Diagnostic criteria of neurofibromatosis type 1 mnemonic

The criteria are met in an individual if two or more of the features listed are present.

The mnemonic is "FANCOOL"

F: Family history
A: Axillary freckles (known as CROWE'S SIGN)
N: Neurofibromas (2 or more)
C: Café-au-lait macules (6 or more)
O: Optic gliomas
O: Osseous  (sphenoid dysplasia)
L: Lisch nodules in the eyes.

Thanks for reading.

Madhuri

 

Diagnostic features in the X-ray and probable pathology in the Sinus

Hello :)

1. Haziness of sinuses only :- Sinusitis
2. Bony expansion without erosion :- Benign tumefaction e.g Polyposis
3. Decreased air shadow in nasal cavity without bony expansion :- Hypertrophic rhinitis
4. Bony erosion with expansion :- Malignancy
5. Bony defect without expansion of haziness :- Surgically induced (Iatrogenic) or fracture
6. Fluid level in maxillary sinus :- Sinusitis with pus signifying acute bacterial maxillary sinusitis

This question was asked to me by my friend and it was fun to find the answer.
(Source :-Otolaryngology at the eleventh hour By Anupam Mishra)

That's all for today.
-Upasana Y. :)

New treatment regimen for Hepatitis C

Hey guys! I have copied this article from the FDA website more or less. You will definitely find it helpful.

The U.S. Food and Drug Administration today approved Mavyret (glecaprevir and pibrentasvir) to treat adults with chronic hepatitis C virus (HCV) genotypes 1-6 without cirrhosis (liver disease) or with mild cirrhosis, including patients with moderate to severe kidney disease and those who are on dialysis. Mavyret is also approved for adult patients with HCV genotype 1 infection who have been previously treated with a regimen either containing an NS5A inhibitor or an NS3/4A protease inhibitor but not both. 

Mavyret is the first treatment of eight weeks duration approved for all HCV genotypes 1-6 in adult patients without cirrhosis who have not been previously treated. Standard treatment length was previously 12 weeks or more.

“This approval provides a shorter treatment duration for many patients, and also a treatment option for certain patients with genotype 1 infection, the most common HCV genotype in the United States, who were not successfully treated with other direct-acting antiviral treatments in the past,” said Edward Cox, M.D., director of the Office of Antimicrobial Products in the FDA’s Center for Drug Evaluation and Research.

There are at least six distinct HCV genotypes, or strains, which are genetically distinct groups of the virus. Knowing the strain of the virus can help inform treatment recommendations.

The safety and efficacy of Mavyret were evaluated during clinical trials enrolling approximately 2,300 adults with genotype 1, 2, 3, 4, 5 or 6 HCV infection without cirrhosis or with mild cirrhosis. Results of the trials demonstrated that 92-100 percent of patients who received Mavyret for eight, 12 or 16 weeks duration had no virus detected in the blood 12 weeks after finishing treatment, suggesting that patients’ infection had been cured. 

Treatment duration with Mavyret differs depending on treatment history, viral genotype, and cirrhosis status.

The most common adverse reactions in patients taking Mavyret were headache, fatigue and nausea.

Mavyret is not recommended in patients with moderate cirrhosis and contraindicated in patients with severe cirrhosis. It is also contraindicated in patients taking the drugs atazanavir and rifampin.

That's all!

-VM

Factors increasing iron absorption in the intestine mnemonic

Hello! Long time, no see!

Did you know a number of dietary factors influence iron absorption?

Ascorbate (vitamin C) and citrate increase iron uptake in part by acting as weak chelators to help solubilize it in the duodenum.

Cushing Ulcers : An overview

Hi Everyone ! Here's a short post on Cushing and Curling ulcers.

For Cushing Ulcers you need to remember these key points :

C
U - Ulcerating - can even perforate.
S - Stomach
H - Head injury induced Stress Ulcer
I   - lNcreased
N - INcreased
G - Gastric Acid secretion.

Stress ulcers are typically non ulcerative superficial erosions  of the gastric mucosa.
They occur when a person is subjected to physical stress in the form of Trauma, Sepsis, Burns, Hemorrhage among many others.
Psychological stress doesn't cause 'Stress ulcers' , although it does pre dispose to getting Peptic Ulcer Disease on its own accord. All the same, it doesn't cause 'Stress ulcer'.

Cushing ulcers are type of stress ulcers occuring secondary to Head injury. They occur in the stomach  commonly , and  are associated with increased Gastric acid secretion. They are typically erosive and ulcerative , more likely to perforate than other stress ulcers.

