PNH is caused by a somatic mutation in the PIG-A gene in a hematopoietic stem cell, resulting in blood cells that lack glycosylphosphatidylinositol (GPI)-anchored proteins. These proteins include complement regulatory factors CD55 and CD59. As a result, PNH red blood cells are susceptible to complement-mediated hemolysis, leading to chronic hemolytic anemia. PNH often presents with hemoglobinuria, abdominal pain, dysphagia, and cytopenias. It is associated with aplastic anemia and carries a risk of thrombosis. The defect arises from a mutation in the PIG-A gene, which codes for an enzyme essential for GPI
Approach to pancytopenia .Dr ABHIJEET BARUA MD PGT.KOL.MED.CLG.ABHIJEET BARUA
Pancytopenia is a reduction in red blood cells, white blood cells, and platelets caused by decreased bone marrow production or destruction of blood cells. Evaluation of pancytopenia involves examining the complete blood count, peripheral smear, and bone marrow aspiration and biopsy to determine if the cause is aplasia, deficiencies, infections, infiltrative disorders, or primary bone marrow diseases like myelodysplastic syndrome. Management depends on the underlying etiology based on history, examination, and specific diagnostic tests.
Essential thrombocythemia (2019) by Dr Shami Bhagat SKIMSDr Shami Bhagat
1) Essential thrombocythemia (ET) is a chronic myeloproliferative neoplasm characterized by overproduction of platelets from a multipotent hematopoietic stem cell. It has a tendency for thrombosis and hemorrhage.
2) The main causes of ET are mutations in JAK2, CALR, and MPL genes which lead to autonomous platelet production.
3) Treatment involves low dose aspirin to prevent thrombosis and cytoreductive agents like hydroxyurea or interferon to reduce platelet counts and prevent complications. Treatment is aimed at symptom control and thrombosis prevention rather than cure.
Dr Sarath Menon presents an approach to diagnosing and classifying hemolytic anemia. Hemolytic anemia results from increased red blood cell destruction and bone marrow compensation. It can be congenital/hereditary or acquired. Classification includes intracorpuscular defects like hemoglobinopathies and enzymopathies, and extracorpuscular factors like mechanical destruction, toxic agents, infections, and autoimmune causes. Diagnosis involves confirming hemolysis and determining the etiology through history, physical exam, peripheral smear, and ancillary lab tests. Common etiologies discussed in detail include sickle cell disease, thalassemia, G6PD deficiency, membrane defects like hereditary spherocytosis, and autoimmune
This document provides an overview of pancytopenia, including definitions, common causes, clinical evaluation, and diagnostic approach. Pancytopenia is defined as a reduction in all three blood cell lines. The evaluation involves obtaining a complete blood count with peripheral smear, bone marrow aspiration and biopsy, and specific tests depending on findings. The bone marrow examination can help differentiate causes based on cellularity and features seen in erythropoiesis, myelopoiesis, megakaryopoiesis and other cell types. Common causes include bone marrow failure, infiltrative disorders, infections, immune disorders and nutritional deficiencies. A thorough history, examination and systematic evaluation of the bone marrow are required to identify the underlying cause of pancy
Paroxysmal nocturnal hemoglobinuria (PNH) is a rare, acquired hematopoietic stem cell disorder characterized by hemolytic anemia. It arises due to a somatic mutation in the PIGA gene, causing deficiency of glycosylphosphatidylinositol-anchored proteins (GPI-APs) like CD55 and CD59 on the surface of blood cells. This renders the cells highly sensitive to complement-mediated lysis. Diagnosis involves flow cytometry to detect GPI-AP deficiency and tests like Ham and sucrose hemolysis to demonstrate complement sensitivity of the red blood cells. PNH is associated with hemoglobinuria, thrombosis, and bone marrow failure. It requires differentiation
1) Flow cytometry is used to measure multiple physical and chemical properties of cells in a fluid stream at a rate of thousands of cells per second. It is used to diagnose and classify leukemias based on antigen expression.
2) In leukemias, abnormal antigen expression patterns can include gain of antigens not normally expressed, abnormally increased or decreased levels of expression, or asynchronous antigen expression.
3) Flow cytometry utilizes light scattering and fluorescence to identify cell size, granularity, lineage, and maturation stage based on antigen expression. This immunophenotyping is essential for diagnosing and distinguishing between different types of leukemias.
This document discusses hypercoagulable states (thrombophilia). It presents two case studies of patients presenting with deep vein thrombosis (DVT). It then defines thrombophilia as a disorder associated with an increased tendency to form blood clots. The document reviews hemostasis and coagulation mechanisms, inherited and acquired risk factors for hypercoagulability, and recommends a stepwise approach to thrombophilia testing that considers the clinical scenario and implications of testing.
This document provides an overview of pancytopenia, including its definition, etiology, clinical presentation, diagnostic workup, and treatment approach. Pancytopenia is defined as a low hemoglobin, white blood cell count, and platelet count. It can be caused by primary bone marrow diseases or secondary to other conditions that impair bone marrow function. The diagnostic workup involves blood tests, peripheral smear examination, bone marrow aspiration and biopsy for cytogenetics and immunophenotyping to identify the underlying cause. Specific tests help diagnose conditions like Fanconi anemia, lymphoproloferative disorders, and paroxysmal nocturnal hemoglobinuria. Treatment is directed at managing the specific disease identified as the cause
Approach to pancytopenia .Dr ABHIJEET BARUA MD PGT.KOL.MED.CLG.ABHIJEET BARUA
Pancytopenia is a reduction in red blood cells, white blood cells, and platelets caused by decreased bone marrow production or destruction of blood cells. Evaluation of pancytopenia involves examining the complete blood count, peripheral smear, and bone marrow aspiration and biopsy to determine if the cause is aplasia, deficiencies, infections, infiltrative disorders, or primary bone marrow diseases like myelodysplastic syndrome. Management depends on the underlying etiology based on history, examination, and specific diagnostic tests.
Essential thrombocythemia (2019) by Dr Shami Bhagat SKIMSDr Shami Bhagat
1) Essential thrombocythemia (ET) is a chronic myeloproliferative neoplasm characterized by overproduction of platelets from a multipotent hematopoietic stem cell. It has a tendency for thrombosis and hemorrhage.
2) The main causes of ET are mutations in JAK2, CALR, and MPL genes which lead to autonomous platelet production.
3) Treatment involves low dose aspirin to prevent thrombosis and cytoreductive agents like hydroxyurea or interferon to reduce platelet counts and prevent complications. Treatment is aimed at symptom control and thrombosis prevention rather than cure.
Dr Sarath Menon presents an approach to diagnosing and classifying hemolytic anemia. Hemolytic anemia results from increased red blood cell destruction and bone marrow compensation. It can be congenital/hereditary or acquired. Classification includes intracorpuscular defects like hemoglobinopathies and enzymopathies, and extracorpuscular factors like mechanical destruction, toxic agents, infections, and autoimmune causes. Diagnosis involves confirming hemolysis and determining the etiology through history, physical exam, peripheral smear, and ancillary lab tests. Common etiologies discussed in detail include sickle cell disease, thalassemia, G6PD deficiency, membrane defects like hereditary spherocytosis, and autoimmune
This document provides an overview of pancytopenia, including definitions, common causes, clinical evaluation, and diagnostic approach. Pancytopenia is defined as a reduction in all three blood cell lines. The evaluation involves obtaining a complete blood count with peripheral smear, bone marrow aspiration and biopsy, and specific tests depending on findings. The bone marrow examination can help differentiate causes based on cellularity and features seen in erythropoiesis, myelopoiesis, megakaryopoiesis and other cell types. Common causes include bone marrow failure, infiltrative disorders, infections, immune disorders and nutritional deficiencies. A thorough history, examination and systematic evaluation of the bone marrow are required to identify the underlying cause of pancy
Paroxysmal nocturnal hemoglobinuria (PNH) is a rare, acquired hematopoietic stem cell disorder characterized by hemolytic anemia. It arises due to a somatic mutation in the PIGA gene, causing deficiency of glycosylphosphatidylinositol-anchored proteins (GPI-APs) like CD55 and CD59 on the surface of blood cells. This renders the cells highly sensitive to complement-mediated lysis. Diagnosis involves flow cytometry to detect GPI-AP deficiency and tests like Ham and sucrose hemolysis to demonstrate complement sensitivity of the red blood cells. PNH is associated with hemoglobinuria, thrombosis, and bone marrow failure. It requires differentiation
1) Flow cytometry is used to measure multiple physical and chemical properties of cells in a fluid stream at a rate of thousands of cells per second. It is used to diagnose and classify leukemias based on antigen expression.
2) In leukemias, abnormal antigen expression patterns can include gain of antigens not normally expressed, abnormally increased or decreased levels of expression, or asynchronous antigen expression.
3) Flow cytometry utilizes light scattering and fluorescence to identify cell size, granularity, lineage, and maturation stage based on antigen expression. This immunophenotyping is essential for diagnosing and distinguishing between different types of leukemias.
This document discusses hypercoagulable states (thrombophilia). It presents two case studies of patients presenting with deep vein thrombosis (DVT). It then defines thrombophilia as a disorder associated with an increased tendency to form blood clots. The document reviews hemostasis and coagulation mechanisms, inherited and acquired risk factors for hypercoagulability, and recommends a stepwise approach to thrombophilia testing that considers the clinical scenario and implications of testing.
