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DIT Part 2 Flashcards

1
Q

What happens in ketogenesis

A

in the liver, Fatty acids and Amino Acids are metabolized to acetoacetate and then (with NADH) to beta-hydroxybutyrate. These are to be used in muscle and brain

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2
Q

What are the main ketone bodies

A

Acetoacetate

Beta-hydroxybutyrate

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3
Q

RLS for ketone synthesis

A

HMG-CoA synthase (NOT REDUCTASE)

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4
Q

Acetoacetate sponteously becomes

A

Acetone

note the fruity smell to breath

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5
Q

Urine test for ketone bodies tests for

A

Tests for Acetoacetate

NOT beta-hydroxybutyrate

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6
Q

Why does drinking alcohol stop gluconeogenesis

A

Liver regenerates NAD+ by converting pyruvate to lactate

converting oxaloacetate to malate

resulting in a severe fasting hypoglycemia by patients who consume a lot of alcohol in a fasting state

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7
Q

what can the body do with acetyl-CoA

A

TCA cycle
FA synthesis
Cholesterol synthesis
Ketone synthesis

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8
Q

What is seen in kwashiokor

A

FLAME

  • Fatty Liver (no production of ApoB-100, to make particles with cholesterol and triglycericdes)
  • Anemia
  • Malnutrition
  • Edema

(also skin lesions and depigmentation of skin and hair)

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9
Q

what happens in Refeeding syndrome?

A

drop in serum levels of mg, phosphate potassium which can lead to arrhythmias and neurological problems

Overall depletion of ATP

Why you need to take it slow and monitor

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10
Q

What are risks for hepatocellular carcinoma

A 
Hep B and C
Hemochromatosis
alpha1-antitrypsin deficiency
Hepatic adenoma
Any type of Cirrhosis
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11
Q

TCA overdose symptoms

A

convulsions
coma
cardiotoxicity

hyperpyrexia
respiratory depression

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12
Q

Apo B-48

A

Chylomicron secretion from enterocyte to lymphatic system

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13
Q

ApoB-100

A

Found on VLDL, IDL, and LDL

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14
Q

Apo E

A

Mediates extra remnant uptake

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15
Q

Apo A-I

A

Activates LCAT, found on HDL

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16
Q

Apo C-II

A

Cofactor for lipoprotein lipase

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17
Q

Chlylomicron has what apoproteins

A

Apo E, Apo A-I, Apo C-II, Apo B-48

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18
Q

Chylomicron remnant has what apoproteins

A

Apo E, Apo B-48

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19
Q

VLDL has what apoproteins

A

Apo E, Apo C-II, Apo B-100

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20
Q

IDL has what apoproteins

A

Apo E, Apo B-100

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21
Q

LDL has what apoproteins

A

Apo B-100

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22
Q

HDL has what apoproteins

A

Apo E, Apo A-I Apo C-II

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23
Q

Abetalipoproteinemia mechanism

Presentation

A

Autosomal recessive disorder with decrease in ApoB-48 and ApoB-100

mech: inability to generate chylomicrons, cecreased secretion of cholesterol, VLDL into bloodstream, fat accumulation in enterocytes

Presents w/

  • Failure to thrive in early childhood
  • Steatorrhea
  • acanthocytosis (spikey RBC due to alteration in membrane lipids)
  • ataxia
  • night blindness
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24
Q

