Pancytopenia
Anemia, Aplastic
Lymphohistiocytosis, Hemophagocytic
Hypersplenism
Bone Marrow
Histiocytosis, Non-Langerhans-Cell
Bone Marrow Diseases
Anemia, Megaloblastic
Fatal Outcome
Anemia, Macrocytic
Lymphomatoid Granulomatosis
Myelodysplastic Syndromes
Tuberculosis, Miliary
Hemoglobinuria, Paroxysmal
Tachycardia, Sinus
Blood Cell Count
Dyskeratosis Congenita
Gaucher Disease
Ciprofloxacin-induced bone marrow depression. (1/253)
Ciprofloxacin, a broad-spectrum fluoroquinolone antibacterial agent, is generally considered to be a safe drug. However, occasionally it may have life-threatening complications. Two instances of bone marrow failure following use of ciprofloxacin are reported. In one case, the bone marrow reverted to normal following withdrawal of the drug. In the other case, the patient succumbed to irreversible bone marrow depression leading to severe thrombocytopenia and uncontrolled bleeding. This could have been an idiosyncratic reaction. (+info)Phenotypic correction of Fanconi anemia group C knockout mice. (2/253)
Fanconi anemia (FA) is a genetic disorder characterized by bone marrow failure, congenital anomalies, and a predisposition to malignancy. FA cells demonstrate hypersensitivity to DNA cross-linking agents, such as mitomycin C (MMC). Mice with a targeted disruption of the FANCC gene (fancc -/- nullizygous mice) exhibit many of the characteristic features of FA and provide a valuable tool for testing novel therapeutic strategies. We have exploited the inherent hypersensitivity of fancc -/- hematopoietic cells to assay for phenotypic correction following transfer of the FANCC complementary DNA (cDNA) into bone marrow cells. Murine fancc -/- bone marrow cells were transduced with the use of retrovirus carrying the human fancc cDNA and injected into lethally irradiated recipients. Mitomycin C (MMC) dosing, known to induce pancytopenia, was used to challenge the transplanted animals. Phenotypic correction was determined by assessment of peripheral blood counts. Mice that received cells transduced with virus carrying the wild-type gene maintained normal blood counts following MMC administration. All nullizygous control animals receiving MMC exhibited pancytopenia shortly before death. Clonogenic assay and polymerase chain reaction analysis confirmed gene transfer of progenitor cells. These results indicate that selective pressure promotes in vivo enrichment of fancc-transduced hematopoietic stem/progenitor cells. In addition, MMC resistance coupled with detection of the transgene in secondary recipients suggests transduction and phenotypic correction of long-term repopulating stem cells. (Blood. 2000;95:700-704) (+info)A phase II study of cisplatin and 5-fluorouracil with concurrent hyperfractionated thoracic radiation for locally advanced non-small-cell lung cancer: a preliminary report from the Okayama Lung Cancer Study Group. (3/253)
A recent meta-analysis and randomized studies have demonstrated that combined chemoradiotherapy is associated with a survival advantage for selected patients with locally advanced unresectable non-small-cell lung cancer (NSCLC). We conducted a phase II study of combined chemoradiotherapy to find a more effective combination of drugs and radiation than those previously reported for such patients. Between January 1994 and November 1996, 50 previously untreated patients with locally advanced unresectable NSCLC (stage IIIA with N2 or IIIB disease) were entered in this study. Patients were required to have Eastern Cooperative Oncology Group performance status < or = 2, age < or = 75 years and adequate organ function. Treatment consisted of three cycles of cisplatin (20 mg m(-2), days 1-5) and 5-fluorouracil (5-FU) (500 mg m(-2), days 1-5) every 4 weeks, and concurrent hyperfractionated thoracic radiation (1.25 Gy twice daily, with a 6-h interfraction interval; total radiation dose, 62.5-70 Gy). Of the 50 patients entered, 37 (74%) responded to this chemoradiotherapy, including two (4%) with complete response. By a median follow-up time of 41.0 months, 35 patients had died and 15 were still alive. The median time to progression for responding patients was 14.1 months (range, 2.6-51.3+ months). The median survival time was 18.7 months, with a survival rate of 66.0% at 1 year, 46.0% at 2 years and 27.6% at 3 years. Survival outcome was strongly affected by the extent of nodal involvement (median survival time, 27.4 months for N0-2 disease (n = 37) vs 10.7 months for N3 disease (n = 13); P = 0.007). The major toxicities of treatment were leukopenia and neutropenia (> or = Grade 3, 58% and 60% respectively). Other toxicities of > or = Grade 3 included thrombocytopenia (26%), anaemia (26%), nausea/vomiting (16%) and radiation oesophagitis (6%). Treatment-related death occurred for one patient. Our findings suggest that cisplatin and 5-FU in combination with concurrent hyperfractionated thoracic radiation is effective and feasible for the treatment of locally advanced unresectable NSCLC. The short-term survival in this study appeared to be more encouraging than those of similar chemoradiation trials. A randomized trial will be needed to compare the combination of cisplatin and 5-FU with other platinum-based regimens together with concurrent hyperfractionated thoracic radiation. In addition, in future studies, inclusion criteria for N3 disease with or without supraclavicular involvement should be reconsidered to correctly evaluate the effect of combined chemoradiotherapy for locally advanced unresectable NSCLC. (+info)Bone marrow necrosis in a cat infected with feline leukemia virus. (4/253)
