NTR Flashcards
Waiter’s Tip
Erb Palsy- Upper Trunk c5/c6 injury
Total Claw Hand
Klumpke Palse [Lower trunk injury c8//t1]
Winged Scapula
Lesion of long thoracic nerve [c5,c6,c7]- serratus anterior
Flattened Deltoid, loss of arm abduction pass 15 degrees and loss of sensation over deltoid muscle plus loss of sensation over lateral arm
Axillary nerve injury - Surgical neck fracture
Wrist drop
Fracture of midshaft of humerus/ Radial nerve lesion
Ape hand or Pope’s Blessing
Supracondylar fracture of humerus/ Median nerve lesion
Ulnar Claw on EXTENSION
Ulnar never lesion [c8-t1]
Ape hand/ “Can’t abduct thumb”
Recurrent branch of median nerve [c5-t1]/ superficial laceration of palm
Femoral Neck Fracture, Distal Radial [Colles fracture], increased bone resorption
Due to low estrogen/ TYPE 1 postmenopausal Osteoporosis
Rx: Bisphosphonates, PTH, SERMs, Denosumab [RANK L monoclonal antibody]
Type 2 Oteoporosis
Normal Calcium, Phosphate, ALP and PTH in serum but trabecular/brittle bones
Osteoporosis
Normal Calcium [or maybe a little low if severe], Phosphate, ALP and PTH in serum but thick/easily fractured bones
OsteopeTROsis
Normal Calcium, Phosphate and PTH… but high ALP
Paget Disease
Low Calcium, Low Phosphate
High PTH and High ALP
Osteomalacia/Rickets
“brown tumors” due to fibrous replacement of bone, subperiosteal thinning
Osteitis fibrosa cystica
Always high PTH, always high ALP
If Primary hyperPTH, then high calcium and low phosphate
If Secondary hyper PTH then low Calcium and high phosphate
Soap bubble knee on x-ray w/ multinucleated giant cells
GIant cell benign tumor of epiphyseal plate
Mature bone mass with cartilaginous cap
Osteochondroma
Bone mass in metaphysis of long bones
Osteosarcoma [malignant]
t[11, 22] bone mass in diaphysis of long bones, pelvis, scapula and ribs + onion skin appearance in bone/ anaplastic small BLUE CELL malignant
Ewing Sarcoma
Glistening mass within the medullary cavity of the bone
Chondrosarcoma
Pain in weight bearing areas at the end of the day
+improves with rest
Osteoarthritis
- mechanical destruction of articular cartilage
- In Joint: Eburnation [polished ivory like appearance of bone], DIP and PIP only [no MCP]
Morning stiffness that improves with use + systemic sx: fever, fatigue, pleuritis and pericarditis]
Rhuematoid arthritis
- autoimmune destruction of synovial joints [cytokine mediated] 3 and 4 HSN
- In Joint: PANNUS formation - NO DIP involvement
ULNAR deviation of fingers
Decreased tear production + corneal damage, Decreased saliva production, Bilateral Parotid Gland enlargment
+ arthritis
Sjorgren syndrome
-autoimmune destruction of exocrine glands
Other issues: dental caries [no saliva], MALT lymphoma [if unilateral parotid gland enlargement]
How to alcohol make Gout worse?
Alcohol metabolities compete for same excretion sites in kidney as uric acid; causing lowered uric acid secretion and subsequent buildup in blood
Calcium pyrophosphate crystals w/in a joint
Pseudogout
Weakly positively birefringement [blue when parallel to light=— Gout was yellow]
Synovitis, Tenosynovitis and Dermatitis in sexually promiscuous person
Gonococcal arthritis [STD that presents as migratory arthritis with an ASYMMETRIC PATTERN] `
IgM that is an anti IgG antibody
+ anti cycle citrullinated peptide antibody [most specific to this Dx]
Rheumatoid Arthritis
B27- GROWN A “P.A.I.R.” !
P= Psoriatic arthritic [Dactilitis/ Sausage fingers- “pencil in cup” deformity on x-ray]
A= Ankylosing spondylitis ]- stiff spine due to fusion of joints + uveitis and AORTIC REGURGITATION “Bamboo spine]
I= Inflmmatory bowl dz: Crohns and UC can be linked to Ankylosing spondylitis or peripheral arthritis
R= Reiter’s Syndrome= Can’t see, can’t pee, can’t climb no tree! <– post GI infection from Shigella, Salmonella, Yersinia or Camplobacter or post CHYLYMIDIA infection
Wart like vegetations on BOTH SIDES of valve
Libman-Sacks Endocarditis linked to LUPUS!!!! [the vegetations do a LOOP around the valves/ attack both sides]
Widespread, noncasesating granulomas, elevated serum ACE levels
+ bilateral hilar adenopathy
+ Schaumann and Asteroid Bodies
+Uveitis
+HYPERcalcemia [due to increases alpha hydroxylase in kidney mediated by vita D activation in the macrophages]
Sarcoidosis
Increased ESR, Increase C-reactive protein, but normal CK [No muscle weakness!]
Polymyalgia Rheumatica linked to temporal giant cell arteririts
Widespread musculoskeletal pain in a younger woman [under 50] that’s linked to stiffness, paresthesias, poor sleep and fatigue
Fibromyalgia
“Shawl and Face” rash + Gottron papules [nodules in finger joints]
Labs: Increased CK, ANA, anti-Go, anti-SRP and anti-Mi-2
Dermatomyositis [perimysial inflammation and atrophy with CD4+ T cells] <– vs. Polymyositis [no cutaneous involvement only progressive muscle weakness characterized by endomysial inflammation with CD 8+ T cells]
AutoAbs to postsynaptic Ach receptor
“ptosis, diplopia, weakness that WORSENS with use”
*specific eye involvement!
Myasthenia Gravis
associated with THYMOMA/ Thymic hyperplasia
Reversal of symptoms with AChEsterase Inibitor administration
Myastenia Gravis
AutoAns to PRESYNPATIC Calcium chanell leading to decreased Ach release
+Muscle weakness and AUTONOMIC symptoms [like dry mouth and impotence] that IMPROVES WITH USE
links to SMALL CELL lung cancer [can ectopically release the autoantibodies to the presnaptic calcium channel]
- Lambert Eaton Syndrome [minimal to NO effect with AchEinhibitor administration]
Anti-Scl 70/ Anti DNA topoisomerase I antibody
Systemic Scleorderma: puffy and taut skin with ABSENCE OF WRINKLES [sclerosis of PULMONARY system= COD]
Anti centromere antibody
Limited Scleroderma [limited to skin involvement] + other CREST Manifestation: Calcinosis Raynoaud's Esophageal dysmotility Sclerodactyly Telangiectasia
Hyperketaosis with retention of nuclei in stratum corneum
Psoriasis [+ increased thicness of stratum corneum]
“mask of prregnancy” or OCP use
- dark cheeks
Melasma
White person who can’t tan
Autoimmune destructino of mealnocytes [Vitiligo] <- obvious in darker skinned folks.
