Week 3 - complete Flashcards
1
Q
Why is early childhood key for development?
A
Brain plasticity is high
2
Q
When is brain plasticity the highest?
A
During the prenatal period
3
Q
What happens if a child misses opportunities for development
A
Significant effects later in life
4
Q
What is a key concept in development? Describe
A
Trajectories: series of milestones are more important than an individual milestone
5
Q
What is the goal of well child care?
A
Promote health and development, nutrition, prevent disease, and manage and identify illnesses
6
Q
What is the Rourke baby record
A
Tool to manage important parts of Well child care
7
Q
What are the 5 key components of the Rourke baby record?
A
Growth
Nutrition
Anticipatory guidance
Immunization
Physical examination
8
Q
What aspects of growth are measured in the RBR?
A
height, weight, head circumference
9
Q
What is growth measured against?
A
WHO growth charts
10
Q
Do all children/babies have the same growth charts?
A
No. There are different charts for different conditions, e.g. Down’s, Turner
11
Q
How is ‘failure to thrive’ defined?
A
weight <3rd percentile and smaller than family norm; trajectory crosses percentile lines (e.g. going down in percentiles)
12
Q
How is ‘short stature’ defined?
A
height less than 3rd percentile and smaller than family norm
13
Q
How are overweight and obesity defined in RBR?
A
Overweight: BMI >85%ile
Obesity: BMI>95%ile
14
Q
What are 3 aspects of nutrition discussed in RBR?
A
Feeding, supplementation, stool pattern/urine output
15
Q
What supplementation is recommended for babies?
A
Vitamin D in first year and iron rich foods after 6 months
16
Q
What is anticipatory guidance? Examples?
A
Providing info to parents to facilitate optimal development and prevent illness/injury
e.g. car seat, babyproofing house
17
Q
What is one of the most important health promotion strategies?
A
Immunizations
18
Q
When do babies receive immunizations?
A
At 2, 4, 6, 12, 15, and 18 months
19
Q
Describe how RBR is used to monitor development
A
Is a predictable series of stages that progress, which mirror the maturation and growing complexity of the brain. Can be measured quantitatively and qualitatively
20
Q
What are 2 aspects of brain and neuronal development?
A
Pruning and sculpting
21
Q
Describe pruning and sculpting of neuronal pathways:
A
Pruning: elimination of unused connections
Sculpting: enhancement of frequently used connections
22
Q
What are critical periods in brain development?
A
If the needed stimuli are not received, then that part of the brain will not develop (e.g. visual development)
23
Q
What are sensitive periods in brain development?
A
“windows of opportunity” when child is primed to receive sensory input and develop more advance neural systems (e.g. language)
24
Q
What is developmental assessment?
A
Comparing observed development to expected norms
25
What are 5 areas of development that are commonly assessed?
Gross motor
Fine motor
Speech/language
Social adaptive
Cognitive development
26
What is critical for ensuring proper development?
That a childs vision and hearing are functional
27
What standards are used as surveillance and screening for developmental assessment?
RBR: use as surveillance
Nipissing/LookSee and ASQ are screening
28
What are developmental milestones?
Enable clinical assessment of a child's development in a given area
29
What is one requirement for assessing milestones?
Child must be otherwise healthy
30
What are 2 important aspects when assessing milestones?
Quality and symmetry
31
What is required for assessing milestones?
Careful observation over TIME. Not one-off assessment. Need to observe a child's progression
32
What is the most easily observed milestone/area of development?
Gross motor development
33
Which area of development is most/least predictive of future cognition?
Most: speech/language development
Least: gross motor development
34
What gross motor development is appropriate for 1, 3-4, and 4-5 months old?
1: lift head
3-4mo: head control
4-5mo: rolling over
35
What gross motor development is appropriate for 6, 10, and 12-15 months old?
Sit
Moving upright (e.g. crawl)
walking independentley
36
What gross motor development is appropriate for 18mo, 2yo, and 2.5yo?
walking well, bends down to pick things up
runs, climbs stairs
jumps on two feet
37
What gross motor development is appropriate for 3, 4, and 5 years old?