A one-year old castrated male cat was admitted to the hospital with vomiting and diarrhea. Laboratory examination revealed pancytopenia and positive for FeLV antigen. A bone marrow examination indicated necrosis of the nucleated cells. Based on these findings, the cat was diagnosed as bone marrow necrosis. Pancytopenia was effectively treated with corticosteroids. Re-examination of the bone marrow confirmed a recovery of normal hematopoietic cells with a infiltration of many macrophages. It is strongly suspected that the bone marrow necrosis in this case could be associated with a bone marrow suppression due to FeLV infection. (+info)Acute renal failure and gout as presenting features of acute lymphoblastic leukaemia. (5/253)
A leukaemic child is described who presented with renal failure and gout attributable to hyperuricaemia before the leukaemia could be diagnosed. (+info)Successful ribavirin therapy for severe adenovirus hemorrhagic cystitis after allogeneic marrow transplant from close HLA donors rather than distant donors. (6/253)
Intravenous ribavirin was given to nine patients who had developed severe adenovirus-induced hemorrhagic cystitis (AD-HC) which was resistant to conventional therapy or where there was involvement of other organs after allogeneic BMT. Three patients recovered completely from AD-HC, two of whom had been resistant to vidarabine. All three had received sibling BMTs (2 HLA matched, 1 HLA mismatched). Five patients who received BMTs from related (2 HLA mismatched) or unrelated (1 HLA matched, 2 HLA mismatched) showed an improvement in symptoms but had recurrent AD-HC after discontinuation of ribavirin. Improvement in clinical symptoms and termination of virus excretion were well correlated. The last patient who received a mismatched unrelated BMT died during ribavirin therapy. Ribavirin was notably more effective among patients receiving BMTs from siblings in contrast to patients receiving BMTs from alternative donors (<0.05). One patient experienced severe pancytopenia during the second treatment with ribavirin after HC recurrence and recovered after ceasing ribavirin. Thus, ribavirin seems to be very effective for severe AD-HC for some recipients who receive transplants from a genetically close donor. Bone Marrow Transplantation (2000) 25, 545-548. (+info)Amifostine in the treatment of low-risk myelodysplastic syndromes. (7/253)
BACKGROUND AND OBJECTIVE: The phosphorylated aminothiol agent amifostine (Ethyol) protects bone marrow and other tissues from toxicity due to ionizing radiation and antineoplastic drugs, and stimulates progenitors from normal and myelodysplastic bone marrow. Contrasting results have been published so far on the effectiveness of amifostine in correcting cytopenia in patients with myelodysplastic syndromes (MDS). DESIGN AND METHODS: In a pilot phase II study we treated 26 patients with low risk MDS (13 RA, 2 RARS, 2 CMML, 9 RAEB with blasts < 10%) with amifostine (200 mg/m(2 )x 3/week for 4 weeks). RESULTS: Hemoglobin concentration, reticulocyte, neutrophil and platelet counts increased respectively in 6 (23%), 11 (42%), 13 (50%) and 9 (34%) of patients. Red cell transfusions were reduced (> 50%) in 4/26 patients and abolished in 1/26. Unexpectedly a significant decrease in soluble transferrin receptor level at week 4 of therapy, compared to the basal level (p<0.04), was observed in the whole population of patients. INTERPRETATION AND CONCLUSIONS: Amifostine can ameliorate cytopenia in some patients with MDS, with few and mild side effects. Neutropenia is more likely to be corrected than anemia or thrombocytopenia. Mechanisms underlying this biological effect remain to be clarified. (+info)Transfusion-associated graft-vs-host disease. A fatal case caused by blood from an unrelated HLA homozygous donor. (8/253)
Transfusion-associated graft-vs-host disease (TA-GVHD) is a rare complication of transfusion. We report fatal TA-GVHD in a 63-year-old coronary artery bypass patient of European descent after an RBC transfusion from an unrelated donor. The patient had mild lymphocytopenia and received 2 80-mg doses of methylprednisolone and 7 units of RBCs. On day 14 after the transfusion, he had fever, elevated liver enzyme levels, and a macular rash. Pancytopenia and bone marrow aplasia developed. On day 26, he had a massive gastrointestinal hemorrhage and died. At autopsy, histopathologic findings of the skin, liver, bone marrow, and gastrointestinal tract were consistent with TA-GVHD. One donor of the transfused RBCs (3 days old at transfusion) had a 1-way HLA match with the patient. A method using multiplex polymerase chain reaction is presented. This patient with TA-GVHD and mild immune suppression suggests that blood component irradiation guidelines may need to be reevaluated. (+info)Pancytopenia is a medical condition characterized by a reduction in the number of all three types of blood cells in the peripheral blood: red blood cells (anemia), white blood cells (leukopenia), and platelets (thrombocytopenia). This condition can be caused by various underlying diseases, including bone marrow disorders, viral infections, exposure to toxic substances or radiation, vitamin deficiencies, and certain medications. Symptoms of pancytopenia may include fatigue, weakness, increased susceptibility to infections, and easy bruising or bleeding.
Aplastic anemia is a medical condition characterized by pancytopenia (a decrease in all three types of blood cells: red blood cells, white blood cells, and platelets) due to the failure of bone marrow to produce new cells. It is called "aplastic" because the bone marrow becomes hypocellular or "aplastic," meaning it contains few or no blood-forming stem cells.
