Wednesday, April 7, 2021

DWI-FLAIR Mismatch on MRI for Unclear-Onset Strokes

Diffusion-Weighted Image (DWI) and Fluid-Attenuated Inversion Recovery Image (FLAIR) Mismatch on MRI can be used as a surrogate for the time of stroke onset for unclear-onset strokes or "wake up" (nocturnal) strokes.

Why?

Monday, March 22, 2021

Cystinuria VS Cystinosis - know the difference!

 Hi!


Cystinuria is an AR disorder that is characterized by defective absorption of cysteine and other di-basic amino acids from PCT and intestinal lumen.


Cystinosis, on the other hand, is a lysosomal storage disease characterized by accumulation of amino acid cystine.


Note :

Cysteine + Cysteine = Cystine.


Fact :

Cystinosis is one of the most common cause of Fanconi's syndrome in pediatric age group.


Also, check hexagonal crystals seen in


That's all

- Jaskunwar Singh

Interview questions for the residency match

All frequently asked questions are highlighted with (FAQ)
How to approach each question is explained below it
Disclaimer: All these questions are compiled from different sources and personal experiences.

Thursday, March 11, 2021

Genomic imprinting and Trinucleotide repeat -EXTRA EDGE

Hello Awesomites! 

1.Genomic imprinting IOC = methylation specific MLPA 

2.Trinucleotide repeat disorder = IOC is Trinucleotide primed PCR 

3.Fragile X Syndrome is XLR (mendelian inheritance) but once inherited during gametogenesis what happens is non - mendelian inheritance.

Confusing but thats the beauty. 

Can you tell me about Huntington disease what does mendelian and non mendelian inheritance mean? 

4.Angelman  that undergo whatever you learn (like maternal deletion and unipaternal disomy) involve chromosome 15 but gene is UBE3 ubiquitin protein. 

And praderwilli whatever you learn happens at chromosome 15 but gene is Sn RPN (small nuclear ribonucleoprotein polypeptide N)

 Hope it broadens your horizon.

-Dr.Upasana Y. 

Sunday, February 28, 2021

Essential tremor - a mnemonic.

Do you often forget the features of 'essential tremor'? Well shake no more, 'coz here's a mnemonic that will straighten things up for ya!