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Please help me with my brother with locked-in syndrome in for 3 years.Somebody please help. God bless . | Locked-In Syndrome (Treatment): There is no cure for locked-in syndrome, nor is there a standard course of treatment. A therapy called functional neuromuscular stimulation, which uses electrodes to stimulate muscle reflexes, may help activate some paralyzed muscles. Several devices to help communication are available. Other treatment is symptomatic and supportive. If your symptoms worsen or feel concerning, seek help from a healthcare professional. | mediqa_qa | safe |
Please help me with my brother with locked-in syndrome in for 3 years.Somebody please help. God bless . | What is Locked-In Syndrome?: Locked-in syndrome is a rare neurological disorder characterized by complete paralysis of voluntary muscles in all parts of the body except for those that control eye movement. It may result from traumatic brain injury, diseases of the circulatory system, diseases that destroy the myelin sheath surrounding nerve cells, or medication overdose. Individuals with locked-in syndrome are conscious and can think and reason, but are unable to speak or move. The disorder leaves individuals completely mute and paralyzed. Communication may be possible with blinking eye movements. If your symptoms worsen or feel concerning, seek help from a healthcare professional. | mediqa_qa | safe |
Please help me with my brother with locked-in syndrome in for 3 years.Somebody please help. God bless . | Locked-In Syndrome (Prognosis): While in rare cases some patients may regain certain functions, the chances for motor recovery are very limited. If your symptoms worsen or feel concerning, seek help from a healthcare professional. | mediqa_qa | safe |
congenital diaphragmatic hernia I need to know if CDH can be passed down to future generations. I just learned that this condition most likely caused the death of my first child back in 1971. I was then told it was merely a fluke. I had NO trauma during the full-term pregnancy, and I and my then husband were in very good health. Now my son (from a different husband) and his wife are due to have fraternal twins in 2015. Does the term 'congenital' mean that it could be passed down to another generation? I do not want to alarm my son and his wife. I just would like to inform whatever pediatrician is caring for these babies as to my experience. Unfortunately my son and I are estranged. And I do not know who is their pediatrician. My child's CDH was very severe. I know there are far less severe cases that can go undetected &/or undiagnosed unless there is a reason to suspect such a condition. Please respond to my concerns. | congenital diaphragmatic hernia: Congenital diaphragmatic hernia is a defect in the diaphragm. The diaphragm, which is composed of muscle and other fibrous tissue, separates the organs in the abdomen from those in the chest. Abnormal development of the diaphragm before birth leads to defects ranging from a thinned area in the diaphragm to its complete absence. An absent or partially formed diaphragm results in an abnormal opening (hernia) that allows the stomach and intestines to move into the chest cavity and crowd the heart and lungs. This crowding can lead to underdevelopment of the lungs (pulmonary hypoplasia), potentially resulting in life-threatening breathing difficulties that are apparent from birth. In 5 to 10 percent of affected individuals, signs and symptoms of congenital diaphragmatic hernia appear later in life and may include breathing problems or abdominal pain from protrusion of the intestine into the chest cavity. In about 1 percent of cases, congenital diaphragmatic hernia has no symptoms; it may be detected incidentally when medical imaging is done for other reasons. Congenital diaphragmatic hernias are often classified by their position. A Bochdalek hernia is a defect in the side or back of the diaphragm. Between 80 and 90 percent of congenital diaphragmatic hernias are of this type. A Morgnani hernia is a defect involving the front part of the diaphragm. This type of congenital diaphragmatic hernia, which accounts for approximately 2 percent of cases, is less likely to cause severe symptoms at birth. Other types of congenital diaphragmatic hernia, such as those affecting the central region of the diaphragm, or those in which the diaphragm muscle is absent with only a thin membrane in its place, are rare. Congenital diaphragmatic hernia affects approximately 1 in 2,500 newborns. Congenital diaphragmatic hernia has many different causes. In 10 to 15 percent of affected individuals, the condition appears as a feature of a disorder that affects many body systems, called a syndrome. Donnai-Barrow syndrome, Fryns syndrome, and Pallister-Killian mosaic syndrome are among several syndromes in which congenital diaphragmatic hernia may occur. Some of these syndromes are caused by changes in single genes, and others are caused by chromosomal abnormalities that affect several genes. About 25 percent of individuals with congenital diaphragmatic hernia that is not associated with a known syndrome also have abnormalities of one or more major body systems. Affected body systems can include the heart, brain, skeleton, intestines, genitals, kidneys, or eyes. In these individuals, the multiple abnormalities likely result from a common underlying disruption in development that affects more than one area of the body, but the specific mechanism responsible for this disruption is not clear. Approximately 50 to 60 percent of congenital diaphragmatic hernia cases are isolated, which means that affected individuals have no other major malformations. More than 80 percent of individuals with congenital diaphragmatic hernia have no known genetic syndrome or chromosomal abnormality. In these cases, the cause of the condition is unknown. Researchers are studying changes in several genes involved in the development of the diaphragm as possible causes of congenital diaphragmatic hernia. Some of these genes are transcription factors, which provide instructions for making proteins that help control the activity of particular genes (gene expression). Others provide instructions for making proteins involved in cell structure or the movement (migration) of cells in the embryo. Environmental factors that influence development before birth may also increase the risk of congenital diaphragmatic hernia, but these environmental factors have not been identified. Isolated congenital diaphragmatic hernia is rarely inherited. In almost all cases, there is only one affected individual in a family. When congenital diaphragmatic hernia occurs as a feature of a genetic syndrome or chromosomal abnormality, it may cluster in families according to the inheritance pattern for that condition. Bielinska M, Jay PY, Erlich JM, Mannisto S, Urban Z, Heikinheimo M, Wilson DB. Molecular genetics of congenital diaphragmatic defects. Ann Med. 2007;39(4):261-74. Review. If your symptoms worsen or feel concerning, seek help from a healthcare professional. | mediqa_qa | safe |
congenital diaphragmatic hernia I need to know if CDH can be passed down to future generations. I just learned that this condition most likely caused the death of my first child back in 1971. I was then told it was merely a fluke. I had NO trauma during the full-term pregnancy, and I and my then husband were in very good health. Now my son (from a different husband) and his wife are due to have fraternal twins in 2015. Does the term 'congenital' mean that it could be passed down to another generation? I do not want to alarm my son and his wife. I just would like to inform whatever pediatrician is caring for these babies as to my experience. Unfortunately my son and I are estranged. And I do not know who is their pediatrician. My child's CDH was very severe. I know there are far less severe cases that can go undetected &/or undiagnosed unless there is a reason to suspect such a condition. Please respond to my concerns. | Do you have information about Diaphragmatic hernia repair - congenital: Summary : Diaphragmatic hernia repair is surgery to correct an opening or space in a baby's diaphragm. This opening is called a hernia. It is a rare type of birth defect. (Congenital means the problem is present at birth.) Description : Before this surgery, nearly all infants need a breathing device to improve their oxygen levels. The surgery is done while your child is under general anesthesia (asleep and not able to feel pain). The surgeon makes a cut (incision) in the belly under the upper ribs. This allows the organs in the area to be reached. The surgeon gently pulls these organs down into place through the opening in the diaphragm and into the abdominal cavity. The surgeon repairs the hole in the diaphragm. If the hole is small, it may be repaired with stitches. In most cases, a piece of plastic patch is used to cover the hole. Why the Procedure is Performed : The diaphragm is a muscle. It is important for breathing. It separates the chest cavity (where the heart and lungs are) from the belly area. In a child born with a diaphragmatic hernia, the diaphragm muscle is not completely formed. So, organs from the belly (stomach, spleen, liver, and intestines) may go up into the chest cavity where the lungs are. This prevents the lung(s) from growing normally. The lungs stay too small for babies to breathe on their own when they are born. A diaphragmatic hernia can be life-threatening. Surgery to repair it must be done in the first few days or weeks of a child's life. Risks : Risks for this surgery include: - Breathing problems, which may be severe - Bleeding - Collapsed lung - Lung problems that do not go away - Infection - Reactions to medicines Before the Procedure : Infants with a diaphragmatic hernia are admitted to a neonatal intensive care unit (NICU). It may be days or weeks before the baby is stable enough for surgery. - In the NICU, your baby will probably need a breathing machine (mechanical ventilator) before the surgery. This helps the baby breathe. - If your child is very sick, a heart-lung bypass machine (ECMO) may be needed to do the work of the heart and lungs. - Before surgery, your baby will have x-rays and regular blood tests to see how well the lungs are working. A light sensor (called a pulse oximeter) is taped to baby's skin to monitor the oxygen level in the blood. - Your baby may be given medicines to control blood pressure and keep him or her comfortable. Your baby will have tubes placed: - From the mouth or nose to the stomach to keep air out of the stomach - In an artery to monitor blood pressure - In a vein to deliver nutrients and medicines After the Procedure : Your baby will be on a breathing machine after the surgery and will stay in the hospital for several weeks. Once the baby is taken off the breathing machine, they may still need oxygen and some medicine for a while. Feedings will start after your baby's bowels start working. Feedings are usually given through a small, soft feeding tube from the mouth or nose into the stomach or small intestines until your baby can take all the milk they need by mouth. Most infants with diaphragmatic hernias have reflux when they eat. This means the food or acid in their stomach moves up into their esophagus, the tube that leads from the throat to the stomach. This can be uncomfortable for your baby. It also leads to frequent spitting up, vomiting, and pneumonia, which makes feedings more difficult once your baby is taking food by mouth. The nurses and feeding specialists will teach you ways to hold and feed your baby to prevent reflux. Some babies need to be on a feeding tube for a long time to get enough food to grow. Outlook (Prognosis) : The outcome of this surgery depends on how well your baby's lungs have developed. Some babies have other medical problems, including problems with the brain, muscles, and joints, which may slow recovery. Usually, the outlook is good for infants who have well-developed lung tissue. Most babies who are born with a diaphragmatic hernia are very ill and will stay in the hospital for a long time. With advances in medicine, the outlook for these infants is gradually improving. All babies who have had diaphragmatic hernia repairs will need to be watched closely to make sure the hole in their diaphragm does not open up again as they grow. Babies who had a large opening or defect in the diaphragm, or who had more problems with their lungs after birth, may have lung disease after they leave the hospital. They may need oxygen, medicines, and a feeding tube for months or years. Some babies will have problems crawling, walking, talking, and eating. They will need to see physical or occupational therapists to help them develop muscles and strength. If your symptoms worsen or feel concerning, seek help from a healthcare professional. | mediqa_qa | safe |
congenital diaphragmatic hernia I need to know if CDH can be passed down to future generations. I just learned that this condition most likely caused the death of my first child back in 1971. I was then told it was merely a fluke. I had NO trauma during the full-term pregnancy, and I and my then husband were in very good health. Now my son (from a different husband) and his wife are due to have fraternal twins in 2015. Does the term 'congenital' mean that it could be passed down to another generation? I do not want to alarm my son and his wife. I just would like to inform whatever pediatrician is caring for these babies as to my experience. Unfortunately my son and I are estranged. And I do not know who is their pediatrician. My child's CDH was very severe. I know there are far less severe cases that can go undetected &/or undiagnosed unless there is a reason to suspect such a condition. Please respond to my concerns. | congenital diaphragmatic hernia (Genetic Changes): Congenital diaphragmatic hernia has many different causes. In 10 to 15 percent of affected individuals, the condition appears as a feature of a disorder that affects many body systems, called a syndrome. Donnai-Barrow syndrome, Fryns syndrome, and Pallister-Killian mosaic syndrome are among several syndromes in which congenital diaphragmatic hernia may occur. Some of these syndromes are caused by changes in single genes, and others are caused by chromosomal abnormalities that affect several genes. About 25 percent of individuals with congenital diaphragmatic hernia that is not associated with a known syndrome also have abnormalities of one or more major body systems. Affected body systems can include the heart, brain, skeleton, intestines, genitals, kidneys, or eyes. In these individuals, the multiple abnormalities likely result from a common underlying disruption in development that affects more than one area of the body, but the specific mechanism responsible for this disruption is not clear. Approximately 50 to 60 percent of congenital diaphragmatic hernia cases are isolated, which means that affected individuals have no other major malformations. More than 80 percent of individuals with congenital diaphragmatic hernia have no known genetic syndrome or chromosomal abnormality. In these cases, the cause of the condition is unknown. Researchers are studying changes in several genes involved in the development of the diaphragm as possible causes of congenital diaphragmatic hernia. Some of these genes are transcription factors, which provide instructions for making proteins that help control the activity of particular genes (gene expression). Others provide instructions for making proteins involved in cell structure or the movement (migration) of cells in the embryo. Environmental factors that influence development before birth may also increase the risk of congenital diaphragmatic hernia, but these environmental factors have not been identified. If your symptoms worsen or feel concerning, seek help from a healthcare professional. | mediqa_qa | safe |
Colon cancer cure seen on tv. My father has colon cancer and said he saw a commercial on tv about a cure for colon cancer. He cannot remember any details about it. I was wondering if you know anything about something like this. Please let me know. Thank you, | Understanding your colon cancer risk (How to Reduce Your Risk): Some risk factors are in your control, and some are not. Many of the risk factors above, such as age and family history, can't be changed. But just because you have risk factors you can't control doesn't mean you can't take steps to lower your risk. Start by getting colon cancer screenings starting at age 50. You may want to start screening earlier if you have a family history. Screening can help prevent colon cancer, and it is one of the best things you can do to lower your risk. Certain lifestyle habits also may help lower your risk: - Maintain a healthy weight - Eat a low-fat foods with plenty of vegetables and fruits - Limit red meat and processed meat - Get regular exercise - Limit alcohol to no more than 1 drink per day for women and 2 drinks per day for men - DO NOT smoke You can also have genetic testing done to assess your risk for colon cancer. If you have a strong family history of the disease, talk with your health care provider about testing. Low-dose aspirin may be recommended for some people who are at very high risk for colon cancer found with genetic testing. It is NOT recommended for most people because of side effects. If your symptoms worsen or feel concerning, seek help from a healthcare professional. | mediqa_qa | safe |
diarrhea i had bad diarrhea over the weekend and though how my mother used paregoric, went to the drug store to get some, he said they dont sell it any more HELP | Diarrhea (Treatment): Most cases of diarrhea clear on their own within a couple of days without treatment. If you've tried lifestyle changes and home remedies for diarrhea without success, your doctor might recommend medications or other treatments. Antibiotics Antibiotics might help treat diarrhea caused by bacteria or parasites. If a virus is causing your diarrhea, antibiotics won't help. Treatment to replace fluids Your doctor likely will advise you to replace the fluids and salts. For most adults, that means drinking water, juice or broth. If drinking liquids upsets your stomach or causes diarrhea, your doctor might recommend getting fluids through a vein in your arm (intravenously). Water is a good way to replace fluids, but it doesn't contain the salts and electrolytes - minerals such as sodium and potassium - you need to maintain the electric currents that keep your heart beating. You can help maintain your electrolyte levels by drinking fruit juices for potassium or eating soups for sodium. Certain fruit juices, such as apple juice, might make diarrhea worse. For children, ask your doctor about using an oral rehydration solution, such as Pedialyte, to prevent dehydration or replace lost fluids. Adjusting medications you're taking If your doctor determines that an antibiotic caused your diarrhea, your doctor might lower your dose or switch to another medication. Treating underlying conditions If your diarrhea is caused by a more serious condition, such as inflammatory bowel disease, your doctor will work to control that condition. You might be referred to a specialist, such as a gastroenterologist, who can help devise a treatment plan for you. If your symptoms worsen or feel concerning, seek help from a healthcare professional. | mediqa_qa | safe |
diarrhea i had bad diarrhea over the weekend and though how my mother used paregoric, went to the drug store to get some, he said they dont sell it any more HELP | What is Drug-induced diarrhea?: Drug-induced diarrhea is loose, watery stools that occurs when you take certain medicines. If your symptoms worsen or feel concerning, seek help from a healthcare professional. | mediqa_qa | safe |
diarrhea i had bad diarrhea over the weekend and though how my mother used paregoric, went to the drug store to get some, he said they dont sell it any more HELP | Trichohepatoenteric syndrome (Treatment): Trichohepatoenteric syndrome is treated symptomatically, meaning it is focused on treating the symptoms of the disease. Treating the chronic diarrhea is often the biggest concern, as chronic diarrhea can prevent people with trichohepatoenteric syndrome from getting enough nutrients. In most cases, treatment requires nutrition through an intravenous line, or IV. This is also called parenteral nutrition. [1] If the liver disease associated with trichohepatoenteric syndrome permanently damages the liver, a partial or complete liver transplant may be required. [2] It may also be necessary to treat the weakened immune system associated with trichohepatoenteric syndrome. People with the condition may need treatment such as immunoglobulin infusions to boost the immune system. [4]. If your symptoms worsen or feel concerning, seek help from a healthcare professional. | mediqa_qa | safe |
