Homocystinuria is an inherited disorder that affects the metabolism of the amino acid methionine. Amino acids are the building blocks of life. Causes Homocystinuria is inherited in families as an autosomal recessive trait. This means that the child must inherit a non-working copy of the gene from each parent to be seriously affected. Homocystinuria has several features in common with Marfan syndrome, including joint and eye changes. Symptoms Newborn infants appear healthy. Early symptoms, if present, are not obvious. Symptoms may occur as mildly delayed development or failure to thrive. Increasing visual problems may lead to diagnosis of this condition. Other symptoms include: Chest deformities (pectus carinatum, pectus excavatum) Flush across the cheeks High arches of the feet Intellectual disability Knock knees Long limbs Mental disorders Nearsightedness Spidery fingers (arachnodactyly) Tall, thin build

Cystinuria is a condition characterized by the buildup of the amino acid cystine, a building block of most proteins, in the kidneys and bladder. As the kidneys filter blood to create urine, cystine is normally absorbed back into the bloodstream. People with cystinuria cannot properly reabsorb cystine into their bloodstream, so the amino acid accumulates in their urine. As urine becomes more concentrated in the kidneys, the excess cystine forms crystals. Larger crystals become stones that may lodge in the kidneys or in the bladder. Sometimes cystine crystals combine with calcium molecules in the kidneys to form large stones. These crystals and stones can create blockages in the urinary tract and reduce the ability of the kidneys to eliminate waste through urine. The stones also provide sites where bacteria may cause infections.

Retinoblastoma is an eye cancer that begins in the retina — the sensitive lining on the inside of your eye. Retinoblastoma most commonly affects young children, but can rarely occur in adults. Your retina is made up of nerve tissue that senses light as it comes through the front of your eye. The retina sends signals through your optic nerve to your brain, where these signals are interpreted as images. A rare form of eye cancer, retinoblastoma is the most common form of cancer affecting the eye in children. Retinoblastoma may occur in one or both eyes.

Any independent vertical movement of the transducer or the patient will affect the hydrostatic column of this fluid-filled system and thus alter the pressure measurements. At some time before or after PAC insertion, the system must therefore be zeroed to ambient air pressure. The reference point for this is the midpoint of the left atrium (LA), estimated as the fourth intercostal space in the midaxillary line with the patient in the supine position. With the transducer at this height, the membrane is exposed to atmospheric pressure, and the monitor is then adjusted to zero. Calibration Once zeroed, the monitoring system must be calibrated for accuracy. Currently, most monitors perform an automated electronic calibration. Two methods are used to manually calibrate and check the system. If the catheter has not been inserted, the distal tip of the PAC is raised to a specified height above the LA. For example, raising the tip 20 cm above the LA should produce a reading of approximately 15 mm Hg if the system is working properly (1 mm Hg equals 1.36 cm H 2 O). Alternatively, pressure can be applied externally to the transducer and adjusted to a known level using a mercury or aneroid manometer. The monitor then is adjusted to read this pressure, and the system is calibrated. Dynamic tuning Central pressures are dynamic waveforms (ie, they vary from systole to diastole) and thus have a periodic frequency. To monitor these pressures accurately, the system requires an appropriate frequency response. A poorly responsive system produces inaccurate pressure readings, and differentiating waveforms (eg, PA from pulmonary capillary wedge pressure [PCWP]) can become difficult. When signal energy is lost, the pressure waveform is dampened. Common causes of this are air bubbles (which are compressible), long or compliant tubing, vessel wall impingement, intracatheter debris, transducer malfunction, and loose connections in the tubing. A qualitative test of the frequency response is performed by flicking the catheter and observing a brisk high-frequency response in the waveform. After insertion, the system can be checked by using the rapid flush test. When flushed, an appropriately responsive system shows an initial horizontal straight line with a high-pressure reading. Once the flushing is terminated, the pressure drops immediately, which is represented by a vertical line that plunges below the baseline. A brief and well-defined oscillation occurs, followed by return of the PA waveform. A dampened system will not overshoot or oscillate, and causes a delay in returning to the PA waveform.

The average time from symptom onset to diagnosis has been reported to be approximately 2 years. Despite recent attempts at increasing the awareness of pulmonary arterial hypertension (PAH), especially associated PAH (APAH), this delay in diagnosis has not changed appreciably in recent years. Early symptoms are nonspecific. Often, neither the patient nor the physician recognizes the presence of the disease, which leads to delays in diagnosis. Complicating matters, idiopathic PAH (IPAH) requires an extensive workup in an attempt to elucidate an identifiable cause of the elevated pulmonary artery pressure. The most common symptoms and their frequency, reported in a national prospective study, are as follows: Dyspnea (60% of patients) Weakness (19%) Recurrent syncope (13%) Additional symptoms include fatigue, lethargy, anorexia, chest pain, and right upper quadrant pain. Cough, hemoptysis, and hoarseness are less common symptoms. Women are more likely to be symptomatic than men.