The condition can be acquired or inherited, with acquired aplastic anemia being more common. Acquired aplastic anemia can result from exposure to toxic chemicals, radiation, drugs, viral infections, or autoimmune disorders. Inherited forms of the disease include Fanconi anemia and dyskeratosis congenita.
Symptoms of aplastic anemia may include fatigue, weakness, shortness of breath, pale skin, easy bruising or bleeding, frequent infections, and fever. Treatment options for aplastic anemia depend on the severity of the condition and its underlying cause. They may include blood transfusions, immunosuppressive therapy, and stem cell transplantation.
Hemophagocytic Lymphohistiocytosis (HLH) is a rare and serious condition characterized by an uncontrolled immune response leading to inflammation and damage in various organs of the body. It occurs when certain immune cells, including lymphocytes and histiocytes (a type of white blood cell), become overactive and start to destroy other blood cells, particularly red blood cells and platelets. This results in symptoms such as fever, enlarged liver and spleen, cytopenia (decreased number of blood cells), and increased levels of inflammatory markers in the body.
HLH can be primary or secondary. Primary HLH is an inherited disorder caused by genetic mutations that affect the immune system's regulation. Secondary HLH, on the other hand, is acquired due to factors such as infections, malignancies, or autoimmune diseases. Treatment for HLH typically involves a combination of chemotherapy, immunosuppressive drugs, and sometimes bone marrow transplantation. Early diagnosis and treatment are crucial for improving outcomes in patients with this condition.
Hypersplenism is a condition characterized by an enlarged spleen (splenomegaly) that results in the abnormal removal or destruction of various blood components, such as red blood cells (RBCs), white blood cells (WBCs), and platelets. This leads to peripheral blood cytopenias, which means there is a decrease in one or more types of blood cells in the circulation.
The spleen becomes overactive in hypersplenism, and its increased removal of blood cells can be secondary to various underlying disorders, such as:
1. Infections: e.g., bacterial endocarditis, malaria, or EBV (Epstein-Barr virus) infection
2. Hematologic diseases: e.g., hemolytic anemias, thalassemia, leukemias, lymphomas, or myeloproliferative neoplasms
3. Cirrhosis and portal hypertension
4. Vascular disorders: e.g., splenic vein thrombosis or congestive splenomegaly
5. Storage diseases: e.g., Gaucher's disease, Niemann-Pick disease, or Hurler syndrome
Symptoms of hypersplenism may include fatigue, weakness, pallor (in case of anemia), infections (due to neutropenia), and easy bruising or bleeding (due to thrombocytopenia). Treatment for hypersplenism involves addressing the underlying cause. In some cases, splenectomy (surgical removal of the spleen) may be considered if the benefits outweigh the risks.
Bone marrow is the spongy tissue found inside certain bones in the body, such as the hips, thighs, and vertebrae. It is responsible for producing blood-forming cells, including red blood cells, white blood cells, and platelets. There are two types of bone marrow: red marrow, which is involved in blood cell production, and yellow marrow, which contains fatty tissue.
Red bone marrow contains hematopoietic stem cells, which can differentiate into various types of blood cells. These stem cells continuously divide and mature to produce new blood cells that are released into the circulation. Red blood cells carry oxygen throughout the body, white blood cells help fight infections, and platelets play a crucial role in blood clotting.
Bone marrow also serves as a site for immune cell development and maturation. It contains various types of immune cells, such as lymphocytes, macrophages, and dendritic cells, which help protect the body against infections and diseases.
Abnormalities in bone marrow function can lead to several medical conditions, including anemia, leukopenia, thrombocytopenia, and various types of cancer, such as leukemia and multiple myeloma. Bone marrow aspiration and biopsy are common diagnostic procedures used to evaluate bone marrow health and function.
Non-Langerhans cell histiocytosis (NLCH) is a group of rare disorders characterized by the abnormal proliferation and accumulation of histiocytes, which are immune cells that normally function to help fight infection. Unlike Langerhans cell histiocytosis (LCH), where the histiocytes involved are positive for the marker CD1a and the protein S-100, in NLCH, the histiocytes involved do not express these markers.
NLCH includes several distinct clinicopathological entities, such as juvenile xanthogranuloma, Erdheim-Chester disease, and Rosai-Dorfman disease. These conditions can affect various organs of the body, including the skin, bones, lungs, central nervous system, and others. The clinical manifestations, prognosis, and treatment options vary depending on the specific type of NLCH and the extent of organ involvement.
It is important to note that while some cases of NLCH may be self-limited or respond well to treatment, others can be aggressive and potentially life-threatening. Therefore, prompt and accurate diagnosis and management are crucial for optimizing patient outcomes.
Bone marrow diseases, also known as hematologic disorders, are conditions that affect the production and function of blood cells in the bone marrow. The bone marrow is the spongy tissue inside bones where all blood cells are produced. There are various types of bone marrow diseases, including:
1. Leukemia: A cancer of the blood-forming tissues, including the bone marrow. Leukemia causes the body to produce large numbers of abnormal white blood cells, which can crowd out healthy blood cells and impair their function.
2. Lymphoma: A cancer that starts in the lymphatic system, which is part of the immune system. Lymphoma can affect the bone marrow and cause an overproduction of abnormal white blood cells.
3. Multiple myeloma: A cancer of the plasma cells, a type of white blood cell found in the bone marrow. Multiple myeloma causes an overproduction of abnormal plasma cells, which can lead to bone pain, fractures, and other complications.
