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Tarek Hassouna
47,XYY
Paternal cause @ meiosis II
-gamete receiving both copies of
one homolog (in this case YY)
Prophase
=> crossover
4 chromosomes
2 types
2 chromosomes 1 chromosomes
2 types – All x 2 1 types – All x 4
Can not flex
elbow!
Biceps brachialis
Biceps brachi
Brachial Plexus
Cannot ABduct! arm
Deltoids
Cannot extend
wrist
Claw hand –
lesioned by tauma
to heel of hand
-fracture of hook
of hammate
Nerve innervations of arm
Dr CuMa
Radial nerve injury = wrist drop
Ulnar nerve injury = claw hand
Median nerve injury = Ape hand
The hands
Lateral Meniscus
A blow from the lateral side of the knee causes a tearing of the medial
coll lig. – occurs among foot players
This occurs because of attachment of the lateral meniscus
which tears
Medial meniscus is associated with the ACL – so that also tears
Thus, you get the unhappy triad…
Postnatal derivates
fetal remanant
Umbilical vein Ligamentum teres hepatis - falciform
ligament
Umbilical arteries Medial umbilical ligament
Ductus arteriosus Ligamentum arteriosum
Ductus venosus Ligamentum venosum
Foramen ovale Fossa ovalis
allantois Urachus – median umbilical ligament
notochord Nucleus pulpos of invertebral disc
Celiac trunk
Spleenic
Left gastric
Gastroduodenal
Left
Right gastroepiploic
gastroepiploic
Hesselbach Triangle Direct hernia
-hasselbech triangle
-medial to epigastric artery
-external ring!!!
indirect hernia
-internal deep ring
-into the scrotum –
compresses sperm chord
-infants
Contralateral
Most common site of CoW -homonymous hemianiopia with
aneurysm!! macular sparing
-visual field defects -visual changes
Locked in syndrome
- CNIII is intact
Nortrptyiline
Desipramine
Imipramine
Clomipramine
Amitriptyline
Adverse effects!!
Things to know!!
Anticholinergic effects!!
Impramine – eneuresis
Orthostatic HypoTN
Nortryptiline – least
Dry mouth + confusion +
orthostatic!!
sedation
Clomipramine – most
serotonergic TCA!!
Cardiac tox!!
MoA:
Treatment /DOC:
Reuptake inhibitor only
DOC!! – depression
for seratonin!!!
Premature ejeculation
Bulemia
OCD
Panic disorder
Fluoxetine
Citalopram
Sertraline
Escitalopram
Paroxetine
Adverse effects!! Fluvoxamine
Things to know!!
Nausea
DOC!!
Headache
Seratonin syndrome = 2
Diahrrhea
SSRI + 1 MAO
Restlessness + insomnia
Fluoxamine – OCD!
Seratonin syndrome
MoA:
Treatment /DOC:
Block the enzyme
monoamine oxidase
Tranylcypromine
Phenelzine
Adverse effects!!
Things to know!!
Must have tyramine free
tyramine free diet!!
diet!!
HTN crisis!!
-tx with phentolamine +
nitropurriside
Calculating + interpreting Risk
Risk Equation Interpretation
Odds ratio (a/b)/(c/d) = ad/bc Odds of having disease in
exposed group vs.
unexposed
Relative Risk a/(a+b) / c/(c+d) getting the disease
exposed vs. unexposed
Attributable risk (a/a+b)/(c/c+d) Difference
Exposed vs. unexposed
Diagnostic testing
Disease (+) Disease (-)
Test (+) TP FP
Test (-) FN TN
1 Light sleep
What to know
-coordinated electrical stimulation –
regularly irregular
- due to a loop of electricity in the upper
chambers of the heart.
