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Midterm Flashcards

(62 cards)

1
Q

Define and compare disorder and disease

A

A disorder is the general term for any derangement of abnormality of function that is typically used for a problem or condition
A disease is a change in structure or function that is considered to be abnormal within the body

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2
Q

What is a syndrome?

A

A group of symptoms that might be caused by a specific disease or by several interrelated problems

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3
Q

Define pathogensis

A

The description of how a particular disease progresses (acute or chronic)

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4
Q

What is the étiologie of a disease?

A

The cause

Can be idiopathic (unknown), nosocomic (acquired), or iatrogenic (caused by treatment)

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5
Q

Compare morbidity and mortality

A

Morbidity refers the the state of being diseased or unhealthy within a population
Mortality is the term used for the number of people who died within a population

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6
Q

What are the top 5 causes of death in children under 5?

A

Prématuré
Pneumonia
Asphyxia

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7
Q

What are some typical paediatric problems?

A
Acute illness (respiratory infections)
Chronic illness (asthma, diabetes)
Injury (accidental or not)
Disability (physical, intellectual)
Eating disorders
Mental health disorders
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8
Q

What are some causes of disease?

A
Hereditary
Trauma
Inflammation and infection
Nutritional imbalance
Impaired immunity 
Hyperplasies and neoplasms
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9
Q

What is hyperplasia?

A

An increase in the number of cells in an organ or tissue
Appear normal under a microscope
Not cancer but may become cancer

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10
Q

What is désolasia?

A

Cells that look abnormal under a microscope but are not cancer

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11
Q

What are neoplasm?

A

Abnormal mass of tissue (tumor) arising from new cell growth (uncontrolled) and/or inability of cells to die when they should
Can be benign (limited growth, encapsulated, easily removed, non fatal) or malignant (uncontrolled growth, invade surround tissue, metastasize, deadly)

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12
Q

What are the two types of leukaemia?

A

Acute lymphoblastic leukaemia (ALL) -75%

Acute myeloid leukaemia (AML) -20%

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13
Q

Describe ALL

A

B cell: 85-90%
T cell: 10-15%
Can be infant (<12 months), childhood (1-9 years), or adolescent (>/=10)

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14
Q

What are some symptoms of leukemia?

A
Fever 
Bone pain 
Bleeding or bruising
Lymphadenopathy 
Hepatomegaly
Splénomegaly
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15
Q

How do you diagnose leukemia?

A

Bone marrow aspiration

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16
Q

What is the most common genetic abnormality in leukemia?

A

ETV6-RUNX1

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17
Q

What are the sanctuary sites of cancer?

A

CSF
Testes
Eyes

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18
Q

What is the treatment for leukemia?

A

Involves risk stratification to low, standard, high, or very high.
Treatment is then based in age, presence after induction, presence of disease at sanctuary sites and cytogenetics and molecular genetics results
Treatment may involve chemo, stem cell for very high, and immunotherapy for relapsed

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19
Q

What are the two types of SCT?

A

Allogeneic: stem cells from donor, complications include graft versus host, failure to take, spurious infection due to immunocompromise, used for patients with leukemia
Autologous: receive your own stem cells that were previously harvested, no graft vs host, fewer complications, used to allow higher doses of chemo

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20
Q

What are the different types of solid Timor?

A
Neuroblastoma
Bone sarcoma
Soft tissue sarcomas
Rénal tumours
Liver tumours
Germ cell tumours
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21
Q

What are the two types of bone sarcomas?

A

Ewing’s or osteosarcoma

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22
Q

What are the two types of soft tissue sarcomas?

A

Rhabdomyosarcoma (40%): occurs mainly in young kids (<10), two subtypes (alveolar t1:13, and t2:13, and envryonal), prognosis depends on site, pathology, stage, and resection, treated with anything
Non-rhabdomyosarcoma (60%): heterogenous group of diseases, mainly treated with surgery (infant fibrosarcoma can use chemo)

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23
Q

What are the different types of renal tumours?

A

Wilms tumour
Clear cell sarcoma of the kidney
Rhabdoid tumour
Rénal cell carcinoma

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24
Q

What are the different types of liver tumours?