3: stand on one food
4: alternate feet walking up and down stairs
5: one foot hops
38
what is attachment?
Social and emotional link between infant and caretaker
39
What does attachment form the basis of?
Subsequent relationships
40
What is temperament?
A child's characteristic way of responding
41
When does mental health begin? how does mental health develop?
Begins in infancy.
It develops in the context of relationships between infant and caregiver
42
What are infants programmed for? PRovide an example
Social interaction. For instance, they prefer human voice and facial expressions over inanimate objects
43
How do infants communicate their emotional experiences?
Crying and other expressions
44
When should infants be able to have proto conversations?
8 weeks
45
How do infants learn to self regulate?
Through caregiving experiences: adults helping to soothe them eventually allows them to learn to soothe themselves
46
What is the transactional model of infant development?
Infants are affected by their environment but can also affect the environment
47
How is infant emotional development characterized in months 0-3?
physical regulation, parents make patterns in infants' day, which sets the stage for future self regulation
48
How is infant emotional development characterized in months 3-6?
Infants are less overwhelmed by bodily sensations, are socially interactive (smile, laugh)
49
How is infant emotional development characterized in months 6-12?
Infants form the basis of their attachment relationships towards the primary caregiver. They prefer familiar adults
50
What are some attachment behaviours?
crying, eye contact, cooing, smiling, reaching out, clinging, following
51
What are the 4 attachment styles?
Secure
Insecure-avoidant
insecure-ambivalent
disorganized
52
What proportion of children make up each attachment style?
Secure: 60-65%
insecure-avoidant: 20%
insecure-ambivalent: 10-15%
disorganied: 5-10%
53
Describe the securely attached infant:
uses parent as secure base from whom to explore; strongly prefers parent>stranger
54
Describe the securely attached parent:
responds appropriately, promptly, and consistently to child’s needs
55
Describe the securely attached child at school age:
exploratory; interacts well with children and adults
56
Describe the insecure-avoidant attached infant:
does not seek to play with parent; little response to parent leaving; parent = stranger
57
Describe the insecure-avoidant attached parent:
little/no response to distress; discourages crying and encourages independence
58
Describe the insecure-avoidant attached child at school age:
more hostile with teachers/peers, unprovoked aggression, and discipline problems
59
Describe the insecure-ambivalent attached infant:
parent not secure base for exploration so wants to stay close to them; distressed upon separation; will not be calmed by a stranger
60
Describe the insecure-ambivalent attached parent:
inconsistent – sometimes responsive and sometimes preoccupied and unresponsive
61
Describe the insecure-ambivalent attached child at school age:
clingy, fearful; have difficulty separating from parents; very emotional
62
Describe the disorganized attached infant:
lack of coherent attachment strategies shown when stressed; contradictory behaviours
63
Describe the disorganized attached parent:
frightened/frightening behaviour – intrusiveness, withdrawal, excess negativity, maltreatment, childlike parent, volatile/inappropriate emotion
64
Describe the disorganized attached child at school age:
high rates of aggressive, hostile, threatening behaviour towards peers/teachers
65
Who was Gessel?
wrote detailed descriptions of normal child development
66
Who was Erikson?
Introduced psychosocial development, and recognized the importance of social factors. Trust vs mistrust
67
What is the behavioural model?
all development is the cumulative effect of learning. Learning is the result of positive or negative reinforcement of observable behaviours
68
What concept did pavlov and thordike introduce?
Classical conditioning
69
What are the 3 concepts in classical conditioning?
Reinforcement
Extinction
Generalization
70
What is reinforcement in classical conditioning?
repeated association strengthens the link between the stimulus and response
71
What is extinction in classical conditioning?
Relationship between the stimulus and response is weakened
72
What is generalization in classical conditioning?
Conditioned response becomes linked to a stimulus that is similar to the initial stimulus
73
What concept did Skinner introduce?