This document provides an overview of pancytopenia, including its definition, etiology, clinical presentation, diagnostic workup, and treatment approach. Pancytopenia is defined as a low hemoglobin, white blood cell count, and platelet count. It can be caused by primary bone marrow diseases or secondary to other conditions that impair bone marrow function. The diagnostic workup involves blood tests, peripheral smear examination, bone marrow aspiration and biopsy for cytogenetics and immunophenotyping to identify the underlying cause. Specific tests help diagnose conditions like Fanconi anemia, lymphoproloferative disorders, and paroxysmal nocturnal hemoglobinuria. Treatment is directed at managing the specific disease identified as the cause
Paroxysmal nocturnal hemoglobinuria (PNH) is a rare blood disorder characterized by the breakdown of red blood cells in the bloodstream, causing dark urine. It results from a genetic mutation in stem cells, making red blood cells vulnerable to destruction by the immune system. Symptoms include dark urine, back pain, headaches, and easy bruising. Diagnosis involves blood tests to detect low red and white blood cell counts. Treatment options include blood transfusions, blood thinners like eculizumab to prevent cell breakdown, and bone marrow transplants to cure the disease.
This document provides an overview of myelodysplastic syndrome (MDS). It discusses the history and changing definitions of MDS, current WHO classification, clinical features, pathogenesis involving genetic and epigenetic abnormalities, dysplastic changes seen in the bone marrow, and identification of blast cells. MDS is a heterogenous stem cell disorder characterized by cytopenias, dysplasia, and increased risk of acute myeloid leukemia. The disease results from acquired mutations in hematopoietic stem/progenitor cells and involves dysregulated apoptosis, ineffective hematopoiesis, and genetic and epigenetic changes.
PNH is a rare acquired hemolytic disorder caused by a somatic mutation in the PIG-A gene, resulting in a deficiency of glycosylphosphatidylinositol (GPI)-anchored proteins on the surface of blood cells. This renders the cells susceptible to complement-mediated lysis. PNH is characterized by hemolytic anemia, thrombophilia, and bone marrow failure. Diagnosis is made through flow cytometry to detect the absence of GPI-anchored proteins CD55 and CD59 on red blood cells. Treatment involves blood transfusions, anticoagulation therapy, and complement inhibition with eculizumab which significantly reduces hemolysis.
Aplastic anemia is a condition where the bone marrow fails to produce sufficient new blood cells, leading to low blood cell counts and fatigue. It can be classified as idiopathic, secondary to drug reactions or infections, or constitutional/congenital forms like Fanconi anemia. Fanconi anemia is a genetic disorder characterized by bone marrow failure, physical abnormalities, and cancer predisposition. Diagnosis involves blood tests showing low cell counts and a bone marrow biopsy displaying a hypocellular marrow. Treatment options include blood transfusions, immunosuppressive drugs, and bone marrow transplantation.
Paroxysmal nocturnal hemoglobinuria (PNH) is a rare, acquired hematopoietic stem cell disorder characterized by hemolytic anemia. It arises due to a somatic mutation in the PIGA gene, causing deficiency of glycosylphosphatidylinositol-anchored proteins like CD55 and CD59 on the surface of blood cells. This renders the cells highly sensitive to destruction by the complement system, leading to intravascular hemolysis, hemoglobinuria, and thrombosis. Diagnosis involves flow cytometry to detect CD55- and CD59-deficient blood cells, as well as markers of hemolysis like increased LDH and low haptoglobin. Differentiating PNH from
Pancytopenia is a reduction in red blood cells, white blood cells, and platelets. The document outlines an approach to evaluating a case of pancytopenia, including considering decreased bone marrow production, increased cell destruction, a thorough history and physical exam, and diagnostic tests like complete blood count, peripheral smear, and bone marrow aspiration and biopsy to determine the underlying cause. The causes of pancytopenia are grouped based on mechanism and include conditions like aplastic anemia, megaloblastic anemia, myelodysplastic syndrome, liver disease, and others.
This document discusses aplastic anemia, a bone marrow failure syndrome characterized by pancytopenia. It defines aplastic anemia as a failure of the bone marrow to produce sufficient blood cells, resulting in low red blood cells, white blood cells, and platelets. The causes include stem cell defects, bone marrow suppression by drugs or radiation, bone marrow infiltration by cancer cells, and immune-mediated destruction of hematopoietic stem cells. Aplastic anemia is evaluated based on symptoms of anemia, bleeding, and infections, along with low blood counts and a hypoplastic bone marrow on biopsy with less than 25% cellularity.
Approch to Hematuria in pediatric age groupMohammed Saadi
The document defines hematuria and its types, identifies common causes like UTIs and glomerulonephritis, and outlines the approach to evaluating and managing a patient with hematuria. This involves taking a thorough history, conducting a physical exam, ordering urine and blood tests to identify the cause, and treating any underlying conditions found like cystitis, pyelonephritis, or acute glomerulonephritis. Imaging tests may also be used to identify issues like stones, tumors, or structural abnormalities.
1) A 1.5 month boy presented with fever and pancytopenia. Examination found pallor. Blood tests found normocytic anemia, leukopenia, thrombocytopenia.
2) Bone marrow aspiration found erythroid dysplasia and megaloblastosis. Chromosomal breakage study and karyotyping were normal.
3) Flow cytometry found B cell immune deficiency. The pancytopenia and symptoms improved with supportive care.
4) Genetic testing in Germany found a MYSM1 mutation, which has been associated with bone marrow failure and immunodeficiency. The patient will require long term supportive care including transfusions, immunoglobulins and G
This document discusses an approach to diagnosing hemolytic anemia. The first step is to check the reticulocyte count to determine if the anemia is due to decreased red blood cell production or increased destruction. If the reticulocyte count is increased, a direct Coombs test is done. The peripheral blood smear is also examined to confirm or support the diagnosis. Based on Coombs test results, the cause of hemolysis can be intrinsic or extrinsic to the red blood cells. Additional tests are then used to determine the specific etiology or cause of hemolytic anemia.
1. A 12-year-old girl presented with fever, lethargy, gum bleeding, and epistaxis. On examination, she had pallor, petechiae, hepatomegaly, and hyperpigmented knuckles.
2. Laboratory findings showed pancytopenia, macroovalocytes on peripheral smear, and low serum B12 and folate levels. Bone marrow aspiration showed megaloblastic erythroid precursors and giant myelocytes/metamyelocytes.
3. Based on the findings, she was diagnosed with megaloblastic anemia secondary to vitamin B12 and folate deficiency. Treatment involves vitamin B12 and folate supplementation.
The document describes a case of a 42-year-old man presenting with breathlessness and anemia who was diagnosed with a mediastinal mass (thymoma) and pure red cell aplasia (PRCA) based on bone marrow findings. He underwent thymectomy and was treated with steroids for his PRCA. PRCA is a rare cause of normocytic normochromic anemia characterized by absence of erythroblasts in the bone marrow that can be associated with thymoma and treated with steroids, IVIG, or surgery.
Thrombophilias are hypercoagulable conditions that can be acquired or inherited. Most important hypercoagulable conditions =, testing procedures, duration of anticoagulation will be discussed here. Useful for Internal Medicine Boards and Hematology boards. Some aspects on duration of anticoagulation, HIT are high-yield for USMLE exams.
This document discusses antinuclear antibodies (ANAs), which are autoantibodies that bind to contents of the cell nucleus. There are many subtypes of ANAs that bind to different nuclear proteins. Indirect immunofluorescence is the reference method for detecting ANAs using three tissues and viewing under fluorescence microscopy, where positive samples show apple-green fluorescence in distinctive patterns associated with particular antigens and diseases. ANA testing is important for diagnosing and managing autoimmune conditions but can also be present in normal individuals so results need accurate interpretation.
Paroxysmal nocturnal hemoglobinuria (PNH) is a rare, acquired hematopoietic stem cell disorder characterized by hemolytic anemia, bone marrow failure, and thrombosis. It results from a somatic mutation in the PIG-A gene, leading to a deficiency in glycosylphosphatidylinositol-anchored proteins on the surface of blood cells. This renders the cells susceptible to complement-mediated lysis, causing intravascular hemolysis. Diagnosis involves flow cytometry to detect the deficient proteins on red blood cells and granulocytes. Management focuses on treating anemia, thrombosis, and infections, with complement inhibitors now providing an effective targeted treatment option. PNH has a
Refractory anemia is a subtype of myelodysplastic syndrome characterized by non-responsiveness to conventional anemia treatment. It is defined by less than 5% blasts in the bone marrow and less than 1% in the peripheral blood. Refractory anemia involves dysplasia primarily affecting the erythroid lineage. Evaluation includes blood counts, peripheral smear, bone marrow biopsy and cytogenetic testing to confirm the diagnosis and guide prognosis. Management focuses on treating the anemia and related symptoms.
Paroxysmal nocturnal hemoglobinuria (PNH) is a rare, acquired blood disorder characterized by complement-induced hemolytic anemia, red urine, and thrombosis. It results from a genetic mutation causing blood cells to be missing a protein that protects them from destruction. Thrombocytopenia, or low platelet count, occurs in 40% of PNH patients and is a major cause of complications and death. Testing for PNH includes flow cytometry to detect affected blood cells and treatments focus on supportive care, monoclonal antibodies, immunosuppressants, or bone marrow transplantation.
PNH is a rare blood disorder caused by a genetic mutation affecting the biosynthesis of glycosylphosphatidylinositol (GPI)-anchored proteins. This results in deficiencies of CD55 and CD59 on the surface of red blood cells, making them susceptible to complement-mediated hemolysis. Clinical manifestations include anemia, hemoglobinuria, thrombosis, and abdominal pain. Chronic hemolysis can also lead to complications such as renal failure, pulmonary hypertension, and impaired quality of life. Diagnosis involves detecting deficient GPI-anchored proteins on red blood cells using flow cytometry.
