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causes | What causes Causes of Diabetes ? | Type 2 diabetesthe most common form of diabetesis caused by a combination of factors, including insulin resistance, a condition in which the bodys muscle, fat, and liver cells do not use insulin effectively. Type 2 diabetes develops when the body can no longer produce enough insulin to compensate for the impaired ability to use insulin. Symptoms of type 2 diabetes may develop gradually and can be subtle; some people with type 2 diabetes remain undiagnosed for years.
Type 2 diabetes develops most often in middle-aged and older people who are also overweight or obese. The disease, once rare in youth, is becoming more common in overweight and obese children and adolescents. Scientists think genetic susceptibility and environmental factors are the most likely triggers of type 2 diabetes.
Genetic Susceptibility
Genes play a significant part in susceptibility to type 2 diabetes. Having certain genes or combinations of genes may increase or decrease a persons risk for developing the disease. The role of genes is suggested by the high rate of type 2 diabetes in families and identical twins and wide variations in diabetes prevalence by ethnicity. Type 2 diabetes occurs more frequently in African Americans, Alaska Natives, American Indians, Hispanics/Latinos, and some Asian Americans, Native Hawaiians, and Pacific Islander Americans than it does in non-Hispanic whites.
Recent studies have combined genetic data from large numbers of people, accelerating the pace of gene discovery. Though scientists have now identified many gene variants that increase susceptibility to type 2 diabetes, the majority have yet to be discovered. The known genes appear to affect insulin production rather than insulin resistance. Researchers are working to identify additional gene variants and to learn how they interact with one another and with environmental factors to cause diabetes.
Studies have shown that variants of the TCF7L2 gene increase susceptibility to type 2 diabetes. For people who inherit two copies of the variants, the risk of developing type 2 diabetes is about 80 percent higher than for those who do not carry the gene variant.1 However, even in those with the variant, diet and physical activity leading to weight loss help delay diabetes, according to the Diabetes Prevention Program (DPP), a major clinical trial involving people at high risk.
Genes can also increase the risk of diabetes by increasing a persons tendency to become overweight or obese. One theory, known as the thrifty gene hypothesis, suggests certain genes increase the efficiency of metabolism to extract energy from food and store the energy for later use. This survival trait was advantageous for populations whose food supplies were scarce or unpredictable and could help keep people alive during famine. In modern times, however, when high-calorie foods are plentiful, such a trait can promote obesity and type 2 diabetes.
Obesity and Physical Inactivity
Physical inactivity and obesity are strongly associated with the development of type 2 diabetes. People who are genetically susceptible to type 2 diabetes are more vulnerable when these risk factors are present.
An imbalance between caloric intake and physical activity can lead to obesity, which causes insulin resistance and is common in people with type 2 diabetes. Central obesity, in which a person has excess abdominal fat, is a major risk factor not only for insulin resistance and type 2 diabetes but also for heart and blood vessel disease, also called cardiovascular disease (CVD). This excess belly fat produces hormones and other substances that can cause harmful, chronic effects in the body such as damage to blood vessels.
The DPP and other studies show that millions of people can lower their risk for type 2 diabetes by making lifestyle changes and losing weight. The DPP proved that people with prediabetesat high risk of developing type 2 diabetescould sharply lower their risk by losing weight through regular physical activity and a diet low in fat and calories. In 2009, a follow-up study of DPP participantsthe Diabetes Prevention Program Outcomes Study (DPPOS)showed that the benefits of weight loss lasted for at least 10 years after the original study began.2
Read more about the DPP, funded under National Institutes of Health (NIH) clinical trial number NCT00004992, and the DPPOS, funded under NIH clinical trial number NCT00038727 in Diabetes Prevention Program.
Insulin Resistance
Insulin resistance is a common condition in people who are overweight or obese, have excess abdominal fat, and are not physically active. Muscle, fat, and liver cells stop responding properly to insulin, forcing the pancreas to compensate by producing extra insulin. As long as beta cells are able to produce enough insulin, blood glucose levels stay in the normal range. But when insulin production falters because of beta cell dysfunction, glucose levels rise, leading to prediabetes or diabetes.
Abnormal Glucose Production by the Liver
In some people with diabetes, an abnormal increase in glucose production by the liver also contributes to high blood glucose levels. Normally, the pancreas releases the hormone glucagon when blood glucose and insulin levels are low. Glucagon stimulates the liver to produce glucose and release it into the bloodstream. But when blood glucose and insulin levels are high after a meal, glucagon levels drop, and the liver stores excess glucose for later, when it is needed. For reasons not completely understood, in many people with diabetes, glucagon levels stay higher than needed. High glucagon levels cause the liver to produce unneeded glucose, which contributes to high blood glucose levels. Metformin, the most commonly used drug to treat type 2 diabetes, reduces glucose production by the liver.
The Roles of Insulin and Glucagon in Normal Blood Glucose Regulation
A healthy persons body keeps blood glucose levels in a normal range through several complex mechanisms. Insulin and glucagon, two hormones made in the pancreas, help regulate blood glucose levels:
- Insulin, made by beta cells, lowers elevated blood glucose levels. - Glucagon, made by alpha cells, raises low blood glucose levels.
- Insulin helps muscle, fat, and liver cells absorb glucose from the bloodstream, lowering blood glucose levels. - Insulin stimulates the liver and muscle tissue to store excess glucose. The stored form of glucose is called glycogen. - Insulin also lowers blood glucose levels by reducing glucose production in the liver.
- Glucagon signals the liver and muscle tissue to break down glycogen into glucose, which enters the bloodstream and raises blood glucose levels. - If the body needs more glucose, glucagon stimulates the liver to make glucose from amino acids.
Metabolic Syndrome
Metabolic syndrome, also called insulin resistance syndrome, refers to a group of conditions common in people with insulin resistance, including
- higher than normal blood glucose levels - increased waist size due to excess abdominal fat - high blood pressure - abnormal levels of cholesterol and triglycerides in the blood
Cell Signaling and Regulation
Cells communicate through a complex network of molecular signaling pathways. For example, on cell surfaces, insulin receptor molecules capture, or bind, insulin molecules circulating in the bloodstream. This interaction between insulin and its receptor prompts the biochemical signals that enable the cells to absorb glucose from the blood and use it for energy.
Problems in cell signaling systems can set off a chain reaction that leads to diabetes or other diseases. Many studies have focused on how insulin signals cells to communicate and regulate action. Researchers have identified proteins and pathways that transmit the insulin signal and have mapped interactions between insulin and body tissues, including the way insulin helps the liver control blood glucose levels. Researchers have also found that key signals also come from fat cells, which produce substances that cause inflammation and insulin resistance.
This work holds the key to combating insulin resistance and diabetes. As scientists learn more about cell signaling systems involved in glucose regulation, they will have more opportunities to develop effective treatments.
Beta Cell Dysfunction
Scientists think beta cell dysfunction is a key contributor to type 2 diabetes. Beta cell impairment can cause inadequate or abnormal patterns of insulin release. Also, beta cells may be damaged by high blood glucose itself, a condition called glucose toxicity.
Scientists have not determined the causes of beta cell dysfunction in most cases. Single gene defects lead to specific forms of diabetes called maturity-onset diabetes of the young (MODY). The genes involved regulate insulin production in the beta cells. Although these forms of diabetes are rare, they provide clues as to how beta cell function may be affected by key regulatory factors. Other gene variants are involved in determining the number and function of beta cells. But these variants account for only a small percentage of type 2 diabetes cases. Malnutrition early in life is also being investigated as a cause of beta cell dysfunction. The metabolic environment of the developing fetus may also create a predisposition for diabetes later in life.