treatment of abetalipoproteinemia

A

Vitamin E

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25
Type I hyperchylomicronemia Mechanism Presentation Is it a risk factor for atherosclerosis
Autosomal recessive Mech: Deficiency of lipoprotein lipase or Defective apolipoprotein C-II Presentation: Pancreatitis (from increased triglycerides), hepatosplenomegaly, pruritic xanthomas No increased risk for atherosclerosis
26
Type IIa familial hypercholesterolemia Mechanism Presentation
Autosomal dominant Mech: Absent or decreased LDL receptors. Presents with Tendinous xanthomas (achilles), Corneal arcus, accelerated atherosclerosis, MI in 20s (for double dominant mutation)
27
Type IV hypertriglyceridemia Mech: Presentation
Autosomal dominant Mech: Overproduction of VLDL Pancreatitis (from increased triglycerides)
28
Signs of hyper cholesterolemia
Atheromas, plaques in blood vessel wall-oxidized LDL Xanthomas- plaques or nodules of histiocytes filled with lipid. esp around eyelid. Xanthelasma-xanthoma on eyelid Tendinous xanthomas-commonnly achilles, elbows, Corneal arcus-lipid deposition in the cornea
29
Fatty acid synthesis: | Precursor,Location, RLS
Acetyl-CoA is precursor, occurs in cytoplasm of hepatocytes, RLS is Acetyl-CoA carboxylase
30
Fatty acid degrdation: Location RLS
located in mitochondria, RLS is Carnitine acyltransferase-1 (aka carnitine palmitoyl transferase-1)
31
What is seen in carnitine deficiency? mechanisms and presentation
Inability to transport long chain fatty acids into the mitochondria, resulting in toxic accumulation Presents as weakness, hypotonia, hypoketotic hypoglycemia.
32
What are the essential amino acids
Private (PVT) TIM HaLL - Phenylalanine - Valine - Threonine - Tryptophan - Isoleucine - Methionine - Histidine - Arginine - Leucine - Lysine
33
Basic AAs
Lysine and arginine (extra ammonia group, positve charge at body pH) Histidine (although basic, has no charge at body pH) Arginine and histidine (during periods of growth) Arginine and lysine (NLS, high concentrations in histones)
34
Acidic AAs
Aspartate and glutamate | -negatively charged
35
Phenylalanine to Epi
``` Phenylalanine Tyrosine Dopa Dopamine NE Epi ```
36
What can arginine be turned into
Creatine Urea Nitric oxide
37
Vitamin B6 dependent AA derivatives
Ia. Tryptophan to Niacin to NAD/NADP Ib. Tryptophan to Serotonin to Melatonin II. Histidine to Histamine III. Glycine to porphyrin to Heme IVa. Glutamate to GABA IVb. Glutamate to Glutathione
38
RLS for Heme synthesis
Aminolevulinic synthase
39
Urea cycle RLS
Carbamoyl phosphate synthetase- I
40
CPS I vs. CPS II
CPS I gets nitrogen from ammonia, works in the mitochondria, and is in the urea cycle CPS II gets nitrogen from glutamine, works in the cytosol, and is in the pyrimidine synthesis
41
Ornithine transcarbamylase deficiency Presentation
``` Most common urea cycle disorder. X linked recessive Present in first few days of life Orotic acid in the blood and urine BUN is going to be decreased Hyperammonemia ```
42
Symptoms of hyperammonemia
``` Slurring of speech Somnolence Vomiting Cerebral edema Blurring of the vision ```
43
Treating hyperammonemia
Low protein diet If urea cycle problem: Phenylbutyrate Benzoate Biotin (stimulate ornithine transcarbamylase)
44
PKU causes
2 ways either missing phenylalanine hydroxylase or missing BH4 (tetrahydrobiopterin)
45
Why do you get neurotoxic effects in PKU
from high levels of phenylalanine, not due to phenylketones
46
what are the phenylketones
phenylacetate phenyllactate Phenylpyruvate
47
s/s of pku
``` growth retardation mental retardation seizures fair skin (no melanin) eczema musty body odor ```
48
dx of pku tx
screen at 2-3 days treat within first 3 wks of life tx: avoid phenylalanine (aspartame, dairy products,), augment tyrosine into diet, BH4 supplement could be necessar.
49
What happens to infant in gestational pku
phenylketones are toxic - microcephaly - intellectual disability - growth retardation - congenital heart defects
50
Alkaptonuria mechanism
congenital autosomal recessive and benign deficiency of homogentisate oxidase in the degradative pathway of tyrosine to fumarate.
51
s/s in alkaptonuria
dark connective tissue, brown pigmented sclerae, urine turns black on prolonged exposure to air. Debilitating arthralgias
52
Albinism causes
- Tyrosinase deficiency - Defective tyrosine transport - Abnormal neural crest migration of melanocytes
53
what is a consequence of albinism
skin cancer more likely
54
Homocystinuria causes
1. Deficiency of cystathionine synthase 2. Decreased affinity of the cystathionine synthase for the pyridoxal phosphate 3. Deficiency of homocysteine methyltransferase
55
S/S homocystinuria
``` mental retardation, tall stature, osteoporosis kyphosis Atherosclerosis Subluxation of the lens (downward dislocation, c/f with marfans with upward dislocation ```
56
Cystinuria cause
defect of the renal tubular AA transporter for COLA (cysteine, ornithine, lysine, arginine), normally in the convoluted proximal tubule
57
s/s of cystinuria tx
Cysteine kidney stones tx: acetazolamide to prevent
58
Maple syrup urine disease cause