This video: Pericarditis is swelling and irritation of the pericardium, the thin sac-like membrane surrounding your heart. Pericarditis often causes chest pain and sometimes other symptoms. The sharp chest pain associated with pericarditis occurs when the irritated layers of the pericardium rub against each other. Pericarditis usually begins suddenly but doesn't last long (acute). When symptoms develop more gradually or persist, pericarditis is considered chronic. Most cases are mild and usually improve on their own. Treatment for more-severe cases may include medications and, rarely, surgery. Early diagnosis and treatment may help to reduce the risk of long-term complications from pericarditis.

Benign paroxysmal positional vertigo (BPPV) is one of the most common causes of vertigo — the sudden sensation that you're spinning or that the inside of your head is spinning. Benign paroxysmal positional vertigo causes brief episodes of mild to intense dizziness. Benign paroxysmal positional vertigo is usually triggered by specific changes in the position of your head. This might occur when you tip your head up or down, when you lie down, or when you turn over or sit up in bed. Although benign paroxysmal positional vertigo can be a bothersome problem, it's rarely serious except when it increases the chance of falls. You can receive effective treatment for benign paroxysmal positional vertigo during a doctor's office visit

Epley maneuver: Step 1 You will sit on the doctor's exam table with your legs extended in front of you. The doctor will turn your head so that it is halfway between looking straight ahead and looking directly to the side that causes the worst vertigo. Without changing your head position, the doctor will guide you back quickly so that your shoulders are on the table but your head is hanging over the edge of the table. In this position, the side of your head that is causing the worst vertigo is facing the floor. The doctor will hold you in this position for 30 seconds or until your vertigo stops. Epley maneuver: Step 2 Then, without lifting up your head, the doctor will turn your head to look at the same angle to the opposite side, so that the other side of your head is now facing the floor. The doctor will hold you in this position for 30 seconds or until your vertigo stops. Epley maneuver: Step 3 The doctor will help you roll in the same direction you are facing so that you are now lying on your side. (For example, if you are looking to your right, you will roll onto your right side.) The side that causes the worst vertigo should be facing up. The doctor will hold you in this position for another 30 seconds or until your vertigo stops. Epley maneuver: Step 4 The doctor will then help you to sit back up with your legs hanging off the table on the same side that you were facing. This maneuver is done with the assistance of a doctor or physical therapist. A single 10- to 15-minute session usually is all that is needed. When your head is firmly moved into different positions, the crystal debris (canaliths) causing vertigo will move freely and no longer cause symptoms.

Vertigo is a sensation of spinning. If you have these dizzy spells, you might feel like you are spinning or that the world around you is spinning. Causes of Vertigo Vertigo is often caused by an inner ear problem. Some of the most common causes include: BPPV. These initials stand for benign paroxysmal positional vertigo. BPPV occurs when tiny calcium particles (canaliths) clump up in canals of the inner ear. The inner ear sends signals to the brain about head and body movements relative to gravity. It helps you keep your balance. BPPV can occur for no known reason and may be associated with age. Meniere's disease. This is an inner ear disorder thought to be caused by a buildup of fluid and changing pressure in the ear. It can cause episodes of vertigo along with ringing in the ears (tinnitus) and hearing loss. Vestibular neuritis or labyrinthitis. This is an inner ear problem usually related to infection (usually viral). The infection causes inflammation in the inner ear around nerves that are important for helping the body sense balance

Megacolon, as well as megarectum, is a descriptive term. It denotes dilatation of the colon that is not caused by mechanical obstruction.[1, 2] Although the definition of megacolon has varied in the literature, most researchers use the measurement of greater than 12 cm for the cecum as the standard. Because the diameter of the large intestine varies, the following definitions would also be considered: greater than 6.5 cm in the rectosigmoid region and greater than 8 cm for the ascending colon. Megacolon can be divided into the following 3 categories: Acute megacolon ( pseudo-obstruction) Chronic megacolon, which includes congenital, acquired, and idiopathic causes Toxic megacolon

Men need to know that breast cancer is not limited to women. Possible symptoms of breast cancer to watch for include: A lump or swelling, which is usually (but not always) painless Skin dimpling or puckering Nipple retraction (turning inward) Redness or scaling of the nipple or breast skin Discharge from the nipple Sometimes a breast cancer can spread to lymph nodes under the arm or around the collar bone and cause a lump or swelling there, even before the original tumor in the breast tissue is large enough to be felt. These changes aren't always caused by cancer. For example, most breast lumps in men are caused by gynecomastia (a harmless enlargement of breast tissue). Still, if you notice any breast changes, you should see a health care professional as soon as possible.

