Medicine General Flashcards
Differential for Weight Loss
Differential for weight loss:
1. with Good appetite:
- Hyperthyroidism
- Uncontrolled DM
- Malabsoprtion
- Phaechromocytoma
2. with Loss of appetite:
- Malignancy
- Chronic Heart/Lung/ Liver disease
- Chronic Kidney disease
- Gastro-Esophageal reflux with pain
- Major Depression
- Chronic inflammatory conditions
- HIV associated
- Esophageal issues
3. Drugs induced: Levodopa, Metformin, Digoxin, Theophylline, Iron Overload, Biphosphonates, Diuretics (reducing fluid load)
Transient Loss of consciousness
Transient LOC or history causes:
1. Neurological - stroke, TIA, Epilepsy
2. Cardiac:
Obstructive output - AS, HOCM
Electrical - SVT, VTach, VFib, Long QTc
3. Neuro-Cardiogenic - carotid sinus Hypersensivity, Vaso-vagal or other reflexes
4. Metabolic - Hypoglycemia
Explore LOC as - Before - during - after event details.
Acute coronary syndrome criteria
ACS criteria or definition = detection of a rise and/or fall of troponins along with
- symptoms of ischemia: chest pain at rest increased with exertion
- ECG changes or new LBBB
- pathological new Q waves in ECG
- Imaging evidence of new loss of viable myocardium or new RWMA
- autonomic features as nausea, vomiting, sweating, breathlessness etc
Non ischemic chest pain causes
Non ischemic chest pain can be
- Reflux esophagitia or spasm
- Pulmonary embolism
- Aortic dissection
- Hyperventilation
- Pneumothorax, spontaneous
- Pericarditis
- Pleurisy
- Costco-Chondritis
- Early Herpes Zoster
- Peptic ulcers, Cholecystitis, Pancreatitis
- Major Depression
HEART score
History suggestive
ECG changes
Age <45, 45-65, >65
Risk factors - DM, Smoking, HTN, PCI
Troponins rising
STEMI: ECG Leads and arteries involved
Septal - V1V2 leads - LAD artery
Anterior LV - V3V4 - LAD artery
Anteroseptal - V1 to V4 - LAD
Anterolatetal - I, aVL, V3-V6 & Reciprocal in II, III, aVF - LAD/Cx
Inferior LV - STE II, III, aVF & reciprocal in I, aVL - RCA
Posterior LV - STE in V7-V9 & reciprocal in V1-V3 with tall R waves - RCA or Cx
Right ventricle- STE in II, III, aVF, V1, V4R & reciprocal changes I, aVL - RCA
Posterior wall STEMI
Posterior wall MI changes
- STE in V7 to V9 posterior
- reciprocal ST depression in V1V2V3 and tall R waves in V1-V3
Do posterior leads with V1V2V3 depression.
V7 - left posterior axillay line
V8 - left mid scapular line
V9 - left spinal border
Right ventricular MI
ECG in Right ventricular MI
- ST elevation in II, III, aVF, V1 & V4R(Right V4)
- ST depression in I, aVL
RCA lesion implicated
Do right sided ECG V1R to V6R if your find inferior MI
Other causes of ST elevation(non MI)
Non MI causes of ST elevation in ECG
- Pericarditis, global, saddle, PR depression(spodeck sign)
- Myocarditis, widespread, fever, SOB
- Early Repolarization, young men, <2mm, concave up, J notch in terminal QRS
- LVH, ( SV1 + RV6 =35mm), LAD
- LV aneurysm
- Brugada syndrome, STE in V1-V3, concave up
- Hyper and Hypokalemia
- CNS causes -SAH, ischemic stroke, Head trauma, Intracranial tumours
- Prinzmetal angina, transient Coronary spasm causing temporary STelevation
- Cocaine, Amphetamines
- Cardiac trauma
- electrical cardiac injury, Post Defib
Non cardiac causes of high Troponins
Non cardiac causes of high Troponins
= pulmonary embolism
= Aortic dissection
= Acute Heart failure
= peri/myocarditis
= septic shock
= post angioplasty
= Post defibrillation
= Acute arrhythmias
= Renal failure
= Cardiac contusion
GRACE score
Global Registry of Acute Cardiac Events
GRACE score
Predicts mortality % after ACS, uses 8 variables
- Age
- Heart Rate
- Systolic blood pressure
- Serum Creatinine
- ST segment deviation in ECG
- Cardiac arrest at admission
- Elevated Troponins
- Killip class of CHF
Anti platelet agents for ACS
Antiplatelet agents for ACS
Aspirin = 300 mg loading and 100 mg lifelong, blocks cyclooxygenase in platelets irreversibly for life of that cell
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Clopidogrel = inhibits ADP pathway, use when 6month mortality> 1.5%, 300 to 600 mg loading & 75 mg x 1 yr
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Ticagrelor (Brillinta) - superior to plavix, consider when calculated mortality >3%, 180 mg loading and 90 mg BD for 12 months
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Glycoprotein IIb/IIIa inhibitors/antibodies:
1. Eptifibatide(Integrilin)
2. Tirofiban(Aggrastat)
3. Abciximab(ReoPro)
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Fondaparinux if no CAG within 24 hrs otherwise UFH to consider
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ER management of NSTEMI/Unstable angina type of ACS
ER management of Non-STEMI
- Aspirin 300mg loading
- Morphine for pain control
- Oxygen if SpO2 < 94%
- Plavix 300mg if GRACE score predicted 6month mortality >1.5%
- Ticagrelor(Brillinta) if GRACE score predicted mortality >3%
- Fondaparinux to all pts if CAG not expected within 24 HRS
- UFHeparin if CAG within 24 hrs expected
- Nitrates sublingual or IV
- Glycoprotein IIb-IIIa inhibitors such as Eptifibatide/Tirofiban/Abciximab to consider if predicted mortality >3% and CAG expected within 96 Hrs
Absolute contraindications to Thrombolysis in STEMI
Absolute Thrombolysis contraindications
= Hemorrhagic stroke in the past
= unknown origin stroke in past
= CNS Tumor/ Head injury
= major surgery <3 weeks
= Aortic dissection
= Ischemic stroke < 6 months
= Bleeding disorder
= Non compressible puncture as Liver biopsy, Lumbar puncture
Relative contra-indications for Thrombolysis in MI
Relative contra-indications for Thrombolysis:
= oral anticoagulants used
= TIA within 6 months
= Pregnancy or < 1 wk post partum
= HTN > 180-110
= Advanced Liver disease
= Infective endocarditis
= Acute peptic ulcer disease
= refractory CPR
Atrial fibrillation -Types, Treatment
Atrial fibrillation classified as
- initial first episode
- Recurrent 2/more
- Paroxysmal, terminates spontaneously within 7 days
- Persistent, needs treatment
- Permanent, failed treatment or not pursued
AF treatments
1. Rate control - with Bisoprolol, Diltiazem, Digoxin
2. Rhythms control back to sinus -
# Electrical - if persists > 48 hrs or immediate if unstable
# Pharmacological - Amiodarone or Flecainide if no structural Heart disease
Atrial fibrillation Do Not Rate Control if
NICE recommends that all patients with AF should initially be rate controlled unless -
= AF is thought to be reversible
= Heart failure caused by AF
= New onset AF
= Atrial flutter better treated by ablation
= rhythm control thought better
Polymyositis-Dermatomyositis
Polymyositis Features
1. Proximal weakness - difficulty combing hairs, getting up from chair, cannot sit from supine, Difficulty running/climbing
2. Rash - heliotrophic around eyes
3. Malignancy association-Lungs, Breast, Ovary, GI tract, Nasopharynx, Prostate, Blood - search if age>40
4. Respiratory weakness
5. Ophthalmoplegia - think also MG
6. Cardiomyopathy may be
Differential for Proximal myopathy
Differential- proximal muscle weakness
= Polymyositis+Dermatomyositis
= Polymyalgia rheumatica + GCA - elderly with high ESR
= Thyroid - Hypo or Hyper - eye features
= Steroid therapy - cushingoid, striae
= Carcinomatous neuropathy + Lambert-Eaton Myaesthenic syndrome
= Diabetic amyotrophy, distal neuropathy, High sugars, Wt loss
= Familial periodic paralysis - K
= Muscular dystrophies - DMD, BMD
= Dystrophia myotonica - Frontal balding, Foot drop, hypogonadism, myotonia,
= Alcoholism
= Osteomalacia
= Hyper-parathyroidism
= Insulinoma - weight gain, Hypoglycemia episodes
CHA2DS2 VASc Score
CHA2DS2 VASc Score - for stroke risk in Atrial fibrillation patients, considers:
- Age, 65-74=01, > 75=02
- Sex-female 1 pt male 0
- CHF history or not = 01
- Hypertensive or not = 01
- Diabetes or not =01
- TIA/ Stroke/ Thromboembolism= 02
- Vascular disease history = 01
Score > 02 - high risk, offer anticoagulation
Warfarin - start minimum 3 weeks prior to electrical cardioversion & continue minimum 4 weeks after it
AF recurrence risk
Recurrence risk for atrial fibrillation is high in following conditions:
- AF present more than 12 months
- past recurrence history
- Mitral disease
- LV dysfunction, LA enlargement
- score suggestive, high scores
HAS-BLED score
HAS-BLED score - estimates risk of major bleeding in a case of atrial fibrillation being anticoagulated or to be started on, considers:
= HTN >160 mmHg
= Renal CKD
= Liver disease TB >twice, AST/ALT >3ce
= Stroke history
= Prior major bleed or predisposition
= Labile INR
= Age > 65 yrs elderly
= drugs On NSAIDs, Antiplatelets
= Alcohol or drug use > 14 Units per week
Congenital Syphilis - Neonates
Congenital Syphilis: = Neonatal features:
= Rhinitis, runny nose
= Muco-cutaneous rash
= Osteochondritis
= Dactylitis - sausage fingers
= Hepato-spleenomegaly
= Lymphadenopathy
= Anemia, Low Platelets, Jaundice
= Nephrotic syndrome
Congenital Syphilis - adults
Adult features of congenital syphilis
= Saddle nose
= Bull Dog jaw (prominent mandible)
= Frontal Bossing
= Rhagades at angle of mouth(angular cheilitis)
= Hutchinson’s Teeth - widely spaced teeth, peg shaped upper incisors with crescentic notch at cutting edge
= Moon molars, lower ones
= Sabre Tibia
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Late Features also may be seen as:
= 8th cranial palsy with deafness
= Clutton’s Joints-painless knee effusion
= Interstitial keratitis
= Choroidoretinitis with salt & pepper retina on fundoscopy + Optic Atropy
= Palate and Nasal septum perforations
= Collapse of nasal cartilage
Asthma Severity Markers
Moderate - severe - Life threatening
Moderate asthma:
= PEF >50-75% of best or predicted
= No features of severe asthma
= increasing symptoms
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Severe Asthma:
= Inability to complete sentences in one breath
= PEF 33-50% of best or predicted (normal 450-550 L/min in adult males and 320-470 L/min in adult females)
= Resp Rate > 25
= Heart rate > 110
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Life threatening Asthma:
= Silent chest
= PEF < 33%
= Cyanosis
= Feeble respiratory effort
= Arrhythmia, Hypotension
= Exhaustion, altered sensorium
= sPo2 < 92%
= PaO2 < 8 kpa
= Normal PaCO2 (4.6-6.0 kpa) should be low, Respiratory acidosis , needs NIV
Asthma Treatment
Treatment for severe asthma:
= Oxygen supplementation
= Salbutamol/Terbutaline puff: 4 puff stat and 2 puffs every 2 min - total 10
= Nebulization: Ventolin/Terbut 5/10 mg
= Nebulization: Ipratropium 500-4 hrly
= Prednisolone 50 mg OD x 5 days
= MgSO4 2 Grams iv over 20 min
= Aminophylline 5 mg/kg loading dose 20 min and infusion@ 0.5 mg/kg/Hr
FEV1/FVC Ratio
FEV1 = Forced expiratory volume in 1second
FVC = Forced vital Capacity = the amount of air that can be forcibly exhaled from your lungs after taking the deepest breath possible.
FEV1/FVC ratio is 0.8 - normally
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Obstructive respiratory = Ratio < 0.7
Restrictive Respiratory = Ratio > 0.8
Spirometry definitions
The FEV1/FVC ratio (Tiffeneau-Pinelli index) is used in the diagnosis of obstructive & restrictive lung disease = proportion of a person’s vital capacity that they are able to expire in the first second of forced expiration to the full, forced vital capacity.