Operant conditioning
74
What are two aspects of operant conditioning?
positive/negative and reinforcement/punishment
75
What concept did Piaget introduce?
Cognitive development: children take active roles in adapting to their environment
76
What did piaget emphasize?
The interaction of biological change and the impact of the environment
77
How does development occur according to Piaget?
New knowledge is assimilated into existing cognitive frameworks, and frameworks are accommodated to incorporate new info
78
What are some common developmental disorders?
Speech delays, learning disabilities, ADHD
79
What is global development delay?
Failure to meet expected milestones in 2+ areas
80
To whom does global development delay apply?
Children aged 5 and up ONLY
81
What do you want to optimize in children to prevent developmental delay? Example
Optimize participation. E.g. just because someone is delayed or has a disability, doesn't mean that they cant participate in 'normal' activities
82
What is the international classification of function?
Framework of how health conditions, personal factors, and environmental factors affect aspects of life including body structure and function, activity, and participation
83
How do speech and language develop?
Through complex interactions and transactions between children, adults, and peers
84
What are some red flags of speech development at 2mo?
Not responding to nearby conversation
85
What are some red flags of speech development at 4mo?
not being interested in people
86
What are some red flags of speech development at 10mo?
Not using repetitive babble
87
What are some red flags of speech development at 18mo?
No single words
88
What are some red flags of speech development at 2yo?
No 2-word phrases
89
What are some red flags of speech development at 4y?
Not speaking fully intelligibly
90
What are some red flags of speech development at 5yo?
Poor grammar
91
What percentage of children are affected by developmental language disorders
2-5%
92
Can developmental language disorders be hereditary?
Yes
93
What may developmental language disorders be a part of?
global development delay, ASD, intellectual disability
94
What may developmental language disorders be secondary to?
hearing impairment, neglect, brain injury
95
When do families do best?
when they're able to respond to the spontaneous/unexpected while maintaining predictable structures and patterns
96
What percentage of families have never been divorced?
less than 50%
97
What are children of divorced parents at slightly higher risk of?
psychological problems
98
How does family structure influence child health and development?
There is no evidence that family structure alone is a significant predictor of child health/development
99
How common are genetic disorders in miscarriages?
present in 15% of miscarriages
50% of miscarriages have a chromosomal abnormality
100
What are things you need to consider when thinking about whether there may be a genetic disorder? (6)
1. developmental delays, dysmorphic features, congenital malformations
2. Family Hx
3. History of 3+ miscarriages/stillbirths/infertility
4. consanguinity and ethnic background
5. cancers (esp. early onset)
6. early onset CVD
101
What genetic disorders are Ashkenazi Jewish predisposed to?
Tay-Sachs, BRCA1, Canavan disease, familial dysautonimia
102
What genetic disorders are French Canadians predisposed to?
Tay-Sachs
103
What genetic disorders are Mediterraneans predisposed to?
b-thalassemia
104
What genetic disorders are southeast asians predisposed to?
a-thalassemia
105
What genetic disorders are Amish/Mennonites and Arabs predisposed to?
various rare disorders
106
What genetic disorders are Africans predisposed to?
sicke cell anemia
107
What genetic disorders are Caucasians predisposed to?
cystic fibrosis
108
When taking a family history for genetics, what should you inquire about (10)?
3 generations, consanguinity, HPI, developmental delays, birth defects, fertility history, cancers, neonatal deaths, early onset HD, ethnicity
109
Define allelic heterogeneity
Different mutations in the same gene resulting in different phenotypes
110
Define locus heterogeneity
Mutations in different genes at different chromosomal loci that cause the same phenotype
111
What is genetic anticipation?
Symptoms of a disorder become more apparent/severe with each new generation
112
What are some conditions that are subject to anticipation?
Triple repeat disorders eg Huntingtons and Fragile X syndrome
113
What is gonadal mosaicism?
