Mixed Q’s 6 Flashcards
Impaired transport of ornithine - restriction of which nutritional substance helps?
Impaired transport of ornithine is due to ornithine translocase deficiency in hepatic urea cycle.
Restriction of protein helps
Erythrocytosis features causes
HCT >52% in males and >48% females
Absolute high RBC mass
1o due to myeloproliferative disorders PCV
2o due to hypoxia PaO2 <65mmHg
Or epo producing tumour
Relative low RBC mass 2o dehydration/ excessive diuresis
What shifts the HgB O2 dissociation curve to the left
Hgb wants to hang on to the O2 and not release it to tissues
Decreased H+ —> high pH
Decreased 2,3 BPG
Decreased temp —> hypothermia
Carbon monoxide poisoning
Will lead to renal hypoxia, increase EPO production in—> erythrocytosis
What moves HgB O2 dissociation curve to the Rt
I.e less affinity for O2 —> will give it up easily
Increased H+ —-> decreased pH —> anaemia, strenuous exercise
Increased 2,3 BPG —> COPD, HF , chronic high altitude
Hyperthermia
Erythrocytes use of glycolysis
Produces no ATP
Using 2,3 bisphosphoglycerate to by pass the ATP generating step.
Uses when there’s low blood O2 concentrations.
2,3 BPG lowers Hgb’s affinity for O2
Cold agglutinins
Bacteria e.g mycoplasma pneumoniae attaches to I antigen in resp epithelium also found in RBC, body forms cross reacting IgM —> these bind to RBC in cold areas of body , ears ,nose.
Causing haemolytic anaemia, high Retics count, high LDH
IgM level falls 4 weeks after initial infection 2o fading immune response
Hepcidin
Central regulator of iron homeostasis
Produced by hepatic parenchymal cells
Myoglobin and HgB O2 dissociation curve
Myoglobin has one monomeric subunit. If HgB is divided it too will act like myoglobin
Myoglobin found in skeletal tissue has v high affinity for O2.
Tumour lysis syndrome
Occurs after initiation of chemotherapy in pts with high cell turnover haemotologic malignancy (e.g. ALL)
Hyper PO4 —> CaPo4 stones
Hyperuricaemia —> Uric acid stones
Hyper K —-> cardiac arrhythmias
HypoCa
INH haematologic SE
Can lead to sideroblastic anaemia
INH inhibits pyridoxine phosphokinase enz needed to convert B6 (pyridoxine) to PLP. which is a co-factor for ALA synthase. Rate limiting enz in haem synthesis
Causing accumulation of iron in mitochondria around the nucleus
HgB types
HbA:- 2 alpha 2 beta ( starts to get produced last month of gestation onwards)
HbF:- 2 alpha 2 gamma ( gets replaced by HbA postnatally)
HbA2:- 2 alpha 2 delta
Hb gower:- ( first weeks of gestation) 2 zeta 2 epsilon
Aplastic crisis features and causes
Cause:- Parvovirus B19– nonenveloped single stranded DNA virus
Features :- severe anaemia following minor febrile illness. BM unable to repsond —> low Retics count
CKD anaemia
Normocytic anaemia 2o decrease EPO production in peritubular fibroblasts cells in renal cortex.
Therefore decrease in progenitor cell differentiation
Fluorescence in situ hybridisation use
Used to identify specific chromosomal translocations, duplication or deletions
Complication of high volume transfusion
Acute hypocalcaemia
2o citrate used as an anticoag in the blood chelating Ca
G6PD like clinical scenario with another causative enzyme
Glutathione reductase deficiency
Haemolytic anaemia and jaundice 2o oxidative stress due to inability to use NADPH
Underlying biochemical feature of megaloblastic anaemia in the setting of chronic alcohol misuse
Deficiency in B9/B12 —> defect in DNA synthesis
Lack of purine, pyramidine (thymidine) synthesis
HgB C
Caused by missence mutation
Glutamate substituted by lysine in beta globe chain
Features:- asymptomatic, mild haemolytic anaemia, splenomegaly
Carbon monoxide poisoning
Shifts O2 Hgb association curve to the LT
Increase carboxy HgB %
No change in PaO2
No change in methaemoglobin level
VWF features
VWF binds to G1B receptors on plts to mediate plt adhesion
Carrier for factor VIII
Labs:- N plt count , abnormal ristocetin cofactor assay—> Normally plts donor agglutinate in presence of ristocetin
Deficiency symptoms:- mucocutaneous bleeding
Adenomysosis
Abnormal presence of endometrial glands and storms in myometrium
Features:- dysmenorrhea, heavy menses and a uniformly enlarged uterus
Risk factor:- previous uterine surgery, previous pregnancy
Types of population pyramids
Expansive:- young growing population, high birth rates, high rates of mortality shorter life expectancy ( upside down v)
Stationary:- (Empire State building) decline birth rates, low mortatlity, long life expectancy, stable population
