Monday, July 24, 2017

Steven-Johnson syndrome (SJS) / Toxic epidermal necrolysis (TEN) -Part 1

Hello! :)


-A severe form of adverse cutaneous drug reaction
-Idiosyncratic reaction
-Immunologically Mediated
- Fever and mucocutaneous lesions
-Epidermal sloughing


1. SJS= <10% BSA detachment
2. OVERLAPPING SJS/TEN= 10-30% detachment
3. TEN = >30% detachment


-Both are rare but occur as a medical emergency.
-Incidence of SJS 1-7 Cases per million.
-SJS > TEN by 3: 1
-TEN tend to be older
-Worldwide distribution
-HIV positive cases have increased incidence.


-Drugs being the most common cause
-Infection (viral e.g. HSV, bacterial, fungi)
-systemic disease (lupus)
-Physical agents (UV light, radiation)
-Idiopathic 25%

Drugs that result in this are:-

-Antibiotics = sulfonamides > penicillin > cephalosporin
-Anti-gout: allopurinol
-Anti-epileptics; carbamazepine, Dilantin
-Analgesic including NSAIDS


-HLA-B*1502 associated with greater risk with carbamazepine use in southeastern Asians.
-HLA-B*5801 confers risk with allopurinol associated reactions.
-HLA-B*44 Caucasians

-Slow acetylators so results in prolonged exposure to medications.
-Immune dysregulation
-Other infections
-40 Fold increased risk of SJS/TEN with cotrimoxazole (Remember! It is used as a prophylactic drug in HIV patients.)

-Drug exposure 1-3 weeks prior to onset of symptoms
-PRODROME=fever, flu-like, 1-3 days
-symmetrical lesion distribution
-starts on face and trunk before spreading
-skin blistering with sloughing for 2-3 days progressively then stabilizes
-Facial edema
-Skin pain- burning
-Palpable purpura
-Skin necrosis (Nikolsky sign)
-Blisters or epidermal detachment
-SJS tragetoid, TEN target lesions atypical
-Mucous membrane erosions or crusting
-tongue swelling
-conjuctival irritation
-GI bleed
-Pulmonary bleed


-Neutropenia (poor prognosis)
-Elevated transaminases
-Cultures, If infected
-Skin biopsy-Rule out other conditions
-BUN/CR ratio
-Serum electrolytes


-not well understood
-Suspected immunologic
1. GRANULYSIN: Cytolytic protein from cytotoxic T-cell and NK - cells
(Highly expressed in SJS /TEN patients)
2. DEATH RECEPTOR CD95 (fas): Elevated fas ligand leading to apoptosis
3. Perforin, TNF-alpha and granzymes-B in higher concentration, associated with NON-APOPTOTIC death.

-Early perivascular inflammation of T-lymphocytes, primarily CD8
-Monocytes infiltration
-Lymphocytes surrounding basal keratinocytes
-Subepidermal vesiculation
-Full thickness necrosis
-Increased adhesion molecules: VCAM, ICAM

-Clinical diagnosis on the basis on exclusion
-prior drug history or illness+fever+skin lesions with sloughing

-toxic shock syndrome (staphylococcus and streptococcus)
-Scalded skin syndrome (staphylococcus)
-Phototoxic eruptions (Sun exposure areas and known medications)
-Paraneoplastic pemphigus (Lymphoma)
-Erythematous drug eruptions (Lack mucosal involvement)
-Drug hypersensitivity syndrome /DRESS/DIHS (eosinophilia)
-Acute generalized exanthematous pustulosis (AGEP) (lack of pain and noted pustules)
-Toxic skin reaction (chemical irritant)
-Toxic erythema (Intoxication)
-Kawasaki's (diagnostic criteria)


-targeted papules and plaques
-Acrally distributed
-Fever mild
-Significant skin detachment uncommon
-Histology: inflammation EMM>SJS


-Immediate removal of possible triggers (especially drugs with longer half-life)

 - Wound care: burn unit with improved outcomes
 *avoid silver sulfadizine (Sulfonamide associated with SJS)
 -Fluid and electrolyte management (RL or NS)
 -Pain control (Local anesthetic cream)
 -Temperature regulation: caloric expenditure 
 -Monitor for infection: pseudomonas
 -Nutrition (High protein diet, Banana) (I will discuss it in next post)
 -Ocular care (Important)

 You can also refer this link 

That's all for today.
I will discuss tomorrow the case we have seen in the emergency ward on the same. And also the treatment aspect. 