Paroxysmal nocturnal hemoglobinuria (PNH) is a rare blood disorder characterized by the breakdown of red blood cells in the bloodstream, causing dark urine. It results from a genetic mutation in stem cells, making red blood cells vulnerable to destruction by the immune system. Symptoms include dark urine, back pain, headaches, and easy bruising. Diagnosis involves blood tests to detect low red and white blood cell counts. Treatment options include blood transfusions, blood thinners like eculizumab to prevent cell breakdown, and bone marrow transplants to cure the disease.
This document provides an overview of myelodysplastic syndrome (MDS). It discusses the history and changing definitions of MDS, current WHO classification, clinical features, pathogenesis involving genetic and epigenetic abnormalities, dysplastic changes seen in the bone marrow, and identification of blast cells. MDS is a heterogenous stem cell disorder characterized by cytopenias, dysplasia, and increased risk of acute myeloid leukemia. The disease results from acquired mutations in hematopoietic stem/progenitor cells and involves dysregulated apoptosis, ineffective hematopoiesis, and genetic and epigenetic changes.
PNH is a rare acquired hemolytic disorder caused by a somatic mutation in the PIG-A gene, resulting in a deficiency of glycosylphosphatidylinositol (GPI)-anchored proteins on the surface of blood cells. This renders the cells susceptible to complement-mediated lysis. PNH is characterized by hemolytic anemia, thrombophilia, and bone marrow failure. Diagnosis is made through flow cytometry to detect the absence of GPI-anchored proteins CD55 and CD59 on red blood cells. Treatment involves blood transfusions, anticoagulation therapy, and complement inhibition with eculizumab which significantly reduces hemolysis.
Aplastic anemia is a condition where the bone marrow fails to produce sufficient new blood cells, leading to low blood cell counts and fatigue. It can be classified as idiopathic, secondary to drug reactions or infections, or constitutional/congenital forms like Fanconi anemia. Fanconi anemia is a genetic disorder characterized by bone marrow failure, physical abnormalities, and cancer predisposition. Diagnosis involves blood tests showing low cell counts and a bone marrow biopsy displaying a hypocellular marrow. Treatment options include blood transfusions, immunosuppressive drugs, and bone marrow transplantation.
Paroxysmal nocturnal hemoglobinuria (PNH) is a rare, acquired hematopoietic stem cell disorder characterized by hemolytic anemia. It arises due to a somatic mutation in the PIGA gene, causing deficiency of glycosylphosphatidylinositol-anchored proteins like CD55 and CD59 on the surface of blood cells. This renders the cells highly sensitive to destruction by the complement system, leading to intravascular hemolysis, hemoglobinuria, and thrombosis. Diagnosis involves flow cytometry to detect CD55- and CD59-deficient blood cells, as well as markers of hemolysis like increased LDH and low haptoglobin. Differentiating PNH from
Pancytopenia is a reduction in red blood cells, white blood cells, and platelets. The document outlines an approach to evaluating a case of pancytopenia, including considering decreased bone marrow production, increased cell destruction, a thorough history and physical exam, and diagnostic tests like complete blood count, peripheral smear, and bone marrow aspiration and biopsy to determine the underlying cause. The causes of pancytopenia are grouped based on mechanism and include conditions like aplastic anemia, megaloblastic anemia, myelodysplastic syndrome, liver disease, and others.
This document discusses aplastic anemia, a bone marrow failure syndrome characterized by pancytopenia. It defines aplastic anemia as a failure of the bone marrow to produce sufficient blood cells, resulting in low red blood cells, white blood cells, and platelets. The causes include stem cell defects, bone marrow suppression by drugs or radiation, bone marrow infiltration by cancer cells, and immune-mediated destruction of hematopoietic stem cells. Aplastic anemia is evaluated based on symptoms of anemia, bleeding, and infections, along with low blood counts and a hypoplastic bone marrow on biopsy with less than 25% cellularity.
Approch to Hematuria in pediatric age groupMohammed Saadi
The document defines hematuria and its types, identifies common causes like UTIs and glomerulonephritis, and outlines the approach to evaluating and managing a patient with hematuria. This involves taking a thorough history, conducting a physical exam, ordering urine and blood tests to identify the cause, and treating any underlying conditions found like cystitis, pyelonephritis, or acute glomerulonephritis. Imaging tests may also be used to identify issues like stones, tumors, or structural abnormalities.
1) A 1.5 month boy presented with fever and pancytopenia. Examination found pallor. Blood tests found normocytic anemia, leukopenia, thrombocytopenia.
2) Bone marrow aspiration found erythroid dysplasia and megaloblastosis. Chromosomal breakage study and karyotyping were normal.
3) Flow cytometry found B cell immune deficiency. The pancytopenia and symptoms improved with supportive care.
4) Genetic testing in Germany found a MYSM1 mutation, which has been associated with bone marrow failure and immunodeficiency. The patient will require long term supportive care including transfusions, immunoglobulins and G
This document discusses an approach to diagnosing hemolytic anemia. The first step is to check the reticulocyte count to determine if the anemia is due to decreased red blood cell production or increased destruction. If the reticulocyte count is increased, a direct Coombs test is done. The peripheral blood smear is also examined to confirm or support the diagnosis. Based on Coombs test results, the cause of hemolysis can be intrinsic or extrinsic to the red blood cells. Additional tests are then used to determine the specific etiology or cause of hemolytic anemia.
1. A 12-year-old girl presented with fever, lethargy, gum bleeding, and epistaxis. On examination, she had pallor, petechiae, hepatomegaly, and hyperpigmented knuckles.
2. Laboratory findings showed pancytopenia, macroovalocytes on peripheral smear, and low serum B12 and folate levels. Bone marrow aspiration showed megaloblastic erythroid precursors and giant myelocytes/metamyelocytes.
3. Based on the findings, she was diagnosed with megaloblastic anemia secondary to vitamin B12 and folate deficiency. Treatment involves vitamin B12 and folate supplementation.
The document describes a case of a 42-year-old man presenting with breathlessness and anemia who was diagnosed with a mediastinal mass (thymoma) and pure red cell aplasia (PRCA) based on bone marrow findings. He underwent thymectomy and was treated with steroids for his PRCA. PRCA is a rare cause of normocytic normochromic anemia characterized by absence of erythroblasts in the bone marrow that can be associated with thymoma and treated with steroids, IVIG, or surgery.
Thrombophilias are hypercoagulable conditions that can be acquired or inherited. Most important hypercoagulable conditions =, testing procedures, duration of anticoagulation will be discussed here. Useful for Internal Medicine Boards and Hematology boards. Some aspects on duration of anticoagulation, HIT are high-yield for USMLE exams.
This document discusses antinuclear antibodies (ANAs), which are autoantibodies that bind to contents of the cell nucleus. There are many subtypes of ANAs that bind to different nuclear proteins. Indirect immunofluorescence is the reference method for detecting ANAs using three tissues and viewing under fluorescence microscopy, where positive samples show apple-green fluorescence in distinctive patterns associated with particular antigens and diseases. ANA testing is important for diagnosing and managing autoimmune conditions but can also be present in normal individuals so results need accurate interpretation.
Paroxysmal nocturnal hemoglobinuria (PNH) is a rare, acquired hematopoietic stem cell disorder characterized by hemolytic anemia, bone marrow failure, and thrombosis. It results from a somatic mutation in the PIG-A gene, leading to a deficiency in glycosylphosphatidylinositol-anchored proteins on the surface of blood cells. This renders the cells susceptible to complement-mediated lysis, causing intravascular hemolysis. Diagnosis involves flow cytometry to detect the deficient proteins on red blood cells and granulocytes. Management focuses on treating anemia, thrombosis, and infections, with complement inhibitors now providing an effective targeted treatment option. PNH has a
Refractory anemia is a subtype of myelodysplastic syndrome characterized by non-responsiveness to conventional anemia treatment. It is defined by less than 5% blasts in the bone marrow and less than 1% in the peripheral blood. Refractory anemia involves dysplasia primarily affecting the erythroid lineage. Evaluation includes blood counts, peripheral smear, bone marrow biopsy and cytogenetic testing to confirm the diagnosis and guide prognosis. Management focuses on treating the anemia and related symptoms.
Paroxysmal nocturnal hemoglobinuria (PNH) is a rare, acquired blood disorder characterized by complement-induced hemolytic anemia, red urine, and thrombosis. It results from a genetic mutation causing blood cells to be missing a protein that protects them from destruction. Thrombocytopenia, or low platelet count, occurs in 40% of PNH patients and is a major cause of complications and death. Testing for PNH includes flow cytometry to detect affected blood cells and treatments focus on supportive care, monoclonal antibodies, immunosuppressants, or bone marrow transplantation.
PNH is a rare blood disorder caused by a genetic mutation affecting the biosynthesis of glycosylphosphatidylinositol (GPI)-anchored proteins. This results in deficiencies of CD55 and CD59 on the surface of red blood cells, making them susceptible to complement-mediated hemolysis. Clinical manifestations include anemia, hemoglobinuria, thrombosis, and abdominal pain. Chronic hemolysis can also lead to complications such as renal failure, pulmonary hypertension, and impaired quality of life. Diagnosis involves detecting deficient GPI-anchored proteins on red blood cells using flow cytometry.
This document discusses aplastic anemia, which is a failure of the bone marrow to produce sufficient new blood cells, leading to pancytopenia (low red blood cells, white blood cells, and platelets). It may be idiopathic or secondary to drugs, radiation, infections, or immune diseases. Symptoms include anemia, infections, and bleeding. Diagnosis involves a bone marrow biopsy showing hypoplastic marrow. Treatment options include supportive care with transfusions, immunosuppressive drugs like antithymocyte globulin, bone marrow transplantation, and growth factors.
