Myopathies series -Part 5

Hello! :)

8. APPEARNACE OF MUSCLE :-

- Hypertrophy of Calf muscles = Dytrophinopathies or Limb girdle muscular dystrophy.

-Pseudohypertrophy= Duchene's muscular dystrophy, infiltration by sarcoid granulomas,amyloid deposit, bacterial and parasitic infections.

-Atrophy of gastrocnemius muscles in medial aspect = Dysferlinooathies 

- Atrophy of humeral muscles= FSHD

9. REFLEXES PRESERVED

10. LAB INVESTIGATIONS:-

1. ENZYMES: - I have already discussed its role in metabolic myopathies.

- ALT, AST, LDH,aldolase :- Found in both skeletal muscle and liver.Elevated GGT help to establish its liver origin.

-CK (MM) help to evaluate myopathies.

2. ELECTRODIAGNOSTIC STUDIES: 

-EMG: - diagnose myopathy and help to choose right muscle for biopsy.

-NCS (nerve conduction studies):-Help to differentiate myopathies from neuropathy and NMJ disorders.

       

Diagnostic test for specific type of myopathies:-

1. FOREARM EXERCISE TEST:-

- Place an indwelling catheter in to an antecubital vein and obtain baseline blood sample for lactic acid and ammonia.

-The forearm muscles are exercised. Vigorously squeeze the sphygmomanometer bulb for 1 min.

-Blood is then obtained at the intervals of 1,2,4,6 and 10 min for comparison with baseline.

Normally, Both glucose and ammonia increases with exercise.

Interpretation:-

-Glycolytic defects: - Lactic acid rise is absent or below normal while rise in ammonia will reach the control values.

-Myoadenylate deaminase deficiency: - there occur a selective failure to increase ammonia.

2. DNA ANALYSIS: - Some muscle disorder are associated with gene defects like deletions and mutations. (In Duchene muscular dystrophy, we will see it.)

3. MUSCLE BIOPSY:-

-Safe diagnostic procedure in establishing the final diagnosis of suspected myopathy.

-Different techniques of microscopic evaluation: - Histology, immunohistochemistry with antibodies, electron microscopy.

-SITE: - muscle selected may have mild to moderate muscle weakness.

-NOT PERFORMED ON: - Muscle injured by previous trauma,injections and EMG needles 

-COMMON MUSCLES USED FOR BIOPSY:-

PROXIMAL: biceps, triceps, quadriceps

DISTAL: - Extensor carpi radialis, Anterior tibialis.

*Claps* 

We are done with the basic for myopathy.

Now I will go through individual myopathy. :D

I remember age and progression of myopathy part. :) I will discuss it in next part. 

Take care.

-Upasana Y. 

Image based question on toxicology

Hello awesomites!

Yesterday, we posted an Image based MCQ - And as promised, here is the answer!

#FMT
#Pharmacology 

Q. A child accidentally consumed a fruit shown in the picture. Which of the following drugs is used for management?

A. Neostigmine
B. Pyridostigmine
C. Physostigmine
D. Atropine

The correct answer is C. Physostigmine.

The plant shown in the picture is Datura Stramonium. It contains Atropine which is Anticholinergic. The drug of choice for Anticholinergic toxicity is Physostigmine.

MD Mobarak Hussain (Maahii)

Acute Pancreatitis - Mnemonic

Hello Awesomites!
Here's a Mnemonic on the causes of Acute Pancreatitis.
The mnemonic is- GET SMASHED

G- Gall Stones
E- Ethanol (Alcohol consumption)
T- Trauma
S- Steroids
M- Mumps
A- Autoimmune
S- Scorpion stings
H- Hyperlipidemia /Hypercalcemia
E- ERCP (Iatrogenic)
D- Drugs

I hope that this is useful for you guys.
Thank you.

MD Mobarak Hussain (Maahii)

Spine abnormalities in neurofibromatosis

Neurofibromatosis is an autosomal dominant disease.There are 3 types of neurofibromatosis. Type 1 is more common among all and is characterized by tumors that develop along nervous system.

This post deals with spinal abnormalities that occur in type 1 neurofibromatosis.

Due to presence of multiple neurofibromas of spinal nerves, there is increased CSF pressure, this causes protrusion of duramater, this ballooned sac containing cerebrospinal fluid is known as dural ectasia.

This condition may result in pain in the back and limbs, bladder control problems, and numbness in severe cases.
Neurofibromatosis may cause tumors around the spinal cord. Scoliosis, an irregular side curvature of the spine from left to right, and kyphosis, or a rounded or forward angulated back, occur together or separately in about one in five people with neurofibromatosis type 1.

