Health Care

Birth defects are structural abnormalities that develop as a fetus grows in the womb. They often have complex or unknown causes. In particular, genetics can interact with other conditions, including environmental factors, to cause some human birth defects. Genetic Transmission Genes determine many aspects of physical development. As a rule, one copy of each gene is inherited from each parent. Several types of inheritance are associated with transmission of genetic information. Some traits follow dominant inheritance; only one copy of the gene is necessary to experience a condition, and it overrides the other copy. Others follow recessive inheritance; two copies of the gene are needed in order for its effects to manifest, and individuals with a single copy are unaffected. Other genes follow more complex patterns of inheritance. This is likely the way birth defects are affected by genetics; the extent of the effect of genetics and the exact methods of transmission are not fully u

Birth defects are abnormalities in the body that are present from birth. They can affect many parts and systems of the body. Birth defect causes vary, and often involve an interaction of several factors. A birth defect diagnosis can be given before birth, at birth or sometimes after birth. A birth defect diagnosis can be frightening; however, once a diagnosis has been made, your doctor can advise you as to the best course of treatment for your child. Many children born with a baby birth defect can go on to live happy, healthy lives. Prenatal Birth Defect Diagnosis and Treatment Some birth defects can be diagnosed prenatally, or before the baby is born. Diagnosis can be made using tests, including: Amniocentesis and chorionic villus sampling, to help diagnose genetic or chromosomal defects Maternal blood tests, to detect the presence of certain birth defects Ultrasound, to diagnose structural defects. Prenatal diagnosis can allow for the best possible treatment for birth

Fetal development during pregnancy takes place over the course of 40 weeks, and involves growth and development of all the fetus' physical structures. Abnormalities in any stage of fetal development (particularly during the first few months) can lead to many rare and common birth defects. Causes can be environmental, genetic or the result of an interaction of multiple factors. Environmental Birth Defect Causes A birth defect can be caused by exposure to harmful substances (known as "teratogens") during pregnancy, such as alcohol and prescription or illegal drugs. Anything a mother ingests, inhales or takes in by other methods while pregnant can be transmitted to the fetus, and can affect development. Several factors contribute to the extent teratogens can have on development, including: Developmental stage at the time of exposure Interactions of other environmental or genetic factors Level or duration of exposure. Certain types of maternal illness during pr

Birth defects, also called "congenital abnormalities," are physical abnormalities present in a newborn at birth. These conditions can affect the structure and/or function of various parts of the body. A variety of conditions can cause a birth d efect, including genetic mutations and exposure to toxic substances during fetal development.Other birth defects have causes that a re not well understood. According to the Centers for Disease Control and prevention, birth defects affect approximately one in every 33 babies born in the United States. In 1998, The Birth Defects Prevention Act was signed into law. It allows the CDC to: Collect and analyze data about birth defects Conduct research about the causes and prevention of these conditions Provide information and education to the public about birth defects. Educating the general public about birth defects' causes and prevention may help to reduce the incidence of some birth defects. Birth Defect Terminology S

Birth defects can affect many systems of the body, including the heart. As a group, these birth defects are sometimes called "congenital heart defects." The heart is a complex organ made up of many parts working in concert. Congenital defects that affect the heart can involve any of the heart's structures, including the four chambers, valves, the musculature and the blood vessels. In addition, a heart defect can cause problems in structure, function or both. Some genetic syndromes can include a heart defect as a symptom; however, the cause of most congenital heart defects is unknown. The Human Heart The heart is composed of four chambers: Left atrium Left ventricle Right atrium Right ventricle. The left atrium receives oxygenated blood from the lungs. It is then pumped into the left ventricle, which pumps this blood to the rest of the body via the aorta. Deoxygenated blood is pumped from the body back into the right atrium, and then travels into the right

In humans, internal organs are housed in a cavity, such as the chest cavity or the abdominal cavity. A weakness in a cavity wall can cause a hernia, characterized by the protrusion of internal organs or other tissues outside the walls that normally contain them. Abdominal wall defects can cause herniation of abdominal organs, so that they protrude outside of the abdominal cavity. Surgical treatment is often necessary for these congenital defects of the gastrointestinal system in order to contain the abdominal organs in the cavity. These malformations can affect several organs of the gastrointestinal tract. Types of Abdominal Wall Defects Congenital weaknesses in the abdominal wall usually lead to one of two conditions: Omphalocele :  An omphalocele is a herniation of the intestines or other abdominal organs (such as the liver) outside of the body into the umbilical cord, and out through the navel. The organs are covered by a thin layer of tissue. Babies with an omphalocele ar

Atresia , a closure or absence of a natural passage or orifice in the body, is a birth defect that can affect many parts of the body. In the case of gastrointestinal atresia, the passage of food through various digestive organs can be blocked, preventing the body from processing and extracting nutrients from food, and from excreting waste. Several types of gastrointestinal artresia have been identified. Esophageal Atresia The esophagus is the tube that connects the mouth and throat to the stomach. When you chew and swallow food, it travels down the esophagus for digestion in the stomach. Several types of esophageal atresia exist. In some cases, the esophagus narrows significantly, making it difficult for food to pass through. In most cases, however, the esophagus ends and does not connect to the stomach. Some babies with esophageal atresia may also have a tracheoesophageal fistula, or an abnormal connection between the esophagus and the trachea (windpipe). A baby may choke du