Supraventricular tachycardia
What to know:
-repeated periods of very fast heartbeats begin and end
suddenly
-Same as paroxysmal SVT
Wolf-Parkinson White
Taruis Type VII Muscle PFK Excersize induced cramps Growth retardation
Weakness Haemolytic anemia
Hypernatremia
Hypernatremia
Hypovolemia Glycouria
Main cause!! – if water Diabetes insipdus Conns syndrome
Severe watery diahrrea
is down then Na+ Decreased Cushings disease
concentration rises vasopression
Hyponatremia
Hyponatremia
Nausea
Nausea
Severe Lidocaine toxicty –
Severe diahrrea
diahrrea Increased cortisol – Vomitting
Vomitting
SIADH
SIADH –– increased
increased ADH
ADH Small
Small cell
cell carcinoma
carcinoma prolonged
prolonged QT
QT interval
interval ––
Vomitting
Vomitting Addisons Headache
Headache Na+
Na+ channel
channel blocker
blocker
Malaise
Malaise
Hypercalcemia
Hypercalcemia
Cancer
Cancer –– T-cell
T-cell
GIT
GIT CNS
CNS Cardiac
Cardiac Renal
Renal Endocrine
Endocrine Respiratory
Respiratory leukemia
leukemia
Psychotic
Psychotic noise
noise Primary
Primary
Constipation
Constipation -- hardens
hardens Stones
Stones –– calcium
calcium hyperparathyroidism Small
Small cell
cell carcinoma
carcinoma ––
Depression
Depression Short
Short QT
QT interval
interval hyperparathyroidism
feces
feces oxalate
oxalate PTH
PTH secreted!!
secreted!!
Confusion
Confusion Lithium
Lithium use
use
Name of disease Genetics Enzyme deficient CP/Diagnosis/treatment Description
Fabrey’s disease X-linked recessive Alpha galactosidase A Deficiency results in the accumulation of
Angiokerotomes globotriacyl ceramide
- tiny painless papules on the body (thighs, - accumulates in blood and leads to impairment
buttocks, lower abdomen) of the blood vessel system
Vortex keratopathy
-destruction of cornea
-but this does NOT affect vision
Peripheral Neuropathy
CVD’s
Diagnosis
- fetal amniocentisis
- chorionic villus sampling
Treatment
- enzyme replacement
Goucher’s disease Autosomal recessive B-glucocerebrosidase Hepatospleenomegaly MOST common LSD!!!
Hyperspleenism - also called the “housekeeping” disease
- enhanced destruction of RBCs, WBCs, and Results in the accumulation of glycosylceremide
platelets => leads to anemia - deposits in spleen, liver, kidneys,
Cirrohsis bonemarrow and lungs
Osteoporosis - BUT, for some reason, there is no
Blood work abnormality seen in the heart, lungs, or
- increased alkaline phosphotase kidney
- increased ACE 3 types
- increased Ig levels - Type I => early life – no CNS involvement
Treatment - Type II => six months
- enzyme replacement - Type III => any age – systemic involvement
- mannose glucocerebroside
MG should be taken 60 units/kg – intravascular IV
every 2 weeks
Tay Saches Autosomal recessive Hexoamidase A Cherry red spots on macula – this is only Deficiency results in accumulation of GM2-
On chromosome 15 -def in alpha subunit suggestive!! gangliosidases
If Bsub – then Sanoff’s Optic atrophy Three types
disease Diagnosis - Type I – neonatal
- serum levels of hexoamidase should be - Type II – childhood
low - Type III – late onset
- whirling appearance in slides of tissue
- onion skin
Treatment
- substrate reductase therapy
Neimans Pick disease Autosomal recessive Sphingomyelinase Enlargement of sleep + liver Deficiency of sphingomyelin
Foamy cytoplasm
Enlarged lymph nodes
Death occurs within first year of life
Metachromatic leukodystrophy Autosomal recessive Aryl Sulfatase A Dementia Deficiency leads to accumulation of cerebroside
Ataxia sulfate
Treatment
- Bone marrow transplantation
- Stem cell transplantation
Mucopolysaccharideosis Autosomal recessive Alpha-2 iduronidase Corneal ulceration – clouding!! Deficiency results in accumulation of heparin
- Hurlers – most severe!!! Gargoylism sulfate + dermaton sulfate
Course facial features
Developmental delay
Diagnosis
- chorionic villus sampling
- amniocentisis
Treatment
- enzyme replacement
- Bone marrow transplant
- Umbilical cord transfusion
Mucopolysaccharideosis X-linked recessive Iduronate sulfatase Aggreesive “hunting” behavior Defiency leads to accumulation of leparin
- Hunters Treatment sulfate + dermaton sulfate
- enzyme replacement
Acid base disorders
pH = 6.1 log ([HCO3-]/(0.0301)PCO2
pH can be decreased by decreasing HCO3 or by increasing PCO2
pH can be increased by increasing HCO3 or by decreasing PCO2
O2 affinity
deccreases!!