Risk Factors for Type 2 Diabetes
People who develop type 2 diabetes are more likely to have the following characteristics:
- age 45 or older - overweight or obese - physically inactive - parent or sibling with diabetes - family background that is African American, Alaska Native, American Indian, Asian American, Hispanic/Latino, or Pacific Islander American - history of giving birth to a baby weighing more than 9 pounds - history of gestational diabetes - high blood pressure140/90 or aboveor being treated for high blood pressure - high-density lipoprotein (HDL), or good, cholesterol below 35 milligrams per deciliter (mg/dL), or a triglyceride level above 250 mg/dL - polycystic ovary syndrome, also called PCOS - prediabetesan A1C level of 5.7 to 6.4 percent; a fasting plasma glucose test result of 100125 mg/dL, called impaired fasting glucose; or a 2-hour oral glucose tolerance test result of 140199, called impaired glucose tolerance - acanthosis nigricans, a condition associated with insulin resistance, characterized by a dark, velvety rash around the neck or armpits - history of CVD
The American Diabetes Association (ADA) recommends that testing to detect prediabetes and type 2 diabetes be considered in adults who are overweight or obese and have one or more additional risk factors for diabetes. In adults without these risk factors, testing should begin at age 45. |
inheritance | Is Huntington disease inherited ? | How is Huntington disease inherited? Huntington disease (HD) is inherited in an autosomal dominant manner. This means that having a change (mutation) in only one of the 2 copies of the HTT gene is enough to cause the condition. When a person with HD has children, each child has a 50% (1 in 2) chance to inherit the mutated gene and develop the condition. Most people with HD have an affected parent. The family history can sometimes appear negative for various reasons even though a parent carries, or carried, a mutation in the HTT gene. In rare cases, HD is caused by a new (de novo) mutation in the HTT gene, in which case the disease occurs for the first time in the affected person and is not inherited from a parent. As HD is passed through generations, the size of the mutation in the HTT gene (called a trinucleotide repeat) often increases. A longer repeat in the HTT gene may cause earlier onset of symptoms. This phenomenon is called anticipation. |
inheritance | Is neuromyelitis optica inherited ? | Neuromyelitis optica is usually not inherited. Rarely, this condition is passed through generations in families, but the inheritance pattern is unknown. |
symptoms | What are the symptoms of Cerebral gigantism jaw cysts ? | What are the signs and symptoms of Cerebral gigantism jaw cysts? The Human Phenotype Ontology provides the following list of signs and symptoms for Cerebral gigantism jaw cysts. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Accelerated skeletal maturation 90% Bone cyst 90% Cerebral calcification 90% EEG abnormality 90% Macrocephaly 90% Tall stature 90% Incoordination 50% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
symptoms | What are the symptoms of Oculoectodermal syndrome ? | What are the signs and symptoms of Oculoectodermal syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Oculoectodermal syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Aplasia/Hypoplasia of the corpus callosum 90% Aplasia/Hypoplasia of the skin 90% Epibulbar dermoid 90% Generalized hyperpigmentation 90% Abnormality of the cardiovascular system 50% Aganglionic megacolon 50% Anteverted nares 50% Blepharophimosis 50% Brachydactyly syndrome 50% Epicanthus 50% Hearing abnormality 50% Laryngeal atresia 50% Macrocephaly 50% Muscular hypotonia 50% Polyhydramnios 50% Proptosis 50% Short nose 50% Strabismus 50% Telecanthus 50% Abnormal facial shape 7.5% Cleft eyelid 7.5% Displacement of the external urethral meatus 7.5% Arachnoid cyst 5% Astigmatism 5% Depressed nasal bridge 5% Opacification of the corneal stroma 5% Parietal bossing 5% Wide nasal bridge 5% Anisometropia - Aplasia cutis congenita - Autosomal dominant inheritance - Bladder exstrophy - Coarctation of aorta - Epidermal nevus - Growth delay - Hyperactivity - Hyperpigmentation of the skin - Lower limb asymmetry - Lymphedema - Phenotypic variability - Seizures - Transient ischemic attack - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
information | What is (are) Tubular aggregate myopathy ? | Tubular aggregate myopathy is a very rare muscle disease where the presence of tubular aggregates represent the major, if not sole, pathologic change in the muscle cell. It is often characterized by muscle weakness or stiffness, cramps, and exercise induced muscle fatigue. The exact cause of the condition is unknown. Sporadic and genetic forms have been reported. Some cases appear to be due to dominant mutations in the STIM1 gene. |
symptoms | What are the symptoms of Cardiogenic Shock ? | A lack of oxygen-rich blood reaching the brain, kidneys, skin, and other parts of the body causes the signs and symptoms of cardiogenic shock.
Some of the typical signs and symptoms of shock usually include at least two or more of the following:
Confusion or lack of alertness
Loss of consciousness
A sudden and ongoing rapid heartbeat
Sweating
Pale skin
A weak pulse
Rapid breathing
Decreased or no urine output
Cool hands and feet
Any of these alone is unlikely to be a sign or symptom of shock.
If you or someone else is having these signs and symptoms, call 911 right away for emergency treatment. Prompt medical care can save your life and prevent or limit organ damage. |
information | What is (are) Financial Help for Diabetes Care ? | Medicaid is a state health insurance program for those with low incomes and few assets. Each state runs its own program. The Federal Government requires that Medicaid programs cover a specific set of services; however, states can choose to cover more services in addition to the ones required. A person may have Medicaid alone or Medicare and Medicaid. If a person has both types of coverage, Medicare pays first and Medicaid pays second. Medicaid may pay for things Medicare does not. A person can apply for Medicaid at a city or county department of social services office. The state medical assistance (Medicaid) office can help people find out whether they qualify for Medicaid and can provide more information about Medicaid programs. A social worker can also explain a states Medicaid program and help a person apply.
To contact a state Medicaid office, people can
- search for Medicaid information for a state at www.medicaid.gov or call 18772672323 - search online or check the government pages of the phone book for the local department of human services or department of social services
CHIP gives free or low-cost Medicaid to children whose parents earn too much for Medicaid, though not enough to pay for a health plan. CHIP may also provide assistance to parents. CHIP is a federal and state program. Read more at www.insurekidsnow.gov or call 18775437669. |
symptoms | What are the symptoms of Familial hemiplegic migraine type 2 ? | What are the signs and symptoms of Familial hemiplegic migraine type 2? The symptoms and severity can vary considerably among people with hemiplegic migraine. Signs and symptoms associated with aura may include: Visual disturbance (e.g. blind spots, flashing lights, zigzag pattern, and double vision) Sensory loss (e.g., numbness or paresthesias of the face or an extremity) Difficulty with speech (which usually occur along with right-sided weakness) Motor weakness involves areas affected by sensory symptoms and varies from mild clumsiness to complete deficit. Affected people may also experience neurologic symptoms such as confusion, drowsiness, impaired consciousness, coma, psychosis, and/or memory loss. Neurologic symptoms can last for hours to days. Attention and memory loss can last weeks to months. However, permanent motor, sensory, language, or visual symptoms are extremely rare. The Human Phenotype Ontology provides the following list of signs and symptoms for Familial hemiplegic migraine type 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of movement 90% Hemiplegia/hemiparesis 90% Incoordination 50% Nystagmus 50% Abnormality of retinal pigmentation 7.5% EEG abnormality 7.5% Neurological speech impairment 7.5% Sensorineural hearing impairment 7.5% Aphasia - Apraxia - Autosomal dominant inheritance - Blurred vision - Coma - Confusion - Diplopia - Drowsiness - Dysarthria - Dysphasia - Episodic ataxia - Fever - Hemiparesis - Hemiplegia - Incomplete penetrance - Intellectual disability - Migraine with aura - Seizures - Transient unilateral blurring of vision - Vertigo - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
treatment | What are the treatments for spinocerebellar ataxia type 36 ? | These resources address the diagnosis or management of spinocerebellar ataxia type 36: - Ataxia Center at the University of Minnesota: Dominant Spinocerebellar Ataxias - Baylor College of Medicine: Parkinson's Disease Center and Movement Disorders Clinic: Ataxia - Gene Review: Gene Review: Spinocerebellar Ataxia Type 36 - Genetic Testing Registry: Spinocerebellar ataxia 36 - Johns Hopkins Medicine: Ataxia - The Ataxia Center at the University of Chicago: Autosomal Dominant Spinocerebellar Ataxia These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care |