A

Heptoblastoma

Hepatocellular carcinomas

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25
Describe CNS tumours
Can occur in supratentorium (gluons and ependydmoma) or infratentorium (posterior fossa and brain stem) Account for 20% of all childhood cancers Second most common group Frequently occur in young children <3 years with worse prognosis but can occur with all kids
26
What are some hallmarks of cancer?
``` Sustaining proliferation signalling Resisting cell death Inducing angiogenesis Enabling replicative immortality Activating invasion and metastasis Evading growth suppressors ```
27
What is apoptosis?
Programmed cell death The death of cells that occurs as a normal and controlled part of an organisms growth or development Cell suicide Hallmarks: morphological (cell shrinkage, chromatic condensation, cell budding) and biochemical (DNA fragmentation, activation of caspases, protéolytic cleavage of key proteins)
28
What is the purpose of apoptosis?
Needed for proper development in tissue remodeling, organ formation, formation of synopses Needed to destroy cells that represent a threat to the integrity of the organism
29
What are the three pathways to apoptosis?
ER mediated Death-receptor mediated Mitochondria mediated All lead to formation of caspases by cleavage of subunits and combination of large and small
30
Describe the activation of caspases
Extrinsic: death receptors indice signalling complex with activates initiator caspase 8 and pro-apoptopic BID protein (which goes to mitochondria). 8 activiste executioner caspases Intrinsic: mitochondria releases cytochrome c which causes conformation change in caspases leading to activation of initiator caspase 9
31
How are caspases inhibited?
Indirect: regulation of mitochondria and ER permeability Direct: caspase inhibitors
32
How is permeability regulates?
Closing and opening of channels Opening: proapoptotic bid binds to pro-survival Bcl-2, removing it from the opening and allowing the releases of pro-spoptotic factors leading to apoptosis
33
What possible treatment Does the permeabilkty pathway of apoptosis inhibition lead to?
Targeting the Bcl-2 family to allow apoptosis in cancer cells to occur using agents such as ABT-737
34
What is p35?
Baculorviral protein that blocks defensive apoptosis (direct inhibition) Contains a broad range of inhibitors, inhibiting caspase-1,3,6,7,8,10 Also inhibits C. Elegans Once bound, p35 undergoes conformational change and is therefore irreversible
35
What are IAPs?
Inhibitors of apoptosis protein Are often implicated in neurofegenerative diseases and cancer Inhibit cell death induced by various triggers
36
How to IAPs supress apoptosis?
1. BIR domains: are involved in the direct binding and inhibition of cell-death professes, specifically caspases 3,7,9 2. RING domains: function as E3 ligase that médiate the ubiquitination of binding proteins to target them either for proteasomal degradation or for signaling complex formation
37
What are SMAC mimetics?
Promising new anti-cancer drugs Stable and bio available small molecule compounds Designed against the AVPI tetrapeptide sequence of SMAC that antagonizes IAP function Potency has been shown t greatly increase dimerization Pan-IAP antagonists that mainly target cIAP1 and cIAP2 and to a lesser extent XIAP Kills through multiple mechanisms
38
What are the four major factors known to cause congenital malformations?
1. Chromosomal abnormalities 2. Gêne abnormalities 3. Intra-utérine injury 4. Environmental factors
39
What are the different types of congenital malformations?
Structural: clubfoot, congenital dislocated hip, gear defects, spina bifida, cleft palate Metabolic: phenylketonuria, yay-Sachs disease, galactosemia, maple syrup urine disease
40
Describe congenital dislocated hip
Abnormality of the hip joint where the femoral bead slips out of the normal position that becomes noticed in the first months Symptoms: asymmetrical folds of the affected thigh, difference in leg length, positive Ortolanis (clicking) Étiology: unknown ex improper position prior to or during birth or relaxation of joint due to maternal hormones Diagnosis: x Ray Treatment: cast/splint for 3 months (maybe surgery) Prevention: prenatal care
41
Describe clubfoot
Frequent deformity of foot or ankle Symptoms: fixation of the foot Etiology: unknown ex. Fetal positioning, genetics Diagnosis: physical exam and X-ray to assess severity Treatment: successful if caught early by using splint or cast depending on severity Prevention: none
42
Describe spina bifida
Neurological tube effect where the vertebrae fail to close over the spinal cord, generally in the low back Symptoms: skeletal malformation, deformed joints, paralysis of legs, bowel incomtinence Etiology: unknown risk factors are maternal radiation, obesity, diabetes, lack of folate, genetic factors Diagnosis: x Ray and prenatal screening, look for skin defect over spinal area and muscle abnormalities Treatment: surgery in first 24 hours w/ addition support depending on severity Prevention: folic acid level maintenance
43
What are the three types of spina bifida?
Occulta: most coming, a symptomatic, dumpling of skin, dark hairy patch Mengingocele: meninges of spinal cord peptide though the opening in vertebrae, fluid filled sack, nerve tissues not involved therefore no neurological issues Myelomengocele: most severe form, spinal cord protrudes, neurological problem
44
What are some chomoskm abnormalities that can leads to genetic defects?