When a parent expresses a mutation only in the gonads so they have no phenotypic effects but it can cause repetitive de novo mutations in offspring
114
Describe autosomal dominant pattern of inheritance
Affect people in each generation; one copy of mutation is sufficient to express condition.
115
Describe how males and females are affected in dominant mutations
equally
116
Can there be variation in autosomal dominant phenotypes?
Yes
117
What is a new dominant mutation?
new conditions that arise; are not seen in previous generations
118
What is the dominant negative effect?
When a gene product affects the wild type gene too, resulting in a major phenotypic effect
119
What is haploinsufficiency?
When a single copy of a gene is inactivated and the remaining one is insufficient to maintain normal function
120
What is a gain of function mutation?
A mutation that causes increased activity of the normal gene product
121
What is pleiotropy?
One gene impacting many organs
122
What is penetrance?
THe fraction of individuals who carry a gene who manifest a specific phenotype
123
Describe the 2 types of penetrance
Complete: absolutley shows sign.
Incomplete/reduced: even if someone has a gene mutation they may not show signs
124
What can penetrance also be dependent upon?
Age. I.e., symptoms only appear with certain environmental triggers
125
What is genetic mosaicism? What are the types?
When not all tissues are affected by a mutation. Includes gonadal (Affects future offspring) and somatic (limited to parent tissues)
126
What can increase the risk of autosomal recessive mutations?
Increased consanguinity
127
How do recessive mutations affect males and females?
Equally
128
What are the 2 types of heterozygotes?
Cis and Trans
129
Compare cis vs trans heterozygotes
Cis: 2 mutations on same allele of gene = mutations are from one parent
Trans: two different mutations on different alleles of gene = one mutation from each parent
130
Describe X-linked mutations
Affect males almost exclusively, transmitted from female carrier
131
Define hemizygous
Has to do with mutations on X chromosome: in males there is only 1 X chromosome so we call it hemizygous
132
Define X inactivation:
One of two X chromosomes in females are inactivated by methylation
133
Relate X inactivation to X linked diseases
Females arent affected by X linked conditions because of X inactivation: they have a "spare" X chromosome BUT if more healthy Xs are inactivated, then females can get some mild symptoms
134
Define X-autosomal translocation
If the translocated X is inactivated, there will be partial monosomy for the autosomal segment which will be lethal to the cell
135
What are some types of non-mendelian genetics? (5)
mitochondrial, epigenetics, digenic, multifactorial, triplet repeat disorders
136
How are mitochondria inherited?
From the mother
137
What tissues to mitochondrial disorders affect? Examples of disorders?
Many tissues- are multisystemic
E.g. fatigue, feeding difficulties, cardiomyopathy, cognitive dysfunction
138
What is the % chance that mitochondrial condition will be passed on?
100% chance from mother
139
Define polyplasmy
multiple copies of mtDNA per cell
140
Describe heteroplasmy
mixture of normal and abnormal mtDNA in cells
141
What is the threshold effect?
In mitochondrial genetics, a certain amount of heteroplasmy (proportion of affected maternal mtDNA passed on) is needed for offspring to be affected
142
Describe epigenetics
Differential expression of genes depending on whether theyre inhehrited from mom and dad, has to do with imprints (by methylation) affecting gene expression
143
What are 2 epigenetic syndromes?
Prader-Willi and Angelman
144
What is prader-willi syndrome characterized by?
Hypotonia, hypogonadism, hypomentia, obesity
145
What is Angelman syndrome characterized by?
Hand flapping, other cognitive defects
146
How are Prader-willi and angelman syndrome derived? Compare/contrast
From switch off/deletion of c15.
Maternal delation = AS
Paternal deletion - P-WS
147
Define uniparental disomy
What is it AKA?
pair of chromosomes from the same parent. AKA monosomy/trisomy rescue
148
Define how different regions of chromosomes are affected by imprinting? How does IVF affect it?
