Philadelphia chro some
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"Philadelphia Chromosome"[MeSH Terms]
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Philadelphia chromosome National Cancer Institute BCR ABL leukemia
The Philadelphia chromosome (Ph chromosome) is an acquired genetic abnormality in blood-forming cells.
- It results from a reciprocal translocation: t(9;22)(q34;q11.2).
- A piece of chromosome 9 containing ABL1 joins chromosome 22 at BCR, creating the BCR::ABL1 fusion gene on an altered chromosome 22.
- The BCR::ABL1 protein is an abnormally active tyrosine kinase, driving uncontrolled proliferation of leukemic cells.
It is most strongly associated with:
| Disease | Association |
|---|---|
| Chronic myeloid leukemia (CML) | Present in almost all cases |
| Acute lymphoblastic leukemia (ALL) | Present in a subset, more often adults |
| Acute myeloid leukemia (AML) | Rare |
This finding is important because it enables targeted treatment with tyrosine-kinase inhibitors such as imatinib, dasatinib, nilotinib, or ponatinib, depending on the disease and mutation profile. The NCI explanation of BCR::ABL1 describes the chromosome 9 and 22 exchange and the resulting fusion gene.
It is not usually inherited. It develops during life in bone-marrow cells, so it is a somatic mutation.
Recent reviews address response to tyrosine kinase inhibitors in complex BCR::ABL1 rearrangements (PMID: 38636337) and the distribution of BCR::ABL1 transcript types in CML (PMID: 38397221).
Howell jolly bodies seen in
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"Howell-Jolly Bodies"
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Howell-Jolly bodies asplenia megaloblastic anemia peripheral smear
Howell-Jolly bodies are seen mainly in:
- Post-splenectomy
- Functional hyposplenism/asplenia, classically sickle cell disease due to splenic infarction and atrophy
- Megaloblastic anemia due to vitamin B12 or folate deficiency
- Sometimes in hemolytic anemia or severe ineffective erythropoiesis
They are small, round, basophilic nuclear DNA remnants in red blood cells. Normally, the spleen removes them, so their presence suggests reduced splenic filtering function. The NCBI peripheral-smear reference particularly associates them with splenectomy, hyposplenism, and, less commonly, megaloblastic anemia.
Corticosteroid types
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corticosteroids AND classification
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corticosteroids types glucocorticoids mineralocorticoids NIH
Corticosteroids are adrenal-cortex steroid hormones, divided into two main types:
| Type | Main action | Natural example | Common drugs |
|---|---|---|---|
| Glucocorticoids | Regulate metabolism; suppress inflammation and immune activity | Cortisol | Hydrocortisone, prednisolone, methylprednisolone, dexamethasone, betamethasone |
| Mineralocorticoids | Retain sodium and water, excrete potassium and hydrogen, maintain blood volume/BP | Aldosterone | Fludrocortisone, deoxycorticosterone |
Glucocorticoids by duration of action
- Short acting: hydrocortisone, cortisone
- Intermediate acting: prednisolone, prednisone, methylprednisolone, triamcinolone
- Long acting: dexamethasone, betamethasone
Some glucocorticoids have both effects. For example, hydrocortisone has appreciable glucocorticoid and mineralocorticoid activity, whereas dexamethasone has very high glucocorticoid activity with negligible mineralocorticoid action.
The NCBI corticosteroid overview similarly classifies their actions as glucocorticoid and mineralocorticoid.
Rhd criteria
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acute rheumatic fever AND Jones criteria
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2023 2024 acute rheumatic fever revised Jones criteria AHA diagnosis
For acute rheumatic fever (ARF), which can lead to rheumatic heart disease (RHD), use the revised Jones criteria.
Diagnosis of an initial ARF episode
Requires:
- Evidence of preceding group A streptococcal (GAS) infection, such as positive throat culture/rapid antigen test, or raised/rising ASO or anti-DNase B titre
plus - Either:
- 2 major criteria, or
- 1 major + 2 minor criteria
Major criteria
- Carditis or subclinical carditis on Doppler echocardiography
- Arthritis
- Sydenham chorea
- Erythema marginatum
- Subcutaneous nodules
Minor criteria
| Low-risk population | Moderate/high-risk population |
|---|---|
| Polyarthralgia | Monoarthralgia |
| Fever ≥38.5°C | Fever ≥38.0°C |
| ESR ≥60 mm/h and/or CRP ≥3 mg/dL | ESR ≥30 mm/h and/or CRP ≥3 mg/dL |
| Prolonged PR interval on ECG, if carditis is not counted as a major criterion | Same |
Difference in arthritis criterion
- Low-risk: only polyarthritis is a major criterion.
- Moderate/high-risk: monoarthritis, polyarthritis, or polyarthralgia may count as a major criterion.
Important exceptions
- Sydenham chorea alone, after other causes are excluded, can establish ARF even without evidence of preceding GAS infection.
- Indolent carditis may also be diagnosed as ARF in appropriate cases.
- In suspected or confirmed ARF, perform Doppler echocardiography, even if no murmur is heard.
For recurrent ARF, evidence of preceding GAS infection plus any of the following is used:
- 2 major, or
- 1 major + 2 minor, or
- 3 minor criteria.
The CDC Jones criteria guidance uses the 2015 AHA revised criteria.
Who biots stops classification
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Do you mean abnormal breathing patterns, such as Cheyne-Stokes respiration and Biot respiration, or a different classification?
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