Deficiency of branched chain alpha-ketoacid dehydrogenase complex supposed to break down.. Isoleucine Leucine Valine alpha ketoacids build up in the urine and blood
59
maple syrup urine disease s/s
intellectual deficiencies | Severe CNS defects
60
Hartnup cause
Autosomal recessive defect of transporter in intestine and kidneys leading to deficiency of neutral AA (tryptophan)
61
Hartup s/s
Pellagra (vitamin B3 deficiency) Dermatitis Diarrhea Dementia
62
Vitamin D toxicity causes
Too much vitamin D supplementation Sarcoidosis (increase in conversion of 25-OH D3 to 1,25-OH D3)
63
Vitamin K deficiency causes
Medications - Coumadin - Anticonvulsants (phenytoin) - Antibiotics
64
Types of Vitamin A
Retinol Retinal Beta-carotene (cleaved in intestine to 2 molecules of retinol) Retinoic acid not useful in body, but useful for treatment of certain diseases
65
Uses for Vitamin A
Mild to moderate acne (tretinoin) Mild severe acne (isotretinoin) [decrease size and secretion of sebaceous glands] Measles treatment AML (M3 subtype)
66
Vitamin A deficiency
Night blindness Xerophthalmia (pathologic dryness of conjunctiva and cornea resulting in -->corneal ulcerations and blindness) Keratomalacia (wrinkling and clouding of the cornea) Bitot spots (bulba conjucntiva, dry silvery gray plaques)
67
Vitamin A toxicity
headache N/V Stupor Increase in ICP (pseudotumor cerebri) Dry and pruritic skin Beta carotene skin orange which is not toxic. Hepatomegaly Cirrhosis Bone and joint pain Alopecia
68
What presentation of vitamin A toxicities can be seen
livers of bears (polar bears, or otherwise) Pregnant mothers (teratogenic)
69
Vitamin E other name
alpha-tocopherol
70
What does vitamin E do
antioxidant, prevents non-enzymatic oxidation of cell components by free radicals (especially important for RBC)
71
vitamin E deficiency
hemolytic anemia spinocerebellar degeneration resulting in ataxia peripheral neuropathy and proximal muscle weakness
72
Vitamin C metabolic actions
hydroxylation of prolyl and lysyl residues of collagen Converts dopamine to norepinephrine (required for enzyme dopamine beta hydroxylase) Anti-oxidant Facilitates iron absorption in the gut (keeps iron in reduced more easily absorbed state)
73
Scurvy/vit c deficiency
``` sore spongy gums loose teeth fragile blood vessels swollen joints hemarthrosis impaired wound healing anemia ```
74
What is the ddx for eosinophilia
DNAAACP ``` Drugs Neoplasm Atopic disease Addison's disease Acute interstitial nephritis Collagen vascular disease Parasites ```
75
What requires vitamin B1 (thiamine)
PDH alpha-ketoglutarate dehydrageonase transketolase
76
What are consequences of thiamine deficiency
Wernicke-Korsakoff Dry beriberi Wet beri beri
77
What is dry beriberi
``` nonspecific peripheral neuropathy with myelin degeneration toe drop wrist drop foot drop muscle weakness hyporeflexia areflexia ```
78
what is wet beriberi
Peripheral vasodilation High output heart failure Peripheral edema Cardiomegaly
79
B2 (riboflavin) deficiency symptoms
Cheilosis (inflammation of lips, scaling and fissures at the corners of the mouth) Corneal vascularization
80
B3 (niacin) deficiency symptoms
glossitis Pellagra Diarrhea Dementia Dermatitis
81
causes of niacin deficiency
Hartnup disease (decrease tryptophan absorption) Malignant carcinoid syndrome (increase tryptophan metabolism) INH (inhibits B6 and B3)
82
What can Niacin be used to treat
dyslipidemia, b/c increase HDL and decrease LDL.
83
Side effect of taking niacin?
Flushing rxn, which you can take aspirin 30 minutes prior
84
What is B5 used for
component of coenzyme A, transfer of acyl groups
85
Deficiency in B5
dermatitis enteritis alopecia adrenal insufficiency
86
metabolic fxn of B6
(Pyridoxal phosphate) coenzyme for numerous enzymes, transaminations, deaminations. converting AA precursors into... heme niacin histamine gaba dopamine NE EPI
87
B6 deficiency
similar to riboflavin (angular cheilosis, glossitis) unique is convulsions and hyperirritability and peripheral neuropathy
88
What can cause deficiency in B6
INH (same as B3)
89
B7 (biotin) role
apoenzyme for carboxylation reactions
90
B7 deficiency causes
Avidin in egg whites prevents absorption antibiotics
91
B9 (folic acid) fxn
synthesis of DNA and repair of DNA Synthesis of purines and pyrimidines rapid cell division and growth
92
Biologically active form of folic acid
tetrahydrofolate
93
how does b9 deficiency occur
medications - phenytoin - sulfonamides - TMP - MTX malnutrition Pregnancy (rapid growth of fetus)
94
B9 deficiency
Glossitis Diarrhea Depression Confusion
95
DNA virus characteristics
Double stranded Linear genomes Icosahedral Replicate in the nucleus
96
Exceptions to the DNA virus characteristics what are the DNA virus characteristics
Papillomavirus/Polyomavirus/Hepadnavirus: have circular DNA Parvovirus is ssDNA Poxvirus is non-icosahedral Poxvirus replicates in cytoplasm Double stranded Linear genomes Icosahedral Replicate in the nucleus
97
Live virus vaccines
``` Smallpox Yellow fever Chicken pox (varicella) MMR Sabine polio vaccine (oral) Herpes zoster vaccine Intranasal influenza Rotavirus ```
98
killed virus vaccine
injectable influenza rabies hepatitis A injectable Salk polio
99
Subunit vaccine
Hepatitis B | Human papillomavirus