Superficial dermal edema & lymphatic channel dilation
Urticaria/Hives
Sudden apperance of multiple seborrheic keratoses [indicating an underlying malignancy of GI or lymphoid]
Leser Trelat Sign
Collections of neutrophils within the stratum corneum
Monro microabscesses
Honey colored crusting
Impetigo [Staph aureus or Strep Pyogenes]
Crepitus from methane/CO2 production + bullae and purple skin
“Flesh eating bacteria”= Necrotizing Fascitis from anaerobic bacteria or Strep pyogenes
Generalized red rash with sloughing of the UPPER layers of the epidermis that heals completely seen in newborns/children
Staph Scaled Skin Syndrome [exototoxin destroy keratinocytes attachments in the stratum granulosum only]
White painless plaques on tongue that can NOT be scraped off
EBV mediated hairy leukoplakia [vs. oral thrush/candidiasis]
*Link to HIV pts
Firm, pink paules with dimpled {milky fluid filled] center
Mollucsum contagiosum mediated by POX virus
POX Virus= enveloped, dsDNA virus
Positive Nikolsky sign [seapration fo epidermis upon manual stroking of skin] + IF revealing Abs around epidermal cells in a reticular [net like] pattern
Pemphigus Vulgaris
Tense blisteres that contain eosinophils; affects skin but SPARES ORAL MUCOSA, Negative Nikolsky sign
Bullous Pemphigoid
IgA deposits at tips of dermal papillae associated with celiac disease
Dermatitis herpetiformis
Fever, Bulla formation, necrosis and sloughing of skin [high mortality rate like sloughing] - usually involves at least two mucosal membranes
Stevens Johnson syndrome [linked to adverse drug rxns]
What determines risk of SCC from Acitnic keratosis?
Risk ir proportional to degree of epithelial dysplasia
Painful, inflammatory lesions of subcutaneous fat usually on anterior shins
Erythema nodosum
Pruritic Purple Polygonal Planar Papules and Plaques with Wickham striae [reticular white lines] and Sawtooth infiltrate of lymphocytes at DERMAL EPIDERMAL JUNCTION
Lichen Planus [associated with Hepatitis C]
Herald Path on hair line that progresses to “Christmas tree” distribution on back
Pityriasis Rosea
Pin pearly nodules with palisading/ straight lined nuclei
Basal cell carcinoma
cup-shaped tumor with keratin debris in the center/dimple, grows rapidly but may regress spontaneously
Keratoacanthoma [a variant of Squamous cell carcinoma]
BRAF kinase mutation with positivity for S-100 tumor marker
Melanoma [risk of malignancy linked to depth of invasion]
Neutrophil chemotactia agent
LTB4
Inhibition of platelet aggregation and promotion of vasodilation
PGI2
Increased bleeding time via irreversible inhibtion of COX1 and 2 via covalent aceytlation but no effect of PT/PTT
Aspirin
Side effect: hepatic necrosis from depletion of glutathione and formation of toxic adducts in the liver
Acetaminophen
Side effect: Corrosive esophagitis and osteonecrosis of the jaw if that patient doesn’t take the drug w/ water and remain upright for at least 30 mins afterward…
AlenDRONATE [Bisphosphonate]
MOA: inhibition of osteoclast via hydroxyapatite binding in bone
Acute Gout Rx
NSAIDS [Naproxe or Indomethacin], Glucocorticoids or Colchicine [MOA: stabilizes tubulin to inhibit Microtubule polymerization and impair leukiocyte chemotaxis and degranulation— has GI side effects]
Rx for Chronic Gout and Tumor lysis syndrome [blocks the urate nephropathy]
+ increases concentrations of chemo agents: Azathioprine and 6-MP
Allopurinol [blocks Xanthine to Uric Acid conversion]
*Febuxosat also inhibits xanthine oxidase
Rx to knock out P-acnes for Rx of Acne Vulgaris
Benzoyl Peroxide
Significant herniation of cerebellar tonsils and vermis through foramen magnum with aqueductal stenosis and hydrocephalus
Px: lumbosacral myelomeningocele and paralysis below the defect
Chiari 2 [Arnold Chaiari malformation]
Headache, cerebellar signs + “cape like” bilateral loss of pain and temperature sensation in UE w/ preservation of fine touch sensation
[Most commonly affecting C8 to T1]
Syringomyelia [cystic cavity within spinal cord]
Physical support to CNS, repair, Potassium [K+] metabolism & removal of excess neurotransmitter, component of BBB, reactive gliosis in response to neural injury
+GFAP
Astrocyte [from neuroectoderm]
Decreased time constant and Increased length constant [directly]
MYELIN
Which viruses make use of RETROGRADE peripheral MOTOR nerves to attack CNS?
Polio
Rabies
Tetanus
Which viruses make use of RETROGRADE peripheral SENSORY nerves to attack CNS?
HSV
Slow unmyelinated fibers in all skin and some viscera for dull PAIN AND WARM TEMPERATURE
C fibers
Fast, myelinated fibers in all skin and some viscera for SHARP PAIN and cold temps
A delta fibers
large myelinated fibers that adapt quickly in hairless skin [palms and soles] for fine/light touch and proprioception
Meissner Corpuscles
Large myelinated fibers in deep skin layers, ligaments and jionts for VIBRATION and pressure
Pacinian corpuscles
Large myelinated fibers that adapt SLOWLY in basal skin layer and hair follicles for pressure, deep touch and proprioception
Merkel discs
Synthesized in Locus cerules
Up in anxiety and Down in Depression
NE
Synthesized in Ventral tegmentum and Substantia Nigra
Down in Parkinson and Depression
Up in Huntingtons
DOPAMINE
Synthesized in Raphe nucleus [pons, medulla and midbrain]
Up in PD
Down in anxiety and depressionq
5-HT/ SEROTONIN
Basal nucleus of Meynert
Up in PD
Down in AD and Huntingtons
Ach
Nucleus Accumbens
Down in anxiety
Down in Huntington’s
GABA
Hypothalmic nucleus that’s inhibited by LEPTIN and is destroyed, leads to ANOREXIA
Lateral Nucleus
Hypothalmic nucleus that is under SYMPATHETIC control and controls body HEATING
Posterior Nucleus
What drugs DECREASE REM Sleep?