ERV: Expiratory reserve volume: the maximal volume of air that can be exhaled after normal end-expiratory position
FEFmax: The maximum instantaneous flow achieved during a FVC maneuver
FEFx: Forced expiratory flow related to some portion of the FVC curve; modifiers refer to amount of FVC already exhaled
IC: Inspiratory capacity: the sum of IRV and TV
PEF: Peak expiratory flow: The highest forced expiratory flow measured with a peak flow meter
TLC: Total lung capacity: the volume in the lungs at maximal inflation, the sum of VC and RV
VC: Vital capacity: the volume of air breathed out after the deepest inhalation
NIV Inclusion criteria
NIV Inclusion criteria:
= Alert, co-operative patient
= able to protect airway
= Recovery to quality of life acceptable
= Patient wishes
= Endotracheal intubation considered inappropriate for some reason
NIV Exclusion Criteria
NIV Exclusion Criteria
= Life threatening hypoxemia
= Severe comorbids
= confusion-agitation-cognitive impair
= Facial burns-trauma-recent surgery
= Fixed upper airway obstruction
= Undrained pneumothorax
= Upper GIT surgery - gastrectomy
= Inability to protect airway
= copious respiratory secretions
= Patient moribund
= Bowel Obstruction
= Hemodynamically unstable, inotropes
CPAP-BiPAP indications
CPAP Indications
= Hypoxemic respiratory failure
= Acute hypoxemic pulmonary edema
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BiPAP indications:
= Hypercapneic resp failure: COPD
= Acute Hypercapneic resp failure in cases of: Chest wall deformity, NMD, decompensated OSA,
= Cardiogenic pulmonary edema refractory to CPAP
= Pts in whom intubation inappropriate
= Type I RF resistant to Oxygen alone
= Weaning from mechanical ventilation
BiPAP criteria in COPD
BiPAP - when to start in COPD
= PH between 7.25 to 7.35
= Pco2 > 6 KPA
= Maximal medical therapy failure (Nebs, Oxygen, Prednisolone, Atrovent, Antibiotics etc)
NIV Initial settings
NIV initial settings:
CPAP - start 5 cmH2O - max up-to 15
Oxygen - to maintain sPo2 > 88-92%
PH Target > 7.35
BiPAP:
= IPAP of 10, increased by 2 up to 20
= EPAP of 3-5 cm H2O
Well’s score for pre-test PE probability
Well’s score for PE probability
= Clinical DVT likely = 03 pts
= Alternate diagnosis less likely = 03
= Heart Rate > 100 =1.5 pts
= Immobilization/Surgery <4 wks, 1.5
= History of DVT or PE = 1.5
= Haemoptysis = 1
= Malignancy: ActiveRx/Within last 6 months/ on Palliative care = 1 pt
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Score > 6 = High probability
Score < 2 = Low PE probability, 1.6%
Massive PE: Features-Rx-ECG
Massive PE points
- suspect clinically alone if collapse, tachycardic, unexplained Hypoxia, Dilated RA on bedside ECHO, Neck veins distended, Hypotension, ECG
- Thrombolysis immediate if unstable on clinical grounds alone
- Alteplase: 100mg if stable, 50 if not
- Give UFH after 3 Hrs of thrombolysis
ECG changes - RAD, RBBB, S1Q3T3, Sinus Tachycardia alone, Inferior MI, etc
Pneumonia Antibiotics
CURB-65 Score 0-1: 1/2/3
1. Amoxycillin 500 mg TID or
2. Doxycycline 200 mg stat -100 BD or
3. Clarithrymycin 500 mg BD
(no dual antibiotics here)
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CURB-65 Score > 2 = Dual antibiotics
Amoxycillin + Clarithromycin/ Doxycycline/ Levofloxacin 500 mg OD/ Moxifloxacin 400 mg OD
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CURB-65 Score > 3 = Dual antibiotics
1. Augmentin 1.2 Gram TID + Klacid iv or
2. Benzyl Penicillin 1.2 Grams + either of those = Levoflox/ Ciprofloxacin/ Cefotaxim/ Ceftriaxone/ Klacid
HAS-BLED score
Risk of bleeding before starting anticoagulant
HAS-BLED is an acronym for Hypertension,
Abnormal liver/renal function,
Stroke history,
Bleeding predisposition,
Labile INR,
Elderly,
Drug/alcohol usage.
Spontaneous Pneumothorax
small = > 2 cm at Hilum
Large = > 2 cm at hilum
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If secondary (smoker, > 50yr old) = ICD
if primary (young with no co-mobids) = Aspirate observe, discharge
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Aspirate up to 2500 ml air with a syringe connected to 14/16 Gz cannula in 2nd ICS just above third rib with a 3 way cock other side connected to IV set dipped into saline bottle. Aspirate and push into under water side tube.
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Repeat CXR in 2-4 weeks
no AIR-TRAVEL until after 1 week of full resolution in CXR and clinically
no DIVING forever
Haemoptysis: Pulmonary causes
= Tracheobronchitis
= Chronic bronchitis
= Pneumonia
= Tuberculosis
= Malignancy, Ca Lung, Ca bronchus
= Pulmonary AV malformations
= Pulmonary sequestration
= Pulmonary infarction
= Aspergilloma
= Traumatic
Haemoptysis: Pulmonary causes
called Massive > 400 ml over 3 hrs or > 600 ml in 24 Hrs
= Tracheobronchitis
= Chronic bronchitis
= Pneumonia
= Tuberculosis
= Malignancy, Ca Lung, Ca bronchus
= Pulmonary AV malfromations
= Pulmonary sequestration
= Pulmonary infarction
= Aspergilloma
= Traumatic
Haemoptysis: Cardiac causes
called Massive > 400 ml over 3 hrs or > 600 ml in 24 Hrs
= Pulmonary embolism
= LV failure
= Mitral stenosis
= Pulmonary arterial Hypertension
= Aorto-bronchial fistula
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Vasculitic causes:
= Wegners granulomatosis
= Goodpasture syndrome
= SLE
Acute prostatitis
Symptoms of acute prostatitis include severe pain in or around the penis, testicles, or anus; lower abdomen or lower back pain; dysuria; urinary frequency (particularly at night); urgency; problems related to “stop-start” urinating, and the presence of blood in the urine. Patients also report feeling unwell (aches, pains, and possibly fever) and experience lower back pain and pain on ejaculation.
Symptoms requiring urgent medical attention include being unable to urinate, which leads to a build-up of urine in the bladder (acute urinary retention)
Fosfomycin is only effective for treating lower UTIs, not upper UTIs.
Urine Specific Gravity, pH
This indicates the amount of solute dissolved in the urine.
Causes of low specific gravity include conditions that result in the production of dilute urine (e.g., diabetes insipidus). Causes of raised specific gravity may include dehydration, glycosuria, and proteinuria (e.g., nephrotic syndrome).
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pH level indicates the acidity of urine.
The normal pH range is 4.5–8.Low urinary pH may be caused by starvation, diabetic ketoacidosis, and other conditions that cause metabolic acidosis (e.g., sepsis).Causes of raised urinary pH may include a urinary tract infection, conditions that cause metabolic alkalosis (e.g., vomiting) and medications (e.g., diuretics).
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Nitrites are a breakdown product by gram-negative organisms such as E. coli. The presence of nitrites may suggest a urinary tract infection.
Asymptomatic Bacteriuria
Antibiotic treatment for asymptomatic bacteriuria is not recommended for the following population groups:
= Women older than 65 years (ASB occurs in 15–20% of women between 65–70 years old)
= Pre-menopausal and non-pregnant women
= Diabetic women
= Older persons in the community (no correlation can be found between treatment and an improved outcome in older persons)
= Elderly institutionalized patients
= Persons with a spinal cord injury
= Catheterized patients while the catheter remains intact
Lower UTI Rx recommendations
Lower UTI Rx:
Non-pregnant females (16 years and older): = Acute and uncomplicated lower UTIs may resolve without antibiotic treatment. A backup prescription can be given in the event that the symptoms worsen or do not improve within 48 hours.
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Males (16 years and older), pregnant females (12 years and older), and children (3 months–16 years old):
= An immediate prescription is recommended. An MSU should be obtained and sent to the lab for culture and susceptibility before treatment. In children under 16, consider the appropriate guidelines for diagnosis and management.
Recurrent UTI Rx
Children at high risk for serious illness, e.g., cancer:
Seek specialist advice
Non-pregnant females:
If behavioral and personal hygiene measures were ineffective, the following could be considered:
= a single dose of antibacterial treatment
= a trial of daily antibacterial treatment if a single dose treatment was inadequate.
Males (16 years and older), pregnant females, and children under 16 years:
= If behavioral and personal hygiene measures were ineffective, a trial of daily antibacterial prophylaxis could be considered.
UTI - Non Antibiotic Treatments
These options include vaginal estrogen, immunotherapy, D-mannose (a monosaccharide in many plants and fungi, including cranberries), and methenamine.
Felty’s syndrome
Spleenomegaly + Rheumatoid arthritis + Neutropenia
Other features:
= Lymphadenopathy
= Skin pigmentation
= Vasculitic Leg ulceration
= Keratoconjunctivitis sicca
= thrombocytopenia
= ANA and RA factor both positive
Nephrotic syndrome
= Proteinuria > 3.5 Grams/1.75 m2 BSA/24 Hrs +
= Hypoalbuminemia +
= edema + Hypercholesterolemia
Causes of nephrotic syndrome are: (MMM-FF)
1. Minimal change disease in children
2. Focal, segmental Glomeruloscleritis
3. Membranous Glomerulonephritis
4. Mesangio-capillary glomerulonephritis
5. Fibrillary glomerulonephritis
Minimal change disease
(Commonest cause of Pediatric nephrotic syndrome)
- Primary (Idiopathic) MCD: with atopy(HLA B-12) or without atopy
- Secondary MCD:
= Lymphoma
= cancers (Renal, Lungs, Pancreas)
= IgA nephropathy
= Diabetes mellitus
= AIDS
IgG to Transferrin clearance ratio is < 0.15 in minimal change disease
Focal & Segmental Glomerulo-sclerosis
(Cause of nephrotic syndrome)
- Primary, idiopathic, superimposed on MCD
- Secondary:
= HIV infection
= Drugs: Heroin abuse, NSAIDs, analgesic abuse
= Reduced renal mass: cortical necrosis, renal dysplasia
= Normal renal mass: DM, HTN, Alport syndrome, Sickling, Cystinosis, Sarcoidosis
Membranous Glomerulonephritis
(cause of adult Nephrotic syndrome)
- Primary, idiopathic
- Secondary:
= Infections: Hepatitis B/C, Malaria, Schistosomiasis
= Multisystem: SLE, Mixed CTD, Dermatomyositis, Sjogren’s
= cancers: Lung, Colon, Stomach, Breast, Lymphoma
= Drugs: Gold, Mercury, Penicillamine
= Familial: sickle cell disease
= Miscellaneous: de novo in renal allografts, Bullous pemphigoid, Franconi syndrome
Mesangio-capillary Glomerulonephritis
A cause of nephrotic syndrome
- Primary, idiopathic
= Type 1. Subendothelial deposits
= Type 2. Dense deposit disease - Secondary:
= SLE
= Cryoglobulinemia
= Scleroderma
= Light and heavy chain disease
Fibrillary Glomerulonephritis
Fibrillary Gn can be due to:
= Amyloidosis
= Multiple myeloma
= Cryoglobulinemia
= Lupus nephritis
Carcinoid syndrome
Excess serotonin(5HT), bradykinin, histamine, tachykinin, prostaglandins from tumors of enterochromaffin cells
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Tumor sites: appendix, stomach, duodenum, bile ducts, ileum, gonads, pancreas, lungs etc
High urine HIAA (5-Hydroxyindoleacetic Acid)for diagnosis
Do CT, MRI, PET scan
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Face, upper chest flushing
Headache after flushing
Bronchospasm wheeze
Diarrhoea: 2-30 episodes per day
Tachycardia with Hypotension
Weight loss, cachexia, Tummy cramp
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Triggers for flushing: alcohol, food, stress, Liver palpation, or after administering pentagastrin, catecholamines or reserpine.
Ectopic Hormones associated with Carcinoid syndrome
Cushing’s syndrome - ectopic ACTH from bronchial carcinoid
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Dilutional Hyponatremia due to ADH from bronchial carcinoid
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Hypoglycemia due to insulin from pancreatic carcinoid
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Acromegaly due to ectopic Growth Hormone releasing hormone, GHRH from foregut carcinoid
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Gynecomastia due to excess HCG from gastric carcinoid
Carcinoid syndrome treatment options
Tumor debulking surgery
Somatostatin analogues
Cyproheptidine
Leukocyte interferon
Chemotherapy with Cisplatin, Etopocide, Doxorubicin, Streptozocin
Multiple Endocrine Neoplasia 1
MEN1
MEN 1 is an autosomal dominant disorder characterized by the occurrence of multiple tumors, particularly in the pancreatic islets, parathyroid and pituitary glands, and neuroendocrine tumors.
The MEN 1 gene is located on band 11q13 and likely functions as a tumor-suppressor gene. In a study of 46 sporadically occurring tumors, 78% had LOH at this site, with almost the entire allele missing in 5 patients. In the remaining cases, genetic heterozygosity had a discontinuous pattern. Some have postulated that sporadically occurring carcinoid tumors evolve after inactivation of a tumor-suppressor gene on chromosome 11 as well as genetic mutations that affect DNA-mismatch repair.
Lab tests for Carcinoid tumours
Urinary 5-HIAA levels increased but may not help in detecting tumors at an early stage of development when they are potentially curable with resection. measurement of other peptides (eg, SP, neuropeptide K, chromogranin) may be necessary for diagnosis and follow-up.
Fasting plasma 5-HIAA assay is more stable than whole-blood serotonin assay and is more convenient than 24-hour urine collection.
In one study, CDX2 was highly indicative of GI carcinoid tumor, whereas
TTF-1 had high specificity for pulmonary tumors.
One (17%) of 6 gastric carcinoids stained with CDX2, whereas 8 (53%) of 15 pulmonary carcinoids stained with TTF-1. None of the GI tumors stained with TTF-1
Primary Biliary Cirrhosis, Signs
Autoimmune,
Anti-Mitochondrial Antibody +
HLA-DR8, C4B2
Other : SMA, RAFactor, Anti-Thyroid AB
= Pruritus with scratches, excoriations
= Hepatomegaly, may be massive
= Icterus, Jaundice
= Usually middle aged female
= Xanthelasma, around eyes
= Spleenomegaly may be
= Xanthomata over joints, skin folds, trauma lines
= Malabsorption, Osteomalacia,
= Coagulopathy
Primary Biliary Cirrhosis,
Signs, Labs, Rx
Clinical: Icterus, Pruritus, middle age female, Xanthelasma, Hepatomegaly, ? Spleen palpable
Signs of Cirrhosis if late - ascites, asterixis, Encephalopathy
Labs:
Antimitochondrial antibody (>95%)
RA Factors, SMA +, Anti-Thyroid +
Liver Enzymes: Raised ALP, Bilirubin
Liver Biopsy
Rx - Oral Urso-Deoxy-cholic acid
Low Fat Diet + Statins
Fat Soluble vitamins(ADEK) to give
Rx of Osteomalacia
Pruritus Rx: UDC, Cholestyramine, Barbiturates, Rifampicin, Naloxone, Propofol, or =
Norethandrolone in resistant cases but increased jaundice (sold under the brand names Nilevar and Pronabol among others, is an androgen and anabolic steroid medication which has been used to promote muscle growth and to treat severe burns, physical trauma, and aplastic anemia but has mostly been discontinued. )
PBC-Associations (Auto-immunes)
= Sjogren’s syndrome
= Systemic sclerosis
= CREST syndrome
= Rheumatoid arthritis
= Hashimoto thyroiditis
= Renal tubular acidosis
= Coeliac disease
= Dermatomyositis
= Skin diseases- Discoid LE, Pemphigoid, Lichen planus
Xanthelasma
Xanthelasma are yellow growths on or near the eyelids. They can be flat or slightly raised. They form when deposits of cholesterol (lipid or fat) build up under the skin. While xanthelasma themselves are not harmful, they can be a sign of heart disease, PBC.