100
Egg allergy concerns for vaccines
Yellow fever: skin test/desensitization Influenza: if no anaphylactic egg response MMR: no CI
101
Non-enveloped RNA virus
Calicivirus Picornavirus Reovirus Hepevirus
102
Non-enveloped DNA virus
Parvovirus Adenovirus Papillomavirus Polyomavirus
103
Viral reassortment, what is it what does it what is the consequence
among segmented genome RNA viruses, exchange genetic segments. shown in influenza. can have pandemics/epidemics due to significant change in surface antigens
104
Viral recombination found in what
Genes exchanged. progeny unlike progenitors found in DNA or RNA with DNA phase
105
Phenotypic mixing
Surface protein packaging is mixed. only works for the first generation of progeny.
106
What is the ploidy of viruses
Haploid Except Retrovirus have 2 copies of ssRNA
107
RNA viral genomic structure normally is exceptions
Most ssRNA Reovirus and Rotavirus have dsRNA
108
Positive sense RNA virus
``` Picornavirus Hepevirus Calicivirus Flavivirus Togavirus Coronavirus Retrovirus ```
109
Negative sense RNA virus
``` Orthomyxovirus Paramyxovirus Rhabdovirus Filovirus Bunyavirus Arenavirus Reovirus (dsRNA) ```
110
What can infect cells just by using their naked genome? Exceptions?
most dsDNA virus and ssRNA positive Poxvirus and hepatitis B are exceptions
111
What is pulsus paradoxus causes?
when Systolic BP drops by >10 mmHg with inspiration Caused by when the lungs are hyperinflated: - Asthma - COPD - Cardiac tamponade
112
what is the most common tumor of adrenal medulla in kids and what does it cause
Adrenal neuroblastoma Does not cause episodic HTN, can cause sustained HTN
113
What can ketoconazole mechanistically do aside from antifungal
Inhibits desmolase Inhibits 11beta-hydroxylase (antiandrogen and antiglucocorticoid)
114
What is ketoconazole used for aside from antifungal?
2nd line treatment for advanced prostate cancer and for suppresion of glucocorticoid synthesis in treating Cushing's syndrome
115
What features characterize a deficiency in 3beta-hydroxysteroid dehydrogenase
Inability to produce: - glucocorticoids - mineralocorticoids - androgens - estrogens Excessive sodium excretion in the urine Early death
116
What features characterize a deficiency in 17alpha-hydroxylase
Inability to produce sex hormones and cortisol-->phenotypic female who is unable to mature Increased production of mineralocorticoids-->HTN
117
What features characterize a deficiency in 11beta-hydroxylase
Inability to produce: - Cortisol - Corticosterone - Aldosterone Increased production of deoxycorticosterone (weak mineralocorticoid)--> HTN Increased production of sex hormones-->
118
What features characterize a deficiency in 21 alpha-hydroxylase
Inability to produce cortisol-->elevated ACTH Inability to produce mineralocorticoids-->hypotension and salt wasting Increased production of sex hormones-->masculinization
119
what patient groups must avoid fluoroquinolones
children pregnant women (joint and cartilage toxicity)
120
Causes of Cushing Syndrome
- Exogenous steroid use - ACTH producing pituitary adenoma (cushing disease) - Ectopic ACTH production (small cell lung cancer) - Cortisol producing adrenal adenoma
121
Glucocorticoid toxicity symptoms
BAM, CUSHINGOID ``` buffalo hump amenorrhea moon facies crazy ulcers skin changes hypertension infection necrosis of femoral head glaucoma (and cataracts) osteoporosis immunosuppression diabetes ```
122
what is glucocorticoids antiinflammatory response from (mechanism)
Inhibits cyclooxygenase and phospholipase A2
123
What does cortisol do
Maintains BP (upregulate alpha1 arteriole receptors) Increase gluconeogenesis Increase lipolysis Increase proteolysis Suppresses immune system Suppresses inflammation
124
why use dexamethasone for testing cause for excess cortisol?
dexamethasone test, this works b/c does not interfere with the cortisol assay
125
Most common causes of cushing syndrome
Exogenouse steroid use Ectopic ACTH secretion ACTH secreting pituitary adenoma Adrenal tumor that secretes cortisol
126
what is treatment for nephrogenic diabetes insipidus and how do these treatments work
Hydrochlorothiazide-help concentrate urine Amiloride-treats nephrogenic diabetes insipidus caused by lithium toxicity (by closing ENac channels that lithium comes in through) Indomethacin-reduce renal blood flow
127
how do acidosis and alkalosis affect extracellular potassium concentrations why does this occur
Acidosis is higher extracellular K+ concentration Alkalosis is decreased extracellular K+ concentration cells have a H+/K+ countertransport
128
Schizotypal
personality disorder with interpersonal awkwardness, odd thoughts, odd appearance, strange behavior
129
Schizophrenia
delusions or hallucinations with or without negative symptoms Greater than 6 months
130
schizoaffective disorder
schizophrenia symptoms with mood disorder
131
schizoid
personality disorder with voluntary social withdrawal
132
schizophreniform
schizophrenia symptoms that last more than 1 month but fewer than 6 months
133
What are causes of secondary hyperaldosteronism
Renal artery stenosis Congestive heart failure Low protein states (cirrhosis or nephrotic syndrome)