Depressants [Alcohol, Benzo and Barbituates] <– these decrease delta wave sleep too
+ Norepi decreases REM sleep as well
Rx for bedwetting
Oral desmopression [ADH mimic] OR Imipramine
Rx for night terrors/sleepwalking [occurs during Stage N3 - delta, slow wave sleep]
Benzos
“It’s like anxiety sleep disorders”
Receives motor input from Basal ganglia and Cerebellum in order to modulate movement and send corrections to precentral gyrus/motor cortex
VL {ventral lateral} nucleus of the Thalamus
Disinhibition fo Subthalamic Nucleus via GPe leading to stimulation of GPi/SN to inhibit the thalamus and decrease motion
INDIRECT Basal Ganglia pathway [Dopamine inhibits this thereby producing movement]
Lewy Bodies
composed of alpha synuclein which are intracellular eosinophilic inclusions [PD]
Which nucleotide encodes polyglutamine leading to anticipation effect and onset of choreiform movements, aggression, depression and dementia?
CAG
Blepharospam [sustained eyelid twitch] is an example of what type of movement disorder?
Dystonia [sustained involuntary muscle contractions]
Rx for essential tremor: NOT ALCOHOL [which so many pts try} but…
Beta blockers or Primidone
Which virus is linked to Kluver Bucy syndrome and which part of the brain is affected?
HSV-1, bilateral amygdala
Spatial neglect syndrome
Lesion to right parietal-temporal cortex
Agraphia, Acalculia, Finger Agnosia and left-right disorientation
Left parietal Temporal cortex lesion [called Gerstmann Syndrome]
Reduced levels of arousal and wakefulness
Reticular Activating System lesion in the midbrain
Truncal ataxia, postural issues and dysarthria [difficulty speaking]
Cerebellar vermis lesion
Lesion to this structure cause eyes to look AWAY from the side of the lesion
Paramedian Pontine Reticular Formation lesion
Lesion to this structure causes eyes to look TOWARD the side of the lesion
Frontal eye fields lesion
Overly rapid correction fo hyponatremia
Central Pontine Myelinolysis [ “locked in syndrome”]
Damage to arcuate fasciculus
Conduction aphasia [Can’t repeat; fluent speech and intact comprehension though]
Aphasias with GREAT repetitions just other issues… [3]
- Trancortical motor: can’t produce
- Transcortical sensory: can’t understand; doesn’t make SENSE
- Mixed transcortical: all you’ve got is repetition
Therapeutic hyperventilation
To decrease CO2 and decrease itnracranial pressure in cases of acute cerebral edema [stroke, trauma] via decrease in cerebral perfusion by vasoconstriction
Lesion of PICA
Nucleus ambiguous effects: hoarseness and dysphagia & decreased gag reflex too
Lesion of AICA
Facial doop, supplies facial nucleus specifically
Injury to basilar artery
Locked in Syndrome
Berry Aneurysms associated with which conditions [3]
ADPKD, Ehlers-Danlos Syndrome & Marfan’s
Previous stroke patient with intitial sensation fo numbness and tingling followed in weeks to months by allodynia [ordinarily painless stimuli cause pain} and abnormal sense of touch
Central post stroke pain syndrome linked to unresolved thalamic lesion
Complication of tonsillar herniation
Cardio pulmonary arrest [cerebellar tonsils thru foramen magnum that can compress brainstem]
Complication of subfalcine herniation
Compression of ACA leading to infarction
[cingulate gyrus thru falx cerebri
Complication of uncal herniation
Issues with structures in the tentorium cerebelli [CN 3, PCA and paramedian artery]
- temporal lobe/uncus goes beneath the tentorium cerebelli
Subdermal hematoma [causing midline shift] , retinal hemorrhage & cerebral edema
Shaken Baby Syndrome/Child abuse
Risks associated with subarachnoid hemorrhage
Vasospasm [due to blood breakdown- must be treated with nimodipine]… and also risk of re-bleed [visible on CT]
Bright area on noncontrast CT post stroke
Hemorrhagic stroke- DO NOT give tPA!
Bright on MRI
Ischemic stroke
What’s in the cavernous sinus?
ICA, CN 3, 4, V1 and V2, 6
*6 most likely injured
From cavernous sinus, where does the venous blood go?
If Sup. petrosal sinus–> Transverse Sinus –> Sigmoid Sinus –> IJV
If Inf. petrosal sinus –> IJV [direct!]
Which minerals are HIGHER in the CSF in comparison to blood?
Chloride and Magnesium [everything else is lower in CSF- in NORMAL/ non-ill situations]
Which mineral is EQUAL concentration in CSF and blood?
Sodium
Urinary incontinence, ataxia and cognitive dysfunction “Wet, Wobbly and Wacky”
Normal pressure hydrocephalus [ expansion of ventricles that distorts the fibers of the corona radiata ; issue is with the arachnoid villi, low absorption]
Normal CSF pressure but dilated ventricles
Hydrocephalus ex vacuo [relative increase in CSF/ventricle size due to atrophy of rest of the brain
“Floppy baby”- no honey though. Inherited degeneration of ventral horn/LMN
Werdnig-Hoffman disease leading to flaccid paralysis
-Auto Recessive inheritance
Combined UMN and LMN deficits with no sensory, cognitive or oculomotor deficitis - what’s the mutation in familial cases?
Superoxide dismutase 1/ ALS
Rx for ALS
Rilouzole [decreases presynpatic glutamate release]
Complete occlusion of Anterior spinal artery, what areas are affected? what areas are spared?
