Dr. Perlstein received his Medical Degree from the University of Cincinnati and then completed his internship and residency in pediatrics at The New York Hospital, Cornell medical Center in New York City. After serving an additional year as Chief Pediatric Resident, he worked as a private practitioner and then was appointed Director of Ambulatory Pediatrics at St. Barnabas Hospital in the Bronx.
Dr. Shiel received a Bachelor of Science degree with honors from the University of Notre Dame. There he was involved in research in radiation biology and received the Huisking Scholarship. After graduating from St. Louis University School of Medicine, he completed his Internal Medicine residency and Rheumatology fellowship at the University of California, Irvine. He is board-certified in Internal Medicine and Rheumatology.
The Bernard-Soulier Syndrome (B-SS) is a rare inherited bleeding disorder caused by abnormal platelets and subsequent abnormal clotting. It is one of the
giant platelet syndromes. This syndrome was originally described in 1948 by two physicians who were treating a patient with a bleeding problem. They discovered that this patient had a prolonged bleeding time, fewer platelets, and larger platelets than the normal individual. Since then, the platelet abnormality has been described and determined to be due to the platelets lacking the ability to stick adequately to injured blood-vessel walls. This is a crucial aspect of the process of forming a blood clot, and as a result of this problem, there is abnormal bleeding.
What are the symptoms and signs of Bernard-Soulier syndrome?
Bernard-Soulier syndrome usually
presents in the newborn period, infancy, or early childhood with
bruises, nosebleeds (epistaxis),
and/or gum (gingival) bleeding. Later problems can occur with anything
that can induce bleeding such as menstruation, trauma, surgery, or
stomach ulcers.
What is the cause of Bernard-Soulier syndrome?
Bernard-Soulier syndrome is a rare inherited disease and is transmitted in an autosomal recessive pattern. This means that both parents must carry a gene for the Bernard-Soulier syndrome and transmit that gene to the child for the child to have the disease. The prevalence is believed to be less than
one in 1 million individuals. The molecular basis is now known and is due to a defect in the platelet glycoprotein complex 1b-IX-V. This is referred to as an adhesion complex and forms a receptor that enables platelets to stick together to form a clot. Normal platelets circulate in the blood and are the primary cells responsible for initiating clotting. Without this receptor, platelets cannot stick together and clotting does not occur normally. The parents of a child with B-SS will have a decrease in the glycoprotein but no impairment of platelet function and no abnormal bleeding. The Bernard-Soulier gene has been mapped to the short (p) arm of chromosome 17 (in the region 17pter-17p12).
Anemia is the condition of having less than the normal number of red blood cells or less than the normal quantity of hemoglobin in the blood. The oxygen-carrying capacity of the blood is, therefore, decreased. Symptoms of anemia may include fatigue, malaise, hair loss, palpitations, and more. Treatment for anemia includes treating the underlying cause for the condition. Iron supplements, vitamin B12 injections, and certain medications may also be necessary.
Nosebleed is common in dry climates during winter months, and in hot dry climates with low humidity. Individual taking blood clotting medications, aspirin, or antiinflammatory medications may be more prone to nose bleeding. Other factors that contribute to nosebleed are trauma (including nose picking), rhinitis, and high blood pressure. Treatment depends on the severity of the condition.
Normal vaginal bleeding (menorrhea) occurs through the process of menstruation. Abnormal vaginal bleeding in women who are ovulating regularly most commonly involves excessive, frequent, irregular, or decreased bleeding. Causes of abnormal may arise from a variety of conditions.
A bruise, or contusion, is caused when blood vessels are damaged or broken as the result of a blow to the skin. The raised area of a bump or bruise results from blood leaking from these injured blood vessels into the tissues as well as from the body's response to the injury. Treatments include applying an ice pack and pressure to the area by hand.
Children's health is focused on the well-being of children from conception through adolescence. There are many aspects of children's health, including growth and development, illnesses, injuries, behavior, mental illness, family health and community health.
Normal vaginal bleeding is the periodic blood that flows
as a discharge from
the woman's uterus. Normal vaginal bleeding is also called menorrhea. The
process by which menorrhea occurs is called
menstruation.
Normal vaginal bleeding occurs as a result of cyclic
hormonal changes. The ovaries are the main source of female hormones, which
control the development of
female body characteristics such as the
breasts, body shape, and body hair. The
hormones also regulate the menstrual cycle. The ovary, or female gonad, is one of
a pair of reproductive glands in women. They are located in the pelvis, one on
each side of the uterus. Each ovary is about the size and shape of an almond.
The ovaries produce eggs (ova) and female hormones. During each monthly
menstrual cycle, an egg is released from one ovary. The egg travels from the
ovary through a Fallopian tube to the
uterus.
