Every Night Flashcards by American Mouse

CpGs

Methylated to silence transcription

Low transcriptional activity

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Fetal umbilical vein to IVC

Via ductus venosus

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Circadian rhythm disorder

Insomnia or excessive sleepiness due to altered sleep wake schedule

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Reactive arthritis

HLA B27
After GU infection

Conjunctivitis
Back pain
Mono arthritis

Deposition of immune complexes

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Coeliac disease

Atrophy of intestinal villi

Dermatitis herpetiform

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DiGeorge syndrome

Truncus arteriosus

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Hyper IgM syndrome

Defect in CD40L or CD40

No IgG, A or E

Recurrent sinopulmonary GI opportunistic infections

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Cardiac hypertrophy

Increased rate of myosin mRNA synthesis

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Tetracycline
Aminoglycosides
blocks

30S subunit

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Erythromycin and chloramphenicol block

50S subunit

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Anion gap = sodium - (chloride +bicarbonate)

Normal = 10-14

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Flank pain hematuria oliguria metabolic acidosis

Ethylene glycol poisoning
Calcium oxalate crystals

MUDPILES

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Vitamin D increases absorption of

Calcium and phosphate

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Leuprolide decreases LH release from ant pituitary

If continuous

Decreased testosterone production from leydig cells

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Varicoceles regress with

Lying down

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Thermal cycling PCR

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

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FSGS

HIV

Collapsing glomerulonephropathy

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Transformation

Bacteria take up naked foreign DNA

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Prader Willi syndrome

BOTH 15s FROM MOTHER

LOSS of paternal alleles

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PCOD

Increased testosterone

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Maxillary sinuses drain into

Middle nasal meatus

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Hepatosplenomegaly
Pancytopenia
Bone pain osteopenia

Wrinkled tissue paper macrophage

Gaucher

Def of B glucocerebrosidase

Glucocerebrosidase

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Angiokeratomas
Peripheral neuropathy
Glomerulopathy

Fabry XLR

Def of a-galactiosidase

Globotriaosylceramide

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Macular cherry red spot

Progressive neuro Degeneration

Tay Sachs

Def of B hexosaminidase A

GM2 ganglioside

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Macular cherry red spot Neuro degeneration HEPATOSPLENOMEGALY

Niemann Pick Def of sphingomyelinase Sphingomyelin

Progressive neurodegeneration Peripheral neuropathy Optic atrophy

Krabbe Def of galactocerebrosidase Galactocerebrosidase Psychosine

Progressive neuro Degeneration | Peripheral neuropathy

Metachromatic leukodystrophy Def of arylsulfatase A Cerebroside sulfate

Transcription factors causes

Cell differentiation And Dedifferentiation

I band lengthens during

Muscle relaxation

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

Pilocarpine can ?

Constrict the denervated eye

Vasoconstriction and tachycardia Sympathetic response Epi/ norepinephrine—> a1

Phosphatidylinositol 2nd messenger Gq Phospholipase C IP3 DAG Ca PKC SMOOTH MUSCLE CONTRACTION

Pernicious anaemia

Autoimmune destruction of gastric mucosa Decreased gastric acid Increase in gastrin No IF —> B12 def, peripheral neuropathy

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

Chiari malformation

Teens Occipital headaches Cerebellar dysfunction Worse with Valsalva Tonsillar herniation through foramen magnum

Osteoarthritis

Degradation of type || collagen and proteoglycans in articulation cartilage

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

Asthma tx Anti leukotriene meds Montelukast zafirlukast

Block cysteinyl leukotriene receptors

Cisplatin SE

Tinnitus | Hearing loss

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

Substrate w colour change added

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

Fragile germinal matrix in premies =

IVH | bulging fontanelle

Glucagon receptor

Gs AC cAMP

Epinephrine receptor

Gs B2 AC cAMP

Insulin receptor

Receptor tyrosine kinase Phosphoinositide 3-kinase

Round ligament

Goes through inguinal canal to labia majora

RNA splicing forms loops in DNA because

The complimentary mRNA introns have been spliced out post transcription

``` 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

Absent uterus and upper vagina | Normal ovaries

46XX | Mullerian agenesis

Abnormal vagina Normal uterus and ovaries

Transverse vaginal septum Malformation of urogenital sinuses and Müllerian ducts 46XX

Maple syrup urine disease

Alpha ketoacid dehydrogenase needs B1 thiamine

A thalassemia minor

Mild microcytic anaemia

PE labs

Hypocapnia Resp alkalosis Increased pH Decreased PaCO2

DKA labs

Increased glucose and potassium | Decreased sodium

X linked agammaglobulinemia BTK

B cells can’t mature | CD19 positive cells missing

Short stature Midface hypoplasia Frontal bossing

FGFR3 gene

ABP needed to maintain testosterone levels in seminiferous tubules ABP produced by

Sertoli cells

Splenic vein has increased pressure in

Cirrhosis

Nitrates increase HR and decrease

ED LVV

Proteins going to RER possess hydrophobic N terminal peptide signal sequences

If removed they accumulate in the cytosol

TZD pioglitazone PPARy agonists increase transcription of insulin responsive genes like

GLUT4 Adiponectin

Viral meningitis

Picornavirus Enterovirus 90% Naked ss positive sense RNA virus

1 hit gain of function proto oncogenes

``` RAS MYC EGFR HER2 ABL BRAF ```

2 hit loss of function

``` BRCA1/2 APC TP53 RWT1 VHL ```

RAS

GTP binding protein Cholangiocarcinoma Pancreatic adenocarcinoma

MYC

Transcription factor Burkitt lymphoma

EGFR

Receptor tyrosine kinase Lung adenocarcinoma

HER2

Receptor tyrosine kinase

ABL

Nonreceptor tyrosine kinase CML

BRAF

RAS signal transduction Hairy cell leukaemia Melanoma

APC

Wnt signalling pathway

G1/S transition inhibitor

WT1

Urogenital differentiation Wilms tumour

VHL

Ubiquitin ligase component VHL RCC

Haploid Inner and outer membrane Absent nuclear membrane

E. coli

Acute bacterial prostatitis

Dysuria fever ect

Crohns

Abscess | Terminal ileum

IPAH

Pulmonary endothelial dysfunction

Hashimotos

Germinal centres

Achalasia

Inflammation and Degeneration of neurons in esophageal walls

Broca’s area

Agrammatic speech

ASD

Fixed splitting of S2

CYP450 inhibitors Increase warfarin effect and bleeding risk

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

CYP450 inducers Decrease warfarin effect And efficacy

``` Carbamazepine phenytoin Ginseng St Johns wort OCP Phenobarbital Rifampin ```

Dilated aorta

L recurrent laryngeal nerve hoarseness | Post cricoarytenoid muscle dysfunction

Invariant chain removed during antigen processing in macrophages

MHC peptide complex A chain B chain External protein expressed

Hypoglycaemia after prolonged fasting and v low ketone bodies

Impaired B oxidation Medium chain acyl-CoA dehydrogenase deficiency

Autonomic postganglionic nerve

Unmyelinated Group C