information | What is (are) chordoma ? | A chordoma is a rare type of cancerous tumor that can occur anywhere along the spine, from the base of the skull to the tailbone. Chordomas grow slowly, gradually extending into the bone and soft tissue around them. They often recur after treatment, and in about 40 percent of cases the cancer spreads (metastasizes) to other areas of the body, such as the lungs. Approximately half of all chordomas occur at the base of the spine (sacrum), about one third occur in the base of the skull (occiput), and the rest occur in the cervical (neck), thoracic (upper back), or lumbar (lower back) vertebrae of the spine. As the chordoma grows, it puts pressure on the adjacent areas of the brain or spinal cord, leading to the signs and symptoms of the disorder. A chordoma anywhere along the spine may cause pain, weakness, or numbness in the back, arms, or legs. A chordoma at the base of the skull (occipital chordoma) may lead to double vision (diplopia) and headaches. A chordoma that occurs in the tailbone (coccygeal chordoma) may result in a lump large enough to be felt through the skin and may cause problems with bladder or bowel function. Chordomas typically occur in adults between ages 40 and 70. About 5 percent of chordomas are diagnosed in children. For reasons that are unclear, males are affected about twice as often as females. |
causes | What causes Problems with Smell ? | Most people who have a problem with smell have recently had an illness or injury. The most common causes are upper respiratory infections, such as the common cold, and chronic sinus or nasal disease. Other common causes are - aging - smoking - nasal polyps - head injury - allergens such as ragweed, grasses, and pet dander - hormonal disturbances - dental problems - exposure to certain chemicals such as insecticides or solvents - medications such as antibiotics or antihistamines - radiation for treatment of head and neck cancers - diseases of the nervous system such as Parkinsons disease or Alzheimers disease. aging smoking nasal polyps head injury allergens such as ragweed, grasses, and pet dander hormonal disturbances dental problems exposure to certain chemicals such as insecticides or solvents medications such as antibiotics or antihistamines radiation for treatment of head and neck cancers diseases of the nervous system such as Parkinsons disease or Alzheimers disease. |
outlook | What is the outlook for Kuru ? | Similar to other the TSEs, kuru had a long incubation period; it was years or even decades before an infected person showed symptoms. Because kuru mainly affected the cerebellum, which is responsible for coordination, the usual first symptoms were an unsteady gait, tremors, and slurred speech. (Kuru is the Fore word for shiver.) Unlike most of the other TSEs, dementia was either minimal or absent. Mood changes were often present. Eventually, individuals became unable to stand or eat, and they died in a comatose state from 6 to 12 months after the first appearance of symptoms. |
frequency | How many people are affected by Emanuel syndrome ? | Emanuel syndrome is a rare disorder; its prevalence is unknown. More than 100 individuals with this condition have been reported. |
treatment | What are the treatments for X-linked myotubular myopathy ? | These resources address the diagnosis or management of X-linked myotubular myopathy: - Gene Review: Gene Review: X-Linked Centronuclear Myopathy - Genetic Testing Registry: Severe X-linked myotubular myopathy These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care |
causes | What causes Wildervanck syndrome ? | What causes Wildervanck syndrome? The exact cause of Wildervanck syndrome is not known. It is suspected to be a polygenic condition, meaning that many genetic factors may be involved. |
information | What is (are) Vasculitis ? | Vasculitis (vas-kyu-LI-tis) is a condition that involves inflammation in the blood vessels. The condition occurs if your immune system attacks your blood vessels by mistake. This may happen as the result of an infection, a medicine, or another disease or condition.
Inflammation refers to the bodys response to injury, including injury to the blood vessels. Inflammation may involve pain, redness, warmth, swelling, and loss of function in the affected tissues.
In vasculitis, inflammation can lead to serious problems. Complications depend on which blood vessels, organs, or other body systems are affected.
Overview
Vasculitis can affect any of the body's blood vessels. These include arteries, veins, and capillaries. Arteries carry blood from your heart to your body's organs. Veins carry blood from your organs and limbs back to your heart. Capillaries connect the small arteries and veins.
If a blood vessel is inflamed, it can narrow or close off. This limits or prevents blood flow through the vessel. Rarely, the blood vessel will stretch and weaken, causing it to bulge. This bulge is known as an aneurysm (AN-u-rism).
Vasculitis
The disruption in blood flow caused by inflammation can damage the body's organs. Signs and symptoms depend on which organs have been damaged and the extent of the damage.
Typical symptoms of inflammation, such as fever and general aches and pains, are common among people who have vasculitis.
Outlook
There are many types of vasculitis, but overall the condition is rare. If you have vasculitis, the outlook depends on:
The type of vasculitis you have
Which organs are affected
How quickly the condition worsens
The severity of the condition
Treatment often works well if its started early. In some cases, vasculitis may go into remission. "Remission" means the condition isn't active, but it can come back, or "flare," at any time.
Sometimes vasculitis is chronic (ongoing) and never goes into remission. Long-term treatment with medicines often can control the signs and symptoms of chronic vasculitis.
Rarely, vasculitis doesn't respond well to treatment. This can lead to disability and even death.
Much is still unknown about vasculitis. However, researchers continue to learn more about the condition and its various types, causes, and treatments. |
information | What is (are) CASK-related intellectual disability ? | CASK-related intellectual disability is a disorder of brain development that has two main forms: microcephaly with pontine and cerebellar hypoplasia (MICPCH), and X-linked intellectual disability (XL-ID) with or without nystagmus. Within each of these forms, males typically have more severe signs and symptoms than do females; the more severe MICPCH mostly affects females, likely because only a small number of males survive to birth. People with MICPCH often have an unusually small head at birth, and the head does not grow at the same rate as the rest of the body, so it appears that the head is getting smaller as the body grows (progressive microcephaly). Individuals with this condition have underdevelopment (hypoplasia) of areas of the brain called the cerebellum and the pons. The cerebellum is the part of the brain that coordinates movement. The pons is located at the base of the brain in an area called the brainstem, where it transmits signals from the cerebellum to the rest of the brain. Individuals with MICPCH have intellectual disability that is usually severe. They may have sleep disturbances and exhibit self-biting, hand flapping, or other abnormal repetitive behaviors. Seizures are also common in this form of the disorder. People with MICPCH do not usually develop language skills, and most do not learn to walk. They have hearing loss caused by nerve problems in the inner ear (sensorineural hearing loss), and most also have abnormalities affecting the eyes. These abnormalities include underdevelopment of the nerves that carry information from the eyes to the brain (optic nerve hypoplasia), breakdown of the light-sensing tissue at the back of the eyes (retinopathy), and eyes that do not look in the same direction (strabismus). Characteristic facial features may include arched eyebrows; a short, broad nose; a lengthened area between the nose and mouth (philtrum); a protruding upper jaw (maxilla); a short chin; and large ears. Individuals with MICPCH may have weak muscle tone (hypotonia) in the torso along with increased muscle tone (hypertonia) and stiffness (spasticity) in the limbs. Movement problems such as involuntary tensing of various muscles (dystonia) may also occur in this form of the disorder. XL-ID with or without nystagmus (rapid, involuntary eye movements) is a milder form of CASK-related intellectual disability. The intellectual disability in this form of the disorder can range from mild to severe; some affected females have normal intelligence. About half of affected individuals have nystagmus. Seizures and rhythmic shaking (tremors) may also occur in this form. |
frequency | How many people are affected by neurohypophyseal diabetes insipidus ? | Neurohypophyseal diabetes insipidus is thought to be rare, although its exact incidence is unknown. The acquired form occurs much more frequently than the familial form. |
frequency | How many people are affected by Amish lethal microcephaly ? | Amish lethal microcephaly occurs in approximately 1 in 500 newborns in the Old Order Amish population of Pennsylvania. It has not been found outside this population. |
research | what research (or clinical trials) is being done for Agenesis of the Corpus Callosum ? | The mission of the National Institute of Neurological Disorders and Stroke (NINDS) is to seek fundamental knowledge about the brain and nervous system and to use that knowledge to reduce the burden of neurological disease. The NINDS conducts and supports a wide range of studies that explore the complex mechanisms of normal brain development. NINDS-funded research includes studies to understand the genetic causes of ACC, as well as to understand how magnetic resonance imaging findings may help predict outcome and response to therapy. |