4. Aplastic anemia: A condition in which the bone marrow does not produce enough new blood cells. This can lead to symptoms such as fatigue, weakness, and an increased risk of infection.
5. Myelodysplastic syndromes (MDS): A group of disorders in which the bone marrow does not produce enough healthy blood cells. MDS can lead to anemia, infections, and bleeding.
6. Myeloproliferative neoplasms (MPNs): A group of disorders in which the bone marrow produces too many abnormal white or red blood cells, or platelets. MPNs can lead to symptoms such as fatigue, itching, and an increased risk of blood clots.
Treatment for bone marrow diseases depends on the specific condition and its severity. Treatment options may include chemotherapy, radiation therapy, stem cell transplantation, or targeted therapies that target specific genetic mutations.
Megaloblastic anemia is a type of macrocytic anemia, which is characterized by the presence of large, structurally abnormal, and immature red blood cells called megaloblasts in the bone marrow. This condition arises due to impaired DNA synthesis during erythropoiesis (the process of red blood cell production), often as a result of deficiencies in vitamin B12 or folate, or from the use of certain medications that interfere with DNA synthesis.
The hallmark feature of megaloblastic anemia is the presence of megaloblasts in the bone marrow, which exhibit an asynchrony between nuclear and cytoplasmic maturation. This means that although the cytoplasm of these cells may appear well-developed, their nuclei remain underdeveloped and fragmented. As a result, the peripheral blood shows an increase in mean corpuscular volume (MCV), reflecting the larger size of the red blood cells.
Additional hematological findings include decreased reticulocyte counts, neutrophil hypersegmentation, and occasionally thrombocytopenia or leukopenia. Neurological symptoms may also be present due to the involvement of the nervous system in vitamin B12 deficiency.
Megaloblastic anemia is typically treated with supplementation of the deficient vitamin (B12 or folate), which helps restore normal erythropoiesis and alleviate symptoms over time.
A fatal outcome is a term used in medical context to describe a situation where a disease, injury, or illness results in the death of an individual. It is the most severe and unfortunate possible outcome of any medical condition, and is often used as a measure of the severity and prognosis of various diseases and injuries. In clinical trials and research, fatal outcome may be used as an endpoint to evaluate the effectiveness and safety of different treatments or interventions.
Macrocytic anemia is a type of anemia in which the red blood cells are larger than normal in size (macrocytic). This condition can be caused by various factors such as deficiency of vitamin B12 or folate, alcohol abuse, certain medications, bone marrow disorders, and some inherited genetic conditions.
The large red blood cells may not function properly, leading to symptoms such as fatigue, weakness, shortness of breath, pale skin, and a rapid heartbeat. Macrocytic anemia can be diagnosed through a complete blood count (CBC) test, which measures the size and number of red blood cells in the blood.
Treatment for macrocytic anemia depends on the underlying cause. In cases of vitamin B12 or folate deficiency, supplements or dietary changes may be recommended. If the anemia is caused by medication, a different medication may be prescribed. In severe cases, blood transfusions or injections of vitamin B12 may be necessary.
Lymphomatoid Granulomatosis is a rare, progressive and potentially fatal inflammatory disorder characterized by the proliferation of atypical B-lymphocytes infiltrating the lungs, skin, and less frequently other organs. It is considered an angiocentric and angiodestructive lymphoproliferative disease with varying degrees of malignancy. The condition is often associated with Epstein-Barr virus (EBV) infection and is more prevalent in middle-aged men.
The disorder presents with a wide range of symptoms, depending on the affected organs. Lung involvement can cause cough, shortness of breath, chest pain, or hemoptysis, while skin manifestations may include papules, nodules, or ulcers. Other possible sites of involvement are the central nervous system, kidneys, and liver.
Lymphomatoid Granulomatosis is classified into three grades based on the number of atypical lymphocytes and degree of necrosis: grade I (few atypical cells, minimal necrosis), grade II (more atypical cells, mild to moderate necrosis), and grade III (large numbers of atypical cells, extensive necrosis). Grades II and III are considered high-grade lymphomas.
The diagnosis is established through a combination of clinical presentation, radiological findings, and histopathological examination of biopsy specimens. Treatment options include corticosteroids, chemotherapy, immunomodulatory agents, and radiation therapy. The prognosis varies depending on the grade, extent of disease, and response to treatment.
Myelodysplastic syndromes (MDS) are a group of diverse bone marrow disorders characterized by dysplasia (abnormal development or maturation) of one or more types of blood cells or by ineffective hematopoiesis, resulting in cytopenias (lower than normal levels of one or more types of blood cells). MDS can be classified into various subtypes based on the number and type of cytopenias, the degree of dysplasia, the presence of ring sideroblasts, and cytogenetic abnormalities.
The condition primarily affects older adults, with a median age at diagnosis of around 70 years. MDS can evolve into acute myeloid leukemia (AML) in approximately 30-40% of cases. The pathophysiology of MDS involves genetic mutations and chromosomal abnormalities that lead to impaired differentiation and increased apoptosis of hematopoietic stem and progenitor cells, ultimately resulting in cytopenias and an increased risk of developing AML.
The diagnosis of MDS typically requires a bone marrow aspiration and biopsy, along with cytogenetic and molecular analyses to identify specific genetic mutations and chromosomal abnormalities. Treatment options for MDS depend on the subtype, severity of cytopenias, and individual patient factors. These may include supportive care measures, such as transfusions and growth factor therapy, or more aggressive treatments, such as chemotherapy and stem cell transplantation.