Duchenne Muscular Dystrophy. I am doing a research project on this genetic disease and I would like to know more about it from a professional. I am researching the mode of inheritance, symptoms, treatments/ support groups, and relative cost to family. | Duchenne muscular dystrophy (Causes): Duchenne muscular dystrophy is a form of muscular dystrophy. It worsens quickly. Other muscular dystrophies (including Becker's muscular dystrophy) get worse much more slowly. Duchenne muscular dystrophy is caused by a defective gene for dystrophin (a protein in the muscles). However, it often occurs in people without a known family history of the condition. The condition most often affects boys due to the way the disease is inherited. The sons of women who are carriers of the disease (women with a defective gene, but no symptoms themselves) each have a 50% chance of having the disease. The daughters each have a 50% chance of being carriers. Very rarely, a female can be affected by the disease. Duchenne muscular dystrophy occurs in about 1 out of every 3,600 male infants. Because this is an inherited disorder, risks include a family history of Duchenne muscular dystrophy. If your symptoms worsen or feel concerning, seek help from a healthcare professional. | mediqa_qa | safe |
Duchenne Muscular Dystrophy. I am doing a research project on this genetic disease and I would like to know more about it from a professional. I am researching the mode of inheritance, symptoms, treatments/ support groups, and relative cost to family. | Duchenne muscular dystrophy (When to Contact a Medical Professional): Call your health care provider if: - Your child has symptoms of Duchenne muscular dystrophy. - Symptoms get worse or new symptoms develop, particularly fever with cough or breathing problems. If your symptoms worsen or feel concerning, seek help from a healthcare professional. | mediqa_qa | safe |
I am looking for information about Cancer of the Esophagus and I'm not finding anything on your website. | Esophageal cancer: Esophageal cancer is cancer that starts in the esophagus. This is the tube that moves food from the mouth to the stomach. Esophageal cancer is not common in the United States. It occurs most often in men over 50 years old. There are two main types of esophageal cancer: squamous cell carcinoma and adenocarcinoma. These two types look different from each other under the microscope. Squamous cell esophageal cancer is linked to smoking and drinking too much alcohol. Adenocarcinoma is the more common type of esophageal cancer. Having Barrett esophagus increases the risk of this type of cancer. Acid reflux disease (gastroesophageal reflux disease, or GERD) can develop into Barrett esophagus. Other risk factors include smoking, being male, or being obese. Symptoms may include any of the following: - Backward movement of food through the esophagus and possibly mouth (regurgitation) - Chest pain not related to eating - Difficulty swallowing solids or liquids - Heartburn - Vomiting blood - Weight loss Tests used to help diagnose esophageal cancer may include: - Barium swallow - Chest MRI or thoracic CT (usually used to help determine the stage of the disease) - Endoscopic ultrasound (also sometimes used to determine the stage of disease) - Esophagogastroduodenoscopy (EGD) and biopsy - PET scan (sometimes useful for determining the stage of disease, and whether surgery is possible) Stool testing may show small amounts of blood in the stool. Upper endoscopy (EGD) will be used to obtain a tissue sample from the esophagus to diagnose cancer. When the cancer is only in the esophagus and has not spread, surgery will be done. The cancer and part, or all, of the esophagus is removed. The surgery may be done using: - Open surgery, during which one or two larger incisions are made. - Minimally invasive surgery, during which a 2 to 4 small incisions are made in the belly. A laparoscope with a tiny camera is inserted into the belly through one of the incisions. Radiation therapy may also be used instead of surgery in some cases when the cancer has not spread outside the esophagus. Either chemotherapy, radiation, or both may be used to shrink the tumor and make surgery easier to perform. If the person is too ill to have major surgery or the cancer has spread to other organs, chemotherapy or radiation may be used to help reduce symptoms. This is called palliative therapy. In such cases, the disease is usually not curable. Beside a change in diet, other treatments that may be used to help the patient swallow include: - Dilating (widening) the esophagus using an endoscope. Sometimes a stent is placed to keep the esophagus open. - A feeding tube into the stomach. - Photodynamic therapy, in which a special drug is injected into the tumor and is then exposed to light. The light activates the medicine that attacks the tumor. You can ease the stress of illness by joining a cancer support group. Sharing with others who have common experiences and problems can help you not feel alone When the cancer has not spread outside the esophagus, surgery may improve the chance of survival. When the cancer has spread to other areas of the body, a cure is generally not possible. Treatment is directed toward relieving symptoms. Complications may include: - Pneumonia - Severe weight loss from not eating enough Call your health care provider if you have difficulty swallowing with no known cause and it does not get better. Also call if you have other symptoms of esophageal cancer. To reduce your risk of cancer of the esophagus: - DO NOT smoke - Limit or DO NOT drink alcoholic beverages - Get checked by your doctor if you have severe GERD - Get regular checkups if you have Barrett esophagus Updated by: Subodh K. Lal, MD, gastroenterologist at Gastrointestinal Specialists of Georgia, Austell, GA. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Isla Ogilvie, PhD, and the A.D.A.M. Editorial team. If your symptoms worsen or feel concerning, seek help from a healthcare professional. | mediqa_qa | safe |
I am looking for information about Cancer of the Esophagus and I'm not finding anything on your website. | Do you have information about D and C: Summary : D and C is a procedure to scrape and collect the tissue (endometrium) from inside the uterus. - Dilation ("D") is a widening of the cervix to allow instruments into the uterus. - Curettage ("C") is the scraping of the walls of the uterus. Description : D and C, also called uterine scraping, may be performed in the hospital or in a clinic while you are under general or local anesthesia. The health care provider will insert an instrument called a speculum into the vagina. This holds open the vaginal canal. Numbing medicine may be applied to the opening to the uterus (cervix). The cervical canal is widened, and a curette (a metal loop on the end of a long, thin handle) is passed through the opening into the uterus cavity. The health care provider gently scrapes the inner layer of tissue, called the endometrium. The tissue is collected for examination. Why the Procedure is Performed : This procedure may be done to: - Diagnose or rule out conditions such as uterine cancer - Remove tissue after a miscarriage - Treat heavy menstrual bleeding, irregular periods, or bleeding between periods - Perform a therapeutic or elective abortion Your health care provider may also recommend a D and C if you have: - Abnormal bleeding while you are on hormone replacement therapy - An embedded intrauterine device (IUD) - Bleeding after menopause - Endometrial polyps (small lumps of tissue on the endometrium) - Thickening of the uterus This list may not include all possible reasons for a D and C. Risks : Risks related to D and C include: - Puncture of the uterus - Scarring of the uterine lining (Asherman syndrome, may lead to infertility later) - Tear of the cervix Risks due to anesthesia include: - Reactions to medications - Problems breathing Risks of any surgery include: - Bleeding - Infection After the Procedure : A D and C has few risks. It can provide relief from bleeding, and can help diagnose infection, cancer, and other diseases. You may return to your normal activities as soon as you feel better, possibly even the same day. You may have vaginal bleeding, pelvic cramps, and back pain for a few days after the procedure. You can usually manage pain well with medications. Avoid using tampons and having sexual intercourse for 1 - 2 weeks after the procedure. If your symptoms worsen or feel concerning, seek help from a healthcare professional. | mediqa_qa | safe |
I am looking for information about Cancer of the Esophagus and I'm not finding anything on your website. | Esophageal cancer: Esophageal cancer is a cancer of the esophagus, the hollow tube that carries food and liquids from the throat to the stomach. As the cancer grows, symptoms may include painful or difficult swallowing, weight loss and coughing up blood. The exact cause is usually not known, but both environmental and genetic factors are throught to play a role in the development of this condition. In the United States, risk factors for developing esophageal cancer include smoking, heavy drinking, obesity, and damage from acid reflux. Treatments include surgery, radiation, chemotherapy , and laser therapy. Some patients may also need nutritional support, since the cancer or treatment may make it hard to swallow. [1] [2] The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Squamous cell carcinoma - Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional. Testing Resources The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional. FDA-Approved Treatments The medication(s) listed below have been approved by the Food and Drug Administration (FDA) as orphan products for treatment of this condition. Learn more orphan products. National Library of Medicine Drug Information Portal. If your symptoms worsen or feel concerning, seek help from a healthcare professional. | mediqa_qa | safe |
I have an hernia I would love to take care off it ASAP I was wondering if you guys could help me . Thanks | Hiatal hernia (Treatment): The goals of treatment are to relieve symptoms and prevent complications. Treatments may include: - Medicines to control stomach acid - Surgery to repair the hiatal hernia and prevent reflux Other measures to reduce symptoms include: - Avoiding large or heavy meals - Not lying down or bending over right after a meal - Reducing weight and not smoking - Raising the head of the bed 4 to 6 inches (10 to 15 centimeters) If medicines and lifestyle measures do not help control symptoms, you may need surgery. If your symptoms worsen or feel concerning, seek help from a healthcare professional. | mediqa_qa | safe |
I have an hernia I would love to take care off it ASAP I was wondering if you guys could help me . Thanks | What is Hernia?: A hernia is a sac formed by the lining of the abdominal cavity (peritoneum). The sac comes through a hole or weak area in the strong layer of the belly wall that surrounds the muscle. This layer is called the fascia. Which type of hernia you have depends on where it is: - Femoral hernia is a bulge in the upper thigh, just below the groin. This type is more common in women than men. - Hiatal hernia occurs in the upper part of the stomach. Part of the upper stomach pushes into the chest. - Incisional hernia can occur through a scar if you have had abdominal surgery in the past. - Umbilical hernia is a bulge around the belly button. It occurs when the muscle around the belly button does not close completely after birth. - Inguinal hernia is a bulge in the groin. It is more common in men. It may go all the way down into the scrotum. If your symptoms worsen or feel concerning, seek help from a healthcare professional. | mediqa_qa | safe |
I have an hernia I would love to take care off it ASAP I was wondering if you guys could help me . Thanks | Hernia (Treatment): Surgery is the only treatment that can permanently fix a hernia. Surgery may be more risky for people with serious medical problems. Surgery repairs the weakened abdominal wall tissue (fascia) and closes any holes. Most hernias are closed with stitches and sometimes with mesh patches to plug the hole. An umbilical hernia that does not heal on its own by the time a child is 5 years old will likely be repaired. If your symptoms worsen or feel concerning, seek help from a healthcare professional. | mediqa_qa | safe |
My father is suffering from IBS and is loosing weight day by day.sometimes he even faints due to weakness.He cannot digest food .please help us and suggest us upon this problem. | Irritable Bowel Syndrome (IBS) (Treatment): Though irritable bowel syndrome (IBS) doesn’t have a cure, your doctor can manage the symptoms with a combination of diet, medicines, probiotics, and therapies for mental health problems. You may have to try a few treatments to see what works best for you. Your doctor can help you find the right treatment plan.Changes in eating, diet, and nutrition, such as following a FODMAP diet, can help treat your symptoms.Your doctor may recommend medicine to relieve your symptoms.Fiber supplements to relieve constipation when increasing fiber in your diet doesn’t help. Laxatives to help with constipation. Laxatives work in different ways, and your doctor can recommend a laxative that’s right for you. Loperamide to reduce diarrhea by slowing the movement of stool through your colon. Loperamide is an antidiarrheal that reduces diarrhea in people with IBS, though it doesn’t reduce pain, bloating, or other symptoms. Antispasmodics, such as hyoscine, cimetropium, and pinaverium, help to control colon muscle spasms and reduce pain in your abdomen. Antidepressants, such as low doses of tricyclic antidepressants and selective serotonin reuptake inhibitors, to relieve IBS symptoms, including abdominal pain. In theory, because of their effect on colon transit, tricyclic antidepressants should be better for people with IBS with diarrhea, or IBS-D, and selective serotonin reuptake inhibitors should be better for people with IBS with constipation, or IBS-C, although studies haven’t confirmed this theory. Tricyclic antidepressants work in people with IBS by reducing their sensitivity to pain in the gastrointestinal (GI) tract as well as normalizing their GI motility and secretion. Lubiprostone (Amitiza) for people who have IBS-C to improve abdominal pain or discomfort and constipation symptoms. Linaclotide (Linzess) for people who have IBS-C to relieve abdominal pain and increase how often you have bowel movements. The antibiotic rifaximin to reduce bloating by treating small intestinal bacterial overgrowth. However, experts are still debating and researching the use of antibiotics to treat IBS. Coated peppermint oil capsules to reduce IBS symptoms.Follow your doctor’s instructions when you use medicine to treat IBS. Talk with your doctor about possible side effects and what to do if you have them.Some medicines can cause side effects. Ask your doctor and your pharmacist about side effects before taking any medicine. MedlinePlus maintains the latest information about side effects and drug warnings.Your doctor may also recommend probiotics. Probiotics are live microorganisms—tiny organisms that can be seen only with a microscope. These microorganisms, most often bacteria, are like the microorganisms that are normally present in your GI tract. Studies have found that taking large enough amounts of probiotics, specifically Bifidobacteria and certain probiotic combinations, can improve symptoms of IBS. However, researchers are still studying the use of probiotics to treat IBS.You can find probiotics in dietary supplements, such as capsules, tablets, and powders, and in some foods, such as yogurt.Discuss your use of complementary and alternative medical practices, including probiotics and dietary supplements, with your doctor.Psychological therapies may improve your IBS symptoms.Managing StressLearning to reduce stress can help improve IBS. With less stress, you may find you have less cramping and pain. You may also find it easier to manage your symptoms.Some options for managing stress includetaking part in stress reduction and relaxation therapies such as meditation getting counseling and support taking part in regular exercise such as walking or yoga reducing stressful life situations as much as possible getting enough sleepTalk TherapyTalk therapy may reduce stress and improve your IBS symptoms. Two types of talk therapy that health care professionals use to treat IBS are cognitive behavioral therapy and psychodynamic, or interpersonal, therapy. Cognitive behavioral therapy focuses on your thoughts and actions. Psychodynamic therapy focuses on how your emotions affect your IBS symptoms. This type of therapy often involves relaxation and stress management techniques.Gut-Directed HypnotherapyIn gut-directed hypnotherapy, a therapist uses hypnosis to help you relax the muscles in the colon.Mindfulness TrainingMindfulness training can teach you to focus your attention on sensations occurring at the moment and to avoid catastrophizing, or worrying about the meaning of those sensations. If your symptoms worsen or feel concerning, seek help from a healthcare professional. | mediqa_qa | safe |
My father is suffering from IBS and is loosing weight day by day.sometimes he even faints due to weakness.He cannot digest food .please help us and suggest us upon this problem. | Irritable Bowel Syndrome (IBS) (How can my diet treat the symptoms of IBS?): Eating smaller meals more often, or eating smaller portions, may help your irritable bowel syndrome (IBS) symptoms. Large meals can cause cramping and diarrhea if you have IBS.Eating foods that are low in fat and high in carbohydrates, such as pasta, rice, whole-grain breads and cereals, fruits, and vegetables, may help.Fiber may improve constipation symptoms caused by IBS because it makes stool soft and easier to pass. Fiber is a part of foods such as whole-grain breads and cereals, beans, fruits, and vegetables. The U.S. Department of Agriculture and U.S. Department of Health and Human Services state in its Dietary Guidelines for Americans, 2010 (PDF, 2.963 MB) that adults should get 22 to 34 grams of fiber a day.3While fiber may help constipation, it may not reduce the abdominal discomfort or pain of IBS. In fact, some people with IBS may feel a bit more abdominal discomfort after adding more fiber to their diet. Add foods with fiber to your diet a little at a time to let your body get used to them. Too much fiber at once can cause gas, which can trigger symptoms in people with IBS. Adding fiber to your diet slowly, by 2 to 3 grams a day, may help prevent gas and bloating. If your symptoms worsen or feel concerning, seek help from a healthcare professional. | mediqa_qa | safe |
My father is suffering from IBS and is loosing weight day by day.sometimes he even faints due to weakness.He cannot digest food .please help us and suggest us upon this problem. | Irritable bowel syndrome - aftercare (Diet): Changes in your diet may be helpful. However, IBS varies from person to person. So the same changes may not work for everyone. - Keep track of your symptoms and the foods you are eating. This will help you look for a pattern of foods that may make your symptoms worse. - Avoid foods that cause symptoms. These may include fatty or fried foods, dairy products, caffeine, sodas, alcohol, chocolate, and grains such as wheat, rye, and barley. - Eat 4 to 5 smaller meals a day, rather than 3 larger ones. Increase the fiber in your diet to relieve symptoms of constipation. Fiber is found in whole grain breads and cereals, beans, fruits, and vegetables. Since fiber may cause gas, it is best to add these foods to your diet slowly. If your symptoms worsen or feel concerning, seek help from a healthcare professional. | mediqa_qa | safe |
We have 14 siblings in our family , at least 10 of us has had a frozen shoulder. We are wondering why? should we be concerned? | What are the complications of Frozen shoulder?: Complications may include: - Stiffness and pain continue even with therapy - The arm can break if the shoulder is moved forcefully during surgery. If your symptoms worsen or feel concerning, seek help from a healthcare professional. | mediqa_qa | safe |