Este documento apresenta os princípios e objetivos da Política Nacional de Humanização do Sistema Único de Saúde brasileiro, visando promover uma atenção à saúde humanizada, centrada nas necessidades dos usuários. A política busca a valorização dos profissionais e gestores, o fortalecimento do trabalho em equipe e das redes de atenção, e a autonomia e participação dos diferentes atores no sistema.
Paroxysmal nocturnal haemoglobinuria (PNH) and aplastic anaemia (AA) are conditions characterized by haemolytic anaemia, thrombosis, and pancytopenia. PNH results from a somatic mutation in the PIG-A gene, impairing glycosylphosphatidylinositol (GPI) anchoring of proteins on cell surfaces. AA is an autoimmune disease causing bone marrow failure. Both conditions can involve defects in complement regulation and coagulation due to loss of GPI-anchored proteins. PNH and AA may occur together due to both an autoimmune attack on stem cells and a PIG-A mutation.
Prof. heba raslan high sensitivity testing for paroxysmal nocturnal hemoglo...Hitham Esam
This document provides information on high sensitivity testing for Paroxysmal Nocturnal Hemoglobinuria (PNH) using flow cytometry. It discusses the disease mechanism and indications for testing. Key points include:
- PNH is a rare blood disease caused by a lack of GPI-anchored proteins on the surface of blood cells due to a genetic mutation, making red blood cells vulnerable to complement-mediated lysis.
- International guidelines have been developed for optimizing PNH testing using flow cytometry to detect clones of deficient blood cells through the use of GPI-linked antibodies and analysis of granulocytes, monocytes, and red blood cells.
- Validation methods including titration of reagents
aplastic anemia pediatrics
It compromises a group of disorders of the hematopoietic stem cells resulting in the suppression of one or more of erythroid, myeloid and megakaryotic cell lines.
thrombocytopenia
O documento discute os desafios da humanização no sistema público de saúde brasileiro, como a fragmentação dos processos de trabalho e relações entre profissionais. Descreve iniciativas do Ministério da Saúde e estados para promover a humanização, como a criação de comitês e programas desde 2000. Apresenta princípios da humanização como acolhimento, atenção integral e participação dos usuários e trabalhadores.
Programa de Formação em Saúde do TrabalhadorArte Despertar
Este documento discute a formação de grupos no ambiente de trabalho e sua relação com a saúde dos trabalhadores. Em 3 frases:
1) Questiona se os grupos de trabalho são formados apenas para manter o status quo ou podem ser espaços para mudança e invenção de novas práticas que promovam a saúde dos trabalhadores.
2) Defende que os grupos devem ser vistos como caminhos para compartilhar experiências e responsabilidades, onde os trabalhadores podem expressar saberes e enfrentar problemas de forma coletiva.
Este documento descreve um programa de humanização do atendimento em saúde. Ele discute a importância de se considerar não apenas os aspectos técnicos e científicos no atendimento, mas também os aspectos humanos e relacionais. O documento define humanização como o atendimento que considera o paciente como um todo, incluindo sua realidade psicossocial, e que preserva a dignidade do paciente. O objetivo do programa é promover um atendimento de qualidade centrado na individualidade e nas necessidades do paciente.
Este documento apresenta os princípios e dispositivos da Política Nacional de Humanização da Atenção e Gestão do SUS (HumanizaSUS), que visa promover a valorização dos usuários, trabalhadores e gestores do SUS, o fortalecimento do trabalho em equipe, e a construção de redes solidárias e participativas no sistema de saúde. Os principais dispositivos incluem acolhimento com classificação de risco, equipes de referência e apoio matricial, projeto terapêutico singular, e grupos de trabalho de humanização. O objetivo é as
Aplastic anemia comprises disorders of hematopoietic stem cells resulting in suppression of red blood cells, white blood cells, and platelets. It can be inherited or acquired from viruses, toxins, chemicals, or immune-mediated causes. Clinically, it presents as pancytopenia and bone marrow hypocellularity. Definitive treatment is hematopoietic stem cell transplant, which has better outcomes when using cells from an HLA-identical sibling donor. Without treatment, prognosis depends on severity of cytopenias and presence of risk factors.
Palestra realizada pela Dra. Izabel Cristina Rios, do Comitê HumanizaHC - FMUSP, na Sala Coral, no dia 11 de julho de 2009.
6º Congresso de Humanização da Saúde em Ação - realizado pela HC-FMUSP e Associação Viva e Deixe Viver
Este documento apresenta informações sobre a humanização do parto no Estado de Pernambuco, definindo o que é a humanização do parto, os direitos da gestante e do bebê, como as unidades de saúde e profissionais devem agir, e quando o parto normal ou cesárea são indicados.
Budd-Chiari syndrome is caused by obstruction of the hepatic veins that drain the liver. It presents as either acute or chronic disease. Acute disease results from sudden thrombosis while chronic disease involves fibrosis. Imaging findings include enlarged caudate lobe, ascites, inability to visualize hepatic veins, and collateral vessel formation. Treatment involves identifying the underlying cause of obstruction and considering interventions like stenting or transplant to relieve pressure in severe cases.
O documento discute a humanização da assistência obstétrica no Brasil. Em três pontos, aborda: 1) a conceituação de atenção humanizada no pré-natal, parto e pós-parto; 2) o papel dos profissionais de saúde em prover assistência de forma a minimizar a dor e respeitar a autonomia da mulher; 3) medidas educativas para preparar a mulher, como visitas às maternidades e informações sobre os procedimentos.
This document discusses complications that can arise from blood transfusions. It classifies complications into three categories: immune-mediated reactions, non-immune mediated reactions, and infectious complications. Immune-mediated reactions include hemolytic transfusion reactions, febrile non-hemolytic reactions, allergic reactions, anaphylaxis, graft-versus-host disease, TRALI, post-transfusion purpura, and alloimmunization. Non-immune reactions include fluid overload, hypothermia, electrolyte abnormalities, iron overload, and hypotensive reactions. Infectious complications can occur from viruses like HIV, hepatitis B and C, bacteria that can grow in cold storage, and other infectious agents like malaria. Prevent
This document summarizes an presentation about unknown unicast traffic and ping pollers. It defines unknown unicast traffic as traffic flooded on a LAN switch when the destination MAC address is not in the CAM table. It occurs in layer 2 broadcast domains. Ping pollers are lightweight machines that send periodic "keep-alive" traffic to refresh MAC addresses in switches and prevent unknown unicast flooding. A traditional ping poller uses ICMP ping sweeps while an enhanced version uses ARP requests with spoofed source MAC and IP addresses, allowing it to be more scalable with just one machine needed per metro area.
Aplastic Anemias & Bone Marrow Transplant I by Dr. Sookun Rajeev KumarDr. Sookun Rajeev Kumar
Aplastic anemia is a condition where the bone marrow fails to produce sufficient new blood cells, causing pancytopenia. It can be inherited or acquired due to drugs, viruses, radiation, chemicals or immune causes. Patients present with infections, bleeding and symptoms of anemia. Bone marrow biopsy shows hypocellular marrow. Treatment involves stem cell transplant, immunosuppressive therapy, blood transfusions, antibiotics and supportive care.
The document discusses myeloproliferative disorders (MPDs), which are clonal stem cell disorders characterized by increased blood cell counts and enlarged spleen and bone marrow. It focuses on chronic myeloid leukemia (CML), describing it as a MPD caused by a genetic mutation that results in uncontrolled white blood cell growth. CML progresses through chronic, accelerated, and blast phases, with symptoms ranging from fatigue to organ enlargement. Diagnosis involves blood and bone marrow tests detecting elevated white and platelet counts and the Philadelphia chromosome genetic abnormality associated with CML.
This document discusses various bleeding disorders including definitions, etiologies, and clinical features. It covers vessel wall abnormalities like hereditary hemorrhagic telangiectasia and Ehlers Danlos disease. Platelet disorders discussed include quantitative issues like thrombocytopenia and qualitative issues such as Bernard Soulier syndrome. Coagulation disorders covered include hemophilia A, hemophilia B, and acquired disorders like disseminated intravascular coagulation and liver disease. Specific conditions like idiopathic thrombocytopenic purpura, thrombotic thrombocytopenic purpura, and von Willebrand disease are explained in detail.
This document defines and describes pancytopenia and various bone marrow conditions that can cause pancytopenia, including constitutional (inherited) and acquired aplastic anemia. Constitutional pancytopenias are inherited disorders resulting in low blood cell counts. Fanconi anemia is described as the most common constitutional disorder, caused by mutations on FANC genes involved in DNA repair. Acquired aplastic anemia has various etiologies including radiation, drugs, chemicals, viruses, immune diseases, and idiopathic causes. Bone marrow biopsy and chromosomal breakage studies are used in diagnosis. Treatment depends on severity but may include blood transfusions, hematopoietic stem cell transplant, growth factors, steroids, androg
Mr. ram was admitted to the neutropenia ward with complaints of fatigue, petechiae, and fever. The document discusses various types of leukemias and lymphomas including their causes, characteristics, signs and symptoms, and management. Acute leukemias are characterized by an excessive number of blasts in the bone marrow. Nursing management of leukemia aims to minimize side effects and complications from the disease and its treatment through education, supportive care, and monitoring for signs of disease control or relapse.
