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Genetic surfactant dysfunction disorders are caused by mutations in genes encoding proteins critical for the production and function of pulmonary surfactant. These rare disorders may produce familial or sporadic lung disease, with clinical presentations ranging from neonatal respiratory failure to childhood- or adult-onset interstitial lung disease. An overview of these disorders is presented in the table.. Interstitial lung diseases in children until recently were categorized by their histologic appearance in a manner similar to that used for adult forms of interstitial lung disease (ILD). In children, the lung histopathology findings associated with desquamative interstitial pneumonitis (DIP) are now known to often result from genetic mechanisms that disrupt normal surfactant production and metabolism. By contrast, DIP in adults is considered to represent a distinct type of ILD, which is strongly associated with cigarette smoking and carries a relatively favorable prognosis [1]. These genetic disorders also result in histopathologic patterns other than DIP, including findings of pulmonary alveolar proteinosis and chronic pneumonitis of infancy. An understanding of the pathogenesis of these disorders permits a mechanistic classification as genetic surfactant dysfunction disorders instead of their previous classification based upon histologic appearance.
Wilson's disease is a rare inherited disorder that causes too much copper to accumulate in your liver, brain and other vital organs. Symptoms typically begin between the ages of 12 and 23. Copper plays a key role in the development of healthy nerves, bones, collagen and the skin pigment melanin. Normally, copper is absorbed from your food, and any excess is excreted through bile — a substance produced in your liver.
Carpal tunnel syndrome is a hand condition that causes numbness, tingling and other symptoms. Carpal tunnel syndrome is caused by a pinched nerve in your wrists A number of factors can contribute to carpal tunnel syndrome, including the anatomy of your wrist, certain underlying health problems and possibly patterns of hand use. Bound by bones and ligaments, the carpal tunnel is a narrow passageway located on the palm side of your wrist. This tunnel protects a main nerve to your hand and the nine tendons that bend your fingers. Compression of the nerve produces the numbness, tingling and, eventually, hand weakness that characterize carpal tunnel syndrome.
A sleep disorder, or somnipathy, is a medical disorder of the sleep patterns of a person or animal. Some sleep disorders are serious enough to interfere with normal physical, mental, social and emotional functioning. Polysomnography and actigraphy are tests commonly ordered for some sleep disorders.
Hepatitis A is a highly contagious liver infection caused by the hepatitis A virus. The virus is one of several types of hepatitis viruses that cause inflammation and affect your liver's ability to function. You're most likely to contract hepatitis A from contaminated food or water or from close contact with someone who's infected. Mild cases of hepatitis A don't require treatment, and most people who are infected recover completely with no permanent liver damage. Practicing good hygiene, including washing hands frequently, is one of the best ways to protect against hepatitis A. Vaccines are available for people most at risk.
Pulmonary fibrosis is a condition in which the tissue deep in your lungs becomes scarred over time. This tissue gets thick and stiff. That makes it hard for you to catch your breath, and your blood may not get enough oxygen. Causes of pulmonary fibrosis include environmental pollutants, some medicines, some connective tissue diseases, and interstitial lung disease. Interstitial lung disease is the name for a large group of diseases that inflame or scar the lungs. In most cases, the cause cannot be found. This is called idiopathic pulmonary fibrosis
Menorrhagia is the medical term for menstrual periods with abnormally heavy or prolonged bleeding. Although heavy menstrual bleeding is a common concern among premenopausal women, most women don't experience blood loss severe enough to be defined as menorrhagia. With menorrhagia, every period you have causes enough blood loss and cramping that you can't maintain your usual activities. If you have menstrual bleeding so heavy that you dread your period, talk with your doctor. There are many effective treatments for menorrhagia.
Mitral Valve Prolapse and Mitral Regurgitation. Review of mitral valve anatomy and function, including papillary muscle structure and function, with severe mitral valve prolapse and mitral regurgitation due to a flail segment caused by ruptured papillary muscle and chorda tendinae attachment.
In some cases, the doctor will recommend that the couple seek assisted reproductive technologies (ART), such as IVF (in vitro fertilisation). ART do not cure or treat the cause of infertility but they can help couples achieve a pregnancy, even if the man's sperm count is very low.
Instead, try these natural solutions and lifestyle changes, which may help you stop snoring. Change Your Sleep Position. ... Lose Weight. ... Avoid Alcohol. ... Practice Good Sleep Hygiene. ... Open Nasal Passages. ... Change Your Pillows. ... Stay Well Hydrated.
The spleen, a spongy, soft organ about as big as a person’s fist, is located in the upper left part of the abdomen, just under the rib cage. The splenic artery brings blood to the spleen from the heart. Blood leaves the spleen through the splenic vein, which drains into a larger vein (the portal vein) that carries the blood to the liver. The spleen has a covering of fibrous tissue (the splenic capsule) that supports its blood vessels and lymphatic vessels. The spleen is made up of two basic types of tissue, each with different functions: White pulp Red pulp The white pulp is part of the infection-fighting (immune) system. It produces white blood cells called lymphocytes, which in turn produce antibodies (specialized proteins that protect against invasion by foreign substances). The red pulp filters the blood, removing unwanted material. The red pulp contains other white blood cells called phagocytes that ingest microorganisms, such as bacteria, fungi, and viruses. It also monitors red blood cells, destroying those that are abnormal or too old or damaged to function properly. In addition, the red pulp serves as a reservoir for different elements of the blood, especially white blood cells and platelets (cell-like particles involved in clotting). However, releasing these elements is a minor function of the red pulp.
An anal fissure is a small tear in the thin, moist tissue (mucosa) that lines the anus. An anal fissure may occur when you pass hard or large stools during a bowel movement. Anal fissures typically cause pain and bleeding with bowel movements. You also may experience spasms in the ring of muscle at the end of your anus (anal sphincter). Anal fissures are very common in young infants but can affect people of any age. Most anal fissures get better with simple treatments, such as increased fiber intake or sitz baths. Some people with anal fissures may need medication or, occasionally, surgery.
Neurosyphilis is an infection of the brain or spinal cord caused by the spirochete Treponema pallidum. It usually occurs in people who have had chronic, untreated syphilis, usually about 10 to 20 years after first infection and develops in about 25%–40% of persons who are not treated. The United States' Centers for Disease Control and Prevention (CDC) advises that neurosyphilis can occur at any stage of a syphilis infection.
Schizophreniform disorder is a mental disorder diagnosed when symptoms of schizophrenia are present for a significant portion of the time within a one-month period, but signs of disruption are not present for the full six months required for the diagnosis of schizophrenia.