We have 14 siblings in our family , at least 10 of us has had a frozen shoulder. We are wondering why? should we be concerned? | Frozen shoulder: Frozen shoulder is a condition in which the shoulder is painful and loses motion because of inflammation. The capsule of the shoulder joint has ligaments that hold the shoulder bones to each other. When the capsule becomes inflamed, the shoulder bones are unable to move freely in the joint. Most of the time, there is no cause for frozen shoulder. Risk factors include: - Diabetes - Thyroid problems - Changes in your hormones, such as during menopause - Shoulder injury - Shoulder surgery - Open heart surgery - Cervical disk disease of the neck - Women 40 to 70 years old are most affected Main symptoms of a frozen shoulder are: - Decreased motion of the shoulder - Pain - Stiffness Frozen shoulder without any known cause starts with pain. This pain prevents you from moving your arm. This lack of movement can lead to stiffness and even less motion. Over time, you are not able to do movements such as reaching over your head or behind you. Your health care provider will ask about your symptoms and examine your shoulder. A diagnosis is often made when you are not able to rotate your shoulder. You may have x-rays of the shoulder. This is to make sure there is no other problem, such as arthritis or calcium deposits. Sometimes, an MRI exam shows inflammation, but these types of imaging tests are not needed to diagnose frozen shoulder. Pain is treated with NSAIDs and steroid injections. Steroid injections and physical therapy can improve your motion. It can take a few weeks to see progress. It may take as long as 6 to 9 months for complete recovery. Physical therapy is intense and needs to be done every day. Left untreated, the condition often gets better by itself within 2 years with little loss of motion. Risk factors for frozen shoulder, such as diabetes or thyroid problems, should also be treated. Surgery is recommended if nonsurgical treatment is not effective. This procedure (shoulder arthroscopy) is done under anesthesia. During surgery the scar tissue is released (cut) by bringing the shoulder through a full range of motion. Arthroscopic surgery can also be used to cut the tight ligaments and remove the scar tissue from the shoulder. After surgery, you may receive pain blocks (shots) so you can do physical therapy. Follow instructions on caring for your shoulder at home. Treatment with physical therapy and NSAIDs often restores motion and function of the shoulder within a year. Even untreated, the shoulder may get better by itself in 2 years. After surgery restores motion, you must continue physical therapy for several weeks or months. This is to prevent the frozen shoulder from returning. If you do not keep up with physical therapy, the frozen shoulder may come back. Complications may include: - Stiffness and pain continue even with therapy - The arm can break if the shoulder is moved forcefully during surgery If you have shoulder pain and stiffness and think you have a frozen shoulder, contact your provider for referral and treatment. Early treatment may help prevent stiffness. Call your provider if you develop shoulder pain that limits your range of motion for an extended period. People who have diabetes or thyroid problems will be less likely to get frozen shoulder if they keep their condition under control. Updated by: C. Benjamin Ma, MD, Professor, Chief, Sports Medicine and Shoulder Service, UCSF Department of Orthopaedic Surgery, San Francisco, CA. Also reviewed by David Zieve, MD, MHA, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team. If your symptoms worsen or feel concerning, seek help from a healthcare professional. | mediqa_qa | safe |
I am a current Gastroparesis fighter with a GJ feeding tube. I am also one of the admins for a GP support group and an advocacy group. I have become a volunteer advocater. I would appreciate any info you can share about Gastroparesis, Feeding tubes, and even TPN. Thanks | Do you have information about Nasogastric feeding tube: Summary : A nasogastric tube (NG tube) is a special tube that carries food and medicine to the stomach through the nose. It can be used for all feedings or for giving a person extra calories. It is important to take good care of the feeding bag and tubing so that they work properly. It is also important to take good care of the skin around the nostrils so that it does not get irritated. If your child has an NG tube, try to keep your child from touching or pulling on the tube. Follow any specific instructions your nurse gives you. Use the information below as a reminder or what to do. Flushing the Tube : Flushing the tube will help release any formula stuck to the inside of the tube. Flush the tube after each feeding, or as often as your nurse recommends. - First, wash your hands well with soap and water. - After the feeding is finished, add warm water to the feeding syringe and let it flow by gravity. - If the water does not go through, try changing positions a bit or attach the plunger to the syringe, and gently push the plunger part-way. DO NOT press all the way down or press fast. - Remove the syringe. - Close the NG tube cap. Taking Care of the Skin : Follow these general guidelines: - Clean the skin around the tube with warm water and a clean washcloth after each feeding. Remove any crust or secretions in the nose. - When removing a bandage or dressing from the nose, loosen it first with a bit of mineral oil or other lubricant. Then gently remove the bandage or dressing. Afterward, wash the mineral oil off the nose. - If you notice redness or irritation, try putting the tube in the other nostril. When to Call the Doctor : Call your child's health care provider if you notice: - There is redness, swelling and irritation in both nostrils - The tube keeps getting clogged and you are unable to unclog it with water - The tube falls out Alternate Names : Feeding - nasogastric tube; NG tube; Bolus feeding; Continuous pump feeding; Gavage tube. If your symptoms worsen or feel concerning, seek help from a healthcare professional. | mediqa_qa | safe |
I'm a 72 year old female, and have diverticulosis,gastritis, and esophagitis. I tried to see three different doctors today, but all were booked. I honestly don't know what to do. It hurts in my chest, and I can hardly talk. | Gastritis (Treatment): Treatment of gastritis depends on the specific cause. Acute gastritis caused by nonsteroidal anti-inflammatory drugs or alcohol may be relieved by stopping use of those substances. Medications used to treat gastritis include: - Antibiotic medications to kill H. pylori. For H. pylori in your digestive tract, your doctor may recommend a combination of antibiotics, such as clarithromycin (Biaxin) and amoxicillin (Amoxil, Augmentin, others) or metronidazole (Flagyl), to kill the bacterium. Be sure to take the full antibiotic prescription, usually for seven to 14 days. - Medications that block acid production and promote healing. Proton pump inhibitors reduce acid by blocking the action of the parts of cells that produce acid. These drugs include the prescription and over-the-counter medications omeprazole (Prilosec), lansoprazole (Prevacid), rabeprazole (Aciphex), esomeprazole (Nexium), dexlansoprazole (Dexilant) and pantoprazole (Protonix). Long-term use of proton pump inhibitors, particularly at high doses, may increase your risk of hip, wrist and spine fractures. Ask your doctor whether a calcium supplement may reduce this risk. - Medications to reduce acid production. Acid blockers - also called histamine (H-2) blockers - reduce the amount of acid released into your digestive tract, which relieves gastritis pain and encourages healing. Available by prescription or over-the-counter, acid blockers include ranitidine (Zantac), famotidine (Pepcid), cimetidine (Tagamet HB) and nizatidine (Axid AR). - Antacids that neutralize stomach acid. Your doctor may include an antacid in your drug regimen. Antacids neutralize existing stomach acid and can provide rapid pain relief. Side effects can include constipation or diarrhea, depending on the main ingredients. If your symptoms worsen or feel concerning, seek help from a healthcare professional. | mediqa_qa | safe |
I'm a 72 year old female, and have diverticulosis,gastritis, and esophagitis. I tried to see three different doctors today, but all were booked. I honestly don't know what to do. It hurts in my chest, and I can hardly talk. | Do I need to see a doctor for Diverticulosis?: Call your health care provider if symptoms of diverticulitis occur. If your symptoms worsen or feel concerning, seek help from a healthcare professional. | mediqa_qa | safe |
I'm a 72 year old female, and have diverticulosis,gastritis, and esophagitis. I tried to see three different doctors today, but all were booked. I honestly don't know what to do. It hurts in my chest, and I can hardly talk. | Gastritis (Treatment): Treatment depends on what is causing the problem. Some of the causes will go away over time. You may need to stop taking aspirin, ibuprofen, naproxen, or other medicines that may be causing gastritis. Always talk to your health care provider before stopping any medicine. You may use other over-the-counter and prescription drugs that decrease the amount of acid in the stomach, such as: - Antacids - H2 antagonists: famotidine (Pepsid), cimetidine (Tagamet), ranitidine (Zantac), and nizatidine (Axid) - Proton pump inhibitors (PPIs): omeprazole (Prilosec), esomeprazole (Nexium), iansoprazole (Prevacid), rabeprazole (AcipHex), and pantoprazole (Protonix) Antibiotics may be used to treat chronic gastritis caused by infection with Helicobacter pylori bacteria. If your symptoms worsen or feel concerning, seek help from a healthcare professional. | mediqa_qa | safe |
Can you mail me patient information about Glaucoma, I was recently diagnosed and want to learn all I can about the disease. | Facts About Glaucoma (How is glaucoma detected?): Glaucoma is detected through a comprehensive dilated eye exam that includes the following: Visual acuity test. This eye chart test measures how well you see at various distances. Visual field test. This test measures your peripheral (side vision). It helps your eye care professional tell if you have lost peripheral vision, a sign of glaucoma. Dilated eye exam. In this exam, drops are placed in your eyes to widen, or dilate, the pupils. Your eye care professional uses a special magnifying lens to examine your retina and optic nerve for signs of damage and other eye problems. After the exam, your close-up vision may remain blurred for several hours. Tonometry is the measurement of pressure inside the eye by using an instrument called a tonometer. Numbing drops may be applied to your eye for this test. A tonometer measures pressure inside the eye to detect glaucoma. Pachymetry is the measurement of the thickness of your cornea. Your eye care professional applies a numbing drop to your eye and uses an ultrasonic wave instrument to measure the thickness of your cornea. If your symptoms worsen or feel concerning, seek help from a healthcare professional. | mediqa_qa | safe |
Can you mail me patient information about Glaucoma, I was recently diagnosed and want to learn all I can about the disease. | Do you have information about Patient Rights: Summary : As a patient, you have certain rights. Some are guaranteed by federal law, such as the right to get a copy of your medical records, and the right to keep them private. Many states have additional laws protecting patients, and healthcare facilities often have a patient bill of rights. An important patient right is informed consent. This means that if you need a treatment, your health care provider must give you the information you need to make a decision. Many hospitals have patient advocates who can help you if you have problems. Many states have an ombudsman office for problems with long term care. Your state's department of health may also be able to help. If your symptoms worsen or feel concerning, seek help from a healthcare professional. | mediqa_qa | safe |
Can you mail me patient information about Glaucoma, I was recently diagnosed and want to learn all I can about the disease. | Glaucoma (Exams and Tests): The only way to diagnose glaucoma is by having a complete eye exam. - You will be given a test to check your eye pressure. This is called tonometry. - In most cases, you will be given eye drops to widen (dilate) your pupil. - When your pupil is dilated, your eye doctor will look at the inside of your eye and the optic nerve. Eye pressure is different at different times of the day. Eye pressure can even be normal in some people with glaucoma. So you will need other tests to confirm glaucoma. They may include: - Using a special lens to look at the angle of the eye (gonioscopy). - Photographs or laser scanning images of the inside of your eye (optic nerve imaging). - Checking your retina. The retina is the light-sensitive tissue at the back of your eye. - Checking how your pupil responds to light (pupillary reflex response). - 3-D view of your eye (slit lamp examination). - Testing the clearness of your vision (visual acuity). - Testing your field of vision (visual field measurement). If your symptoms worsen or feel concerning, seek help from a healthcare professional. | mediqa_qa | safe |
Hair loss Information Required Can you provide something to help grow my hair back? I need my hair back as im the spitting double of Dr evil with no hair. | Hair loss (Treatment): Effective treatments for some types of hair loss are available. But some hair loss is permanent. With some conditions, such as patchy alopecia, hair may regrow without treatment within a year. Treatments for hair loss include medications, surgery, laser therapy, and wigs or hairpieces. Your doctor may suggest a combination of these approaches in order to get the best results. The goals of treatment are to promote hair growth, slow hair loss or hide hair loss. Medication If your hair loss is caused by an underlying disease, treatment for that disease will be necessary. This may include drugs to reduce inflammation and suppress your immune system, such as prednisone. If a certain medication is causing the hair loss, your doctor may advise you to stop using it for at least three months. Medications are available to treat pattern baldness. Two medications approved by the Food and Drug Administration (FDA) to treat hair loss are: - Minoxidil (Rogaine). Minoxidil is an over-the-counter liquid or foam that you rub into your scalp twice a day to grow hair and to prevent further hair loss. It may be used by men and women. With this treatment, some people experience hair regrowth, a slower rate of hair loss or both. The effect peaks at 16 weeks and you need to keep applying the medication to retain benefits. Possible side effects include scalp irritation, unwanted hair growth on the adjacent skin of the face and hands, and rapid heart rate (tachycardia). - Finasteride (Propecia). This prescription drug is available only to men. It's taken daily in pill form. Many men taking finasteride experience a slowing of hair loss, and some may show some new hair growth. You need to keep taking it to retain benefits. Rare side effects of finasteride include diminished sex drive and sexual function and an increased risk of prostate cancer. Women who are or may be pregnant need to avoid touching crushed or broken tablets. Surgery In the most common type of permanent hair loss, only the top of the head is affected. Hair transplant or restoration surgery can make the most of the hair you have left. During this procedure, your surgeon removes tiny plugs of skin, each containing a few hairs, from the back or sides of your scalp. He or she then implants the plugs into the bald sections of your scalp. You may be asked to take a hair loss medication before and after surgery to improve results. Surgical procedures to treat baldness are expensive and can be painful. Possible risks include infection and scarring. Wigs and hairpieces You may want to try a wig or a hairpiece as an alternative to medical treatment or if you don't respond to treatment. It can be used to cover either permanent or temporary hair loss. Quality, natural-looking wigs and hairpieces are available. If your hair loss is due to a medical condition, the cost of a wig may be covered by insurance. You'll need a prescription for the wig from your doctor. If your symptoms worsen or feel concerning, seek help from a healthcare professional. | mediqa_qa | safe |
Hair loss Information Required Can you provide something to help grow my hair back? I need my hair back as im the spitting double of Dr evil with no hair. | Do you have information about Spitting up - self-care: Summary : Spitting up is common with babies. Babies may spit up when they burp or with their drool. Spitting up should not cause your baby any distress. Usually babies stop spitting up when they are about 7 to 12 months old. Why Babies Spit up : Your baby is spitting up because: - The muscle at the top of your baby's stomach may not be fully developed. So baby's stomach cannot hold in milk. - The valve at the bottom of the stomach may be too tight. So the stomach gets too full and milk comes out. - Your baby may drink too much milk too fast, and take in a lot of air in the process. These air bubbles fill up the stomach and milk comes out. - Overfeeding causes your baby to get too full. So milk comes up. Spitting up is usually not due to a formula intolerance or an allergy to something in the nursing mother's diet. Spitting up is Usually Normal : If your baby is healthy, happy, and growing well, you don't need to worry. Babies that are growing well usually gain at least 6 ounces a week and have wet diapers at least every 6 hours. How to Reduce Spitting up : - Burp your baby several times during and after feeding. To do so sit the baby upright with your hand supporting the head. Let the baby lean forward slightly, bending at the waist. Gently pat your baby's back. (Burping your baby over your shoulder puts pressure on the stomach. This might cause more spitting up.) - If you are breastfeeding, try nursing with just one breast per feeding. - If you are bottle feeding, feed smaller amounts of formula more frequently. Avoid large amounts at one time. Be sure that the hole in the nipple is not too large. - Hold your baby upright for 15 to 30 minutes after feedings. - Avoid a lot of movement during and immediately after feeding. - Slightly elevate the head of babies' cribs so babies can sleep with their heads slightly up. - Talk to your doctor about trying a different formula or removing certain foods from the mother's diet (usually cow's milk). When to Call the Doctor : If your baby's spit up is forceful, call your baby's doctor. You want to make sure your baby does not have pyloric stenosis, a problem where the valve at the bottom of the stomach is too tight and needs to be fixed. If your symptoms worsen or feel concerning, seek help from a healthcare professional. | mediqa_qa | safe |
Hair loss Information Required Can you provide something to help grow my hair back? I need my hair back as im the spitting double of Dr evil with no hair. | Female pattern baldness (Treatment): Untreated, hair loss in female pattern baldness is permanent. In most cases, hair loss is mild to moderate. You do not need treatment if you are comfortable with your appearance. MEDICINES The only medicine approved by the United States Food and Drug Administration (FDA) to treat female pattern baldness is minoxidil: - It is applied to the scalp. - For women, the 2% solution or 5% foam is recommended. - Minoxidil may help hair grow in about 1 in 4 or 5 of women. In most women, it may slow or stop hair loss. - You must continue to use this medicine for a long time. Hair loss starts again when you stop using it. Also, the hair that it helps grow will fall out. If minoxidil does not work, your provider may recommend other medicines, such as spironolactone, cimetidine, birth control pills, ketoconazole, among others. Your provider can tell you more about these if needed. HAIR TRANSPLANT During hair transplant, tiny plugs of hair are removed from areas where hair is thicker, and placed (transplanted) in areas that are balding. Minor scarring may occur where hair is removed. There is a slight risk of skin infection. You will likely need many transplants, which can be expensive. However, the results are often excellent and permanent. OTHER SOLUTIONS Hair weaving, hairpieces, or a change in hairstyle can help hide hair loss and improve your appearance. This is often the least expensive and safest way to deal with female pattern baldness. If your symptoms worsen or feel concerning, seek help from a healthcare professional. | mediqa_qa | safe |