Affected: Corticospinal tract & Spinothalamic tract
Spared: Dorsal columns and Lissauer tract
Impaired sensation and proprioception and progressive sensory ataxia from degeneration/demyelination of dorsal columns and roots
Tabes dorsalis [Tertiary syphilis]; Charcot joints, shooting pain, ARGYLL ROBERTSON PUPILS, — absent DTRs and positive Romberg sign
demyelination fo dorsal columns, lateral corticospinal tracts and spinocerebellar tracts
Subacute combined degeneration [Vit B12 or Vit E deficiency]
Virus causing destruction of cells in anterior horn of spinal cord leading to LMN sign PLUS signs of infection [malaise, headache, fever, nausea]
POLIOmyelitis [CSF shows increased WBCs and slight increase in protein but no change in glucose bc it’s viral] — polio replicates in oropharynx and small intestine
Staggering gait, frequent falling, nystagmus, pes cavus/caved in chest, hypertrophic cardiomyopathy, kyphoscoliosis in childhood
Friedreich ataxia [GAA tri nuc repeat] on chromosome 9
; encodes frataxin [iron binding protein] that leads to impairment in mitochondrial functioning
2 ipsilateral sx and 1 contralateral sx [linked to spinal lesions]
Brown-Sequard Syndrome [hemisection of spinal cord]
- Ispilateral: UMN signs below lesion, LMN at level of lesion
- Contralateral: Pain and temp loss
Reflex: s3, s4
Anal wink
Reflex: C7
Triceps reflex/ Radial nerve
Reflex: L3/4
Patella/ Quadriceps/ Femoral Nerve
Reflex: S1/2
Achilles/ Gastrocnomes m/ Tibial nerve
CN that lie in the midline of the brain stem
CN 3, 6 and 12
[Motor= medial]
Paralysis of conjugate vertical gaze
Lesion in superior colliculi/ Parinaud Syndrome [Ex: a pinealoma]
Jaw Jerk reflex
V3- Masseter muscle control both sensory and motor component of the reflex
Cranial exit: Superior Orbital Fissure
CN 3, 4, V1, 6 + opthalmic vein and sympathetics
Cranial exit: Foramen Rotundum
V2
Cranial exit: Foramen Ovale
V3
Cranial Exit: Internal Auditory Meatus
CN 7 and 8
Cranial Exit: Jugular Foramen
CN 9, 10, 11
Opthalmoplegia and decreased corneal and maxillary sensation with NORMAL VISUAL ACUITY
Cavernous sinus syndrome
Jaw deviates toward side of lesion
CN 5 motor lesion [due to unopposed pterygoid muscle]
The thin and rigid cochlea located at the BASE picks up this type of sound
High frequency sound [high frequency is also what’s loss first!]
Contralateral paralysis fo LOWER FACE, forehead spared
UMN of facial nerve lesion
Ipsilateral paralysis of upper AND lower face
LMN of facial nerve lesion
Child with white pupil and trouble with visual tracking +/- tumors in eyes
Retinoblastoma [remember link to osteosarcoma]
Uveitis [inflammation of uvea/iris with sterile pus and redness] often linked to:
Systemic inflammatory disorders:
-sarcoid, rheumatoid arthritis, juvenile arthritis, TB, HLA-B27 issues, etc.
Retinal edema and necrosis leading to scar
Retinitis
[usually VIRAL cause- CMV [if AIDS patients], HSV or HZV]
Acute, painless monocular vision loss with cherry red spot at the fovea
Central retinal artery occlusion
*can link to Temporal arteritis
Retinal hemorrhage and edema
Retinal vein occlusion
Pt with DM with retinal damage due to chronic hyperglycemia
If proliferative; means chronic hypoxia lead to new blood vessel formation with resultant TRACTION on retina- must treat with anti-VEGF injections
Very painful, sudden vision loss, halos around lights, rock hard eye, frontal headaches
Acute closure glaucoma - so NOT give epinephrine because of it’s mydriatic effect
Painless, bilateral, opacification of lens paired with decrease in visual acuity
Cataracts
Causes:
-being old, smoking, alcohol, prolonged steroid use, galactosemia, GLACTOKINASE DEFICIENCY, DM [sorbitol accumulation], trauma, infection
Enlarged blind spot, elevated optic disc with blurred margins seen on fundoscopic exam
Papilledema
Eye looks down and out plus ptosis, pupillary dilation and loss of accommodation
CN 3 damage
Eye moves upward + head tilt toward side of the lesion [will try to compensate by tilting head in opposite direction]- problems going down the stairs
CN 4 damage
To test Inferior Oblique m
Have pt look up
Decreased bilateral pupillary constriction when light is shone in affected eye relative to unaffected eye
Marcus Gunn Pupil
Dx via “Swinging flashlight test”
Break between neurosensory layer [photoreceptor layer] and outermost pigmented epithelium [normally shield excess light]- most common in patients with high myopia and are often preceded by posterior vitreous detachment [flashes/floaters] with eventual monocular loss of vision [“curtain drawn down”
Retinal detachment
Lesion to the right temporal [more lateral radiations] of the MCA
Left upper quadrant anopia
Lesion to the right parietal [more medial radiations] of the MCA
Left lower quadrant anopia
PCA infarct [on right]
Left hemianopia with macular sparing
With Internuclear Opthalmoplegia, what part of motor vision is NORMAL?
Convergence
Ascending [motor] Paralysis, Loss of DTRs, Autonomic dysfunction, increased protein in CSF but normal WBC
Guillain-Barre
- autoimmune disease linked to GI or respiratory infection with Camplobacter Jejuni or CMV
- MOA= molecular mimicry/ type 4 HSN
What TWO anterior pituitary hormones are stimulated by TRH release from the hypothalamus?
TSH and Prolactin
HTN, Hypokalemia, Low DHT leading to ambigious genitalia in XY person and lack of secondary sexual development in XX person
17 alpha hydroylase deficiency
Low Cortisol, Low Androgen, High Aldosterone
HYPOtension, HYPERkalemia, Increased Renin, Increased 17 hydroxy progesterone
21 hydroxylase deficiency
Presents as salt wasting in infancy or precocious puberty in childhood [virilization in XX/girls]
Hypertension due to high 11 deoxycorticosterone, Virilization in XX person only
11 Beta Hydroxylase deficiency
Signaling pathway: cAMP [7]
“FLAT ChAMP”
FSH, LH, ACTH, TSH, CRH, hCG, ADH [V2 receptor/ the one linked to antidiurectic effect!]
- all of the basophilic hormones of the ant. pituitary
+ CRH, hCG and ADH
Signaling pathway: cGMP [2]
Vasodilators!
-ANP, NO [and EDGF]
Signaling pathway: IP3 [7]
“GOAT HAG”
GnRH, Oxytocin, ADH [V1 receptor], TRH
Histamine [H1], Ang II, Gastrin
Signaling pathway: Steroid receptor/ Nuclear
VETTT CAMP
Vit D, Estrogen, Testosterone, T3/T4
Cortisol, Aldosterone, Progesterone
*Adrenal gland hormons [aldosterone, cortisol, androgens] + thyroid + Vit D
Signaling pathway: Intrinsic Tyrosine Kinase- MAP Kinase
Insulin + Growth Factors!
