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How might Ollier disease be treated? There is no specific medical treatment for Ollier disease. Surgery is indicated in cases where complications (pathological fractures, growth defect, malignant transformation) arise.
Congenital generalized lipodystrophy has an estimated prevalence of 1 in 10 million people worldwide. Between 300 and 500 people with the condition have been described in the medical literature. Although this condition has been reported in populations around the world, it appears to be more common in certain regions of...
How is Binswanger's disease diagnosed? A diagnosis of Binswanger's disease is often suspected based on the presence of characteristic signs and symptoms. Additional testing can then be ordered to confirm the diagnosis. This generally consists of imaging studies of the brain (i.e. CT scan and/or MRI scan).
The prevalence of LHON in most populations is unknown. It affects 1 in 30,000 to 50,000 people in northeast England and Finland.
How is fragile X syndrome inherited? Fragile X syndrome (FXS) is inherited in an X-linked dominant manner. A condition is X-linked if the responsible gene is located on the X chromosome. The inheritance is dominant if having only one changed (mutated) copy of the responsible gene is enough to cause symptoms of the cond...
Cri-du-chat syndrome is caused by a deletion of the end of the short (p) arm of chromosome 5. This chromosomal change is written as 5p-. The size of the deletion varies among affected individuals; studies suggest that larger deletions tend to result in more severe intellectual disability and developmental delay than sm...
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
Apert syndrome affects an estimated 1 in 65,000 to 88,000 newborns.
Is your child ready to use a potty? The more important question may be, are you? Children are usually ready around ages 18-24 months. They often signal that they are ready by letting you know when their diapers need changing. You should be prepared to commit to three months of daily encouragement. Successful trips to t...
How might galactosialidosis be treated? There is no cure for galactosialidosis. Treatment is symptomatic and supportive; for example, taking medication to control seizures. Individuals with galactosialidosis are encouraged to routinely see their genetic counselors, neurological, ophthalmological, and other specialists ...
Cancer prevention clinical trials are used to study ways to prevent cancer. Cancer prevention clinical trials are used to study ways to lower the risk of developing certain types of cancer. Some cancer prevention trials are conducted with healthy people who have not had cancer but who have an increa...
Mutations in the PORCN gene cause focal dermal hypoplasia. This gene provides instructions for making a protein that is responsible for modifying other proteins, called Wnt proteins. Wnt proteins participate in chemical signaling pathways in the body that regulate development of the skin, bones, and other structures be...
The incidence of GSDIII in the United States is 1 in 100,000 individuals. This condition is seen more frequently in people of North African Jewish ancestry; in this population, 1 in 5,400 individuals are estimated to be affected. GSDIIIa is the most common form of GSDIII, accounting for about 85 percent of all cases. ...
Mutations in the IKBKAP gene cause familial dysautonomia. The IKBKAP gene provides instructions for making a protein called IKK complex-associated protein (IKAP). This protein is found in a variety of cells throughout the body, including brain cells. Nearly all individuals with familial dysautonomia have two copies o...
Reynolds syndrome is a condition characterized by scleroderma with primary biliary cirrhosis. Scleroderma is mainly limited to CREST syndrome, which includes calcinosis cutis (calcium deposits in the skin), Raynaud's phenomenon, esophageal dysfunction (acid reflux and decrease in motility in the esophagus), sclerodacty...
How might hemoglobin E disease be treated? Treatment is usually not necessary. Folic acid supplements may be prescribed to help the body produce normal red blood cells and improve symptoms of anemia. People with hemoglobin E disease can expect to lead a normal life.
What are the signs and symptoms of Myelocytic leukemia-like syndrome, familial, chronic? The Human Phenotype Ontology provides the following list of signs and symptoms for Myelocytic leukemia-like syndrome, familial, chronic. If the information is available, the table below includes how often the symptom is seen in peo...
These resources address the diagnosis or management of glycogen storage disease type V: - Gene Review: Gene Review: Glycogen Storage Disease Type V - Genetic Testing Registry: Glycogen storage disease, type V - MedlinePlus Encyclopedia: McArdle syndrome These resources from MedlinePlus offer information about the ...
These resources address the diagnosis or management of malignant migrating partial seizures of infancy: - Genetic Testing Registry: Early infantile epileptic encephalopathy 14 - MedlinePlus Encyclopedia: EEG These resources from MedlinePlus offer information about the diagnosis and management of various health cond...
Cytomegalovirus (CMV) is a virus found around the world. It is related to the viruses that cause chickenpox and infectious mononucleosis (mono). Between 50 percent and 80 percent of adults in the United States have had a CMV infection by age 40. Once CMV is in a person's body, it stays there for life. CMV is spread...
