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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
Ear Examination ENT is often a challenging examination, crossing over with the cranial nerve examination of the vestibular cochlear exam as well at other neurological assessments of balance
Here we will review the ear examination, looking both at the use of the otoscope, but also the Dix-Hallpike Manoeuvre, along with HINTS assessment. the Webers and Rinne's test is also included to determine types of hearing loss.
Often these ear examination techniques are performed separately, depending on the patients presenting complaint
#EARExamination #DrGill #ClinicalSkills
High blood pressure is a common condition in which the long-term force of the blood against your artery walls is high enough that it may eventually cause health problems, such as heart disease. Blood pressure is determined both by the amount of blood your heart pumps and the amount of resistance to blood flow in your arteries. The more blood your heart pumps and the narrower your arteries, the higher your blood pressure. You can have high blood pressure (hypertension) for years without any symptoms. Even without symptoms, damage to blood vessels and your heart continues and can be detected. Uncontrolled high blood pressure increases your risk of serious health problems, including heart attack and stroke. High blood pressure generally develops over many years, and it affects nearly everyone eventually. Fortunately, high blood pressure can be easily detected. And once you know you have high blood pressure, you can work with your doctor to control it.
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.
Microscopic polyangiitis (MPA) is vasculitis of small vessels. It was initially considered as a microscopic form of polyarteritis nodosa (PAN). In 1990, the American College of Rheumatology developed classification criteria for several types of systemic vasculitis but did not distinguish between polyarteritis nodosa and microscopic polyarteritis nodosa. [1] In 1994, a group of experts held an international consensus conference in Chapel Hill, North Carolina, to attempt to redefine the classification of small vessel vasculitides. [2, 3]
Multiple sclerosis (MS) is a potentially disabling disease of the brain and spinal cord (central nervous system). In MS, the immune system attacks the protective sheath (myelin) that covers nerve fibers and causes communication problems between your brain and the rest of your body. Eventually, the disease can cause the nerves themselves to deteriorate or become permanently damaged. Signs and symptoms of MS vary widely and depend on the amount of nerve damage and which nerves are affected. Some people with severe MS may lose the ability to walk independently or at all, while others may experience long periods of remission without any new symptoms. There's no cure for multiple sclerosis. However, treatments can help speed recovery from attacks, modify the course of the disease and manage symptoms
Uterine fibroids are noncancerous growths of the uterus that often appear during childbearing years. Also called leiomyomas (lie-o-my-O-muhs) or myomas, uterine fibroids aren't associated with an increased risk of uterine cancer and almost never develop into cancer. Fibroids range in size from seedlings, undetectable by the human eye, to bulky masses that can distort and enlarge the uterus. You can have a single fibroid or multiple ones. In extreme cases, multiple fibroids can expand the uterus so much that it reaches the rib cage. Many women have uterine fibroids sometime during their lives. But most women don't know they have uterine fibroids because they often cause no symptoms. Your doctor may discover fibroids incidentally during a pelvic exam or prenatal ultrasound.
Thoracic outlet syndrome is a group of disorders that occur when blood vessels or nerves in the space between your collarbone and your first rib (thoracic outlet) are compressed. This can cause pain in your shoulders and neck and numbness in your fingers. Common causes of thoracic outlet syndrome include physical trauma from a car accident, repetitive injuries from job- or sports-related activities, certain anatomical defects (such as having an extra rib), and pregnancy. Sometimes doctors can't determine the cause of thoracic outlet syndrome. Treatment for thoracic outlet syndrome usually involves physical therapy and pain relief measures. Most people improve with these approaches. In some cases, however, your doctor may recommend surgery.
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.
procedure is usually done in the hospital or outpatient surgical center under general anesthesia (while you are asleep and pain-free). The procedure is performed in the following way: The surgeon makes a small cut (incision) below the belly button (navel). A needle or tube is inserted into the incision. Carbon dioxide gas is passed into the abdomen through the needle or tube. The gas helps expand the area, giving the surgeon more room to work, and helping the surgeon see the organs more clearly. A tube is placed through the cut in your abdomen. A tiny video camera (laparoscope) goes through this tube and is used to see the inside of your pelvis and abdomen. More small cuts may be made if other instruments are needed to get a better view of certain organs. If you are having gynecologic laparoscopy, dye may be injected into your cervix area so the surgeon can view your fallopian tubes. After the exam, the gas, laparoscope, and instruments are removed, and the cuts are closed. You will have bandages over those areas.
Chemotherapy (often abbreviated to chemo and sometimes CTX or CTx) is a category of cancer treatment that uses chemical substances, especially one or more anti-cancer drugs (chemotherapeutic agents) that are given as part of a standardized chemotherapy regimen.
Euthyroid sick syndrome (ESS), sick euthyroid syndrome (SES), thyroid allostasis in critical illness, tumours, uremia and starvation (TACITUS), non-thyroidal illness syndrome (NTIS) or low T3 low T4 syndrome is a state of adaptation or dysregulation of thyrotropic feedback control where the levels of T3 and/or T4 are ...
Colorectal cancer (also known as colon cancer, rectal cancer or bowel cancer) is the development of cancer in the colon or rectum (parts of the large intestine). It is due to the abnormal growth of cells that have the ability to invade or spread to other parts of the body. People with HNPCC tend to develop colon cancer before age 50. Familial adenomatous polyposis (FAP). FAP is a rare disorder that causes you to develop thousands of polyps in the lining of your colon and rectum. People with untreated FAP have a greatly increased risk of developing colon cancer before age 40.
Hypothyroidism during pregnancy is treated with synthetic thyroid hormone, thyroxine (T4). Postpartum thyroiditis—inflammation of the thyroid gland—causes a brief period of hyperthyroidism, often followed by hypothyroidism that usually goes away within a year. Sometimes the hypothyroidism is permanent.
Signs and symptoms of colon cancer include: A change in your bowel habits, including diarrhea or constipation or a change in the consistency of your stool, that lasts longer than four weeks Rectal bleeding or blood in your stool Persistent abdominal discomfort, such as cramps, gas or pain A feeling that your bowel doesn't empty completely Weakness or fatigue Unexplained weight loss Many people with colon cancer experience no symptoms in the early stages of the disease. When symptoms appear, they'll likely vary, depending on the cancer's size and location in your large intestine.
The shoulder and arm receives its nerve supply through the brachial plexus. The brachial plexus is a complex network of nerves which come out of the neck, passes down to the front of the shoulder and then splits into many separate nerves to travel to different muscles and parts of the skin. Normally an arm movement is produced by initially thinking of the movement, then a message passes from the brain, down through the spinal cord to the appropriate nerve. Then the instruction to move is conveyed along the nerve to the specific arm muscle which then contracts and moves the arm.
A water birth means at least part of your labor, delivery, or both happen while you’re in a birth pool filled with warm water. It can take place in a hospital, a birthing center, or at home. A doctor, nurse-midwife, or midwife helps you through it. In the U.S., some birthing centers and hospitals offer water births. Birthing centers are medical facilities that offer a more homelike setting than a hospital and more natural options for women having babies. The use of a birthing pool during the first stage of labor might: Help ease pain Keep you from needing anesthesia Speed up your labor The American College of Obstetricians and Gynecologists (ACOG), which sets guidelines for pregnancy and childbirth care in the U.S., says a water birth during the first stage of labor may have some benefits but delivering your baby underwater should be considered an experimental procedure with risks. The first stage is from when contractions start until your cervix is fully dilated.