symptoms | What are the symptoms of Zunich neuroectodermal syndrome ? | What are the signs and symptoms of Zunich neuroectodermal syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Zunich neuroectodermal syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal dermatoglyphics 90% Abnormality of calvarial morphology 90% Aplasia/Hypoplasia of the nipples 90% Chorioretinal coloboma 90% Cognitive impairment 90% Depressed nasal ridge 90% Epicanthus 90% External ear malformation 90% Hearing impairment 90% Hypertelorism 90% Ichthyosis 90% Microdontia 90% Ptosis 90% Reduced number of teeth 90% Short philtrum 90% Strabismus 90% Tall stature 90% Thick lower lip vermilion 90% Abnormality of epiphysis morphology 50% Abnormality of the clavicle 50% Abnormality of the pulmonary valve 50% Adactyly 50% Brachydactyly syndrome 50% Cleft palate 50% Increased number of teeth 50% Opacification of the corneal stroma 50% Seizures 50% Short toe 50% Tetralogy of Fallot 50% Transposition of the great arteries 50% Upslanted palpebral fissure 50% Abnormal hair quantity 7.5% Abnormality of the hip bone 7.5% Abnormality of the kidney 7.5% Acute leukemia 7.5% Autism 7.5% Cerebral cortical atrophy 7.5% Clubbing of toes 7.5% Fine hair 7.5% Hyperkeratosis 7.5% Osteolysis 7.5% Skin ulcer 7.5% Ventricular septal defect 7.5% Acute lymphoblastic leukemia - Autosomal recessive inheritance - Brachycephaly - Broad-based gait - Cerebral atrophy - Clinodactyly of the 5th finger - Conductive hearing impairment - Duplicated collecting system - Frontal bossing - Hydronephrosis - Hypoplastic nipples - Intellectual disability - Joint contracture of the hand - Large for gestational age - Large hands - Long foot - Low-set nipples - Muscular hypotonia - Overfolded helix - Palmoplantar hyperkeratosis - Peripheral pulmonary artery stenosis - Prominent forehead - Retinal coloboma - Sparse hair - Ureteropelvic junction obstruction - Violent behavior - Webbed neck - Wide mouth - Wide nasal bridge - Widely spaced teeth - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
symptoms | What are the symptoms of Ulcerative Colitis ? | The most common signs and symptoms of ulcerative colitis are diarrhea with blood or pus and abdominal discomfort. Other signs and symptoms include
- an urgent need to have a bowel movement - feeling tired - nausea or loss of appetite - weight loss - fever - anemiaa condition in which the body has fewer red blood cells than normal
Less common symptoms include
- joint pain or soreness - eye irritation - certain rashes
The symptoms a person experiences can vary depending on the severity of the inflammation and where it occurs in the intestine. When symptoms first appear,
- most people with ulcerative colitis have mild to moderate symptoms - about 10 percent of people can have severe symptoms, such as frequent, bloody bowel movements; fevers; and severe abdominal cramping1 |
treatment | What are the treatments for carnitine palmitoyltransferase II deficiency ? | These resources address the diagnosis or management of CPT II deficiency: - Baby's First Test - FOD (Fatty Oxidation Disorders) Family Support Group: Diagnostic Approach to Disorders of Fat Oxidation - Information for Clinicians - Gene Review: Gene Review: Carnitine Palmitoyltransferase II Deficiency - Genetic Testing Registry: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET - Genetic Testing Registry: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL - Genetic Testing Registry: Carnitine palmitoyltransferase II deficiency - Genetic Testing Registry: Carnitine palmitoyltransferase II deficiency, infantile These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care |
information | What is (are) Holt-Oram syndrome ? | Holt-Oram syndrome is a genetic condition characterized by skeletal abnormalities of the hands and arms (upper limbs) and heart problems. Affected people have at least one bone abnormality in the wrist, many of which can be detected only by X-ray. Additional skeletal abnormalities may also be present. About 75% of affected people have heart problems, including congenital heart defects and/or cardiac conduction disease (an abnormality in the electrical system that coordinates contractions of the heart chambers). Holt-Oram syndrome is caused by mutations in the TBX5 gene and is inherited in an autosomal dominant manner. Most cases result from new mutations in the gene and occur in people with no family history of the condition. |
information | What is (are) facioscapulohumeral muscular dystrophy ? | Facioscapulohumeral muscular dystrophy is a disorder characterized by muscle weakness and wasting (atrophy). This condition gets its name from the muscles that are affected most often: those of the face (facio-), around the shoulder blades (scapulo-), and in the upper arms (humeral). The signs and symptoms of facioscapulohumeral muscular dystrophy usually appear in adolescence. However, the onset and severity of the condition varies widely. Milder cases may not become noticeable until later in life, whereas rare severe cases become apparent in infancy or early childhood. Weakness involving the facial muscles or shoulders is usually the first symptom of this condition. Facial muscle weakness often makes it difficult to drink from a straw, whistle, or turn up the corners of the mouth when smiling. Weakness in muscles around the eyes can prevent the eyes from closing fully while a person is asleep, which can lead to dry eyes and other eye problems. For reasons that are unclear, weakness may be more severe in one side of the face than the other. Weak shoulder muscles tend to make the shoulder blades (scapulae) protrude from the back, a common sign known as scapular winging. Weakness in muscles of the shoulders and upper arms can make it difficult to raise the arms over the head or throw a ball. The muscle weakness associated with facioscapulohumeral muscular dystrophy worsens slowly over decades and may spread to other parts of the body. Weakness in muscles of the lower legs can lead to a condition called foot drop, which affects walking and increases the risk of falls. Muscular weakness in the hips and pelvis can make it difficult to climb stairs or walk long distances. Additionally, affected individuals may have an exaggerated curvature of the lower back (lordosis) due to weak abdominal muscles. About 20 percent of affected individuals eventually require the use of a wheelchair. Additional signs and symptoms of facioscapulohumeral muscular dystrophy can include mild high-tone hearing loss and abnormalities involving the light-sensitive tissue at the back of the eye (the retina). These signs are often not noticeable and may be discovered only during medical testing. Rarely, facioscapulohumeral muscular dystrophy affects the heart (cardiac) muscle or muscles needed for breathing. Researchers have described two types of facioscapulohumeral muscular dystrophy: type 1 (FSHD1) and type 2 (FSHD2). The two types have the same signs and symptoms and are distinguished by their genetic cause. |
frequency | How many people are affected by Pallister-Hall syndrome ? | This condition is very rare; its prevalence is unknown. |
research | what research (or clinical trials) is being done for Chronic Inflammatory Demyelinating Polyneuropathy (CIDP) ? | The NINDS supports a broad program of research on disorders of the nervous system, including CIDP. Much of this research is aimed at increasing the understanding of these disorders and finding ways to prevent, treat, and cure them. |
inheritance | Is juvenile primary lateral sclerosis inherited ? | When caused by mutations in the ALS2 gene, juvenile primary lateral sclerosis 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. |
genetic changes | What are the genetic changes related to CASK-related intellectual disability ? | CASK-related intellectual disability, as its name suggests, is caused by mutations in the CASK gene. This gene provides instructions for making a protein called calcium/calmodulin-dependent serine protein kinase (CASK). The CASK protein is primarily found in nerve cells (neurons) in the brain, where it helps control the activity (expression) of other genes that are involved in brain development. It also helps regulate the movement of chemicals called neurotransmitters and of charged atoms (ions), which are necessary for signaling between neurons. Research suggests that the CASK protein may also interact with the protein produced from another gene, FRMD7, to promote development of the nerves that control eye movement (the oculomotor neural network). Mutations in the CASK gene affect the role of the CASK protein in brain development and function, resulting in the signs and symptoms of CASK-related intellectual disability. The severe form of this disorder, MICPCH, is caused by mutations that eliminate CASK function, while mutations that impair the function of this protein cause the milder form, XL-ID with or without nystagmus. Affected individuals with nystagmus may have CASK gene mutations that disrupt the interaction between the CASK protein and the protein produced from the FRMD7 gene, leading to problems with the development of the oculomotor neural network and resulting in abnormal eye movements. |
information | What is (are) Usher syndrome, type 1C ? | Usher syndrome is a genetic condition characterized by hearing loss or deafness, and progressive vision loss due to retinitis pigmentosa. Three major types of Usher syndrome have been described - types I, II, and III. The different types are distinguished by their severity and the age when signs and symptoms appear. All three types are inherited in an autosomal recessive manner, which means both copies of the disease-causing gene in each cell have mutations. |
frequency | How many people are affected by progressive familial intrahepatic cholestasis ? | PFIC is estimated to affect 1 in 50,000 to 100,000 people worldwide. PFIC type 1 is much more common in the Inuit population of Greenland and the Old Order Amish population of the United States. |
information | What is (are) Blastomycosis ? | Blastomycosis is a rare infection that may develop when people inhale a fungus called Blastomyces dermatitidis, a fungus that is found in moist soil, particularly where there is rotting vegetation. The fungus enters the body through the lungs, infecting them. The fungus then spreads to other areas of the body. The infection may affect the skin, bones and joints, and other areas. The disease usually affects people with weakened immune systems, such as those with HIV or who have had an organ transplant. |
causes | What causes Congenital Heart Defects ? | If your child has a congenital heart defect, you may think you did something wrong during your pregnancy to cause the problem. However, doctors often don't know why congenital heart defects occur.
