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MCB I > Diseases > Flashcards

Diseases Flashcards

1
Q

Hemolytic anemia, liver diz, alchoholic, high reticulocytes

A

↑ cholesterol in RBCs

Spur cell anemia / acanthocytosis

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2
Q

Sperical RBCs and lose membrance iwth each diapediesis

A

Mut in spectrin / ankyrin or protein 4.1

Hereditary spherocytosis

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3
Q

Rigid elbow neck ankle

Sudden heart failure

A

Mut lamin a/c or emerin

Emery-dreifus

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4
Q

CHF

A

Mut lamin a/c

Dilated cardiomyopathy

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5
Q

Buff everywhere except neck and face

A

Mut lamin a/c

Lipdystrophy

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6
Q

Bleb formation
Prominent eyes
Arteriosclerosis

A

Mut LAMIN A

Hutchinson gilford progeria

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7
Q

Rapid onset

Feeding difficulty

A

Mut in SMn in GEMS

spinal muscle atrophy

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8
Q

Recurrent pneumonia

Rhonchi rhales

A

P folding dfct. Deletion in F508 and mut CFTR

CF

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9
Q

High cholesterol

A

P folding defect, mut LDL-R

Familial hypercholesterolemia

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10
Q

Coarse facial features
Die early from CHF
Big spleen and liver

A

Dfct N- acetylglucosamine phosphotransferase = no M6P tag

I-Cell

EMPTY LYSOSOME

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11
Q

Botulism and Tetanus cleave _______

A

Synaptobrevin

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12
Q 
Autosomal
Hirsutim
Die before 10
Skeletal deformities
Hepato and spleno megly
Corneal clouding
A

↓ alpha-L- idutonidase

Hurler

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13
Q 
Skeletal deformities
Hirsutism
Die early
GAG accum
No corneal clouding 
XR
A