In any case of
chronic blood
loss – there is
less Hb
avalible!! –
function of it is
still normal!!
Valvular disorder – left side of heart!!
Murmurs
Aortic Mitral
valve valve
pathology pathology
No pressure
Pressure gradient gradient Atrial pressure
Artial pressure increase at
b/w ventricular + between vent. increase at diastole systole
aoartic + aor.
Aortic Mitral
regurgitati Mitral
Aortic stenosis
stenosis on regurgitation
Hypervolemic/prolapsing LHF
S4 gallop lLHF
pulse
Opening snap Laterally displaced apex
LVH Early diastolic murmur
Midsystolic Loud S1 Pansystolic murmur
Descendo
murmur Middiastolic Thrils towards the axilla
Best heard leaning
Thrills – radiation forward Crescendo Loud P2
to carotix Plato
Visible suprasternal
Reverse S2 split pulsations S3 gallop
Split S2
Valvular disease – right side
Murmurs
Ventricular
Atrial pressure
pressure >25 >5 mm Hg
mmHg
Pressure No pressure
Atrial pressure Artial pressure
gradient b/w gradient
increase at increase at
ventricular + between vent.
diastole systole
aortic + aor.
JVP – prominent
RHF + Pul HTN Early diastolic JVP – giant A wave Y descent
murmur
JVP – prom A wave Mid-diastolic JVP – large v
murmur wave
Parasternal heave
Midysystolic murmur Best heard on Parastenal heave
inspiration
Thrill – radiation to left Pansystolic
shoulder murmur
S2 split
Increased
Insulin
Dec. GNG
Dec. Glycogenolysis Decreased
increased Inc. glucose uptake
lipogenesis breakdown Increased glucose Increased FAA Increased
Increased glycolysis
Increased uptake syn Increased glycolysis AA uptake
Increased
glycogenesis
lipolysis Increased glycerol Decreased Inc. glycogenolysis Increased
synthesis lypolysis protein
synthesis
Glucose
Glycolysis
Uridyl transferase Galactokinase
Hexokinase ATP -> ADP + Pi Phosphogluco
+ GIT mutase
G6P Glu-1P Gal-1P Galactose
G6P Isomerase
CP: - vomiting, jaundice, hyperbilremia,
Deficiency leads to
F6P
hyperglycemia, lethargy, cirrohsis galatosemia + galatosuria
ATP -> ADP + Pi Treatment – eat/drink milk products •causes cataracts and
-ATP, Citrate, Glucogon mental retardation at young
F26-BP
PFK 1 inhibit PFK1 in high ages
PFK II amounts
F16-BP
F1P Fructose
transfusion Phosphoenolpyruvate
Enolase Pyruvate
+ H2O Kinase Pyruvate
Inhibited by Cortisol
Cell wall release
phospholipase
PLC PLA2
Lipoxygenase
20 carbon
Arachnoic acid
Inhibited by
indomethicin
Facilitates HPETE (hydroperoxyeicosatetranoic acid)
closer of PDA Leukocyte
COX1,2 chemotaxis
Leukotriens
Inhibited by asprin
Celecoxib
Prostoglandins
Inhibition of platelet
Note: All 3 eicosinoids induce inflammation!!!
aggregation;
Redness—An insect's sting will trigger the classic inflammatory response. Short acting vasoconstrictors — TXA2—are
vasodilation;
released quickly after the injury. The site may momentarily turn pale. Then TXA2 mediates the release of the
vasodilators PGE2 and LTB4. The blood vessels engorge and the injury reddens.
Prostacyclin
Swelling—LTB4 makes the blood vessels more permeable. Plasma leaks out into the connective tissues, and they swell. Stimulation of platelet
The process also looses pro-inflammatory cytokines – C5a + bacterial products aggregation;
vasoconstriction
Pain—The cytokines increase COX-2 activity. This elevates levels of PGE2, sensitizing pain neurons.