A bone marrow examination is a medical procedure in which a sample of bone marrow, the spongy tissue inside bones where blood cells are produced, is removed and examined. This test is used to diagnose or monitor various conditions affecting blood cell production, such as infections, leukemia, anemia, and other disorders of the bone marrow.
The sample is typically taken from the hipbone (iliac crest) or breastbone (sternum) using a special needle. The procedure may be done under local anesthesia or with sedation to minimize discomfort. Once the sample is obtained, it is examined under a microscope for the presence of abnormal cells, changes in cell size and shape, and other characteristics that can help diagnose specific conditions. Various stains, cultures, and other tests may also be performed on the sample to provide additional information.
Bone marrow examination is an important diagnostic tool in hematology and oncology, as it allows for a detailed assessment of blood cell production and can help guide treatment decisions for patients with various blood disorders.
Miliary tuberculosis is a disseminated form of tuberculosis (TB), a bacterial infection caused by Mycobacterium tuberculosis. The term "miliary" refers to the tiny millet-like size (2-5 microns in diameter) of the TB foci observed in the lungs or other organs during autopsy or on imaging studies. In military tuberculosis, these small granules are widespread throughout the body, affecting multiple organs such as the lungs, liver, spleen, bones, and brain. It can occur in people with weakened immune systems, including those with HIV/AIDS, or in individuals who have recently been infected with TB bacteria. Symptoms may include fever, night sweats, weight loss, fatigue, and cough. Early diagnosis and treatment are crucial to prevent severe complications and improve outcomes.
Paroxysmal nocturnal hemoglobinuria (PNH) is a rare, acquired disorder of the blood characterized by the destruction of red blood cells (hemolysis), which can cause symptoms such as fatigue, dark colored urine (especially in the morning), chest pain, shortness of breath, and an increased risk of blood clots. The hemoglobin from the lysed red blood cells appears in the urine, hence the term "hemoglobinuria."
The paroxysmal nature of the disorder refers to the sudden and recurring episodes of hemolysis that can occur at any time, although they may be more frequent at night. The condition is caused by mutations in a gene called PIG-A, which leads to the production of defective red blood cell membranes that are sensitive to destruction by complement, a component of the immune system.
PNH is a serious and potentially life-threatening condition that can lead to complications such as kidney damage, pulmonary hypertension, and thrombosis. Treatment typically involves supportive care, such as blood transfusions, and medications to manage symptoms and prevent complications. In some cases, stem cell transplantation may be considered as a curative treatment option.
Splenomegaly is a medical term that refers to an enlargement or expansion of the spleen beyond its normal size. The spleen is a vital organ located in the upper left quadrant of the abdomen, behind the stomach and below the diaphragm. It plays a crucial role in filtering the blood, fighting infections, and storing red and white blood cells and platelets.
Splenomegaly can occur due to various underlying medical conditions, including infections, liver diseases, blood disorders, cancer, and inflammatory diseases. The enlarged spleen may put pressure on surrounding organs, causing discomfort or pain in the abdomen, and it may also lead to a decrease in red and white blood cells and platelets, increasing the risk of anemia, infections, and bleeding.
The diagnosis of splenomegaly typically involves a physical examination, medical history, and imaging tests such as ultrasound, CT scan, or MRI. Treatment depends on the underlying cause and may include medications, surgery, or other interventions to manage the underlying condition.
Sinus tachycardia is a type of rapid heart rate, characterized by an abnormally fast sinus rhythm, with a rate greater than 100 beats per minute in adults. The sinoatrial node (SA node), which is the natural pacemaker of the heart, generates these impulses regularly and at an increased rate.
Sinus tachycardia is usually a physiological response to various stimuli or conditions, such as physical exertion, strong emotions, fever, anxiety, pain, or certain medications. It can also be caused by hormonal imbalances, anemia, hyperthyroidism, or other medical disorders.
In most cases, sinus tachycardia is not harmful and resolves once the underlying cause is addressed. However, if it occurs persistently or is associated with symptoms like palpitations, shortness of breath, dizziness, or chest discomfort, further evaluation by a healthcare professional is recommended to rule out any underlying heart conditions or other medical issues.
A "Blood Cell Count" is a medical laboratory test that measures the number of red blood cells (RBCs), white blood cells (WBCs), and platelets in a sample of blood. This test is often used as a part of a routine check-up or to help diagnose various medical conditions, such as anemia, infection, inflammation, and many others.
The RBC count measures the number of oxygen-carrying cells in the blood, while the WBC count measures the number of immune cells that help fight infections. The platelet count measures the number of cells involved in clotting. Abnormal results in any of these counts may indicate an underlying medical condition and further testing may be required for diagnosis and treatment.
Dyskeratosis congenita is a rare genetic disorder that affects the bone marrow's ability to produce blood cells and can also affect other parts of the body, such as the skin, nails, and mucous membranes. It is characterized by the triad of abnormal skin pigmentation, nail dystrophy, and leukoplakia (white patches) in the mouth. People with dyskeratosis congenita are also at an increased risk of developing bone marrow failure, cancer, and pulmonary fibrosis. The disorder is caused by mutations in genes involved in the maintenance of telomeres, which are the protective caps on the ends of chromosomes that shorten as cells divide. These mutations can lead to premature shortening of telomeres and cellular aging, resulting in the symptoms of dyskeratosis congenita.