Xanthelasma palpebrum is the most common cutaneous xanthoma, characterized by yellowish plaques over eyelids – most commonly, over the inner canthus of the upper lid. It is triggered by hyperlipidemia, thyroid dysfunction, and diabetes mellitus.
Haemochromatosis,
Genetic mutation
Idiopathic
Secondary due to transfusions
Excessive iron intake
Autosomal recessive, HLA-A3
Chromosome 6, short-arm, C282Y
Cysteine is replaced by Tyrosine@282
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Iron Deposition in body, male any age, female usually after menopause
- Slate Grey skin
- Arthropathy, PsuedoGout, 2/3 MTP
- Hepatomegaly, spleenomegaly
- Decreased Hypothalamic-Pituitary axis causing Testicular atrophy, Addisons disease, Weight loss, Postural Hypotension,
- Diabetes mellitus with thin body and normal insulin levels
- Cardiomyopathy, CHF
- Cirrhosis: Palmar erythema, Jaundice, Ascites, Spider naevi, Pruritus, Coagulopathy, Varices with bleeding
- Hypothyroidism, Hypo-PTH
Rx of Haemochromatosis
- Weekly phlebotomy untill Hb < 11, Ferritin in normal levels (Takes about 2-3 years - then maintainance phlebotomy every 3 months
Progression to cirrhosis can be halted if this started in pre-cirrhotic state hence FAMILY screening is important. - Desferrioxamine if phlebotomy not possible regularly as in anemia
- ## Ascorbic acid increases Iron excretion
ALD and Hemochromatosis
Alcoholic Liver disease might have high stainable iron levels and more iron on Liver Biopsy.
Here it is important to check HFE mutation as venesection will stop progression to cirrhosis.
Hemolytic anemias
(Jaundice + Anemia + Splenomegaly)
Check - Hb, LDH, Retics, Film
- Hereditary Hemolytics:
= Sickle cell anemia
= Thalassemia
= Hereditary spherocytosis
= Hereditary elliptocytosis - Acquired Hemolytics:
= Acquired Autoimmune HA
= Primary Hemolytic anemia - Secondary Hemolytics:
= Lymphoproliferative disorders
= SLE
= Non-Lymphoid cancers: Ovarian
= Drugs: - MethylDopa, Mefenamic Acid
= Infections: Brucellosis, Infectious mononucleosis
= Chronic inflammations: UC
Conditions with triad of:
Jaundice + Splenomegaly + Anemia
= Hemolytic anemias: Hereditary, Acquired, Secondary
= Infective endocarditis(look for peripheral stigmata)
= SLE (multi-organ signs, malar rash)
= Pernicious anemia (B12 deficiency, SACD, neuroligical signs)
= Infectious mononucleosis (URTI, Bull neck)
Hereditary Spherocytosis
Autosomal dominant, family history
Jaundice, Anemia, Splenomegaly
Gallstones, colics
Leg ulcers, skin ulcers
Low MCV, High MCHC
Growth delays, Pseudogout
Osmotic fragility test
Spherical RBCs on smear
Low spectrin content in RBC
negative direct antiglobulin test (DAT) and an elevated reticulocyte count.
Autosomal dominant
Autosomal means the gene is located on any chromosome except the X or Y chromosomes (sex chromosomes). Genes, like chromosomes, usually come in pairs. Dominant means that only one copy of the responsible gene (causal gene) must have a disease-causing change (pathogenic variant) in order for a person to have the disease. Mutation is an older term that is still sometimes used to mean pathogenic variant.
In some cases, a person inherits the pathogenic variant from a parent who has the genetic disease. In other cases, the disease occurs because of a new pathogenic variant (de novo) in the causal gene and there is no family history of the disease.
Each child of an individual with an autosomal dominant disease has a 50% (1 in 2) chance of inheriting the variant and the disease. Typically, children who inherit a dominant variant will have the disease, but they may be more or less severely impacted than their parent. Sometimes a person may have a pathogenic variant for an autosomal dominant disease and show no signs or symptoms of the disease.
Generalized Lymphadenopathy
commonest causes: NHL and Hodgkins
Other Causes:
= Infectious mononucleosis, (URTI)
= Tuberculosis, contact history
= Brucellosis ? farm worker
= Toxoplasmosis, (Glandular fever)
= Malignancies
= Sarcoidosis
= Thyrotoxicosis (signs, symptoms)
= Secondary syphillis
= HIV related progressive generalised
Single palpable Kidney
Bimanually ballotable, can get above, resonant percussion on it,
= Signs of CKD, ANEMIA, AVF,
= ADPKD with single palpable
= Renal cell carcinoma
= Hydronephrosis
= Hyeprtrophy of single functioning one
Renal cell Carcinoma, Features
2% of adult malignancies
Smoking is risk
Spreads to aortic, para-aortic nodes
Mets to : Lungs, Liver Skin, bone, Brain
Hematuria + Pain + Mass in abdomen
Malignancy Signs: Wt Loss, Anemia, Lymphadenopathy, Poor appetite, Fever, Polycythemia as tumor produces E-poetin.
Polycythemia rubra vera
V617F MUTATION in JAK-2 gene
= Facial plethora
= Cyanosis of mucous membranes
= Cyanosis of Hands, feet, Face
= Bruises, spontaneous
= Pruritus related scratch marks
= Fundus: grossly dilated retinal veins
= congested conjunctival vessels
= Splenomegaly
= High blood pressure
——————————
Labs:
*Raised = RBC, Hb, Platelets, Hct
*Low MCV with iron deficiency as exhausted stores (Low MCV + High Hb)
*
Secondary Polycythemia, causes
= Habitual smoking, COPD
= High altitude living
= E-poetin producing RCC, Adrenal, HCC, Ovarian, cerebellar Hemangioblastoma, Phaeochromocytoma
= Chronic Rt to Lt shunt
= Chronic Hypoxemia, Pickwickian syn
= Congenital low 2, 3-DPG
= Cobalt poisoning
= Chronic CO poisoning
=E-poetin production by renal cysts, Hydronephrotic kidneys
Crohn’s Disease,
Inflammatory Bowel Disease
= Peri anal fissures, fistulae, abscesses
= chronic lip cracks and swelling due to granulomatous inflammation.
= Chronic diarrhoea
= Multiple laparotomy scars due to recurrent need for surgeries
= RIF mass
= Oral aphthous ulcers
= Fever, Clubbing, Arthritis (including sacro-ileitis)
= Erythema nodosum
= Pyoderma gangrenosum
= Iritis, Red eyes
= Malabsorptions, anemia
= Ankle dema, Hypoproteinemia
= Angular stomatitis, recurrent
———————————
Rx Options:
= Immunosuppression, Azathioprine
= Amionsalicylates, Sulfasalazine, Mesalazine
= Corticosteroids
= Anti TNF ALFA antibodies as Infliximab, Adalimumab,
Anal fistulae, causes
= Crohns disease, UC (IBD’s)
= Simple fistula after abscess
= Tuberculosis
= Ca Rectum
= Trauma
= Radiation therapy
= Lymphogranuloma venerum
Crohn’s disease versus UC
CD can affect any part of the GI tract, but most commonly involves both the large and small intestines. Although CD is more severe than UC, the global prevalence is much lower,
——————————-
Microscopic colitis
Microscopic colitis is a chronic inflammatory bowel disease (IBD) in which abnormal reactions of the immune system cause inflammation of the inner lining of your colon.
chronic diarrhea.
———————-
RIF masses
- Crohn’s colitis
- Caecal carcinoma
- Amoebic abscess (travel abroad)
- Lymphoma
- Appendicular abscess
- Ovarian mass
- Ileal Carcinoid
- Transplanted kidney
- Faecal matter in Caecum
Portal Hypertension
Portal hypertension is a term used to describe elevated pressures in the portal venous system (a major vein that leads to the liver). Portal hypertension may be caused by intrinsic liver disease, obstruction, or structural changes that result in increased portal venous flow or increased hepatic resistance. Cirrhosis of liver is the most common cause.
Cirrhosis of liver, Signs
Effects of portal hypertension:
= Ascites
= icterus
= Spider naevi
= Dilated veins over abdomen (caput medusae)
= Altered sensorium
= Leuconychia, white nails
= peripheral edema
= Virchows node(also called Troisier’s sign) left supraclavicular in malignancy causing ascites
Causes of Ascites
Cirrhosis of liver
Congestive cardiac failure
TB peritonitis
Malabsorption low albumin
Nephrotic syndrome
Constrictive pericarditis
Budd-Chairi syndrome
Myxaedema
Meig’s syndrome
Pancreatic ascites (pancreatitis)
Chylous ascites
Malignancy: Gastric, Ovarian, Liver, Peritoneal mesothelioma or mets
SAAG> 25 Exudative ascites
SAAG < 25 - Transudate
Budd chairi Syndrome
Budd-Chiari syndrome (BCS) is an uncommon disorder characterized by obstruction of hepatic venous outflow. The obstruction may be thrombotic or non-thrombotic anywhere along the venous course from the hepatic venules to junction of the inferior vena cava (IVC) to the right atrium.
= tender hepatomegaly + ascites + Icterus without other CLD signs
Can be due to:
= Polycythemia rubra Vera
= Ulcerative colitis
= Tumor infiltration
= Severe dehydration, DKA, HHS
Spleenomegaly
(Without hepatomegaly)
Huge spleen (more than 4 cm)
= Myeloproliferative disorders such as CML, PCVera, myelofibrosis, essential thrombocythemia
= Chronic Malaria
= Kala Azar
———————-
Moderate spleenomegaly, 2-4 cm
= Myeloproliferative disorders
= Lymphoproliferative disorders such as CLL, Lymphoma, Myelomatosis, Multiple myeloma, Hairy cell leukaemia, ALL, Waldenstroms macroglobulinemia also may have lymphadenopathy +Hepatomegaly)
=Cirrhosis of Liver
——————————
Mild spleenomegaly, upto 2cm
= Myeloproliferative disorders
= Lymphoproliferative disorders
= All causes of Portal Hypertension
=Infections as: Glandular fever, viral Hepatisis, SABE, Malaria
Spleenomegaly,
Uncommon causes
Brucellosis, Typhoid, Trypanosomiasis, Echinocochosis, Disseminated TB,
Sarcoidosis
Gaucher’s disease (Lipid issue)
Haemolytic anemias
Idiopathic thrombocytopenic purpura
Paroxysmal nocturnal Hemoglobinuria
Fealty’s syndrome in RA
Bunty’s syndrome
Amyloidosis
SLE, chronic IDA
Thyrotoxicosis
Banti’s syndrome
Chronic congestive spleenomegaly with pancytopenia, portal Hypertension and GI bleeding.
Hepatomegaly,
Causes
Common causes of Hepatomegaly
= Cirrhosis, usually alcoholic
= Congestive cardiac failure
= secondaries in Liver
———————————-
Other causes:
= Infections: Weil’s disease(Leptospirosis), Glandular fever, viral Hepatitis A,B,E
= Hepatocellular malignancy
= Hepatic adenoma with OC pills
= Lymphoproliferative disorders
= Primary Biliary Cirrhosis
= Macro-nodular cirrhosis
= Haemochromatosis
= Hepatic steatosis
= Sarcoidosis
= Amyloidosis
= Hydatid cysts
= Amoebic Liver abscess
= Budd Chairi syndrome
= Emphysema
Hard Knobbly Hepatomegaly
Malignancy, primary or secondary
Poly cystic liver with ? ADPKD
Macro-nodular cirrhosis
Hydatid cysts
Syphillic gummas
Hepatosplenomegaly
Together
With signs of CLD:
= Cirrhosis with portal HTN
= Chronic Autoimmune
———————————-
With lymphadenopathy:
= Lymphoma (Hodgkin, NHL)
= Chronic lymphocytic leukaemia
———————————-
Without both above: anemic
= Myeloproliferative disorders
= Lymphoproliferative disorders
= Cirrhosis with portal HTN sometimes
——————
Other causes:
= Malaria, kala azar, TB, Schistosomiasis, Brucellosis, Leptospirosis, Toxoplasmosis, CMV,
= viral hepatitis
= pernicious & megaloblastic anemia
= Storage disorders: Gaucher’s
= Amyloidosis due to chronic diseases
= Budd chairi syndrome
= Infantile polycystic disease
Amyloidosis
Primary,
Myeloma associated
Secondary: to chronic illnesses
= rheumatoid arthritis
= TB, Leprosy
= chronic sepsis
= Crohn’s, UC
= Ankylosing spondylitis
= Paraplegia +bedsores +Recurrent UTI
= Malignant lymphoma
Amyloidosis Can cause:
- nephrotic syndrome(proteinuria)
- Hypoadrenalism (postural Hypotension)
- GI tract issues (do rectal biopsy)
Chronic Liver disease, signs
Hand signs of CLD:
Leuconychia,
Dupuytren’s contracture,
Flapping hand tremors,
wasting of hands, Pallor, Icterus, Clubbing
Spider naevi on dorsum of hand
Koilonychia, Paronychia, tendon xanthomata
—————————-
Other signs of CLD:
Body spider naevi
Icterus and pallor at eyes
Caput medusae with blood flow away from umbilicus
Hepatomegaly, tense distended abdomen (ascites), everted umbilicus
Wasted extremities
Signs of coagulopathy - bruises, ecchymosis
Scratch marks over body due to pruritus
Splenomegaly
Gynecomastia, poor body hairs
Small atrophic testicles
Ankle edema due to low albumin
Causes of Chronic Liver Disease
= Alcoholic liver disease
= Viral hepatitis
= Autoimmune hepatitis, SMA+
= Primary Biliary cirrhosis
= Haemochromatosis
= non alcoholic fatty liver disease
= cryptogenic
= cardiac failure, constrictive pericarditis
= Budd Chairi syndrome
= Biliary cholestasis
= Wilson’s disease: KF rings, párkinsonian features,
= alfa 1 antitrypsin deficiency ( also has COPD)
= Toxic causes: Methotrexate, Carbon tetrachloride, Methyl dopa, INH, Amiodarone, Aspirin, Phenytoin, Propyl thiouracil, Sulfonamides
= Metabolic: Galactosemia, Tyrosinemia, Type 4 Glycogenolysis
Bilaterally enlarged kidneys, causes
= AD PKD
= Bilateral Hydronephrosis
= Amyloidosis
= Tuberous sclerosis
= Von Hippel Lindau disease
Autosomal Dominant Polycystic Kidney disease
Presentations: flank pain, hematuria, recurrent UTI, renal stones, obstructive uropathy, obstructive pressure symptoms
= pkd1 on chromosome 16, pkd2 on chromosome 4, pkd3
= bilateral enlarged ballotable kidneys
= uremic frost, AV fistula
= liver cysts also present
= Berry aneurysm of cerebral vessels, risk of SAH
= Hypertension
= Mitral valve prolapse due to collagen defects (25%)
= USS, CT, MRI, genetics recommended after age 20 yrs
Von-Hippel-Lindau disease
Autosomal dominant, defective tumor suppressor gene
Presents with
- renal angiomata tumors
- brain and spinal cord haemangiomas
- Renal cell carcinoma
- Endolymphatic sac tumors
- Phaeochromocytomas with resistant hypertension
- Papillary cyst adenomas of epididymis
- angiomata of Liver and kidneys
- Cysts of pancreas, kidneys, Liver, Epididymis
Renal Failure needing transplant, causes
- Diabetes mellitus
- Hypertension
- Autosomal Dominant Polycystic kidney disease
- Glomerulonephritis
- NSAID overuse CKD
- Myeloma
——————————- - Systemic Sclerosis
- Sequelae of Hemolytic Uremic syndrome
- Sickle cell disease
- Focal glomerulosclerosis
- Oxalosis, Cystinosis, Fabry’s disease
Calcium Metabolism in Renal failure
Vitamin D is converted to its active form 1,25-dihydroxycholecalciferol (Calcitriol) in the kidney. In Renal failure, there is decreased excretion of phosphate which leads to hyperphosphatemia and low calcitriol leads to hypocalcemia (High phosphate & Low calcium). They cause secondary hyper-parathyroidism and renal osteodystrophy. Due to this arterial calcifications occur increasing cardiovascular morbidity and mortality.