Constrictive:- low birth rates, low mortality rate, long life expectancy, shrinking population ( think china
Eosinophil role in parasitic infection
Stimulated by antibodies bound to parasite
Destroy parasite by antibody dependent cell mediated cytotoxicity with enzymes from their cytoplasmic granules
Chains of command of reporting a impaired colleague
Should be done in timely fashion
1. Colleagues supervisor
2. In non emergency - physician health progress
3. If not possible - the state licensing board
Cyanide poisoning
Mitochondrial toxin bind to Fe3+ / in cytochrome c oxidase—> blocks electron transport chain —> prevent ADP production by oxidative phosphorylation —> cells switch to anaerobic glycolysis —> lactic acidosis
Symptoms:- SoB, dizziness, palpitations, reddish discoloration of the skin
Mgx:- hydroxycobalamin prevents cyanide binding to ferric Fe3+
Autosomal recessive disease chance of passing to the child
25% (1in 4) of child inheriting 2 normal alleles
50% (2 in 4) of child inheriting 1 abnormal allele ( carrier)
25% (1 in 4) of child inheriting 2 abnormal alleles
(Affected)
75% chance of having 1 or more abnormal allele
Hearing loss test
Rinne:-
Normal and sensorineural loss:- AC > BC
Conductive hearing loss BC> AC in affected ear
Weber:- (glabellar)
Normal:- Midline
Senorineural hearing loss:- unaffected ear
Conductive hearing loss:- affected ear
Tumour in temporal lobe -> visual field defect
Contralateral homonymous hemianopia superior quadrantopia ( top lt corner both eyes)
Argatroban MoA and use
Direct thrombin inhibitor
Along with hirudin and lepirudin, bivalirudin, dabigatran
Use: Heparin induced thrombocytopenia
Direct Xa inhibitors
Block active site of Xa and prevent conversion of prothrombin (II) to thrombin (IIa)
Names end in Xa-ban
Which organ repsonds to chronic hypoxaemia by increasing HCt
Kidney sense hypoxia inducing factor 1 alpha —->increase EPO production —> stimulate BM to accelerate erythrocytes precursor —> raised HCt
DIC
Can be caused by exertional heat stroke
Prolonged PT/PTT
Low PLT
Increased plasminogen
Increased fibrinolysis
Increased thrombin production
Etoposide MOA and use
Derivative of plant alkaloid podophylotoxin
Targets topisomerase II —> induces transient breaks on both DNA strands causing chromosomal breaks and cell death
Use :- testicular cancer and small cell lung cancer
Ureamic plt dysfunction
Disorder with plt quality
Prolonged BT
N PLt
N PT/PTT
Factor V Leiden mutation
Hypercoagulable
Young pt <50
Inherited
Factor Va resistant to inactivation by activated protein C
PTT not changed when adding protein C to plasma
Sickle cell disease complication
Autosplenectomy 2o repeated splenic infarction a
Anaemia of chronic disease
Triggered by longstanding inflammation cytokines
Hepcidin —> inhibits iron channels reducing iron availability
Normocytic non haemolysis anaemia with minimal retics response
VWF disease
Impaired vWF —> decreased ability for plt to adhere to endothelial —> normal PLT count
VWF is a carrier for VIII
Normal PT , prolonged PTT
Vitamin K deficiency
Risk with cystic fibrosis patient 2o fat malabsorption and decreased fat soluble vitamins ADEK
Causes:- mucosal bleeding, epistaxis
Prolonged PT
Enoxaparin MoA
Low molecular weight heparin
Bind and activates anti thrombin III
Binds to Xa and stops it from converting prothrombin to thrombin
Hairy cell leukaemia
B cell neoplasm
Middle aged men
Pancytopenia and massive spleenomegly
BM fibrosis —> dry Tap
TRAP +ve
Lymphocytes with cytoplasmic protections
T cell acute lymphoblastic leukaemia
Young adults signs of bone marrow failure
Signs:- mediastinal mass, resp symptoms or superior vena caval syndrome 2o compression
Flow cytometry with T lymphoblast TdT ( terminal deoxynucleotidyl transferase) CD 3 +ve (CD <10)
Doxazocin
Alpha 1 blocker
Relax smooth muscle
Use:- HTN, BPH
Similar drugs:- prazosin, terazosin
Thickened bladder, bilateral vesicourreteral reflux and hydronephrosis in a newborn boy?
Posterior urethral valve
Likely 2o persistent urogenital membrane obstruction the posterior urethra
Niacin by production and SE of OD
Niacin is the precursor of NAD and NADPH
Toxicity:- cutaneous flushing, pruritis, 2o increase prostaglandin production
Pre-treat with NSAIDS
Serotoli and testicular trauma
Sertoli cells form tight junction to make the blood testis barrier which controls environment for developing sperm.
