I. Genetic Disorders and Nutrition

Question 1

What type of genetic inheritance is acquired if a person marries and the mate is free of the trait and has 2 normal genes for the character in question, half of their offspring may be expected to be normal with the other half abnormal?

Answer 1

Autosomal Dominant

Question 2

Examples of autosomal dominant diseases

Answer 2

achondroplasia, neurofibromatosis, night blindness, osteogenesis imperfecta, Marfan’s syndrome, tuberous sclerosis, polydactyly

Question 3

What type is genetic inheritance is acquired if a heterozygote for the trait marries another and each of their offspring has 1 out of 4 chance of being homozygous and having the abnormal trait?

Answer 3

Autosomal recessive

Question 4

Only males are clinically affected, all the daughters of the affected males are carriers of the mutant gene, and affected males do not have affected sons but may have affected grandsons born to carrier females.

Answer 4

X-linked recessive

Question 5

Examples of autosomal recessive diseases

Answer 5

albinism, deaf-mutism, galactosemia, phenylketonuria, thalaseemia major, microcephaly, lactase deficiency, sickle cell disease, SCID, mental retardation

Question 6

Examples of X-linked recessive diseases

Answer 6

Hemophilia A, Hempphilia B, color blindnessm Duchenne muscular dystrophy, retinitis pigmentosa

Question 7

Affected males transmit the trait to all their daughters. Affected heterozygous females transmit the gene to half of their children from either sex while homozygous females transmit the trait to all their children

Answer 7

X-linked Dominant

Question 8

Examples of X-linked dominant diseases

Answer 8

Vitamin D risitant rickets, Melnick Needles syndrome

Question 9

Results from a meiotic disjunction or failure of a chromosome pair to separate.

Answer 9

Trisomy

Question 10

A condition resulting from a nondisjunction during anaphase with the ff signs: hypotonia, poor Moro reflex, hyperflexibility of joints, flat facial profile, small and low set ears, epicanthal folds, brachycephaly, and depressed nasal bridge

Answer 10

Trisomy 21 (Down Syndrome)

Question 11

What conditions may develop from a child with Down syndrome later in life?

Answer 11

ALL, Alzheimer’s disease

Question 12

A condition associated with the ff signs: failure to thrive, prominent occiput, micrognathia, low set or mallformed ears, small oral opening, narrow palatal arch, rocker bottom feet, clenched hand with overlapping of the index finger with the third. 30% die within a month

Answer 12

Trisomy 18 (Edward’s syndrome)

Question 13

A condition associated with moderate microcephaly with sloping forehead, microphthalmia, cleft lip and palate, malformed ears, scalp defects, polydactyly, rocker bottom feet, cryptorchidism.

Answer 13

Trisomy 13 (Patau syndrome)

Question 14

Most common cause of primary amenorrhea with the ff signs: phenotypicall female, short stature, underdevloped gonads, thyroglossal duct cyst, and coarctation of aorta

Answer 14

Turner syndrome (Tx: recombinant human growth hormone and hormone replacement)

Question 15

Phenotypically male who is relatively tall with gynecomastia, delayed secondary sex characteristics small testis, azoospermia, osteoporosis

Answer 15

Kleinfelter syndrome (47XXY)

Question 16

Most common cause of MR in males due to a change in the increasing number of DNA sequence called CGG trinucleotide repeat sequence

Answer 16

Fragile X syndrome

Question 17

The location of the abnormal chromosome of Fragile X syndrome

Answer 17

distal long arm of chromosome X at Xq27.3

Question 18

Omega-6 FA

Answer 18

Arachidonic Acid

Question 19

Omega-3 FA

Answer 19

Docosahexaenoic Acid

Question 20

Prominent in the first 0-7 days of life in breastmilk. High in Ig, lactoferrin, lysozyme, and low in fat and carbohydrates

Answer 20

Colostrum

Question 21

Present in day 10-14 of life with high fat and lactose in breastmilk

Answer 21

Mature Milk

Question 22

Precusor of DHA

Answer 22

Linolenic Acid (C18:3n3)

Question 23

Precursor of ARA

Answer 23

Linoleic Acid

Question 24

Casein: Whey ratio of breastmilk

Answer 24

Low casein: High whey (40:60)

