Gene Testing in Everyday Clinical Use: Lessons from the Bone Clinic

Bone marrow transplant is a potential cure for several diseases, including cancer and specific genetic disorders. Notably, this procedure is applicable for patients suffering from aplastic anemia, certain types of leukemia, severe combined immunodeficiency disease (SCID), Hodgkin's disease, non-Hodgkin's lymphoma, multiple myeloma, thalassemia, sickle-cell disease, and certain cancers.
The transplant begins with high doses of chemotherapy and radiation treatment, which aim to destroy...

Aging and its effect on bone remodeling is the most common cause of bone disorders. In young and healthy people, bone deposition and resorption happen at an equal rate to maintain optimal bone health.
Bone deposition is also affected by the levels of sex hormones like estrogen and testosterone that promote osteoblast activity and bone matrix synthesis. When the level of these hormones decreases due to aging, it causes a reduction in bone deposition. As a result, bone resorption by osteoclasts...

The two main features of a long bone are the diaphysis and the epiphysis.
The diaphysis is the tubular shaft that runs between the proximal and distal ends of the bone. The walls of the diaphysis are composed of dense and hard compact bone made of numerous osteons — the functional unit of the compact bone. The hollow region in the diaphysis is called the medullary cavity, which harbors the bone marrow. In infants and children, this marrow cavity is filled with red marrow, whereas in...

Most bones contain compact and spongy osseous tissue, but their distribution and concentration vary based on the bone's overall function.
Compact bone, also called cortical bone, is the denser, stronger of the two types of bone tissue. It is found under the periosteum and in the diaphyses of long bones, where it provides support and protection. The microscopic structural unit of compact bone is called an osteon, or haversian system. Each osteon is composed of concentric rings of calcified...

The bones of the human skeletal system are of varied shapes, sizes, and functions. They can be classified based on their shape and function into four major classes: long bones, short bones, flat bones, and irregular bones. Some classifications include a fifth type, the sesamoid bones, as a separate class, whereas others categorize them under short bones.
Long and Short Bones
The appendicular skeleton, particularly the upper and lower limbs, is primarily made of long and short bones. The...