Only certain regions are imprinted and thus at risk of mutations/genetic issues
IVF can affect imprinting/rescues and increase the risk of chromosomal diseases
149
Define digenic mutations
phenotypic effects manifested only when two nonallelic controlling genes interact
150
Define multifactorial mutations
When >1 favtor causes a trait or health problem, e.g. genes, lifestyle, nutrition
151
What are some Triplet repeat disorders?
Huntington's, Fragile X syndrome, myotonic dystrophy, Friedrich ataxia
152
What are some down sides of genetic screening?
Not diagnostic
Can have false positive/negative results
knowledge does not always equal power
153
What are some considerations for offering genetic screening?
Family Hx, ethnicity, clinical features
154
How many conditions does ontario newborn screening screen for?
30 metabolic disorders, mostly autosomal recessive
155
What was the first metabolic disorder screened for in Ontario?
PKU
156
What criteria are used to determine what metabolic disorders are screened for in ontario newborn screening?
Wilson and Jungner critera
157
Describe Wilson and Jungner criteria
Take into consideration the screen (if its reliable and economic), the disease (severity, etiology, if theres an asymptomatic stage), and the management (if treatment is available)
158
What are the 8 classes of diseases screened for in ontario newborn screening?
1. metabolic diseases
2. endocrine diseases
3. sickle cell diseases
4. cystic fibrosis
5. severe combined immune disease
6. critical congenital heart disease
7. congenital hearing loss
8. spinal muscular atrophy
159
What are 3 types of prenatal screening?
Preconception counseling
Non-invasive screening
Invasive screening
160
What is the purpose of preconception counseling?
To educate and reduce risk of some disorders
161
What are examples of primary and secondary prevention in preconception counseling?
Primary: folic acid, no smoking or drug consumption
Secondary: screening
162
What are advantages and disadvantages of prenatal screening?
Adv: anticipatory guidance, in-utero interventions, labour planning
Disadv: increased anxiety and stress, uncertain results, limitations of screenigns
163
What are 5 types of non invasive prenatal screening?
1. Maternal and family Hx
2. NT ultrasound
3. eFTS
4. Fetal anatomy scan
5. NIPT
164
What are some things to discuss when taking a maternal and family Hx as part of prenatal screening?
age, teratogens, diabetes, ethnicity, reproductive Hx, consanguinity
165
When is NT ultrasound done?
11-13w6d
166
What is a positive screen in a NT ultrasound?
Elevated NT >3.5mm
167
What does a NT >3.5mm signify
increased risk for heart defect, aneuploidy, and noonan syndrome
168
What else does NT US screen for?
T13, T18, T21, Turner syndrome
169
When is eFTS done? what is the turnaround time?
11-13w6d. Turnaround time 5-10d
170
What is the eFTS?
Bloodwork screen for HCG, APP-A, PIGF, AFP, T18, T21
171
When is a fetal anatomy scan done?
18-20w
172
What does a fetal anatomy scan screen for?
Congenital malformations including NT defects, anterior abdominal wall defects, major heart defects, skeletal dysplasias
173
When is a NIPT done? what is the turnaround time?
>9w; 10d turnaround time
174
What does NIPT screen for?
trisomies, microdeletions, X and Y screens
175
What conditions need to be present for a NIPT to be indicated/covered by OHIP?
ADvanced maternal age, positive NT ultrasounds screen, positive eFTS
176
Compare invasive and non-invasive screenings
Invasive are DIAGNOSTIC, non-invasive are not
177
What are 2 types of invasive prenatal screening
chorionic villi sampling and amniocentsis
178
What is the miscarriage risk for CVS and amnio?
CVD: 1/100; amnio: 1/200
179
compare CVS and amnio
sample collected from placenta (CVS) or amniotic fluid (amnio)
180
What are the 2 arms of a chromosome?
p and q
181
How can chromosome centromeres be located? How does this affect chromsome shape?
Metacentric, submetacentric, acrocentric, telocentric
182
Describe acrocentric chromosomes
short p arm contains no unique genes, so deletion has no effect
183
What are acrocentric chromosomes
c13, 14, 15, 21, 22
184
What are 2 broad types of chromosome disorders?