Question 25

Forms small micelles/soft curds in the stomach, easily digested and easily moves along the gastrointestinal tract

Answer 25

Beta-casein

Question 26

Prominent carbohydrate found in breastmilk

Answer 26

Lactose

Question 27

Progressive neurodegenerative condition with colorless friable hair, seizures, and mental retardation found in children with deficiency in copper

Answer 27

Menkes Kinky hair syndrome

Question 28

Deficiency in this vitamin results in craniotabes, rachitic rosary, harrison groove, and windswept deformity

Answer 28

Vitamin D (Tx: Vitamin D 300,000-600,000 IU)

Question 29

Deficiency in this vitamin results in RBC hemolysis in premature infants, loss of neural integrity, posterior column and cerebellar dysfunction, and pigmentary retinopathy

Answer 29

Vitamin E

Question 30

Deficiency in this vitamin results in hemorrhagic disease of the newborn

Answer 30

Vitamin K

Question 31

Deficiency in this vitamin results in beri-beri, polyneuropathy, calf tenderness, heart failure

Answer 31

Thiamin (Vitamin B1)

Question 32

Deficiency in this vitamin results in mucositis, anemia, nasolabial seborrhea, angular cheilosis, glossitis

Answer 32

Riboflavin (Vitamin B2)

Question 33

Deficiency in this vitamin results in pellagra: dermatitis, diarrhea, and dementia

Answer 33

Niacin (Vitamin B3)

Question 34

A cofactor in carboxylase reactions. Deficiency in this vitamin results in alopecia, dermatitis, and hypotonia

Answer 34

Biotin (Vitamin B7)

Question 35

Deficiency in this vitamin results in megaloblastic anemia, peripheral neuropathy, and NTDs

Answer 35

Cobalamin (Vitamin B12) and Folate

Question 36

Vitamin B6

Answer 36

Pyridoxal Phosphate

Question 37

Vitamin B5

Answer 37

Panthotenic Acid

Question 38

Vitamin required in the integrity and maintenance of intercellular material, facilitates absorption of iron, and conversion of folic acid to folinic acid, metabolism of tyrosine and phenylalanine. Deficiency results in scorbutic rosary, bluish purple spongy swellings of the mucous membranes esp over the upper incisors, perifollicular hemorrhages, corkscrew hair

Answer 38

Vitamin C

Question 39

Physiologic Anemia in Preterms

Answer 39

2-6 weeks of life

Question 40

Physiologic Anemia in Term infants

Answer 40

6-8 weeks of life

Question 41

Viruses demonstrated in breastmilk

Answer 41

CMV, rubella, HBV, Human T cell lymphotrophic virus-1, HSV

Question 42

Stimulates milk secretion in breast alveoli

Answer 42

Prolactin

Question 43

Stimulates contraction of myoepithelial cells around alveoli - squeezing milk into large ducts

Answer 43

Oxytocin

Question 44

Guidelines for storing of breastmilk: 1. Room temp 2. Ref (less than 4C) 3. Freezer (-18 to -20C)

Answer 44

Ideal to Aceeptable: 1. Room temp: 4hrs-6hrs 2. Ref (less than 4C): 72hrs-8days 3. Freezer (-18 to -20C): 6months-12months

Question 45

Results from inadequate caloric intake due to insufficient diet, improper feeding habits with the ff signs and symptoms: loss of skin turgor, wrinkled and loose skin, disappearance of subcutaneous fat, old man facscies, and starvation type diarrhea

Answer 45

Marasmus

Question 46

The most common an severe form of malnutrition due to insufficient intake of protein of good biologic value resulting in hypochromatrichia (streaky red or gray hair in dark-haired children), decreased serum albumin.

Answer 46

Kwashorkor

Question 47

Describes children less than 3 years of age who meet the ff criteria: grow less than the 5th percentile, wt or ht less than 5th percentile, growth velocity less than normal for age

Answer 47

Failure to thrive

Question 48

Rare complication of extreme exogenous obesity in which patients have severe cardiorespiratory distress with alveolar hypoventilation with the ff signs: polycythemia, hypoxemia, cyanosis, cardiac enlargement, CHF, somnolence

Answer 48

Pickwickian syndrome