The menstrual cycle is the monthly series of changes a woman's body goes through in preparation for the possibility of pregnancy. Each month, one of the ovaries releases an egg — a process called ovulation. At the same time, hormonal changes prepare the uterus for pregnancy.

Emphysema gradually damages the air sacs (alveoli) in your lungs, making you progressively more short of breath. Emphysema is one of several diseases known collectively as chronic obstructive pulmonary disease Smoking is the leading cause of emphysema. Your lungs' alveoli are clustered like bunches of grapes. In emphysema, the inner walls of the air sacs weaken and eventually rupture — creating one larger air space instead of many small ones. This reduces the surface area of the lungs and, in turn, the amount of oxygen that reaches your bloodstream. When you exhale, the damaged alveoli don't work properly and old air becomes trapped, leaving no room for fresh, oxygen-rich air to enter. Treatment may slow the progression of emphysema, but it can't reverse the damage.

Emphysema gradually damages the air sacs (alveoli) in your lungs, making you progressively more short of breath. Emphysema is one of several diseases known collectively as chronic obstructive pulmonary disease (COPD). Smoking is the leading cause of emphysema. Your lungs' alveoli are clustered like bunches of grapes. In emphysema, the inner walls of the air sacs weaken and eventually rupture — creating one larger air space instead of many small ones. This reduces the surface area of the lungs and, in turn, the amount of oxygen that reaches your bloodstream. When you exhale, the damaged alveoli don't work properly and old air becomes trapped, leaving no room for fresh, oxygen-rich air to enter. Treatment may slow the progression of emphysema, but it can't reverse the damage.

Acute bronchitis and pneumonia share many of the same symptoms, and some people with acute bronchitis are at risk for getting pneumonia. Although acute bronchitis usually goes away within a few weeks, pneumonia can be a serious condition, especially in older adults. The following table outlines some differences between acute bronchitis and pneumonia. There are variations in symptoms of both conditions, so if you think you might have pneumonia, always check with your doctor.

A Hundred Orgasms A Day follow the story of 3 women who were tormented every hour of everyday with the need to have orgasm. This documentary explain how Persistent Sexual Arousal Syndrome or PSAS causes this unusual condition. PSAS is a little know neurological disorder where women have symptoms of continuous uncontrollable genital arousal. This condition is unrelated to any kind of sensations of sexual desire. PSAS was initially documented by Doctor Sandra Leiblum in mid 2001, just recently recognized as a unique syndrome in medical science which has a comparable equivalent progressively more claimed by men. A few physicians makes use of the name Persistent Sexual Arousal Syndrome to reference the disorder in women; some others look at the syndrome of priapism in adult males to be a similar disorder. Most importantly, it is really not connected with hyper-sexuality, also known as nymphomania. Both hyper-sexuality, and nymphomania are not known diagnosable health conditions. Not only is it very rare, the disorder is also seldom reported by affected individual who may think it is embarrassing.