Heredity may play a role in some heart defects. For example, a parent who has a congenital heart defect may be more likely than other people to have a child with the defect. Rarely, more than one child in a family is born with a heart defect.
Children who have genetic disorders, such as Down syndrome, often have congenital heart defects. In fact, half of all babies who have Down syndrome have congenital heart defects.
Smoking during pregnancy also has been linked to several congenital heart defects, including septal defects.
Researchers continue to search for the causes of congenital heart defects. |
treatment | What are the treatments for Atherosclerosis ? | Treatments for atherosclerosis may include heart-healthy lifestyle changes, medicines, and medical procedures or surgery. The goals of treatment include:
Lowering the risk of blood clots forming
Preventing atherosclerosis-related diseases
Reducing risk factors in an effort to slow or stop the buildup of plaque
Relieving symptoms
Widening or bypassing plaque-clogged arteries
Heart-Healthy Lifestyle Changes
Your doctor may recommend heart-healthy lifestyle changes if you have atherosclerosis. Heart-healthy lifestyle changes include heart-healthy eating, maintaining a healthy weight, managing stress, physical activity and quitting smoking.
Heart-Healthy Eating
Your doctor may recommend heart-healthy eating, which should include:
Fat-free or low-fat dairy products, such as skim milk
Fish high in omega-3 fatty acids, such as salmon, tuna, and trout, about twice a week
Fruits, such as apples, bananas, oranges, pears, and prunes
Legumes, such as kidney beans, lentils, chickpeas, black-eyed peas, and lima beans
Vegetables, such as broccoli, cabbage, and carrots
Whole grains, such as oatmeal, brown rice, and corn tortillas
When following a heart-healthy diet, you should avoid eating:
A lot of red meat
Palm and coconut oils
Sugary foods and beverages
Two nutrients in your diet make blood cholesterol levels rise:
Saturated fatfound mostly in foods that come from animals
Trans fat (trans fatty acids)found in foods made with hydrogenated oils and fats, such as stick margarine; baked goods, such as cookies, cakes, and pies; crackers; frostings; and coffee creamers. Some trans fats also occur naturally in animal fats and meats.
Saturated fat raises your blood cholesterol more than anything else in your diet. When you follow a heart-healthy eating plan, only 5 percent to 6 percent of your daily calories should come from saturated fat. Food labels list the amounts of saturated fat. To help you stay on track, here are some examples:
1,200 calories a day
8 grams of saturated fat a day
1,500 calories a day
10 grams of saturated fat a day
1,800 calories a day
12 grams of saturated fat a day
2,000 calories a day
13 grams of saturated fat a day
2,500 calories a day
17 grams of saturated fat a day
Not all fats are bad. Monounsaturated and polyunsaturated fats actually help lower blood cholesterol levels. Some sources of monounsaturated and polyunsaturated fats are:
Avocados
Corn, sunflower, and soybean oils
Nuts and seeds, such as walnuts
Olive, canola, peanut, safflower, and sesame oils
Peanut butter
Salmon and trout
Tofu
Sodium
You should try to limit the amount of sodium that you eat. This means choosing and preparing foods that are lower in salt and sodium. Try to use low-sodium and no added salt foods and seasonings at the table or while cooking. Food labels tell you what you need to know about choosing foods that are lower in sodium. Try to eat no more than 2,300 milligrams of sodium a day. If you have high blood pressure, you may need to restrict your sodium intake even more.
Dietary Approaches to Stop Hypertension
Your doctor may recommend the Dietary Approaches to Stop Hypertension (DASH) eating plan if you have high blood pressure. The DASH eating plan focuses on fruits, vegetables, whole grains, and other foods that are heart healthy and low in fat, cholesterol, and sodium and salt.
The DASH eating plan is a good heart-healthy eating plan, even for those who dont have high blood pressure. Read more about DASH.
Alcohol
Try to limit alcohol intake. Too much alcohol will raise your blood pressure and triglyceride levels, a type of fat found in the blood. Alcohol also adds extra calories, which may cause weight gain.
Men should have no more than two drinks containing alcohol a day. Women should have no more than one drink containing alcohol a day. One drink is:
12 ounces of beer
5 ounces of wine
1 ounces of liquor
Maintaining a Healthy Weight
Maintaining a healthy weight is important for overall health and can lower your risk for coronary heart disease. Aim for a Healthy Weight by following a heart-healthy eating plan and keeping physically active.
Knowing your body mass index (BMI) helps you find out if youre a healthy weight in relation to your height and gives an estimate of your total body fat. To figure out your BMI, check out the National Heart, Lung, and Blood Institutes online BMI calculator or talk to your doctor. A BMI:
Below 18.5 is a sign that you are underweight.
Between 18.5 and 24.9 is in the normal range.
Between 25.0 and 29.9 is considered overweight.
A BMI of 30.0 or higher is considered obese.
A general goal to aim for is a BMI of less than 25. Your doctor or health care provider can help you set an appropriate BMI goal.
Measuring waist circumference helps screen for possible health risks. If most of your fat is around your waist rather than at your hips, youre at a higher risk for heart disease and type2 diabetes. This risk may be high with a waist size that is greater than 35 inches for women or greater than 40 inches for men. To learn how to measure your waist, visit Assessing Your Weight and Health Risk. For more information about losing weight or maintaining your weight, visit Aim for a Healthy Weight.
If youre overweight or obese, try to lose weight. A loss of just 3 percent to 5 percent of your current weight can lower your triglycerides, blood glucose, and the risk of developing type 2 diabetes. Greater amounts of weight loss can improve blood pressure readings, lower LDL cholesterol, and increase HDL cholesterol.
Managing Stress
Learning how to manage stress, relax, and cope with problems can improve your emotional and physical health. Consider healthy stress-reducing activities, such as:
A stress management program
Meditation
Physical activity
Relaxation therapy
Talking things out with friends or family
Physical Activity
Regular physical activity can lower many atherosclerosis risk factors, including LDL or bad cholesterol, high blood pressure, and excess weight. Physical activity also can lower your risk for diabetes and raise your HDL or good cholesterol, which helps prevent atherosclerosis.
Everyone should try to participate in moderate-intensity aerobic exercise at least 2 hours and 30 minutes per week or vigorous aerobic exercise for 1 hour and 15 minutes per week. Aerobic exercise, such as brisk walking, is any exercise in which your heart beats faster and you use more oxygen than usual. The more active you are, the more you will benefit. Participate in aerobic exercise for at least 10minutes at a time spread throughout the week.
Talk with your doctor before you start a new exercise plan. Ask your doctor how much and what kinds of physical activity are safe for you. Read more about physical activity at:
Physical Activity and Your Heart
U.S. Department of Health and Human Services, 2008 Physical Activity Guidelines for Americans
Quitting Smoking
If you smoke or use tobacco, quit. Smoking can damage and tighten blood vessels and raise your risk for atherosclerosis. Talk with your doctor about programs and products that can help you quit. Also, try to avoid secondhand smoke. If you have trouble quitting smoking on your own, consider joining a support group. Many hospitals, workplaces, and community groups offer classes to help people quit smoking.
For more information about how to quit smoking, visit Smoking and Your Heart.
Medicines
Sometimes lifestyle changes alone arent enough to control your cholesterol levels. For example, you also may need statin medications to control or lower your cholesterol. By lowering your blood cholesterol level, you can decrease your chance of having a heart attack or stroke. Doctors usually prescribe statins for people who have:
Coronary heart disease, peripheral artery disease, or had a prior stroke
Diabetes
High LDL cholesterol levels
Doctors may discuss beginning statin treatment with people who have an elevated risk for developing heart disease or having a stroke. Your doctor also may prescribe other medications to:
Lower your blood pressure
Lower your blood sugar levels
Prevent blood clots, which can lead to heart attack and stroke
Prevent inflammation
Take all medicines regularly, as your doctor prescribes. Dont change the amount of your medicine or skip a dose unless your doctor tells you to. You should still follow a heart healthy lifestyle, even if you take medicines to treat your atherosclerosis.
Medical Procedures and Surgery
If you have severe atherosclerosis, your doctor may recommend a medical procedure or surgery.