This document discusses various types of cardiomyopathy including hypertrophic cardiomyopathy, dilated cardiomyopathy, and restrictive cardiomyopathy. It describes the genetic causes and mutations involved in each type. For many cardiomyopathies, genetic testing can help with clinical management, guide family screening, and identify individuals who may develop disease later in life. The document also discusses genetic causes of congenital heart disease, channelopathies, and the role of pharmacogenomics in personalized treatment of cardiac conditions.
This document discusses the diagnosis and management of parathyroid disease. It reviews calcium homeostasis and parathyroid hormone secretion and regulation. It covers the etiology and pathogenesis of hyperparathyroidism including parathyroid adenomas. The document discusses parathyroid anatomy and histopathology, including the normal parathyroid gland. It also reviews the clinical features of primary hyperparathyroidism and its symptoms affecting the kidneys, skeletal system, and other areas. The goal is to understand the diagnosis and treatment of hyperparathyroidism through surgical and medical management.
This document provides information on paroxysmal nocturnal hemoglobinuria (PNH). It describes PNH as an acquired hemolytic anemia caused by a somatic mutation in hematopoietic stem cells, rendering red blood cells susceptible to complement-mediated lysis. This results in intravascular hemolysis, thrombosis, and cytopenias. The document discusses the pathogenesis, clinical manifestations, diagnostic testing including flow cytometry, treatment including supportive care and the complement inhibitor eculizumab (Soliris), and risks and outcomes of PNH.
This document discusses the kidney involvement in sickle cell disease. It begins by providing background on the discovery of sickle cell disease and the genetic basis involving a mutation in the hemoglobin gene. It then covers the epidemiology and natural history of sickle cell disease, including clinical manifestations involving the kidneys. It discusses various renal pathologies seen in sickle cell disease like hematuria, proteinuria, renal papillary necrosis and chronic renal failure. Finally, it explores the pathophysiology of renal involvement, with sickling of red blood cells in the kidney vasculature and medulla playing a key role in reduced perfusion and infarction leading to chronic kidney damage.
PRCA post renal transplant-a case and reviewVishal Golay
Partha Choudhary, a 48-year-old male, developed progressive anemia after a liver transplant in 2011. His hemoglobin levels gradually decreased from 9.2 to 5.4 over a year despite EPO treatment. Testing found he was positive for Parvovirus B19 and negative for other potential causes. A bone marrow biopsy showed an absence of erythroblasts, consistent with a diagnosis of pure red cell aplasia caused by Parvovirus B19 infection. Treatment for this type of virus-induced PRCA typically involves intravenous immunoglobulin therapy.
Richard, a 51-year-old male, presented with epigastric distress, weight loss, anemia, and renal failure. Bone marrow testing revealed he had multiple myeloma, a cancer of plasma cells which produces monoclonal proteins that can cause organ and tissue damage. He was diagnosed based on his bone marrow containing over 20% plasma cells and laboratory findings showing monoclonal proteins. Multiple myeloma is typically treated with chemotherapy like melphalan and prednisone or stem cell transplants, though newer agents like thalidomide and bortezomib have improved outcomes in some patients.
This case presentation describes a 55-year-old male referred for management of severe anemia. He has a history of recurrent kidney stones, hypertension, diabetes, and back pain. Laboratory tests reveal severe anemia with rouleaux formation. Further workup shows evidence of a gammopathy. A bone marrow biopsy is needed to confirm a diagnosis of multiple myeloma, which can cause anemia and kidney damage through paraprotein production and bone lesions. Treatment involves supportive care, chemotherapy, and stem cell transplantation in eligible patients.
Cirrhosis and portal hypertension in childrenLm Huq
The document discusses the liver, cirrhosis, and portal hypertension. It begins by describing the anatomy and functional units of the liver, including the portal triads and zones. It then discusses cirrhosis and portal hypertension in more detail. Cirrhosis is defined as scarring of the liver from long-term damage that blocks blood flow and can lead to hepatic failure and portal hypertension. The document lists various etiologies of cirrhosis including infections, liver disorders, bile duct blockages, drugs/toxins, and discusses some specific conditions in more detail. It concludes by describing the clinical features and complications of cirrhosis and portal hypertension.
Hematopoietic stem cell transplantation involves intravenous infusion of stem cells collected from bone marrow, peripheral blood, or umbilical cord blood to reestablish hematopoietic function in patients with damaged bone marrow or immune systems. It is potentially curative for various disorders. Stem cells are collected via bone marrow harvest or apheresis and may be manipulated before infusion. Complications can include mucositis, sinusoidal obstructive syndrome, and graft-versus-host disease.
This document summarizes genetic screening techniques for identifying carriers of genetic disorders and diseases. It discusses carrier testing for autosomal recessive and X-linked disorders. It also describes several methods used in genetic screening, including restriction fragment length polymorphism (RFLP) analysis, short tandem repeats (STR), and single nucleotide polymorphisms (SNPs). The document provides examples of biochemical tests and newborn screening techniques used to detect carriers or individuals with diseases like phenylketonuria (PKU), glucose-6-phosphate dehydrogenase (G6PD) deficiency, thalassemia, and sickle cell disease.
This 65-year-old man presents with nephrotic syndrome characterized by edema, hypoalbuminemia, and significant proteinuria. Laboratory tests show renal dysfunction. Kidney ultrasound reveals increased echogenicity. The most likely cause is focal segmental glomerulosclerosis, a common cause of nephrotic syndrome in adults.
This document discusses azoospermia, which is defined as the absence of sperm in the ejaculate. It identifies the main categories for the etiology of azoospermia as pre-testicular, testicular, and post-testicular. For patients presenting with azoospermia, the evaluation aims to determine the cause and includes medical history, physical exam, hormone levels, imaging, and potentially genetic testing. The diagnosis and treatment approach differs depending on factors like ejaculate volume, hormone levels, and results of further testing.
This document summarizes key information about giant pheochromocytomas. It discusses the anatomy, presentation, diagnosis and management of these rare tumors. Giant pheochromocytomas are defined as greater than 7 cm in size. While most are benign, malignancy cannot be ruled out without evidence of metastasis. The document compares laparoscopic and open surgical approaches for removing giant pheochromocytomas, finding laparoscopic surgery to be feasible and superior with fewer complications. Long term postoperative surveillance with biochemical testing and imaging is important due to the risk of recurrence or metastasis.
The document provides information about acute renal failure (ARF), including:
- ARF is the rapid loss of kidney function over hours to days, resulting in failure to excrete waste and electrolyte imbalance.
- The main causes of ARF are pre-renal (decreased renal perfusion), intrinsic renal (damage to the kidneys), and post-renal (obstruction of urinary outflow).
- Evaluation involves laboratory tests like urinalysis and blood work to determine the specific cause and guide treatment, which ranges from intravenous fluids to dialysis depending on severity.
The document provides information about acute renal failure (ARF), including:
- ARF is the rapid loss of kidney function over hours to days, resulting in failure to excrete waste and electrolyte imbalance.
- The main causes of ARF are pre-renal (decreased renal perfusion), intrinsic renal (damage to the kidneys), and post-renal (obstruction of urinary outflow).
- Evaluation involves laboratory tests like urinalysis and renal indices to help determine the underlying cause and guide treatment, which depends on the identified etiology. Dialysis may be needed for severe cases.
Sideroblastic anemia is a disease where the bone marrow produces abnormal red blood cells called ringed sideroblasts that contain iron deposits around the nucleus, rather than healthy red blood cells. It can be caused by genetic disorders, myelodysplastic syndrome, or certain toxins and medications. Patients experience symptoms of pale skin, fatigue, and enlarged organs. The disease is diagnosed through identification of ringed sideroblasts in bone marrow samples and blood tests showing iron overload. Treatment depends on the severity of anemia and underlying cause, and may include blood transfusions, high dose vitamin supplements, chelation therapy to remove excess iron, and in severe cases, bone marrow transplant.
1. Sickle-cell anemia is a genetic blood disorder caused by a mutation in the hemoglobin gene, resulting in rigid, sickle-shaped red blood cells and chronic hemolysis. It is characterized by severe pain crises, anemia, and life expectancy is shortened.
2. Complications include organ damage from blocked blood flow, infections due to spleen dysfunction, stroke, and bone/joint problems. Painful vaso-occlusive crises are the most common acute symptom.
3. Management involves folic acid, antibiotics, pain medications, blood transfusions, and hydroxyurea. The heterozygous form known as sickle cell trait does not cause symptoms.
Paroxysmal nocturnal hemoglobinuria (PNH) is a rare, acquired blood disorder characterized by complement-induced breakdown of red blood cells in the bloodstream. This leads to anemia, red urine, and an increased risk of blood clots. PNH results from a genetic defect causing a lack of protective proteins on red blood cells and other cell surfaces, making them targets for destruction by the immune system's complement system. Treatment options include long-term anticoagulation therapy to prevent clots, transfusions to address anemia, and the monoclonal antibody eculizumab which inhibits complement system activity and reduces symptoms.
Paroxysmal nocturnal hemolobinurea (PNH) is a rare disease where red blood cells break down earlier than normal due to missing a gene called PIG-A that helps proteins stick to cells and protect them. Without this, red blood cells leak hemoglobin into the blood and urine, especially at night or in the morning. It has symptoms like abdominal pain, dark urine, and easy bruising. Tests like blood counts and urine analysis are used to diagnose. Treatment includes drugs to suppress the immune system and prevent cell breakdown, blood transfusions, iron/folic acid, and possibly bone marrow transplant. Complications can include blood clots, leukemia, or death.