-Upasana Y. :)

Myopathies series - Part 4

Hello! :)

In previous post, I left you with a question

How do we identify the site and cause of lesion?

Important points in history and neurological examination that is suggestive of myopathy are:-


According to Taber's medical dictionary, Lacking physical strength or vigor; infirm especially as compared with what would be the normal or usual for that individual.

Most muscle diseases produces symmetrical weakness of the large muscles of the girdles and trunk.

- Difficulty in getting up from squatting position or from low chair,
-Inability to climb stairs,
-Waddling gait.

- Difficulty in hanging clothes on a cloth line
-Difficulty in taking down item from high shelves.

-Difficulty in turning in bed and getting up from recumbent position.

-Inability to control neck while in a vehicle as it rapidly accelerates and decelerates.
-neck pain and stiffness.

-Inability to close eyes fully.
-Difficulty in drinking with a straw.

2. OCCULAR WEAKNESS:- (I will explain this below in bit detail )
-extraoccular movement weakness are seen.

-Difficulty in opening lids of jar
-turning keys in keyholes

-tend to trip on uneven ground with repeated falls.



According to Taber's medical dictionary, the condition of an organ or tissue in which its response to stimulation is reduced or lost as a result of over activity.

Abnormal fatigability after exercise can result from certain metabolic and mitochondrial myopathies.

And as I have already discussed the importance of duration and intensity of exercise that provokes fatigue. It helps to distinguish metabolic myopathies.

-Episodic= metabolic myopathies

-Constant=inflammatory muscle disorders




- Why? As caused by the excessive release of myoglobin from muscles during periods of rapid muscles destruction (rhabdomyolysis)
-Results in renal failure in severe cases.
-Patient complains of exercise induced myalgia then ask about "Cola colored" or "red colored” urine during this episodes. 

That's all for today.
I hope it helped.
In next post I will continue with the relation of age and progression to diagnose myopathy. 

-Upasana Y. :)

Emphysematous Cholecystitis

Hello guys! Here's a brief description about Emphysematous Cholecystitis.

What are the risk factors for Emphysematous Cholecystitis?

1. Diabetes Mellitus (Most Important)
2. Immunosuppresion
3. Vascular compromise (Obstruction & stenosis of Cystic artery).

Emphysematous Cholecystitis is a life-threatening form of Acute cholecystitis & caused due to infection of the gall bladder wall with Gas forming bacteria like: Clostridium welchi.
Gas forms in gall bladder wall with occasional detection of crepitation (that's why called Emphysematous).
Development of gangrene & perforation is common.
It is managed by Emergency cholecystectomy with broad spectrum antibiotics.

Thank you
MD Mobarak Hussain (Maahii)

How to study for USMLE Step 2 CK

If you are short of time, don't read this. Seriously, if you have 2-3 months to prepare - Just do UW, assessments and give the exam. You will do great!

If you have a good 6-12 months, you are just starting your prep and need honest advice, here is mine.

I haven't got my score yet, but the post has been requested before I even gave my exam. So here it is =) I wonder if my credibility changes after my result. Oh well, guess I'll never know.

Medicowesome secret project: Poem on recycling

Medicowesome secret project: Inspiration

Hello Medicowesomites! The secret projects are back!!!! Who is excited??? :D

As you all know, every month, we publish a few stories, pieces of art written by awesomites - which are unrelated to studies.

The theme for this month is - Inspiration.

Medicowesome secret project: Stalking the Future

Medicowesome secret project: The Ordeal

Pills of knowledge in Ophthalmology-Pupil and the third nerve palsy

The parasympathetic fibres passing along with the 3rd cranial nerve which supply the pupil lie towards the periphery of the nerve. Hence, surgical compressive lesions like tumors or aneurysms which compress the 3rd nerve end up involving the pupil as well.

In contrast, medical lesions like diabetis mellitus or hypertension affect the vasa nervosum which supply the nerve starting from its core.These rarely affect the pupil as the outer, peripheral fibres may remain relatively spared.

This however, is not a strict rule.This criterion can just be used for the primary evaluation of the possible lesion.