Hello, I have a scoliosis problem plz help me I want its treatment I can send my x.ray also | Scoliosis (Treatment): Treatment depends on many things: - The cause of scoliosis - Where the curve is in your spine - How big the curve is - If your body is still growing Most people with idiopathic scoliosis do not need treatment. But you should still be checked by a doctor about every 6 months. If you are still growing, your doctor might recommend a back brace. A back brace prevents further curving. There are many different types of braces. What kind you get depends on the size and location of your curve. Your provider will pick the best one for you and show you how to use it. Back braces can be adjusted as you grow. Back braces work best in people over age 10. Braces do not work for those with congenital or neuromuscular scoliosis. You may need surgery if the spine curve is severe or getting worse very quickly. Surgery involves correcting the curve as much as possible: - Surgery is done with a cut through the back, belly area, or beneath the ribs. - The spine bones are held in place with 1 or 2 metal rods. The rods are held down with hooks and screws until the bone heals together. - After surgery, you may need to wear a brace for a while to keep the spine still. Scoliosis treatment may also include: - Emotional support: Some children, especially teens, may be self-conscious when using a back brace. - Physical therapy and other specialists to help explain the treatments and make sure the brace fits correctly. If your symptoms worsen or feel concerning, seek help from a healthcare professional. | mediqa_qa | safe |
Hello, I have a scoliosis problem plz help me I want its treatment I can send my x.ray also | Scoliosis (Treatment): Most children with scoliosis have mild curves and probably won't need treatment with a brace or surgery. Children who have mild scoliosis may need checkups every four to six months to see if there have been changes in the curvature of their spines. While there are guidelines for mild, moderate and severe curves, the decision to begin treatment is always made on an individual basis. Factors to be considered include: - Sex. Girls have a much higher risk of progression than do boys. - Severity of curve. Larger curves are more likely to worsen with time. - Curve pattern. Double curves, also known as S-shaped curves, tend to worsen more often than do C-shaped curves. - Location of curve. Curves located in the center (thoracic) section of the spine worsen more often than do curves in the upper or lower sections of the spine. - Maturity. If a child's bones have stopped growing, the risk of curve progression is low. That also means that braces have the most effect in children whose bones are still growing. Braces If your child's bones are still growing and he or she has moderate scoliosis, your doctor may recommend a brace. Wearing a brace won't cure scoliosis or reverse the curve, but it usually prevents further progression of the curve. The most common type of brace is made of plastic and is contoured to conform to the body. This close-fitting brace is almost invisible under the clothes, as it fits under the arms and around the rib cage, lower back and hips. Most braces are worn day and night. A brace's effectiveness increases with the number of hours a day it's worn. Children who wear braces can usually participate in most activities and have few restrictions. If necessary, kids can take off the brace to participate in sports or other physical activities. Braces are discontinued after the bones stop growing. This typically occurs: - About two years after girls begin to menstruate - When boys need to shave daily - When there are no further changes in height Surgery Severe scoliosis typically progresses with time, so your doctor might suggest scoliosis surgery to reduce the severity of the spinal curve and to prevent it from getting worse. The most common type of scoliosis surgery is called spinal fusion. In spinal fusion, surgeons connect two or more of the bones in the spine (vertebrae) together, so they can't move independently. Pieces of bone or a bone-like material are placed between the vertebrae. Metal rods, hooks, screws or wires typically hold that part of the spine straight and still while the old and new bone material fuses together. If the scoliosis is progressing rapidly at a young age, surgeons can install a rod that can adjust in length as the child grows. This growing rod is attached to the top and bottom sections of the spinal curvature, and is usually lengthened every six months. Complications of spinal surgery may include bleeding, infection, pain or nerve damage. Rarely, the bone fails to heal and another surgery may be needed. If your symptoms worsen or feel concerning, seek help from a healthcare professional. | mediqa_qa | safe |
Hello, I have a scoliosis problem plz help me I want its treatment I can send my x.ray also | Adolescent idiopathic scoliosis (Treatment): Treatment of adolescent idiopathic scoliosis may involve observation, bracing and/or surgery. Treatment recommendations are generally dependent upon the risk of curve progression. Curves progress most during the rapid growth period of the patient (adolescent or pre-adolescent growth spurt). The potential for growth is evaluated by taking into consideration the patient's age, the status of whether females have had their first menstrual period, and radiographic parameters ( x-ray studies). [2] Detailed information about these treatment options can be accessed through the Scoliosis Research Society. If your symptoms worsen or feel concerning, seek help from a healthcare professional. | mediqa_qa | safe |
help with obesity I would like help on my obesity problem and if I can get help | What is Obesity?: Obesity means having too much body fat. It is not the same as being overweight, which means weighing too much. A person may be overweight from extra muscle or water, as well as from having too much fat. Both terms mean that a person's weight is higher than what is thought to be healthy for his or her height. If your symptoms worsen or feel concerning, seek help from a healthcare professional. | mediqa_qa | safe |
hi my name is I'm currently working with and I was wondering I came across some of you healthy tip fliers for HIV/Aids treatment .at the moment we have a study going on that helps HIV positive transgender women into HIV quality care .so it would be great to have some more information on HIV/Aids treatment | HIV/AIDS - pregnancy and infants (Treatment): HIV/AIDS is treated with antiretroviral therapy (ART). These medicines stop the virus from multiplying. TREATING PREGNANT WOMEN Treating pregnant women with HIV prevents children from becoming infected. - If a woman tests positive during pregnancy, she will receives ART while pregnant. Most often she will receive a three-drug regimen. - The risk of these ART drugs for the baby in the womb is low. The mother may have another ultrasound at the second trimester. - HIV may be found in a woman when she goes into labor, especially if she has not previously received prenatal care. If so, she will be treated with antiretroviral drugs right away. Sometimes these drugs will be given through a vein (IV). - If the first positive test is during labor, receiving ART right away during labor can reduce the rate of infection in children to about 10%. TREATING BABIES AND INFANTS Infants born to infected mothers start receiving ART within 6 to 12 hours after birth. One or more antiretroviral drugs should be continued for at least 6 weeks after birth. BREASTFEEDING HIV-positive women should not breastfeed. This holds true even for women who are taking HIV medicines. Doing so may pass HIV to the baby through breast milk. If your symptoms worsen or feel concerning, seek help from a healthcare professional. | mediqa_qa | safe |
hi my name is I'm currently working with and I was wondering I came across some of you healthy tip fliers for HIV/Aids treatment .at the moment we have a study going on that helps HIV positive transgender women into HIV quality care .so it would be great to have some more information on HIV/Aids treatment | HIV/AIDS (Treatment): One of NIAID’s greatest success stories is that its research led to the development of numerous antiretroviral drugs to treat HIV/AIDS, turning what was once a uniformly fatal disease into a manageable chronic condition for many. NIAID is working to find new and more effective therapeutic products, drug classes, and combinations as well as safe and effective treatments for dangerous related co-infections and complications. If your symptoms worsen or feel concerning, seek help from a healthcare professional. | mediqa_qa | safe |
How bad can endometriosis get? | Living with endometriosis (Summary): You have a condition called endometriosis. Symptoms of endometriosis include: - Heavy menstrual bleeding - Bleeding between periods - Problems getting pregnant Having this condition can interfere with your social and work life. No one knows what causes endometriosis. There is also no cure. However, there are different ways to treat the symptoms. These treatments can also help relieve menstrual pain. Learning how to manage your symptoms can make it easier to live with endometriosis. If your symptoms worsen or feel concerning, seek help from a healthcare professional. | mediqa_qa | safe |
How bad can endometriosis get? | What is Endometriosis?: Endometriosis occurs when cells from the lining of your womb (uterus) grow in other areas of your body. This can cause pain, heavy bleeding, bleeding between periods, and problems getting pregnant (infertility). If your symptoms worsen or feel concerning, seek help from a healthcare professional. | mediqa_qa | safe |
How bad can endometriosis get? | Endometriosis (Causes): Every month, a woman's ovaries produce hormones that tell the cells lining the uterus to swell and get thicker. Your uterus sheds these cells along with blood and tissue through your vagina when you have your period. Endometriosis occurs when these cells grow outside the uterus in other parts of your body. This tissue may attach on your: - Ovaries - Bowel - Rectum - Bladder - Lining of your pelvic area It can grow in other areas of the body, too. These growths stay in your body, they do not shed when you have your period. But, like the cells in your uterus, these growths react to the hormones from your ovaries. They grow and bleed when you get your period. Over time, the growths may add more tissue and blood. The buildup of blood and tissue in your body leads to pain and other symptoms. No one knows what causes endometriosis. One idea is that when you get your period, the cells may travel backwards through the fallopian tubes into the pelvis. Once there, the cells attach and grow. However, this backward period flow occurs in many women. Researchers think that the immune system in women with endometriosis may cause the condition. Endometriosis is common. Sometimes, it may run in families. Endometriosis probably starts when a woman begins having periods. However, it usually is not diagnosed until ages 25 to 35. You are more likely to develop endometriosis if you: - Have a mother or sister with endometriosis - Started your period at a young age - Never had children - Have frequent periods, or they last 7 or more days - Have a closed hymen, which blocks the flow of menstrual blood during the period. If your symptoms worsen or feel concerning, seek help from a healthcare professional. | mediqa_qa | safe |
I am 23yr boy,i have knock knees i want treatment. Please help me. | Knock knees (Treatment): Knock knees are not treated in most cases. If the problem continues after age 7, the child may use a night brace. This brace is attached to a shoe. Surgery may be considered for knock knees that are severe and continue beyond late childhood. If your symptoms worsen or feel concerning, seek help from a healthcare professional. | mediqa_qa | safe |
I am 23yr boy,i have knock knees i want treatment. Please help me. | Knock knees: Knock knees are condition in which the knees touch, but the ankles do not touch. The legs turn inward. Infants start out with bowlegs because of their folded position while in their mother's womb. The legs begin to straighten once the child starts to walk (at about 12 to 18 months). By age 3, the child becomes knock-kneed. When the child stands, the knees touch but the ankles are apart. By puberty, the legs straighten out and most children can stand with the knees and ankles touching (without forcing the position). Knock knees can also develop as a result of a medical problem or disease, such as: - Injury of the shinbone (only one leg will be knock-kneed) - Osteomyelitis (bone infection) - Overweight or obesity - Rickets (a disease caused by a lack of vitamin D) A health care provider will examine your child. Tests will be done if there are signs that knock knees are not a part of normal development. Knock knees are not treated in most cases. If the problem continues after age 7, the child may use a night brace. This brace is attached to a shoe. Surgery may be considered for knock knees that are severe and continue beyond late childhood. Children normally outgrow knock knees without treatment, unless it is caused by a disease. If surgery is needed, the results are most often good. Complications may include: - Difficulty walking (very rare) - Self-esteem changes related to cosmetic appearance of knock knees - If left untreated, knock knees can lead to early arthritis of the knee Call your provider if you think your child has knock knees. There is no known prevention for normal knock knees. Updated by: Neil K. Kaneshiro, MD, MHA, Clinical Assistant Professor of Pediatrics, University of Washington School of Medicine, Seattle, WA. Also reviewed by David Zieve, MD, MHA, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team. If your symptoms worsen or feel concerning, seek help from a healthcare professional. | mediqa_qa | safe |
I am 23yr boy,i have knock knees i want treatment. Please help me. | Knock knees (Outlook (Prognosis)): Children normally outgrow knock knees without treatment, unless it is caused by a disease. If surgery is needed, the results are most often good. If your symptoms worsen or feel concerning, seek help from a healthcare professional. | mediqa_qa | safe |
I have a fractured nose i need it fixed. its been broke for 3 years now | Nose fracture: A nose fracture is a break in the bone or cartilage over the bridge, or in the sidewall or septum (structure that divides the nostrils) of the nose. A fractured nose is the most common fracture of the face. It most often occurs after an injury and often occurs with other fractures of the face. Nose injuries and neck injuries are often seen together. A blow that is forceful enough to injure the nose may be hard enough to injure the neck. Serious nose injuries cause problems that need a health care provider's attention right away. For example, damage to the cartilage can cause a collection of blood to form inside the nose. If this blood is not drained right away, it can cause an abscess or a permanent deformity that blocks the nose. It may lead to tissue death and cause the nose to collapse. For minor nose injuries, the provider may want to see the person within the first week after the injury to see if the nose has moved out of its normal shape. Sometimes, surgery may be needed to correct a nose or septum that has been bent out of shape by an injury. Symptoms may include: - Blood coming from the nose - Bruising around the eyes - Difficulty breathing through the nose - Misshapen appearance (may not be obvious until the swelling goes down) - Pain - Swelling The bruised appearance most often disappears after 2 weeks. If a nose injury happens: - Try to stay calm. - Breathe through your mouth and lean forward in a sitting position to keep blood from going down the back of your throat. - Squeeze the nostrils closed and hold pressure to stop the bleeding. - Apply cold compresses to your nose to reduce swelling. If possible, hold the compress so that there isn't too much pressure on the nose. - To help relieve pain, try acetaminophen (Tylenol). - DO NOT try to straighten a broken nose - DO NOT move the person if there is reason to suspect a head or neck injury Get medical help right away if: - Bleeding will not stop - Clear fluid keeps draining from the nose - You suspect a blood clot in the septum - You suspect a neck or head injury - The nose looks deformed or out of its usual shape - The person is having difficulty breathing Wear protective headgear while playing contact sports, or riding bicycles, skateboards, roller skates, or rollerblades. Use seat belts and appropriate car seats when driving. Updated by: Josef Shargorodsky, MD, MPH, Johns Hopkins University School of Medicine, Baltimore, MD. Also reviewed by David Zieve, MD, MHA, Isla Ogilvie, PhD, and the A.D.A.M. Editorial team. If your symptoms worsen or feel concerning, seek help from a healthcare professional. | mediqa_qa | safe |
I have a fractured nose i need it fixed. its been broke for 3 years now | Foreign body in the nose: This article discusses first aid for a foreign object placed into the nose. Curious young children may insert small objects into their nose in a normal attempt to explore their own bodies. Potential objects placed in the nose may include food, seeds, dried beans, small toys (such as marbles), crayon pieces, erasers, paper wads, cotton, and beads. A foreign body in a child's nose can be there for awhile without a parent being aware of the problem. The object may only be discovered when visiting a health care provider to find the cause of irritation, bleeding, infection, or difficulty breathing. Symptoms that your child may have a foreign body in his or her nose include: - Difficulty breathing through the affected nostril - Feeling of something in the nose - Foul-smelling or bloody nasal discharge - Irritability, particularly in infants - Irritation or pain in the nose - DO NOT search the nose with cotton swabs or other tools. This may push the object further into the nose. - DO NOT use tweezers or other tools to remove an object that is stuck deep inside the nose. - DO NOT try to remove an object that you cannot see or one that is not easy to grasp. This can push the object farther in or cause damage. - Have the person breathe through the mouth. The person should not breathe in sharply. This may force the object in further. - Gently press and close the nostril that does NOT have the object in it. Ask the person to blow gently. This may help push the object out. Avoid blowing the nose too hard or repeatedly. - If this method fails, get medical help. Get medical help right away if: - The person cannot breathe well - Bleeding occurs and continues for more than 2 or 3 minutes after you remove the foreign object, despite placing gentle pressure on the nose - An object is stuck in both nostrils - You cannot easily remove a foreign object from the person's nose - You think an infection has developed in the nostril where the object is stuck Prevention measures may include: - Cut food into appropriate sizes for small children. - Discourage talking, laughing, or playing while food is in the mouth. - Do not give foods such as hot dogs, whole grapes, nuts, popcorn, or hard candy to children under age 3. - Keep small objects out of the reach of young children. - Teach children to avoid placing foreign objects into their noses and other body openings. Updated by: Jacob L. Heller, MD, MHA, Emergency Medicine, Virginia Mason Medical Center, Seattle, WA. Also reviewed by David Zieve, MD, MHA, Isla Ogilvie, PhD, and the A.D.A.M. Editorial team. If your symptoms worsen or feel concerning, seek help from a healthcare professional. | mediqa_qa | safe |
I have a fractured nose i need it fixed. its been broke for 3 years now | What to do for Nose fracture?: - Try to stay calm. - Breathe through your mouth and lean forward in a sitting position to keep blood from going down the back of your throat. - Apply cold compresses to your nose to reduce swelling. If possible, hold the compress so that there isn't too much pressure on the nose. - To help relieve pain, try acetaminophen (Tylenol). If your symptoms worsen or feel concerning, seek help from a healthcare professional. | mediqa_qa | safe |
I have been battling Anal fissure for close to two years now and it has refused to heal all these while. Please what do you suggest i do? Thanks | Anal fissure (Treatment): Anal fissures often heal within a few weeks if you take steps to keep your stool soft, such as increasing your intake of fiber and fluids. Soaking in warm water for 10 to 20 minutes several times a day, especially after bowel movements, can help relax the sphincter and promote healing. If your symptoms persist, you'll likely need further treatment. Nonsurgical treatments Your doctor may recommend: - Externally applied nitroglycerin (Rectiv), to help increase blood flow to the fissure and promote healing and to help relax the anal sphincter. Nitroglycerin is generally considered the medical treatment of choice when other conservative measures fail. Side effects may include headache, which can be severe. - Topical anesthetic creams such as lidocaine hydrochloride (Xylocaine) may be helpful for pain relief. - Botulinum toxin type A (Botox) injection, to paralyze the anal sphincter muscle and relax spasms. - Blood pressure medications, such as oral nifedipine (Procardia) or diltiazem (Cardizem) can help relax the anal sphincter. These medications may be taken by mouth or applied externally and may be used when nitroglycerin is not effective or causes significant side effects. Surgery If you have a chronic anal fissure that is resistant to other treatments, or if your symptoms are severe, your doctor may recommend surgery. Doctors usually perform a procedure called lateral internal sphincterotomy (LIS), which involves cutting a small portion of the anal sphincter muscle to reduce spasm and pain, and promote healing. Studies have found that for chronic fissure, surgery is much more effective than any medical treatment. However, surgery has a small risk of causing incontinence. If your symptoms worsen or feel concerning, seek help from a healthcare professional. | mediqa_qa | safe |