Myelophthisic anemia is a severe form of anemia caused by the displacement of bone marrow tissue into the bloodstream by conditions like fibrosis, tumors, or granulomas that affect the bone marrow. It is commonly seen in people with chronic myeloproliferative disorders or cancers that have spread to the bone marrow. A diagnosis can be made through blood tests showing abnormal red blood cells and immature blood cells in the blood, and confirmed by bone marrow biopsy demonstrating replacement of normal bone marrow tissue. Treatment focuses on treating the underlying cause through therapies for cancers, fibrosis, or other conditions occupying the bone marrow space.
Hereditary spherocytosis is a genetically transmitted form of anemia where red blood cells are sphere-shaped rather than disk-shaped, making them prone to hemolysis. Symptoms include fatigue, pallor, jaundice, and in acute cases hypoxemia and hyperbilirubinemia. Diagnosis involves observing the lack of central pallor in red blood cells and increased fragility in hypotonic solutions. The condition is caused by defects in genes coding for membrane proteins, preventing red blood cells from maintaining their disk shape and surviving passage through the spleen. Treatment options include blood transfusions, folic acid supplementation, and splenectomy.
Hereditary elliptocytosis is an inherited blood disorder where red blood cells (RBCs) are elliptical rather than biconcave. It is caused by defects in the RBC membrane and has an autosomal pattern of inheritance. Most people with hereditary elliptocytosis are asymptomatic, but 5-10% experience a clinically significant hemolytic anemia. The disorder exists on a spectrum from mild to severe. Treatment involves folic acid supplementation for those with significant hemolysis; most require no treatment. The prognosis is generally good except for those with very severe disease.
Congenital dyserythropoietic anemia (CDA) is a rare blood disorder characterized by ineffective red blood cell production resulting in anemia. There are four main types of CDA which are inherited in an autosomal recessive pattern. Patients with CDA require frequent blood transfusions and iron chelation therapy to remove excess iron from the body. Bone marrow transplant and gene therapy may cure CDA but carry risks. Recent gene therapy trials have shown promise in curing beta-thalassemia.
Anemia is a decrease in red blood cells or hemoglobin in the blood. It can be caused by blood loss, excessive red blood cell destruction, or deficient red blood cell production. Common symptoms include fatigue, weakness, and shortness of breath. Anemia is diagnosed through a complete blood count and examination of a blood smear. It can be classified based on red blood cell size as microcytic, normocytic, or macrocytic. A more detailed classification involves evaluating red blood cell production, destruction, and loss through parameters like reticulocyte count and mean corpuscular volume. Determining the underlying cause requires additional tests depending on the classification and symptoms.
Anemia of chronic disease, also known as anemia of inflammatory response, is a common type of anemia seen in patients with chronic illnesses like infections, immune disorders, or cancers. Recent research has found that the liver protein hepcidin, which regulates iron metabolism, plays a central role in causing this anemia by blocking the release of iron stores during inflammation. Hepcidin increases during inflammation and prevents the release of iron, leading to insufficient iron availability for red blood cell production. While locking up iron is beneficial in the short term for fighting infection, prolonged inflammation and iron sequestration can severely limit the bone marrow's ability to produce red blood cells. The ideal treatment is resolving the underlying chronic disease, but otherwise patients
Thalassemia is a group of inherited blood disorders caused by mutations that reduce or eliminate globin chain production, leading to abnormal hemoglobin and anemia. There are two main types: alpha thalassemia affects alpha chain production while beta thalassemia affects beta chain production. Thalassemia is most common in populations from regions where malaria was endemic, as carriers have some protection against the disease. Treatment involves blood transfusions, iron chelation therapy, and potentially bone marrow transplantation.
Basavarajeeyam is a Sreshta Sangraha grantha (Compiled book ), written by Neelkanta kotturu Basavaraja Virachita. It contains 25 Prakaranas, First 24 Chapters related to Rogas& 25th to Rasadravyas.
NVBDCP.pptx Nation vector borne disease control programSapna Thakur
NVBDCP was launched in 2003-2004 . Vector-Borne Disease: Disease that results from an infection transmitted to humans and other animals by blood-feeding arthropods, such as mosquitoes, ticks, and fleas. Examples of vector-borne diseases include Dengue fever, West Nile Virus, Lyme disease, and malaria.
Title: Sense of Smell
Presenter: Dr. Faiza, Assistant Professor of Physiology
Qualifications:
MBBS (Best Graduate, AIMC Lahore)
FCPS Physiology
ICMT, CHPE, DHPE (STMU)
MPH (GC University, Faisalabad)
MBA (Virtual University of Pakistan)
Learning Objectives:
Describe the primary categories of smells and the concept of odor blindness.
Explain the structure and location of the olfactory membrane and mucosa, including the types and roles of cells involved in olfaction.
Describe the pathway and mechanisms of olfactory signal transmission from the olfactory receptors to the brain.
Illustrate the biochemical cascade triggered by odorant binding to olfactory receptors, including the role of G-proteins and second messengers in generating an action potential.
Identify different types of olfactory disorders such as anosmia, hyposmia, hyperosmia, and dysosmia, including their potential causes.
Key Topics:
Olfactory Genes:
3% of the human genome accounts for olfactory genes.
400 genes for odorant receptors.
Olfactory Membrane:
Located in the superior part of the nasal cavity.
Medially: Folds downward along the superior septum.
Laterally: Folds over the superior turbinate and upper surface of the middle turbinate.
Total surface area: 5-10 square centimeters.
Olfactory Mucosa:
Olfactory Cells: Bipolar nerve cells derived from the CNS (100 million), with 4-25 olfactory cilia per cell.
Sustentacular Cells: Produce mucus and maintain ionic and molecular environment.
Basal Cells: Replace worn-out olfactory cells with an average lifespan of 1-2 months.
Bowman’s Gland: Secretes mucus.
Stimulation of Olfactory Cells:
Odorant dissolves in mucus and attaches to receptors on olfactory cilia.
Involves a cascade effect through G-proteins and second messengers, leading to depolarization and action potential generation in the olfactory nerve.
Quality of a Good Odorant:
Small (3-20 Carbon atoms), volatile, water-soluble, and lipid-soluble.
Facilitated by odorant-binding proteins in mucus.
Membrane Potential and Action Potential:
Resting membrane potential: -55mV.
Action potential frequency in the olfactory nerve increases with odorant strength.
Adaptation Towards the Sense of Smell:
Rapid adaptation within the first second, with further slow adaptation.
Psychological adaptation greater than receptor adaptation, involving feedback inhibition from the central nervous system.
Primary Sensations of Smell:
Camphoraceous, Musky, Floral, Pepperminty, Ethereal, Pungent, Putrid.
Odor Detection Threshold:
Examples: Hydrogen sulfide (0.0005 ppm), Methyl-mercaptan (0.002 ppm).
Some toxic substances are odorless at lethal concentrations.
Characteristics of Smell:
Odor blindness for single substances due to lack of appropriate receptor protein.
Behavioral and emotional influences of smell.
Transmission of Olfactory Signals:
From olfactory cells to glomeruli in the olfactory bulb, involving lateral inhibition.
Primitive, less old, and new olfactory systems with different path
Muktapishti is a traditional Ayurvedic preparation made from Shoditha Mukta (Purified Pearl), is believed to help regulate thyroid function and reduce symptoms of hyperthyroidism due to its cooling and balancing properties. Clinical evidence on its efficacy remains limited, necessitating further research to validate its therapeutic benefits.
Rasamanikya is a excellent preparation in the field of Rasashastra, it is used in various Kushtha Roga, Shwasa, Vicharchika, Bhagandara, Vatarakta, and Phiranga Roga. In this article Preparation& Comparative analytical profile for both Formulationon i.e Rasamanikya prepared by Kushmanda swarasa & Churnodhaka Shodita Haratala. The study aims to provide insights into the comparative efficacy and analytical aspects of these formulations for enhanced therapeutic outcomes.
share - Lions, tigers, AI and health misinformation, oh my!.pptxTina Purnat
• Pitfalls and pivots needed to use AI effectively in public health
• Evidence-based strategies to address health misinformation effectively
• Building trust with communities online and offline
• Equipping health professionals to address questions, concerns and health misinformation
• Assessing risk and mitigating harm from adverse health narratives in communities, health workforce and health system
1. Paroxysmal NocturnalParoxysmal Nocturnal
Hemoglobinuria (PNH)Hemoglobinuria (PNH)
PNH is an acquired chronic hemolytic anemia whichPNH is an acquired chronic hemolytic anemia which
arises from a somatic mutation in a hematopoietic stemarises from a somatic mutation in a hematopoietic stem
cell. Most hematopoitic cell lines may be affected bycell. Most hematopoitic cell lines may be affected by
the intrinsic membrane defect. This defect renders thethe intrinsic membrane defect. This defect renders the
red cells highly susceptible to complement mediatedred cells highly susceptible to complement mediated
lysis resulting in the characteristic hemolysis.lysis resulting in the characteristic hemolysis.
2. Paroxysmal Nocturnal HemoglobinuriaParoxysmal Nocturnal Hemoglobinuria
(PNH)(PNH)
HistoryHistory
EpidemiologyEpidemiology
Clinical FeaturesClinical Features
– Relationship to Aplastic AnemiaRelationship to Aplastic Anemia
– other diseasesother diseases
PathogenesisPathogenesis
Laboratory DiagnosisLaboratory Diagnosis
TherapyTherapy
Topics to be consideredTopics to be considered
3. HistoryHistory
Investigator Year ContributionInvestigator Year Contribution
GullGull 1866 Described nocturnal and paroxysmal nature of1866 Described nocturnal and paroxysmal nature of
“intermittent haematinuria” in a young“intermittent haematinuria” in a young
tanner.tanner.
StrubingStrubing 18821882 Distinguished PNH from paroxysmal coldDistinguished PNH from paroxysmal cold
haemoglobinuria and march haemoglobinuria.haemoglobinuria and march haemoglobinuria.