Thromboxane
Heat—PGE2 is also a potent pyretic agent. Aspirin and NSAIDS—drugs that block the COX pathways and stop
Beta Oxidation
Source ATP Total
1 FADH2 X 2 ATP 2 ATP
1 NADH X 3 ATP 2 ATP
1 acetyl CoA X 12 ATP 12 ATP
Total 17 ATP
C(2n)
(n-1) 14 + 10 -2 = total ATP
Ex. Palmitate - 16 carbons – C2(8) - n=8
8-1 x 14 + 10 – 2 = 106 ATP
Source ATP Total
7 FADH2 x 2 ATP = 14 ATP
7 NADH x 3 ATP = 21 ATP
8 acetyl CoA x 12 ATP = 96 ATP
Activation = -2 ATP
NET = 129 AT
Apoprotein
Apoproteins
Function Deficiency
Apo B APOB "unlocks" the doors High levels =>
to cells and thereby atherosclerosis + heart
delivers cholesterol to disease
tissues
Low levels => fat mal
From Intestine to tissue absorption - because fat
cannot be transported!
Apo B100 => VLDL
Apo B48 => chylomicrons
Apo A Aka HDL - the good Low levels =>
cholesterol ! atherosclerosis
Apo C Activates lipoprotein Low levels – impairs
lipase- degrades lipoprotein lipase
chylomicrons -heparin injection test
Assessing Assessing
-RBF -RPF
-GFR -PAH
Prerenal pathologies – results in afferent constriction!!!
-Creatinine -BUN
-decreased RBF
-Inulin
-decreased GFR
-increased Creatinine in plasma!!! – why? Because bowmens oncotic pressure is decreased – thus, “sucking power” is decreased!!!
In response
-renin -> ang II constricts efferent arterioles
-decreased RPF
-decreased PAH
-decreased BUN in blood
Excretion rate V X Ux
Left ventricle assessment
Aortic regurgitation– Soft S2
Nephrotic
syndrome
Non-
Proliferative proliferative
Type Type
II HS II HS Wegners
Microscopic
granulomato
polyangitis
sis
Goodpasture Post Diffuse IgA
s strep proliferative GN nephro/berge
rs C-ANCA
Linear IF - antiBM Lumpy-
bumpy Wiring loop Saddle nose pANCA
Poor prognosis deformitiy
Subepithelial Subendothelial IC deposits in
Hemoptyisis + Ics – C3 Pulmonary
Anti-DNA Ics in mesagnium
oliguria mesagnium infections
Children
URTI Ass. With anti-
Acute gastritis neutrophil
antibodies
Obstructive vs. restrictive
parameter Obstructive Restrictive
Lung capacity Increased OR normal decreased
Residual volume increased Decreased
FEV decreased Decreased
FEV/FVC decreased increased
80% gone? <80% >80%
Cardio equations
Parameter Equation Key points
Or Also
MAP = (EDV-ESV) x CO x HR
-the more EDV, the more stroke volume
-the more ESV, the less stroke volume
TPR = MAP/CO
Thus, if you increase TPR, you decrease
CO!!
Decrease preload by
-venocilators - NO
Urea cycle
Deficiences + disease
Tyrosine -CP:
Dopamine During birth, child is normal
if its untreated child may develop
Catecholamines mental retardation
loss of motor control
Melalin
Input autistic symptoms
pale skin
Phenylalanine white blond hair
microcephaly
increased levels of phenylalanine
decreased social interaction
verbal/non-verbal communication problems
obsession
mousy odour!!!
Phenyl alanine Treatment – semisynthetic diet with reduced
phenylalanine
but because its essential, patient should take small
quantities
Aspartame – nutrasweet – should be completely
restricted from diet for life!!
Key enzymes Women who do not take enough Phe during pregnancy
have a high risk of having a child with
- microcephaly
- mental retardation of child
Phenylalanine hydroxylase -low birth weight
HG oxidase
Deficiency of HG oxidase leads to Alcaptonuria
its results from the accumulation of HG
increased excretion of HG
if patients urine is exposed to air, it turns dark colored
CP: Ochrosis
its an autosomal recessive disorder
results in pigmentation and calcification of bones and
cartlidge – leads to arthritis
Output
Seratonin
Melatonin
Nicotinate
Input
trytophan
Tryptophan
Deficiences + disease
Key enzymes
Hartnups disease!!