Damage to blood testis barrier will lead to anti sperm AB and decreased fertility
Why is there a drop in oxygenation between alveolar capillary blood and systemic arterial blood
2o mixture with deoxygenated bld
Bld coming from the pulmonary veins is not 100% oxygenated - contains deoxygenated blood from bronchial veins
Normal grief reaction in child
Transient behavioural disturbances e.g hallucinations of the deceased relative normal grief
Cells responsible for protecting against Invasive candida
Neutrophils most important
Pts on chemo develop neutropenia are at risk
T cells responsible for protection against superficial mucosal candida
SAH complication hydrocephalus cause
Communicating hydrocephalus is 2o Impaired absorption of CSF by arachnoid granulations
Enlargement of all 4 ventricles
Deteriorating mental status
Treatment:- external ventricular drain
Complication from schistosomiasis
Portal HTN —> 2o periportal fibrosis
Hepatosplenomegaly
Oesophageal varices
Sq cell Bladder Ca
Eosinophilia important clue
Femoral hernia landmarks
Bulge lateral to pubic tubercle
Inferior to inguinal ligament
Medial to Lateral to it is VAN ( femoral vein, artery, nerve)
More common in women
CMV oesophagitis
HIV assoc oesophagitis
Linear ulceraration
Intranuclear and cytoplasmic inclusion
Pt with CKD, Normal PLT, N coag with hx of excessive bruising
Platelet dysfunction
2o upregulation of nitric oxide —> decreased plt adhesion, activation and aggregation
Allergic contact dermatitis
Type IV hypersensitivity reaction
Intercellular epidermal oedema, with infiltration of lymphocytes and eosinophils
Teratoma features
Contain tissues from each of the 3 germ cell layers e.g , hair, teeth skeletal muscle, intestinal epithelium
Arise from primordial germ cell
Mgx of panic disorder
SSRI first line
Chronic Granulomatous disease
1o immunodeficiency X linked
Impaired NADPH
Recurrent infection with catalase +Ve organisms
HER2 breast Ca Mgx
HER2 is a receptor tyrosine kinase
Monoclonal antibody used ( trastuzumab) blocks HER2 and inhibits cellular proliferation
Rett Syndrome
Occurs mainly in girls
MECP2 gene mutation
Normal development till age 6-18/12
Then loss of motor and language skills
Development of stereotypic hand movement
Slowing of head growth ( classic feature)
Small intestinal bacterial overgrowth features
Excessive intestinal gas and diarrhoea
Excessive bacterial proliferation in intenstine on jeujunal fluid culture
Imp cause impaired migrating motor complex (i.e. impaired gut motility) esp in otherwise normal pts
MoA of fusion inhibitors in HIV treatment
Fusion inhibitors (enfuvirtide) bind HIV transmembrane glycoprotein gp41 prevent entry of viral core into the new host cell
Listeriosis
G+ve mobile rod
Common cause of food borne illness outbreaks
Contaminated processed meat and dairy products
Gastroenteritis, can cause prem birth, fetal death
Invasive ( meningioencephalitis, sepsis) in immunocompromised
2,3 BPG and HBF
Decrease binding between the 2
Leading to increased Hgb O2 affinity
Parvovirus B19 can cause
Slapped check (erythema infectious/ fifth disease) in children
Acute symmetrical Arthritis in adults (can mimic RA but is self resolving ) affects proximal interphalangeal, metacarpal, knee, ankle
Lambert Eaton myasthenic syndrome features:
Progressive muscle weakness
Decreased deep tendon reflexes
Improve with exercise
Assoc with SCLC
Hydrocele common in newborns cause
Communicating hydrocele
2o patent processus vaginalis
Cardiopulmonary changes seen with old age
Decreased HR and C.O —> 2o decreased responsiveness to adrenergic stimuli
Decreased artery compliance
Mild LVH
Increased V/Q mismatch
Decreased gas exhange surface area
Decreased diaphragm strength
Inferior alveolar nerve innervation
Lower teeth and gives off the mental nerve which innervates the chin and lower lip
Can be injured during dental procedures
Neurohormonal levels in asymptomatic Lt ventricular systolic dysfunction
Increased angiotensin II
Increased norepinephrine
Increased ANP
Blood supply of the distal oesophagus - affected in oesphageal varices
Lt gastric artery
Ornithine transcarbamylase deficiency
X linked
Urea cycle —> decreased ability to break down ammonia
Increase orthonine —> increase urinary Orotic acid
Hyperammonemia
Symptom:- vomiting, confusion, coma
** difference between this and ortoic acid urea from pyrimidine synthesis defect is presence of hyperammonemia here***
Pernicious Anaemia site of pathology in the stomach
Cell mediated destruction of parietal cells in the superficial upper glandular layer of the gastric body and fundus.