IGF-1, FGF, PDGF, EGF
Signaling pathway: Receptor-assocaited tyrosine kinase- JAK/STAT pathway
Acidophiles: GH & Prolactin
+
Cytokines: IL2, IL 6, IL 8, IFN
Autosomal dominant unresponsiveness of kidney to PTH. Hypocalcemia, shortened 4th/5th digits, short stature
Pseudohypoparathyroidism/ Albright Osteodystrophy
Greater than 50% increase in urine osmolarity after water restriction test
Central Diabetes Insipidus
Large tongue, deep voice, coarse facial features, impaired glucose tolerance/insulin resistance
Acromegaly [cardiac failure= COD, Rx/ with octreotide]
Aldose reductase
Glucose to Sorbitol
Sorbitol dehydrogenase
Sorbitol to fructose
Cause: Excess fat breakdown and increase in ketogenesis from increase free fatty acids esp after stress/infection [due to increased insulin requirements- but person is diabetes/ type 1]
DKA [the ketogenesis from the increased fatty acids are turned into ketone bodies [beta hydroxybutyrate and acetoacetate]
Kussmaul respirations, GI sx, psychosis/delirium, dehydration, fruity breath odor
DKA
Labs: Hyperglycemia, increases hydrogen ions, decreased bicarbonate [anion gap metabolic acidosis], hyperkalemia [but depleted intracellular potassium due to transcellular shift from decreased insulin]
DKA
Rx: IV fluids, IV insulin and potassium
Islet leukocytic infiltrate
Type 1 DM
Islet amyloid polypeptide deposits
Type 2 DM
Tumors of Parathyroid, Pituitary, Pancreas + usually Px with kidney stones and stomach ulcers
MEN 1
Medullary thyroid cancer, pheochromocytomas and parathyroid hyperplasia
MEN 2 A [ret linked]
Meudllary thyroid cancer, pheochromocytomas and oral/intestinal ganglioneuromatosis/ mucosal neuromas + pt usually has marfanois habitus
MEN 2 B [ret linked]
Part of Gram negative bacteria that induces IL1 and TNF/ antigen
Lipid A of outer membrane/ O polysaccharide is the official antigen
Part of Gram positive bacteria that induces IL1 and TNF/antigen
Lipoteichoic acid of the cell wall/cell membrane
D glutamate capsule
Bacillus anthracis [the rest of the capsules are polysaccharide]
Contain sterols and have no cell wall
Mycoplasma
Contain mycolic acid and have high LIPID content
Mycobacteria
Bugs that do not stain well with gram stain
"These Microbes May Lack Real Color" Treponema [too thin to see] Mycobacteria [acid fast stain w carbolfuschin- detects lipid] Mycoplasma [no cell wall] Legionella [intracellular] Rickettsia [intracellular] Chylamydia [intracellular]
PAS stain
glycogen- T. Whipple Disease
Giemsa Stain
Ugh. “Certain Bugs Really Try My Patience”
Chylamidia Borrelia Rickettsiae -- Plasmodium
Carbol fucsin stain/ ACID FAST- picks up lipid
Nocardia
Mycobacteria
India Ink
Cryptococcus neoformans
Red stain on Mucicarmine stain
Cryptococcus neoformans [the red= thick polysaccharide capsule]
Silver Stain
H.Pylori Loves Funky Silver
H.Pylori
Legionella
Fungi
Thayer Martin Agar
VPN!!! Vancomycin, Polymyxin, Nystatin
Inhibits everything but Niesseria!
Vanc blocks positives
Polymyxin blocks all the negatives except Niersseria, ofcourse.
Tellurite Agar
Cornybac Diptheriae
Which bacteria has an agar that requires CHOLESTEROL in order for growth?
Mycoplasma pneumoniae {Eaton Agar}
Charcoal yeast agar with IRON and CYSTEINE
Legionella [remember… legion of soldiers by the charcoal fire with their iron hats. They aren’t sissies!]
Obligate Aerobes
“Nagging Pests MusBreathe”
Nocardia
Pseudomonas
Mycobacteria
Obligate Anaerobes
“Can’t Breathe Air”- y? they lack catalase/superoxide dismutase and are therefore susceptible to oxidative damage so they just avoid O2 completely!
Clostridium
Bacteriodes
Actinomyces
… AminO2glycosides are ineffective against these bc AminO2glycosides require oxygen to enter into bacterial cell
Antiphagocytic Capsules/Encapsulated bacteria
SHiNE SKiS
Salmonella
H. Influenzae [anti cap vaccine]
Neisseria [anti cap vaccine]
E.Coli
Strep Pneumo [anti cap vaccine]
Klebsiella Pneumo
Step Agalactie [GBS]
NO SPLEEN!?! uh-oh. You’re popped with these.
Catalase Positive Bugs
“CP SALES”
Candida
Pseudomonas
Staph Aureus Aspergillus Listeria E.Coli Serratia
Urease positive Bugs
“PS CHUNKS”
Proteus
Staph Epidermidis
Cryptococcus H.Pylori Ureaplasma Nocardia Klebsiella Staph Sapro
Yellow Sulfar Granules
Actinomyces Israelii
Gold/Yellow Pigment
Staph Aureus
Greenish/Blueish Pigment
Pseudomonas
Virulence: Protein A- Binds Fc region of IgG to prevent opsonization and phagocytosis
Staph Aureus
Virulence: IgA Protease- cleaves IgA antibody in order to colonize respiratory mucosa
“SHiN”
Step Pneumo
H. Influenza
Neisseria
Virulence: M Protein- to prevent phagocytosis
Group A Strep [Strep pyogenes]
- leads to molecular mimicry and Rheumatic Fever
Exotoxin MOA: Inactivate Elongation Factor [EF-2] via ADP ribosylation to inhibit protein synthesis
DIptheria Toxin [Coryne Diphtheriae] & Exotoxin A [Psuedomonas]
Exotoxin MOA: Inactivate 60 S host ribosome by removing adenine from rRNA to inhibit protein synthesis
Shiga toxin [Shigella] and Shiga-like toxin [EHEC]
Exotoxin MOA: Overactivate adenylate cyclase and wildly increase cAMP leading to secretion of Cl- in gut with water following
ETEC- Heat labile toxin
Bacillus Anthracis
Cholera Toxin
Exotoxin MOA: Overactivate guanylate cyclase and wildly increase cGMP leading to decreased reabsorption of NaCl/Water= increased fluid secretion
ETEC-Heat stable toxin
Exotoxin MOA: Overactivates adenylate cyclase by disabling Gi, impairing phagocytosis to permit survival of microbe
Pertussis toxin
Exotoxin MOA: Has proteases that cleave SNARE protein required for NT release
Tetanospasmin [impairs GABA and glycine]
Botulinum toxin [impairs Ach]
AB Toxins
Diptheria, Exotoxin A, Shiga + Shiga/Like, Heat Labile ETEC, Cholera toxin and Pertussis toxin
Exotoxin MOA: has a Phospholipase [called lecithinase] that degrades tissue and cell membranes
Alpha toxin [Clostridium perfringens]
Exotoxin MOA: has a protein that degrades cell membrane
Streptolysin O [Strep pyogenes/ Group A Strep]
Exotoxin MOA: Bring MHC 2 and TCR in proximity to outside of antigen binding site to cause overwhelming release of IFN gamma and IL2 leading to shock
Toxic Shock Syndrome Toxin [Staph Aureus]
Exotoxin A [encoded by lysogenic phage]- [Strep pyogenes]
Bacterial toxins that are encoded in lysogenic phage