Numerical anomaly and structural anomaly
185
What causes numerical anomalies (3)
1+2. error during Meiosis i or ii
3. during mitosis
186
Compare numerical anomiles resulting from meiosis vs mitosis errors
Errors during meiosis result in aneuploidy or triploidy; errors during mitosis result in somatic mosaicism
187
What is the most common cause of T21?
Nondisjunction during meiosis I
188
Which monosomies are lethal?
All except monosomy X (Turner syndrome)
189
What are the 3 T21 aetiologies? Which are most common?
nondisjunction (23%), translocation (5%), mosaic (2%)
190
Which T21 aetiology results in the mildest symptoms? Why?
Mosaic aneuploidy, because not all cells are affected
191
Define: robertsonian translocation
Between acrocentric chromosomes
192
Describe hereditary component of robertsonian translocation
15% rate of recurrence
193
What are structural chromosome anomalies? Where does it occur
Recombination errors between non-homologous chromosomes
194
Define: balanced translocation
When chromosome sections are moved but not lost, often resulting in no impact on health. BUT it can affect offspring because gametes can become unbalanced
195
Define: philadelphia translocation
somatic translocation between c9 and c22 in WBCs
196
How do chromosome duplications and deletions occur? Which is more severe?
Occur due to unequal recombination between homologous chromosomes
Deletions are more severe, it depends on the size of the c that is missing
197
List 7 common chromosomal syndromes
Turner
T13, T18, T21
Klinefelter
DiGeorge
P-W
Angelman
198
what is turner syndrome characterized by?
puffy hands/feet, webbed neck, coarctation of aorta, short stature, primary amenorrhea and infertility, normal intelligence
199
How is Turner syndrome notated?
45, X
45, X/46, XX
etc.
200
What is T13 aka?
Patau syndrome
201
How is Patau syndrome characterized?
Midline defects, cleft palate, polydactyly, severe developmental delay
202
What is the fatality of Patau syndrome?
80-90% in first year
203
How is Patau syndrome notated?
47,XX, + 13
204
What is T18 aka?
Edward syndrome
205
How is eddward syndrome notated?
47, XX + 18
206
How is Edward syndrome characterized?
Cardiac defects, delicate facial features, small size, overlapping fingers, rocker bottom feet, marked development delay
207
Compare how males vs females are affected by T18
Edward syndrom affects females 5:1
208
How is Klinefelter syndrome denoted?
47, XXY
209
How is Klinefelter syndrome characterized?
Tall stature, gynecomastia, small testes, infertility, normal appearance
210
How is DiGeorge syndrome notated?
22q11.2 microdeletion
211
How is diGeorge syndrome characterized?
cleft palate, congenital heart defect, hypocalcaemia, immunodeficiency, learning disability, low-set ears
212
How are Prader-Willi and Angelman syndrome notated?
15q11-w13 paternal deletion (PW)
15a11-q13 maternal deletion (A)
213
How is PW characterized?
hypotonia, hypogonadism, hypomentia, obesity
214
How is angelman syndrom characterized?
small head, happy demeanor, stiff-legged gait with arms up, absent speech, severe developmental delay
215
What are 4 types of cytogenetic and molecular testinng?
Karyotype, FISH, microarray, QF-PCR
216
Describe karyotype testing
arranging chromosomes by pairs according to standard
217
What are the chromosome groups?
A: 1-3
B: 4-5
C: 6-12, X
D: acrocentric c
E: 16-18
F: 19-20
218
When would you order karyotype testing?
for suspected chromosome syndromes, first degree relatives with translocations, 3+ miscarriages, stillbirths or neonatal deaths of unknown causes, disorders of sexual differentiation, infertility/amenorrhea
219
What is FISH?
Uses fluorescent probes to bind only to parts of the chromosomes
220
When would you order FISH?
To find microdeletions BUT you need to know what you're looking for (i.e. use after microarray to determine parentage cause)
221
What is a microarray?