That's all!

Sunday, July 23, 2017

Triad of Retinitis pigmentosa mnemonic

The mnemonic for remembering the Triad of retinitis pigmentosa (RP) is BAD

1. B- jet Black spots which are perivascular.
2. A- Attenuation of arterioles.
3. D- Disc palor.

Thanks for reading.

Madhuri Reddy

Injury to spinal accessory nerve

Hello friends,

This post is about damage to spinal accessory nerve.

We know that this nerve in the neck first supplies sternocleidomastoid,then lies on levator scapulae to supply trapezius.

On excision biopsy for matted cervical lymph nodes,we may damage that part of nerve which is lying on levator scapulae.So, this may lead to paralysis of trapezius.

To find this:

Ask the patient to shruggle his shoulder,

To do overhead abduction of arm, and

See for winging of scapula at rest.

On paralysis, there will be difficulty in shruggling his shoulders , difficulty in overhead abduction of arm and winging of scapula at rest.

Winging of scapula is also seen in paralysis of serratus anterior but prominent on movement like pushing the wall, whereas in paralysis of trapezius, it's seen at rest.

Thanks for reading!

Madhuri Reddy (Madhu)

Myopathies series -Part 3

Hello! :)

In previous post, I discussed about metabolic myopathies.
Today we see the general classification of myopathies.

Myopathies are classified as



1. Denervation atrophy;-
-spinal muscular atrophy (infantile motor neuron disease)

2. Muscular dystrophies

a) Autosomal recessive Muscular dystrophy 
-Limb-girdle form

b) Autosomal dominant muscular dystrophy

c) Sex linked muscular dystrophy
-Emery Dreifuss

3. Myotonic dystrophy

4. Ion channel myopathies

5. Congenital myopathies

6. Myopathies associated with inborn errors of metabolism (This we have already studied in previous posts.)


1. Inflammatory myopathies

-systemic inflammatory disease (involves other organs also)

2. Toxic myopathies

-Thyrotoxic myopathy (There is an awesome post By Ojas )

-Ethanol myopathy
-Drug induced myopathy

So this means, we have long way to go: D

 "MOTOR ACTIVITY” is a broad term. It includes 
1) Voluntary movements 
2) Reflex movements
3) Rhythmic motor patterns

The pathway of any motor activity includes:

1. Cortical level
2. Brainstem and associated structures 
-Brainstem centers 
-Basal ganglia

3. Spinal cord
4. Lower motor neurons
5. Neuromuscular junction 
6. Muscle 

 Myopathy means we are discussing problem in MUSCLES.
So how do we know the correct site of lesion?

To diagnose any myopathy, we need to know its site and cause of lesion. The following helps in the diagnosis.
1. History
2. Examination
3. Investigations 

Take care.
-Upasana Y. :)

Brain Abscess - Important facts

Hello guys! Here are some important facts about Brain Abscess.

Most Common site: Frontal lobe

Sequence of involvement: Frontal lobe > Temporal lobe > Parietal Lobe > Occipital lobe.

Most Common site of Brain Abscess in Tetralogy of Fallot: Parietal Lobe.

Most Common site of Brain Abscess in CSOM: Temporal lobe (Mastoiditis).

Most Common organisms involved are Anaerobic bacteria > Staphylococcus aureus > Streptococcus pyogenes.

Empirical therapy: Vancomycin + Ceftriaxone + Metronidazole for 4 to 8 weeks.

I hope that it's helpful to you.
Thank you!

MD Mobarak Hussain (Maahii)

Granulomas and hematolymphoid malignancies

Granulomas are rare findings in a bone marrow of hematolymphoid malignancies. They are commoner with Hodgkin lymphoma and rarer with acute leukemias. They are most commonly non caesating epitheloid granulomas and may stain negative for tuberculosis and fungi! So, what are they really? They are believed to be a immune response to tumour antigens or to immune complexes when the patient is on treatment...
All granulomas need not be tubercular!

Saturday, July 22, 2017

Branches of subclavian artery mnemonic

Hello friends,

Today let's memorise the branches of subclavian artery.

The mnemonic is  VITamin 'C ' and 'D'

Here VIT corresponds to branches arising from first part. 

'C' from second part. 