↓ Iduronodate Sulphatase

Hunter

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14
Q

AGGRESIVE BEHAVIOR

A

HEPARAN SULPHATE DFCT

SANFILIPPO

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15
Q

NORMAL IQ

PECTINATE CARINATUM

A

DFCT KERATAN SULPHATE DEGRADATION

MORQUIO

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16
Q

RECURRENT INFXNS

HYPOPIGMENTATION

A

MUT IN CHSI/LYST

DELAYED FUSION OF PHAGOSOME WITH LYSOSOME

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17
Q

BIG TOE PAIN

A

↑ URIC ACID/ XANTHINE OXIDASE
↑ UREA CRYSTALS

GOUT

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18
Q

PROMINENT FOREHEAD

BIG LIVER

A

DFCT PEROXISOME DONT RECOG SKL

↑ VLCFA
↓ PLAMALOGEN

ZELLWEGERS

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19
Q

ADRENAL ATROPHY

BREAK ↓ MYELIN

A

VLCFA TX DFCT
↑ TOXIC GLIAL CELLS

X-LINED ADRENOLEUKODYSTROPHY

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20
Q

WEAK MUSCLES
FATIGUE
SIDS

A

CRDIOLIPIN SYNTH DFCT

BARTHS SYN

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21
Q

BILAT PTOSIS

A

MUT PLOG → MUT MTDNA & ↓ MTDNA

PEO

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22
Q

RAGGED RED FIBERS

INVOVLES MUSC

A

GIANT MTDNA DELETE

LATE ONSET
NO BONE MARROW INVOLVMENT

KEARNS SAYRE

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23
Q

↓ RBCs AND WBCs
Fxs whole body
Mostly fxs kids

A

GIANT MTDNA DELETION

WITH BONE MARROW

PEARSON

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24
Q

STROKE
SHORT
DIABETES

A

MUT tRNA-LEUCINE

MELAAS

25
Epilepsy
Mut tRNA - LYSINE MERRF
26
BILAT VISION FAIL
Mut in COMPLEX I of mito The ONLY non-fatal HOMOPLASMIC OPTIC NERVE DMG LHON
27
RETINITIS PIGMENTOSA | ATAXIA
MUT ATPase 6 NARP
28
Colchicine
Binds tubulin & prevents POLYMERIZATION 4 GOUT
29
VINCRISTINE & VINBLASTINE
PREV POLYMERIZATION (binds tubulin) 4 CA with high mitotic index
30
Paclitaxel & Taxol
PREVENTS DEPOLYMERIZATION Blocks MITOSIS
31
Blister @ basal layer
Keratin 5 and 14 Epidermolysis bullosa simplex
32
Suprabasal blister
Keratin 1 and 10 Epidermolytic hyperkeratosis
33
Prominent eyes | Death by arterioslerosis
Lamin A DFCT BLEB FORMATION NPC CLUSTER Progeria
34
Eczema Recurrent infxns Prevents WBC migration Hematopoeitic cells
Mut WASP → no ARP 2/3 activation Wiscott-aldrich
35
``` Early heart failure Gradual CHF development Weak Fatigue Sudden death ```
Mut ACTIN where it binds to Z DISC DILATED CARDIOMYOPATHY
36
``` Asymptomatic CP Palpitations Syncope SOB ```
Mut myosin II (cardiac), troponin, tropomyosin Familiar hypertrophic cardiomyopathy
37
``` Normal at birth Onset - 3-5 yo Big calf Lordosis Gowers sign Progressive Wheelchair by 10 yo Mild cog impair ```
NO DYSTROPHIN → LOSS OF DAP XP21 MUT FRAMESHIFT DMD
38
ONSET = LATE CHILDHOOD / ADOLESENCE VARIABILITY OF SYMPS TYPE OF MD
MUT IN DYSTROPHIN (BUT STILL PRESENT) INFRAME INSERTION/DELETION BMD
39
CONTRACTURES NECK, ELBOW, ANKLES | ARRHYTHMIA
MUT IN EMERIN OR LAMIN A/C EMERY-DREIFUSS MD
40
HAGGARD SIGN MULTISYSTEMIC PTOSIS
MUT IN MYOTONIN PROTEIN KINASE TRINUC RPT DISORDER CTG MYOTONIC DYSTROPHY
41
INABILITY TO PUFF CHEEKS EXPRESSIONLESS FACE WINGED SCAPULA
DELETION OF SUBTELOMETIC TANDEM RPT FACIOSCAPULOHUMERAL MD
42
SIMILAR CHARACTERISTICS AS DMD WEAK IN HIP NO PSEUDOHYPERTROPHY NO COG IMPAIR
DFCT IN SARCOGLYCAN LIMB GIRDLE MD
43
GENERAL MUSC WEAKNESS SEIZURES MR
MUT IN LAMININ CONGENITAL MUSC DYSTROPHY
44
BLEEDING GUMS LOOSE TEETH POOR WOUND HEALING ANEMIA
↓ VIT C/ASORBIC ACID = NO HYDROXYLATION = UNSTABLE COLLAGEN SCURVY
45
TALL AND THIN LONG LIMBS AND FINGERS FUNNEL CHEST (FUNNEL EXCAVATUM0
DEFECT IN FIBRILLIN (ELASTIN) AORTIC ROOT & RETINAL DETATCHMENT AD MARFANS
46
SOB HYPPERVENTILATION BARREL CHEST (HYPER INFLATED)
↓ alpha1-AT AR COPD/ EMPHYSEMA
47
Proteinuria Hematuria HTN DIALYSIS
HSPG (PERLECAN) DEFECT GBM THICKEN INCREASED COLLAGEN DIABETIC NEPHROPATHY
48
SUBEPIDERMAL BLISTERS. ABOVE BASAL LAMINA
HEMIDESMOSOMES - AUTOIMM DESTRUCTION BULLOUS PEMPHIGOID
49
DIARRHEA ABD PAIN GI CA
DFCT IN OCCLUDIN? TIGHT JXN ISSUE CHRON'S / ULCERATIVE COLITIS
50
BLISTERS ON SKIN
DESMOSOME - AUTOIMM DESTRUCTION PEMPHIGUS VULGARIS
51
IMPAIRED DEEP TENDON REFLEX PNS
CONNEXIN 32 MUT DEMYELINATION OF SCHWANN CELLS CHARCOT MARIE TOOTH NEUROPATHY
52
RPT'D LIFE THREATENING BAC INFXNS
MUT IN B2 INTEGRIN INTEGRIN CAN'T BIND ICAM ROLLING STILL OK BUT NO DIAPEDESIS LEUKOCYTE ADHESION DEFICIENCY
53
BRUISED CHILD
MUT OF PLATELET INTEGRIN COMPLEX (B3 INTEGRIN) GLYCOPROTEIN 2B-3A GLANZMANNS THROMBASTHENIA
54
SKELETAL DEFORMITY BONE FXS BLUE SCLERA
Defect in collagen 1 MOST SEVERE = SUB'S OF INVARIANT GLYCINE) Type 2 = fatal Osteogenesis imperfecta
55
Stretchy skin and hyperextendible joints With VASCULAR ISSUES
Mut in type 3 collagen = type 4 ehlers-danlos syn
56
Hematuria HTN DEAFNESS
MUT ALPHA5 OF T4 COLLAGEN MUTATION MUTATION MUTATION ALPORT
57
EARLY ONSET MORE IN MALES GLOMERULONEPHRITIS & RENAL FAILURE
AUTO-AB TO T4 COLLAGEN AUTOIMM AUTOIMM AUTOIMM GOODPASTURE
58
SKIN PEELS WITH MINOR FRICTION BLISTERING BUTTERFLY CHILDREN
MUT IN COLLAGEN 7 = NO ANCHORING FIBRILS Blister = BELOW basal lamina DYSTROPHIC EPIDERMOLYSIS BULLOSA
59
Diabetic nephropathy
Lots of HSPG perlecan in BL of glomerulus. ↑ BG down reg's HSPG → causes collagen to glycosylate & cross-link → basal mem thickens = harder and needs ↑ P of blood to filter

MCB I (5 decks)

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