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Flashcards in Every Night Deck (88):
1

CpGs

Methylated to silence transcription

Low transcriptional activity

2

Fetal umbilical vein to IVC

Via ductus venosus

3

Circadian rhythm disorder

Insomnia or excessive sleepiness due to altered sleep wake schedule

4

Reactive arthritis

HLA B27
After GU infection

Conjunctivitis
Back pain
Mono arthritis

Deposition of immune complexes

5

Coeliac disease

Atrophy of intestinal villi

Dermatitis herpetiform

6

DiGeorge syndrome

Truncus arteriosus

7

Hyper IgM syndrome

Defect in CD40L or CD40

No IgG, A or E

Recurrent sinopulmonary GI opportunistic infections

8

Cardiac hypertrophy

Increased rate of myosin mRNA synthesis

9

Tetracycline
Aminoglycosides
blocks

30S subunit

10

Erythromycin and chloramphenicol block

50S subunit

11

Anion gap = sodium - (chloride +bicarbonate)

Normal = 10-14

12

Flank pain hematuria oliguria metabolic acidosis

Ethylene glycol poisoning
Calcium oxalate crystals

MUDPILES

13

Vitamin D increases absorption of

Calcium and phosphate

14

Leuprolide decreases LH release from ant pituitary

If continuous
Decreased testosterone production from leydig cells

15

Varicoceles regress with

Lying down

16

Thermal cycling PCR

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

17

FSGS

HIV
Collapsing glomerulonephropathy

18

Transformation

Bacteria take up naked foreign DNA

19

Prader Willi syndrome

BOTH 15s FROM MOTHER

LOSS of paternal alleles

20

PCOD

Increased testosterone

21

Maxillary sinuses drain into

Middle nasal meatus

22

Hepatosplenomegaly
Pancytopenia
Bone pain osteopenia

Wrinkled tissue paper macrophage

Gaucher

Def of B glucocerebrosidase

Glucocerebrosidase

23

Angiokeratomas
Peripheral neuropathy
Glomerulopathy

Fabry XLR

Def of a-galactiosidase

Globotriaosylceramide

24

Macular cherry red spot
Progressive neuro Degeneration

Tay Sachs

Def of B hexosaminidase A

GM2 ganglioside

25

Macular cherry red spot
Neuro degeneration
HEPATOSPLENOMEGALY

Niemann Pick

Def of sphingomyelinase

Sphingomyelin

26

Progressive neurodegeneration
Peripheral neuropathy
Optic atrophy

Krabbe

Def of galactocerebrosidase

Galactocerebrosidase
Psychosine

27

Progressive neuro Degeneration
Peripheral neuropathy

Metachromatic leukodystrophy

Def of arylsulfatase A

Cerebroside sulfate

28

Transcription factors causes

Cell differentiation
And
Dedifferentiation

29

I band lengthens during

Muscle relaxation

30

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

Contraction velocity increases when

Afterload is decreased

Preload - initial muscle fibre length prior to contraction

31

Pilocarpine can ?