Genetic anticipation
Inherited disease condition that presents earlier and more severe in subsequent generations
The difference between minute ventilation and alveolar ventilation
Minute ventilation = VT ( tidal volume) x RR
Alveolar ventilation= (VT- Vd dead space) X RR
Therefore what accounts for the difference is the dead stance
Wernicke’s aphasia
Receptive aphasia - well articulated but meaningless (word salad)
Middle cerebral artery supplies both wernicke and Broca’s area (expressive aphasia)
Tracheoesophageal fistula with oesophageal atresia features
Results from failure of primitive foregut to divide into separate trachea and oesphagus
Symptoms:- shortly after birth excessive secretion choking/cyanonsis during feeds
Marijuana use features
Mild euphoria, inappropriate laughter, increased appetite, slow reaction
Tachycardia and conjunctival injection
Epithelial ovarian cancer features
Most common
Anaplasia of epithelial cells, invasion into the storms and multiple papillary formations with cellular atypia, psammoma bodies
Marker:- high CA-125
Symptoms:- pelvic mass, ascites, decreased appetite, bowel or bladder changes
Acute effects of corticosteroids on WC count
Increase neutrophils 2o neutrophil demargination
Decrease lymphocytes, basophils, eosinophils, monocytes
SE of antidepressant mono therapy in susceptible pts
Risk of inducing mania in pts with family hx of bipolar disorder
Commonest causes of most oropharyngeal carcinomas
HPV
In particular HPV 16-18 cause transformation to malignancy
Tongue, tonsil etc
Medications that can cause constipation
Non dihydropyridine Ca channel blockers ( diltiazem, verapamil)
5HT3 antagonist ( ondansetron, granisetron)
Anticholinergics
Opioids
Major pathogen for resp colonisation in adult pts with CF
Pseudomonas aeruginosa
In children ( Staph aureus)
Follicular lymphoma
Middle aged pts
Painless LN englargement
Waxing and waning course
T14:18 translocation
Overexpression of BCL2 oncogene
Rt sided heart failure 2o hypoxic lung disease
Increased Rt ventricular after load
Low P2
Raised JVP
Lower limb oedema
Reduced pulmonary arterial compliance
Decreased LT SV, preload and PCWP ( LA)
Leptin
Produced in adipocytes
Acts on hypothalamus to inhibit production of neuropeptide Y —> decreased appetite
Ineffective leptin signaling > appetite > BMI
Which enzyme pathways are in the cytosol
Enzymes responsible for glycolysis, fatty acid synthesis and Pentose phosphate pathway
Which enzyme pathways are in the mitochondria
Beta oxidation of fatty acids, the TCA cycle, and carboxyoation of pyruvate ( gluconeogenesis)
Aspergillus
Thin septation fungus with acute 45o bifurcation/ branching
Infectious mononucleosis symptoms with no agglutination horse erythrocytes causative organism
CMV, human herpes 6, HIV and toxoplasmosis can cause -ve monospot infectious mononucleosis
Infectious mononucleosis symptoms:- spleenomegaly, fever, fatigue atypical lymphocytosis
Mono spot test:- agglutination to horse erythrocytes
Pancreas is derived from the
Mesoderm
Mutation of gene coding for protein on the base lateral surface of hepatocytes and enterocytes and interacts with transferrin refers to which disease?
1o haemochromatosis
Mutation in HFE gene
Interacts with transferrin to sense iron stores
Increased risk of HCC
Presentation:- low hepcidin, micronodular cirrhosis, bronze diabetes
Neurofibromatosis 1 features
Single gene AD disorder
Chromosome 17
Presentation:- cafe au lait spots, skinfold freckling, lisch nodules
Old age Changes salivary gland
Acinar atrophy fatty infiltration
Reduced saliva
Dental carries
Sign of being on A2RB and ACE I
Renin will be raised
Diagnosis of bipolar I
In pts with 1 or more episodes of mania
> 1/52 duration of mania
>3 symptoms DIGFAST
Distractibility
Impulsivity
Grandiosity
Flight of ideas
Increased activity
Decreased sleep
Talkativeness
In lactate dehydrogenase deficiency anaerobic conditions depletion of which intracellular substance will inhibit glycolysis
NAD+
In anaerobic conditions pyruvate is converted to lactate via lactate dehydrogenase
Generating NAD from NADH
In lactate dehydrogenase deficiency failure to generate NAD and glycolysis inhibited
Earliest cause of change following a burn
Superficial burn:- blanching erythema :- neutrophils from mast cells
Partial thickness burns :- blisters—-> fluid extravasation in gaps between endothelial cells in venues
Serotonin syndrome features
Altered mental status
Autonomic hyperactivity
Neuromuscular excitation
Presentation:- anxiety, de;ilium, diaphoresis, HTN, tachycardia, vomiting, diarrhoea, hyper reflex is, tremor
Antidote for OD :;- cyprohetadine
Femoral block location and uses
Block near the inguinal ligament
Anasethetises ant thigh, femur and knee
HCV reasons why anibody doesn’t confer immunity
HCV envelope proteins have variations in their antigenic structure
RNA dependent RNA polymerase has no proof reading and has manny errors during replication
E. coli 0157:H7 toxin virulence
Inactivates 60S ribosomal unit
21 hydroxylase deficiency which reaction will be affected
Progesterone —-> 11 deoxycorticosterone
Methimazole MoA
Decreases formation of thyroid hormone via thyroid peroxidase inhibiting coupling of iodotyroisines
CN VI
Abducens innervates lateral recutus muscle which inserts on temporal surf fence of globe
Dysfunctional can lead to double vision
Function to abduct the eye
ST elevation in I and aVL, where is the occlusion?