Percutaneous coronary intervention (PCI), also known as coronary angioplasty, is a procedure thats used to open blocked or narrowed coronary (heart) arteries. PCI can improve blood flow to the heart and relieve chest pain. Sometimes a small mesh tube called a stent is placed in the artery to keep it open after the procedure.
Coronary artery bypass grafting (CABG) is a type of surgery. In CABG, arteries or veins from other areas in your body are used to bypass or go around your narrowed coronary arteries. CABG can improve blood flow to your heart, relieve chest pain, and possibly prevent a heart attack.
Bypass grafting also can be used for leg arteries. For this surgery, a healthy blood vessel is used to bypass a narrowed or blocked artery in one of the legs. The healthy blood vessel redirects blood around the blocked artery, improving blood flow to the leg.
Carotid endarterectomy is a type of surgery to remove plaque buildup from the carotid arteries in the neck. This procedure restores blood flow to the brain, which can help prevent a stroke. |
causes | What causes Branchiootorenal syndrome ? | What causes branchiootorenal syndrome? Mutations in the genes, EYA1, SIX1, and SIX5, are known to cause branchiootorenal syndrome. About 40 percent of people with this condition have a mutation in the EYA1 gene. SIX1 and SIX5 mutations are much less common causes of the disorder. There are likely other genes that have not yet been identified that when mutated can cause this syndrome as well. |
treatment | What are the treatments for porphyria ? | These resources address the diagnosis or management of porphyria: - Gene Review: Gene Review: Acute Intermittent Porphyria - Gene Review: Gene Review: Congenital Erythropoietic Porphyria - Gene Review: Gene Review: Erythropoietic Protoporphyria, Autosomal Recessive - Gene Review: Gene Review: Hereditary Coproporphyria - Gene Review: Gene Review: Porphyria Cutanea Tarda, Type II - Gene Review: Gene Review: Variegate Porphyria - Gene Review: Gene Review: X-Linked Protoporphyria - Genetic Testing Registry: Acute intermittent porphyria - Genetic Testing Registry: Congenital erythropoietic porphyria - Genetic Testing Registry: Erythropoietic protoporphyria - Genetic Testing Registry: Familial porphyria cutanea tarda - Genetic Testing Registry: Hereditary coproporphyria - Genetic Testing Registry: Porphyria - Genetic Testing Registry: Protoporphyria, erythropoietic, X-linked - Genetic Testing Registry: Variegate porphyria - MedlinePlus Encyclopedia: Porphyria - MedlinePlus Encyclopedia: Porphyria cutanea tarda on the hands - MedlinePlus Encyclopedia: Porphyrins - Blood - MedlinePlus Encyclopedia: Porphyrins - Urine These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care |
treatment | What are the treatments for Diabetes ? | Diabetes cannot be cured, but it can be managed. Managing blood glucose (blood sugar) as well as blood pressure and cholesterol is the best defense against the serious complications of diabetes. Know What To Do Every Day To manage your diabetes, here are things to do every day. - Take your medicines. - Keep track of your blood glucose (blood sugar). - Check your blood pressure if your doctor advises. - Check your feet. - Brush your teeth and floss. - Stop smoking. - Eat well. - Be active. Take your medicines. Keep track of your blood glucose (blood sugar). Check your blood pressure if your doctor advises. Check your feet. Brush your teeth and floss. Stop smoking. Eat well. Be active. (Watch the video to learn more about what one woman does to manage her diabetes every day. To enlarge the video, click the brackets in the lower right-hand corner. To reduce the video, press the Escape (Esc) button on your keyboard.) Take Your Diabetes Medicines People with type 1 diabetes control their blood sugar with insulin -- delivered either by injection or with a pump. Many people with type 2 diabetes can control blood glucose levels with diet and exercise alone. Others require oral medications or insulin, and some may need both, as well as lifestyle modification. Ask your doctor if you need to take aspirin every day to prevent a heart attack or stroke. Keep Track of Your Blood Glucose One of the best ways to find out how well you are taking care of your diabetes is to check your blood to see how much glucose is in it. If your blood has too much or too little glucose, you may need a change in your meal plan, exercise plan, or medication. Ask your doctor how often you should check your blood glucose. Some people check their blood glucose once a day. Others do it three a day or even more. You may be told to check before eating, before bed, and sometimes in the middle of the night. Your doctor or diabetes educator will show you how to check your blood using a blood glucose meter. Your health insurance or Medicare may pay for some of the supplies and equipment you need to check your glucose levels. See what diabetes supplies and services Medicare covers. Check Your Blood Pressure Check your blood pressure if your doctor advises and keep a record of it. You can check your pressure at home with a home blood pressure measurement device or monitor. Blood pressure monitors can be bought at discount chain stores and drug stores. When you are taking your blood pressure at home, sit with your back supported and your feet flat on the floor. Rest your arm on a table at the level of your heart. Check with your health care provider to make sure you are using the monitor correctly. Check Your Feet Foot care is very important for people with diabetes. High blood glucose levels and a reduced blood supply to the limbs cause nerve damage that reduces feeling in the feet. Someone with nerve damage may not feel a pebble inside his or her sock that is causing a sore. Or a blister caused by poorly fitting shoes may go unnoticed. Foot injuries such as these can cause ulcers, which may, if not cared for, ultimately lead to the need for amputation. If you have diabetes, - check your feet every day and watch for any cuts, sores, red spots, swelling, and infected toenails. - report sores, blisters, breaks in the skin, infections, or buildup of calluses to a podiatrist or a family doctor. - never walk barefoot. - have your feet checked at every doctor visit. - take your shoes and socks off when you go into the examining room. This will remind the doctor to check your feet. check your feet every day and watch for any cuts, sores, red spots, swelling, and infected toenails. report sores, blisters, breaks in the skin, infections, or buildup of calluses to a podiatrist or a family doctor. never walk barefoot. have your feet checked at every doctor visit. take your shoes and socks off when you go into the examining room. This will remind the doctor to check your feet. Learn more about taking care of your feet. Brush Your Teeth and Floss People with diabetes can have tooth and gum problems more often if their blood glucose stays high. High blood glucose also can make tooth and gum problems worse. You can even lose your teeth. Here are ways to protect your teeth and gums. - Keep your blood glucose as close to normal as possible. - Use dental floss at least once a day. Flossing helps prevent the buildup of plaque on your teeth. Plaque can harden and grow under your gums and cause problems. Using a sawing motion, gently bring the floss between the teeth, scraping from bottom to top several times. - Brush your teeth after each meal and snack. Use a soft toothbrush. Turn the bristles against the gum line and brush gently. Use small, circular motions. Brush the front, back, and top of each tooth. - If you wear false teeth, keep them clean. - Call your dentist right away if you have problems with your teeth and gums. Keep your blood glucose as close to normal as possible. Use dental floss at least once a day. Flossing helps prevent the buildup of plaque on your teeth. Plaque can harden and grow under your gums and cause problems. Using a sawing motion, gently bring the floss between the teeth, scraping from bottom to top several times. Brush your teeth after each meal and snack. Use a soft toothbrush. Turn the bristles against the gum line and brush gently. Use small, circular motions. Brush the front, back, and top of each tooth. If you wear false teeth, keep them clean. Call your dentist right away if you have problems with your teeth and gums. Learn more about how diabetes can affect your mouth and teeth. Stop Smoking If you smoke, stop. Smoking raises your risk for many diabetes problems, including heart attack and stroke. Ask for help to quit. Call 1-800 QUITNOW (1-800-784-8669). For more information on smoking and older adults, see Quitting Smoking for Older Adults. Eat Well People with diabetes don't need to buy or prepare special foods. The foods that are best for someone with diabetes are excellent choices for everyone: foods that are low in fat, salt, and sugar, and high in fiber, such as beans, fruits, vegetables, and whole grains. These foods help you reach and stay at a weight that's good for your body, keep your blood pressure, glucose and cholesterol in a desirable