Every Night Flashcards

1
Q

CpGs

A

Methylated to silence transcription

Low transcriptional activity

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2
Q

Fetal umbilical vein to IVC

A

Via ductus venosus

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3
Q

Circadian rhythm disorder

A

Insomnia or excessive sleepiness due to altered sleep wake schedule

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4
Q

Reactive arthritis

A

HLA B27
After GU infection

Conjunctivitis
Back pain
Mono arthritis

Deposition of immune complexes

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5
Q

Coeliac disease

A

Atrophy of intestinal villi

Dermatitis herpetiform

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6
Q

DiGeorge syndrome

A

Truncus arteriosus

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7
Q

Hyper IgM syndrome

A

Defect in CD40L or CD40

No IgG, A or E

Recurrent sinopulmonary GI opportunistic infections

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8
Q

Cardiac hypertrophy

A

Increased rate of myosin mRNA synthesis

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9
Q

Tetracycline
Aminoglycosides
blocks

A

30S subunit

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10
Q

Erythromycin and chloramphenicol block

A

50S subunit

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11
Q

Anion gap = sodium - (chloride +bicarbonate)

A

Normal = 10-14

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12
Q

Flank pain hematuria oliguria metabolic acidosis

A

Ethylene glycol poisoning
Calcium oxalate crystals

MUDPILES

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13
Q

Vitamin D increases absorption of

A

Calcium and phosphate

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14
Q

Leuprolide decreases LH release from ant pituitary

A

If continuous

Decreased testosterone production from leydig cells

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15
Q

Varicoceles regress with

A

Lying down

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16
Q

Thermal cycling PCR

A

Heating for DNA strand denaturation
Cooling for primer hybridisation
Rewarming for primer extension and DNA synthesis

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17
Q

FSGS

A

HIV

Collapsing glomerulonephropathy

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18
Q

Transformation

A

Bacteria take up naked foreign DNA

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19
Q

Prader Willi syndrome

A

BOTH 15s FROM MOTHER

LOSS of paternal alleles

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20
Q

PCOD

A

Increased testosterone

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21
Q

Maxillary sinuses drain into

A

Middle nasal meatus

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22
Q

Hepatosplenomegaly
Pancytopenia
Bone pain osteopenia

Wrinkled tissue paper macrophage

A

Gaucher

Def of B glucocerebrosidase

Glucocerebrosidase

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23
Q

Angiokeratomas
Peripheral neuropathy
Glomerulopathy

A

Fabry XLR

Def of a-galactiosidase

Globotriaosylceramide

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24
Q

Macular cherry red spot

Progressive neuro Degeneration

A

Tay Sachs

Def of B hexosaminidase A

GM2 ganglioside

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25
Q

Macular cherry red spot
Neuro degeneration
HEPATOSPLENOMEGALY

A

Niemann Pick

Def of sphingomyelinase

Sphingomyelin

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26
Q

Progressive neurodegeneration
Peripheral neuropathy
Optic atrophy

A

Krabbe

Def of galactocerebrosidase

Galactocerebrosidase
Psychosine

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27
Q

Progressive neuro Degeneration

Peripheral neuropathy

A

Metachromatic leukodystrophy

Def of arylsulfatase A

Cerebroside sulfate

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28
Q

Transcription factors causes

A

Cell differentiation
And
Dedifferentiation

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29
Q

I band lengthens during

A

Muscle relaxation

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30
Q

Afterload in skeletal muscle is force against which muscle fibre must contract

Contraction velocity increases when

A

Afterload is decreased

Preload - initial muscle fibre length prior to contraction

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31
Q

Pilocarpine can ?

A

Constrict the denervated eye

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32
Q

Vasoconstriction and tachycardia
Sympathetic response
Epi/ norepinephrine—> a1

A

Phosphatidylinositol 2nd messenger

Gq
Phospholipase C
IP3 DAG
Ca PKC

SMOOTH MUSCLE CONTRACTION

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33
Q

Pernicious anaemia

A

Autoimmune destruction of gastric mucosa

Decreased gastric acid

Increase in gastrin

No IF —> B12 def, peripheral neuropathy

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34
Q

NERD or aspirin exacerbated resp disease

Asthma, nasal polyps and chronic rhinosinusitis

Aspirin blocks COX, more

A

Leukotrienes formed

Tx montelukast Leuko-receptor antagonist
Zileuton 5-lipo inhibitors

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35
Q

Chiari malformation

A

Teens
Occipital headaches
Cerebellar dysfunction
Worse with Valsalva

Tonsillar herniation through foramen magnum

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36
Q

Osteoarthritis

A

Degradation of type || collagen and proteoglycans in articulation cartilage

37
Q

CFTR has tissue specific functions

A

Sweat glands mutations prevents salt reabsorption high sodium and chloride

Resp mutations cause thick viscid secretions low in sodium and chloride

38
Q

Asthma tx

Anti leukotriene meds
Montelukast zafirlukast

A

Block cysteinyl leukotriene receptors

39
Q

Cisplatin SE

A

Tinnitus

Hearing loss

40
Q

ELISA steps

Known antigen fixed to well
Patient serum added
Anti human IgG antibody couple to per oxidase