'D' from third part  of subclavian artery.

So from first part:

V - Vertebral

 I - Internal thoracic artery

T - Thyrocervical trunk or Thyroscapulocervical trunk( this makes our task easy to memorize branches of this trunk)

Thyroscapulocervical - Gives  rise to 3 arteries:

Thyro -- Inferior thyroid artery

Scapul-- suprascapular artery

Cervical - superficial cervical artery.

From second part:

C - Costocervical trunk which gives rise to superior intercostal artery and deep cervical artery.

From third part:

D - Dorsal scapular artery.

Sometimes, instead of superficial cervical and dorsal scapular arteries arising as 2 separate arteries, there is a single branch which arises from 1 st part of subclavian artery that is Transverse cervical artery.

This artery divides into superficial ascending branch and deep descending branch as shown in the flow chart below.

Thanks for reading and do correct me if there is anything wrong.

Madhuri Reddy (Madhu)

Rash involving hands and feet mnemonic

This is the association I use to remember the organisms causing rash that includes hands and feet - You drive CARS with your hands and feet. 

CA- Coxsackie A virus
R- Rickettsia rickettsii 
S- Syphilis (secondary)
S - Staphylococcus (TSS) 

We often forget Toxic Shock Syndrome in our differential. Keep it in mind! 

That's all! 

Hypervitaminosis A mnemonic


Here's a mnemonic to remember the features of Hypervitaminosis A.

The mnemonic is, "H.A.R.D. Puzzle."
H - Hepatosplenomegaly, Hair sparse, Hyperostosis
A - Anemia, Anorexia
R - Really painful bones
D - Dry skin
Puzzle - Pseudotumor cerebri

Thank you.

MD Mobarak Hussain (Maahii)

Necrotizing Enterocolitis - Important points

Here are some high yield points about Necrotizing Enterocolitis.

1. It is the most common life threatening emergency of gastrointestinal tract in neonates.

2. Triad of - Intestinal ischemia, enteral nutrition and bacterial translocation.

3. Distal part of Ileum and proximal segment of colon are most frequently involved.

4. Coagulation necrosis is the characteristic histological finding in the intestinal specimens in Necrotizing Enterocolitis.

5. Pneumatosis intestinalis (air in the bowel) is diagnostic on X-ray.

6. Portal venous gas shadow is a sign of severe Necrotizing Enterocolitis on X-ray.

7. Most important risk factor is Prematurity.

8. Pneumoperitoneum is a sign of advanced NEC with perforation.

These points should help you in quick revision.

Thank you!

MD Mobarak Hussain (Maahii)

Lung Cancer Subtypes

Subtypes of lung cancer:-
1. Squamous cell cancer-
Most common variant in India.
Smoking is a risk factor.
Central in location.
Local growth is surgically resectable.
Cavity formation is seen.

2. Adenocarcinoma-
Most common variant of lung cancer overall.
Most common lung cancer among non smokers.
Peripheral in location.
Transbronchial spread i.e. it arises at one lobe and spreads to the another lobe.

3. Small cell carcinoma/Oat cell carcinoma-
Most aggressive variant.
Smoking is a risk factor.
Central  in location.
It exhibits micrometastasis.
It has worst prognosis.

4. Large cell carcinoma-
Observed in Non smokers.
Peripheral in location.
This is associated with Estrogen production which manifests as Gynecomastia.

I hope this will help you to distinguish between the various subtypes.

Thank you
-Md Mobarak Hussain (Maahii)

Friday, July 21, 2017

Oxalate stones in Crohn's Disease

A tricky Concept based question often asked in Medicine/Pathology MBBS Professional Exam-
Why Crohn's Disease patient often develop Kidney/Renal STONES, particularly OXALATE stones?


Here are some high yielding MCQ points on arrhythmia

Most common arrhythmia mechanism is re-entry.
Most common sustained arrhythmia is atrial fibrillation.
Most common benign rhythm identified is atrial premature contraction.
Most common arrhythmia in COPD patient is multifocal atrial tachycardia.
Post operative atrial fibrillation is managed with landiolol hydrochloride.
Atrial fibrillation getting converted to ventricular fibrillation is seen with accessory pathway conducting antegradely like Bundle of Kent in WPW syndrome.
VT storm or electrical storm is  3 or more separate episodes of VT within 24 hours.
Most commonly identified arrhythmia in cardiac arrest patient is ventricular fibrillation.
Most common cause of Sudden death in HCM is polymorphic VT/Ventricular fibrillation VF.