Measures the expression levels of large numbers of genes simultaneously, shows gene content of chromosome imbalance
222
What cant microarrays show?
balanced translocations
223
When would you order a microarray?
Moderate to severe developmental delays and multiple congenital abnormalities
224
What is the ACMG scale?
tells whether a microarray result is pathogenic-neutral-benign (1 = pathogenic, 5 = benign)
225
What is QF-PCR?
Fast counter for trisomies and X and Y chromosomes
226
What are pros/cons of QF PCR?
Fast and diagnostic but cant show the mechanism (e.g. translocation, trisomy?) so need to karyotype after
227
Compare trave vs macrominerals. Examples of each
Trace (e.g. Se, Zn, Fe, I) are needed in a few mg/day
Macrominerals e.g. Ca, Na, K, Mg need 100s of mg per day
228
Define EAR, RDA and AI
EAR: meets the nutrition needs of 50% of population
RDA: EAR + 2 SD meets needs of 97.5% of population
AI: when RDA cannot be calculated
229
What is tolerable UL?
Highest intake of a nutrient that is unlikely to pose a health risk to almost all individuals in the population
230
Compare calorie content in breast milk and formula
Both have 0.67kcal/mL and contain 50% fat
231
What is the main CHO in breast milk?
lactose
232
What are the main proteins in breast milk?
60-80% whey, 20-40% casein
233
What are the 3 stages of breast milk?
colostrum, transitional, mature
234
Compare macronutrients in formula vs breast milk
formula is more macronutrient rich but iron is less well absorbed
235
What are some protein sources in formula?
hydrolyzed whey, protein hydrolysates, soy-based
236
Describe newborn weight gain/loss
Lose 5-10% of weight at birth but regain by 10-14d
237
How much weight/height should children gain each year?
2-3kg and 5-8cm per year until puberty
238
What is vitamin A function and deficiency/excess?
pigment in retina
night blindness or hyperkeratosis
239
What is vitamin B1? function and deficiency?
Thiamine
Function: CE in pyruvate metabolism
def: beriberi
240
What is vitamin B2? function and deficiency?
riboflavine
CE in mito ox metabolism
Def: normocytic anemia
241
What is vitamin B3? function and deficiency?
niacin
CE in mito ox met
def: pellagra
242
What is vitamin B6? function and deficiency?
pyridoxine
CE in AA synthesis
def: normocytic anemia
243
What is vitamin B12? function and deficiency?
cobalamin
Facilitates erythrocyte and myelin formation
def: pernicious anemia
244
What is vitamin C? function and deficiency?
ascorbic acid
collagen formation
def: scurvy
245
What is vitamin D? function and deficiency?
cholecalciferol
increases Ca absorption
def: rickets
246
What is vitamin E? function and deficiency?
a-tocopherol
antioxidant
peripheral neuropathy
247
What is vitamin K1? function and deficiency?
phylloquinone
clotting
def: hemorrhage
248
What is folate? function and deficiency?
purine synthesis
def: megaloblastic anemia
249
What is biotin? function and deficiency?
CE in carboxylation reactions
def: neurologic signs
250
What is pantothenic acid? function and deficiency?
part of CoA: AA synth and CHO/fat metabolism
def: neurologic and gastro signs
251
Function of sodium
maintain fluid volume and osmotic pressure
252
function of potassium
maintain electric potential across membranes
253
function of chloride
maintain fluid volume, neurologic functions
254
function of calcium
bone formation and remodeling, clotting
255
function of magnesium
stabilize PO4-3 groups, esp in ATP
256
function of phosphorus
nucleic acids, cell membranes, ATP
257
function of iron
Deficiency?
Hb, Mb, enzymatic iron synthesis
def: microcytic anemia
258
function of iodine
deficiency?
thyroid hormone
def: goiter, cretinism
259
function of zinc?
deficiency?
protein metabolism and synthesis, cell membrane stability
def: growth, immunity, rash, diarrhea