The presence of a cyst-like mass in a person with a history of exposure to sheepdogs in an area where E. granulosus is endemic suggests a diagnosis of cystic echinococcosis. Imaging techniques, such as CT scans, ultrasonography, and MRIs, are used to detect cysts. After a cyst has been detected, serologic tests may be ...
List of Vaccine-Preventable Diseases The following links will lead you to the main page that describes both the disease and the vaccine(s). Vaccines are available for all of the following vaccine-preventable diseases (unless otherwise noted): Anthrax Cervical Cancer (Human Papillomavirus) Diphtheria Hepatitis A Hepatit...
Transient ischemic attacks, or TIAs, occur when the warning signs of stroke last only a few moments and then disappear. These brief episodes are also sometimes called "mini-strokes." Although brief, they identify an underlying serious condition that isn't going away without medical help. Unfortunately, since they clear...
Summary : Hip replacement is surgery for people with severe hip damage. The most common cause of damage is osteoarthritis. Osteoarthritis causes pain, swelling, and reduced motion in your joints. It can interfere with your daily activities. If other treatments such as physical therapy, pain medicines, and exercise have...
Summary : You have more calcium in your body than any other mineral. Calcium has many important jobs. The body stores more than 99 percent of its calcium in the bones and teeth to help make and keep them strong. The rest is throughout the body in blood, muscle and the fluid between cells. Your body needs calcium to hel...
Most cases of polycythemia vera are not inherited. This condition is associated with genetic changes that are somatic, which means they are acquired during a person's lifetime and are present only in certain cells. In rare instances, polycythemia vera has been found to run in families. In some of these families, the r...
What are the signs and symptoms of Dystelephalangy? The Human Phenotype Ontology provides the following list of signs and symptoms for Dystelephalangy. 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...
Ichthyosis with confetti is considered to have an autosomal dominant pattern of inheritance, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Usually, the condition is caused by a new mutation that occurs very early in embryonic development (called a de novo mutation). In these...
The NINDS supports and conducts a broad range of basic and clinical research on cerebellar degeneration, including work aimed at finding the cause(s) of OPCA and ways to treat, cure, and, ultimately, prevent the disease. There has been great progress recently since the genes for several of the hereditary forms of OPCA ...
Arachnoiditis remains a difficult condition to treat, and long-term outcomes are unpredictable. Most treatments for arachnoiditis are focused on pain relief and the improvement of symptoms that impair daily function. A regimen of pain management, physiotheraphy, exercise, and psychotheraphy is often recommended. Surgic...
Collagen VI-related myopathy is rare. Bethlem myopathy is estimated to occur in 0.77 per 100,000 individuals, and Ullrich congenital muscular dystrophy is estimated to occur in 0.13 per 100,000 individuals. Only a few cases of the intermediate form have been described in the scientific literature.
Non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (NCAH) is a milder and later onset form of a genetic condition known as congenital adrenal hyperplasia. Some people affected by the condition have no associated signs and symptoms while others experience symptoms of androgen (male hormone) exce...
Wilson disease is a rare inherited disorder that prevents your body from getting rid of extra copper. You need a small amount of copper from food to stay healthy. Too much copper is poisonous. Normally, your liver releases extra copper into bile, a digestive fluid. With Wilson disease, the copper builds up in your l...
Your back is made of bones, muscles, and other tissues extending from your neck to your pelvis. Back injuries can result from sports injuries, work around the house or in the garden, or a sudden jolt such as a car accident. The lower back is the most common site of back injuries and back pain. Common back injuries incl...
The NINDS conducts and supports a broad range of research on neurogenetic disorders, including Moebius syndrome. The goals of these studies are to develop improved techniques to diagnose, treat, and eventually cure these disorders.
Ocular albinism type 1 is inherited in an X-linked pattern. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the GPR143 gene in each cell is sufficient to cause t...
Alopecia universalis (AU) is a condition characterized by the complete loss of hair on the scalp and body. It is an advanced form of alopecia areata, a condition that causes round patches of hair loss. Although the exact cause of AU is unknown, it is thought to be an autoimmune condition in which an affected person's i...
Andersen-Tawil syndrome is a type of long QT syndrome and is also considered a rare form of periodic paralysis. It causes episodes of muscle weakness, changes in heart rhythm (arrhythmia), and developmental abnormalities. Physical abnormalities associated with this condition typically affect the head, face, and limbs. ...
Complement factor I deficiency is a disorder that affects the immune system. People with this condition are prone to recurrent infections, including infections of the upper respiratory tract, ears, skin, and urinary tract. They may also contract more serious infections such as pneumonia, meningitis, and sepsis, which m...
This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In some cases, an affected person inherits the mutation from one affected parent. Other cases may result from new mutations in the gene. These cases occur in people wi...