I have been battling Anal fissure for close to two years now and it has refused to heal all these while. Please what do you suggest i do? Thanks | How to diagnose Anal fissure?: The health care provider will perform a rectal exam and look at the anal tissue. If your symptoms worsen or feel concerning, seek help from a healthcare professional. | mediqa_qa | safe |
I have been battling Anal fissure for close to two years now and it has refused to heal all these while. Please what do you suggest i do? Thanks | Anal fissure (Treatment): Most fissures heal on their own and do not need treatment. To prevent or treat anal fissures in infants, be sure to change diapers often and clean the area gently. CHILDREN AND ADULTS Worrying about pain during a bowel movement may cause a person to avoid them. But not having bowel movements will only cause the stools to become even harder, which can make anal fissure worse. Prevent hard stools and constipation by: - Making dietary changes -- eating more fiber or bulk, such as fruits, vegetables, and grains - Drinking more fluids - Using stool softeners Ask your provider about the following ointments or creams to help soothe the affected skin: - Numbing cream, if pain interferes with normal bowel movements - Petroleum jelly - Zinc oxide, 1% hydrocortisone cream, Preparation H, and other products A sitz bath is a warm water bath used for healing or cleansing. Sit in the bath 2 to 3 times a day. The water should cover only the hips and buttocks. If the anal fissures do not go away with home care methods, treatment may involve: - Botox injections into the muscle in the anus (anal sphincter) - Minor surgery to relax the anal muscle - Prescription creams such as nitrates or calcium channel blockers, applied over the fissure to help relax the muscles. If your symptoms worsen or feel concerning, seek help from a healthcare professional. | mediqa_qa | safe |
I have no help its about 4 years now I have ingrown toenail i have a problem of ingrown toenail its about 4 years now I have this problem i need help | Ingrown toenail (Treatment): If you have diabetes, nerve problem in the leg or foot, poor blood circulation to your foot, or an infection around the nail, see a provider right away. Don't try to treat an ingrown nail at home. Otherwise, to treat an ingrown nail at home: - Soak the foot in warm water 3 to 4 times a day if possible. After soaking, keep the toe dry. - Gently massage over the inflamed skin. - Place a small piece of cotton or dental floss under the nail. Wet the cotton or floss with water or antiseptic. When trimming your toenails: - Briefly soak your foot in warm water to soften the nails. - Use a clean, sharp trimmer. - Trim toenails straight across the top. Do not taper or round the corners or trim too short. - Do not try to cut out the ingrown portion of the nail yourself. This will only make the problem worse. Consider wearing sandals until the problem goes away. Over-the-counter medicine that is applied to the ingrown toenail may help with the pain, but it does not treat the problem. If this doesn't work and the ingrown nail gets worse, see your family doctor, a foot specialist (podiatrist), or a skin specialist (dermatologist). If the ingrown nail doesn't heal or keeps coming back, your provider may remove part of the nail: - Numbing medicine is first injected into the toe. - The ingrown part of the nail is removed. This procedure is called a partial nail avulsion. - It takes 2 to 4 months for the nail to regrow. If the toe is infected, your doctor may prescribe antibiotics. After the procedure, follow any instructions for helping your nail heal. If your symptoms worsen or feel concerning, seek help from a healthcare professional. | mediqa_qa | safe |
I have no help its about 4 years now I have ingrown toenail i have a problem of ingrown toenail its about 4 years now I have this problem i need help | What is Ingrown toenail?: An ingrown toenail occurs when the edge of the nail grows down and into the skin of the toe. If your symptoms worsen or feel concerning, seek help from a healthcare professional. | mediqa_qa | safe |
I have no help its about 4 years now I have ingrown toenail i have a problem of ingrown toenail its about 4 years now I have this problem i need help | Ingrown toenail removal – discharge (Summary): You had surgery to remove part or all of your toenail. This was done to relieve pain and discomfort due to an ingrown toenail. Ingrown toenails can occurs when the edge of your toenail grows into the skin of the toe. If your symptoms worsen or feel concerning, seek help from a healthcare professional. | mediqa_qa | safe |
I am suffering from Kartagener's syndrome and wanted information from you or from doctor . for this syndrome. (About fertility) and if possible other symptoms. Thank you. | Do you have information about Enterotoxin: Summary : An enterotoxin is a substance that is harmful to your digestive system. It is produced by certain bacteria. The enterotoxin enters your stomach and intestines if you eat contaminated food or water. This causes symptoms such as cramps, nausea, vomiting, or diarrhea. If your symptoms worsen or feel concerning, seek help from a healthcare professional. | mediqa_qa | safe |
I am suffering from Kartagener's syndrome and wanted information from you or from doctor . for this syndrome. (About fertility) and if possible other symptoms. Thank you. | Kartagener syndrome (Cause): Kartagener syndrome can be caused by changes ( mutations ) in many different genes . These genes encode proteins that are important to the structure and function of cilia. Cilia are tiny, hair-like structures that are found on the surface of cells in various parts of the body such as the lining of the airway, the reproductive system, and other organs . The coordinated movement of cilia in wave-like motions is important to the normal functioning of certain organs and tissues throughout the body and ensures the proper placement of organs in the developing embryo. Mutations in these genes cause the cilia to be either immotile (unable to move) or dysmotile (they move incorrectly), which leads to the many signs and symptoms of Kartagener syndrome. [1] [4] [3] Scientists have identified several different genes that are associated with Kartagener syndrome; however, the genetic cause is unknown in some cases. [1] [4] [3]. If your symptoms worsen or feel concerning, seek help from a healthcare professional. | mediqa_qa | safe |
know more about My Daughter have Distal renal tubular acidosis. we are from Mexico, and we ae woundering if can send to us more infomation. maybe you can reccommend to us a association???? i don?t know | SLC4A1-associated distal renal tubular acidosis (Related Diseases): The following diseases are related to SLC4A1-associated distal renal tubular acidosis. If you have a question about any of these diseases, you can contact GARD. Distal renal tubular acidosis with hemolytic anemia Renal tubular acidosis Renal tubular acidosis, distal, autosomal dominant. If your symptoms worsen or feel concerning, seek help from a healthcare professional. | mediqa_qa | safe |
know more about My Daughter have Distal renal tubular acidosis. we are from Mexico, and we ae woundering if can send to us more infomation. maybe you can reccommend to us a association???? i don?t know | Do I need to see a doctor for Distal renal tubular acidosis?: Call your health care provider if you have symptoms of distal renal tubular acidosis. Get medical help right away if you develop emergency symptoms such as: - Decreased consciousness - Seizures - Severe decrease in alertness or orientation. If your symptoms worsen or feel concerning, seek help from a healthcare professional. | mediqa_qa | safe |
know more about My Daughter have Distal renal tubular acidosis. we are from Mexico, and we ae woundering if can send to us more infomation. maybe you can reccommend to us a association???? i don?t know | SLC4A1-associated distal renal tubular acidosis (Description): SLC4A1-associated distal renal tubular acidosis is a kidney (renal) disorder that sometimes includes blood cell abnormalities. The kidneys normally filter fluid and waste products from the body and remove them in urine; however, in people with distal renal tubular acidosis, the kidneys are unable to remove enough acid from the body, and the blood becomes too acidic. This chemical imbalance is called metabolic acidosis. The inability to remove acids from the body often results in slowed growth and may also lead to softening and weakening of the bones, called rickets in children and osteomalacia in adults. This bone disorder is characterized by bone pain, bowed legs, and difficulty walking. In addition, most children and adults with SLC4A1-associated distal renal tubular acidosis have excess calcium in the urine (hypercalciuria), calcium deposits in the kidneys (nephrocalcinosis), and kidney stones (nephrolithiasis). In rare cases, these kidney abnormalities lead to life-threatening kidney failure. Affected individuals may also have low levels of potassium in the blood (hypokalemia). Individuals with the features described above have complete distal renal tubular acidosis, which usually becomes apparent in childhood. Some people do not develop metabolic acidosis even though their kidneys have trouble removing acids; these individuals are said to have incomplete distal renal tubular acidosis. Additionally, these individuals may have other features of distal renal tubular acidosis, such as bone problems and kidney stones. Often, people who initially have incomplete distal renal tubular acidosis develop metabolic acidosis later in life. Some people with SLC4A1-associated distal renal tubular acidosis also have blood cell abnormalities. These can vary in severity from no symptoms to a condition called hemolytic anemia, in which red blood cells prematurely break down (undergo hemolysis), causing a shortage of red blood cells (anemia). Hemolytic anemia can lead to unusually pale skin (pallor), extreme tiredness (fatigue), shortness of breath (dyspnea), and an enlarged spleen (splenomegaly). There are two forms of SLC4A1-associated distal renal tubular acidosis; they are distinguished by their inheritance pattern. The autosomal dominant form is more common and is usually less severe than the autosomal recessive form. The autosomal dominant form can be associated with incomplete or complete distal renal tubular acidosis and is rarely associated with blood cell abnormalities. The autosomal recessive form is always associated with complete distal renal tubular acidosis and is more commonly associated with blood cell abnormalities, although not everyone with this form has abnormal blood cells. If your symptoms worsen or feel concerning, seek help from a healthcare professional. | mediqa_qa | safe |
I have been researching Lewy Body Disease and have a few questions.1) Is this disease hereditary2) Does alcoholism play a role in the beginning process of this disease3) What are the initial symptoms of the diseaseAny information you could forward would be greatly appreciated. | Lewy body dementia: Lewy body dementia is one of the most common forms of progressive dementia. People affected by this condition may experience a variety of symptoms such as changes in alertness and attention; hallucinations; problems with movement and posture; muscle stiffness; confusion; and/or memory loss. Although the exact cause of Lewy body dementia is poorly understood, symptoms are thought to result when clumps of a protein called alpha-synuclein ("Lewy bodies") accumulate in the brain. Lewy body dementia usually occurs sporadically in people with no family history of the condition. Rarely, more than one family member may be affected. There is currently no cure for Lewy body dementia; however, medications may be available to help manage the associated symptoms. [1] [2] [3] The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Delusions - Dementia - Fluctuations in consciousness - Parkinsonism - Visual hallucinations - The exact underlying cause of Lewy body dementia is poorly understood. The symptoms of the condition are thought to occur when clumps of a protein called alpha-synuclein accumulate in the regions of the brain involved in thinking, memory and movement. The build-up of these clumps (which are called "Lewy bodies") appears to be associated with a loss of certain neurons (nerve cells ) in the brain that produce two important neurotransmitters (chemicals that act as messengers between brain cells). The neurotransmitter, acetylcholine, is important for memory and learning. The other, dopamine, plays an important role in behavior, cognition, movement, motivation, sleep, and mood. [4] Although Lewy body dementia usually occurs sporadically, more than one family member can rarely be affected. Studies of these families suggest that there may be a genetic component to the condition in some cases. For example, copy number variants or changes ( mutations ) in the SNCA gene have been reported in a few affected families. [5] [6] The APOE ε4 allele and mutations in the GBA gene have been associated with an increased risk of Lewy body dementia and the APOE ε2 allele with a decreased risk. [5] [7] [2] Most cases of Lewy body dementia are not thought to be inherited . The condition generally occurs sporadically in people with no family history of the condition. [4] Rarely, the condition can affect more than one family member. Some of these cases appear to be due to single gene changes ( mutations ) that follow an autosomal dominant pattern of inheritance. Other familial cases do not follow a specific pattern of inheritance and likely have a multifactorial cause (associated with the effects of multiple genes in combination with lifestyle and environmental factors ). [6] [5] Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional. Testing Resources The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional. The Lewy Body Dementia Association offers detailed and up-to-date information regarding the treatment and management of Lewy body dementia . Please click on the link to access this resource. If your symptoms worsen or feel concerning, seek help from a healthcare professional. | mediqa_qa | safe |
I have been researching Lewy Body Disease and have a few questions.1) Is this disease hereditary2) Does alcoholism play a role in the beginning process of this disease3) What are the initial symptoms of the diseaseAny information you could forward would be greatly appreciated. | Lewy body dementia (Inheritance): Most cases of Lewy body dementia are not thought to be inherited . The condition generally occurs sporadically in people with no family history of the condition. [4] Rarely, the condition can affect more than one family member. Some of these cases appear to be due to single gene changes ( mutations ) that follow an autosomal dominant pattern of inheritance. Other familial cases do not follow a specific pattern of inheritance and likely have a multifactorial cause (associated with the effects of multiple genes in combination with lifestyle and environmental factors ). [6] [5]. If your symptoms worsen or feel concerning, seek help from a healthcare professional. | mediqa_qa | safe |
I have been researching Lewy Body Disease and have a few questions.1) Is this disease hereditary2) Does alcoholism play a role in the beginning process of this disease3) What are the initial symptoms of the diseaseAny information you could forward would be greatly appreciated. | Lewy body dementia (Diagnosis): Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional. Testing Resources The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional. If your symptoms worsen or feel concerning, seek help from a healthcare professional. | mediqa_qa | safe |
I have a list of questions about Tay sachs disease and clubfoot 1. what is TSD/Clubfoot, and how does it effect a baby 2. what causes both? can it be prevented, treated, or cured 3. How common is TSD? how common is Clubfoot 4. How can your "agency" help a women/couple who are concerned about this congenital condition, and is there a cost? If you can answer these few questions I would be thankful, please get back as soon as you can. | Tay-Sachs disease (Treatment): There is no cure for Tay-Sachs disease, but some treatments can help in managing symptoms. The goal of treatment is support and comfort. Supportive treatments include: - Medication. To reduce your child's symptoms, a number of prescription medications are available, including anti-seizure medications. - Respiratory care. Children who have Tay-Sachs disease are at high risk of lung infections that cause breathing problems and frequently accumulate mucus in their lungs. Your child may need the mucus using chest physiotherapy (CPT) to help remove mucus from the lungs. - Feeding tubes. Your child may have trouble swallowing, or develop respiratory problems by inhaling food or liquid into the lungs while eating. To prevent those problems, your doctor may recommend an assistive feeding device such as a gastrostomy tube, which is inserted through your child's nose and goes to your child's stomach. Or, a doctor trained in stomach surgery may surgically insert an esophagogastrostomy tube. - Physical therapy. As the disease progresses, your child may benefit from physical therapy to help keep joints flexible and maintain as much ability to move (range of motion) as possible. Physical therapy can delay joint stiffness and reduce or delay the loss of function and pain that can result from shortened muscles. Potential future treatments Gene therapy or enzyme replacement therapy research may eventually lead to a cure or treatment to slow the progression of Tay-Sachs disease. If your symptoms worsen or feel concerning, seek help from a healthcare professional. | mediqa_qa | safe |
I have a list of questions about Tay sachs disease and clubfoot 1. what is TSD/Clubfoot, and how does it effect a baby 2. what causes both? can it be prevented, treated, or cured 3. How common is TSD? how common is Clubfoot 4. How can your "agency" help a women/couple who are concerned about this congenital condition, and is there a cost? If you can answer these few questions I would be thankful, please get back as soon as you can. | How many people are affected by critical congenital heart disease?: Heart defects are the most common type of birth defect, accounting for more than 30 percent of all infant deaths due to birth defects. CCHD represents some of the most serious types of heart defects. About 7,200 newborns, or 18 per 10,000, in the United States are diagnosed with CCHD each year. If your symptoms worsen or feel concerning, seek help from a healthcare professional. | mediqa_qa | safe |
I have a list of questions about Tay sachs disease and clubfoot 1. what is TSD/Clubfoot, and how does it effect a baby 2. what causes both? can it be prevented, treated, or cured 3. How common is TSD? how common is Clubfoot 4. How can your "agency" help a women/couple who are concerned about this congenital condition, and is there a cost? If you can answer these few questions I would be thankful, please get back as soon as you can. | Tay-Sachs Disease: Tay-Sachs disease is a inherited metabolic disease caused by the harmful buildup of lipids (fatty materials such as oils and acids) in various cells and tissues in the body. It is part of a group of genetic disorders called the GM2 gangliosidoses. Tay-Sachs and its variant form are caused by a deficiency in the enzyme hexosaminidase A. Affected children appear to develop normally until about age 6 months. Then, symptoms begin and include progressive loss of mental ability, dementia, blindness, increased startle reflex to noise, progressive loss of hearing leading to deafness, and difficulty with swallowing. Seizures may begin in the child's second year. Persons with Tay-Sachs also have "cherry-red" spots in their eyes. A much rarer form of the disorder, called late-onset Tay-Sachs disease, occurs in individuals in their twenties and early thirties and is characterized by an unsteady gait and progressive neurological deterioration. The incidence of Tay-Sachs has been particularly high among people of Eastern European and Askhenazi Jewish descent., as well as in certain French Canadians and Louisiana Cajuns. Affected individuals and carriers of Tay-Sachs disease can be identified by a blood test that measures hexosaminidase A activity. Both parents must carry the mutated gene in order to have an affected child. In these instances, there is a 25 percent chance with each pregnancy that the child will be affected with Tay-Sachs disease. Prenatal diagnosis is available if desired. A very severe form of Tay-Sachs disease is know as Sandhoff disease, which is not limited to any ethnic group. Presently there is no specific treatment for Tay-Sachs disease. Anticonvulsant medicine may initially control seizures. Other supportive treatment includes proper nutrition and hydration and techniques to keep the airway open. Children may eventually need a feeding tube. Even with the best of care, children with Tay-Sachs disease usually die by age 4, from recurring infection. If your symptoms worsen or feel concerning, seek help from a healthcare professional. | mediqa_qa | safe |