range, and prevent or delay heart and blood vessel disease. For more on healthy eating, see Small Steps for Eating Healthy Foods. Be Active Try to exercise almost every day for a total of about 30 to 60 minutes. If you haven't exercised lately, begin slowly. Start with 5 to 10 minutes, and then add more time. Or exercise for 10 minutes, three times a day. (Tip: you dont need to get your exercise in all at one time.) For more information on exercise and older adults, see Exercise: How to Get Started or visit Go4Life, the exercise and physical activity campaign for older adults from the National Institute on Aging. Be sure to check with your doctor before starting an exercise program. Other Areas To Manage Here are other areas to manage if you have diabetes. - Take care of your eyes. - Protect your kidneys. - Protect your skin. - Learn how to cope with stress. Take care of your eyes. Protect your kidneys. Protect your skin. Learn how to cope with stress. Take Care of Your Eyes High blood glucose and high blood pressure from diabetes can hurt your eyes. It can even cause blindness, or other painful eye problems. Here are ways to prevent diabetes eye problems. - Keep your blood glucose and blood pressure as close to normal as you can. - Have an eye care professional examine your eyes once a year. Have this exam even if your vision is okay. Keep your blood glucose and blood pressure as close to normal as you can. Have an eye care professional examine your eyes once a year. Have this exam even if your vision is okay. Learn more about eye disease and diabetes. Protect Your Kidneys High blood glucose and high blood pressure may damage the kidneys. Damaged kidneys do not do a good job of filtering out wastes and extra fluid. Here are ways to prevent diabetes kidney problems. - Keep your blood glucose and blood pressure as close to your target goal as you can. - Get tested at least once a year for kidney disease. Ask your doctor if you should be tested. - Follow the healthy eating plan you work out with your doctor or dietitian. If you already have kidney problems, your dietitian may suggest you cut back on protein. Keep your blood glucose and blood pressure as close to your target goal as you can. Get tested at least once a year for kidney disease. Ask your doctor if you should be tested. Follow the healthy eating plan you work out with your doctor or dietitian. If you already have kidney problems, your dietitian may suggest you cut back on protein. Learn more about keeping your kidneys healthy. Protect Your Skin Skin care is very important, too. Because people with diabetes may have more injuries and infections, they should protect their skin by keeping it clean and taking care of minor cuts and bruises. Learn How To Cope With Stress Stress can raise your blood glucose (blood sugar). While it is hard to remove stress from your life, you can learn to handle it. Try deep breathing, gardening, taking a walk, meditating, working on your hobby, or listening to your favorite music. |
exams and tests | How to diagnose Heart Failure ? | Your doctor will diagnose heart failure based on your medical and family histories, a physical exam, and test results. The signs and symptoms of heart failure also are common in other conditions. Thus, your doctor will:
Find out whether you have a disease or condition that can cause heart failure, such as coronary heart disease (CHD), high blood pressure, or diabetes
Rule out other causes of your symptoms
Find any damage to your heart and check how well your heart pumps blood
Early diagnosis and treatment can help people who have heart failure live longer, more active lives.
Medical and Family Histories
Your doctor will ask whether you or others in your family have or have had a disease or condition that can cause heart failure.
Your doctor also will ask about your symptoms. He or she will want to know which symptoms you have, when they occur, how long you've had them, and how severe they are. Your answers will help show whether and how much your symptoms limit your daily routine.
Physical Exam
During the physical exam, your doctor will:
Listen to your heart for sounds that aren't normal
Listen to your lungs for the sounds of extra fluid buildup
Look for swelling in your ankles, feet, legs, abdomen, and the veins in your neck
Diagnostic Tests
No single test can diagnose heart failure. If you have signs and symptoms of heart failure, your doctor may recommend one or more tests.
Your doctor also may refer you to a cardiologist. A cardiologist is a doctor who specializes in diagnosing and treating heart diseases and conditions.
EKG (Electrocardiogram)
An EKG is a simple, painless test that detects and records the heart's electrical activity. The test shows how fast your heart is beating and its rhythm (steady or irregular). An EKG also records the strength and timing of electrical signals as they pass through your heart.
An EKG may show whether the walls in your heart's pumping chambers are thicker than normal. Thicker walls can make it harder for your heart to pump blood. An EKG also can show signs of a previous or current heart attack.
Chest X Ray
A chest x raytakes pictures of the structures inside your chest, such as your heart, lungs, and blood vessels. This test can show whether your heart is enlarged, you have fluid in your lungs, or you have lung disease.
BNP Blood Test
This test checks the level of a hormone in your blood called BNP. The level of this hormone rises during heart failure.
Echocardiography
Echocardiography (echo) uses sound waves to create a moving picture of your heart. The test shows the size and shape of your heart and how well your heart chambers and valves work.
Echo also can identify areas of poor blood flow to the heart, areas of heart muscle that aren't contracting normally, and heart muscle damage caused by lack of blood flow.
Echo might be done before and after a stress test (see below). A stress echo can show how well blood is flowing through your heart. The test also can show how well your heart pumps blood when it beats.
Doppler Ultrasound
A Doppler ultrasound uses sound waves to measure the speed and direction of blood flow. This test often is done with echo to give a more complete picture of blood flow to the heart and lungs.
Doctors often use Doppler ultrasound to help diagnose right-side heart failure.
Holter Monitor
A Holter monitor records your heart's electrical activity for a full 24- or 48-hour period, while you go about your normal daily routine.
You wear small patches called electrodes on your chest. Wires connect the patches to a small, portable recorder. The recorder can be clipped to a belt, kept in a pocket, or hung around your neck.
Nuclear Heart Scan
A nuclear heart scan shows how well blood is flowing through your heart and how much blood is reaching your heart muscle.
During a nuclear heart scan, a safe, radioactive substance called a tracer is injected into your bloodstream through a vein. The tracer travels to your heart and releases energy. Special cameras outside of your body detect the energy and use it to create pictures of your heart.
A nuclear heart scan can show where the heart muscle is healthy and where it's damaged.
A positron emission tomography (PET) scan is a type of nuclear heart scan. It shows the level of chemical activity in areas of your heart. This test can help your doctor see whether enough blood is flowing to these areas. A PET scan can show blood flow problems that other tests might not detect.
Cardiac Catheterization
During cardiac catheterization (KATH-eh-ter-ih-ZA-shun), a long, thin, flexible tube called a catheter is put into a blood vessel in your arm, groin (upper thigh), or neck and threaded to your heart. This allows your doctor to look inside your coronary (heart) arteries.
During this procedure, your doctor can check the pressure and blood flow in your heart chambers, collect blood samples, and use x rays to look at your coronary arteries.
Coronary Angiography
Coronary angiography (an-jee-OG-rah-fee) usually is done with cardiac catheterization. A dye that can be seen on x ray is injected into your bloodstream through the tip of the catheter.
The dye allows your doctor to see the flow of blood to your heart muscle. Angiography also shows how well your heart is pumping.
Stress Test
Some heart problems are easier to diagnose when your heart is working hard and beating fast. During stress testing, you exercise to make your heart work hard and beat fast.
You may walk or run on a treadmill or pedal a bicycle. If you can't exercise, you may be given medicine to raise your heart rate.
Heart tests, such as nuclear heart scanning and echo, often are done during stress testing.
Cardiac MRI
Cardiac MRI (magnetic resonance imaging) uses radio waves, magnets, and a computer to create pictures of your heart as it's beating. The test produces both still and moving pictures of your heart and major blood vessels.
A cardiac MRI can show whether parts of your heart are damaged. Doctors also have used MRI in research studies to find early signs of heart failure, even before symptoms appear.
