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Stem cells can develop into many cell types and act as the body’s repair system. They replace or restore damaged tissues, offering new possibilities for treating diseases.
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Diagnosing Myelodysplastic Syndromes is a meticulous process that requires distinguishing actual bone marrow failure from a host of other conditions that can mimic it. Vitamin deficiencies (B12, Folate), copper deficiency, viral infections (HIV, Parvovirus), autoimmune disorders, and medication side effects can all cause low blood counts and dysplastic-looking cells. Therefore, the diagnosis of MDS is often a “diagnosis of exclusion” combined with positive evidence of clonality.
The evaluation process is multi-tiered, moving from non-invasive blood tests to invasive bone marrow sampling, and finally to sophisticated genetic sequencing. This comprehensive workup is essential not only for naming the disease but also for assigning a prognosis. In the era of precision medicine, knowing the specific molecular drivers of a patient’s MDS is crucial for selecting the right therapeutic approach, particularly when considering regenerative stem cell transplantation.
The initial clue almost always comes from the Complete Blood Count (CBC).
The definitive diagnosis requires direct examination of the bone marrow. This procedure is typically performed at the posterior iliac crest (the back of the hip bone).
Once cells are obtained, they are cultured and their chromosomes are analyzed. This is known as karyotyping.
In patients with a normal karyotype, molecular testing has become indispensable. NGS allows for the scanning of dozens of genes known to be mutated in myeloid diseases.
Once all the data is gathered, clinicians use scoring systems to risk-stratify the patient. The most widely used is the IPSS-R (Revised International Prognostic Scoring System).
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The primary difference lies in the cancer’s origin and central location. Leukemia originates in the bone marrow and primarily affects the blood and bone marrow, circulating as liquid cancer. Lymphoma also originates from blood cells, but typically forms solid tumors in lymph nodes and other lymphoid tissues.
Lymphoma is generally not considered an inherited condition passed directly from parent to child. While having a close family member with lymphoma may slightly increase risk, the vast majority of cases arise from acquired genetic mutations that occur during a person’s lifetime due to environmental factors, infections, or random errors in cell division.
The main types are Metabolic Acidosis (too much acid, often kidney-related), Metabolic Alkalosis (too much base), Respiratory Acidosis (too much carbon dioxide from slow breathing), and Respiratory Alkalosis (too little carbon dioxide from fast breathing).
You should see a nephrologist if blood tests show a persistent acid-base problem, especially if you have an existing kidney condition like Chronic Kidney Disease (CKD) or if the disorder is metabolic. They specialise in the complex role the kidneys play in regulating pH.
Nephrology focuses on the kidney’s role in the long-term regulation of base (bicarbonate) and acid excretion. Pulmonology focuses on the lung’s role in the rapid regulation of carbon dioxide levels. Both are vital, but handle different parts of the Acid-Base control system.
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