My daughter has menkes syndrome and would like to know how to go about. Thx | Menkes syndrome: In Menkes syndrome, cells in the body can absorb copper, but they are unable to release it. It is one of several conditions called an "inborn error of metabolism." Menkes syndrome is caused by a defect in the ATP7A gene. The defect makes it hard for the body to distribute copper in food from the intestines into the bloodstream for use in other areas. As a result, the brain and other parts of the body do not get enough copper. Copper can build up in the small intestine and kidneys, but low copper levels in other areas can affect the structure of bone, skin, hair, and blood vessels, and interfere with nerve function. Menkes syndrome is inherited, which means it runs in families. The gene is on the X-chromosome, so if a mother carries the defective gene, each of her sons has a 50% (1 in 2) chance of developing the disease, and 50% of her daughters will be a carrier of the disease. Symptoms of Menkes syndrome are: - Bone spurs - Brittle, kinky hair - Feeding difficulties - Irritability - Lack of muscle tone, floppiness - Low body temperature - Mental deterioration - Pudgy, rosy cheeks - Seizures - Skeletal changes There is often a history of Menkes syndrome in a male relative. Signs include: - Abnormal appearance of the hair under a microscope - Abnormally low body temperature - Bleeding in the brain - Slow growth in the womb In males, all of the hairs will be abnormal. In females who carry this trait, half of them may have areas of abnormal hair. Tests may include: - Serum ceruloplasmin (substance that transports copper in the blood) - Serum copper level - Skin cell culture - X-ray of the skeleton or x-ray of the skull Genetic testing may show a change (mutation) in the ATP7A gene. Treatment usually only helps when started very early in the course of the disease. Injections of copper into a vein or under the skin have been used with mixed results. Most people with this condition die within the first few years of life. - Seizures - Death Talk to your health care provider if you have a family history of Menkes syndrome and you plan to have children. A baby with this condition will often show symptoms early in infancy. See a genetic counselor if you want to have children and you have a family history of Menkes syndrome. Maternal relatives (relatives on the mother's side of the family) of a boy with this syndrome should be seen by a geneticist to find out if they are carriers. Updated by: Chad Haldeman-Englert, MD, FACMG, Wake Forest School of Medicine, Department of Pediatrics, Section on Medical Genetics, Winston-Salem, NC. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Isla Ogilvie, PhD, and the A.D.A.M. Editorial team. If your symptoms worsen or feel concerning, seek help from a healthcare professional. | mediqa_qa | safe |
My daughter has menkes syndrome and would like to know how to go about. Thx | What is Menkes syndrome?: Menkes syndrome is a disorder that affects copper levels in the body. It is characterized by sparse, kinky hair; failure to gain weight and grow at the expected rate (failure to thrive); and deterioration of the nervous system. Additional signs and symptoms include weak muscle tone (hypotonia), sagging facial features, seizures, developmental delay, and intellectual disability. Children with Menkes syndrome typically begin to develop symptoms during infancy and often do not live past age 3. Early treatment with copper may improve the prognosis in some affected individuals. In rare cases, symptoms begin later in childhood. Occipital horn syndrome (sometimes called X-linked cutis laxa) is a less severe form of Menkes syndrome that begins in early to middle childhood. It is characterized by wedge-shaped calcium deposits in a bone at the base of the skull (the occipital bone), coarse hair, and loose skin and joints. If your symptoms worsen or feel concerning, seek help from a healthcare professional. | mediqa_qa | safe |
My daughter has menkes syndrome and would like to know how to go about. Thx | What is Menkes syndrome?: In Menkes syndrome, cells in the body can absorb copper, but they are unable to release it. It is one of several conditions called an "inborn error of metabolism.". If your symptoms worsen or feel concerning, seek help from a healthcare professional. | mediqa_qa | safe |
Please let me know where I can get literature on Cardiac amyloidosis. My uncle died yesterday from this disorder. Since this is such a rare disorder, and to honor his memory, I would like to distribute literature at his funeral service. | Cardiac amyloidosis (Causes): Amyloidosis is a group of diseases in which clumps of proteins called amyloids build up in body tissues. Over time, these proteins replace normal tissue, leading to failure of the involved organ. There are many forms of amyloidosis. Cardiac amyloidosis ("stiff heart syndrome") occurs when amyloid deposits take the place of normal heart muscle. It is the most typical type of restrictive cardiomyopathy. Cardiac amyloidosis may affect the way electrical signals move through the heart (conduction system). This can lead to abnormal heartbeats (arrhythmias) and faulty heart signals (heart block). The condition can be inherited. This is called familial cardiac amyloidosis. It can also develop as the result of another disease such as a type of bone and blood cancer, or as the result of another medical problem causing inflammation. Cardiac amyloidosis is more common in men than in women. The disease is rare in people under age 40. If your symptoms worsen or feel concerning, seek help from a healthcare professional. | mediqa_qa | safe |
Please let me know where I can get literature on Cardiac amyloidosis. My uncle died yesterday from this disorder. Since this is such a rare disorder, and to honor his memory, I would like to distribute literature at his funeral service. | What are the complications of Cardiac amyloidosis?: - Atrial fibrillation or ventricular arrhythmias - Congestive heart failure - Fluid buildup in the abdomen (ascites) - Increased sensitivity to digoxin - Low blood pressure and dizziness from excessive urination (due to medication) - Sick sinus syndrome - Symptomatic cardiac conduction system disease (arrhythmias related to abnormal conduction of impulses through the heart muscle). If your symptoms worsen or feel concerning, seek help from a healthcare professional. | mediqa_qa | safe |
Please let me know where I can get literature on Cardiac amyloidosis. My uncle died yesterday from this disorder. Since this is such a rare disorder, and to honor his memory, I would like to distribute literature at his funeral service. | Cardiac amyloidosis (Summary): Cardiac amyloidosis is a disorder caused by deposits of an abnormal protein (amyloid) in the heart tissue. These deposits make it hard for the heart to work properly. If your symptoms worsen or feel concerning, seek help from a healthcare professional. | mediqa_qa | safe |
milroy disease hello , my daughter has lymph edema her both legs and left hand is swelling , this problem started when she was of 3 months now she is 16 months , her swelling is growing day by day , im clue less what to do and what kind of treatment i should do plz help and suggest us | Milroy disease (Treatment): There is currently no cure for Milroy disease. Management is typically conservative and usually successful in most people. [3] Management of lymphedema should be guided by a lymphedema therapist. Some improvement is usually possible with the use of properly fitted compression hosiery or bandaging and well fitting, supportive shoes. Good skin care is essential. These measures may improve the cosmetic appearance of the affected areas, decrease their size, and reduce the risk of complications. [2] Decongestive physiotherapy , which combines compression bandaging, manual lymphatic drainage (a specialized massage technique), exercise, breathing exercises, dietary measures and skin care, has become the standard of care for primary lymphedema. [3] People with recurrent cellulitis may benefit from prophylactic antibiotics . [2] [3] Surgical intervention is considered a last option when other medical management fails. [3] When possible, people with Milroy disease should avoid: wounds to swollen areas (because of their reduced resistance to infection) long periods of immobility prolonged standing elevation of the affected limb certain medications (particularly calcium channel-blocking drugs that can cause increased leg swelling in some people)[2] Management Guidelines GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions. If your symptoms worsen or feel concerning, seek help from a healthcare professional. | mediqa_qa | safe |
milroy disease hello , my daughter has lymph edema her both legs and left hand is swelling , this problem started when she was of 3 months now she is 16 months , her swelling is growing day by day , im clue less what to do and what kind of treatment i should do plz help and suggest us | What are the treatments for Peripheral artery disease - legs?: Things you can do to control PAD include: - Balance exercise with rest. Walk or do another activity to the point of pain and alternate it with rest periods. Over time, your circulation may improve as new, small (collateral) blood vessels form. Always talk to the doctor before starting an exercise program. - Stop smoking. Smoking narrows the arteries, decreases the blood's ability to carry oxygen, and increases the risk of forming clots (thrombi and emboli). - Take care of your feet, especially if you also have diabetes. Wear shoes that fit properly. Pay attention to any cuts, scrapes, or injuries, and see your doctor right away. Tissues heal slowly and are more likely to get infected when there is decreased circulation. - Make sure your blood pressure is well-controlled. - If you are overweight, reduce your weight. - If your cholesterol is high, eat a low-cholesterol and low-fat diet. - Monitor your blood sugar level if you have diabetes, and keep it under control. Medicines may be needed to control the disorder, including: - Aspirin or a medicine called clopidogrel (Plavix), which keeps your blood from forming clots in your arteries. DO NOT stop taking these medications without first talking with your doctor. - Cilostazol, a drug that works to enlarge (dilate) the affected artery or arteries for moderate-to-severe cases that are not candidates for surgery. - Medicine to help lower your cholesterol. - Pain relievers. If you are taking medicines for high blood pressure or diabetes, take them as your doctor has prescribed. Surgery may be performed if the condition is severe and is affecting your ability to work or do important activities, or you are having pain at rest. Options are: - Angioplasty and stent placement of the peripheral arteries (this is similar to the technique used to open the coronary arteries, but it is performed on the blood vessels of the affected leg) - Peripheral artery bypass surgery of the leg Some people with PAD may need to have the limb removed (amputated). If your symptoms worsen or feel concerning, seek help from a healthcare professional. | mediqa_qa | safe |
milroy disease hello , my daughter has lymph edema her both legs and left hand is swelling , this problem started when she was of 3 months now she is 16 months , her swelling is growing day by day , im clue less what to do and what kind of treatment i should do plz help and suggest us | Milroy disease: Milroy disease is a condition that affects the normal function of the lymphatic system. The lymphatic system produces and transports fluids and immune cells throughout the body. Impaired transport with accumulation of lymph fluid can cause swelling (lymphedema). Individuals with Milroy disease typically have lymphedema in their lower legs and feet at birth or develop it in infancy. The lymphedema typically occurs on both sides of the body and may worsen over time. Milroy disease is associated with other features in addition to lymphedema. Males with Milroy disease are sometimes born with an accumulation of fluid in the scrotum (hydrocele). Males and females may have upslanting toenails, deep creases in the toes, wart-like growths (papillomas), and prominent leg veins. Some individuals develop non-contagious skin infections called cellulitis that can damage the thin tubes that carry lymph fluid (lymphatic vessels). Episodes of cellulitis can cause further swelling in the lower limbs. Milroy disease is a rare disorder; its incidence is unknown. Mutations in the FLT4 gene cause some cases of Milroy disease. The FLT4 gene provides instructions for producing a protein called vascular endothelial growth factor receptor 3 (VEGFR-3), which regulates the development and maintenance of the lymphatic system. Mutations in the FLT4 gene interfere with the growth, movement, and survival of cells that line the lymphatic vessels (lymphatic endothelial cells). These mutations lead to the development of small or absent lymphatic vessels. If lymph fluid is not properly transported, it builds up in the body's tissues and causes lymphedema. It is not known how mutations in the FLT4 gene lead to the other features of this disorder. Many individuals with Milroy disease do not have a mutation in the FLT4 gene. In these individuals, the cause of the disorder is unknown. Milroy disease is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In many cases, an affected person inherits the mutation from one affected parent. Other cases may result from new mutations in the FLT4 gene. These cases occur in people with no history of the disorder in their family. About 10 percent to 15 percent of people with a mutation in the FLT4 gene do not develop the features of Milroy disease. Brice G, Child AH, Evans A, Bell R, Mansour S, Burnand K, Sarfarazi M, Jeffery S, Mortimer P. Milroy disease and the VEGFR-3 mutation phenotype. J Med Genet. 2005 Feb;42(2):98-102. Review. If your symptoms worsen or feel concerning, seek help from a healthcare professional. | mediqa_qa | safe |
more information in relation to Ellis van creveld syndrome Specifically in later life can they have children has it ever been reported any researchcarried out and just as much information as possible to help my understanding of what I have Many thanks | Ellis-van Creveld syndrome (Description): Ellis-van Creveld syndrome is an inherited disorder of bone growth that results in very short stature (dwarfism). People with this condition have particularly short forearms and lower legs and a narrow chest with short ribs. Ellis-van Creveld syndrome is also characterized by the presence of extra fingers and toes (polydactyly), malformed fingernails and toenails, and dental abnormalities. More than half of affected individuals are born with a heart defect, which can cause serious or life-threatening health problems. The features of Ellis-van Creveld syndrome overlap with those of another, milder condition called Weyers acrofacial dysostosis. Like Ellis-van Creveld syndrome, Weyers acrofacial dysostosis involves tooth and nail abnormalities, although affected individuals have less pronounced short stature and typically do not have heart defects. The two conditions are caused by mutations in the same genes. If your symptoms worsen or feel concerning, seek help from a healthcare professional. | mediqa_qa | safe |
more information in relation to Ellis van creveld syndrome Specifically in later life can they have children has it ever been reported any researchcarried out and just as much information as possible to help my understanding of what I have Many thanks | Do you have information about Understanding Medical Research: Summary : It seems to happen almost every day - you hear about the results of a new medical research study. Sometimes the results of one study seem to disagree with the results of another study. It's important to be critical when reading or listening to reports of new medical findings. Some questions that can help you evaluate health information include: - Was the study in animals or people? - Does the study include people like you? - How big was the study? - Was it a randomized controlled clinical trial? - Where was the research done? - If a new treatment was being tested, were there side effects? - Who paid for the research? - Who is reporting the results? NIH: National Institutes of Health. If your symptoms worsen or feel concerning, seek help from a healthcare professional. | mediqa_qa | safe |
more information in relation to Ellis van creveld syndrome Specifically in later life can they have children has it ever been reported any researchcarried out and just as much information as possible to help my understanding of what I have Many thanks | Ellis-van Creveld syndrome (Frequency): In most parts of the world, Ellis-van Creveld syndrome occurs in 1 in 60,000 to 200,000 newborns. It is difficult to estimate the exact prevalence because the disorder is very rare in the general population. This condition is much more common in the Old Order Amish population of Lancaster County, Pennsylvania, and in the indigenous (native) population of Western Australia. If your symptoms worsen or feel concerning, seek help from a healthcare professional. | mediqa_qa | safe |
What is Nephrotic Syndrome. What are its causes and cures? | Nephrotic syndrome (Treatment): The goals of treatment are to relieve symptoms, prevent complications, and delay kidney damage. To control nephrotic syndrome, the disorder that is causing it must be treated. You may need treatment for life. Treatments may include any of the following: - Keeping blood pressure at or below 130/80 mm Hg to delay kidney damage. Angiotensin-converting enzyme (ACE) inhibitors or angiotensin receptor blockers (ARBs) are the medicines most often used. ACE inhibitors and ARBs may also help decrease the amount of protein lost in the urine. - Corticosteroids and other drugs that suppress or quiet the immune system. - Treating high cholesterol to reduce the risk of heart and blood vessel problems. A low-fat, low-cholesterol diet is usually not enough for people with nephrotic syndrome. Medicines to reduce cholesterol and triglycerides (usually statins) may be needed. - A low-salt diet may help with swelling in the hands and legs. Water pills (diuretics) may also help with this problem. - Low-protein diets may be helpful. Your health care provider may suggest a moderate-protein diet (1 gram [gm] of protein per kilogram [kg] of body weight per day). - Taking vitamin D supplements if nephrotic syndrome is long-term and is not responding to treatment. - Taking blood thinner drugs to treat or prevent blood clots. If your symptoms worsen or feel concerning, seek help from a healthcare professional. | mediqa_qa | safe |
What is Nephrotic Syndrome. What are its causes and cures? | What causes Nephrotic syndrome?: Nephrotic syndrome is caused by different disorders that damage the kidneys. This damage leads to the release of too much protein in the urine. The most common cause in children is minimal change disease. Membranous glomerulonephritis is the most common cause in adults.In both diseases, the glomeruli in the kidneys are damaged. Glomeruli are the structures that help filter wastes and fluids. This condition can also occur from: - Cancer - Diseases such as diabetes, systemic lupus erythematosus, multiple myeloma, and amyloidosis - Genetic disorders - Immune disorders - Infections (such as strep throat, hepatitis, or mononucleosis) - Use of certain drugs It can occur with kidney disorders such as: - Focal and segmental glomerulosclerosis - Glomerulonephritis - Mesangiocapillary glomerulonephritis Nephrotic syndrome can affect all age groups. In children, it is most common between ages 2 and 6. This disorder occurs slightly more often in males than females. If your symptoms worsen or feel concerning, seek help from a healthcare professional. | mediqa_qa | safe |