Thank you

-Md Mobarak Hussain (Maahii)

ERAS token, AAMC account, Letter of Recommendation

My juniors and colleagues requested that I guide them through this, so ta-da, another "How to" post.

I am attaching screenshots of the process - step by step. Sorry for all the scribbling. I was too bored to Photoshop.

Thursday, July 20, 2017

Viral Exanthems - Mnemonic

Mnemonic to remember the Viral Exanthems of childhood

ME gave ROSE to my BELLA after eating CHICKEN at 5 PM.

ME =MEasles
5 P= 5th disease (Parvovirus)

Thank you!
-Md Mobarak Hussain (Maahii)

Megaloblastic Anemia

1. Why do we get " Megaloblasts" in Megaloblastic anaemia?
2. Why we get anaemia in Megaloblastic anaemia?
Megaloblastic anaemia is called so due to presence of " Megaloblasts" in bone marrow.
What are " Megaloblasts" They're gigantic, abnormally BIG RBC-precursors seen in bone marrow. WHY do we see them ?
It needs some conceptual understanding.                           
Normally, RBC-precursors are big cells which divide rapidly as they mature & become progressively smaller as they divide while maturing towards mature-form of RBCs.  Now, the problem begins in Megaloblastic anaemia that this cell-division is impaired due to lack of nutrients ( Folate & Vitamin B12).  Vit B12 & Folate are critical for normal DNA synthesis & cell maturation.                                                             It's also described by a complex -term called " Nuclear-Cytoplasmic Asynchrony".
As DNA-synthesis is impaired, nuclear maturation of RBC-precursors get slowed up & could not match with the pace of cytoplasmic maturity/development. This DEFECTIVE NUCLEAR MATURATION halts cell-division & those big "MEGA" RBC-precursors remain as Big, MEGA, gigantic " Megaloblasts" in bone marrow giving the name as " Megaloblastic anaemia". Moreover, these " Megaloblasts" do NOT mature enough to get released into the peripheral blood & most RBC-precursors undergo " apoptosis " or apoptotic-death in bone marrow ..this  causes anaemia in Megaloblastic anaemia.

Hope this helps some of you to understand the basic concepts.

-Md Mobarak Hussain (Maahii)

Step 2 CK: Which Pneumococcal Vaccine to administer & when?

Monday, July 17, 2017

Brain to gut: Lets talk

Hey Awesomites

The brain and gut chat and share neurohumoral and immunologic messages with each other most of the times. That is why our emotions affect our stomach and intestines and vice versa. This healthy communication is disturbed when we are stressed out, anxious, or depressed.

Stress (more of psychological type) influences the type of bacteria inhabiting the gut, making a loss of our bowel flora diversification and increasing the concentration of harmful pathogens in the gut, thus leading to certain inflammatory and infectious processes.

Chronic flare - ups of inflammatory bowel disease result in deviation of the mood towards negative side by upto 60 percent by a process of rewiring the neuronal circuitary, called neuroplasticity. This inturn worsens the condition of gut on long-term basis.
Recent studies suggest that talk therapy - particularly cognitive behavioral therapy, and anti- depressants may be supportive in such cases to reduce the flaring up of inflammatory bowel syndrome.

In case of irritable bowel syndrome, that is a functional disorder ( without any actual organic cause ), the CBT and use of anti- depressants improve the symptoms in upto 60 percent patients. But which patients are likely to benefit still needs further research. Till then, we know that a referral for talk therapy in the patients of IBS is a must.

Thats all
- Jaskunwar Singh

Sunday, July 16, 2017

Favorites of brain cells: The game of genetics

Hey Awesomites

Many cells in the brain express two copies of a gene - maternal and paternal. But some express only one. If the single copy that is expressed carries a genetic mutation, it may result in cellular dysfunction and thus there are consequences.

Research on newborn mouse suggests that in about 85 percent of genes in the dorsal raphe nucleus, known for secreting serotonin, differentially activate their maternal and paternal gene copies. Ten days later in the juvenile brain, both copies are activated equally for all but 10 percent of genes.