Lt circumflex
Galactokinase deficiency features
Galactose cannot be broken down to galactose-1-phpsphate
—-> Accumulation of galactitol
Causing cataracts
Southwestern blot
Uses double strand DNA probes to identify DNA binding protein including transcription factors
C diff contact precautions
Handwashing
Gloves and gown
Pt with new HIV pol mutations suggests that
Pt may not be compliant with therapy
Pol gene encodes for HIV enzyme protease, reverse transcriptase and integrase
Methylmalonic acidema
Deficiency in methylmalonyl- CoA mutase
Methylmalonyl CoA—X—> succinylCoA
Presentation:- first 2 weeks of life.
Sleepiness, poor feeding
Vomiting, dehydration
Tachypnoea ( 2o metabolic acidosis)
Hypoglycaemia
Hyperammonaemia
Urine ketones
High proprionic and methylmalonic acid
MoA of glucocorticoids in allergy
Inhibits transcription of inflammatory mediators leading to apoptosis of eosinophils, T cells and monocytes
Hydatiform mole
Commonly 46 XX
Presentation:- v high B HcG
Pelvic pain, vaginal bleeding
U/s :- multiple cystic areas in a central mass
Large oedema toys distorted chorionic villi
Risk factors:- phx, maternal age, prior miscarriage or infertility
Lyme’s disease features
B burgdorferi
Tick bite
Spreading Bulls eye annular eruthematous rash mild pruritis
Fever , myalgia, headache
Eosinophilic meningitis
Common cause helminthic infection ( angiostrongylus)
Eating contaminated shell fish SE Asia
Eosinophils in CSF
Glycine features
Inhibitory neurotransmitter GABA a
> in spine than bran
Allow Cl influx and cause hyperpolarisation
Glutamate in neruonal injury
Release from injured neurons
Hyper activation of NMDA receptors
Depolarisation and Ca overload —-=> death to neighbouring cells
CRACK AMIGOS
CYP450 inhibitors ( increased drug SE)
Cimetidine
Ritonavir
Amiodarone
Ciprofloxacin
Ketoconazole
Acute alcohol
Macrolides
Isoniazid
Grapefruit
Omeprazole
Sulfonamide
Antibodies causing anaemia and haemolysis pathophysiology
Immune mediated
Bind to erythrocytes acting as happens for IgG attachment. Cleared by splenic macrophages —> haemolytic anaemia
Microthrombi haemolytic anaemia
Commonest cause is DIC
Assoc severe infection nor OB complications
Prolonged coag times and thrombocytopenia
Vascular dementia features
Presentation:= prominent executive dysfunction
MRI:- multiple infarcts, micro bleeds , areas of hyper intensity in white matter and gray matter
Adenovirus features
Double stranded DNA
Transmission: direct contact, faeco-oral, resp droplets
Presentation:- outbreaks in crowded shared spaces
Pharyngitis
Conjunctivitis
Fever
Cough
Congestion
Small # get pneumonia
Gastric banding circles the stomach and which other structure
Lesser omentum
Attaches between stomach and liver
Divided into 2 ligaments hepatogastric ligament/ hepatoduodenal ligament
Methotrexate teratoginicity
Folic acid antagonist
Neural tube defect
Brief psychotic disorder
1 or more psychotic symptom lasting >1/7 <1/12
Which cell lines are increased in COPD
Neutrophils
Macrophages
CD8+ cells
Age related cardiovascular changes
Aortic stiffening :- elastin replaced with collagen
Mild concentric LVH
Conduction cell degeneration
Reduced baroreceptor sensitivity
Reduced adrenergic responsiveness
Endurance muscle fibres
Type I red muscle fibres
Use oxidative phosphorylation for energy metabolism
Contain high quantities of mitochondria, lipids and myoglobin
Which cytokines is an important mediation in GCA
IL-6
Correlates with severity of symptoms
Thoracic outlet syndrome
Compression of brachial plexus as it passes through the scalene triangle
Increased risk with extra CXR rib
Presentation:- UL numbness, tingling and weakness with repetitive overhead movements
Ewing sarcoma
Malignant bone Ca
<15 white
Histo:- sheets of small round blue tumours, clear cytoplasm
X-ray:- lytic lessons moth eaten appearance
Mets:- lung
Ankylosing spondylitis
Assoc HLA B27
Presentation:- reduced spinal mobility, back pain
Worse in am better with exercise
X-ray pelvis:- erosions with subchondral sclerosis ( sacroilitis)