Constrict the denervated eye

32

Vasoconstriction and tachycardia
Sympathetic response
Epi/ norepinephrine—> a1

Phosphatidylinositol 2nd messenger

Gq
Phospholipase C
IP3 DAG
Ca PKC

SMOOTH MUSCLE CONTRACTION

33

Pernicious anaemia

Autoimmune destruction of gastric mucosa

Decreased gastric acid

Increase in gastrin

No IF —> B12 def, peripheral neuropathy

34

NERD or aspirin exacerbated resp disease

Asthma, nasal polyps and chronic rhinosinusitis

Aspirin blocks COX, more

Leukotrienes formed

Tx montelukast Leuko-receptor antagonist
Zileuton 5-lipo inhibitors

35

Chiari malformation

Teens
Occipital headaches
Cerebellar dysfunction
Worse with Valsalva

Tonsillar herniation through foramen magnum

36

Osteoarthritis

Degradation of type || collagen and proteoglycans in articulation cartilage

37

CFTR has tissue specific functions

Sweat glands mutations prevents salt reabsorption high sodium and chloride

Resp mutations cause thick viscid secretions low in sodium and chloride

38

Asthma tx

Anti leukotriene meds
Montelukast zafirlukast

Block cysteinyl leukotriene receptors

39

Cisplatin SE

Tinnitus
Hearing loss

40

ELISA steps

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

Finally

Substrate w colour change added

41

Pseudohypoparathyroidism

Albright hereditary osteodystrophy

End organ resistance to PTH
Hypocalcemia
Hyperphosphatemia

Short metacarpal and metatarsal bones

GNAS1

If paternally Inherited = pseudopseudo
Defects but normal labs

42

Fragile germinal matrix in premies =

IVH
bulging fontanelle

43

Glucagon receptor

Gs

AC cAMP

44

Epinephrine receptor

Gs B2

AC cAMP

45

Insulin receptor

Receptor tyrosine kinase

Phosphoinositide 3-kinase

46

Round ligament

Goes through inguinal canal to labia majora

47

RNA splicing forms loops in DNA because

The complimentary mRNA introns have been spliced out post transcription

48

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

Complete androgen insensitivity syndrome

X linked mutation of androgen receptor

49

Absent uterus and upper vagina
Normal ovaries

46XX
Mullerian agenesis

50

Abnormal vagina

Normal uterus and ovaries

Transverse vaginal septum

Malformation of urogenital sinuses and Müllerian ducts

46XX

51

Maple syrup urine disease

Alpha ketoacid dehydrogenase needs B1 thiamine

52

A thalassemia minor

Mild microcytic anaemia

53

PE labs

Hypocapnia

Resp alkalosis
Increased pH
Decreased PaCO2

54

DKA labs

Increased glucose and potassium
Decreased sodium

55

X linked agammaglobulinemia

BTK

B cells can’t mature
CD19 positive cells missing

56

Short stature
Midface hypoplasia
Frontal bossing

FGFR3 gene

57

ABP needed to maintain testosterone levels in seminiferous tubules

ABP produced by

Sertoli cells

58

Splenic vein has increased pressure in

Cirrhosis

59

Nitrates increase HR and decrease

ED LVV

60

Proteins going to RER possess hydrophobic N terminal peptide signal sequences

If removed they accumulate in the cytosol

61

TZD
pioglitazone

PPARy agonists increase transcription of insulin responsive genes like

GLUT4

Adiponectin

62

Viral meningitis

Picornavirus

Enterovirus 90%

Naked ss positive sense RNA virus

63

1 hit gain of function proto oncogenes

RAS
MYC
EGFR
HER2
ABL
BRAF

64

2 hit loss of function

BRCA1/2
APC
TP53
RWT1
VHL

65

RAS

GTP binding protein

Cholangiocarcinoma
Pancreatic adenocarcinoma

66

MYC

Transcription factor

Burkitt lymphoma

67

EGFR

Receptor tyrosine kinase

Lung adenocarcinoma

68

HER2

Receptor tyrosine kinase

69

ABL

Nonreceptor tyrosine kinase

CML

70

BRAF

RAS signal transduction

Hairy cell leukaemia
Melanoma

71

APC

Wnt signalling pathway

72

RB

G1/S transition inhibitor

73

WT1

Urogenital differentiation

Wilms tumour

74

VHL

Ubiquitin ligase component

VHL
RCC

75

Haploid
Inner and outer membrane
Absent nuclear membrane

E. coli

76

Acute bacterial prostatitis

Dysuria fever ect

77

Crohns

Abscess
Terminal ileum

78

IPAH

Pulmonary endothelial dysfunction

79

Hashimotos

Germinal centres

80

Achalasia

Inflammation and Degeneration of neurons in esophageal walls

81

Broca’s area

Agrammatic speech

82

ASD

Fixed splitting of S2

83

CYP450 inhibitors

Increase warfarin effect and bleeding risk

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

84

CYP450 inducers

Decrease warfarin effect
And efficacy

Carbamazepine phenytoin
Ginseng St Johns wort
OCP
Phenobarbital
Rifampin

85

Dilated aorta

L recurrent laryngeal nerve hoarseness
Post cricoarytenoid muscle dysfunction

86

Invariant chain removed during antigen processing in macrophages

MHC peptide complex
A chain
B chain
External protein expressed

87

Hypoglycaemia after prolonged fasting and v low ketone bodies

Impaired B oxidation

Medium chain acyl-CoA dehydrogenase deficiency

88

Autonomic postganglionic nerve

Unmyelinated

Group C