The disparity also occurs in humans and in other systems like liver and muscles.

Like for example, in humans, a gene called DEAF1 that is implicated in autism and intellectual disability, shows a preferential expression of one copy of genes in multiple areas of brain. This is true for genes in other mental and neurologic disorders like Huntington's disease, schizophrenia, ADHD, and bipolar disorder.
Source )

Thats all
- Jaskunwar Singh

Novel Monoclonal Antibodies: Emicizumab and Caplacizumab


Patients with Haemophilia A need regular infusions of Factor VIII, and a majority of patients develop antibodies against this exogenous factor VIII rendering the therapy less effective.

Emicizumab is here to solve this problem. It mimics the physiological function of factor VIII, that is to enhance the interaction between activated factor IX and factor X to facilitate the activation of factor X. Emicizumab binds both factor IXa and factor X and increases the interaction between them.


Patients with Thrombotic Thrombocytopenic Purpura(TTP) has antibodies against ADAMTS13. Reduction of ADAMTS13 levels leads to formation of vWF multimers that enhance platelet aggregation and consequent thrombus formation in all major systemic blood vessels. The current therapy protocol consists of Plasma exchange and Immunosuppressants.

Caplacizumab binds to vWF and prevents its interaction with GP1b receptor on platelets, thereby inhibiting platelet aggregation.


Fact of the day: Liquid biopsy for cancer detection

Hey Awesomites

We have known since long that surgical biopsies done routinely in cancer patients to diagnose and detect progression of the disease may increase the risk of carcinogenic changes in the cells in future, due to the changes that had prompted the biopsies.

A non - invasive and painless diagnostic tool that replaces the cutting is "liquid biopsy" that finds the hidden cancer cells anywhere in the body. The liquid biopsy is taken from a simple blood test to look for microscopic pieces of DNA circulating in the blood that contains genetic mutations causing tumors to spread, among billions of other DNA that were in the blood.
A year ago, a circulating tumor DNA test was approved by FDA that spots these mutations.

Thats all
- Jaskunwar Singh

Saturday, July 15, 2017


Red blood cells

Also known as erythrocytes, is the most common type of blood cell and the principal means of oxygen transport in the body.

The normal biconcave shape is the essential feature of its biological function.
Through various stages of development and maturation, RBC loses its nucleus and most organelles in order to accommodate maximum space for haemoglobin.
This feature of RBC is critically affected by genetic and acquired pathological conditions.

Poikilocytosis is the term used to denote the variation in the shape of red blood cells.
Let's look at the major abnormalities in the shape of RBCs and the conditions in which they are seen:

1. Spherocyte - hereditary spherocytosis, autoimmune haemolytic anaemia, ABO haemolytic disease of the new born

2. Schistocyte - thalassemia, hereditary elliptocytosis, megaloblastic anaemia, iron deficiency anaemia and severe burns

3. Irregular contracted red cells - drug and chemical induced haemolytic anaemia, unstable haemoglobinopathies

4. Target cell (a type of leptocytosis)- iron deficiency anaemia, thalassemia, chronic liver disease and after splenectomy

5. Sickle cell (drepanocyte)- sickle cell anaemia

6. Tear drop cell - myelofibrosis, underlying marrow infiltrate

7. Crenated red cell - in blood films due to alkaline pH, presence of traces of fatty sustances on the slides or film allowed to stand over night

8. Acanthocyte - post splenectomy, chronic liver disease, Abetalipoproteinemia, McLeod blood group phenotype

9. Burr cell - uremia, liver disease, artifact

10. Stomatocyte - hereditary stomatocytosis, chronic alcoholism

11. Ovalocyte - hereditary ovalocytosis, hereditary elliptocytosis, severe iron deficiency anaemia

The diagram given represents the corresponding cells

Credits to: Shivani Mangalgi.

Myopathies series- Part 2


In previous post, I gave an introduction of metabolic myopathies.

Today we cover:-

I.Diagnostic role of creatine kinase in metabolic myopathies.

II.Metabolic myopathies and its types.

Diagnostic role of enzyme in myopathies.

The following diagram shows the enzymes related to myopathies and their associated metabolic reactions.( Note:- The metabolic pathway is not only for skeletal muscle .It is in general . My main aim is to show enzymes of liver and muscle along with the pathways.Remember urea cycle occurs in liver )

Creatine kinase: - This enzyme will help us to evaluate different METABOLIC myopathies.