Congenital defects of the gastrointestinal system can sometimes occur during fetal development. In particular, pyloric stenosis is a defect of the gastrointestinal system that affects the way food moves through the digestive tract. Pyloric stenosis is a progressive condition that begins to show symptoms soon after birth. Development of pyloric stenosis is influenced by genetics: A baby's chances of developing it are higher if one of his parents had the condition. Biology and Symptoms of Pyloric Stenosis In healthy people, food travels from the mouth, down the esophagus, and to the stomach. There, it mixes with stomach acid in the early stages of digestion, and is passed to the small intestine for further breakdown through a valve called the "pylorus." In people with pyloric stenosis, muscles of the pylorus thicken gradually over the first several weeks of life, making this opening smaller and smaller until partially digested food from the stomach can no longer pas

Birth defects, also known as "congenital abnormalities," are structural defects in some part or system of the body that can affect the body's function. These congenital defects occur during fetal development, and are present in a baby from birth. Like other complex body systems, the gastrointestinal system (or digestive system), responsible for digestion and extracting nutrients from food, is vulnerable to congenital defects during its development. Healthy Gastrointestinal Tract Function The gastrointestinal system is made up of several organs, including the: Mouth Esophagus Stomach Small intestine: Duodenum, jejunum and ileum Large intestine: Cecum, colon, rectum and anus. In healthy people, food enters the mouth, and is chewed and swallowed, passing through the esophagus to the stomach. The stomach breaks down the food, then passes it into the intestines, where it is digested further, and particles from the food can be absorbed. Waste is stored in the r

A doctor will often begin the process of diagnosing a brain tumor by evaluating both a patient's medical history and symptoms. If the doctor suspects a brain tumor, she must perform further tests to confirm its presence and determine its size and type. A number of tests are available to find the exact location and type of tumor, including: Angiogram Magnetic resonance imaging (MRI) brain scan Myelogram Neurological exam Spinal tap Stereotactic biopsy. Neurological Symptoms Doctors often use neurological exams to diagnose a brain tumor. A physician can determine a great deal about a brain tumor by studying the patient's neurological symptoms and signs. A doctor will often check for problems with: Balance Coordination Hearing Reflexes Vision. Tumors in different areas of the brain will cause different neurological symptoms, which can give clues as to the location of the tumor. Brain Tumor Tests There are several different medical tests that doctor

Brain tumors grow when a mass of abnormal cells forms in or near the brain, which can create increased pressure on, and distortion of, different brain structures. Depending on which regions of the brain are affected, brain tumor symptoms can differ widely from patient to patient, making them hard to diagnose with a physical examination alone. Doctors must use a wide variety of tests and techniques to accurately diagnose tumors in brain tissue. Brain Tumor Symptoms The first step in diagnosing brain tumors is evaluating the symptoms, which vary depending on the size and location of the tumor. Brain tumor symptoms may include: Double vision Emotional changes Headache Hormonal changes Loss of hearing, speech and/or vision Nausea Seizures. Brain Tumor Diagnostic Tests If a brain tumor doctor sees sufficient evidence of a brain tumor during the initial examination, further diagnostic tests can confirm the existence of tumor cells. Doctors use several techniques to det

Secondary brain tumors develop when cancer originates in other organs or tissues and spreads to the brain. These secondary, or metastatic, tumors are more common than primary brain tumors, which originate in the brain or surrounding tissues. A secondary brain tumor may be the first sign of cancer that began elsewhere in the body, or a patient with a history of cancer may be diagnosed with the secondary brain tumor after their initial diagnosis. Types of Secondary Brain Tumors Secondary brain tumors can originate from primary cancer present anywhere in the body. Some of the most common types of cancer to metastasize to the brain are: Bladder Breast Colon Kidney Lung Melanoma (skin cancer) Neuroblastoma (cancer of the sympathetic nervous system, such as the adrenal glands) Sarcoma (cancer of the connective tissue cells). Detection and Diagnosis of Secondary Brain Tumors A secondary brain tumor is usually discovered when a person experiences new b

Brain tumor clinical trials are research studies to determine the effectiveness of experimental brain tumor treatments. Brain tumor trials usually evaluate new chemotherapy, radiation and biological (immune system) therapies, and may offer patients who haven't had success with traditional therapies a new type of treatment. Clinical trials can be conducted by a variety of groups, including: Hospitals Pharmaceutical companies Physicians Research organizations. Clinical Trial Phases Investigational pharmaceutical drug clinical trials follow a specific protocol and are divided into three phases. Clinical research of a new drug will pass through these three phases, each of which generally represents a separate clinical trial: Phase I : Assesses the safety and correct dosage of a new drug. What are the side effects and safe dosages for this drug? Phase II : Determines the effectiveness of the therapy. Does this treatment shrink the brain tumor and increase survival rat

Chemotherapy and radiation are two protocols used in brain tumor treatment plans. In chemotherapy, drugs are taken orally or injected, with the aim of destroying tumor cells in the body. While it can be very effective for other cancers, chemotherapy is not the primary treatment of choice for patients with brain tumors. Radiation treatment is widely used as a brain tumor treatment, and works by focusing external radiation beams at the tumor cells. Chemotherapy and radiation treatments are usually used in combination with other types of brain tumor treatments to ensure success in eliminating tumor cells. Chemotherapy Chemotherapy works to destroy tumor cells by interrupting the cell division process. The drug is either ingested or injected in cycles, giving the patient time off between each dose and allowing the chemotherapy drug time to perform its job. Usually, the patient receives the drug, and then waits four to six weeks before the next treatment. However, because brain tu