Tertiary hyper-parathyroidism due to prolonged stimulation makes it independent of low calcium status @ leading to autonomous continuous secretion of parathormone leading to Hypercalcemia.
Treatment:
Aim is to reduce bone resorption, arterial calcification & development of tertiary hyperparathyroidism.
= Low phosphate diet
= Vitamin D supplementation (alfa-calcidol)
= Cincalcet, a calcimimetic which tricks parathyroid into thinking that extra-cellular calcium levels are higher and gland reduces hormone Secretion.
= Sevelamer, Phosphate binder in diet (or Lanthanum carbonate)
Tuberculosis, Principle varieties
- Primary pulmonary TB - initial inhalation of Mycobacterium bacillus leading to draining lymph node infection called as Ghon focus
- Miliary TB is dissemination of TB as primary infection
- Tuberculous meningitis as primary infection directly - Post-Primary Pulmonary TB : reactivation when immunity low
- Bone and Joint TB
- Urinary TB
- Genital TB
- Cutaneous TB: primary papeles, sinus, Miliary, verrucous, Scrofuloderma, Lupus vulgaris
- Tuberculous lymphadenitis
- Tuberculous peritonitis with ascites
Diagnosis:
= sputum ZN staining
= Lowenstein Jenson medium TB culture
= Interferon gamma release assay
= Gold quantiferon test
Treatment:
2 weeks isolation-initially
RIPE drugs for 2 months then Rifampin + INH for 4 months
Apical Lung Fibrosis, Causes
Ankylosing spondylitis
Tuberculosis pulmonary infection
Ca bronchus
Atypical pneumonia as with Klebsiella pneumoniae
Pulmonary infarction
Fungal pulmonary infection
Gold Quantiferon TB test
QuantiFERON-TB Gold (QFT) is a simple blood test that aids in the detection of Mycobacterium tuberculosis, the bacteria which causes tuberculosis (TB). QFT is an interferon-gamma (IFN-γ) release assay, commonly known as an IGRA, and is a modern alternative to the tuberculin skin test (TST, PPD or Mantoux). Unlike the TST, QFT is a controlled laboratory test that requires only one patient visit and is unaffected by previous Bacille Calmette-Guerin (BCG) vaccination.
QFT is highly specific and sensitive: a positive result is strongly predictive of true infection with M. tuberculosis. However, like the TST and other IGRAs, QFT cannot distinguish between active tuberculosis disease and latent tuberculosis infection, and is intended for use with risk assessment, radiography, and other medical and diagnostic evaluations. Like any diagnostic aid, QFT cannot replace clinical judgment.
The US Centers for Disease Control (CDC) Guidelines recommend the use of IGRAs in all situations in which the TST was historically used, with IGRAs being the preferred test for persons who have been BCG vaccinated or are unlikely to return for TST reading (1).
Gold Quantiferon test results
QFT uses unique blood collection tubes that enable immediate exposure of viable blood lymphocytes to highly specific TB antigens (ESAT-6/CFP-10/TB-7.7(p4)) and test controls coated on the inner surface of the tubes. Antigen exposure produces a quantifiable immune response to aid in the diagnosis of TB infection.
Nil tube
Negative control to adjust for background IFN-γ
TB Antigen tube
To detect the CD4+ T cell responses to TB antigens
Mitogen tube
Low response may indicate inability to generate IFN-γ
Superio vena cava obstruction, signs
Symptoms of SVC obstruction:
= Headache, more on cough
= breathlessness
= swallowing difficulty
= Dizziness or blackouts
Signs of SVC obstruction:
= facial plethora
= distended neck veins
= venous angiomata sublingual
= dilated chest, arm veins
= radiation therapy marks
= suffused eyes
Pemberton Maneuver: on raising both arms for a minute will make face red
SVC obstruction, Causes
Causes:
CA bronchus
Lymphoma
Multimodal Goitre
Aortic aneurysm
Mediastinal fibrosis
Rx by stent, radiation, Dexamethasone, surgery
Lung Collapse, Upper/ Lower (Rt)
= Tracheal deviation if Upper lobe, Rt
= Reduced chest expansion same side
= Cardiac apex shifted to same side
= Dull percussion note & bronchial breath sounds below
= Vocal resonance increased anteriorly with Upper Lobe and below scapula in Lower lobe collapse
= Sputum production increased if chronic collapse as infection sets in.
Lung Collapse, Causes
Acute causes of Lung collapse:
= Mucus plugging of bronchus
= Inhaled foreign body blocks bronchus
= Chest wall injury/Rib # casuing reduced local movement and collapse
——————–
Sub-Acute causes of Lung Collapse:
= Proximal obstructing lesion, ex. tumor
= Post Op, Prolonged Bed rest with
atlectasis in a chronic Lung disease
——————————–
Chronic Causes of Lung collapse:
= Post Pneumonia focal fibrosis
= Bronchiectasis
= Chronic aspiration with excess secretions or recurrent infections
= Diaphragmatic palsy
= Pulmonary fibrosis
= Trapped Lung due to pleural thickening
Pickwickian Syndrome
it is cor pulmonale secondary to extreme obesity
= High BMI > 40
= Rapid shallow breathing, Ankle edema, Cyanosis
= JVP elevated
= Chronic Hypoxemia with Hypercapnia
= Night Obstructive sleep apnea (10 second or more of no breathing), day time sleepy,
= usually can only sleep sitting
= PAH develops - Polycythemia -Cor pulmonale
= Morning headaches
= Impotence
———————————–
Waist:Hip > 0.85 in women, > 1.o in men is abnormal
Obstructive versus Central Sleep Apnea
Central sleep apnea: cessation of sleep drive from brain which lasts for 10-30 seconds, CO2 builds up, hypoxia kicks in breathing re starts. There are no diaphragmatic movements, no thoracoadbomninal movements during this apnea. Obese are prone but cause unknown.
Obesity Clinical manifestations
= Obstructive sleep apnea-PAH-Cor pulmonale
= Insulin resistance with DM type 2
= Hypertension ? due to Hyperinsulinemia+Na retention
= LVH, more if Hypertensive with risk of SCD
= Dyslipidemia, Low HDL, High LDL, high TG
= Venous thrombosis-embolism
= Lower limb early osteoarthritis due to weight load
= Cancers: high risk of:
women - endometrial/ Bile/ Postmenopausal Ca-breast
Men - Colon, rectum, prostate
= cholesterol GB stones
= Intertrigo along skin folds
= High mortality due to all of above
Obesity: Endocrine causes: < 1%
Hypothyroidism: - Hoarse voice, rough skin, Menorrhagia, Hard stools, thin hairs, Low mood, non pitting tissue swelling, slow pulse, slow relaxing DTR
Cushing’s disease: truncal obesity, moon face, purple striae, proximal muscle weakness,
Polycystic ovaries: Hirsutism, Oligomenorrhea, Excess androgen from ovaries, USS suggestive
Hypothalamic damage - Hyperphagia - Stroke, trauma, craniopharyngioma, inflammation, tumors
Genetic diseases and Obesity
Prader willi syndrome
#Laurence-Moon-Bardet-Bidl syndrome
#Alstrom syndrome
#Cohen’s syndrome- microcephaly, MR, ShortStature, Facial abnormalities, Obesity
#Carpenter syndrome - sagital craniosynostosis, Acrocephaly, Turricephaly (tower shaped skull) Syndactyly@fingers (fused), Polysyndactyly@toes, undescended testicles, AutoRec(chr6)
#Blount’s disease - bowed legs, tibial torsion, obesity
Cystic Fibrosis
Autosomal Recessive
Sweat Chloride > 70 mmols/Lit
= Excessive mucus with plugging, recurrent respiratory infections and bronchiectasis, EXCESS SPUTUM
= Underdeveloped, thin, short, pale
= Pancreatic insufficiency+ malnutrition
= Recurrent pain abdomen, history of fecal impactions
= Steatorrhea with foul smell stools, difficult to flush down
= GBstones, Biliary cirrhosis, Portal HTN
= iNFERTILITY ASPERMIA
= iNTUSUSSEPTION
= COR PULMONALE (LONG STANDING)
Lung Transplant, indications
Restrictive: IPF, 2ry Pulmonary fibrosis as in sarcoidosis, drug induced, CTD, chronic allergic alveolitis
—————————-
Obstructive: Emphysema with or without A1AT deficiency
————————–
Suppurative: Cystic fibrosis, Bronchiectasis
Lung Transplant, Complications
infections: CMV, EBV, HSV, Bacterial, Aspergillosis, Candida, Pneumocystis
—————————–
Rejection:
Hyperacute- within Hours
Acute- within days, dry cough/ dyspnea, malaise
Bronchiolitis obliterans
Drug side effects:
Cushings syndrome due to steroids
Azathioprine, cyclosporine,
Kartagener syndrome
autosomal recessive, 1 in 30,000
Male patients-invariably infertile because of immotile spermatozoa.
The immotility is due to variety of ultrastructural defects in respiratory cilia and sperm tail.
————————————–
Dextrocardia
Bronchiectasis/COPD/Pneumonia
young, underweight, pale male
Situs inversus
infertility
Sinusitis
Dysplasia of frontal sinus
Otitis media, Deafness
Retinitis pigmentosa may be present
Cystic Fibrosis treatment
Medicines for lung problems include:
1. Antibiotics to prevent and treat chest infections.
2. Combination of 3 medicines (Kaftrio) to treat the root cause of cystic fibrosis in people age 12 and over
3. Medicines to make the mucus in the lungs thinner & easier to cough up – for example, dornase alfa, hypertonic saline and mannitol dry powder
4. Medicine to help reduce the levels of mucus in the body – for example, ivacaftor taken on its own (Kalydeco) or in combination with lumacaftor (Orkambi, but this is only available on compassionate grounds if people fulfil several criteria set by the manufacturer)
5. Bronchodilators to widen the airways and make breathing easier
6. Steroid medicine to treat small growths inside the nose (nasal polyps)
7. Routine vaccinations and have the flu jab each year once they’re old enough.
Bronchiectasis Associations
Conditions linked to bronchiectasis:
Acquired obstruction- foreign body, tumour, lymphadenopathy, COPD, mucoid impaction and connective tissue diseases.
————————————-
Congenital obstruction - bronchomalacia, tracheobronchomegaly, ectopic bronchus, pulmonary sequestration, pulmonary artery aneurysm and yellow nail syndrome.
—————————————
Immunodeficiency states with recurrent infections - IgG, IgA deficiencies, abnormalities of leukocyte function, conditions affecting primary antibody production.
——————————
Abnormal secretion clearance - immotile cilia syndrome, cystic fibrosis, Young’s syndrome.
—————————-
Miscellaneous disorders - alpha-1 antitrypsin deficiency, recurrent aspiration pneumonia, inhalation of poisonous dust and fumes and chronic rejection following organ transplantation.