Gaucher disease is an inherited metabolic disorder caused by the deficiency of the enzyme glucocerebrosidase. This enzyme is responsible for breaking down a complex fatty substance called glucocerebroside, found in the cells of various tissues throughout the body. When the enzyme is not present in sufficient quantities or is entirely absent, glucocerebroside accumulates inside the lysosomes (cellular organelles responsible for waste material breakdown) of certain cell types, particularly within white blood cells called macrophages. This buildup of lipids leads to the formation of characteristic lipid-laden cells known as Gaucher cells.
There are three main types of Gaucher disease, classified based on the absence or presence and severity of neurological symptoms:
1. Type 1 (non-neuronopathic) - This is the most common form of Gaucher disease, accounting for approximately 95% of cases. It primarily affects the spleen, liver, and bone marrow but does not typically involve the central nervous system. Symptoms may include an enlarged spleen and/or liver, low red blood cell counts (anemia), low platelet counts (thrombocytopenia), bone pain and fractures, and fatigue.
2. Type 2 (acute neuronopathic) - This rare and severe form of Gaucher disease affects both visceral organs and the central nervous system. Symptoms usually appear within the first six months of life and progress rapidly, often leading to death before two years of age due to neurological complications.
3. Type 3 (subacute neuronopathic) - This form of Gaucher disease affects both visceral organs and the central nervous system but has a slower progression compared to type 2. Symptoms may include those seen in type 1, as well as neurological issues such as seizures, eye movement abnormalities, and cognitive decline.
Gaucher disease is inherited in an autosomal recessive manner, meaning that an individual must inherit two defective copies of the gene (one from each parent) to develop the condition. Treatment options for Gaucher disease include enzyme replacement therapy (ERT), substrate reduction therapy (SRT), and chaperone therapy, depending on the type and severity of the disease.
An encyclopedia is a comprehensive reference work containing articles on various topics, usually arranged in alphabetical order. In the context of medicine, a medical encyclopedia is a collection of articles that provide information about a wide range of medical topics, including diseases and conditions, treatments, tests, procedures, and anatomy and physiology. Medical encyclopedias may be published in print or electronic formats and are often used as a starting point for researching medical topics. They can provide reliable and accurate information on medical subjects, making them useful resources for healthcare professionals, students, and patients alike. Some well-known examples of medical encyclopedias include the Merck Manual and the Stedman's Medical Dictionary.
Pancytopenia
Ataxia-pancytopenia syndrome
Malignant histiocytosis
Congenital amegakaryocytic thrombocytopenia
Alkylating antineoplastic agent
Follow the Legion
Immunosuppressive drug
Polish plait
Sandfly
Subcutaneous T-cell lymphoma
Valproate
Aggressive NK-cell leukemia
Chloroquine
Ju Kyu-chang
Hereditary folate malabsorption
Hairy cell leukemia
Langerhans cell histiocytosis
Elivaldogene autotemcel
Macrolide
Langerhans cell sarcoma
Deaths in September 2018
LIG4 syndrome
Copper deficiency
Ranitidine bismuth citrate
Transfusion-associated graft-versus-host disease
IRGs
Primary myelofibrosis
Malignant infantile osteopetrosis
Hemophagocytic lymphohistiocytosis
Imerslund-Gräsbeck syndrome
Pancytopenia - Wikipedia
Ataxia-pancytopenia syndrome: MedlinePlus Genetics
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Thrombocytopenia4
- When an individual has pancytopenia, there can be chances for three different blood diseases such as anemia, leukopenia, and thrombocytopenia. (icliniq.com)
- Pancytopenia does not actually refer to a disease, but rather to the simultaneous development of a number of blood-related deficiencies: non-regenerative anemia, leucopenia, and thrombocytopenia. (petmd.com)
- Especially single lineage abnormalities such as anemia (34%), leukopenia (5.8%), thrombocytopenia (3.3%) are reported, but pancytopenia is a rare presentation of hyperthyroidism. (endocrine-abstracts.org)
- She was admitted to a hospital with a diagnosis of aplastic anemia, pancytopenia, and thrombocytopenia. (cdc.gov)
Aplastic5
- Megaloblastic anemia, hypersplenism and aplastic anemia are the common causes of pancytopenia in our study. (unboundmedicine.com)
- Conditions such as aplastic anemia, myelodysplastic syndromes (MDS), and leukemia can impair the production of blood cells in the bone marrow, leading to pancytopenia. (justburyme.com)
- Unlike aplastic anemia, pancytopenia can never be considered a normal finding. (differencebetweenz.com)
- Aplastic anemia and pancytopenia are both serious conditions that can be life-threatening. (differencebetweenz.com)
- If you are experiencing any of the symptoms of aplastic anemia or pancytopenia, it is important to seek medical help as soon as possible. (differencebetweenz.com)
Generalized lymphadenopathy3
- We present two unique cases in which two HIV positive patients with generalized lymphadenopathy and pancytopenia without any skin lesions were diagnosed with primary lymph node Kaposi´s Sarcoma after excisional biopsy of an inguinal lymph node. (scientificarchives.com)
- Two men who have sex with men (MSM) patients between 20-23 years old, were admitted to Roosevelt Hospital in Guatemala because of generalized lymphadenopathy and pancytopenia. (scientificarchives.com)
