ANSWER FOR INHERITANCE QUESTION

Question:
Which pattern of  mendelian inheritance is commonly seen in enzyme deficiency disorders?

Answer:
Autosomal recessive

Genes are located in chromosomes. Normally all the body cells have two copies of each chromosome. So each gene also will have two copies in all the cells.These two copies are called alleles

If a disorder manifests even when a single allele is mutated it is called autosomal dominant disoder..
If a disorder manifests only when both the alleles are mutated it is called autosomal recessive disorder.

If only one allele of a enzyme coding gene is affected, only 50% of the enzyme synthesis is affected. Remaining 50%  enzyme synthesis will be normal as the other gene is normal. With this 50% normal enzymes itself cells will adjust and there is no disease.

But if both the gene alleles are mutated, 100% enzyme synthesis will be affected.. There will not be any normal enzyme. So the cells cannot adapt and disease will result.

Thus enzyme deficiency disease results only when both genes (alleles) are affected. Thus they are autosomal recessive..

First SMS answer: Akshya.G
First blog answer: Moshina Ajaz

So enzymes are often affected in autosomal recessive disorders. Now find out in your book what type of proteins are affected in autosomal dominant disorders..

PICK THE RIGHT ONE

Pick the right statement
1. Necrosis is always physiological
2. Apoptosis is always physiological
3. Intrinsic pathway of apoptosis occurs through caspase 9

PATHOLOGICAL NOMENCLATURE ANSWER

Heptoma is nothing but hepatocellular carcinoma which is malignant..

Hamartoma is a disorganised mass of tissue indigenous to the site of origin ex. a disorganised mass of lung tissue present in the lung itself and not in other organ. It was once thought as a developmental abnormality, but recent studies have shown that cells in hamartoma show clonal mutations. Since they show clonal mutations, they are also tumors only.

Choristoma is the presence of a body tissue in some other organ where it will not be normally seen. For example, if pancreatic tissue is found in stomach it is called choristoma. Since they do not show clonal mutations, they are not tumors. They are just a development anomaly.


First SMS answer: Padma Sushma
First Blog answer: Moshina

INHERITANCE

Which pattern of  mendelian inheritance is commonly seen in enzyme deficiency disorders?

PATHOLOGICAL NOMENCLATURE!

QUESTION: Which of the following are tumors, and if they are, which are malignant?
                       a. Hepatoma
                       b. Hamartoma
                       c. Choristoma

U R THE PATHOLOGIST TODAY!

Diagnose this slide which you have already seen in practicals..

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This has been solved!!
As most of you have guessed, it is casseous necrosis.
The exact diagnosis is tuberculous lymphadenitis  with caseous necrosis and granuloma.