Kartagener Syndrome, work up
CXR, CT scans
Transmission EM of cilia
Semen analysis
Sachharin Test
Nitric oxide inhalation/ Exhalation
Pulmonary Function Testing
Tracheal/ Nasal mucosal biopsy
Stridor Causes
Inspiratory Stridor:
= Upper airway foreignbody
= Retropharyngeal abscess
= Acute Epiglottitis, Croup
= Smoke inhalation with airway edema
= Neoplastic, Tracheal stenosis
————————-
Expiratory Stridor: lower thoracic
= Foreign body
= Intra-luminal neoplasm
= Lower tracheal stenosis
= Bronchial stenosis
= Severe bronchial asthma
Tracheal Stenosis, Causes
= Congenital web or tracheal stenosis
= Acquired post tracheaostomy
= Acquired Post intubation
= Post airway/ thoracic trauma
= Post infections as TB
= Neoplasms related
Kypho-scoliosis, Causes
Kyphosis is forward spine curve
Scoliosis is lateral spine curve
1.Idiopathic - 65%
2. Congenital Kypho-Scoliosis:
= Fused vertebre (klippel-feil)
= Fused ribs
= Hemi vertebrae
3. Paralytic Kypho-Scoliosis - secondary to supportive action of the trunk and spinal muscles, anterior poliomyelitis
4. Neuropathic Kypho-Scoliosis: as a complication of:
= Neurofibromatosis
= Spina bifida
= Cerebral palsy
= Syringomyelia
= Friedrich’s ataxia
5. Myopathic: DMD, BMD,
6. Metabolic: Marfan’s syndrome, Cystine Storage diseases
Arthrogryposis
Arthrogryposis, also called arthrogryposis multiplex congenita (AMC), involves a variety of non-progressive conditions that are characterized by multiple joint contractures (stiffness) and involves muscle weakness found throughout the body at birth.
thought to be related to inadequate room in utero and low amniotic fluid. The patient may have an underlying neurological condition or connective tissue disorder.
Kyphosis, Alone, causes
Postural
Degenerative spine, Osteoporosis
Scheurmann’s disease
Congenital kyphosis
Nutritional, Vit D deficiency
Post TB of spine, Gibbus
Post traumatic, vertebral fractures
—————————-
Kypho-Scoliosis leads to restrictive lung disease with reduced FEV1 and FVC but ratio remains normal as both reduced.
FVC of under 1 Lit will increase the risk of hypercapneic respiratory failure.
Cobb Angle
Cobb angle is a measurement of the degree of side-to-side spinal curvature, which is a deformity you may know as scoliosis. A Cobb angle describes the maximum distance from straight a scoliotic curve may be. Generally, it takes at least 10 degrees of deviation from straight before scoliosis is defined.
It is an angle between a line drawn parallel to superior endplate of one vertebra above deformity AND a line drawn parallel to inferior endplate of the vertebra one level below the deformity.
Rheumatoid Lung
= Rheumatoid Hands/nodules/deform
= basal fine inspiratory crackles
= Clubbing may be present
—————————–
pleural disease: rub/ effusion with dullness, pleural fluid high in protein+LDH+RAfactor and Low in Sugar+C3+C4, wbc<5000 in fluid/ulit
—————–
Intra-Pulmonary nodules: small, may cavitate, resembles TB, tumor, may bleed. May rupture causing pneumo-thorax. Caplan syndrome is big cannon ball rheumatoid nodules + pneumoconiosis.
————————-
Obliterative bronchilitis: dyspnea, Hyperinflation, expiratory wheeze.
———————-
Gold or penicillamine treatment associated fibrosing alveolitis.
——————-
Pulmonary arteritis
Apical fibro-bullous disease
Pleural Effusion, Exudate Causes
Pleural fluid content > 30 Gms/Lit
= Bronchial carcinoma
= Secondary malignancy
= Pulmonary embolism + infarction
= Pneumonia
= Tuberculosis
= Mesothelioma
= Rheumatoid arthritis pleural disease
= SLE associated
= Lymphoma associated
Pleural Effusion, clinical signs
- Dullness at base on auscultation
- Stony dull percussion note as bases
- Reduced tactile fremitus
- Reduced vocal resonance
- Bronchial breathing above dullness
- Trachea usually central unless large
Pleural Effusion, Transudate Causes
Pleural fluid protein < 30 Gms/Lit
Cardiac failure
Liver cirrhosis
Nephrotic syndrome
———————————
Other causes of Pleural Effusion:
= Meig’s syndrome (ovarian fibroma)
= Subphrenic abscess
= Para pneumonic
= Peritoneal dialysis
= Hypothyroidism
= Pancreatitis
= Dressler syndrome
= Asbestos exposure
= Traumatic Hemothorax
= Yellow Nail syndrome
= Chylothorax
Causes of Dullness at Lung base
Pleural effusion/fluid/bLood
= RAISED HEMIDIAPHRAGM - hepatomegaly or phrenic palsy
= Basal Lung collapse
= Collapse consolidation
= Pleural thickening
Bronchiectasis, clinical signs
clubbing, cough, crackles
Bronchiectasis is irrversible dilatation of the bronchioles with mucus plugging, recurrent infection and obstruction.
= crackles over bronchiectactic area
= polyphonic wheeze, changes to cough
= Sputum pot by the bed
= thin, malnourished, underweight
= clubbing if long term
————————————–
Other differentials:
= Fibrosing alveolitis
= Post TB
= Lung abscess
= Sarcoidosis
= Carcinoma lung
Bronchiectasis, Causes
= Post Pertusis/ Measles/ TB
= Cystic fibrosis
= Yellow nail syndrome
= Kartagener syndrome (AutoRece)
= Bronchial obstruction (TB, tumor, FB)
= Fibrosis
= Hypo-gamma-globulinemia
= Allergic BPA
= Marfan’s syndrome
= Smoker COPD
= Congenital causes: Sequestred lung segment, Bronchial atresia, KS
Chronic Bronchitis-Emphysema-COPD
Emphysema: a Histological/CT diagnosis: disorder affecting the alveoli (tiny air sacs) of the lungs. The transfer of oxygen and carbon dioxide in the lungs takes place in the walls of the alveoli. In emphysema, the alveoli become abnormally inflated, damaging their walls and making it harder to breathe.
———————-
COPD - comprises both, chronic bronchitis and emphysema and labeled after PFT done. Patients with COPD have airflow obstruction that is caused either by destruction of the air sacs that exchange gas in the lungs (emphysema) and/or inflammation of the airways (chronic bronchitis).
Chronic Bronchitis-Emphysema-COPD
Chronic bronchitis - Blue bloaters
Emphysema - pink puffers
= Hyperexpansion of lungs
= Hyper-resonant percussion notes
= Pursed Lips breathing
= thin stature, rib indrawing
= pink puffer or blue bloater
= Suprasternal to cricoid distance <3cm
= Long forced expiratory time >5
= prolonged expiration with wheeze
= breathlessness at rest
= Flapping hand tremors, check fundi
= Liver and cardiac percussion lost
= cor pulmonale features may be
EMPHYSEMA Causes
A1 anti-trypsin deficiency
Smoking
Coal Dust
McLeod-Swyer-James syndrome, unilateral emphysema after childhood bronchitis/ bronchiolitis episodes
—————————-
work up:
FEV1 < 80% PREDICTED, DIAGNOSTIC
FEV1/FVC Ratio < 0.7
TLC, RV elevated, TLCO reduced
CXR - > 7 posterior ribs elevated means hyper expanded
Flattened diaphragn
Irregular Lung vasculature
Bullae in lung fields
ABG to see hypercapnea
HRCT Chest
Alfa 1 anti-trypsin levels
6 minute walk test, spo2 drops during it
EMPHYSEMA Causes
A1 anti-trypsin deficiency
Smoking
Coal Dust
McLeod-Swyer-James syndrome, unilateral emphysema after childhood bronchitis/ bronchiolitis episodes
—————————-
work up:
FEV1 < 80% PREDICTED, DIAGNOSTIC
FEV1/FVC Ratio < 0.7
TLC, RV elevated, TLCO reduced
CXR - > 7 posterior ribs elevated means hyper expanded
Flattened diaphragn
Irregular Lung vasculature
Bullae in lung fields
ABG to see hypercapnea
HRCT Chest
Alfa 1 anti-trypsin levels
6 minute walk test, spo2 drops during it
Causes of Diffuse ILD, Acute
Acute ILD:
= Vasculitic, Goodpastures
= Infection related, Immunosupression
= Eosinophillic - Parasitic, ABPA, Drugs
= ARDS
——————————–
Diffuse ILD, Chronic causes
Chronic ILD:
= Cryptogenic fibrosing alveolitis
= Rheumatoid Lung
= Systemic sclerosis
= SLE
= Polymyositis-Dermatomyositis
= Sjogren’s syndrome
= Mixed CTD
= Ankylosing spondylitis
= Sarcoidosis
= Extrinsic allergic alveolitis
= Asbetosis
= Silicosis
= Radiation fibrosis
= Chemical inhaled: Beryllium, Mercury
= Poison ingested - Paraquat
= ARDS - also called Acute interstitial pneumonia
= Drugs causing ILD: Bleomycin, Busulfan, Nitrofurantoin, Amiodarone
JVP Giant wave clue
Giant wave before carotid pulse is “a” wave and indicates PAH, Pulmonary stenosis.
Giant wave after carotid pulse is “v” wave and indicates Tricuspid regurgitation or CCF.
Alopecia, some causes
Diffuse Alopecia:
= male pattern baldness
= Cytotoxic drugs
= Hypothyroidism
= Hyperthyroidism
= Iron deficiency
Patchy alopecia:
= Alopecia areata
= Ring worm infection
= Discoid lupus erythematosus
= Lichen planus
Epidermolysis bullosa dystrophica
A rare, inherited disorder in which blisters form on the skin and the moist inner lining of some organs and body cavities. The disease appears at birth or during the first few years of life, and lasts a lifetime. Prognosis is variable, but tends to be serious. Life expectancy is 50 years, and the disease brings with it complications related to infections, nutrition and neoplastic complications.
Supportive care — There is no specific therapy for most forms of epidermolysis bullosa (EB). Treatment is largely supportive and includes wound care, control of infection, nutritional support, and prevention and treatment of complications.
Dermatitis herpetiformis
Dermatitis herpetiformis (DH) is a chronic autoimmune blistering skin condition,[3] characterised by intensely itchy blisters filled with a watery fluid.[4] DH is a cutaneous manifestation of coeliac disease,[5] although the exact causal mechanism is not known. DH is neither related to nor caused by herpes virus; the name means that it is a skin inflammation having an appearance (Latin: -formis) similar to herpes.
The age of onset is usually about 15 to 40, but DH also may affect children and the elderly. Men are slightly more affected than women.[6] Estimates of DH prevalence vary from 1 in 400 to 1 in 10,000. It is most common in patients of northern European and northern Indian ancestry, and is associated with the human leukocyte antigen (HLA) haplotype HLA-DQ2 or HLA-DQ8 along with coeliac disease and gluten sensitivity.[7][8][9][10][11]
Dermatitis herpetiformis was first described by Louis Adolphus Duhring in 1884.[12] A connection between DH and coeliac disease was recognized in 1967. TREATMENT - Gluten free diet +Dapsone
Pemphigus
Pemphigus: is a rare group of blistering autoimmune diseases that affect the skin and mucous membranes. The name is derived from the Greek root pemphix, meaning “pustule”.
In pemphigus, autoantibodies form against desmoglein, which forms the “glue” that attaches adjacent epidermal cells via attachment points called desmosomes. When autoantibodies attack desmogleins, the cells become separated from each other and the epidermis becomes detached, a phenomenon called acantholysis. This causes blisters that slough off and turn into sores. In some cases, these blisters can cover a large area of the skin.
Types of Pemphigus
1. P vulgaris
2. P foliaceus
3. Intra-epithelial neutrophillic IgA dermatosis
4. Paraneoplastic pemphigus
5. fogo selvagem, variant of Type2
- Pemphigus vulgaris: most common form, occurs when antibodies attack desmoglein3. Sores often originate in the mouth, making eating difficult and uncomfortable. Although PV may occur at any age, it is most common among people between 40 and 60. Rarely, it is associated with myasthenia gravis. Nail disease may be the only finding and has prognostic value in management.
- Pemphigus foliaceus (PF) is the least severe of the three varieties. Desmoglein 1 is targeted by the autoantibodies, is enriched in the upper skin layers. PF is characterized by crusty sores that often begin on the scalp, and may move to the chest, back, and face. Mouth sores do not occur. It is not as painful as PV, and is often misdiagnosed as dermatitis or eczema. PF is endemic in Brazil [9] and Tunisia.
- Intraepidermal neutrophilic IgA dermatosis is characterized histologically by intraepidermal bullae with neutrophils, some eosinophils, and acantholysis.
- Paraneoplastic pemphigus (PNP): LEAST COMMON, most severe, with usually lymphoma or Castleman’s disease. It may precede the diagnosis of the tumor. Painful sores appear on the mouth, lips, and the esophagus. In this variety of pemphigus, the disease process often involves the lungs, causing bronchiolitis obliterans (constrictive bronchiolitis). Complete removal of and/or cure of the tumor may improve the skin disease, but lung damage is generally irreversible.
- Endemic pemphigus foliaceus includes fogo selvagem, the new variant of endemic pemphigus foliaceus in El Bagre, Colombia, and the Tunisian endemic pemphigus in North Africa.
Hailey - Hailey disease
Hailey-Hailey disease, also called familial benign pemphigus, is an inherited skin disease, not an autoimmune disease, so it is not considered part of the pemphigus group of diseases.
characterized by outbreaks of rashes and blisters on the skin. Affected areas of skin undergo repeated blistering and inflammation, and may be painful to the touch. Areas where the skin folds, as well as the armpits, groin, neck, buttocks and under the breasts are most commonly affected. In addition to blistering, other symptoms which accompany HHD include acantholysis, erythema and hyperkeratosis.
The cause of the disease is a haploinsufficiency of the enzyme ATP2C1;[6] the ATP2C1 gene is located on chromosome 3, which encodes the protein hSPCA1. A mutation on one copy of the gene causes only half of this necessary protein to be made and the cells of the skin do not adhere together properly due to malformation of intercellular desmosomes, causing acantholysis, blisters and rashes. There is no known cure.
Mikulicz syndrome
IgG4 related disease
Mikulicz syndrome is a chronic condition characterized by the abnormal enlargement of glands in the head and neck, including those near the ears (parotids) and those around the eyes (lacrimal) and mouth (salivary). The tonsils and other glands in the soft tissue of the face and neck may also be involved.
According to the criteria of Schaffer and Jacobsen, 1 Mikulicz’s disease is of unknown etiology and follows a benign course, whereas Mikulicz’s syndrome is associated with some other disorders such as leukemia, lymphosarcoma, tuberculosis, and sarcoidosis.