Finally

A

Substrate w colour change added

41
Q

Pseudohypoparathyroidism

Albright hereditary osteodystrophy

A

End organ resistance to PTH
Hypocalcemia
Hyperphosphatemia

Short metacarpal and metatarsal bones

GNAS1

If paternally Inherited = pseudopseudo
Defects but normal labs

42
Q

Fragile germinal matrix in premies =

A

IVH

bulging fontanelle

43
Q

Glucagon receptor

A

Gs

AC cAMP

44
Q

Epinephrine receptor

A

Gs B2

AC cAMP

45
Q

Insulin receptor

A

Receptor tyrosine kinase

Phosphoinositide 3-kinase

46
Q

Round ligament

A

Goes through inguinal canal to labia majora

47
Q

RNA splicing forms loops in DNA because

A

The complimentary mRNA introns have been spliced out post transcription

48
Q
Absent uterus and upper vagina 
Cryptorchid testes
Minimal pubic hair
Breast development estradiol
46 XY
A

Complete androgen insensitivity syndrome

X linked mutation of androgen receptor

49
Q

Absent uterus and upper vagina

Normal ovaries

A

46XX

Mullerian agenesis

50
Q

Abnormal vagina

Normal uterus and ovaries

A

Transverse vaginal septum

Malformation of urogenital sinuses and Müllerian ducts

46XX

51
Q

Maple syrup urine disease

A

Alpha ketoacid dehydrogenase needs B1 thiamine

52
Q

A thalassemia minor

A

Mild microcytic anaemia

53
Q

PE labs

A

Hypocapnia

Resp alkalosis
Increased pH
Decreased PaCO2

54
Q

DKA labs

A

Increased glucose and potassium

Decreased sodium

55
Q

X linked agammaglobulinemia

BTK

A

B cells can’t mature

CD19 positive cells missing

56
Q

Short stature
Midface hypoplasia
Frontal bossing

A

FGFR3 gene

57
Q

ABP needed to maintain testosterone levels in seminiferous tubules

ABP produced by

A

Sertoli cells

58
Q

Splenic vein has increased pressure in

A

Cirrhosis

59
Q

Nitrates increase HR and decrease

A

ED LVV

60
Q

Proteins going to RER possess hydrophobic N terminal peptide signal sequences

A

If removed they accumulate in the cytosol

61
Q

TZD
pioglitazone

PPARy agonists increase transcription of insulin responsive genes like

A

GLUT4

Adiponectin

62
Q

Viral meningitis

A

Picornavirus

Enterovirus 90%

Naked ss positive sense RNA virus

63
Q

1 hit gain of function proto oncogenes

A
RAS
MYC
EGFR
HER2
ABL
BRAF
64
Q

2 hit loss of function

A
BRCA1/2
APC
TP53
RWT1
VHL
65
Q

RAS

A

GTP binding protein

Cholangiocarcinoma
Pancreatic adenocarcinoma

66
Q

MYC

A

Transcription factor

Burkitt lymphoma

67
Q

EGFR

A

Receptor tyrosine kinase

Lung adenocarcinoma

68
Q

HER2

A

Receptor tyrosine kinase

69
Q

ABL

A

Nonreceptor tyrosine kinase

CML

70
Q

BRAF

A

RAS signal transduction

Hairy cell leukaemia
Melanoma

71
Q

APC

A

Wnt signalling pathway

72
Q

RB

A

G1/S transition inhibitor

73
Q

WT1

A

Urogenital differentiation

Wilms tumour

74
Q

VHL

A

Ubiquitin ligase component

VHL
RCC

75
Q

Haploid
Inner and outer membrane
Absent nuclear membrane

A

E. coli

76
Q

Acute bacterial prostatitis

A

Dysuria fever ect

77
Q

Crohns

A

Abscess

Terminal ileum

78
Q

IPAH

A

Pulmonary endothelial dysfunction

79
Q

Hashimotos

A

Germinal centres

80
Q

Achalasia

A

Inflammation and Degeneration of neurons in esophageal walls

81
Q

Broca’s area

A

Agrammatic speech

82
Q

ASD

A

Fixed splitting of S2

83
Q

CYP450 inhibitors

Increase warfarin effect and bleeding risk

A
NSAIDs
Antibiotics antifungals
Amiodarone
Cimetidine 
Cranberry juice Gingko vitE
Omeprazole
Thyroid hormone 
SSRIs
84
Q

CYP450 inducers

Decrease warfarin effect
And efficacy

A
Carbamazepine phenytoin 
Ginseng St Johns wort
OCP
Phenobarbital 
Rifampin
85
Q

Dilated aorta

A

L recurrent laryngeal nerve hoarseness

Post cricoarytenoid muscle dysfunction

86
Q

Invariant chain removed during antigen processing in macrophages

A

MHC peptide complex
A chain
B chain
External protein expressed

87
Q

Hypoglycaemia after prolonged fasting and v low ketone bodies

A

Impaired B oxidation

Medium chain acyl-CoA dehydrogenase deficiency

88
Q

Autonomic postganglionic nerve

A

Unmyelinated

Group C