None we need to know
-defect in the reabsorption of the
AAs in the kidney – one of them is
tryptophan!!
-Pellegra like sympotomes
Diarhhea
Depression
Dermatitis
Sometimes cerebellar ataxia
Tryptophan
Output
HMG CoA
Acetyl CoA +
Propionyl CoA
Deficiences + disease
Input
BCAs Maple syrup urine disease
lethargy, dehydration, and vomiting
-hypotonia
BCAs -dramatic weight loss
-ketoacidosis (if untreated)- eventually leads to
Key enzymes coma and death
There are 5 types:
2-ketoacid dehydrogenase -classical MSUD *** MOST SEVERE
complex of enzymes -Intermediate MSUD
-Thiamine responsive MSUD
-Enzyme responsive MSUD w/ lactic acidosis
Propanoic acidemia
-deficeny in propionyl CoA carboxylase = met.
Acidosis, dehydrtation
-accumulation of propanoic acid
-drives formation of acetyl CoA to the formation of
ketone bodies
BSA disease hypoglycemia Ketoacidosis
MUSD increased Increased
Propanoic acidosis increased Increased more!
-drives formation of ketone
bodies form acetyl CoA
Methylmalonyl CoA Increased more! Increased more!
acidosis -accumulated
-inhibition of pyruvate methylmalonic + propanoic
carboxylase + acids
gluconeogenesis by
methylmalonyl CoA
Genetics USMLE problem
Population
Autosom
Autosom X-linked
al X-linked
al dominan
Dominan recessive
recessive t
t
Catalase Catalase
(+) (-)
Coagulase Coagulase
(+) (-) Hemolysis
Group D
Entercoccus S. Bovis
Capsulated bacteria
Organisms
Strep pneumonia
Klebsiella pneumonia
Bacillus anthracis
Haemophilus influenza B
Pseudomonos Aerug
Neisseria meningitis
Cryptococcus neoformans
Common causes of meningitis
Newborn (0-6 Children (6 months 6 – 60 years 60+
months) – 6 years)
Group B strep S. pneumonia S. pneumonia S. pneumonia
Translation
DNA mRNA
Bleeding disorder
Platele Coagulati
Mixed
t on
Lab Hemo Von
Factor Hemop Vit. K
- inc. bleeding philia Willibr DIC
VII def hilia A def
time B and
Decrease
-decreased Factor Factor
d PC,
platelet count Increased PT Factor IX II, VII, Increased BT
everythin
VIII IX, X Normal or
Glanzman Normal PT Normal g else
Bernar Soulier Idiopathic TP Thromb Increased increased increased
n Normal PT
otic TP PT PTT !!!
PT Increas
Normal PC Increased
Decreased Decreased PC Increase ed PTT
Increased Decreased PTT
PC d PTT
BT Increased BT PC
Increased BT Megakaryotcyt Increased
Decreased
Decreased GpIIb/IIIa es BT
GpIb Anti-GpIIb/IIIa Pentade!!
Ristocetin test!
Make slide on thalassemia
--/aa Two genes absent Mild anemia – but more fatal for next
generations -> death inutero
Direct Indirect
If agglutinates =>
If agglutinates =>
erythroblastosis
Hemolytic anemia
fetalis
Different types of immunity
Immunity
Active Passive
Painful Painless
Treponium – Syphilis –
HSV-2 Hemophilus Ducreyi Chlamydia
1stst degree
Transpulmonary = alveolar
– pleural
1) Any lung volume - transpulmonary pressure is equal
to and opposite to elastic recoil pressure of the lung
-thus, if elastic recoil pressure is (+) on exhalation, TP is
(-)
Digoxin
-directin inhibtions of
Na/K ATPase =
increased Ca2+ inside
cells – increases
Esmolol- Class II contractility
-decrease Ca2+ currents
-decreases slope of
phase 4
-increases PR interval
Adrenal physiology
Cholesterol
17
Pregnolone 17 OH preg Dehydroepialdosterone
Progesterone 17 17-OH
Androstenodione
Progesterone
21 21
11 – DOC 11 Deoxycortisol Testosterone
11 11
Corticosterone Cortisol DHT
Drug X
[drug] Cl = rate of elim / [drug]
plasma Vd = rate of elim/ [drug]Ke
Drug Y
Time
Prader Willi vs. Angelman
Maternal Paternal
Deleted Imprinted Deleted Imprinted
Prader Willi Yes Yes
-Chr. 15
Angelman Yes Yes
-Angelman
Galactose metabolism?