- We present two consecutive HIV patients without skin lesions and with generalized lymphadenopathy and pancytopenia diagnosed with Kaposi's sarcoma of lymph nodes with excisional biopsy. (scientificarchives.com)
Syndrome9
- People with ataxia-pancytopenia syndrome have neurological problems associated with a loss of tissue (atrophy) and other changes in the cerebellum. (medlineplus.gov)
- Ataxia-pancytopenia syndrome also causes a shortage of one or more types of normal blood cells: red blood cells, white blood cells, and platelets. (medlineplus.gov)
- Ataxia-pancytopenia syndrome is also associated with an increased risk of certain cancerous conditions of the blood, particularly myelodysplastic syndrome and acute myeloid leukemia . (medlineplus.gov)
- Ataxia-pancytopenia syndrome appears to be very rare. (medlineplus.gov)
- Ataxia-pancytopenia syndrome is caused by inherited mutations in the SAMD9L gene. (medlineplus.gov)
- The mutations that cause ataxia-pancytopenia syndrome are described as "gain-of-function. (medlineplus.gov)
- It is unclear how the effects of these mutations are related to ataxia and the other neurological problems associated with ataxia-pancytopenia syndrome. (medlineplus.gov)
- Bone marrow failure syndrome (BMFS) is a group of disorders that may manifest as single cytopenia (eg, erythroid, myeloid, or megakaryocytic) or as pancytopenia. (medscape.com)
- Follow this link to review classifications for Pancytopenia-developmental delay syndrome in Orphanet. (nih.gov)
Anemia3
- Anemia caused by pancytopenia can result in paleness of the skin and mucous membranes, as well as shortness of breath. (justburyme.com)
- Severe anemia caused by pancytopenia can lead to complications such as heart failure, organ damage, and reduced oxygen supply to tissues and organs. (justburyme.com)
- It was described for the first time by Fanconi in 1927, in a case report of three brothers with a condition of progressive anemia, pancytopenia, physical anomalies and hyperpigmentation of the skin 1 . (bvsalud.org)
Diagnosis2
- This case highlights the differential diagnosis for pancytopenia , cytopenia patterns for different tick -borne illnesses, the risk of premature closure in internal medicine , and management of Lyme disease in hosts with altered immunity . (bvsalud.org)
- SCD patients with fever, severe anaemia or pancytopenia should be investigated for early diagnosis and prompt treatment of IAH, which is a life- threatening haematological emergency for which transfusion therapy alone may not suffice. (bvsalud.org)
Severe7
- We report a unique case of antibiotic-induced TEN developed in a patient who also suffered from prolonged severe methotrexate-induced pancytopenia. (spandidos-publications.com)
- For individuals with severe and persistent pancytopenia, a bone marrow transplant may be considered. (justburyme.com)
- In the worst-case scenario, untreated or uncontrolled pancytopenia can lead to severe complications and potentially life-threatening situations. (justburyme.com)
- When pancytopenia is mild, it does not cause any symptoms, but when it is severe, it can cause symptoms like pale skin, shortness of breath, dizziness, and easy bruising. (icliniq.com)
- Neonatal pancytopenia and severe combined immunodeficiency associated " by D B DeWitte, M K Buick et al. (lvhn.org)
- Neonatal pancytopenia and severe combined immunodeficiency associated with antenatal administration of azathioprine and prednisone. (lvhn.org)
- IAH in SCD manifests as febrile haemolytic crisis with clinical and laboratory features of severe anaemia or pancytopenia. (bvsalud.org)
Bone10
- Iatrogenic causes of pancytopenia include chemotherapy for malignancies if the drug or drugs used cause bone marrow suppression. (wikipedia.org)
- Pancytopenia usually requires a bone marrow biopsy in order to distinguish among different causes. (wikipedia.org)
- It appears that certain cells in the bone marrow with an inherited gain-of-function SAMD9L gene mutation can develop additional genetic changes that are associated with milder pancytopenia but an increased cancer risk. (medlineplus.gov)
- I was a victim of Pancytopenia, a rare bone marrow disease, that had already cost me too much of my life. (patientconfessions.com)
- Viral infections, such as hepatitis, HIV, and Epstein-Barr virus, can suppress the bone marrow and contribute to pancytopenia. (justburyme.com)
- In some cases, pancytopenia can be a precursor to the development of leukemia, a type of cancer affecting the bone marrow and blood cells. (justburyme.com)
- If pancytopenia is caused by an underlying bone marrow disorder, there is a risk of malignant transformation and progression to leukemia if left untreated. (justburyme.com)
- Pancytopenia can be caused by a number of underlying conditions, such as cancer, liver disease, or bone marrow failure. (differencebetweenz.com)
- From what you have mentioned, your father has pancytopenia which is the failure of the bone marrow to produce new blood cells. (icliniq.com)
- While her pancytopenia was initially attributed to tick -borne illness, peripheral flow cytometry showed 7% myeloblasts , and a bone marrow biopsy confirmed 60% blasts. (bvsalud.org)
Symptoms2
- The symptoms of pancytopenia can vary depending on the severity of the condition. (justburyme.com)
- The symptoms that develop in the patient depend largely on the underlying cause leading to pancytopenia. (petmd.com)
Platelet2
- The reduced platelet count in pancytopenia impairs the blood clotting process, leading to an increased risk of bleeding. (justburyme.com)
- The child is having pancytopenia presentation means WBC 9white blood cells), platelet, and hemoglobin are all low. (icliniq.com)
