Marfan syndrome is a genetic disorder that affects the body’s connective tissue. Connective tissue holds all the body’s cells, organs and tissue together. It also plays an important role in helping the body grow and develop properly. marfan_general_2.jpg What is Marfan Syndrome?Connective tissue is made up of proteins. The protein that plays a role in Marfan syndrome is called fibrillin-1. Marfan syndrome is caused by a defect (or mutation) in the gene that tells the body how to make fibrillin-1. This mutation results in an increase in a protein called transforming growth factor beta, or TGF-β. The increase in TGF-β causes problems in connective tissues throughout the body, which in turn creates the features and medical problems associated with Marfan syndrome and some related disorders. Because connective tissue is found throughout the body, Marfan syndrome can affect many different parts of the body, as well. Features of the disorder are most often found in the heart, blood vessels, bones, joints, and eyes. Some Marfan features – for example, aortic enlargement (expansion of the main blood vessel that carries blood away from the heart to the rest of the body) – can be life-threatening. The lungs, skin and nervous system may also be affected. Marfan syndrome does not affect intelligence.

Uterine polyps are growths attached to the inner wall of the uterus that extend into the uterine cavity. Overgrowth of cells in the lining of the uterus (endometrium) leads to the formation of uterine polyps, also known as endometrial polyps. These polyps are usually noncancerous (benign), although some can be cancerous or can eventually turn into cancer (precancerous polyps). Uterine polyps range in size from a few millimeters — no larger than a sesame seed — to several centimeters — golf-ball-size or larger. They attach to the uterine wall by a large base or a thin stalk.

Enchondroma (Cartilage) benign tumor of the finger.

MRI of Bone Tumor

Zumba in Operation room

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.

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.

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.

There are 3 genetic types of FHH based on chromosome location. FHH type 1 accounts for 65% of cases and is due to inactivating mutations in the CASR gene, localized to 3q21.1. This gene encodes the calcium-sensing receptor (CaSR). Loss of CaSR function results in a reduction in the sensitivity of parathyroid and renal cells to calcium levels so hypercalcemia is perceived as normal. The other 35% have either a mutation GNA11 (19p13.3) seen in FHH type 2 or AP2S1 (19q13.2-q13.3) seen in FHH type 3 (see these terms) or in genes not yet discovered. FHH is rarely caused by auto-antibodies against CaSR in those without a mutation.

Experts do not know the exact cause of Zollinger-Ellison syndrome. About 25 to 30 percent of gastrinomas are caused by an inherited genetic disorder called multiple endocrine neoplasia type 1 (MEN1). MEN1 causes hormone-releasing tumors in the endocrine glands and the duodenum.

A febrile seizure is a convulsion in a child that may be caused by a spike in body temperature, often from an infection. Your child's having a febrile seizure can be alarming, and the few minutes it lasts can seem like an eternity. Febrile seizures represent a unique response of a child's brain to fever, usually the first day of a fever. Fortunately, they're usually harmless and typically don't indicate an ongoing problem. You can help by keeping your child safe during a febrile seizure and by comforting him or her afterward.

This was a Nasogastric Intubation that went very wrong. The tube went up into the brain, causing severe damage, instead of going down through the throat.

-Osler-Rendu-Weber syndrome is characterized by multiple telangiectasias and vascular lesions of the CNS.

A retroverted uterus (tilted uterus, tipped uterus) is a uterus that is tilted posteriorly. This is in contrast to the slightly "anteverted" uterus that most women have, which is tipped forward toward the bladder, with the anterior end slightly concave.

Adenomyosis is a condition in which the inner lining of the uterus (the endometrium) breaks through the muscle wall of the uterus (the myometrium). Adenomyosis can cause menstrual cramps, lower abdominal pressure, and bloating before menstrual periods and can result in heavy periods.

Cervical cerclage can be placed via transvaginal, open transabdominal, or laparoscopic transabdominal approach, preferably before pregnancy. Recurrent late miscarriages may be due to a weak (sometimes called an incompetent) cervix that shortens or opens too early in pregnancy. Cervical cerclage involves placing a stitch around the upper part of the cervix to keep it closed; the operation may be carried out through the vagina, or through the abdomen, as an open or laparoscopic ('keyhole') procedure.

Limbal dermoid is a congenital growth on the eye that forms from germline cells that get trapped in this region during embryogenesis. The dermoid often has tissue from multiple germ layers including hair and fat. Dermoids on the eye can cause astigmatism and be unsightly.

Lipoma From Foot (Inter Digital Web Space) Removal Technique

The male reproductive system includes the scrotum, testes, spermatic ducts, sex glands, and penis. These organs work together to produce sperm, the male gamete, and the other components of semen.

Conduct disorder (CD) is a mental disorder diagnosed in childhood or adolescence that presents itself through a repetitive and persistent pattern of behavior in which the basic rights of others or major age-appropriate norms are violated. These behaviors are often referred to as "antisocial behaviors."