Another named stress ulcer is Curling Ulcer occuring secondary to Burns. They occur in the 1st part of duodenum  commonly , and  are NOT associated with increased Gastric acid secretion.

Presentation :
Painless upper GI bleeding within 1-2 days of traumatic event.
Usually slow and intermittent bleeding.

Diagnosis :
Endoscopy.
(More to rule out other causes of GI bleed rather than ruling this in).

Treatment :

- Treat underlying causes.
- Fluids
-  Gastric pH to be maintained > 5  (using PPI like Pantoprazole)
- If lot of bleeding - Ligation of vessel at base of ulcer.

That's all!
Happy studying !
Stay awesome !

~ A.P.Burkholderia

Image Based MCQ on Ophthalmology

Hello Awesomites!
Yesterday we posted an Image based MCQ on Ophthalmology and here is the answer for it.
#Ophthalmology
#Spot_Dx
Q. What is the most likely diagnosis of the given image? 

A. Ankyloblepharon
B. Symblepharon
C. Pterygium
D. Pseudo pterygium 

The correct answer is B. Symblepharon.
Symblepharon is an adhesion between the eyelid and the eyeball. It can involve just one lid or both. This adhesion of subepithelial scarring can lead to other lid complications such as aberrant lash growth and entropion. Symblepharon can develop as a complication of several diseases and/or etiologies that include:
Severe dry eye syndrome
Stevens-Johnson syndrome
Cicatricial pemphigoid
Chemical injury
Erythema multiforme
Bullous pemphigus
Conjunctival infections associated with conjunctival scarring such as chlamydial, vernal, atopic, and bacterial conjunctivitis
Epidemic keratoconjunctivitis
Burns
Toxic epidermal necrosis

That's all!
Thank you.

MD Mobarak Hussain (Maahii) 

Pulmonary Alveolar Proteinosis: High yield points

Pulmonary Alveolar Proteinosis (PAP)

a. Lipoproteinaceous material(like surfactant) accumulates within alveoli.
b. There is susceptibility to pulmonary infections, sometimes with opportunistic organisms.
c. In the congenital form, there is mutation in the gene for surfactant protein B or C or the Bc chain of the receptor for GM-CSF.
d. It can be secondary to Hematologic cancers, pharmacologic immunosuppression, inhalation of organic dust (eg., silica) or toxic fumes and certain infections.
e. Acquired PAP is an autoimmune disease targeting GM-CSF.
f. 72 percent patients have a history of smoking.
g. Most patients present with progressive exertional dyspnea of insidious onset and cough. If there is secondary infection, there can also be fever, chest pain, hemoptysis.
h. Physical examination: Some patients have cyanosis, clubbing, inspiratory crackles.
i. Chest X ray: Bilateral air-space disease with an ill-defined nodular or confluent pattern.
j. HRCT: Patchy, ground glass opacifications with superimposed interlobular septal and intralobular thickening, a pattern called "Crazy Paving".
k. The lavage fluid in patients with this disorder has an opaque, milky appearance. It is PAS positive.
l. Electron Microscopy shows that the intraalveolar material consists of amorphous, granular debris containing numerous osmiophilic, fused membrane structures resembling lamellar bodies and tubular myelin. 
m. Acquired PAP has been treated successfully by Whole-lung lavage. 

-VM

Myopathies series - Part 7

Hello :)

In previous post, We discussed about myopathy caused due to structural changes.
Today, I will explain it in detail. (SOURCE :- Harrison's Principle of internal medicine )

Two complex are important here :-
1. DYSTROPHIN COMPLEX
2. SARCOGLYCAN COMPLEX

- Dystrophin-glycoprotein complex confer stability to the sarcolemma
- deficiency of dystrophin (Duchennes dystrophy) may lead to secondary loss of the sarcoglycans and dystroglycan
-Loss of a single sarcoglycan (LGMD) results in secondary loss of other sarcoglycans in the membrane without affecting dystrophin
-Disruption of the dystrophin-glycoprotein complexes weakens the sarcolemma, causing membrane tears and a cascade of events leading to muscle fiber necrosis.

Let us discuss dystrophinopathies first .

1.Duchene’s muscular dystrophy 
-Most common muscular dystrophy
- X-linked recessive disorder
- Onset before age 5

-Age : Present at birth ,Usually becomes apparent between ages 3 and 5
-Sex : Male

Etiology
-XR (Deletion mutation of the gene that encodes dystrophin)


Laboratory Tests
• Serum CK
 – Elevated to between 20 and 100 times normal
 – Abnormal at birth but declines late in the disease because of inactivity and loss of muscle mass.