Pagers disease of the bone phases
- Osteoclasts/ osteolytic phase:
- Mixed phase
- Osteoblasts/ osteosclerotic phase
Presentation:- raised ALP, bone pain in elderly pt
Biopsy:- mosaic pattern of lamellar bone
Dermatomyositis
Proximal muscle weakness and skin manifestation
Labs:- raised CK and anti Jo-1
Mgx: - initial glucocorticoids
Enthesitis
Inflammation and pain at point of tender insertion
Assoc with ankylosing spondylitis
Psoriatic arthritis
Reactive arthritis
Supraspinatus
Part of the rotator cuff —> most commonly injured
Abductor of the arm
Innervation:- suprascapular nerve
Lunate dislocation complication
Spilled tea cup sign on X-ray
Compresses carpal tunnel ==> median nerve injury
presentation:- weak thumb abduction, flexion and opposition
Cellular Pathogenesis of RA
Anti CCP antibodies specific
Activation of CD4+cells
TH1, Th17
TNF (collagenase) and IL1 (metaloprotease) —> involved in progressive articular destruction by activating osteoclasts
Olecranon bursitis
Localised swelling in olecranon proces
Pain and erythema minimal
2o overuse
Deep brachial artery
Runs along with radial nerves
Midshaft fractures put them at risk
Polymyositis
Symmetric proximal muscle weakness
Assoc with ANA and anti Jo1 ( anti tRNA synthetase)
Labs:- raised CK
Biopsy:- endomysial mononuclear infiltrate, patchy necrosis
Myositis ossificans
Formation of lamellar bone in extra skeletal tissue 2o to trauma
Presentation:- painful, film mobile mass in muscle
Histo:- benign metaplastic bone and proliferation fibroblasts without mitotic atypia
Paget’s disease
Ca, Po4 Normal
ALP raised
Presentation:- Frontal bossing —> headache may impinge on CN VIII
Pathologic fractures
High output HF 2o increased bld flow in pagetic lesions
Excessive and disordered bone formation in elderly
Malignancy would have no skull Mets and would have raised Ca
Vitamin D deficiency in children
Presentation:- exclusive breast feeding, frontal bossing
Hypertrophy of costochondral joints, decreased muscle tone, tibial bowing
Labs:- low 1,25 OH vitamin D. LowPO4, Low/N Ca , high ALP, high PTH, low urine Ca
Histopathology: excess unmineralised osteoid
Osteosarcoma
<20 male
Presentation:- pain and soft tissue swelling
X-ray:- lytic and sclerotic bone lesion
Histopathology:- malignant cells producing neoplasticism osteoid and thin trabeculae of mineralized bone
Scaphoid bone fracture
Anatomical snuff box
On outstretched hand
Risk of a vascular necrosis of scaphoid
McCune Albright syndrome
Mutation in GNAS gene
Constant Gs protein activation
Hormone overproduction
Presentation:- precocious puberty
Irregular cafe au lait macula
++ osteotic lesions
Complications:- thyrotoxicosis, Cushing syndrome, acromegaly
Cells involved in scleroderma
Vascular endothelial cells ( inc endothelin 1)
T lymphocytes (cytokines recruit fibroblast)
Dermal fibroblasts ( production of collagen)
Polymyositis muscle biopsy
Endomysial infiltration with patchy necrosis
Overexpression MHCI and CD8 + T cells
In Paget’s disease what factor is required for osteoclasts differentiation
Osteoclasts in Paget’s disease ( mutlinucleated cell > 100 nuclei)
This differentiation is 2o osteoblasts producing
M-CSF ( macrophages colony stimulating factor)
RANK-L (receptor for activated nuclear factor kappa-B ligand)
What is osteoprotergin
Decoy receptor that reduces binding of RANK=L to RANK —-> decreased differential and survival of osteoclasts. —-> increased bone resorption and increased bone density
Giant cell arteritis visual complication
Ischaemic optic neuropathy 2o ophthalmic artery occlusion
Others:-
Central or branch retinal artery occlusion
Cerebral infarction leading to visual field defect
Joint destruction in RA characteristics
Synovial hyperplasia
Inflammatory infiltrate
Synovial angiogenesis
Joint space replaced by synovial pannus
Hereditary haemochromatosis presentation
Bronze diabetes
Arthritis esp 2nd and 3rd MCP
Chondrocalcinosis (Ca pyrophophosphate dihydrate)
2o hypogonadisim
Hypothyroidism
Restrictive/ dilated cardiomyopathy
Arrhythmias