Children with neurofibromatosis type I develop one of two forms of scoliosis, dystrophic or non- dystrophic scoliosis. Non-dystrophic type is similar to ' typical ' scoliosis called as adult idiopathic scoliosis.

Dystrophic scoliosis, on the other hand, is a form of scoliosis that occurs due to bony changes related to neurofibromas affecting the spine. Dystrophic scoliosis is identified by looking for specific features on X-rays of the spine. For patients and their families, dystrophic scoliosis is known as a more severe form of scoliosis. It may also occur with abnormally thin ribs, weakened vertebral bones, and severe spinal curvatures including kyphosis and rotational deformities and is often associated with dural ectasia.

Treatment for scoliosis due to neurofibromatosis is challenging, particularly when dystrophic scoliosis is present. Effective treatment requires the knowledge and skill of an experienced orthopedic surgeon who specializes in scoliosis treatment.

Thanks for reading.

Madhuri Reddy

Image based question on gallstone

Hello awesomites!

Yesterday, we posted an Image based MCQ on Facebook, Instagram, Tumblr and Twitter - And as promised, here is the answer!

Q. What type of stone is this?
Hint - This is the most common stone worldwide.

Options:
A. Cholesterol
B. Mixed
C. Black
D. Brown 

The correct answer is B. Mixed gallstone.

The given pathological specimen shows a Gall Bladder removed after cholecystectomy and multiple faceted stones found inside it.

Stones are multiple in number, the cut section shows the central brown core which is pigmented surrounded by whitish/pale layer of cholesterol making it a mixed stone.

Hope you enjoyed this question and we will be back with another one soon!

-MD Mobarak Hussain (Maahii)

Fact of the day : Reduced white matter due to depression

Hey Awesomites

People ( or patients ) suffering from depression have reduced integrity of white matter substance. This means the neuronal circuit loses its connections with other parts of brain due to miscommunication between the brain cells.

A recent study mapped the internal structures of brain using diffusion tensor imaging ( DTI ) technology, that is a specialised MRI scan that creates a 3D map as it follows the diffusion of water in brain tissue.
( Source )


- Jaskunwar Singh

Steven-Johnson syndrome (SJS) / Toxic epidermal necrolysis (TEN) -Part 2

Hello :)

Have you heard of SCORTEN SCORE?

It is a score used to assess the severity of illness in TEN.

Go to the link below:-

https://image.slidesharecdn.com/delayedtypedrughypersensitivityinterhospitalconference-100803104905-phpapp01/95/delayed-type-drug-hypersensitivity-35-728.jpg?cb=1280833217

-We can assess the nutritional status by the body weight.

-Body is in the condition of hyper metabolism which will lead to excessive proteolysis.

-For the above thing, check albumin levels.

-Due to excessive fluid loss body will undergo dehydration and hypotension.

-Temperature should be noted. As each degree increase in temperature over normal, increases metabolism by 5-8%.

-Ocular examination is important part.

-Check for LFT and RFT.

-Late ophthalmic complications are mainly due to functional alteration of the conjunctival epithelium with dryness and abnormal lacrimal film. This leads to chronic inflammation, fibrosis, entropion, trichiasis, and symblepharon. Long-term irritation and deficiency of stem cells in the limbus may result in metaplasia of corneal epithelium with painful ulcerations, scarring, and altered vision.

- Esophageal, intestinal, urethral, and anal strictures may also develop in rare cases. 

Nutrition: -

 Consist 2 parts

1) parentral

2) Entral

Parentral nutrition consist of dextrose.

Entral is important for this patient.

-Protein powder.

-Dal.

-Fruits e.g. Banana

-We use various feeding devices like nasogastric tube or ryles tube.

Treatment:-

-Stop all the drugs

-airway breathing circulation fluids

-Symptomatic treatment

MEDICATIONS

Antibiotic to treat and prevent infections.

Used to treat and prevent severe skin inflammation.

Ranitidine reduces the acidity.

BETADINE MOUTH GARGLE: Oral antiseptic for relief of painful infections and inflammatory conditions of mouth and pharynx

Anti-inflammatory, Anti-pruritic, and Vaso-constructive properties. To cure mouth ulcers.

-Burns guideline (but lesser fluids)

That's all for today .

-Upasana Y. :)

x

Genetics in Alzheimer's disease mnemonic

__________ gene is associated with early onset Alzheimer's disease (AD).

__________ gene is associated with late onset Alzheimer's disease.

Answers:
Early onset - APP gene
Late onset - Apo E4 gene

Awesomite: I need a mnemonic for this.