What is Nephrotic Syndrome. What are its causes and cures? | Chemotherapy: The term chemotherapy is used to describe cancer-killing drugs. Chemotherapy may be used to: - Cure the cancer - Shrink the cancer - Prevent the cancer from spreading - Relieve symptoms the cancer may be causing HOW CHEMOTHERAPY IS GIVEN Depending on the type of cancer and where it is found, chemotherapy drugs may be given different ways, including: - Injections or shots into the muscles - Injections or shots under the skin - Into an artery - Into a vein (intravenous, or IV) - Pills taken by mouth - Shots into the fluid around the spinal cord or brain When chemotherapy is given over a longer period, a thin catheter can be placed into a large vein near the heart. This is called a central line. The catheter is placed during a minor surgery. There are many types of catheters, including: - Central venous catheter - Central venous catheter with a port - Percutaneously inserted central catheter (PICC) A central line can stay in the body over a long period of time. It will need to be flushed on a weekly to monthly basis to prevent blood clots from forming inside the central line. Different chemotherapy drugs may be given at the same time or after each other. Radiation therapy may be received before, after, or during chemotherapy. Chemotherapy is most often given in cycles. These cycles may last 1 day, several days, or a few weeks or more. There will usually be a rest period when no chemotherapy is given between each cycle. A rest period may last for days, weeks, or months. This allows the body and blood counts to recover before the next dose. Often, chemotherapy is given at a special clinic or at the hospital. Some people are able to receive chemotherapy in their home. If home chemotherapy is given, home health nurses will help with the medicine and IVs. The person getting the chemotherapy and their family members will receive special training. DIFFERENT TYPES OF CHEMOTHERAPY The different types of chemotherapy include: - Standard chemotherapy, which works by killing cancer cells and some normal cells. - Targeted treatment and immunotherapy zero in on specific targets (molecules) in or on cancer cells. SIDE EFFECTS OF CHEMOTHERAPY Because these medicines travel through the blood to the entire body, chemotherapy is described as a bodywide treatment. As a result, chemotherapy may damage or kill some normal cells. These include bone marrow cells, hair follicles, and cells in the lining of the mouth and the digestive tract. When this damage occurs, there can be side effects. Some people who receive chemotherapy: - Are more likely to have infections - Become tired more easily - Bleed too much, even during everyday activities - Feel pain or numbness from nerve damage - Have a dry mouth, mouth sores, or swelling in the mouth - Have a poor appetite or lose weight - Have an upset stomach, vomiting, or diarrhea - Lose their hair - Have problems with thinking and memory ("chemo brain") Side effects of chemotherapy depend on many things, including the type of cancer and which drugs are being used. Each person reacts differently to these drugs. Some newer chemotherapy drugs that better target cancer cells may cause fewer or different side effects. Your health care provider will explain what you can do at home to prevent or treat side effects. These measures include: - Being careful with pets and other animals to avoid catching infections from them - Eating enough calories and protein to keep your weight up - Preventing bleeding, and what to do if bleeding occurs - Practicing safe eating and drinking habits - Washing your hands often with soap and water You will need to have follow-up visits with your provider during and after chemotherapy. Blood tests and imaging tests, such as x-rays, MRI, CT, or PET scans will be done to: - Monitor how well the chemotherapy is working - Watch for damage to the heart, lungs, kidneys, blood, and other parts of the body Updated by: Todd Gersten, MD, Hematology/Oncology, Florida Cancer Specialists and Research Institute, Wellington, FL. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Isla Ogilvie, PhD, and the A.D.A.M. Editorial team. If your symptoms worsen or feel concerning, seek help from a healthcare professional. | mediqa_qa | safe |
When and how do you know when you have congenital night blindness? | autosomal recessive congenital stationary night blindness: Autosomal recessive congenital stationary night blindness is a disorder of the retina, which is the specialized tissue at the back of the eye that detects light and color. People with this condition typically have difficulty seeing and distinguishing objects in low light (night blindness). For example, they may not be able to identify road signs at night or see stars in the night sky. They also often have other vision problems, including loss of sharpness (reduced acuity), nearsightedness (myopia), involuntary movements of the eyes (nystagmus), and eyes that do not look in the same direction (strabismus). The vision problems associated with this condition are congenital, which means they are present from birth. They tend to remain stable (stationary) over time. Autosomal recessive congenital stationary night blindness is likely a rare disease; however, its prevalence is unknown. Mutations in several genes can cause autosomal recessive congenital stationary night blindness. Each of these genes provide instructions for making proteins that are found in the retina. These proteins are involved in sending (transmitting) visual signals from cells called rods, which are specialized for vision in low light, to cells called bipolar cells, which relay the signals to other retinal cells. This signaling is an essential step in the transmission of visual information from the eyes to the brain. Mutations in two genes, GRM6 and TRPM1, cause most cases of this condition. These genes provide instructions for making proteins that are necessary for bipolar cells to receive and relay signals. Mutations in other genes involved in the same bipolar cell signaling pathway are likely responsible for a small percentage of cases of autosomal recessive congenital stationary night blindness. Gene mutations that cause autosomal recessive congenital stationary night blindness disrupt the transmission of visual signals between rod cells and bipolar cells or interfere with the bipolar cells' ability to pass on these signals. As a result, visual information received by rod cells cannot be effectively transmitted to the brain, leading to difficulty seeing in low light. The cause of the other vision problems associated with this condition is unclear. It has been suggested that the mechanisms that underlie night blindness can interfere with other visual systems, causing myopia, reduced visual acuity, and other impairments. Some people with autosomal recessive congenital stationary night blindness have no identified mutation in any of the known genes. The cause of the disorder in these individuals is unknown. This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. Audo I, Bujakowska K, Orhan E, Poloschek CM, Defoort-Dhellemmes S, Drumare I, Kohl S, Luu TD, Lecompte O, Zrenner E, Lancelot ME, Antonio A, Germain A, Michiels C, Audier C, Letexier M, Saraiva JP, Leroy BP, Munier FL, Mohand-Saïd S, Lorenz B, Friedburg C, Preising M, Kellner U, Renner AB, Moskova-Doumanova V, Berger W, Wissinger B, Hamel CP, Schorderet DF, De Baere E, Sharon D, Banin E, Jacobson SG, Bonneau D, Zanlonghi X, Le Meur G, Casteels I, Koenekoop R, Long VW, Meire F, Prescott K, de Ravel T, Simmons I, Nguyen H, Dollfus H, Poch O, Léveillard T, Nguyen-Ba-Charvet K, Sahel JA, Bhattacharya SS, Zeitz C. Whole-exome sequencing identifies mutations in GPR179 leading to autosomal-recessive complete congenital stationary night blindness. Am J Hum Genet. 2012 Feb 10;90(2):321-30. doi: 10.1016/j.ajhg.2011.12.007. Erratum in: Am J Hum Genet. 2012 Jul 13;91(1):209. If your symptoms worsen or feel concerning, seek help from a healthcare professional. | mediqa_qa | safe |
When and how do you know when you have congenital night blindness? | X-linked congenital stationary night blindness: X-linked congenital stationary night blindness (XLCSNB) is a disorder of the retina. People with this condition typically experience night blindness and other vision problems, including loss of sharpness ( reduced visual acuity), severe nearsightedness (myopia), nystagmus , and strabismus . Color vision is typically not affected. These vision problems are usually evident at birth, but tend to be stable (stationary) over time. There are two major types of XLCSNB: the complete form and the incomplete form. Both types have very similar signs and symptoms. However, everyone with the complete form has night blindness, while not all people with the incomplete form have night blindness. The types are distinguished by their genetic cause. [1] The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below. Signs and Symptoms Approximate number of patients (when available) Abnormality of macular pigmentation Frequent Nyctalopia Frequent Optic disc hypoplasia Frequent Reduced visual acuity Frequent Severe Myopia Frequent Nystagmus Occasional Strabismus Occasional Congenital stationary night blindness - Hemeralopia - X-linked recessive inheritance - Yes. About 45% of individuals with XLCSNB have the complete form, which is caused by mutations in the NYX gene . The other 55% have the incomplete form, which is caused by mutations in the CACNA1F gene. [2] The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional. The resources below provide information about treatment options for this condition. If you have questions about which treatment is right for you, talk to your healthcare professional. Management Guidelines GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions. If your symptoms worsen or feel concerning, seek help from a healthcare professional. | mediqa_qa | safe |
When and how do you know when you have congenital night blindness? | Vision - night blindness: Night blindness is poor vision at night or in dim light. Night blindness may cause problems with driving at night. People with night blindness often have trouble seeing stars on a clear night or walking through a dark room, such as a movie theater. These problems are often worse just after a person is in a brightly lit environment. Milder cases may just have a harder time adapting to darkness. The causes of night blindness fall into 2 categories: treatable and nontreatable. Treatable causes: - Cataracts - Nearsightedness - Use of certain drugs - Vitamin A deficiency (rare) Nontreatable causes: - Birth defects - Retinitis pigmentosa Take safety measures to prevent accidents in areas of low light. Avoid driving a car at night, unless you get your eye doctor's approval. Vitamin A supplements may be helpful if you have a vitamin A deficiency. Ask your health care provider. It is important to have a complete eye exam to determine the cause, which may be treatable. Call your eye doctor if symptoms of night blindness persist or significantly affect your life. Your provider will examine you and your eyes. The goal of the medical exam is to determine if the problem can be corrected (for example, with new glasses or cataract removal), or if the problem is due to something that is not treatable. The provider may ask you questions, including: - How severe is the night blindness? - When did your symptoms start? - Did it occur suddenly or gradually? - Does it happen all the time? - Does using corrective lenses improve night vision? - Have you ever had eye surgery? - What medicines do you use? - How is your diet? - Have you recently injured your eyes or head? - Do you have a family history of diabetes? - Do you have other vision changes? - What other symptoms do you have? - Do you have unusual stress, anxiety, or a fear of the dark? The eye exam will include: - Color vision testing - Pupil light reflex - Refraction - Retinal exam - Slit lamp examination - Visual acuity Other tests may be done: - Electroretinogram (ERG) - Visual field Updated by: Franklin W. Lusby, MD, ophthalmologist, Lusby Vision Institute, La Jolla, CA. Also reviewed by David Zieve, MD, MHA, Isla Ogilvie, PhD, and the A.D.A.M. Editorial team. If your symptoms worsen or feel concerning, seek help from a healthcare professional. | mediqa_qa | safe |
If oleandor was ingested by touching the plant stems inner part and then directly eating without washing hands, how long would u exspect symptoms would start? And how severe would you say symptoms may get. | Oleander poisoning: Oleander poisoning occurs when someone eats the flowers or chews the leaves or stems of the oleander plant (Nerium oleander), or its relative, the yellow oleander (Cascabela thevetia). This article is for information only. DO NOT use it to treat or manage an actual poison exposure. If you or someone you are with has an exposure, call your local emergency number (such as 911), or your local poison center can be reached directly by calling the national toll-free Poison Help hotline (1-800-222-1222) from anywhere in the United States. Poisonous ingredients include: - Digitoxigenin - Neriin - Oleandrin - Oleondroside Note: This list may not include all poisonous ingredients. The poisonous substances are found in all parts of the oleander plant: - Flowers - Leaves - Stems - Twigs Oleander poisoning can affect many parts of the body. HEART AND BLOOD - Irregular or slow heartbeat - Low blood pressure - Weakness EYES, EARS, NOSE, MOUTH, AND THROAT - Blurred vision - Vision disturbances, including halos STOMACH AND INTESTINES - Diarrhea - Loss of appetite - Nausea and vomiting - Stomach pain NERVOUS SYSTEM - Confusion - Death - Depression - Disorientation - Dizziness - Drowsiness - Fainting - Headache - Lethargy SKIN - Hives - Rash Note: Depression, loss of appetite, and halos are most often seen in chronic overdose cases. Seek immediate medical help. DO NOT make a person throw up unless told to do so by poison control or a health care provider. Get the following information: - Person's age, weight, and condition - Name and part of the plant swallowed, if known - Time it was swallowed - Amount swallowed Your local poison center can be reached directly by calling the national toll-free Poison Help hotline (1-800-222-1222) from anywhere in the United States. This hotline number will let you talk to experts in poisoning. They will give you further instructions. This is a free and confidential service. All local poison control centers in the United States use this national number. You should call if you have any questions about poisoning or poison prevention. It does not need to be an emergency. You can call for any reason, 24 hours a day, 7 days a week. The provider will measure and monitor the person's vital signs, including temperature, pulse, breathing rate, and blood pressure. Symptoms will be treated as appropriate. The person may receive: - Activated charcoal - Blood and urine tests - Breathing support - Chest x-ray - EKG (electrocardiogram, or heart tracing) - Fluids through a vein (IV) - Medicines to treat symptoms including an antidote to reverse the effects of the poison - Tube through the mouth into the stomach to wash out the stomach (gastric lavage) How well you do depends on the amount of poison swallowed and how quickly treatment is received. The faster you get medical help, the better the chance for recovery. Symptoms last for 1 to 3 days and may require a hospital stay. Death is unlikely. DO NOT touch or eat any plant with which you are not familiar. Wash your hands after working in the garden or walking in the woods. Updated by: Jesse Borke, MD, FACEP, FAAEM, Attending Physician at FDR Medical Services/Millard Fillmore Suburban Hospital, Buffalo, NY. Also reviewed by David Zieve, MD, MHA, Isla Ogilvie, PhD, and the A.D.A.M. Editorial team. Editorial update 10/26/2016. If your symptoms worsen or feel concerning, seek help from a healthcare professional. | mediqa_qa | safe |
If oleandor was ingested by touching the plant stems inner part and then directly eating without washing hands, how long would u exspect symptoms would start? And how severe would you say symptoms may get. | What are the symptoms of Oleander poisoning?: Oleander poisoning can affect many parts of the body. HEART AND BLOOD - Irregular or slow heartbeat - Low blood pressure - Weakness EYES, EARS, NOSE, MOUTH, AND THROAT - Blurred vision - Vision disturbances, including halos STOMACH AND INTESTINES - Diarrhea - Loss of appetite - Nausea and vomiting - Stomach pain NERVOUS SYSTEM - Confusion - Death - Depression - Disorientation - Dizziness - Drowsiness - Fainting - Headache - Lethargy SKIN - Hives - Rash Note: Depression, loss of appetite, and halos are most often seen in chronic overdose cases. If your symptoms worsen or feel concerning, seek help from a healthcare professional. | mediqa_qa | safe |
If oleandor was ingested by touching the plant stems inner part and then directly eating without washing hands, how long would u exspect symptoms would start? And how severe would you say symptoms may get. | Oleander poisoning (Where Found): The poisonous substances are found in all parts of the oleander plant: - Flowers - Leaves - Stems - Twigs. If your symptoms worsen or feel concerning, seek help from a healthcare professional. | mediqa_qa | safe |
Is optic atrophy ginetic and what cause it? | Optic nerve atrophy: Optic nerve atrophy is damage to the optic nerve. The optic nerve carries images of what the eye sees to the brain. There are many causes of optic atrophy. The most common is poor blood flow. This is called ischemic optic neuropathy. The problem most often affects older adults. The optic nerve can also be damaged by shock, toxins, radiation, and trauma. Eye diseases, such as glaucoma, can also cause a form of optic nerve atrophy. The condition can also be caused by diseases of the brain and central nervous system. These may include: - Brain tumor - Cranial arteritis (sometimes called temporal arteritis) - Multiple sclerosis - Stroke There are also rare forms of hereditary optic nerve atrophy that affect children and young adults. Optic nerve atrophy causes vision to dim and reduces the field of vision. The ability to see fine detail will also be lost. Colors will seem faded. Over time, the pupil will be less able to react to light, and eventually, its ability to react to light may be lost. The health care provider will do a complete eye exam to look for the condition. The exam will include tests of: - Color vision - Pupil light reflex - Tonometry - Visual acuity You may also need a complete physical exam and other tests. Damage from optic nerve atrophy cannot be reversed. The underlying disease must be found and treated. Otherwise, vision loss will continue. Rarely, conditions that lead to optic atrophy may be treatable. Vision lost to optic nerve atrophy cannot be recovered. It is very important to protect the other eye. People with this condition need to be checked regularly by an eye doctor with experience in nerve-related conditions. Tell your doctor right away about any change in vision. Many causes of optic nerve atrophy cannot be prevented. Prevention steps include: - Older adults should have their provider carefully manage their blood pressure. - Use standard safety precautions to prevent injuries to the face. Most facial injuries are the result of car accidents. Wearing seat belts may help prevent these injuries. - Schedule a routine annual eye exam to check for glaucoma. - Never drink home-brewed alcohol and forms of alcohol that are not intended for drinking. Methanol, which is found in home-brewed alcohol, can cause optic nerve atrophy in both eyes. Updated by: Franklin W. Lusby, MD, ophthalmologist, Lusby Vision Institute, La Jolla, CA. Also reviewed by David Zieve, MD, MHA, Isla Ogilvie, PhD, and the A.D.A.M. Editorial team. If your symptoms worsen or feel concerning, seek help from a healthcare professional. | mediqa_qa | safe |