Thyroid Function Tests
Thyroid function tests show how well your thyroid gland is working. These tests include blood tests, imaging tests, and tests to stimulate the thyroid. Having too much or too little thyroid hormone in the blood can lead to heart failure. |
genetic changes | What are the genetic changes related to autosomal recessive axonal neuropathy with neuromyotonia ? | Autosomal recessive axonal neuropathy with neuromyotonia is caused by mutations in the HINT1 gene. This gene provides instructions for making a protein that is involved in the function of the nervous system; however its specific role is not well understood. Laboratory studies show that the HINT1 protein has the ability to carry out a chemical reaction called hydrolysis that breaks down certain molecules; however, it is not known what effects the reaction has in the body. HINT1 gene mutations that cause autosomal recessive axonal neuropathy with neuromyotonia lead to production of a HINT1 protein with little or no function. Sometimes the abnormal protein is broken down prematurely. Researchers are working to determine how loss of functional HINT1 protein affects the peripheral nerves and leads to the signs and symptoms of this condition. |
information | what is cdc doing to address visa and vrsa? | On this Page General Information about VISA/VRSA What is Staphylococcus aureus? How do VISA and VRSA get their names? What should a patient do if they suspect they have a Staph, MRSA, VISA, or VRSA infection? Are VISA and VRSA infections treatable? How can the spread of VISA and VRSA be prevented? What should a person do if a family member or close friend has VISA or VRSA? What is CDC doing to address VISA and VRSA? Recommendations and Guidelines General Information about VISA/VRSA For more images of this bacterium, search the Public Health Image Library Vancomycin [van−kō−mī−sin]-intermediate Staphylococcus aureus [staff−u−lu−kaw−kus aw−ree−us] (also called VISA) and Vancomycin-resistant Staphylococcus aureus (also called VRSA) are specific types of antimicrobial-resistant bacteria. However, as of October 2010, all VISA and VRSA isolates have been susceptible to other Food and Drug Administration (FDA)-approved drugs. Persons who develop this type of staph infection may have underlying health conditions (such as diabetes and kidney disease), tubes going into their bodies (such as catheters), previous infections with methicillin-resistant Staphylococcus aureus (MRSA), and recent exposure to vancomycin and other antimicrobial agents. What is Staphylococcus aureus? Staphylococcus aureus is a bacterium commonly found on the skin and in the nose of about 30% of individuals. Most of the time, staph does not cause any harm. These infections can look like pimples, boils, or other skin conditions and most are able to be treated. Sometimes staph bacteria can get into the bloodstream and cause serious infections which can be fatal, including: Bacteremia or sepsis when bacteria spread to the bloodstream usually as a result of using catheters or having surgery. Pneumonia which predominantly affects people with underlying lung disease including those on mechanical ventilators. Endocarditis (infection of the heart valves) which can lead to heart failure. Osteomyelitis (bone infection) which can be caused by staph bacteria traveling in the bloodstream or put there by direct contact such as following trauma (puncture wound of foot or intravenous (IV) drug abuse). Top of page How do VISA and VRSA get their names? Staph bacteria are classified as VISA or VRSA based on laboratory tests. Laboratories perform tests to determine if staph bacteria are resistant to antimicrobial agents that might be used for treatment of infections. For vancomycin and other antimicrobial agents, laboratories determine how much of the agent it requires to inhibit the growth of the organism in a test tube. The result of the test is usually expressed as a minimum inhibitory concentration (MIC) or the minimum amount of antimicrobial agent that inhibits bacterial growth in the test tube. Therefore, staph bacteria are classified as VISA if the MIC for vancomycin is 4-8µg/ml, and classified as VRSA if the vancomycin MIC is ≥16µg/ml. Top of page What should a patient do if they suspect they have a staph, MRSA, VISA, or VRSA infection? See a healthcare provider. Top of page Are VISA and VRSA infections treatable? Yes. As of October 2010, all VISA and VRSA isolates have been susceptible to several Food and Drug Administration (FDA)-approved drugs. Top of page How can the spread of VISA and VRSA be prevented? Use of appropriate infection control practices (such as wearing gloves before and after contact with infectious body substances and adherence to hand hygiene) by healthcare personnel can reduce the spread of VISA and VRSA. Top of page What should a person do if a family member or close friend has VISA or VRSA? VISA and VRSA are types of antibiotic-resistant staph bacteria. Therefore, as with all staph bacteria, spread occurs among people having close physical contact with infected patients or contaminated material, such as bandages. Persons having close physical contact with infected patients while they are outside of the healthcare setting should: (1) keep their hands clean by washing thoroughly with soap and water, and (2) avoid contact with other people's wounds or material contaminated from wounds. If they go to the hospital to visit a friend or family member who is infected with VISA or VRSA , they must follow the hospital's recommended precautions. Top of page What is CDC doing to address VISA and VRSA? In addition to providing guidance for clinicians and infection control personnel, CDC is also working with state and local health agencies, healthcare facilities, and clinical microbiology laboratories to ensure that laboratories are using proper methods to detect VISA and VRSA. Top of page Recommendations and Guidelines CDC issued a Clinical Reminder, in 2010, which serves as a reminder about the important role of clinical laboratories in the diagnosis of VRSA cases to ensure prompt recognition, isolation, and management by infection control personnel. Investigation and Control of Vancomycin-Resistant Staphylococcus aureus (VRSA) [PDF - 300 KB] - This document is a guide to conducting a public health investigation of patients from whom vancomycin-resistant Staphylococcus aureus (VRSA, vancomycin MIC ≥ 16 µg/ml) has been isolated. The information reflects the experience gained from field investigations of the first fourteen VRSA identified in the United States. Top of page |
stages | What are the stages of Anal Cancer ? | Key Points
- After anal cancer has been diagnosed, tests are done to find out if cancer cells have spread within the anus or to other parts of the body. - There are three ways that cancer spreads in the body. - Cancer may spread from where it began to other parts of the body. - The following stages are used for anal cancer: - Stage 0 (Carcinoma in Situ) - Stage I - Stage II - Stage IIIA - Stage IIIB - Stage IV
After anal cancer has been diagnosed, tests are done to find out if cancer cells have spread within the anus or to other parts of the body.
The process used to find out if cancer has spread within the anus or to other parts of the body is called staging. The information gathered from the staging process determines the stage of the disease. It is important to know the stage in order to plan treatment. The following tests may be used in the staging process: - CT scan (CAT scan): A procedure that makes a series of detailed pictures of areas inside the body, such as the abdomen or chest, taken from different angles. The pictures are made by a computer linked to an x-ray machine. A dye may be injected into a vein or swallowed to help the organs or tissues show up more clearly. This procedure is also called computed tomography, computerized tomography, or computerized axial tomography. For anal cancer, a CT scan of the pelvis and abdomen may be done. - Chest x-ray : An x-ray of the organs and bones inside the chest. An x-ray is a type of energy beam that can go through the body and onto film, making a picture of areas inside the body. - MRI (magnetic resonance imaging): A procedure that uses a magnet, radio waves, and a computer to make a series of detailed pictures of areas inside the body. This procedure is also called nuclear magnetic resonance imaging (NMRI). - PET scan (positron emission tomography scan): A procedure to find malignant tumor cells in the body. A small amount of radioactive glucose (sugar) is injected into a vein. The PET scanner rotates around the body and makes a picture of where glucose is being used in the body. Malignant tumor cells show up brighter in the picture because they are more active and take up more glucose than normal cells do.
There are three ways that cancer spreads in the body.
Cancer can spread through tissue, the lymph system, and the blood: - Tissue. The cancer spreads from where it began by growing into nearby areas. - Lymph system. The cancer spreads from where it began by getting into the lymph system. The cancer travels through the lymph vessels to other parts of the body. - Blood. The cancer spreads from where it began by getting into the blood. The cancer travels through the blood vessels to other parts of the body.
Cancer may spread from where it began to other parts of the body.
When cancer spreads to another part of the body, it is called metastasis. Cancer cells break away from where they began (the primary tumor) and travel through the lymph system or blood. - Lymph system. The cancer gets into the lymph system, travels through the lymph vessels, and forms a tumor (metastatic tumor) in another part of the body. - Blood. The cancer gets into the blood, travels through the blood vessels, and forms a tumor (metastatic tumor) in another part of the body. The metastatic tumor is the same type of cancer as the primary tumor. For example, if anal cancer spreads to the lung, the cancer cells in the lung are actually anal cancer cells. The disease is metastatic anal cancer, not lung cancer.
The following stages are used for anal cancer:
Stage 0 (Carcinoma in Situ) In stage 0, abnormal cells are found in the innermost lining of the anus. These abnormal cells may become cancer and spread into nearby normal tissue. Stage 0 is also called carcinoma in situ. Stage I In stage I, cancer has formed and the tumor is 2 centimeters or smaller. Stage II In stage II, the tumor is larger than 2 centimeters. Stage IIIA In stage IIIA, the tumor may be any size and has spread to either: - lymph nodes near the rectum; or - nearby organs, such as the vagina, urethra, and bladder. Stage IIIB In stage IIIB, the tumor may be any size and has spread: - to nearby organs and to lymph nodes near the rectum; or - to lymph nodes on one side of the pelvis and/or groin, and may have spread to nearby organs; or - to lymph nodes near the rectum and in the groin, and/or to lymph nodes on both sides of the pelvis and/or groin, and may have spread to nearby organs. Stage IV In stage IV, the tumor may be any size and cancer may have spread to lymph nodes or nearby organs and has spread to distant parts of the body. |
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