ABCDE
shigA like toxin [EHEC] Botulinum Toxin Cholera Toxin Diptheria Toxin Erythrogenic toxin [the Exotoxin A of Strep pyogenes]
Ability to take up naked DNA
Transformation
SHiN
Strep Pneumo
H. Flu
Neisseria
Helps bacteria pass Ab resistance genes
Conjugation
Fertility Factor = plasmid transfer only
High frequency Recombination cell= plasmid & chromosomal transfer
Segment of DNA called a transposon that can be excised and reintegrated from one location to another
Transposition
Can synthesize dextrans from glucose
Strep Viridans [alpha hemolytic, optochin resistant, bile INsoluble Gram positive]
Red sandpaper rash and bright red/ “strawberry” tongue
Scarlet Fever
-Strep pyogenes
Colonizes the vagina and causes pneumo, meningitis and sepsis in babies- Should prophalactically give mom penicillin
CAMP FACTOR= expands hemolytic area of strep
Test will be positive for Hippurate
Strep Agalactiae [GBS]
Beta Hemolytic Bacteria
GAS and GBS
+ Staph Aureus
+ Listeria
MOA: actin rockets/ tumbiling motility allows them to escape capture by antibody- must kill using cell-mediated death
Listeria
Forms fibrin clot around itself promoting abscess formation
Staph {aureus}
Spore forming bacteria
Clostridium
Bacilis
Coxiella
*at end of stationary phase when nutrients are limited; highly resitant to heat and chemicaly [due to dipicolinic acid which allows the bacteria to pump all of the water out of cells]; must autoclave to kill spores [think surgical equipment]
Most specific test for TB
Interferon Gamma release assay [fewer false positives]
These bacteria have CORD FACTOR which inhibits macrophage maturation and induces release of TNF-alpha
Mycobacteria
[they have sulfatides/surface glycoproteins, too, which inhibit phagolysosomal fusion]
Must give this along with Rx Gonorrhoeae in order to guard against possible Chlamydia co-infection
Azithromycin or Doxycycline
The vaccine for this bug contains tye B capsular polysacc [polyribosylribitol phosphate-PRP] conjugated to diptheria toxoid
H. Influ
E.Coli virulence: Fimbria
UTI
E.Coli virulence: K. Capsule
Pneumonia
Neonatal Meningitis [Px: fever, baby won’t eat]
E.Coli virulence: LPS Endotoxin
Septic Shock
Which of the E.Coli’s does NOT ferment sorbitol?
EHEC
Malignant otitis externa in a Pt with DM
Pseudomonas
Rose spots on belly + fever + this bug will be in the gallbladder of known carriers
Typhoid Fever
-Salmonella [Gram negative, non lactose fermenting, oxidase negative rod with flagella]
- Hydrogen sulfide will be produced
RLQ pain that mimicks Appendicitis, usually proceeded by a sore throat and pt. reports some ingestion of pet feces contaminated milk or pork
Yersenia
[Gram negative rod- lactose and oxidase negative]
What does E. Coli produce that allows it to break down lactose into glucose and galactose?
Beta galactosidase
The gram negative outer membrane layer inhibits entry of which antibiotics?
Penicillin G and Vancomycin
[some gram negatives are still susceptible to Ampicillin and amoxicillin though]
Ferments glucose AND maltose [vs it’s partner who just ferments glucose]
Neisseria Meningitidis
This bug is linked to air conditioning filters being dirty and labs show hyponatremia.
Legionella
Chronic psuedomonas caused pneumonia in cystic fibrosis patients is associated with…
BIOFILM
Which of the E.Coli’s doesn’t produce a toxin?
EPEC-
causes pediatric diarrhea via adherence via pedastel; just flattens villi thereby decreasing reabsorption and causing increased secretion of fluids
Anemia, Thrombocytopenia and acute renal failure
Hemolytic uremic syndrome [link to schistocytes]
Spirochetes
“BLT”
Borrelia
Leptospira
Treponema
Flu like symptoms plus jaundice, photophoia, red conjuctiva without exudate + Hx of contact with water in which an animal may have urinated in
Leptospira
Facial nerve palsy, Arthritis, Third degree heart block and Erythema migrans
Borrelia/ Lyme Dz
Non specific test for Treponema
VDRL/RPR
Specific test for Treponema
FTA-ABS
Saber shins, saddle nose, CN 8 deafness and Hutchinson teeth
Congenital Syphilis
VDRL
detects nonspecific antibody that reacts with cardiolipin [inner mito membrane/ NRG metabolism]
- False positive: VDRL- Viruses, Drugs, Rheumatic Fever, Lupus/Leprosy
Cat scratch
Bartonella
Cat/Dog BITE
Pasturella
Treatment for all Rickettsial Diseases
Doxycycline
Rash starts at wrists/ankles and spreads to trunk, palms, soles
Rocky Mountain Spotted Fever/ Rickettsia Rickettsii
[intracellular, can’t synthesize ATP]
Rash starts at the trunk and spreads outward but spares palms and soles
Rickettsia TYPHUS
Neonate with staccato cough and conjunctivitis
Chlamydia trachomatis types D-K
Pt comes in for insidious onset of headache, nonproductive cough and diffuse interstitial infiltrate. X-ray looks much worse than pt. High titer of cold agglutinins [IgM]
Mycoplasma Pneumoniae [walking Pneumo]- treat with azithromycin
Methylation of Histone
Mostly makes DNA Mute/ Inactive
Acetylation of Histone
Makes DNA active
Temporary base used in the synthesis of Pyrimidines
Orotic acid
Two metabolic pathways that use Carbamoyl Phosphate
De novo pyrimidine synthesis pathway
Urea Cycle
T cells low, but B cells normal + increased renal excretion of purines
PNP [Purine Nucleoside Phosphorylase] deficiency- less severe than ADA deficiency
Increase renal excretion of uric acid
Probenecid/Sulfinpyrazone
Excess of ATP and dATP leading to inhibition of DNA synthesis and decreases lymphocyte count
Adenosine deaminase deficiecy [SCIDS]
Increased Adenosime and dAdenosine leading to decreased RIbonuc Reductase & decreased T cells, B Cell, NK Cells +Underdeveloped Thymus
Excess uric acid production and de novo purin synthesis bc Amidotransferase no longer being inhibited [due to absent HGPRT enzyme]
Px: intellectual disability, self-mutilation, aggression, hyperuricemia, gout, dystonia
Rx: Allopurinol or Febuxostat
Lesch Nyhan Syndrome
Degradation of RNA primer via 5’ to 3’ exonuclease and replacement with DNA
DNA Poly I
3’ to 5’ Proofreading activity plus adds the nucleotides
DNA Poly III
RNA dependent DNA poly that adds DNA to 3’ end in order to avoid loss of genetic material with every duplication
Telomerase [increased levels in cancer cells]
Which DNA Repair Mechanism occurs in the G2 phase?