134
what is pheochromocytoma associated with
MEN 2A and 2B Neurofibromatosis I EPO->polycythemia
135
What tumors can secrete erythropoietin
Pheochromocytoma Renal cell carcinoma Hemangioblastoma Hepatocellular carcinoma
136
treatment for pheochromocytoma
First alpha blocker (phenoxybenzamine) Second, beta blocker for reflex tachycardia. Third, surgical resection DO NOT DO BETA BLOCKER FIRST BECAUSE THIS CAN RAISE BP HIGHER.
137
Adrenal neuroblastoma is what
tumor of sympathetic ganglion cells most common tumor of adrenal medulla in children.
138
What does adrenal neuroblastoma cause how can you dx?
not episodes as pheochromocytoma, but causes mild HTN Monitor HVA and VMA for diagnosis
139
Associations with adrenal neuroblastoma?
N-myc oncogene Bombesin tumor mark Neurofilament stain Homer wright pseudorosettes
140
What does MEN 1 cause
-Parathyroid adenoma -Pituitary adenoma -Pancreatic tumor (leading to.. Gastrinoma Insulinoma Glucagonoma VIPoma)
141
What does MEN2A cause
- Medullary thyroid cancer - Pheochromocytoma - Parathyroid hyperplasia (not adenoma as in MEN1, all the glands are a problem not just the one)
142
What does MEN2B cause
- Medullary thyroid cancer - Pheochromocytoma - Oral and intestinal ganglioneuromatosis (mucosal neuromas)
143
What gene is associated with MEN2A and MEN2B
RET oncogene
144
Presentation of Addison disease
``` Hypotension Hyponatremia Hyperkalemia Weakness Malaise Anorexia Weight loss Skin hyperpigmentation ```
145
Cause of Addison disease
Autoimmune destruction of adrenal glands leading to decreased production of aldosterone and cortisol
146
MEN1 MEN2A MEN2B what tumor locations are associated with these 3 different types of multiple endocrine neoplasia
Parathyroid Pituitary Pancreas Parathyroid Pheochromocytoma Medullary thyroid cancer Pheochromocytoma Medullary thyroid cancer Mucosal neuroma
147
What would a lab detect in the plasma and urine of a patient with pheochromocytoma?
plasma - metanephrine - normetanephrine urine -VMa (vanillylmandelic acid)
148
Most common tumor of the adrenal
benign, non-functioning adrenal adenoma
149
Most common cause of primary aldosteronism
Adrenal adenoma (conn syndrome)
150
Conn syndrome presentation
(hyperaldosteronism) - HTN - Hypokalemia - Metabolic alkalosis
151
why does primary hyperaldosteronism cause metabolic alkalosis
1. Decreased potassium leads to urinary H+ loss | 2. As potassium goes down, cells try to pump potassium out and inherently H+ in via the cotransport
152
Stages of behavioral change
``` I. Precontemplation II. Contemplation III. Preparation IV. Action V. Maintenance ```
153
What is the characteristic sequence of the promoter region
- 25: TATA box (Hogness box) | - 75: CAAT
154
What does a mutation in the promoter region cause
decrease in transcription of gene
155
Which causes of vaginal discharge/vaginitis will the pH be high? In which will the pH be low?
Low pH (normal) - Physiologic discharge - Candida High pH: - Bacterial vaginosis (Gardnerella, mobiluncus) - Trichomonas
156
mechanism of PTU Clinical use SE
inhibits both peroxidase and 5' deiodinase Preferred for pregnant women in first trimester SE: Agranulocytosis, liver dysfunction
157
mechanism of Methimazole Clinical use SE
inhibits peroxidase only (not 5'-deiodinase) Preferred in general (and 2/3rd trimester in preg) SE: Agranulocytosis, fetal aplasia cutis (Scalp defect)
158
function of thyroid hormone
Bone growth (synergism with GH) Increase Beta 1 receptors in heart Increase BMR (via increase Na/K ATPase activity) Glycogenolysis/gluconeogenesis/lipolysis
159
What is Graves' disease associated with
HLA-DR3 and HLA-B8 4:1 female predominance
160
Toxic multinodular goiter, what is it, MOA
Focal patches of hyperfunctioning follicular cells working independently of TSH due to mutation in TSH receptor
161
Jod-Basedow phenomenon
Tyrotoxicosis if a pt with iodine deficiency goiter is made iodine replete
162
Subacute thyroiditis (de Quervain) Findings Associated with?
self limited hypothyroidism often following a flu-like illness. May be hyperthyroid early in course Findings: increased ESR, jaw pain, early inflammation, very tender thyroid (Quervain is assoc with pain) Assoc: HLA-B35, with female predominance Viral infections
163
Treatment of thyroid storm
Beta blocker PTU or methimazole Prednisolone
164
what is hashimotos assoc with
HLA-DR5 and HLA-B5
165
Most common cause of hypothyroidism
Hashimotos thyroiditis (autimmune, antithyroid peroxidase, anitthyroglobulin antibodies)
166
Risk of hashimotos
increased risk of non hodgkin lymphoma
167
Presentation of hashimoto thyroiditis
may be euthyroid or hyperthyroid early in course due to thyrotoxicosis during follicular rupture Histo: Hurthle cells, lymphoid aggregate with germinal centers Moderately enlarged nontender thyroid
168
subacute thyroiditis (de quervain) vs. hashimoto thyroiditis
Subacute thyroiditis is granulomatous infiltration vs. Hashomoto's lymphocytic inflammation Subacute is PAINFUL goiter, hashmoto is PAINLESS goiter
169
Riedel's thyroiditis how does it present histo? complication? proposed mechanism?
