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. 

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Ear Syringing

EAR IRRIGATION (SYRINGING)

REQUIREMENTS:   Water (temperature being as close to body temperature as possible), kidney tray, Simpson’s aural syringe/ 50 ml syringe attached to 16-18 gauze needle or pulsating water device, towel (if available)

PROCEDURE: 

• Examine the ear. 

(Do not irrigate if there is: severe pain, recent trauma or surgery or a dry perforation of tympanic membrane, inability of patient to sit upright, organic foreign body in the ear, opening into mastoid, severe otitis externa, history of middle ear disease, ear surgery, inner ear problems [vertigo] or radiation in the area) 

• Ask patient to sit upright. 

• Hold the pinna backwards and upwards in adults and backwards in children to straighten the ear canal.

• Keep a towel on the shoulder. 

• Use a kidney dish to catch solution.

• While irrigating direct the syringe towards the ear canal, postero-superiorly.  

  
  
  
  

• Apply firm and constant pressure to the syringe.

• Dry mop the ear and check it again to see if everything is out.  

  

Written by our guest author - Abhineet Desai

Illustration by Devi Bavishi

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