Mnemonic:
apO E4 in Old Elderly
aPP in Pediatric Patients

-IkaN

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

Hello! :)

TOXIC EPIDERMAL NECROLYSIS

-A severe form of adverse cutaneous drug reaction

-Idiosyncratic reaction

-Immunologically Mediated

- Fever and mucocutaneous lesions

-Epidermal sloughing

CLASSIFICATION

1. SJS= <10% BSA detachment

2. OVERLAPPING SJS/TEN= 10-30% detachment

3. TEN = >30% detachment

EPIDEMIOLOGY

-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.

ETIOLOGIES

-Drugs being the most common cause

-Infection (viral e.g. HSV, bacterial, fungi)

-Vaccination

-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

-Anti-psychotics

-Analgesic including NSAIDS

RISK FACTORS:

GENETIC SUSCEPTIBILITY:-

-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

HIV:-

-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.)

CLINICAL PRESENTATION:-

-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

-Erythroderma

-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

-Dysuria

-GI bleed

-Pulmonary bleed

LABORATORY FINDINGS

-Anemia

-Lymphopenia

-Neutropenia (poor prognosis)

-Elevated transaminases

-Cultures, If infected

-Skin biopsy-Rule out other conditions

-BUN/CR ratio

-Serum electrolytes

PATHOGENESIS

-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.

HISTOLOGY

-Early perivascular inflammation of T-lymphocytes, primarily CD8

-Monocytes infiltration

-Lymphocytes surrounding basal keratinocytes

-Subepidermal vesiculation

-Full thickness necrosis

-Increased adhesion molecules: VCAM, ICAM

EVALUATION AND DIAGNOSIS

-Clinical diagnosis on the basis on exclusion

-prior drug history or illness+fever+skin lesions with sloughing

DIFFERENTIAL DIAGNOSIS

-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)

EMM (ERYTHEMA MULTIFORME):

-targeted papules and plaques

-Acrally distributed

-Fever mild

-Significant skin detachment uncommon

-Histology: inflammation EMM>SJS

TREATMENT:-

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

-SUPPORTIVE CARE

 - 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 

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3018455/

That's all for today.

I will discuss the case we have seen in the emergency ward on the same. And also the treatment aspect. 

-Upasana Y. :)

x

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:-

1. MUSCLE WEAKNESS

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.

A) HIP GIRDLE (MOST COMMONLY AFFECTED)

- Difficulty in getting up from squatting position or from low chair,

-Inability to climb stairs,

-Waddling gait.

B) UPPER GIRDLE WEAKNESS

- Difficulty in hanging clothes on a cloth line

-Difficulty in taking down item from high shelves.

C) TRUNK WEAKNESS

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

D) NECK MUSCLE WEAKNESS 

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

-neck pain and stiffness.

E) CRANIAL MUSCULATURE WEAKNESS

1. FACIAL WEAKNESS:-

-Inability to close eyes fully.

-Difficulty in drinking with a straw.

2. OCCULAR WEAKNESS:- (I will explain this below in bit detail )

-ptosis

-extraoccular movement weakness are seen.

F) DISTAL MUSCULATURE WEAKNESS

-Difficulty in opening lids of jar

-turning keys in keyholes

-tend to trip on uneven ground with repeated falls.

2. GAIT

3. FATIGUE

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.

4. MYALGIA

-Episodic= metabolic myopathies

-Constant=inflammatory muscle disorders

5. OCULOBULBAR WEAKNESS

6. SENSORY SYSTEM = NORMAL 

7. MYOGLOBINURIA 

- 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

What is the Earth day secret project about?

Medicowesome secret project: Stalking the Future

What is the secret project? How can I participate?

Medicowesome secret project: The Ordeal

What is the secret project? How can I participate?

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!

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

-CONGENITAL

-ACQUIRED

I. CONGENITAL:-

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

-Facioscapulohumeral

-Occular

c) Sex linked muscular dystrophy

-Duchene 

-Becker

-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.)

II.ACQUIRED MYOPATHIES

1. Inflammatory myopathies

-Infectious

-non-Infectious

-systemic inflammatory disease (involves other organs also)

2. Toxic myopathies

-Thyrotoxic myopathy (There is an awesome post By Ojas )
http://www.medicowesome.com/2017/03/pathophysiology-of-myopathy-caused.html

-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

-cerebellum

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.
x

-Upasana Y. :)

x

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!