Mismatch repair [linked to HNPCC]
UV damage causes thymine dimers that are repaired by this
Nucleotide Excision Repair [G1]- Xeroderma Pigmentosum= deficiency
How do toxic mushrooms/ Amanita Phalloides/ alpha amanitin cause liver failure/severe hepatotocity?
inhibition of RNA polymerase II [mRNA]
This RNA Poly makes the type of RNA that’s made in the nucleolous
RNA Poly 1 [rRNA]
Protein factor sigma
Initiation of prok transcription
Protein factor Rho
Termination of prok transciption
“P bodies”
Police the mRNA- contain exonucleases, decapping enzymes and micro RNAs- also they’re able to store unused mRNA for future translation
Order of the “process” of taking initial transcript hnRNA to mRNA [occurs in the nucleus
Capping of 5’ end [7 meth cap] end
Splicing out of introns
Anti Smith antibodies
Antibodies to spliceosomal snRNPs [highly specific for SLE]
T Arm of tRNA molecule
Thymine, Pseudouridine and Cytosine
*Necessary for ribosome binding
D Arm of tRNA molecule
Dihydrouracil necessary for tRNA recognition by correct aminoacyl tRNA synthetase
How many high NRG bonds are used/ protein synthesis cycle?
FOUR
ATP- tRNA activation
GTP- initiation of protein synthesis/ translocation
Inhibition of protein synthesis via cutting 28 S rRNA during elongation phase
Shiga Toxin
Inhibition of Peptidyl transferase leading to inhibition of protein chain elongation
Chloramphenicol [antibiotic]
Inhibition of protein initiation complex [30S]
Aminoglycosides [gentamicin, neomycin, tobramysin]
Inhibition of translocation of ribsome during the elongation phase [50s]
Macrolides [- thromycin]
Clindamycin
Normal inhibition of G1 to S progression [and mutations in these genes result in unrestrained cell division]
p53
hypophosphorylated Rb
Permanent cells: Remain in G0 phase; regenerate from stem cells only
Neurons
Skeletal Muscle
Cardiac Muscle
RBCs
Stable cells: Enter G1 from G0 only when stimulate
Hepatocytes
Lymphocytes
Nephrons [?]
Labile cells: Never go to G0; divide rapidly with a short G1 phase. These cells are most affected by chemotherapy [although of the WBCs, lymphocytes are first affected…]
Bone Marrow cells Gut epithelial cells Skin cells Hair follicles Germ cells
Free ribosomes
Unattached to any membrane; site of synthesis of cytosolic and organellar proteins
Specifically:
cytosolic proteins and mitochondrial proteins are translated by free ribosomes
Steroid hormone synthesis, detoxification and lack surface ribosomes
+ sequesters and releases Ca2+
SER
Defect in phosphotransferase enzyme leading to inability to add mannose phosphate to proteins for trafficking to lysosomes
I-Cell disease= proteins are secreted extracellularly rather than delivered to lysosomes
Px: Coarse facial features, clouded corneas, joint issues, high plasma levels of lysosomal enzymes
Signal Recognition Particle [SRP]
Protein in the cytosol that traffics proteins from the ribosome to the RER
If absent –> proteins accumulate in the cytosol
Trafficking proteins: COP 1
Retrograde golgi transport OR Golgi –> ER
Trafficking proteins: COP 2
Anterograde golgi transport OR ER –> Golgi
Membrane enclosed organelle, contains catalse, catabolism of very long chain fatty acids, branched chain fatty acids and amino acids
Peroxisome
Drugs that target microtubules
“Microtubules Get Constructured Very Poorly”
Mebendazole [anti helminithic] Griseofulvin [anti-fungal] Colchicine [anti-gout] Vincristine/Vinblastine [anti-cancer] Paclitaxel [anti-cancer]
Intermediate filament: Vimentin
Connective TIssue
Collagen Synthesis: Issue with hydroxylation
Vit C deficiency –> scurvy
Collagen Synthesis: Issue with Glycosylation leading to no triple helix formation
Osteogenesis imperfecta [defect of Collagen Type 1]
Collagen Synthesis: Issue with Cross linking
Ehlers Danlos Syndrome
Before procollagen undergoes proteolytic processing and cross linking; but after syntehsis, hydroxylation and glycosylation… what must happen?
Procollagen must be exocytosed into extracellular space [pushed out of fibroblast]
Ehlers Danlos Syndrome is an example of what type of Genetic phenomenon?
Locus heterogeneity
Connective tissue dz caused by impaired COPPER absorption and transport leading to decreased activitiy of lysyl oxidase
Px: BRITTLE, KINKY HAIR- growth retardation, and hypotonia
Menkes Dz
This is a glycoprotein that forms a sheath around elastin; if there’s a defect in this glycoprotein you get Marfan’s
Fibrillin [type of elastin]
This blotting procedure is useful for studying mRNA levels which are reflective of gene expression
Northern Blot
This blotting technique is use to identify DNA-binding proteins [Ex: transcription factors] using labeled oligonucleotide probes
Southwestern Blot
Able to detect SNPs and copy number variations [useful for genotyping, genetic testing and forensics]
- scanner detects relative amounts of complementary binding [DNA OR RNA probes can be used]
Microarrays
This system can manipulate genes are specific developmental points
Cre-lox system
Synthesis of a dsDNA that separates and promotes degradation of target mRNA thereby “knocking down”/interfering with gene expression
RNA interference
Karyotyping stains chromosomes in what phase of mitosis?
Metaphase
For cloning, restriction endonucleases cut the sample DNA where?
Palindrome sequence
Benefit of using cytoplasmic mRNA instead of genomic/chromosomal DNA for cloning?
cDNA/cytoplasmic mRNA have entire reading frame in tact- vs. genomic which has some introns too. So if you want to study introns, should use the chromosomal DNA
One gene contributes to multiple phenotypic effects
Pleiotropy
Ex: PKU [light skin, retardation, musty body odor]
If a patient inherits a mutation in a tumor suppressor gene, the complementary allele must be deleted before cancer develops
Loss of heterozygosity
Ex: Retinoblastoma
A mutation of a transcription factor in it’s allosteric site leading to a nonfunctioning mutant that prevents the normal gene product from functioning
Dominant negative mutation effect
Tendency for certain alleles at 2 linked loci to occur together more often than expected by chance; based on POPULATION- not just within your family!
