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 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
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
Listeria
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