Pompe disease is a rare multisystem genetic disorder that is characterized by absence or deficiency of the lysosomal enzyme alpha-glucosidase (GAA). This enzyme is required to breakdown (metabolize) the complex carbohydrate glycogen and convert it into the simple sugar glucose.

Glycogen storage disease (GSD, also glycogenosis and dextrinosis) is the result of defects in the processing of glycogen synthesis or breakdown within muscles, liver, and other cell types. GSD has two classes of cause: genetic and acquired.

Lysosomal storage diseases (LSDs; /ˌlaɪsəˈsoʊməl/) are a group of approximately 50 rare inherited metabolic disorders that result from defects in lysosomal function. Lysosomes are sacs of enzymes within cells that digest large molecules and pass the fragments on to other parts of the cell for recycling.

Major signs and symptoms include enlargement of the liver and spleen (hepatosplenomegaly), a low number of red blood cells (anemia), easy bruising caused by a decrease in blood platelets (thrombocytopenia), lung disease, and bone abnormalities such as bone pain, fractures, and arthritis.

They were victims of caisson disease. This condition, also known as the bends or decompression sickness, is caused by the formation of gas bubbles in the body. Human body tissues contain small amounts of the gases present in the air.

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A visual prosthesis, often referred to as a bionic eye, is an experimental visual device intended to restore functional vision in those suffering from partial or total blindness. In 1983 Joao Lobo Antunes, a Portuguese doctor, implanted a bionic eye in a person born blind.

Myelodysplastic syndromes are a group of cancers in which immature blood cells in the bone marrow do not mature or become healthy blood cells. In a healthy person, the bone marrow makes blood stem cells (immature cells) that become mature blood cells over time.Aug 12, 2015

Cancer starts when cells in a part of the body begins to grow out of control and can spread to other areas of the body. There are many kinds of cancer. Cells in nearly any part of the body can become cancer. To learn more about how cancers start and spread, see What Is Cancer? Leukemias are cancers that start in cells that would normally develop into different types of blood cells. Here we will talk about acute myeloid leukemia (AML). Acute myeloid leukemia (AML) has many other names, including acute myelocytic leukemia, acute myelogenous leukemia, acute granulocytic leukemia, and acute non-lymphocytic leukemia. “Acute” means that this leukemia can progress quickly if not treated, and would probably be fatal in a few months. “Myeloid” refers to the type of cell this leukemia starts from. Most cases of AML develop from cells that would turn into white blood cells (other than lymphocytes), but some cases of AML develop in other types of blood-forming cells. The different types of AML are listed in “ How is acute myeloid leukemia classified?” AML starts in the bone marrow (the soft inner part of certain bones, where new blood cells are made), but in most cases it quickly moves into the blood. It can sometimes spread to other parts of the body including the lymph nodes, liver, spleen, central nervous system (brain and spinal cord), and testicles. Other types of cancer can start in these organs and then spread to the bone marrow. But these cancers that start elsewhere and then spread to the bone marrow are not leukemias. Normal bone marrow, blood, and lymphoid tissue To understand the different types of leukemia, it helps to know about the blood and lymph systems.

Graft-versus-host disease (GVHD) is a common complication after an allogeneic transplant, a transplant in which cells from a family member, unrelated donor or cord blood unit are used. In GVHD, the immune cells from the donated marrow or cord blood (the graft) attack the body of the transplant patient (the host).

Fungal infections in bone marrow transplant patients. PURPOSE OF REVIEW: Invasive fungal infections have become the leading infectious cause of death in recipients of hematopoietic cell transplantation. Several factors have led to a renaissance in the study of invasive fungal infections.

Bone pain: Pain is the most common sign of bone cancer, and may become more noticeable as the tumor grows. Bone pain can cause a dull or deep ache in a bone or bone region (e.g., back, pelvis, legs, ribs, arms). Early on, the pain may only occur at night, or when you are active.

A bone marrow biopsy is part of a bone marrow test that takes a sample of your solid bone tissue. This test looks for abnormalities in your blood cells and signs of any diseases. You can request anesthesia or a sedative before the biopsy, and manage any pain afterward with over-the-counter medications.

The bone marrow aspiration is usually done first. The doctor makes a small incision, then inserts a hollow needle through the bone and into the bone marrow. Using a syringe attached to the needle, the doctor withdraws a sample of the liquid portion of the bone marrow. You may feel a brief sharp pain or stinging.

Pain in the affected bone is the most common complaint of patients with bone cancer. At first, the pain is not constant. It may be worse at night or when the bone is used (for example, leg pain when walking). As the cancer grows, the pain will be there all the time. The pain increases with activity and the person might limp if a leg is involved.

With bone marrow disease, there are problems with the stem cells or how they develop: In leukemia, a cancer of the blood, the bone marrow makes abnormal white blood cells. In aplastic anemia, the bone marrow doesn't make red blood cells. In myeloproliferative disorders, the bone marrow makes too many white blood cells.Nov 22, 2016

COMMON BLOOD DISORDERS

How do we make blood clots?

Life Before Birth - In the Womb

Massive PE causing hemodynamic instability (shock and/or low blood pressure, defined as a systolic blood pressure <90 mmHg or a pressure drop of 40 mmHg for >15 min if not caused by new-onset arrhythmia, hypovolemia or sepsis) is an indication for thrombolysis, the enzymatic destruction of the clot with medication.