  1. ELEVATED CK: - In Glycogen storage disease associated myopathies.
     (In some GSD there will be mild elevated CK)
  2. MILD ELEVATED CK:- In Fatty acid oxidation disorder.
  3. NORMAL CK: - In Mitochondrial myopathies.Also in some fatty acid oxidation disorder.

    Metabolic myopathies types:-


Second wind phenomenon: - suggestive of GSD V / McArdle’s
2. Out-of-wind phenomenon: - suggestive of GSD VII/ Tarui
3. Myoglobinuria (Burgundy colored urine):- GSD V, GSD IX
                                                                         LDH, PGM or PGK enzyme deficiency
                                                                         CPTII Deficiency
4. Proximal weakness: - GSD II / Pompe.
5. Exercise intolerance,ataxia,multisystem involvement:- Mitochondrial disorder, Coenzyme Q10 Deficiency.
1. Serum CK levels.
2. Lactate 
3.Serum electrolytes.
4. ammonia
6. Urinalysis
7.Forearm exercise test.
9.Routine muscle biopsy
1. Urine organic acids
2. Plasma acylcarnitine profile
1. Enzyme analysis
2. DNA Analysis on leukocytes, fibroblasts and liver.

Click on the below given link to read on how to differentiate between McArdle, CPT II deficieny and mitochondrial myopathy. (this link helped me with the notes) 
*If you are running short of time, then Read only Case 1 and Case 2
I hope it helped. 
-Upasana Y. :)

Fact of the day: Gonorrhea and vulvovaginitis

Gonorrheal infection is generally limited to superficial mucosal surfaces lined with columnar epithelium. The areas most frequently involved are the cervix, urethra, rectum, pharynx, and conjunctiva

Evaluation of Pseudophakia

Clinical evaluation of a case of Pseudophakia.

Pseudophakia is a term used to describe the condition wherein an artificial intraocular lens is implanted after surgery for cataract.

On history - History of cataract surgery present.

On examination -

1) Deep Anterior Chamber (the posterior support for the iris is lost as the IOLs are thinner that the natural lens)
2) Conjunctival flap and subconjunctival hemorrhage ( seen only in recent cases)
3) Scleral/ Corneal incision and scar.
4) Iridodonesis (tremulous iris)
5) Jet black pupil
6) Shimmering light reflex from the IOL.

Oculocardiac Reflex

Oculocardiac Reflex/Aschner phenomenon.

This is one of the trigeminovagal reflexes produced on digital massage of eye. Digital massaging of the eyeball is done to lower intraocular pressure after producing a retrobulbar or a peribulbar block. But rarely....this event is followed by cardiac depression, asystole and even death. The afferent is by the ophthalmic division of trigeminal nerve which relays in the visceral motor nucleus of the vagus nerve. The efferent is carried by the parasympathetic vagus nerve to the heart. It is most commonly seen in pediatric cases during squint surgery.
It is not seen very commonly in adults and in other surgeries as the procedure would involve just one eye and massaging of this eye is not sufficient to produce bradycardia normally.

Treatment: atropine or glycopyrrolate . Cardiopulmonary resuscitation might be needed in severe cases.

Friday, July 14, 2017

Bulbar and Psuedobulbar palsy : Overview

Here's a short overview of Bulbar and Pseudobulbar palsy !

If there is a lesion is at the level of Medulla - affecting the motor neurons : The nuclei of the cranial nerves -  you get LMN Palsy features - Flaccid paralysis of 9 10 11 12 Cranial nerves. This is called a 'Bulbar palsy' as the bulb (Medulla) is involved in isolation.

Now , essentially when the fibres supplying the motor neurons of the bulb (your Medulla)  are affected themselves - that is any neurons above the nucleus of the nerve - it's a UMN lesion. So you get 9 10 11 12 UMN palsy - Spastic paralysis.
This would be Pseudo-bulbar as same CN involved but lesion is above the Medulla

So Pseudobulbar you'd have a hyper active gag reflex while it'll be absent in Bulbar.(Mediated by 9th cranial nerve).