Failure of segregation: aneuploidy (one less) or polyploidy (one more), can occur in first of second division Breaks and rearrangement: deletions, translocations (balanced or unbalanced), inversions (paracentric:long part, or pericentric:middle part), or duplication
45
What are some examples of chromosomal disorders?
Trisomy 13, 18, or 22 Turners syndrome Klinefelters 47 XYY syndrome
46
Describe tricking 13
Patau syndrome Typically not compatible with life, most dying in first days or weeks Only 10% live past first year Symptoms: severe intellectual disability and physical abnormalities (also see heart defects, brain and spinal cord abnormalities, very small or poorly developed eyes, extra digits, cleft lil, and hypotonia
47
Describe trisomy 18
Edwards syndrome 1/5000 births but frequently fatal before and after birth (6-10% past first year) Symptoms: severe intellectual disability (other system abnormalities, growth delay, low birth weight, small abnormally shaped head, small jaw and mouth, clenched fist, club feet
48
Describe trisomy 21
Down syndrome 1 in 800 but goes up with age Symptoms: mild to moderate intellectual disability (facial appearance, hypotonia, heart defects, GI tract abnormalities) Increased risk of reflux, celiac disease, hearing an vision problems, leukemia and hypothyroidism Can be very productive members of society
49
Describe turners syndrome
Missing or partially X chromosome 1 in 25000 newborn girls Symptoms: impaired devlopment (short stature, loss of ovary function, don’t undergo puberty without hormone therapy, may also see webbed neck, low hairline on back, swelling in lower extremities, and heart defects)
50
Describe klinefelter’s
Extra copy of X chromosome in males 1/500-1000 but usually not diagnosed until puberty Symptoms: failure of normal male sexual development (sterility, small penis and tests, large breasts, minimal or absent body hair, decreased muscle development)
51
Décrive 47 XYY syndrome
Extra Y chromosome on males 1/1000 Symptoms: not physically obvious, may be taller, normal sexual development, can have kids (complications: risk of learning disabilities, delayed language development and skills and motor skills, hypotonia, motor ticks, behavioural and emotional difficulties, autism)
52
What was Garrod’s hypothesis?
In an organism, one metabolic step is catalyzed by one enzyme One gene = one enzyme Genetic input in each metabolic step in an organism
53
Describe the first real example of inherited metabolic diseases
PKU in 1934 by folling He found 2 children with severe mental retardation and noticed that the urine had an unusual odor. He found it had an unusual chemical reaction with FeCl and discovered it was phenylpyruvic acid. Found that 8 of 430 children shared the same reaction. He found it was chased by a blocking of tyrosine formation from phenylalanine, resulting in a build-up of phenylalanine and resulting in the formation of phenylketones
54
What are the different things doctors look at to diagnose a metabolic disease?
Substrates: acylcarnitines (MCAD) Products: glucose (GSD I-glycogen storage disease) Byproducts: succinylacetone (type I tyrosinemia) Enzyme: hexosaminidase (Tay-Sachs disease) Gene: aldolase B (HFI)
55
What was the PKU treatment discovered in 1953?
Bickel found that restriction of dietary phenylalanine intake prevents mental retardation. He found the diet must be instituted before any significant symptoms are evident.
56
What are some treatments of PKU aside from diet?
Biopterin: allows more tolerance of Phe in diet as a chaperone therapy but very expensive Large natural amino acid supplements: Phe enters the brain via LNAA transporters so LNAA act as competitive inhibitors Enzyme replacement therapy: give enzyme that breaks down Phe either orally in intestines of parenterally in blood Gene therapy
57
What are the different types of prevention?
Tertiary; treatment of affected individuals to prevent séquelae (presenting clinically) Secondary: early diagnosis and treatment prevent morbidity, trying to find the disease before an individuals expresses it Primary: intervention to prevent disease, stop smoking
58
What is the current test for PKU?
Guthrie test Put a drop of blood on agar that contains a bacteria that is Phe dépendant in growth. Blood diffusés out radial, the concentration dropping as it goes. The larger the bacterial circle the higher the Phe and the higher the chance they have PKU Also used tandem mass spectronomy
59
Describe the Wilson and jungner criteria
Disease characteristics: serious, natural history understood, preclinical stage (high prevalence, period before overt disease) Screening test: sensitive and specific, simple and cheap, safe and acceptable, reliable Diagnosis and treatment: facilities are adaquste, effective acceptable and safe treatment available
60
What are lysosome storage disorders?
Results from the disruption in the sequential degradation of by-products or cellular turnover Most are autosomal recessive disorders excepts for Danon, fabry, and hunter syndrome Results in storage of hndegraded substrate
61
How are mitochondrial disorders classified?
Small molecule disease: carbs, amino acids, organic acids, purines/pyrimidines Organelle disease: lysosomal, peroxisomal, mitochondrial, golgi/ER
62
What is MCAD deficiency?
As fatty acids are shortened via fatty acid oxidation, enzymes don’t work as well with smaller chains resulting multiple enzymes overlapping in the cycle in normal bêta oxidation Occurs when one enzyme defect blocks remaining chain Risk factor: infancy (30% risk of death due to severe fasting hypoglycaemia, 30% risk of beurocognitive disability) Treatment is highly effective/simple using intravenous glucose and avoiding fasting