Enzyme Clinical presentation Accumulation
Galactokinase K for cataracts!!! Galactol
-galactosemia
-no smile
Uridyl transferase Jaudice Galactol
Hepatomegaly
Mental retardation
B-galactosidase Abdominal distention UDP galatose
Diahrrea
ANP production
Hypertension
ANP release in
response to
increased pressure
Atria Ventricles
Due to LV
Increased blood
hypertrophy due to
volume?
HTN
Kidney
-decreased
reabsorption of
Na+ H2O
parameter
Lab valuesNormal
– Renal
Value
BUN 10-20
Cr 1
Na+ 135-145
Cl- 98-108
K+ 3.5 – 5.5
HCO3 24
PCO2 40
P02 60-90
Glucose 70-100
P-Osm 300
U-Osm 350-450
P- 2-4
Mg 2-4
Ca2+ 8.8-10.8
Luman PCT(85%) Plasma
H+
HCO3
HCO3
Loop of Henle – ascending
Luman Plasma
Cl- What to know:
K+
Aldosterone
Na+
Clinical notes
-Thiazides that act here
cause hypokalemia
How? – Low volume
state – response is to PTH
increase aldosterone – Vit.D Ca2+
results in hypokalemia! ATPase
K+/H+ exchange
HCO3!!!!
-collecting duct – plasma
-major source of
to cells
bicarbonate absorption
Collecting ducts!!!
Urea cycle
Glutamine -> NH4 +
-NH3
Glutamate
Increased absorption
of ASA
• Mixed acidosis => you
Early are ingesting more acid
• Respiratory alkalosis and retaining more CO2
Later
• ASA gets absorbed
• Results in met. Acidosis +
Resp. Alk
• pH is NORMAL!!!
Renal tubular acidosis
RTA Urine pH K+ Notes
I increased decreased Stones!! Ca2+
Disfunctional K+/H+
channel @collecting
duct
II Decreased decreased PCT
Dec. HCO3
resorption
III Normal decreased Inherited
Carbanhydrase
deficiency
IV decreased increased Decreased
aldosterone
response
Collecting ducts
Lumen Plasma
Na+
Na+/K+ exchange Clinical
K+ -increased aldosterone =>
Alkalosis – thus,
spirolactone can induce
acidosis!!!
K+
Aldosterone
H+
Vagnial bleeding
Woman
Vaginal
Bleeding?
Increased Beta
Painless!!! Postmenapausal Pain!! HCG
Dexamethasone suppression test
Give Dex
Low dose
Still
Decreased
cortisol increased
cortisol
Decreased Increased
cortisol cortisol
Erosive Non-erosive
-
Increased in:
FSH
LH -ectopic pregnancy
-hyditaform mole
Parital = 69XXX
Complete – syn + cyto
androgens
aromatase Ovaries
General Special
Sweat Tongue
Saliva Muscle of eye Mastication
NONE!
Gut Muscles of tonge Swallowing
Pupil contriction Facial muscles
Sensory neurons
Afferent
General Special
Palate
Vision
Carotid Pain + temp in face + Taste
Hearing
Sinus ears smell
Equilibrium
tongue
Heart murmurs
Valve Systole Diastole (early) Diastole (late)
Non-haemolytic Hemolytic
ACD
Aplastic anemia Intravascular Extravascular
Kidney disease
S4 sound
-Bell apex – gallop
“Baboom-Boom”
-non-compliant ventricle
Aortic stenosis + LVH
S1 Split
-Baroom Boom
RBBB
If you hear... Then its Due to: KWs
Holosystolic Mitral regurg Ischemic heart disease Squatting on hand
blowing Tricupsid regurg Mitral valve prolapse grip!!!
VSD LV dilation – dilated Kids!
cardiomyopathy