fixed, hard, rock-like painless goiter. Similar to Undifferentiated/anaplastic carcinoma (but that is seen in older people) HIsto: Fibrosis macrophages Eosinophils complicated by fibrosis extending to local structures (airway) mimicking anaplastif carcinoma IgG4-related systemic disease
170
medical causes of hypothyroidism
- Amiodarone - Tyrosine kinase inhibitors - Lithium
171
what types of thyroid cancer are there
``` papillary carcinoma follicular carcinoma medullary carcinoma undifferentiated/anaplastic carcinoma lymphoma ```
172
Papillary carcinoma of thyroid occurence/prognosis Histo findings? Risk factors?
Most common, with excellent prognosis Empty appearing nuclei (Orphan annie eyes), Psamomma bodies, nuclear grooves, increased risk with: RET and BRAF mutations, or NTRK1, Radiation and Tobacco [activation of tyrosine kinase receptor]
173
Follicular carcinoma of thyroid Occurance/prognosis Histo Complication risk factors
2nd most common, prognosis okay uniform cuboidal cells lining follicles, invades thyroid capsule (unlike follicular adenoma), Can spread hematogenously Risk: - RAS mutation - PAX8-PPAR gamma1 rearrangement
174
Medullary carcinoma of thyroid Histo? Association? Tx?
From parafollicular C cells, produces calcitonin Sheets of cells in an amyloid stroma Assoc with MEN2A and MEN2B (RET mutations) [activation of tyrosine kinase receptor] Tx: No response to radioactive treatment, so only surgery
175
Undifferentiated/anaplastic carcinoma of thyroid
Poor prognosis, found in older patients. Similar to Riedel ( except that is in younger pt.) Invades local structures
176
Lymphoma of thyroid
assoc w/ hashmoto thyroiditis
177
Surgical complications for thyroid removal
Parathyroid damage/removal -Hypocalcemia Dmg to recurrent laryngeal nerves -hoarseness
178
What rises in hypothyroidism
LDL | Total cholesterol
179
What are the causes of hypertrophic cardiomyopathy
most familial autosomal dominant (beta-myosin heavy-chain mutation) Friedreich ataxia
180
Causes for dilated cardiomyopathy
``` ABCCCD alcohol abuse wet Berberi Coxsackie B virus myocarditis Cocaine use Chagas disease Doxorubicin toxicity Hemochromatosis and peripartum cardiomyopathy ```
181
causes of restrictive cardiomyopathy
Sarcoidosis Amyloidosis Postradiation fibrosis Endocardial fibroelastosis (thick fibroelastic tissue in endocardium of young children) Loffler syndrome (endomyocardial fibrosis with prominent eosinophilic infiltrate) Hemochromatosis (dilated cardiomyopathy may also occur)
182
What is the biochemical pathway of sorbitol?
Glucose to Sorbitol to Fructose Enzymes are Aldose reductase Sorbitol dehydrogenase
183
What tissues have aldose reductase but do not have sorbitol dehydrogenase (leading to sorbitol trapping)
Schwann cells Lens Retina Kidney
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Diabetic ketoacidosis vs. HHS
DKA: - Ketosis - No serum hyperosmolarity - Hyperglycemia (>300) HHS: - No ketosis - Serum hyperosmolarity - Extreme hyperglycemia (>800)
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for Type II diabetes, what are the drug medication classes useful
``` Biguanides Sulfonylureas Thiazolidinediones DPP-4 inhibitors GLP-1 agonists Others ```
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Biguanides (Metformin) Other uses Effects SE
Effective, low risk for hypoglycemia, no wt gain, low cost, few SE. can be used in patients without pancreatic fxn. Other uses: prediabetes and PCOS Effects: - Decrease gluconeogenesis in the liver - Decrease LDL - Decrease triglycerides - increase glycolysis - increase peripheral glucose uptake (insulin sensitivity) SE: - GI upset - Lactic acidosis (CI in renal failure)
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Sulfonylureas Mech Examples SE
Close K+ channel in beta-cell membrane so cell depolarizes resulting in insulin release. REQUIRES PANCREATIC FXN Glimepriride/Glipizide/Glyburide (more problems with hypoglycemia, so not used much) SE: Hypoglycemia and wt gain
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Thiazolidinediones action mechanism, resulting in... SE Risks
increased sensitivity to insulin in the peripheral tissue Mech: binds to PPAR-gamma receptor, results in - regulates fatty acid storage - regulates glucose metabolism SE: - Weight gain, - Edema, - Hepatotoxicity, - Heart failure Risks: - Risk of MI (Rosglitazone) - Risk of bladder cancer and osteoporosis (Pioglitazone)
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DPP-4 inhibitors Examples General description Mech
Sitagliptin/Alogliptin/Saxagliptin/Linagliptin Low risk of SE, hypoglycemia, and is wt neutral. But not as effective. Prevent's DPP-4s inactivation of GLP-1
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GLP-1 analogs examples Mech SE: CI:
Exenatide/Liraglutide Mimic incretins, decreasing glucagon secretion and increasing insulin secretion, delayed gastric emptying SE: increased risk for acute pancreatitis, nausea CI: insulin use
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Amylin analogs examples Mech Use SE
Pramlintide Decreases glucagon secretion and gastric emptying USE: only in patients taking insulin, but either Type 1 and Type 2 DM SE: hypoglycemia, nausea, diarrhea