Benign lymphoepithelial lesion or Mikulicz’ disease is a type of benign enlargement of the parotid and/or lacrimal glands. This pathologic state is sometimes, but not always, associated with Sjögren’s syndrome.
Neck Lymph nodes
Anterior, Posterior cervical
Deep cervical
Submandibular
Suboccipital
Post auricular
Supraclavicular
Separately felt in:
= Reactive hyperplasia
= infectious mononucleosis
= Lymphoma
Matted feel in:
= Neoplastic
= Tuberculous
Soft, rubbery, Fleshy = Hodgkins
Hard, fixed to skin = neoplastic
If found without Goiter = also examine axillae, Groin and spleen.
Signs of Thyroid Diseases
Hypothyroid
Hyperthyroid
Euthyroid
Hypothyroidism:
= Immobile, uninterested, slow wits
= Slow speech, Slow movements
= Slow pulse, Bradycardiac < 60
= Slow relaxing DTR, specially ankle
= constipation, Hard stools
= frequent bloating of abdomen
= overweight
= Hair loss, thinning
= Menorrhagia
= soft tissue swelling@ ankles
Hyperthyroidism:
= fine tremors hand -paper on dorsum
= anxious, fidgety
= sweaty palms
= Rapid pulse, may be AFib
= Exophthalmous: sclera visible above lower eye lid (normally not)
= Lid retraction - sclera visible above cornea (normally not)
= Test for Lid Lag
= thin over active stature, good appetite
Goitre may be present No both states
Euthyroid will have goiter but no other signs of over or hypo thyroidism
Thyroid Examination steps
- ask to take a sip of water - hold it in mouth - swallow while u see at neck
- palpate center isthmus with index+middle fingers and move laterally to lobes
- Ask to swallow while palpating lobes
- feel of Lymph nodes in neck
- Listen over thyroid lobes both sides for bruit - sign of overactivity - occlude IJV while listening to it and rotate head to other side as well.
- Percuss over sternum for extension of thyroid gland, should be dull note
- Assess thyroid status
- Feel the pulse for Afib
- Comment on stature - thin or obese
- check slow relaxing ankle reflex by asking to stand with knee on chair and foot handing at edge - tap it with hammer
Keratoderma blenorrhagica
are skin lesions commonly found on the palms and soles but which may spread to the scrotum, scalp and trunk. The lesions may resemble psoriasis.
Keratoderma blennorrhagicum is commonly seen as an additional feature of reactive arthritis in almost 15% of male patients. The appearance is usually of a vesico-pustular waxy lesion with a yellow brown colour. These lesions may join to form larger crusty plaques with desquamating edges.
Can be due to Reiter’s syndrome, (rash mimics syphilitic infection), sometimes referred to as “seronegative spondyloarthropathy” or “reactive arthritis”, consists of predominately three symptoms: arthritis, conjunctivitis, and urinary tract infections, or urethritis. More recently, doctors have recognized a fourth major feature, ulcerations of the skin and mouth.
Fever in a returning traveller
Differential for this is is vast:
= Malaria
= Dengue fever
= Traveller’s diarrhea: Shigella, Campylobacter, amoebic, Typhoid
= Enquine encephalitis, Meningitis
= Lyme disease, Rocky mountain spotted fever
= Viral Hepatitis
= Avian influenza, COVID-19,
= HIV
= Viral haemorrhagic fevers
Major features of falciparum malaria
= impaired consciousness of seizures
= Hypoglycemia
= Parasite counts more than 2%
= Haemoglobin at or below 8 Gms%
= Spontaneous bleeding or DIC
= Haemoglobinuria with normal G6PD
= Renal impairment, PH < 7.30
= Pulmonary edema or ARDS
= Shock status with BP < 90/60
Blackwater fever
complication of malaria - massive intra-vascular hemolysis leads to anemia, hemoglobinuria where urine turn coca cola like on standing. a feature of severe falciparum malaria.
Questions to ask if DVT suspected?
Suspect DVT:
= Malignancy: wt loss, anemia, family history,
= IBD: bleeding diarrhea, oral ulcers, pain abdomen, abd surgeries
= Thrombophilia: H/o recurrent abortions
= Long travels (air, car)
= OC pill-HRT-Tamoxifen use,
= Smoking or IVDU
= Recent surgery, POP cast
= about swollen Leg itself: trauma/redness/rash/injuries/bites/temperature/
DVT differentials
= Leg Deep vein thrombosis
= Ruptured Baker’s cyst, popliteal
= Stasis edema due to long immobility
= Cellulitis of the Leg
= Injury with compartment syndrome
= Muscle injury, Haematoma
Note - if DVT US scan is negative but clinical probability is high (Well’s score > 2) = repeat scan after 1 week and continue LMWH till then.
Well’s Score for DVT, 2 level
2 Points or more = DVT Likely
Score 1 point for each:
= Active malignancy
= Paralysis or recent POP casting
= Recently bedridden > 3 days
= Major surgery in past 12 weeks
= Localized tenderness along veins
= Entire Leg swollen
= Calf swelling > 3 cm (10 cm below tibial tuberocity)
= Pitting edema confined to same leg
= Collateral superficial non varicose veins
= Previous documented DVT
Score minus 2 for each of:
= Alternative diagnosis likely
2 Points or more = DVT likely
Peripheral neuropathy examination
= Hand wasting of lumbricals (assist in metacarpophalangeal joint flexion) and interossei (4 palmar, 4 dorsal, adduction and abduction of fingers)
= Foot wasting of Extensor digitorum brevis which extends 4 toes and only proximal phalanx of great toe
= Pes cavus, Claw Hands (indicates long standing neuropathy)
= fasciculations (MND)
= Foot ulcerations (neuropathic)
= Etiological clues: finger prick marks, insulin marks, vasculitic purpura, Bruises of CLD, ALD, Leuconychia (poor nutrition), AVFistula/HD cath.
= Other neurological examination..
Thickening of Peripheral nerves, causes
Causes of nerve thickening: (the mnemonic HAGALO)
1. Hypertrophic neuropathy - a rare autosomal dominant condition.
2. Acromegaly.
3. Guillain Barre - relapsing & remitting
4. Amyloid.
5. Leprosy.
6. Others - e.g. Neurofibromatosis, Diabetes, Sarcoidosis, Charcot-Marie-Tooth disease.
Differential for Peripheral neuropathy
- Metabolic: Pyridoxine, Niacin, Thiamine, B12 deficiency
- Para-neoplastic: Small cell Lung Ca (Anti Hu AB+), MULTIPLE MYELOMA
- Infection: - HIV, Lyme, Diphtheria, HSV, HTLV, CMV,
- Hereditary: HSMN (CMT)
- Systemic: Uremia, Myxedema, Thyrotoxicosis, Diabetes mellitus
- Inflammatory: CIDP, AIDP, Sarcoidosis, SLE, Vasculitis (ANCA)
- Drugs- Platinum/Vinca alkaloids, Metronidazole, Phenytoin, OP Poison, Chloramphenicol, INH, Alcohol, Heavy Metals, Nitrofurantoin, Amiodarone
Visual Symtom Questions?
Diplopia, Double vision
= Onset, duration, persistent or not
= Past similar episodes?
= is it one eye or both?
= Is it painful or not? (optic neuritis)
= Is it all directions or specific?
= Does it disappear on covering one eye
= Visual acuity - blurring, scotoma, total
=Any headache? Autoimmune/ inflammatory/ vascular causes
= Any other neurological symptoms- dysarthria/ focal weakness/ Sensory/ Autonomic/ cognitive symtoms?
Causes of Hypoglycemia in non DM
EXPLAIN (mnemonic)
E = Exogenous drugs, eg insulin, oral hypoglycaemics, alcohol, eg a binge with no food; aspirin poisoning; ACE-i; B-blockers; pentamidine; quinine sulfate; aminoglutethamide; insulin-like growth factor.
P = Pituitary insufficiency.
L = Liver failure
A = Addison’s disease
I = Islet cell tumours (insulinoma) and immune hypoglycaemia (eg anti-insulin
receptor antibodies in Hodgkin’s disease).
N = Non-pancreatic neoplasms, eg fibrosarcomas and haemangiopericytomas.
Diplopia, Monocular
= Cataracts
= Refractive error
= Corneal distortion or scarring
= Vitreous abnormalities
= Functional diplopia
Diplopia, Binocular
NMJ = Myasthenia gravis, fatiguable
EOM cause = Orbital inflammation/ fracture or tumor causing restriction of EOM muscle movements
Horizontal Dplopia: Abducens palsy due to SOL, MS, Stroke, DM, Aneurysm etc
Horizontal and/or vertical:
3
Diplopia, Binocular
NMJ = Myasthenia gravis, fatiguable
EOM cause = Orbital inflammation/ fracture or tumor causing restriction of EOM muscle movements
Horizontal Dplopia: Abducens palsy due to SOL, MS, Stroke, DM, Aneurysm etc
Horizontal and/or vertical:
3rd nerve palsy: DM, Stroke, MS,trauma
4th nerve palsy: Stroke, DM, Aneurysm, trauma, SDH
Graves ophthalmopathy
ACR criterias for Giant cell Arteritis
3 or more of following:
= onset at 50 yrs of age or older
= New type of headache
= Clinically abnormal Temporal artery
= ESR > 50
= Arterial Biopsy: granulomatous inflammation with giant nucleated cells, skip lesions possible - do biopsy within 3 days and take 2cm sample.
Also Ask about Jaw claudication and Proximal myopathy symptoms.
Steroid Treatment in GCA:
Prednisolone:
Start 60-80 mg OD if visual symptoms
Start 40 mg OD if no visual, for 1-4 wks
Taper to 30 mg week 5-6
Taper to 20 mg week 7-8 then slowly over 2 years.
+ PPI + Bone protection calcium/VitD
Inform DVLA if vision involved
Urso-deoxycholic Acid
Ursodeoxycholic acid or ursodiol is a naturally occurring bile acid that is used dissolve cholesterol gall stones and to treat cholestatic forms of liver diseases including primary biliary cirrhosis.
UDCA can be obtained from cholic acid (CA), which is the most abundant and least expensive bile acid available. It is synthesized in the liver in some species, and was first identified in bile of bears of genus Ursus, from which its name derived.
Cholic (koe’ lik) acid is a naturally occurring, primary bile acid that represents a major component of the total bile acid pool in humans. Cholic acid is synthesized from cholesterol in the liver and is conjugated to either glycine (glycocholic acid) or taurine (taurocholic acid) before secretion in the bile.
Beri Beri
Thiamine deficiency can result in clinical syndromes other than WE. These syndromes fall under the rubric of beriberi. There are two major types of beriberi: wet beriberi which affects the cardiovascular system and dry beriberi which affects the nervous system. Wet beriberi is characterized by high-output, predominantly right-sided heart failure, orthopnea, and pulmonary or peripheral edema.6 Dry beriberi is a painful, distal sensorimotor axonal polyneuropathy that affects the lower limbs more than the upper.47 Patients may experience limb weakness (ie foot drop), decreased proprioception, and reduced or absent peripheral reflexes.50 Gastrointestinal beriberi is a lesser known form which manifests as abdominal pain, nausea, vomiting, and lactic acidosis.7
Infants between two and twelve months of age can develop beriberi if either breastmilk or baby formula is thiamine-deficient.6 Infantile beriberi is characterized by failure to thrive, cardiomyopathy, dyspnea, restlessness, nystagmus, and aphonia. An example of infantile beriberi took place in Israel in 2003. An imported soy-based infant formula was deficient in thiamine, resulting in infantile beriberi in a cluster of newborns.
Protracted vomiting of any cause increases the risk of WE. Pyloric stenosis, gastritis, Crohn’s disease, bowel obstruction, pancreatitis, migraine attacks with vomiting, hyperemesis gravidarum, and gastrointestinal or orofacial cancers comprise many of the abdominal conditions that predispose to WE.12 Gastrointestinal surgery is another major risk factor. WE usually develops two to eight months postoperatively in patients with >7 kg of weight loss per month.
Korsakoff’s Psychosis
Korsakoff Syndrome
Early in the disease course, patients with WE may develop memory disturbance, indifference, and disorientation. If left untreated, this impairment can become profound and progress into an amnestic disorder referred to as KS. Rarely, KS occurs in isolation without the preceding acute features of WE. Lesions of the dorsomedial thalami have been linked to memory loss. An animal study using young chicks found that alcohol neurotoxicity may be a contributing factor to memory loss.
KS is associated with both anterograde and retrograde amnesia. The former is a defect in acquiring new memories and may be as severe as not recalling events occurring within the past thirty minutes. The latter affects the ability to recall events of the recent past, although long-term memory is retained. Working memory rather than reference memory is preferentially impaired. Patients may be rendered capable of only performing the most habitual tasks. Memory loss leads to confabulation, which becomes less prominent over time. The invented memories fill gaps left by memory loss, and patients believe in the authenticity of the memories. It is thought that these effects on memory are due to irreversible damage to the diencephalic-hippocampal circuits.
Thiamine information
Thiamine is mainly derived from foods such as brown rice, cereals, and pork.47 Rice is a predominant part of the diet in about two-thirds of the world’s population. A prime example of unbalanced nutrition is a diet consisting primarily of polished white rice. Because of removal of the husk through milling, polished white rice lacks thiamine.13 The incidence of beriberi in Asian countries has decreased since the initiation of thiamine fortification in their food.
Thiamine is absorbed in the small intestine, via an active, carrier-mediated, and rate-limited mechanism, with highest absorption capacity in the duodenum.30,57 In healthy subjects, the maximal amount of thiamine absorption from a single oral administration is approximately 4.5 mg.56 After uptake by the brush border, thiamine is exported out of the enterocyte via the basolateral membrane.55 Most thiamine is protein-bound within the plasma for transport to the tissues.
Humans are incapable of de novo thiamine synthesis and, therefore, require dietary supplementation. The human body can store 30–50 mg of thiamine,7 mainly in the skeletal and cardiac muscle, liver, kidneys, and brain.40 The dietary thiamine requirement is 0.5 mg for every 1000 kcal consumed or about 1.4 mg per day in a person with a typical diet.6 Thiamine deficiency leads to brain lesions within two to three weeks, as body stores of thiamine are only sufficient for 18 days.