Hepatitis1
- If those poisoned survive the initial illness, they usually develop hepatitis and pancytopenia within 1 week, and may also experience peripheral neuropathy 1-3 weeks after the exposure. (cdc.gov)
Peripheral1
- Pancytopenia is the reduction below the normal values of all the three peripheral linages of the blood namely erythrocytes, leucocytes and platelets. (journalcra.com)
Chemotherapy1
- Certain medications, including chemotherapy drugs and some antibiotics, can cause pancytopenia as a side effect. (justburyme.com)
Etiology2
- The mechanisms for pancytopenia differ according to the etiology. (wikipedia.org)
- This study was done to describe the etiology, presentation and outcome of patients with pancytopenia presenting in a general medical ward. (unboundmedicine.com)
Disease1
- Treatment depends on the primary condition that led to pancytopenia, as it is essential that the primary disease be diagnosed and treated first. (petmd.com)
Severity2
- They prevent an overactive SAMD9L protein from excessively restricting cell proliferation, which reduces the severity of pancytopenia in affected individuals. (medlineplus.gov)
- The treatment of pancytopenia depends on the underlying cause and the severity of the condition. (justburyme.com)
Young adult1
- Anur, P , Nemecek, ER & Kurre, P 2009, ' The evolving spectrum of 'non-classical' Diamond-Blackfan anaemia - A case of eADA positive pancytopenia in a young adult ', British Journal of Haematology , vol. 145, no. 3, pp. 428-430. (elsevierpure.com)
Exposure1
- Exposure to toxins, such as radiation or heavy metals, may also lead to pancytopenia. (justburyme.com)
Infections1
- Pancytopenia compromises the immune system, making individuals more susceptible to infections. (justburyme.com)
Deficiency4
- Sometimes there are obvious clinical clues to suggest underlying B12 deficiency for a cause of pancytopenia. (wikipedia.org)
- Pancytopenia is a medical condition that results from a deficiency of all three major types of blood cells: red blood cells, white blood cells, and platelets. (differencebetweenz.com)
- Iron deficiency anaemia being the most common cause of anaemia, we wanted to study the correlation of pancytopenia and vitamin B12 deficiency in anaemic adolescents. (journalcra.com)
- The study shows there is a significant correlation between pancytopenia and Vitamin B12 deficiency. (journalcra.com)
Susceptible1
- There is no specific age, or breed of animal known to be more susceptible to the development of pancytopenia. (petmd.com)
Reduction2
- Pancytopenia is a medical condition in which there is significant reduction in the number of almost all blood cells (red blood cells, white blood cells, platelets, monocytes, lymphocytes, etc. (wikipedia.org)
- Pancytopenia refers to the simultaneous reduction in the number of RBCs, WBCs, and platelets in the bloodstream. (justburyme.com)
Condition5
- Pancytopenia, on the other hand, is a condition characterized by a decrease in the number of all three types of blood cells. (differencebetweenz.com)
- Pancytopenia is a serious condition that can be life-threatening if not properly managed. (differencebetweenz.com)
- Pancytopenia is a condition when there are too low red blood cells, white blood cells, and platelets. (icliniq.com)
- A veterinary exam is necessary to determine the underlying cause of pancytopenia, and to diagnose the condition itself. (petmd.com)
- Cats in the UK are dying from a blood condition, pancytopenia, that may be linked to widely sold dry cat food brands. (animalcouriers.com)
Immune2
- Diseases like systemic lupus erythematosus (SLE) and rheumatoid arthritis can cause the immune system to attack healthy blood cells, resulting in pancytopenia. (justburyme.com)
- Immunosuppressants may be prescribed to suppress the immune response in autoimmune-related pancytopenia. (justburyme.com)
Chances1
- In this article, we will explore the process of getting approved for life insurance with pancytopenia and provide some helpful tips to increase your chances of approval. (justburyme.com)
Clinical2
- There has been little systematic study on the clinical spectrum of pancytopenia. (unboundmedicine.com)
- AU - Ishtiaq,Osama, AU - Baqai,Haider Z, AU - Anwer,Faiz, AU - Hussain,Nisar, PY - 2004/5/6/pubmed PY - 2004/5/28/medline PY - 2004/5/6/entrez SP - 8 EP - 13 JF - Journal of Ayub Medical College, Abbottabad : JAMC JO - J Ayub Med Coll Abbottabad VL - 16 IS - 1 N2 - BACKGROUND: There has been little systematic study on the clinical spectrum of pancytopenia. (unboundmedicine.com)
Initially1
- His investigations initially revealed leucocytosis which then subsequently developed into pancytopenia. (pediatriconcall.com)
Toxic1
- Paquet P, Jacob E, Pirson J and Pierard GE: Drug-induced toxic epidermal necrolysis and pancytopenia: A puzzling association. (spandidos-publications.com)
Result1
- These may be classified into those that result in pancytopenia and those limited to failure of 1 or 2 hematopoietic lineages. (medscape.com)
Treatment1
- For cats with cancer, there is a danger of developing pancytopenia as a side effect of cancer treatment, and frequent CBC monitoring will need to be done. (petmd.com)
Diagnostic approach1
- The diagnostic approach is the same as for pancytopenia. (wikipedia.org)
Illness1
- Smear Campaign: Misattribution of Pancytopenia to a Tick-Borne Illness. (bvsalud.org)
Study1
- Hundred patients with pancytopenia were included in the study from October 2001 to October 2002. (unboundmedicine.com)
Cases1
- It's important to note that not all cases of pancytopenia will progress to these worst-case scenarios. (justburyme.com)