Linkage disequilibrium
Mitotic errors after fertilization leading to presence of genetically distinct cell lines in the same individual
Mosaicism
Mutations at different loci producing a similar phenotype
Locus heterogenity
Different mutations in the same locus produce the same phenotype
[so the mutation is what’s different… not the locus.]
Allelic heterogeneity
Presence of both normal and mutated mtDNA resulting in variable expression in mitochondrial inherited disease
Heteroplasmy
Let’s say a person expresses a phenotype for a RECESSIVE disorder, but only one parent is a carrier…
Uniparental disomy
- offspring receives2 copies of chromosome from 1 parent and no copies from the other
If they receive the same chromosome twice= meiosis 2 error
If they receive one of each, just from the same parent= meiosis 1 error
Hardy Weinberg assumptions:
- No mutation
- No natural selection
- Random mating
- No net migration
Occurs during gametogenesis; at a loci where there’s already on allele that is inactivated via methylation and then the solo activate allele gets delete leading to disease
Imprinting
If MATERNAL is deleted= Angelman Syndrome
If PATERNAL is deleted= Prader Willi Syndrome
Hyperphagia, Obesity, Intellectual disability, hypogonadism and hypotonia
Px: “parent must lock cabinets bc the kid just keeps eating!”
Prader Willi Syndrome
Inappropriate laughter, seizures, ataxia, severe intellectual disability
Angelman Syndrome
You share 1/2 of your genes with your siblings; Therefore how many genes are shared with 1st cousins? 2nd cousins?
Times 1/4
1st cousins= 1/8
2nd cousins= 1/32
Fathers transmit to ALL daughters, but no sons
Mothers transmit to 1/2 of daughters or sons
X-linked dominant trait
Examples:
- Hypophosphatemic Rickets
- Fragile X
- Rett Syndrome
- Charcot Marie Tooth Dz
Muscle biopsy shows “ragged red fibers”; pt px with myopathy, lactic acidosis and CNS Dz secondary to failure in oxidative phosphorylation
Mitochondrial myopathies
Ps: Telangiectasia, recurrent epistaxis, skin discolorations, AV malformations, GI bleeding, hematuria
Hereditary hemorrhagic telangiectasia
-Auto dominant
Increase MCHC. Rx with splenectomy.
Hereditary spherocytosis [due to defect in spectrin or ankyrin] leading to hemolytic anemia
I’m a Marfan’s patient, which of my valve will be “floppy”?
Mitral Valve
100% penetrance always BUT variable expression. Px: Cafe au lait spot, cutaneous neurofibromas. Auto Dominant, Chromosome 17
Neurofibromatosis Type 1
Px: Bilateral acoustin schwannomas, juvenile cataracts, meningiomas and epndymomas [Chromesome 22]
Neurofibromatosis Type 2
What deletion is commonly linked to CF?
Phe {phenelyalanine} 508; misfolding leading to retention of protein in RER [channel never makes it to membrane]- defect in CFTR gene on chromosome 7
CFTR encodes: ATP gated Cl- channel that secretes Cl- in lungs and GI tract and reabsorbs Cl- in sweat glands
Clearance of leukocytic debris associated with Cystic fibrosis
Rx: Dornase Alfa [DNAse]
X-linked FRAMESHIFT mutation leading to truncated dystrophin proteinand accelerated muscle breakdown
Onset before age 5 !
Duchenne muscular dystrophy
“weakness begins in pelvic girdle and progresses superiorly” + pseudohypertrophy of calf muscles due to fibroFATTY replacement
+ Gower maneuver [use of UE to help them stand]
COD for kid with Duchenne Muscular dystrophy
Dilated cardiomyopathy
This acts as an anchor for muscle fibers; connection actin to the transmembrane proteins alpha and beta dystroglycan [ECM]
Dystrophin
[loss of dystrophin= myonecrosis] + increases CPK and increase aldolase as seen on Western blot
X linked POINT mutation- w/ later onset of myonecrosis that’s not too too severe
Becker muscular dystrophy
Myotonia, muscle wasting, frontal balding, cataracts, testicular atrophy and arrhythmia caused by a trinucleotide repeat
CTG trinuc repeat in the DMPK gene –> Myotonic Type 1
Px: post pubertal macroorchidism, long face, large jaw, LARGE EVERTED EARS, autism, MITRAL VALVE PROLAPSE
CGG trinucleotide repeat, X-linked
Fragile X Syndrome
Top three causes of Down Syndrome
- Nondisjunction during maternal meiosis 1
- Robertsonian translocation
- Mosaicism [post fertilization mitotic error]
Increase nuchal translucency, hypoplastic nasal bone, increased serum Beta hCG, decreased serum PAPP-A
First trimester labs for Downs Syndrome
*Downs is the only Autosomal trisomy with INCREASED Beta hCG
Decreased AFP and decreased estriol, increased serum Beta hCG, increased inhibin A
Second trimester labs for Downs Syndrome
*Downs is the only Autosomal trisomy with INCREASED Beta hCG
Px: retardation, small jaw, rocker bottom feet, CLENCHED HANDS, low set ears, congenital heart disease
Edwards Syndrome [18]
First trimester labs- EVERYTHING is decreased: PAPP-A, Beta hCG, AFP, estriol, Inhibin A [last one could be normal]
Px: microcephaly, cleft lip/palate, holoprosencephaly, polydactyly, congenital heart disease
Patau Syndrome [13]- least common
First trimester labs- The only INCREASE is in nuchal translucency. [everything else decreases]
“Long arms fuse; short arms lose”
Robertsonian Translocation
Px: microcephaly, retardation, HIGH PITCHED CRY/ “MEOWING”, epicanthal folds, cardiac issues [VSD]
Cri-du-chat Syndrome
MOA: Microdeletion of short arm of chromosome 5
“William” has an “elf like” face, he’s retarded, but has well developed verbal skills and is extremely friendly with strangers despite cardiovascular issues and HYPERcalcemia [he’s sensitive to Vit D]. He’s been like this since he was about 7 yo.
microdeletion of LONG ARM of chromosome 7
Williams Syndrome
Cleft palate, Abnormal face, thymic aplasia, cardiac defects, HYPOcalcemia
microdeletion at chromsome 22q11
Px: DiGeorge Syndrome or Velocardiofacial Syndrome
“CATCH 22”
Prevents squamous metaplasia. Used to Rx Measles and AML [M3]
Vit A