You'd have a Hot potato like speech in Pseudobulbar as your vocal muscles of larynx and tongue are spastic. - (10th and Cranial 11th. )

While you'd see a nasal twang in Bulbar (also called Donald duck speech)
As your soft palate doesn't abut against the nasal cavity (due to LMN flaccid paralysis). Also causing nasal Regurgitation of food in Bulbar.

So they both essentially present with 9 10 features and some of the 11 12. Hence one is Pseudo and the other is true Bulbar.

Psuedobulbar would also have emotional problems. Called Pseudobulbar affect (as the higher fibres are involved - lesions are generally multiple infarcts in the cortex).

A few important causes : 

Psuedobulbar palsy :

- Vascular = B/L Frontal lobe lesion , B/L Pontine stroke , Vascular dementia = Multi infarct dementia.

- Central Pontine Myelinolysis

- Degenerative = Multiple sclerosis  , Motor neuron disease

- Cerebral Palsy

Bulbar palsy :

- Guillian Barre Syndrome

- Polio

- Motor neuron Disease

- B/L Medullary infarction

Hoping this helped !
Happy studying guys !
And stay awesome !!

~ A.P.Burkholderia.

Thursday, July 13, 2017

Myopathies series -Part 1

Hello :)

Before starting with the series, I will post on the basics you need to know for myopathies.

Q. What do you mean by muscular dystrophy and myopathy?
A. I found that following definition from Harrison is simple.

Skeletal muscle disease = myopathies, are disorder with structural changes or functional impairment of muscle.

Muscular dystrophy refers to a group of hereditary progressive diseases with unique phenotypic and genetic features.

Do you know glycogen storage diseases?
Yes! But why do you need to mention it here ? Because,
Skeletal muscles are the store house of glycogen. It gets converted into glucose-6-phosphate (Note: - Never in glucose unlike liver .Why? Otherwise glucose will move out from the myocyte to blood. And myocytes will fail to utilize their own stored glycogen.That is why muscle lack an enzyme called glucose-6-phosphatase.)

There are some glycogen storage disease which will lead to myopathies. For now remember that myopathies have different way of presentation .Muscle weakness is one of the clinical feature.
The muscle weakness can either be 1. Intermittent or 2. Persistent.
If there is energy deficiency in muscle, it will become weak.
Today, we are focusing mainly on Skeletal muscle energy metabolism.

Glycogen storage disease are described in the Roman numerals. Not all glycogen storage disease lead to myopathies. Some glycogen storage disease lead to myopathies is mentioned in the diagram.

 More is coming up.:) 
-Upasana Y.  

Tuesday, July 11, 2017

Pathophysiology of laboratory findings in tumor lysis syndrome

Which of the following electrolysi abnormalities will you see in tumor lysis syndrome?
Answer either high, normal or low for each of these - calcium, phosphate, potassium, uric acid.

Labs in tumor lysis syndrome -


When cancer cells lyse, they release potassium, phosphorus, and nucleic acids, which are metabolized into hypoxanthine, then xanthine, and finally uric acid. 

This leads to:

Hyperkalemia can cause serious — and occasionally fatal — dysrhythmias.

Hyperphosphatemia can cause secondary hypocalcemia, leading to neuromuscular irritability (tetany), dysrhythmia, and seizure, and can also precipitate as calcium phosphate crystals in various organs (e.g., the kidneys, where these crystals can cause acute kidney injury).

Uric acid can induce acute kidney injury not only by intrarenal crystallization but also by crystal-independent mechanisms, such as renal vaso-constriction, impaired autoregulation, decreased renal blood flow, oxidation, and inflammation.

Crystal-induced tissue injury occurs in the tumor lysis syndrome when calcium phosphate, uric acid, and xanthine precipitate in renal tubules and cause inflammation and obstruction.

That's all!


Causes of microcytic erythrocytosis

A high RBC count combined with a low mean volume is seen in:

1. Thalassemia minor, either alpha or beta
2. Polycythemia vera with iron deficiency
3. Secondary polycythemia (hypoxia) with incidental iron deficiency.

Differentiating thalassemia minor from polycythemia vera:

The RBC size distribution curves reliably distinguish between thalassemia minor and polycythemia with iron deficiency.

RDW is elevated in iron deficiency. It is normal in thalassemia minor.

That's all!


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