What type of hypersensitivity are MG and good pastures syndrome
Type II antibody mediated
Cancers assoc with dermatomyositis
Adenocarcinoma
Ovarian
Lung
Pancreas
1o biliary cholangitis assoc conditions
Autoimmune disease
CREST
Sjogren syndrome
Reactive arthritis features
Can’t see, can’t pee, can’t bend the knee
Urethritis
Conjunctivitis
Mono/oligo arthritis
Assoc HLA B27
Sacroilitis
CKD bone disease labs
Impaired conversion to 1,25 OH vitamin D3
Low Ca
High Po4
2o hyperparathyroidism
Eosinophilic Granulomatousis with polyangitis (churg- Strauss) features
Small to med vasculitis
Late onset asthma
Rhinosinusitis
Eosinophilia
Asymmetrical multifocal neuropathy (wrist drop/radial)
Lab:- antibodies against neutrophil myeloperoxidase
P-ANCA
RA joints involved
Hands
Wrist
Elbows
Knees
Cx spine
Complications of sjogren syndrome
Non Hodgkin lymphoma
Corneal damage
Dental caries
Avasular necrosis femoral head
Cause:- sickle cell disease
Embolic disorders
High dose steroids
+++Alcohol abuse
SLE
Femoral neck fracture
Hypertrophic osteoarthropathy features
Abnormal growth of new bones
Presentation:- clubbing, painful arthropathy, periostosis of long bones, joint effusion
Assoc:- pulmonary malignancy, CF, bronchiectasis, cyanosis heart disease
Lesion in somatosensory location and presentation
Location:- posterior to central sulcus
Presentation:- contralateral sensory deficit
Cortical sensory signs ( loss of 2 point discrimination, ability to recognise numbers, ability to perceive multiple stimuli)
MoA of ACE I
Reduce angiotensin II
Efferent arteriole dilation
Etanercept
TNF alpha inhibitor
Soluble protein decoy receptor
Use:- adjunct with methotrexate for RA
Factors that lead to sickling in sickle cell disease
Low O2 levels
Acidosis
Dehydration
O2 unloading ( extracting more O2 from bld)
Decreased 2,3 BPG
Haemolytic uraemic syndrome labs
Decreased HgB, haptoglobin
Decreased Plt
Increase BT
Increased LDH
High indirect bilirubin
Negative Coombs ( haemolysis is mechanical)
When does b hCG increase
Begins with blastocyst implantation and syncitotrophoblast invasion
Focal onset seizure
2o to focal structural abnormality
Being localised seizures can progress to bilateral tonic clonic seizures
Achalasia treatment
Botulinum toxin injected into lower oesphageal sphincter —> block cholinergic —> relaxation
Shigella pathogenic cellular spread
Primary method:- Mucosal invasion and lateral spread
Stroke affecting thalamus characteristics
Sensory loss affecting all modalities in the contralateral face, arm and leg
Proprioception affected
In tact motor strength
Lacunar infarcts
Small vessel occlusion in deep brain structures due to lipohylinosis and microartheroma formation
2o uncontrolled HTN, DM
Appear as cavities <15mm in size in Deep structures of brain filled with clear fluid
Actinic keratosis
Sun exposed skin
Scaly erythematous whitish scale Papules — sand paper texture
> felt than seen
Seborrhoeic keratosis
Elderly
Stuck on - deeply pigmented/ flesh coloured verroucus well circumscribed Papule
Congenital hypothyroidism features
Asymtomatic at birth
Maternal T4 goes away
C/o constipation, lethargy, hypotonia, macroglossia umbilical hernia and large ant fontanelle
Vegan diet can lead to deficiency in
B12, calcium, vitamin D, iron , zinc
Which condition increases risk of Giardia lamblia infection
IgA deficiency
IgA Impairs Gardia adhesion
Synchronization of glycogen breakdown in muscle is due to
Increased intracellular Ca
In live cAMP, glucagon and epinephrine
S saprophyticus
G+ve cocci
Catalase +ve
Coagulase -ve
Novobicin resistant
Causes UTI in sexually active women
Hurler syndrome
Deficiency alpha L iduronidase
Accumulation of dermatan and heparan sulfate
Presentation:- coarse facies, intellectual disability, corneal clouding, hepatosplenomegaly
Death 2o MI <10
Travelers diarrhoea
Caused by eneterotoxigenic E.Coli
Toxin resembles cholera - heat stable/heat labile enterotoxin
++ watery diarrhoea lead. To dehydration
HBV replication sequence
Double stranded DNA—> +RNA template —-> partial double stranded DNA progeny
