AR pattern?
- skipping generations
- males and females equally affected
- males and females can each transmit the altered allele
- risk for 2 heterozygotes to have an affected offspring = 25%
- consanguinity increases the risk of having an AR disorders
What patterns on a pedigree suggest AD inheritance?
- both sexes equally affected
- both sexes transmit to offspring
- present in all generations
- every affected child has a parent with the disorder
- any affected individual has a 50% chance of passing it on to offspring
- fathers can transmit to sons
What are common disorders/syndromes inherited in an X-linked pattern?
- Hemophilia A
- Duchenne and Becker muscular dystrophy
- red-green color blindness
What are clinical features of Duchenne muscular dystrophy?
XR inheritance pattern
- progressive muscle weakness: starts w/ gluteal, pelvic, and girdle muscles. will have delayed motor milestones
- calf hypertrophy
- Gowers sign (~2 yo)
- wheelchair dependency by 12 years old
- cardiomyopathy
- respiratory failure
- cognitiv delays
What patterns on pedigree are consistent with X-linked recessive inheritance?
- never male-to-male transmission
- if a generation only has females, will look like the disease “skipped” a generation
- affected father transmits the disease allele to all his daughters but none of his sons
- carrier females have 50% chance of transmission to sons
What is genomic imprinting?
- differences in gene expression that depend on whether the disease allele is inherited from the mother or father
- ex: Chromosome 15 deletion:
- Prader willi (father)
- Angelman (mother)
What are clinical features of Prader-Willi syndrome (chrom 15 deletion)?
-
infancy:
- severe hypotonia at birth
- feeding difficulties
- narrow forehead
- almond-shaped eyes
-
childhood
- hyperphagia (severe obesity)
- short stature
- small hands/feet
- hypogonadism
- mild ID
- behavior disorders
What are clinical features of Angelman Syndrome (chrom 15 deletion)?
- appear normal at birth, but with time:
- seizures
- severe ID
- microcephaly
- ataxia
- hand-flapping
- outbursts of laughter
- “puppet-like” gait
Describe inheritance of mitochondrial disorders
zygote receives all mitochondria from the ovum (mother), so:
- mother carrying mtDNA mutation passes it to ALL offspring
- father carrying mtDNA mutation passes it to NO offspring
What are common diseases/syndromes caused by mitochondrial mutations?
- myoclonic epilepsy and ragged red fibers (MERRF)
- mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS)
- Leigh syndrome
- Kearns- Sayre syndrome
- Pearson syndrome
What are common trinucleotide repeat diseases?
- Fragile X Syndrome (CGG repeat → anticipation aka increased severity with transmission); X-linked
- Myotonic Dystrophy (CTG repeat); AD
Describe clinical features of Fragile X Syndrome
- ID (most common inherited ID syndrome)
- large head
- long face w/ prominent jaw and large ears
- large hands/feet
- macroorchidism after puberty
- hyperextensible joints
What are clinical features of myotonic dystrophy?
AD, anticipation
- myotonia w/ progressive weakness and wasting - distal muscles affected more than proximal, myotonia on grip testing (good grip but can’t let go)
- cataracts
- testicular atrophy
- diabetes mellitus
- ID
- premature balding
- cardiac conduction abnormalities
congenital myotonic dystrophy: marked hypotonia, ID, neonatal resp distress, feeding difficulties, talipes