Attributed the problem to the red cells.Attributed the problem to the red cells.
van den Burghvan den Burgh 19111911 Red cells lysed in acidified serum.Red cells lysed in acidified serum.
Suggested a roleSuggested a role for complement.for complement.
EnnekingEnneking 19281928 Coined the name “paroxysmalCoined the name “paroxysmal
nocturnalnocturnal haemoglobinuria”.haemoglobinuria”.
MarchiafavaMarchiafava 1928-1928- Described perpetual hemosiderinemia in absenceDescribed perpetual hemosiderinemia in absence
ofof
and Micheliand Micheli 19311931 hemolysis. Their names became eponymous forhemolysis. Their names became eponymous for
PNHPNH in Europe.in Europe.
HamHam 1937-1937- Identified the role of complement in lysis ofIdentified the role of complement in lysis of
PNH redPNH red 19391939 cells. Developed the acidified serum test,cells. Developed the acidified serum test,
also calledalso called the Ham test, which is still used tothe Ham test, which is still used to
diagnose PNH.diagnose PNH. Demonstrated that only a portion ofDemonstrated that only a portion of
PNH red cells arePNH red cells are abnormally sensitive to complement.abnormally sensitive to complement.
DavitzDavitz 19861986 Suggests defect in membrane protein anchoringSuggests defect in membrane protein anchoring
4. EpidemiologyEpidemiology
Rare disease -Rare disease -
– frequency unknownfrequency unknown
– thought to be on the same order as aplasticthought to be on the same order as aplastic
anemia (2-6 per million)anemia (2-6 per million)
Median age at diagnosisMedian age at diagnosis
– ~ 35 yrs~ 35 yrs
– PNH reported at extremes of agePNH reported at extremes of age
Female:Male ratio = 1.2:1.0Female:Male ratio = 1.2:1.0
No increased risk of PNH in patient relativesNo increased risk of PNH in patient relatives
Median Survival after diagnosis ~ 10-15 yrsMedian Survival after diagnosis ~ 10-15 yrs
5. Clinical FeaturesClinical Features
Major symptoms (Hemolysis, Cytopenia,Major symptoms (Hemolysis, Cytopenia,
and tendency to thrombosis)and tendency to thrombosis)
– chronic hemolysis with acute exacerbationschronic hemolysis with acute exacerbations
(hallmark)(hallmark)
most patient at some stagemost patient at some stage
only 1/3 exhibit hemolysis at diagnosisonly 1/3 exhibit hemolysis at diagnosis
Recurrent attacks of intravascular hemolysis areRecurrent attacks of intravascular hemolysis are
usually associated with;usually associated with;
– hemoglobinuriahemoglobinuria
– abdominal painabdominal pain
– dysphagiadysphagia
6. – cytopenia (varying severity)cytopenia (varying severity)
isolated subclinical thrombocytopeniaisolated subclinical thrombocytopenia
classical severe aplastic anemiaclassical severe aplastic anemia
– tendency to thrombosistendency to thrombosis
venous thrombosis (40%) of patients, main cause ofvenous thrombosis (40%) of patients, main cause of
morbiditymorbidity
Variable expression of above often causesVariable expression of above often causes
considerable delay in the diagnosisconsiderable delay in the diagnosis
Major cause of deathMajor cause of death
– venous thrombosisvenous thrombosis
– complications from progressive pancytopeniacomplications from progressive pancytopenia
Clinical FeaturesClinical Features
7. 25% of PNH patients survive >25 years - one25% of PNH patients survive >25 years - one
half of these go on to spontaneous remissionhalf of these go on to spontaneous remission
Remission patientsRemission patients
– hematological values revert to normalhematological values revert to normal
– no PHN rbcs or granulocytes detectedno PHN rbcs or granulocytes detected
– PNH lymphocytes - still detected but no clinicalPNH lymphocytes - still detected but no clinical
consequenceconsequence
Higher incidence of acute leukemia (6%)Higher incidence of acute leukemia (6%)
– ““preleukemic condition” most likely bone marrowpreleukemic condition” most likely bone marrow
failure not PNHfailure not PNH
Clinical Features - Long termClinical Features - Long term
8. AA described as pancytopenia withAA described as pancytopenia with
nonfunctioning bone marrow. Cytopenia innonfunctioning bone marrow. Cytopenia in
one or all cell lineages also common to PNHone or all cell lineages also common to PNH
High percentage of patients with AA developHigh percentage of patients with AA develop
clinical PNH or have lab evidence of PNHclinical PNH or have lab evidence of PNH
abnormality at some point (52%)abnormality at some point (52%)
Supports the theory that bone marrow failureSupports the theory that bone marrow failure
supports the abnormal PNH cells - more latersupports the abnormal PNH cells - more later
Clinical Features - Relationship toClinical Features - Relationship to
aplastic anemia (AA)aplastic anemia (AA)
9. Pathogenesis - The DefectPathogenesis - The Defect
Defect - Somatic mutation ofDefect - Somatic mutation of PIG-APIG-A genegene
(phosphatidylinositol glycan(phosphatidylinositol glycan
complementation group A) located on the Xcomplementation group A) located on the X
chromosome in a clone of a hematopoieticchromosome in a clone of a hematopoietic
stem cellstem cell
– >100 mutations in>100 mutations in PIG - APIG - A gene known in PNHgene known in PNH
– The mutations (mostly deletions or insertions)The mutations (mostly deletions or insertions)
generally result in stop codons - yieldinggenerally result in stop codons - yielding
truncated proteins which may be non or partiallytruncated proteins which may be non or partially
functional - explains heterogeneity seen in PNHfunctional - explains heterogeneity seen in PNH
10. PIG - APIG - A gene codes for 60 kDa proteingene codes for 60 kDa protein
glycosyltransferase which effects the firstglycosyltransferase which effects the first
step in the synthesis of the glycolipid GPIstep in the synthesis of the glycolipid GPI
anchor (glycosylphosphatidylinositol).anchor (glycosylphosphatidylinositol).
Results in clones lacking GPI anchor - inResults in clones lacking GPI anchor - in
turn, attached proteinsturn, attached proteins
Pathogenesis - The DefectPathogenesis - The Defect
GPI AnchorGPI Anchor
PIG - APIG - A proteinprotein
11. PNH blood cells deficient in GPI anchor lackPNH blood cells deficient in GPI anchor lack
membrane proteins linked via the anchormembrane proteins linked via the anchor
– Membrane proteins w/o anchor degraded in ERMembrane proteins w/o anchor degraded in ER
Severity & size of deficiency - variable -Severity & size of deficiency - variable -
clinical/diagnostic implicationsclinical/diagnostic implications
GPI anchor highly conserved in all eukaryotic cellsGPI anchor highly conserved in all eukaryotic cells
– Variant surface proteins of Trypanosomes - GPI linkedVariant surface proteins of Trypanosomes - GPI linked
– Shed by cleavage of GPI anchor - immune system avoidShed by cleavage of GPI anchor - immune system avoid
– Swapping GPI linked proteins - CD55 complementSwapping GPI linked proteins - CD55 complement
resistance -resistance - Schistosoma mansoniSchistosoma mansoni
– In HumansIn Humans
signal transduction, co-receptorssignal transduction, co-receptors
advantage to this type of anchor?advantage to this type of anchor?