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alpha-glucosidase inhibitors examples Mech SE:
Acarbose/Miglitol Inhibits intestinal brush border alpha glucosidases-->delayed sugar hydrolysis and glucose absorption leading to decrease in postprandial hyperglycemia SE: GI disturbances
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standard Treatment for DKA
IV fluids IV insulin Potassium replacement
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standard Treatment for DM type I
Insulin
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standard Treatment for DM type II
Low carb diet, wt loss, oral hypoglycemic agents, insulin
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type 2 dm drug with lactic acidosis as rare but worrisome side effect
Metformin
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type 2 dm drug with hypoglycemia as most common SE
Sulfonylureas
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type 2 dm drug with recommended first line treatment for most patients
Metformin
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type 2 dm drug with Not safe in settings of hepatic dysfunction or CHF
TZD (Thiazolidinediones)
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type 2 dm drug with should not be used in patients with elevated serum creatinine
Metformin
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type 2 dm drug with Should not be used in pt with cirrhosis or inflammatory bowel disease
alpha-glucosidase inhibitors
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type 2 dm drug with not associated with wt gain
Metformin
203
type 2 dm drug with metabolized by liver, excellent choice in pt with renal disase
TZDs
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type 2 dm drug with MOA closing potassium channel on beta cells, epolarization, ca influx, insulin release
Sulfonylureas
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type 2 dm drug with MOA inhibits alphaglucosidase at intestinal brush border
Alphaglucosidase inhibitors (acarbose/Miglitol)
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type 2 dm drug with MOA agonist at PPARgamma receptors leading to improved target cell response to insulin
TZDs
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type 2 dm drug with MOA decreasing hepatic gluconeogenesis
Metformin
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type 2 dm drug with good for wt loss
GLP-agonists
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type 2 dm drug with Avoid in hypoglycemia
sulfonylureas
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type 2 dm drug with Best treatment for anyone with organ failure
Insulin
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Pt with normally well controlled type I diabetes but gets DKA. what is the diff dx?
``` infection dehydration nonadherence to insulin severe medical illness (MI or trauma) steroids alcohol or drug abuse ```
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Leptin action
Inhibits Lateral hypothalamus Stimulates ventromedial nuclei Both reslut in satiety
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What is seen in kwashiokor
skin lesions edema liver function
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what is seen in marasmus
tissue and muscle wasting | loss of subcutaneous fat
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what vitamins should vegetarians supplement in their diet
vitamin B12
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Anti-GBM antibodies (IF)
Goodpasture syndrome
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Kimmelstiel-Wilson lesions
Diabetic nephropathy
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Spike and dome appearance
Membranous glomerulonephritis
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Tram track appearance of subendothelial humps
Membranoproliferative glomerulonephritis
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subepithelial humps
Acute poststreptococcal glomerulonephritis
221
RLE of heme synthesis and its required cofactor
aminolevulinic acid synthase Vit B6 is required cofactor
222
What makes aminolevulinic aci
glycine and succinyl CoA
223
Acute intermittent porphyria, what causes it how does it present tx
deficiency in porphobilinogen deaminase (uruporphyrinogen 1 synthase) presents as the 5 P's - painful abdomen - port wine urine - polyneuropathy - psychological disturbances - precipitated by drugs (barbiturates, seizure drugs, rifampin, metoclopramide) tx: glucose and heme, which inhibits the ALA synthase
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Porphyria cutanea tarda cause presentation associations
most common form of porphyria deficiency in uroporphyrinogen decarboxylase presents: - blistering of the skin - tea colored urine - hypertrichosis - facial hyperpigmentation assoc with: Hepatitis C Alcoholism Elevations of your LFTs
225
How does lead poisoning effect heme synthesis? presentation Tx