Driving Rules - Restriction in Epilepsy/MI
Blackouts, Epilepsy:
- Inform DVLA and stop driving
- Insurance lost if driving before DVLA rules what to do
- Groups 1 license: No driving 12 months from first seizure if no recurrence
- Group 2, HGV license: No driving for 5 yrs - for 10 yrs without medications/ seizures.
Post MI:
1 wk - if PCI done successfully
1 month - if no PCI done
6 month for - group 2 licence
Alcohol Unit Chart
1 unit of Alcohol is: the amount of alcohol a person can clear from body in 1 Hour.
= 10 ml or 8 Gram of pure alcohol
= 25 ml of spirits (single shot)
= Half Pint of 4% Beer (284ml)
= 125 ml of 12% wines is 1..5 units
=
Calories in alcohol: 7 Kcal/Gram
175 ml of 12% wine = 133 Kcal
50 ml of 40% Gin = 95 Kcal
Pint of 5% Beer = 239 Kcal
1 Pint is = 568.261 ml
1 Pint is = 19.215 Ounce
1 US Gallon - 3.78 Liter
1 US Tea Spoon = 4.92 ml
Various Types of Alohol Drinks
Lager >5.2%
Cider > 5.2%
Alcopop > 5%
Bitter > 5 %
Wine, White > 13%
Wine, Red, Rose >12.5%
PIMMS >25%
Cognanc > 40%
Double Whisky > 40%
Gin and Tonic > 40%
Sambuca Shot > 40%
Cosmopolitan Cocktail > 40%
Situations to break patient confidentiality: ABCD POINT
A= Abortions, inform CMO
B= Birth to register
C= Court or police request
D= Drug addictions
P= Public interest, Partner Harm
O= Organ Transplant
I= IVF Treatment
N= Notifiable diseases
T= Terrorist act or Related suspect
Refusing to STOP driving -
tell first, try to convince
then meet with consultant
then inform in writing
then inform DVLA finally
Refusing to inform GP
- do not inform his GP
- STI clinic can release if pt consented
- encourage the patient to tell GP himself
-
Criteria for Advcanced Directive
2W-2S-CVA
- Written
- Witnessed
- Specific wish
- Signed
- Continuously valid till changed/cancel
- Voluntary (without any corecion)
- Aged > 18 yrs when made
Explaining any Procedure
- Explain procedure itself
= Before hot o prepare: fasting
= During, How-Long, WhoDoIt
= After-Recovery-Where-How long stay - Explain benefits of this procedure
- Explain Risks - common, uncommon
= Bleeding
= Pain
= Injury
= Infection - Explain about the consent, Legal issue
Paramyotonia congenita
= It is a congenital disorder of muscle weakness and myotonia, induced by cold and aggravated with continued activity. The patients develop prolonged myotonia or weakness in a localized group of muscles, which is not associated with the change in serum potassium level.
= It mainly affects eyelids, neck, and upper limb muscles. Patients characteristically present in their childhood complaining of inability to open their eyes following rapid, forceful successive closures. Weakness and myotonia last for minutes to hours. Even after the immediate rewarding of the muscles, cold-induced weakness usually persists for several hours.
= The disease is non-progressive, does not cause muscle wasting or hypertrophy. It is caused by mutations in the sodium channel gene SCN4A that codes for the alpha-subunit of the skeletal muscle sodium channels, i.e., voltage sensor domain.
= Patients usually live a normal life and do not affect longevity. The serum potassium level is moderately elevated. = EMG taken during cooling of a muscle shows profuse myotonic discharges and reduced CAMP amplitudes. The mainstay of therapy is an avoidance of cold exposure and physical overactivity.
Chronic Hypokalemia
Diuretics use
Type IV renal tubular acidosis
Hyperaldosteronism
Hyperglucocorticoidism
Gitelman syndrome
Bartter syndrome
Liddle syndrome
Distal Myopathies
The distal myopathies are caused by deficiency or lack of specific proteins that play an essential role in the proper function and health of muscle cells. Laing distal myopathy is caused by mutations in the beta cardiac myosin (MYH7) gene located on the long arm (q) of chromosome 14 (14q12).
Welander distal myopathy
Tibial muscular dystrophy
Markesberry Griggs distal myopathy
Laing distal myopathy
Nonaka distal myopathy
Miyashi distal myopathy
Myofibrillar distal myopathy
Limb Girdle Muscular dystrophy
Hereditary, Autosomal dominant form and recessive form both types
Axial muscular weakness
proximal weakness(Gower sign)
Cardiomyopathy, conduction blocks
EMG - myopathic
NCV - normal
Rise in CK, 4-25 times
Calf hypertrophy seen
Tight heel cords
Cataracts early
Rigid spine may be noted
Lambert Eaten Myasthenic syndrome
Lower limb girdle weakness unlike MG
Malignancy association - Small cell Ca
Anti-Presynaptic CaChannel antibodies
EMG shows 2nd wind phenomenon on repetitive stimulation (improves)
Poor DTRS becomes brisk after some exercise
Refsum disease
Accumulation of Phytanic acid
mechanism: Defective oxidation of branched chain FA(phytanic acid) which rises in serum and urine
Onset - Late childhood
Progression - slow progressive sensory motor hypertrophic neuropathy (demyelinating, remyelinating and hyertrophy) thickened nerves
= Anosmia
= Cerebellar ataxia
= Sensory neural deafness
= Cataracts early
= Retinitis pigmentosa association
= Night blindness occurs, Tunnel vision
= Skin icthyosis
= Short 4th finger both hands
= Syndactyly (fused fingers)
Rx = Diet free of phytanic acid Plasma exchange, Dialysis,
Phytanic acid is found in-Dairy, Beef, Lamb, Fish etc
Arginine Vasopressin, ADH
Arginin-Vasopressin Test:
Antidiuretic hormone (ADH), also called arginine vasopressin (AVP), is a hormone that helps regulate water balance in the body by controlling the amount of water the kidneys reabsorb while they are filtering wastes out of the blood. This test measures the amount of ADH in the blood.
Orthostatic Hypotension
non Neurogenic causes:
= Cardiac failure, DCM
= Dehydration, reduced volume
= Adrenal insufficiency, reduced tone
= Hypoaldosteronism
= Hypokalemia
= Venous Pooling: Alcohol, Post Meal, During exercise, Heat, Sepsis
= Drugs: Nitrates, Diuretics, Anti BP, Alfa blockers (Omnic), Beta blockers, TCA, sedatives, Phenothiazines
Mitochondrial Myopathies
Kearns Sayre syndrome:
- mutation in mitochondrial DNA
- onset less than 20 yrs of age
- progressive external ophthalmoplegia
- Retinitis pigmentosa, tunnel vision, Night blindness
- Diabetes mellitus some times
- Complete Heart Block
- CSF proteins > 1 Grams
- Cerebellar ataxia
- Delayed puberty, short stature,
- Infertility
Other MM’s:
= Chronic Progressive Ext. ophthalmoplegia CPEO
= MERRF (Myoclonic epilepsy, ragged red fibers)
= MELAS (mitochondrial encephalopathy, Lactic acidosis, Stroke like episodes)
= ARCO (Autosomal Recessive Cardiomyopathy + Ophthalmoplegia)
= ARCO
Muscular Dystrophies
Progressive & hereditary
- Duchenne muscular Dystrophy: XR, dystrophin gene, starts < 5 yrs of age, Proximal myopathy, Cardiomyopathy, mental retardation (High CK)
- Becker MD: XR, dystrophin, appears > 15 yrs, Girdle weakness, Cardiomyopathy, (High CK)
- Limb Girdle MD: AD/ AR, early childhood, shoulder+Hip myopathy, Cardiomyopathy,
- Emery-Dreifuss: XR/ AD, Emenin or Lamin gene, childhood to adult onset, Elbow contractures, Humeral weakness, peroneal weakness, cardiomyopathy
- Congenital: AR, at birth or early, Hypotonia
- Myoclonic dystrophy, Type 1&2, CTG repeat, Myotonia, AD, anticipation, cataracts, Arrhythmias, foot drop
- Fascio-Scapulo-Humeral MD: AD
- Oculo-pharyngeal dystrophy
Oral Combined Contraceptive Pills
Microgynon/ Mervelon/ Yasmin
Logynon
Microgynon ED
combines Estrogen & progestogen
To be taken - 21 days then off 7 days
Side effects: mood swings, nausea, breast tenderness and headaches –usually settle down in a few months.
There is no evidence that the pill will make you gain weight. very low risk blood clots & cervical cancer.
= The pill is not suitable if over 35 & smoke, or if you have certain medical conditions.
= does not protect against STI, so use a condom as well.
= There may be a link between the pill and depression.
= The pill prevents the ovaries from releasing an egg each month (ovulation) and thickens the mucus in endometrium.
Monophasic 21-day pills = most common type. Microgynon, Marvelon and Yasmin
Phasic 21-day pills = contain 2 or 3 sections of different coloured pills in a pack. Each section contains a different amount of hormones. 21/7 off pattern. Phasic pills need to be taken in the right order. Logynon is an example.
Every day (ED) pills = There are 21 active pills and 7 inactive (dummy) pills in a pack. The two types of pill look different. Every day pills in the right order.
Microgynon ED is an example
OC Pill Tips
Starting on the 1st day of your period
If you start the combined pill on the 1st day of your period (day 1 of your menstrual cycle) you will be protected from pregnancy straight away. You will not need additional contraception.
Starting on the 5th day of your cycle or before
If you start the pill on the 5th day of your period or before, you will still be protected from pregnancy straight away.
tarting after the 5th day of your cycle
You will not be protected from pregnancy straight away and will need additional contraception until you have taken the pill for 7 days.
f you vomit within 3 hours of taking the combined pill, it may not have been fully absorbed into your bloodstream. Take another pill straight away and the next pill at your usual time.
If you continue to be sick, keep using another form of contraception until you’ve taken the pill again for 7 days without vomiting. Very severe diarrhoea (6 to 8 watery poos in 24 hours) may also mean that the pill does not work properly. Keep taking your pill as normal, but use additional contraception, such as condoms, while you have diarrhoea and for 2 days after recovering.
OC Pill Contra-indications
The pill may not be right for you if you:
= are pregnant
= smoke and are 35 or older
= stopped smoking less than a year ago and are > 35
= are very overweight
= take certain medicines
Past H/o:
= blood clots in a vein, for example in your leg or lungs
= stroke or any other disease that narrows the arteries
= close family having a blood clot under the age of 45
= a heart disease, including high blood pressure
= severe migraines, especially with aura
= breast cancer
= disease of the gallbladder or liver
= Diabetes with complications or > for the past 20 years
OC Pill and other medications
Antibiotics: = Rifampicin and rifabutin can reduce the effectiveness of the combined pill. Other antibiotics do not have this effect.
Epilepsy and HIV medicines, and St John’s wort: =
Enzyme inducers speed up the breakdown of hormones by your liver, reducing the effectiveness of the pill.
Examples of enzyme inducers are:
= Carbamazepine,
= Oxcarbazepine, phenytoin, phenobarbital,
= Primidone and Topiramate
St John’s wort (a herbal remedy)
HAART
Haemoptysis
= Bronchial Carcinoma
= Lung cancer- Small cell, Adeno, Squamose
= TB infection, Pneumonia, Fungal
= Vasculitis - Wegner’s, Goodpasture syndrome
= Pulmonary embolism, LVF
= Sarcoidosis
= AV malformations
Respiratory manifestations of Rheumatoid Arthritis
= pleural effusion
= Pleural nodules
= Interstitial Lung disease
= Pneumonitis
= Pulmonary bleeding
= Caplan syndrome
= Bronchiectasis
= Bronchiolitis obliterans
= Pulmonary Hypertension
= Pulmonary vasculitis
= Drug induced ILD as with Gold and Methotrxate
Causes of Pulmonary Fibrosis
Rheumatological diseases
Connective tissue disorders
Drugs - Gold, Methotrexate, etc
Extrinsic Allergic alveolitis
Granulomatous diseases: TB, Sarcoid
Industrial dust disease - asbestosis, Cola pneumoconio
Post radiation therapy
Cryptogenic fibrosing alveolitis
Drugs Causing Pulmonary Fibrosis
Gold injections
Methotrexate
Amiodarone
Belomycin
Nitrofurantoin
Sulfasalazine
Clues for ESRD causes
DM - fingerprick marks, Lipodystrophy at insulin site, retinopathy (poor vision, fundus angiogenesis), foot ulcers, amputations
HTN - Blood pressure, Medication list
Vasculitis: Skin lesions, Purpuric rach, Rheumatological findings
Polycystic Kidneys: Ballotable kidneys, transplant kidney, AV fistula,, Nephrectomy scars, Hearing aid with Alport’s syndrome
Tuberous sclerosis: Adenoma sebaceum, Sub-ungual fibroba, shagreen patches, Ash Leaf macules, Epileptic
Membrano-proliferative Glomerulonephritis: Lipodystrophy of face/ trunk/ arms
Uremia Signs
common: nausea, vomiting, fatigue, anorexia, weight loss, muscle cramps,
= Altered mental status
= Uremic frost: skin hue
= Pruritus with excoriations
= Pericarditis and pericardial rub
= Asterixis, (metabolic encephalopathy)
Blood urea levels can be lowered by consuming less protein and avoiding products that contain creatinine. Carrots and potatoes, for example, help to alkalize urine and lessen the effects of high blood urea levels. Cinnamon, lemon, red bell pepper, turmeric, and other healthy foods can also be used to lower the BUN.
