I. Genetic Disorders and Nutrition Flashcards
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?
Autosomal Dominant
Examples of autosomal dominant diseases
achondroplasia, neurofibromatosis, night blindness, osteogenesis imperfecta, Marfan’s syndrome, tuberous sclerosis, polydactyly
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?
Autosomal recessive
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.
X-linked recessive
Examples of autosomal recessive diseases
albinism, deaf-mutism, galactosemia, phenylketonuria, thalaseemia major, microcephaly, lactase deficiency, sickle cell disease, SCID, mental retardation
Examples of X-linked recessive diseases
Hemophilia A, Hempphilia B, color blindnessm Duchenne muscular dystrophy, retinitis pigmentosa
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
X-linked Dominant
Examples of X-linked dominant diseases
Vitamin D risitant rickets, Melnick Needles syndrome
Results from a meiotic disjunction or failure of a chromosome pair to separate.
Trisomy
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
Trisomy 21 (Down Syndrome)
What conditions may develop from a child with Down syndrome later in life?
ALL, Alzheimer’s disease
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
Trisomy 18 (Edward’s syndrome)
A condition associated with moderate microcephaly with sloping forehead, microphthalmia, cleft lip and palate, malformed ears, scalp defects, polydactyly, rocker bottom feet, cryptorchidism.
Trisomy 13 (Patau syndrome)
Most common cause of primary amenorrhea with the ff signs: phenotypicall female, short stature, underdevloped gonads, thyroglossal duct cyst, and coarctation of aorta
Turner syndrome (Tx: recombinant human growth hormone and hormone replacement)
Phenotypically male who is relatively tall with gynecomastia, delayed secondary sex characteristics small testis, azoospermia, osteoporosis
Kleinfelter syndrome (47XXY)
Most common cause of MR in males due to a change in the increasing number of DNA sequence called CGG trinucleotide repeat sequence
Fragile X syndrome
The location of the abnormal chromosome of Fragile X syndrome
distal long arm of chromosome X at Xq27.3
Omega-6 FA
Arachidonic Acid
Omega-3 FA
Docosahexaenoic Acid
Prominent in the first 0-7 days of life in breastmilk. High in Ig, lactoferrin, lysozyme, and low in fat and carbohydrates
Colostrum
Present in day 10-14 of life with high fat and lactose in breastmilk
Mature Milk
Precusor of DHA
Linolenic Acid (C18:3n3)
Precursor of ARA
Linoleic Acid
Casein: Whey ratio of breastmilk
Low casein: High whey (40:60)
Forms small micelles/soft curds in the stomach, easily digested and easily moves along the gastrointestinal tract
Beta-casein
Prominent carbohydrate found in breastmilk
Lactose
Progressive neurodegenerative condition with colorless friable hair, seizures, and mental retardation found in children with deficiency in copper
Menkes Kinky hair syndrome
Deficiency in this vitamin results in craniotabes, rachitic rosary, harrison groove, and windswept deformity
Vitamin D (Tx: Vitamin D 300,000-600,000 IU)
Deficiency in this vitamin results in RBC hemolysis in premature infants, loss of neural integrity, posterior column and cerebellar dysfunction, and pigmentary retinopathy
Vitamin E
Deficiency in this vitamin results in hemorrhagic disease of the newborn
Vitamin K
Deficiency in this vitamin results in beri-beri, polyneuropathy, calf tenderness, heart failure
Thiamin (Vitamin B1)
Deficiency in this vitamin results in mucositis, anemia, nasolabial seborrhea, angular cheilosis, glossitis
Riboflavin (Vitamin B2)
Deficiency in this vitamin results in pellagra: dermatitis, diarrhea, and dementia
Niacin (Vitamin B3)
A cofactor in carboxylase reactions. Deficiency in this vitamin results in alopecia, dermatitis, and hypotonia
Biotin (Vitamin B7)
Deficiency in this vitamin results in megaloblastic anemia, peripheral neuropathy, and NTDs
Cobalamin (Vitamin B12) and Folate
Vitamin B6
Pyridoxal Phosphate
Vitamin B5
Panthotenic Acid
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
Vitamin C
Physiologic Anemia in Preterms
2-6 weeks of life
Physiologic Anemia in Term infants
6-8 weeks of life
Viruses demonstrated in breastmilk
CMV, rubella, HBV, Human T cell lymphotrophic virus-1, HSV
Stimulates milk secretion in breast alveoli
Prolactin
Stimulates contraction of myoepithelial cells around alveoli - squeezing milk into large ducts
Oxytocin
Guidelines for storing of breastmilk: 1. Room temp 2. Ref (less than 4C) 3. Freezer (-18 to -20C)
Ideal to Aceeptable: 1. Room temp: 4hrs-6hrs 2. Ref (less than 4C): 72hrs-8days 3. Freezer (-18 to -20C): 6months-12months
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
Marasmus
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.
Kwashorkor
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
Failure to thrive
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
Pickwickian syndrome