 Mutation analysis on peripheral blood leukocytes
• Identification of a specific mutation in dystrophin gene
– Allows for unequivocal diagnosis
– Makes possible accurate testing of potential carriers
 – Is useful for prenatal diagnosis

Diagnostic Procedures
• EMG -> Myopathic

Muscle biopsy
• Muscle fibers of varying size
• Small groups of necrotic and regenerating fibers
• Connective tissue and fat replace lost muscle fibers.
• Definitive diagnosis is established on the basis of dystrophin deficiency.
• Diagnosis can also be made by Western blot analysis of muscle biopsy specimens.
– Abnormalities on the quantity and molecular weight of dystrophin protein

• Immunocytochemical staining of muscle with dystrophin antibodies
– Can be used to demonstrate absence or deficiency of dystrophin
 – localizing to the sarcolemmal membrane
– Possible mosaic pattern in carriers of the disease
 – Dystrophin analysis of muscle biopsy specimens for carrier detection not reliable

Treatments
Prednisone 0.75 mg/kg per d
– Significantly slows progression for up to 3 years
– Some patients cannot tolerate glucocorticoid therapy
• Weight gain is significant
– Complications of long-term use often outweigh the benefits.

Exon skipping therapy
• Duchenne's disease may benefit from novel therapies that either replace the defective gene or missing protein or implement downstream corrections (e.g., skipping mutated exons or reading through mutations that introduce stop codons)

2. Becker’s Muscular dystrophy
-Less-severe form of XR muscular dystrophy
-allelic defects of same gene of Duchenne ( ~10 times less frequent than Duchenne)

 -Age : – Most between ages 5 and 15
– Onset in the third or fourth decade or even later can occur 
- Sex : Male

Symptoms & Signs
• Onset of symptoms occurs between ages 5 and 15.

I.Muscular manifestations – Pattern of muscle wasting closely resembles Duchenne.
– Progressive weakness of girdle muscles, especially of lower extremities
 – Weakness becomes generalized as disease progresses.
 – Hypertrophy, particularly in calves, is an early and prominent finding.
– By definition, patients walk beyond age 15 (whereas patients with Duchenne dystrophy are typically in a wheelchair by the age of 12). 
– Significant facial muscle weakness is not a feature.
– Respiratory failure may develop by fourth decade.

II. Extramuscular manifestations
– Cardiac, may result in heart failure
– Mental retardation may occur, not as common as in Duchenne
• Other less common presentations
 – Asymptomatic hyper-CK-emia
– Myalgias without weakness 
– Myoglobinuria

Laboratory Tests
• Serum CK – Closely resembles findings in Duchenne dystrophy
• Mutation analysis on peripheral blood leukocytes
– Deletions or duplications of the dystrophin gene in 65% of patients (same as in Duchennes dystrophy)
– 95% of patients, the DNA deletion does not alter the translational reading frame of mRNA.
 These "in-frame" mutations allow for production of some dystrophin, which accounts for the presence of altered rather than absent dystrophin on Western blot analysis 
• EMG – Myopathic
• Muscle biopsy – Results closely resemble those in Duchenne dystrophy.
 – Diagnosis requires Western blot analysis of muscle biopsy samples demonstrating a reduced amount or abnormal size of dystrophin.

Treatments 
• Use of glucocorticoids has not been adequately studied
• Endurance training may be helpful

That's all for today.
-Upasana Y. :)

Composition of Bone cement

Hello :)

Today I saw a case of Infected AMP implant. Following questions were asked to me regarding bone cement.
Q. Composition of bone cement.

A. Bone cement consist of :- Powder and liquid.

POWDER
1. Polymer : Polymethylmethacrylate (PMMA)
2. Initiator : Benzoyl peroxide (BPO)
3. Radio-opacifier : Barium sulphate , Zirconia
4. Antibiotic :- Gentamicin (commonly)

LIQUID
1. Monomer : Methylmethacrylate (MMA)
2. Accelerator : N,N Dimethy Paratoluidine (DMPT)
3. Stabilizer : Hydroquinone

Q.Antibiotics used as additives for PMMA bone cement.
A. Antibiotics commonly used as additives for PMMA bone cement include:
- vancomycin, (MRSA)
-gentamicin,
-meropenem,
-in addition to tobramycin.