= Petechiae, bruise due to low platelets
= Tachypnea due to Acidosis,
Drugs causing Cholestasis
Phenothiazines
Penicillins, Augmentin
Rifampicin
Macrolides as Klacid
Sulfonamides
Cabamazepine
Synthetic androgens: Menabol
Diclofenac
Secondary Haemochromoatosis
conditions requiring multiple transfusions such as:
= Thalassemia major
= Sickle cell disease
= Refractory anemias
Porphyria cutanea tarda
Chronic lymphocytis leukemia
HCV
Iron transfusions
african hemosiderosis
Acquired Hemolytic anemia
Hyposplenism
Can be functional with Sicklers or after removal of spleen
Sickle cell disease with chronic spleen damage
Vasculitic syndromes
Splenic artery thrombosis
Infiltratinve: Sarcoidosis, Amyloidosis
Coeliac disease
Auto-immune diseases
AKI: Staging Criteria
Stage 01: creatinine increases by 1.5 to 2 times of baseline or by 0.3 mg/dl
Urine output drop less than 0.5 ml/kg/Hr for at least last 6 Hrs.
Stage 02: Increased creatinine by 2-3 times above baseline. Urine < 0.5 ml/kg/Hr for last 24 hrs.
Stage 03: Increased creatinine > 3 times above baseline or > 4 mg/dl with an acute rise of 0.5 mg/dl at least from baseline. Urine Output less than 0.3 ml/Kg/Hr for last 24 Hrs
Green Urine causes
Propofol therapy
Amitryptiline
Indomethacine
Promethazine
Dysphagia causes
Neurologica Dysphagia:
= Bulbar Palsy
= Lateral medullary/PICA syndrome
= Myasthenia syndrome
= Syringomyelia
= Oculo-pharyngeal dystrophy
Malignancy:
= Ca esophagus
= Pharyngeal carcinoma
= Gastric carcinoma
= Extrinsic pressure by thyroid/ thymus
= Lung carcinoma
= Lymph node pressing on it
Other Dysphagia:
= Benign strictures
= Pharyngeal Pouch
= Achalasia
= Systemic Sclerosis/ CREST
= Esophagitis
= Iron deficiency (Plummer Vinson Esophageal Web)
Familial Adenomatous Polyposis
cause of 1% colorectal cancer (other causes are: Sporadic 95%, HNPCC)
Autosomal dominant
100’s of polyp[s by age 30-40 yrs
APC gene mutation, loss of function of Tumor suppressor gene
Located on chromosome 5
Needs WBC DNA analysis
Rx - Total colectomy with Ileoanal pouch
Risk of duodenal tumors
Variations: Gardner syndrome, Turcot’s syndrome.
Gardner Syndrome, variation of FAP
a variation of familial adenomatous polyposis
Autosomal Dominant
Polyps in colon and extra-intestinal features as:
= Desmoid tumors
= Sebaceous cysts
= Lipomas
= Osteoma’s
= Supermammary teeth
Risk of colon cancers
Total colectomy required
Turcot’s syndrome, variation of FAP
a variation of familial adenomatous polyposis with young age Ca colon risk
Needs early total colectomy
Autosomal dominant
other features:
= Medulloblastoma may occur
Lynch Syndrome: HNPCC
Hereditary Non-Polyposis ColoRectal cancer (HNPCC), nonpolyps
Autosomal dominant
High penetration, 1-3% Ca colon chance
Highly aggressive cancer
Other associated tumors possible:
= Ovarian tumor
= Stomach cancers
= Liver - GB tumors
= Urogenital cancers
= Small colon cancers
Amsterdam Criteria for Diagnosis:
> 3 relatives with Ca colorectum, 1 first degree
At least 2 generations of ca colon
1 or more cancers before age of 50
Genes: MSH2 (60%), MSH 1 (30%)
Alfa 1 Anti-trypsin Deficiency
Autosomal dominant
its a anti-neutrophil elastase produced normally by hepatocytes
Levels > 11 mmols (protective) < 9 deficient
Phenotypes: M (medium) S (slow) Z (very slow),
Defect alters the molecules which is not released from liver cells
Effects:
1. Lung tissue destruction by neutrophil elastase as it is not neutralized, COPD
2. Chronic lung disease occurs as cirrhosis
smoking accelerated disease by 10 yrs
Rx: Stop Smoking, Manage COPD/ CLD
Avoid toxic drugs for Liver
AT replacement
Lung/Liver transplant
GI Causes of clubbing
Chronic Liver disease
IBD, UC, Crohns disease
Coeliac disease + malnutrition
GI Lymphoma
Tropical sprue
Whipple disease
Maddrey’s Discriminant Function
used to assess severity of alcoholic hepatitis
MDF = 4.6 x ( Patient PT - Control PT) + Total Bilirubin/ 17
if > 32 = 50% mortality at 30 days
PT = prothrombin time
TrueLove-Witt’s criteria for Colitis
Bloody stools > 6 in 24 Hrs
and
Hb < 10.5 gm%
ESR > 30 mm at 1 Hr
Pulse > 90/min
Temperature > 37.5 c
Liver disease in Pregnancy
Unrelated:
= Thrombophillia - Budd chairi syn.
= Fulminant Hepatitis E
Related:
= Obstetric cholestasis: in 1/2 trimester with pruritus, USG Liver normal, start Urso-deoxy-cholic acid
= Acute Fatty Liver of Pregnancy: Life threatening in 3rd trimester, High Liver enzymes, Rx delivery + supportive
= HELLP syndrome: Hemolysis + Elevated Liver enzymes + Low Platelets - similar to above AFLP but mild.
Nausea, RUQ pain, Jaundice, Emesis
Rx by delivery and manage - pre-eclamsia, convulsions, DIC,
Alcohol Excess complications
- chronic Liver disease, Cirrhosis
- Dyspepsia, peptic ulcers
- Pancreatitis
- HTN, Cardiomyopathy
- Withdrawal Seizures (delirium tremens)
- Psychiatric disease
- Wernicke’s or Korsakoff’s
- Social difficulties
- Increased risk of malignancies: Oropharyngeal, Laryngeal, Esophageal, Liver, Breast
Approach: Rx of Autoimmunes
Education and counseling
Multidisciplinary team management
Acute presentation:
= Plasma pheresis to remove antibodies
= IV IG injections
= Supportive
Between attacks:
= Corticosteroids except in Psoriasis or Myasthenia as exacerbates
CST sparing agents: Azathioprine (check MPTP activity first), Methotrexate, HCQ etc
Biologicals: Infliximab (anti TNF), Rituximab (Anti CD20)
Hypo-pituitarism
Pituitary adenoma will cause: Cavernous sinus compression - Hypothalamic comopression - Hydrocephalus as blocked foramen of monroe - Hormonal deficiencies - visual field defects (Bitemporal or binasal hemoanopia)
= Low TSH: 2ry Hypothyroidism, wt gain, Hoarse voice, Hard stools, Menorrhagis, Hot preference, slowness of thought
= Low ACTH: pale white skin, smooth contour, wt loss, Low BP
= Low GH: Cretinism in kids, Poor bone or muscle mass in adults
= Low FSH, LH:
in Men: Loss of libido, Loss of facial, axillary, pubic hairs, Erectile dysfunction, infertility
in women: amenorrhea, infertility, Hot flushes
= Low Pralactin: no lactation after delivery
Obesity Management
Risks to explain: Cardiovascular, OSA, GERD, GB stones, Diabetes mellitus, risk of GI/Uterine/ Breast cancers
Enroll in weight loss program
Dietician consultation
Physiotherapy-Exercise regime
Medications:
Orlistat - lipase inhibitor
Sibutramine: if wt loss at least 5% at 3 months - give for 2 yrs
Bariatic surgery, Gastrectomy if BMI > 40 - might cure DM/ HTN/ OSA
Causes of Hypocalcemia in Adults
= Vitamin D deficiency
= Hypo-parathyroidism (Sx, Autoimm)
= Pancreatitis, acute or chronic
= Renal failure
= Acute Hyper-phosphatemia
= Hyper-calciuric hypocalcemia + kidney stones (Autosomal dominant)
= Pseudo-Hypo-parathyroidism, 1a, 1b
= Hypomagnesemia
= Drugs: Cisplatin, Foscarnet, Biphosphonates
Pseudo-Hypo-parathyroidism
Albright’s Hereditary Osteodrystrophy
Type 1a = clinical features + skeletal abnormalities
Type 1b = end organ PTH resistance without skeletal abnormalities
Pseudo-Pseudo-HypoPTH: = in first degree relatives: only skeletal abnormalities but NO PTH resistance
Clinically: Short stature, Round facies, Short 4th metacarpal as knuckle absent of both hands,
Short or absent distal thumb phalanx absent - short stubby thumb with cutaneous calcinosis called - Murderer’s thumb
Obesity if common (high BMI)
cutaneous calcifications as in SS
Associtations:
= Signs of Hypocalcemia: Chvostek or Trousseu signs, tetany, spasms, QTc
= Hypothyroidism features
Asthma Severity
Acute severe asthma:
- PEFR 33-50% of best/predicted
- Respiratory rate > 25/min
- Pulse > 110/min
- cannot complete sentence in one breath
Life threatening asthma:
- PEFR < 33% of best/ predicted
- SpO2< 92%
- PaO2 < 8 kPa
- normal PaCO2 (should be low)
- altered sensorium, Fatigue, Exhaustion, Arrhythmias, Hypotension, Cyanosis, Silent chest, poor effort
MRC Dyspnea scale
- No breathlessness except on strenuous exercise
- Short of breath when walking up a short hill in a hurry
- Walks slower than contemporaries on level ground because of breathlessness or has to stop for breath if walking at his own pace
- Stops for breath after walking about 100 meters or after few minutes on level ground.
- To breathless to leave the house
LTOT assessment for
- severe outflow obstruction, FEV1<30%
- Cyanosis
- Polycythemia
- Peripheral edema
- Raised JVP
- SpO2 < 92% at room air
Pituitary Failure Causes
Mass: Adenoma, Craniopharyngioma, Cysts, Metastasis
Surgery or Radiotherapy
Infiltrative: Sarcoid, Haemochromatosis, Histiocytosis X
Lymphocytic Hypophysitis: in Late pregnancy, Postpartum
Infarction - Sheehan syndrome, Postpartum Haemorrhage + Hypovomemia
Apoplexy: Sudden haemorrhage in pituitary gland
Empty Sella syndrome
Trauma, Sub Arachnoid Haemorrhage
Pituitary information:
pituitary means phlegm like from early belief that it caused phlegm to produce
Sella turcica means turkish saddle it looks like.
= Primary empty sella syndrome is not with hypo-pituitarism.
= As a general rule, in progressive pituitary disease, secretion of GH (growth hormone) & gonadotropin is affected before that of ACTH, TSH - hence loss of bone & muscle mass, hair
loss occurs first.
= Pituitary ACTH deficiency doesnot cause salt wasting , (low Na, High K and hypovolemia) because mineralo-corticoids are maintained through RAA system but glucocorticoids deficiency adds to hypotension.
Pituitary Surgery Preparation
Pre-Op:
Baseline check visual fields,
Baseline Labs: TFT, Prolactin, Estradiol, FSH, LH, Morning cortisol
Day of Surgery:
Start IV Hydrocortisone 200 mg
Post Op:
Oral steroid 72 Hrs after surgery
Watch for DI (High urine volume, High Sr Osmolality, Low Urine Osmolality means dilute. Rx - Desmopressin Nasal
On Discharge:
Medic alert bracelet to give, says on CST
Steroid Card to give, mentions doses
After 3-4 weeks: Do Pituitary Stimulation Tests
Free T4 replacement if low as TSH may be Normal.
Tumors causing Gynaecomastia
- Testicular tumors:
= Germ Cell Origin: secrets HCG, 5%
= Leydig cell tumor: cause precocious puberty 20%
= Sertoli Cell tumors: with Peutz-Jegher syndrome or alone - excess adrogen production + conversion to Estrogen - Adreno-cortical Tumors: High adrogens secretions converted to estrogens with effects
- Ectopic HCG Tumors: Ca Lung,/ Stomach/ Kidneys/ HCC
- Post Chemo or radiotherapy for tumors of gonads.
Drugs causing Gynaecomastia
Anti-androgens: Cyproteron, Finasteride, Dutasteride
GI drugs: Ranitidine
Cancer chemodrugs: Vinca alkaloids, Imatinib, Ciclosporin
CVS Drugs: Digoxin, Spironolactone - dissociated estrogen from Sex-Hormone binding globulin. Amiodarone, Methyl DOPA.
Anti-Microbial Drugs: INH, Ketoconazole, Metronidazole, HAART therapy
Neuro Drugs: TCA, Phenothiazines, Metoclopramide, Opiates
Oral Drugs for Diabetes mellitus
Secrateogogues: stimulates insulin release
1. Sulfonyl Ureas: Glipizine, Gliclazide, Glimipiride, Chlorpropamide, Tolbutamide
2. Megalitinide analoguea: Natilidine, Repaglinide
Insulin Sensitizers:
1. Biguanindes: Metformin
2. Thiazolidinones: Rosiglitazone, Pioglitazone
Slowing Digestion: alfa Glucosidase inhibitors: Acarbose, Miglitol
GLP-1 analogues: Exenatidine
DPP-4 inhibitors: Sitagliptin, Vildagliptin
Sodium-Glucose transporter-2 (SGLT-2) inhibitors: canagliflozin, dapagliflozin, and empagliflozin
Dopamine agonists: Bromocriptine (cycloset) but can cause lung fibrosis.
Work up for Cushing’s Disease
General: Baseline sugar level, Cortisol, ACTH, Bone density scan, K levels
Specific:
= Adrenal, Pituitary MRI
= 24 Hr urinary cortisol
= Midnight serum cortisol
= Overnight Dexa suppression Test: 1 mg dexa given at 11pm and cortisol checked next day at 8 am.
= Low Dose Dexa suppression: 0.5 mg dexa every 6 Hrly for 48 Hrs and then cortisol levels checked
= High Dose Dexa Suppression: 2 mg dexa every 6 Hrly for 48 Hrs then check cortisol levels
= CRH (corticotropin releasing Hormone) Test: corticotropine is given after low dose dexa suppression
= Inferior petrosal sinus ACTH sample versus peripheral ACTH level.
Pseudo-Cushing’s Syndrome
Cushingoid features due to excess cortisol, obesity, moon face, central obesity BUT
= No proximal myopathy features.
= No skin manifestations like purpura, bruising, striae etc
seen with:
= Depression
= Alcoholism
= Morbid obesity, Pickwickian
= Chronic infections