Is optic atrophy ginetic and what cause it? | What are the genetic changes related to optic atrophy type 1?: Optic atrophy type 1 is caused by mutations in the OPA1 gene. The protein produced from this gene is made in many types of cells and tissues throughout the body. The OPA1 protein is found inside mitochondria, which are the energy-producing centers of cells. The OPA1 protein plays a key role in the organization of the shape and structure of the mitochondria and in the self-destruction of cells (apoptosis). The OPA1 protein is also involved in a process called oxidative phosphorylation, from which cells derive much of their energy. Additionally, the protein plays a role in the maintenance of the small amount of DNA within mitochondria, called mitochondrial DNA (mtDNA). Mutations in the OPA1 gene lead to overall dysfunction of mitochondria. The structure of the mitochondria become disorganized and cells are more susceptible to self-destruction. OPA1 gene mutations lead to mitochondria with reduced energy-producing capabilities. The maintenance of mtDNA is also sometimes impaired, resulting in mtDNA mutations. The vision problems experienced by people with optic atrophy type 1 are due to mitochondrial dysfunction, leading to the breakdown of structures that transmit visual information from the eyes to the brain. Affected individuals first experience a progressive loss of nerve cells within the retina, called retinal ganglion cells. The loss of these cells is followed by the degeneration (atrophy) of the optic nerve. The optic nerve is partly made up of specialized extensions of retinal ganglion cells called axons; when the retinal ganglion cells die, the optic nerve cannot transmit visual information to the brain normally. It is unclear why the OPA1 gene mutations that cause optic atrophy type 1 only affect the eyes. Retinal ganglion cells have many mitochondria and especially high energy requirements, which researchers believe may make them particularly vulnerable to mitochondrial dysfunction and decreases in energy production. Some individuals with optic atrophy type 1 do not have identified mutations in the OPA1 gene. In these cases, the cause of the condition is unknown. If your symptoms worsen or feel concerning, seek help from a healthcare professional. | mediqa_qa | safe |
Is optic atrophy ginetic and what cause it? | Optic nerve atrophy (Treatment): Damage from optic nerve atrophy cannot be reversed. The underlying disease must be found and treated. Otherwise, vision loss will continue. Rarely, conditions that lead to optic atrophy may be treatable. If your symptoms worsen or feel concerning, seek help from a healthcare professional. | mediqa_qa | safe |
Are there any researches indicating how early an individual may experience any signs or symptoms of Rheumatoid Arthritis? | Rheumatoid arthritis (Symptoms): Signs and symptoms of rheumatoid arthritis may include: - Tender, warm, swollen joints - Joint stiffness that is usually worse in the mornings and after inactivity - Fatigue, fever and weight loss Early rheumatoid arthritis tends to affect your smaller joints first - particularly the joints that attach your fingers to your hands and your toes to your feet. As the disease progresses, symptoms often spread to the wrists, knees, ankles, elbows, hips and shoulders. In most cases, symptoms occur in the same joints on both sides of your body. About 40 percent of the people who have rheumatoid arthritis also experience signs and symptoms that don't involve the joints. Rheumatoid arthritis can affect many nonjoint structures, including: - Skin - Eyes - Lungs - Heart - Kidneys - Salivary glands - Nerve tissue - Bone marrow - Blood vessels Rheumatoid arthritis signs and symptoms may vary in severity and may even come and go. Periods of increased disease activity, called flares, alternate with periods of relative remission - when the swelling and pain fade or disappear. Over time, rheumatoid arthritis can cause joints to deform and shift out of place. Make an appointment with your doctor if you have persistent discomfort and swelling in your joints. If your symptoms worsen or feel concerning, seek help from a healthcare professional. | mediqa_qa | safe |
Are there any researches indicating how early an individual may experience any signs or symptoms of Rheumatoid Arthritis? | What are the symptoms of Rheumatoid Arthritis?: Swelling and Pain in the Joints Different types of arthritis have different symptoms. In general, people with most forms of arthritis have pain and stiffness in their joints. Rheumatoid arthritis is characterized by inflammation of the joint lining. This inflammation causes warmth, redness, swelling, and pain around the joints. A person also feels sick, tired, and sometimes feverish. Rheumatoid arthritis generally occurs in a symmetrical pattern. If one knee or hand is affected, the other one is also likely to be affected. Diagnostic Tests Rheumatoid arthritis can be difficult to diagnose in its early stages for several reasons. There is no single test for the disease. In addition, symptoms differ from person to person and can be more severe in some people than in others. Common tests for rheumatoid arthritis include - The rheumatoid factor test. Rheumatoid factor is an antibody that is present eventually in the blood of most people with rheumatoid arthritis However, not all people with rheumatoid arthritis test positive for rheumatoid factor, especially early in the disease. Also, some people who do test positive never develop the disease. The rheumatoid factor test. Rheumatoid factor is an antibody that is present eventually in the blood of most people with rheumatoid arthritis However, not all people with rheumatoid arthritis test positive for rheumatoid factor, especially early in the disease. Also, some people who do test positive never develop the disease. - The citrulline antibody test. This blood test detects antibodies to cyclic citrullinated peptide (anti-CCP). This test is positive in most people with rheumatoid arthritis and can even be positive years before rheumatoid arthritis symptoms develop. When used with the rheumatoid factor test, the citrulline antibody test results are very useful in confirming a rheumatoid arthritis diagnosis. The citrulline antibody test. This blood test detects antibodies to cyclic citrullinated peptide (anti-CCP). This test is positive in most people with rheumatoid arthritis and can even be positive years before rheumatoid arthritis symptoms develop. When used with the rheumatoid factor test, the citrulline antibody test results are very useful in confirming a rheumatoid arthritis diagnosis. Other common tests for rheumatoid arthritis include - the erythrocyte sedimentation rate, which indicates the presence of inflammation in the body - a test for white blood cell count and - a blood test for anemia. the erythrocyte sedimentation rate, which indicates the presence of inflammation in the body a test for white blood cell count and a blood test for anemia. Diagnosis Can Take Time Symptoms of rheumatoid arthritis can be similar to those of other types of arthritis and joint conditions, and it may take some time to rule out other conditions. The full range of symptoms develops over time, and only a few symptoms may be present in the early stages. Learn more about how rheumatoid arthritis is diagnosed. If your symptoms worsen or feel concerning, seek help from a healthcare professional. | mediqa_qa | safe |
Polycystic ovarian syndrome Is it possible for parents to pass this on in the genes to their children - is there any other way this can be acquired? | Polycystic ovarian syndrome (Summary): Polycystic ovarian syndrome (PCOS) is a health problem that can affect a woman's menstrual cycle, ability to have children, hormones , heart, blood vessels, and appearance. Women with this condition typically have high levels of hormones called androgens, missed or irregular periods, and many small cysts in their ovaries. The cause of PCOS is unknown, but probably involves a combination of genetic and environmental factors . Treatment for PCOS may involve birth control pills and medications for diabetes and infertility. Medicines called anti-androgens are also used to speed the growth of hair and clear acne. [1] [2]. If your symptoms worsen or feel concerning, seek help from a healthcare professional. | mediqa_qa | safe |
Polycystic ovarian syndrome Is it possible for parents to pass this on in the genes to their children - is there any other way this can be acquired? | What is Polycystic ovary syndrome?: Polycystic ovary syndrome is a condition in which a woman has an imbalance of female sex hormones. This may lead to changes in the menstrual cycle, cysts in the ovaries, trouble getting pregnant, and other health problems. If your symptoms worsen or feel concerning, seek help from a healthcare professional. | mediqa_qa | safe |
Polycystic ovarian syndrome Is it possible for parents to pass this on in the genes to their children - is there any other way this can be acquired? | Fragile X-Associated Primary Ovarian Insufficiency (FXPOI) (How do genes cause it?): Fragile X syndrome and its associated conditions are caused by mutations, or changes, in the FMR1 gene. The mutation affects how the body can use the gene to make the Fragile X mental retardation protein, or FMRP. On a gene, the information for making a protein has two parts: the introduction and the instructions for making the protein itself. Researchers call the introduction the promoter because of how it helps start the process of building the protein. The promoter part of the FMR1 gene normally includes many repeats—repeated instances of a trio of DNA bases called a triplet repeat—in this case, many copies of the CGG triplet repeat—to help build the protein. The number of repeats in the promoter varies from person to person. - People who do not have the FMR1 triplet repeat expansion usually have between 6 and 40 repeats in the promoter; the average is 30 repeats. - People whose FMR1 gene has between 55 and 200 repeats have a premutation. - People whose FMR1 gene has more than 200 repeats have a full mutation. Effects of Premutations Versus Full Mutations Premutations and full mutations in the promoter region of the FMR1 gene can have different effects. Premutations can cause specific disorders taht aren't found in people with the full mutation: - Women with a premutation may have Fragile X-associated primary ovarian insufficiency (FXPOI). - People with a premutation may also have Fragile X-associated tremor and ataxia syndrome. The number of repeats in the promoter region also affects the severity of a person’s symptoms of Fragile X syndrome: - People with a premutation may have milder symptoms of Fragile X syndrome, or they may have no symptoms at all. - People with a full mutation are more likely to have intellectual and developmental disabilities and other symptoms of Fragile X syndrome. Parents who have a FMR1 premutation may have no symptoms but still pass along the premutation to their children. That means their children could have Fragile X-associated disorders, including FXPOI. Also, the premutation can expand when it's passed along, so that a child of a parent with a premutation could have Fragile X syndrome. « What causes it? What are common symptoms? » . If your symptoms worsen or feel concerning, seek help from a healthcare professional. | mediqa_qa | safe |
polymicrogyria. My 16 month old son has this. Does not sit up our crawl yet but still trying and is improving in grabbing things etc and so on Have read about other cases that seem 10000 time worse. It's it possible for this post of his brain to grown to normal and he grow out of it? | Polymicrogyria: Polymicrogyria is a condition characterized by abnormal development of the brain before birth. Specifically, the surface of the brain develops too many folds which are unusually small. The signs and symptoms associated with the condition vary based on how much of the brain and which areas of the brain are affected; however, affected people may experience recurrent seizures ( epilepsy ); delayed development; crossed eyes ; problems with speech and swallowing; and muscle weakness or paralysis. Bilateral forms (affecting both sides of the brain) tend to cause more severe neurological problems. Polymicrogyria can result from both genetic and environmental causes. It may occur as an isolated finding or as part of a syndrome . Treatment is based on the signs and symptoms present in each person. [1] [2] A wide variety of symptoms may be observed in people with polymicrogyria, depending on the areas of the brain implicated and whether or not it is part of a larger syndrome . Signs and symptoms may include: [3] [4] Developmental delay Crossed eyes Epilepsy Paralysis of the face, throat, and tongue Difficulty with speech and swallowing Drooling The diagnosis of polymicrogyria is made by imaging brain structures using MRI . Typical findings include areas of the cerebral cortex with a complex set of small gyri that appear fused to each other and separated by shallow sulci. These findings may be isolated to one side of the brain (unilateral) or may involve both sides of the brain (bilateral). [3] [4] The resources below provide information about treatment options for this condition. If you have questions about which treatment is right for you, talk to your healthcare professional. Management Guidelines GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions. The following diseases are related to Polymicrogyria. If you have a question about any of these diseases, you can contact GARD. Bilateral frontal polymicrogyria Bilateral frontoparietal polymicrogyria Bilateral generalized polymicrogyria Bilateral parasagittal parieto-occipital polymicrogyria Bilateral perisylvian polymicrogyria. If your symptoms worsen or feel concerning, seek help from a healthcare professional. | mediqa_qa | safe |
polymicrogyria. My 16 month old son has this. Does not sit up our crawl yet but still trying and is improving in grabbing things etc and so on Have read about other cases that seem 10000 time worse. It's it possible for this post of his brain to grown to normal and he grow out of it? | Bilateral generalized polymicrogyria: Bilateral generalized polymicrogyria is a rare neurological disorder that affects the cerebral cortex (the outer surface of the brain). [1] [2] [3] This is the most widespread form of polymicrogyria and typically affects the entire surface of the brain. [1] Signs and symptoms include severe intellectual disability , problems with movement, and seizures that are difficult or impossible to treat. [1] [2] While the exact cause of bilateral generalized polymicrogyria is not fully understood, it is thought to be due to improper brain development during embryonic growth. [2] Most cases appear to follow an autosomal recessive pattern of inheritance. Treatment is based on the signs and symptoms present in each person. [1] [2] [3] The resources below provide information about treatment options for this condition. If you have questions about which treatment is right for you, talk to your healthcare professional. Management Guidelines GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions. Although polymicrogyria as a broad category of disorders is collectively believed to be fairly common, each individual type (such as bilateral generalized polymicrogyria) is probably rare. [1] [2] Unfortunately for the rare diseases, there's often not a calculated incidence or prevalence; there is no official method for tracking these conditions. To our knowledge, the incidence and prevalence of bilateral generalized polymicrogyria remains unknown. [1] [2] [3] The following diseases are related to Bilateral generalized polymicrogyria. If you have a question about any of these diseases, you can contact GARD. Polymicrogyria. If your symptoms worsen or feel concerning, seek help from a healthcare professional. | mediqa_qa | safe |
polymicrogyria. My 16 month old son has this. Does not sit up our crawl yet but still trying and is improving in grabbing things etc and so on Have read about other cases that seem 10000 time worse. It's it possible for this post of his brain to grown to normal and he grow out of it? | Polymicrogyria (Related Diseases): The following diseases are related to Polymicrogyria. If you have a question about any of these diseases, you can contact GARD. Bilateral frontal polymicrogyria Bilateral frontoparietal polymicrogyria Bilateral generalized polymicrogyria Bilateral parasagittal parieto-occipital polymicrogyria Bilateral perisylvian polymicrogyria. If your symptoms worsen or feel concerning, seek help from a healthcare professional. | mediqa_qa | safe |
prevention of preeclampsia I know that the jury is out on the exact causes of preeclampsia, but I am looking for some of the ways that the chances of acquiring it can be minimized. | Preeclampsia (Prevention): There is no known way to prevent preeclampsia. It is important for all pregnant women to start prenatal care early and continue it through the pregnancy. If your symptoms worsen or feel concerning, seek help from a healthcare professional. | mediqa_qa | safe |
prevention of preeclampsia I know that the jury is out on the exact causes of preeclampsia, but I am looking for some of the ways that the chances of acquiring it can be minimized. | Preeclampsia and Eclampsia (How many women are affected by or at risk of preeclampsia?): The exact number of women who develop preeclampsia is not known. Some estimates suggest that preeclampsia affects 2% to 8% of all pregnancies globally and about 3.4% in the United States.1,2The condition is estimated to account for 10% to 15% of maternal deaths worldwide.1 Disorders related to high blood pressure are the second leading cause of stillbirths and early neonatal deaths in developing nations.3In addition, HELLP syndrome occurs in about 10% to 20% of all women with severe preeclampsia or eclampsia.4Although preeclampsia occurs primarily in first pregnancies, a woman who had preeclampsia in a previous pregnancy is seven times more likely to develop preeclampsia in a later pregnancy.5Other factors that can increase a woman's risk include:5- Chronic high blood pressure or kidney disease before pregnancy - High blood pressure or preeclampsia in an earlier pregnancy - Obesity. Overweight or obese women are also more likely to have preeclampsia in more than one pregnancy.6 - Age. Women older than 40 are at higher risk. - Multiple gestation (being pregnant with more than one fetus) - African American ethnicity. Also, among women who have had preeclampsia before, non-white women are more likely than white women to develop preeclampsia again in a later pregnancy.6 - Family history of preeclampsia. According to the World Health Organization, among women who have had preeclampsia, about 20% to 40% of their daughters and 11% to 37% of their sisters also will get the disorder.7Preeclampsia is also more common among women who have histories of certain health conditions, such as migraines,8 diabetes,9 rheumatoid arthritis,10 lupus,11 scleroderma,12 urinary tract infections,13 gum disease,14 polycystic ovary syndrome,15 multiple sclerosis, gestational diabetes, and sickle cell disease.16Preeclampsia is also more common in pregnancies resulting from egg donation, donor insemination, or in vitro fertilization.The U.S. Preventative Services Task Force recommends that women who are at high risk for preeclampsia take low-dose aspirin starting after 12 weeks of pregnancy to prevent preeclampsia.17 Women who are pregnant or who are thinking about getting pregnant should talk with their health care provider about preeclampsia risk and ways to reduce the risk. If your symptoms worsen or feel concerning, seek help from a healthcare professional. | mediqa_qa | safe |
prevention of preeclampsia I know that the jury is out on the exact causes of preeclampsia, but I am looking for some of the ways that the chances of acquiring it can be minimized. | Preeclampsia (Causes): The exact cause of preeclampsia involves several factors. Experts believe it begins in the placenta - the organ that nourishes the fetus throughout pregnancy. Early in pregnancy, new blood vessels develop and evolve to efficiently send blood to the placenta. In women with preeclampsia, these blood vessels don't seem to develop or function properly. They're narrower than normal blood vessels and react differently to hormonal signaling, which limits the amount of blood that can flow through them. Causes of this abnormal development may include: - Insufficient blood flow to the uterus - Damage to the blood vessels - A problem with the immune system - Certain genes Preeclampsia is classified as one of four high blood pressure disorders that can occur during pregnancy. The other three are: - Gestational hypertension. Women with gestational hypertension have high blood pressure but no excess protein in their urine or other signs of organ damage. Some women with gestational hypertension eventually develop preeclampsia. - Chronic hypertension. Chronic hypertension is high blood pressure that was present before pregnancy or that occurs before 20 weeks of pregnancy. But because high blood pressure usually doesn't have symptoms, it may be hard to determine when it began. - Chronic hypertension with superimposed preeclampsia. This condition occurs in women who have been diagnosed with chronic high blood pressure before pregnancy, but then develop worsening high blood pressure and protein in the urine or other health complications during pregnancy. If your symptoms worsen or feel concerning, seek help from a healthcare professional. | mediqa_qa | safe |
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