Pathogenesis - The DefectPathogenesis - The Defect
GPI Anchor deficiencyGPI Anchor deficiency
12. Proteins anchored by GPI AnchorProteins anchored by GPI Anchor
andand
Surface Proteins Missing on PNH Blood CellsSurface Proteins Missing on PNH Blood Cells
Antigen Expression PatternAntigen Expression Pattern
EnzymesEnzymes
Acetylcholinesterase (AchE)Acetylcholinesterase (AchE) Red blood cellsRed blood cells
Ecto-5'-nucleotidase (CD73)Ecto-5'-nucleotidase (CD73) Some B- and T-lymphocytesSome B- and T-lymphocytes
Neutrophil alkaline phosphatase(NAP)Neutrophil alkaline phosphatase(NAP) NeutrophilsNeutrophils
ADP-rybosyl transferaseADP-rybosyl transferase Some T-lymphs, NeutrophilsSome T-lymphs, Neutrophils
Adhesion moleculesAdhesion molecules
Blast-I/CD48Blast-I/CD48 LymphocytesLymphocytes
Lymphocyte function-Lymphocyte function-
associated antigen-3(LFA-3 or CD58)associated antigen-3(LFA-3 or CD58) All blood cellsAll blood cells
CD66bCD66b NeutrophilsNeutrophils
Complement regulating surface proteinsComplement regulating surface proteins
Decay accelerating factor (DAF or CD55)Decay accelerating factor (DAF or CD55) All blood cellsAll blood cells
Homologous restriction factor,Homologous restriction factor,
Membrance inhibitor of reactive lysisMembrance inhibitor of reactive lysis All blood cellsAll blood cells
(MIRL or CD59)(MIRL or CD59)
13. Surface Proteins Missing on PNH Blood CellsSurface Proteins Missing on PNH Blood Cells
Antigen Expression PatternAntigen Expression Pattern
ReceptorsReceptors
Fc-Fc-γγ receptor III (Fcreceptor III (Fc γγ Rlll or CD16)Rlll or CD16) Neutrophils, NK-cells,Neutrophils, NK-cells,
macrophages,macrophages,
some T-lymphocytessome T-lymphocytes
Monocyte differentiation antigenMonocyte differentiation antigen Monocytes, macrophagesMonocytes, macrophages
(CD14)(CD14)
Urokinase-type PlasminogenUrokinase-type Plasminogen Monocytes, granulocytesMonocytes, granulocytes
Activator Receptor (u-PAR, CD87)Activator Receptor (u-PAR, CD87)
Blood group antigensBlood group antigens
Comer antigens (DAF)Comer antigens (DAF) Red blood cellsRed blood cells
Yt antigens (AchE)Yt antigens (AchE) Red blood cellsRed blood cells
Holley Gregory antigenHolley Gregory antigen Red blood cellsRed blood cells
John Milton Hagen antigen (JMH)John Milton Hagen antigen (JMH) Red blood cells, lymphocytesRed blood cells, lymphocytes
Dombrock resideDombrock reside Red blood cellsRed blood cells
Neutrophil antigensNeutrophil antigens
NB1/NB2NB1/NB2 NeutrophilsNeutrophils
15. Pathogenesis - Functional consequences ofPathogenesis - Functional consequences of
lack of GPI linked proteinslack of GPI linked proteins
In vivoIn vivo function of many of these membrane proteinsfunction of many of these membrane proteins
not fully understoodnot fully understood
However, CD55 and CD59 functions are well knownHowever, CD55 and CD59 functions are well known
– CD55 (decay accelerating factor) inhibits the formation orCD55 (decay accelerating factor) inhibits the formation or
destabilizes complement C3 convertase (C4bC2a)destabilizes complement C3 convertase (C4bC2a)
– CD59 (membrane inhibitor of reactive lysis, protectin,CD59 (membrane inhibitor of reactive lysis, protectin,
homologous restriction factor) Protects the membrane fromhomologous restriction factor) Protects the membrane from
attack by the C5-C9 complexattack by the C5-C9 complex
– Inherited absences of both proteins in humans have beenInherited absences of both proteins in humans have been
describeddescribed
Most inherited deficiencies of CD55 - no distinct clinicalMost inherited deficiencies of CD55 - no distinct clinical
hemolytic syndromehemolytic syndrome
Inherited absence of CD59 - produces a clinical disease similarInherited absence of CD59 - produces a clinical disease similar
to PNH with hemolysis and recurrent thrombotic eventsto PNH with hemolysis and recurrent thrombotic events
16. Mechanism for hemolysis in PNH via lack of CD59Mechanism for hemolysis in PNH via lack of CD59
(CD59)
(CD59)
17. Pathogenesis - Clonal evolution and cellularPathogenesis - Clonal evolution and cellular
selectionselection
Expansion of abnormal hematopoietic stem cell requiredExpansion of abnormal hematopoietic stem cell required
for PNH disease expressionfor PNH disease expression
– Theories for expansionTheories for expansion
Blood cells lacking GPI-linked proteins have intrinsic ability to growBlood cells lacking GPI-linked proteins have intrinsic ability to grow
abnormally fastabnormally fast
– In vitroIn vitro growth studies demonstrate that there are no differences in growthgrowth studies demonstrate that there are no differences in growth
between normal progenitors and PNH phenotype progenitorsbetween normal progenitors and PNH phenotype progenitors
– In vivoIn vivo - mice deficient for- mice deficient for PIG -APIG -A gene also demonstrates no growthgene also demonstrates no growth
advantage to repopulation of BM.advantage to repopulation of BM.
Additional environmental factors exert selective pressure in favor ofAdditional environmental factors exert selective pressure in favor of
expansion of GPI anchor deficient blood cellsexpansion of GPI anchor deficient blood cells
– PNH hematopoitic cells perferentially engraft SCID mice compared toPNH hematopoitic cells perferentially engraft SCID mice compared to
phenotypically hematopoitic cellsphenotypically hematopoitic cells
– Close association with AA - PNH hematopoitic cells cells may be moreClose association with AA - PNH hematopoitic cells cells may be more
resistant to the IS than normal hematopoitic cells.resistant to the IS than normal hematopoitic cells.
Evidence in AA is that the decrease in hematopoitic cells is due toEvidence in AA is that the decrease in hematopoitic cells is due to
increased apoptosis via cytotoxic T cells by direct cell contact orincreased apoptosis via cytotoxic T cells by direct cell contact or
cytokines (escape via deficiency in GPI linked protein???)cytokines (escape via deficiency in GPI linked protein???)
18. Laboratory Evaluation of PNHLaboratory Evaluation of PNH
Acidified Serum Test (Ham Test 1939)Acidified Serum Test (Ham Test 1939)
– Acidified serum activates alternative complementAcidified serum activates alternative complement
pathway resulting in lysis of patient’s rbcspathway resulting in lysis of patient’s rbcs
– May be positive in congenitial dyserythropoieticMay be positive in congenitial dyserythropoietic
anemiaanemia
– Still in use todayStill in use today
Sucrose Hemolysis Test (1970)Sucrose Hemolysis Test (1970)
– 10% sucrose provides low ionic strength which10% sucrose provides low ionic strength which
promotes complement binding resulting in lysis ofpromotes complement binding resulting in lysis of
patient’s rbcspatient’s rbcs
– May be positive in megaloblastic anemia,May be positive in megaloblastic anemia,
autoimmune hemolytic anemia, othersautoimmune hemolytic anemia, others
– Less specific than Ham testLess specific than Ham test
19. PNH Diagnosis by Flow Cytometry (1986)PNH Diagnosis by Flow Cytometry (1986)
– Considered method of choice for diagnosisConsidered method of choice for diagnosis
of PNH (1996)of PNH (1996)
– Detects actual PNH clones lacking GPIDetects actual PNH clones lacking GPI
anchored proteinsanchored proteins
– More sensitive and specific than Ham andMore sensitive and specific than Ham and
sucrose hemolysis testsucrose hemolysis test
Laboratory Evaluation of PNHLaboratory Evaluation of PNH
20. PNH Diagnosis by Flow CytometryPNH Diagnosis by Flow Cytometry
AntigenAntigen Cell LineageCell Lineage FunctionFunction
CD14CD14 monocytesmonocytes LPS receptor, MDFLPS receptor, MDF
CD16CD16 neutrophilsneutrophils FcFcγγIII receptorIII receptor
CD24CD24 neutrophilsneutrophils B-cell differentiation markerB-cell differentiation marker
CD55CD55 all lineagesall lineages DAFDAF
CD58CD58 all lineagesall lineages possible adhesionpossible adhesion
CD59CD59 all lineagesall lineages MIRL, HRF, protectinMIRL, HRF, protectin
CD66bCD66b neutrophilsneutrophils CEA-relatedCEA-related
Of the long list of GPI anchored protein, monoclonal antibodies toOf the long list of GPI anchored protein, monoclonal antibodies to
the following antigens have been used in the diagnosis of PNHthe following antigens have been used in the diagnosis of PNH
The most useful Abs are to CD14, 16, 55, 59, and 66. Are allThe most useful Abs are to CD14, 16, 55, 59, and 66. Are all
required? Probably not - more studies neededrequired? Probably not - more studies needed
21. Antigen expression is generally categorized intoAntigen expression is generally categorized into
three antigen density groupsthree antigen density groups
– type I Normal Ag expressiontype I Normal Ag expression
– type II Intermediate Ag expressiontype II Intermediate Ag expression
– type III No Ag expressiontype III No Ag expression
Patient samples that demonstrate cellPatient samples that demonstrate cell
populations with diminished or absent GPI-linkedpopulations with diminished or absent GPI-linked
proteins (Type II or III cells) with multipleproteins (Type II or III cells) with multiple
antibodies are considered to be consistent withantibodies are considered to be consistent with
PNH.PNH.
Should examine multiple lineages (ieShould examine multiple lineages (ie
granulocytes & monocytes)granulocytes & monocytes)
PNH Diagnosis by Flow CytometryPNH Diagnosis by Flow Cytometry
22. PNH Diagnosis by Flow CytometryPNH Diagnosis by Flow Cytometry
Examples of variable GPI linked CD59 expression onExamples of variable GPI linked CD59 expression on
granulocytes on four PNH patientsgranulocytes on four PNH patients
23. PNH Diagnosis by Flow CytometryPNH Diagnosis by Flow Cytometry
Example of variableExample of variable
expression of severalexpression of several
GPI linked Ags onGPI linked Ags on
several lineagesseveral lineages
From Purdue Cytometry CD-ROM vol3 97
24. Flow Cytometry is method of choice but onlyFlow Cytometry is method of choice but only
supportive for/against diagnosissupportive for/against diagnosis
More studies are needed to better define whetherMore studies are needed to better define whether
the type (I, II, or III), cell lineage, and size of thethe type (I, II, or III), cell lineage, and size of the
circulating clone can provide additional prognosticcirculating clone can provide additional prognostic
information.information.
Theoretically - should be very valuableTheoretically - should be very valuable
PNH Diagnosis by Flow CytometryPNH Diagnosis by Flow Cytometry
25. TherapyTherapy
Bone Marrow TransplantationBone Marrow Transplantation
– Only curative treatmentOnly curative treatment
– chronic condition (possiblity of spontaneous remission) -chronic condition (possiblity of spontaneous remission) -
BMT should be avoidedBMT should be avoided
Immunosuppressive therapyImmunosuppressive therapy
– Antilymphocyte globulin &/or cyclosporine AAntilymphocyte globulin &/or cyclosporine A
Does not alter proportion of PNH hemopoiesisDoes not alter proportion of PNH hemopoiesis
– Steroids - experimental - controlled studies ??Steroids - experimental - controlled studies ??
Growth FactorsGrowth Factors
– Some improvementSome improvement
– no evidence that normal clones respond better thanno evidence that normal clones respond better than
PNH clonesPNH clones