Inflammation of the uvula is known as uvulitis. Your uvula will appear red, puffy, and larger than normal. Other symptoms of uvulitis may include: itching burning a sore throat spots on your throat snoring difficulty swallowing trouble breathing If you have a swollen uvula along with a fever or abdominal pain, consult with your doctor right away. In rare cases, the uvula can swell enough to block your airway. Swelling of the throat is a life-threatening event. If this happens, seek immediate medical attention. What causes a swollen uvula? Causes Inflammation is your body’s response when it’s under attack. Triggers for inflammation include: environmental and lifestyle factors an infection trauma genetics Environmental and Lifestyle Factors The most common food allergies are peanuts tree nuts milk eggs wheat soy fish, including shellfish You could be having an allergic reaction to something you touched, swallowed, or breathed in. Some common allergens include: food irritants , such as dust, animal dander, or pollen medication exposure to chemicals or other toxic substances, including tobacco Infection You can get viral infections or bacterial infections. Examples of viral infections include: the common cold the flu mononucleosis chickenpox measles croup The most common bacterial infection is strep throat, which occurs due to Streptococcus pyogenes, which is a type of group A Streptococcus. If you have infected tonsils, or tonsillitis, severe inflammation can cause them to push against and irritate your uvula. Trauma Trauma to the uvula can happen if you need an intubation, such as during surgery. Your uvula can also be injured during a tonsillectomy. This is a procedure to remove your tonsils, which are located on both sides of your uvula. Your throat and uvula can also become irritated if you have acid reflux disease or if you vomit frequently. Genetics A condition called hereditary angioedema (HAE) can cause swelling of the uvula and throat, as well as swelling of the face, hands, and feet. Other symptoms include nausea, vomiting, and abdominal pain. It’s an uncommon genetic mutation that occurs in 1 in 10,000 to 1 in 50,000 people. It’s rare, but there are case reports of individuals who have an elongated uvula, which can also interfere with breathing. What are the risk factors for a swollen uvula? Risk Factors Anyone can get uvulitis, but adults get it less often than children do. You’re at increased risk if you: have allergies use tobacco products are exposed to chemicals and other irritants in the environment have a weakened immune system, making you more susceptible to infections How is a swollen uvula diagnosed? Diagnosis If you have fever or swelling of your throat, see your doctor. Be prepared to give a complete medical history. Tell your doctor: about all the over-the-counter and prescription medications you take if you’re a smoker or you chew tobacco if you’ve recently tried new foods if you’ve been exposed to chemicals or unusual substances about your other symptoms, such as abdominal pain, fever, or dehydration Your doctor may be able to make a diagnosis through a physical exam. It’s likely you’ll also need a throat swab to evaluate for strep or to obtain secretions for culture to determine if you have another bacterial or fungal infection. This test is known as the rapid strep test. You may also need a nasal swab to test for influenza. Blood testing can help identify or rule out some other infectious agents. If those tests are inconclusive, you may need to see an allergist. Blood and skin tests can help identify foods or other substances that cause a reaction. Learn more: Allergy testing » If necessary, imaging tests can provide a more detailed view of your throat and the surrounding area. What’s the treatment for a swollen uvula? Treatment When you have something like the common cold, swelling usually clears up on its own without treatment. Otherwise, treatment will depend on how severe your symptoms are, as well as what’s causing the inflammation. Infection Viral infections tend to clear up without treatment. The only upper respiratory infection for which an antiviral medication is available is influenza. Antibiotics can treat bacterial infections. Even after symptoms clear up, take all the medication as prescribed. If your condition may be contagious, stay home until your doctor tells you that you’re no longer at risk of spreading it to others. Allergy If you test positive for an allergy, try to avoid the allergen in the future. Doctors usually treat allergies with antihistamines or steroids. Anaphylaxis is a severe allergic reaction. Doctors use epinephrine to treat this reaction. Hereditary angioedema Your doctor may treat HAE with any of the following: anabolic steroids, or androgens antifibrinolytics C1 inhibitors, such as C1 esterase inhibitor (Berinert) or C1 esterase inhibitor (recombinant) (Ruconest) a plasma kallikrein inhibitor, such as ecallantide (Kalbitor) bradykinin receptor antagonist, such as icatibant injection (Firazyr) Tell your doctor if you have new or worsening symptoms, and follow up as necessary. Tips for relief home treatment If you have a swollen uvula or sore throat, it’s your body’s way of telling you that something is wrong. A few home remedies can help keep you strong and soothe your irritated throat. Make sure you’re getting enough fluids. If your throat hurts when you drink, try drinking small amounts throughout the day. Your urine should be light in color. If it’s dark yellow or brown, you’re not drinking enough and may be dehydrated. Additional tips include the following: Cool your throat by sucking on ice chips. Frozen juice bars or ice cream may also do the trick. Gargle with warm salt water to ease your dry, scratchy throat. Aim for a full night’s sleep, and nap during the day if you can. What’s the outlook? Outlook A swollen uvula isn’t a common occurrence. Most of the time it clears up without treatment. If you have an infection, prompt treatment should take care of the problem within a week or two. If you have allergies that lead to swelling of the uvula or throat, do your best to avoid that allergen. You should also be prepared to deal with an attack if you come into contact with the substance again. If you’ve ever had anaphylaxis, ask your doctor if you should carry injectable epinephrine (EpiPen) in case of emergency. People with HAE must learn to recognize triggers and early warning signs of an attack. Talk to your doctor about how to manage HAE. 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Strep throat is a bacterial infection that can make your throat feel sore and scratchy. Strep throat accounts for only a small portion of sore throats. If untreated, strep throat can cause complications, such as kidney inflammation or rheumatic fever. Rheumatic fever can lead to painful and inflamed joints, a specific type of rash or heart valve damage. Strep throat is most common in children, but it affects people of all ages. If you or your child has signs or symptoms of strep throat, see your doctor for prompt testing and treatment.

Hypothyroidism is a condition in which the body lacks sufficient thyroid hormone. Since the main purpose of thyroid hormone is to "run the body's metabolism," it is understandable that people with this condition will have symptoms associated with a slow metabolism. The estimates vary, but approximately 10 million Americans have this common medical condition. In fact, as many as 10% of women may have some degree of thyroid hormone deficiency. Hypothyroidism is more common than you would believe, and millions of people are currently hypothyroid and don't know it.

Your Little Finger Reveals What Kind of a Person You Are