Also, successful non-antibiotic bactericides that have been used as bone cement additives include:-
- Quaternary ammonium compounds (benzalkonium chloride and cetylpyridinium chloride)

That's all for today.
-Upasana Y. :)

Causes of Radio Radial and Radio femoral delay

Hello :)

Before this post I didn't realise the importance of checking and comparing both the radial pulses.

Pulse, by definition, is the expansion and elongation of the arterial wall imparted by the column of blood, passively produced by the pressure changes during ventricular systole and diastole.
Always report the pulse under following headings.

Assessment of pulse include :-

1. RATE (beats/min)
-Tachycardia (>100bpm)
-bradycardia (<60bpm)

2.RHYTHM
-regular
-regularly irregular (2nd degree heart block)
-Irregularly irregular (Atrial fibrillation, ventricular premature beat)

3.EQUALITY

4.CHARACTER

5.PERIPHERAL PULSES

6.APEX PULSE DEFICIT (atrial fibrillation )

7. RADIO RADIAL /RADIO FEMORAL DELAY

Today , I will discuss the causes of Radio Radial and Radio Femoral delay.

CAUSES OF RADIO RADIAL DELAY :-

1. Normal anatomical variations
2. Thoracic inlet syndrome, e.g. cervical rib
3. Aneurysm of Arch of aorta
4. Presubclavian coarctation
5. Supravalvular aortic stenosis
6. Pulseless disease
7. Peripheral embolism or artheromatous plaques
8. Artherosclerosis of aorta
9. Pressure over axillary artery by lymph nodes
10. Iatrogenic, Blalock-Tausig shunt operation in TOF

CAUSES OF RADIO FEMORAL DELAY :-

1. Coarctation of aorta
2. Artherosclerosis of aorta
3. Thrombosis or embolism of aorta
4. Aortoarteritis

That's all for today,
-Upasana Y. :)

Iodized salt test

Hello :)

We all know that salt is used as a medium for iodization.
Iodized salt is used prophylactically to prevent endemic goiter as public health importance.
Iodide deficiency disorder IDD include :-
-goiter
-Hypothyroidism
- Subnormal intelligence
-Mental retardation
-Neuromuscular weakness
-Hearing and speech defect
-endemic cretinism
-Still birth

To check whether given packet of salt contain iodine or not, we use different method.
Rapid kit test is one of the test.
The kit consist of 2 ampoule  test solution and 1 recheck solution bottle.
In the diagram I made 3 bottles to represent the 3 component of the test.
Alkalinity of salt doesn't give colour. So we use recheck solution in the end of the test .
The colour of the test sample is compared with the standard colour chart for calculating the salt iodine content.

I want to thank my teacher for an explanation :)

-Upasana Y. :)

Microbiology question

#Microbiology
#Medicowesome
A patient is suffering from features of septic shock with following clinical picture.Most probable causative organism is
A) Staphylococcus
B) Listeria
C) CMV
D) Meningococcus

Answer is "D" that is Meningococcus.
It is a classical case of Waterhouse-friderichsen syndrome/Purpura fulminans/Fulminant meningococcemia:It is simply trauma to adrenal gland causing extensive bleeding, multiple organ failure, leucopenia, thromobocytopenia and consistent development of DIC.Low level of blood glucose and sodium and high level of ACTH and potassium level is suggestive of adrenal failure.
It differs from other septic shock because of the presence of prominent hemorrhagic skin lesions petechia, purpura.

Image Based MCQ on Twin Pregnancy

Hello awesomites! 

Yesterday we posted an Image based MCQ on Twin Pregnancy. Here's the answer for it. 

#Radiology
#Obs_Gynae
Q. What is the diagnosis of the given USG image? 

A. Polyhydramnios 

B. Diamniotic Monochorionic twins 

C. Diamniotic dichorionic twins

D. Monoamniotic Monochorionic twins. 

The correct answer is C. Diamniotic dichorionic twins. 

The twin peak sign (also known as the lambda (λ) sign) is a triangular appearance of the chorion insinuating between the layers of the inter twin membrane  and strongly suggests a dichorionic pregnancy.  It is best seen in the first trimester (between 10-14 weeks). While the presence of a twin peak sign is a useful indicator of dichorionicity its absence, however, is not that useful in confidently excluding it.

It should be noted that the 'twin' in 'twin-peak' refers not to the presence of two peaks, but that it relates to twins. In pregnancies with more than two fetuses, the chorionicity and amnionicity of the each fetus may be different, and therefore this sign only aids in determining chorionicity of adjacent twins.

That's all! 

Thank you 

MD Mobarak Hussain (Maahii)