Aldolase B deficiency
Hereditary fructose intolerance
Starts with introduction of fructose to diet
Presentation:- hypoglycaemia, vomiting
Failure to thrive, jaundice, hepatomegaly
Influenza pandemics is usually due to
Reassortment of RNA segments (major antigenic shift)
Hereditary orotic aciduria
Deficiency:- uridine % monophosphate synthase ( pyrimidine pathway)
Presentation:- developmental delay, megaloblastic anaemia, high urinary orotic acid
No ammonia
Mgx:- uridine supplementation
Horseshoe kidney
Abnormal migration of Rt and Lt metanephric blastema leading to fusion of inferior poles
Presentation:- asymptomatic may increase risk of Kidney stones and UTIs
Hepatic encephalopathy
Increased absorption of nitrogen by the gut
Increased GABA
Impaired glutamate
Predictive values
Change with prevalence
In low disease prevalence NPV increases ( more TN, less FN) and PPV decrease ( less TP, more FP)
In high disease PPV increase and NPV decreases
Pharmacokinetic differences in neonates
Higher total body water
Blood brain barrier immaturity
Decreased CYP450 enzyme activity
Decreased renal bld flow and GFR
Cyclin independent kinase inhibitors SE
MoA:- Prevent phosphorylation/activation of RB and stop G1-S cell cycle progression
SE:- bone marrow suppression
Silencing RNA
Leads to less cell line production
This is due to interference from small interfering RNA and microRNA
This causes a disruption of the RNA translation
Congenital syphilis
Transplacental transmission of the spirochete treponema pallidum
Presentation:- rhinorrhea
Desquamating rash in soles and feet
Hepatomegaly
Lymphadenopathy
Periosteal thickening and metaphyseal erosion of long bones
Where would you cauterize in epistaxis
Ant nasal septum
Kiesselbach plexus —> site to anastomosis of ant ethmoidal, sphenopalatine and sup labial arteries
Alkaptonuria
Deficiency:- homogentisic acid oxidase
Defect:- tyrosin—-X—> fumerate
Presentation:- connective tissue hyperpigmentation
Arthropathy in adults
Urine darkens after several hours
Hyperphenylalaninemia
Deficiency:- phenylalanine hydroxylase
Defect: phenylalanine ——X—> tyrosin
Co-factor:- BH4 tetrahydrobiopterin
Presentation:- microcephaly
Developmental delay
Seizures
Hypopigmentation
Somatomedin C
Insulin like growth factor
Release in response to GH to stimulate target cells growth
ACTH and B endorphin relationship
Beta endorphin is an endogenous opioid bind to receptors Mu, delta, kappa and N/OFQ.
Derived from proopiomelanocortin that is also a precursor for ACTH and MSH ( melanocyte stimulating hormone)
Germinal centers
Are sites in LN where activated B cells proliferate and mature
Gives rise to lymphadenopathy symptoms —> pain and swelling 2o to release of inflammatory cytokines
Virus causing nasopharyngeal carcinoma
EBV
Complication of pressure in Lt renal vein 20 compression by superior mesenteric artery and aorta
Nutcracker effect
Lead to varicocele
Periumbilical venous disetention —> portal HTN
Serum sickness
Immune complex type III hypersensitivity
Forms 5-14/7 after exposure to foreign protein e.g. antitoxin, anti venom, MAB or vaccine
Presentation:- fever, urticarial rash and arthralgia
Resolution 2o immune complexes cleared by mononucelar phagocyte system
Adrenal cortical hyperplasia vs adrenal medullary hyperplasia
Cortical hyperplasia assoc increased ACTH —> stimulates it to release aldosterone, cortisol, DHEA
Medullary hyperplasia increased catecholamine / phaeochromocytoma
Non exertional heat stroke
Hyperthermia
CNS dysfunction:- encephalopathy, syncope
Increased risk with anticholinergic meds that impair sweating e.g amitriptylline scopolamine
Impaired vasodilation —> sympathomimetic e.g amphetamine, cocaine
Limiting cardiac response to heat :—> furosemide, metoprolol
Disruption of hypothalamic thermoregulation —> chlorpromazine, haloperidol
Amitryptilline
Tricyclic antidepressant
MoA”- inhibit 5Ht and NE reuptake
Use: MDD, peripheral neuropathy , neuropathic pain
SE: anticholinergic SE ( dry mouth, eyes, no sweating) convulsions, coma, caridotoxicity