- ALA dehydratase - Ferrochelatase (leading to increased levels of protoporphyrin in RBC) presents: microcytic anemia, GI and kidney disease Children:exposure to lead paint leading to mental deterioration Adult: environmental exposure leading to headache/memory loss/deyelination Encephalopathy/Memory loss and delirium and mental deterioration/Foot drop or wrist drop lead lines in gingevae (burton lines) sideroblastic anemia in BM Basophilic stippling in RBC abdominal colic renal failure tx: EDTA or succimer in either kids or adults Dimercaprol and succimer for severe in kids
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What tumors can increase EPO?
Potentially Really High Hematocrit Pheochromocytoma Renal cell carcinoma Hepatocellular carcinoma Hemangioblastoma *trisomy 21 at birth
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Where does fetal erythropoesis occur?
yolk sac 3-8 wks liver and spleen bone marrow after 28 weeks
228
in which adult bones does erythropoiesis take place?
Vertebrae, ribs, pelvis
229
what substrate and cofactor for generating GABA
Glutamate and B6
230
what can iron deficiency manifest as
Plummer-Vinson syndrome: Iron deficiency anemia Esophageal webs Atrophic glossitis
231
how do you distinguish folate from B12 deficiency in megaloblastic anemia
B12 has neurologic deficits (peripheral neuropathy/dementia) Folate deficiency, MethylMalonicAcid will be normal (b12 will be increased)
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Causes of macrocytic nonmegaloblastic anemia
``` Liver disease Alcoholism Reticulocytosis leading to increased MCV Drugs: -5-FU -Zidovudine -Hydroxyurea ```
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Causes of normocytic nonhemolytic anemia
Anemia of chronic diseas e(can go to microcytic) Aplastic anemia CKD
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women develops intense muscle cramps and darkening of her urine after exercise.
McArdle disease
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Immune thrombocytopenia (ITP)
antibodies bind to 2b/3a on the surface of platets-->immune system removes and destroys those platelets Plateet count is low Increased megakaryocytes on BM biopsy tx:Steroids, IVIG, Splenectomy
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Thrombotic thrombocytopenic purpura (TTP)
Widespread platelet thrombosis, thrombocytopenia because used up Bleeding and purpura Deficiency in metalloprotease ADAMTs13, normally cleaves vWF multimers into smaller active vWF units.excessive platelet activation and aggregation.
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HUS-hemolytic uremic syndrome associated with
classic triad, milder form of TTP - hemolysis - renal insufficiency - thrombocytopenia associated with E. coli 0157:H7 infectino
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TTP pentad
FAT RN or Nasty Fever Torched His Kidneys - hemolysis - renal insufficiency - thrombocytopenia - neurological symptoms - fever
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von Willebrand disease tx:
defect of vWF so... - Increase in PTT (normally stabilizes and protects factor VIII) - Prolonged bleeding time (Binds to subendothelial collagen and to glcyoprotein 1b) tx: DDAVP, desmopressin, which increases the release of vWF from endothelial cells
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DIC, disseminated intravascular coagulation
Widespread activation of clotting, consuming all platelets and coagulation factor results - prolonged bleeding time - increased PT and PTT - low fibrinogen - High D-dimer (fibrin split products) - Schistocytes - Bleeding - Multi-organ failure
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DIC causes
STOP Making Thrombi ``` Sepsis Trauma Obstetric complications Acute Pancreatitis Malignancy Transfusion ```
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fructose intolerance enzyme deficiency
aldolase b
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essential fructosuria enzyme deficiency
fructokinase
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classic galactosemia deficiency
galactose-1-phosphate uridyltransferase
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Wiskott Aldrich
WAITER - Wiskott - Aldrich - Immunodeficiency - Thrombocytopenia and purpura - Eczema - Recurrent pyogenic infections
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Hemosidinuria and thrombosis
PNH, paroxysmal nocturnal hemoglobinuria
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Leukemia vs. lymphoma
Leukemia is in bone marrow or may spill into peripheral blood Lymphoma is in lymph node
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what is Marginal cell MALToma associated with
Sjogren syndrome Hashimoto thyroiditis H. pylori
249
most common type of non Hodgkin lymphoma in adults? In children
adults: diffuse large B cell lymphoma Children: lymphoblastic lymphoma
250
How does multiple myeloma present
anemia renal insufficiency back pain hypercalcemia
251
Most common leukemia in children
ALL
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most common leukemia in adults in US
CLL
253
Myelodysplastic syndromes have a tendence to progress to
AML
254
Myeloproliferative disorders may progress to
AML
255
Numerous basophils, splenomegaly, negative for leukocyte alkaline phosphatase (LAP)
CML

Step 1 Journal RC (9 decks)

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