SPF is a sun protection rating. The SPF of a sunscreen is a measure of the time it takes to produce a sunburn in a person wearing sunscreen compared to the time it takes to produce a sunburn in a person not wearing sunscreen. This varies from person to person, so be sure to reapply sunscreen every 2-3 hours.
The esophagus is the tube that carries food, liquids and saliva from your mouth to the stomach. You may not be aware of your esophagus until you swallow something too large, too hot or too cold. You may also become aware of it when something is wrong. The most common problem with the esophagus is gastroesophageal r...
Testicles, or testes, make male hormones and sperm. They are two egg-shaped organs inside the scrotum, the loose sac of skin behind the penis. You can get cancer in one or both testicles. Testicular cancer mainly affects young men between the ages of 20 and 39. It is also more common in men who - Have had abno...
Smoking, previous chemotherapy treatment, and exposure to radiation may affect the risk of adult AML. Anything that increases your risk of getting a disease is called a risk factor. Having a risk factor does not mean that you will get cancer; not having risk factors doesnt mean that you will not get cancer. Talk with y...
Suicide is the tenth most common cause of death in the United States. People may consider suicide when they are hopeless and can't see any other solution to their problems. Often it's related to serious depression, alcohol or substance abuse, or a major stressful event. People who have the highest risk of suicide ar...
A variety of genetic and environmental factors likely play a role in causing Tourette syndrome. Most of these factors are unknown, and researchers are studying risk factors before and after birth that may contribute to this complex disorder. Scientists believe that tics may result from changes in brain chemicals (neuro...
Infective endocarditis (IE) is an uncommon condition that can affect both children and adults. It's more common in men than women. IE typically affects people who have abnormal hearts or other conditions that put them at risk for the infection. Sometimes IE does affect people who were healthy before th...
Lattice corneal dystrophy type I is an eye disorder that affects the clear, outer covering of the eye called the cornea. The cornea must remain clear for an individual to see properly; however, in lattice corneal dystrophy type I, protein clumps known as amyloid deposits cloud the cornea, which leads to vision impairme...
Snibbeleroodle disease makes patients temporarily attracted to doorknobs, often resulting in awkward hugging of doors. Recovery techniques include gradual exposure therapy with increasingly attractive doorknobs and supportive group therapy with fellow sufferers.
NARP results from mutations in the MT-ATP6 gene. This gene is contained in mitochondrial DNA, also known as mtDNA. Mitochondria are structures within cells that convert the energy from food into a form that cells can use. Although most DNA is packaged in chromosomes within the nucleus, mitochondria also have a small am...
Epstein-Barr virus infection increases the risk of childhood Hodgkin lymphoma. Anything that increases your risk of getting a disease is called a risk factor. Having a risk factor does not mean that you will get cancer; not having risk factors doesnt mean that you will not get cancer. Talk with your childs doctor if yo...
Signs and symptoms of thymoma and thymic carcinoma include a cough and chest pain. Thymoma and thymic carcinoma may not cause early signs or symptoms. The cancer may be found during a routine chest x-ray. Signs and symptoms may be caused by thymoma, thymic carcinoma, or other conditions. Check with your doctor if you h...
The NINDS funds research looking at many of the diseases and disorders that cause cerebral atrophy. Understanding the biological mechanisms that cause neurons to die in the brain will help researchers find ways to prevent, treat, and even cure the diseases that lead to cerebral atrophy.
Lymphedema-distichiasis syndrome is caused by mutations in the FOXC2 gene. The FOXC2 gene provides instructions for making a protein that plays a critical role in the formation of many organs and tissues before birth. The FOXC2 protein is a transcription factor, which means that it attaches (binds) to specific regions ...
How might fragile X syndrome be treated? There is no specific treatment available for fragile X syndrome. Management of this condition is generally supportive and may include: recognizing the need for special education and avoiding excessive stimulation, which may help with behavioral problems early educational interv...
These resources address the diagnosis or management of color vision deficiency: - Gene Review: Gene Review: Red-Green Color Vision Defects - Genetic Testing Registry: Colorblindness, partial, deutan series - Genetic Testing Registry: Cone monochromatism - Genetic Testing Registry: Protan defect - Genetic Testing R...
Wild animals usually avoid people. They might attack, however, if they feel threatened, are sick, or are protecting their young or territory. Attacks by pets are more common. Animal bites rarely are life-threatening, but if they become infected, you can develop serious medical problems. To prevent animal bites and ...
These resources address the diagnosis or management of Donohue syndrome: - Genetic Testing Registry: Leprechaunism syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic ...
How is pityriasis lichenoides chronica diagnosed? The clinical appearance of pityriasis lichenoides chronica suggests the diagnosis. However, since it can look like psoriasis, lichen planus, or the common bug bite, a skin biopsy is recommended to confirm the diagnosis. A dermatologist is the type of specialist who is m...
These resources address the diagnosis or management of MCPH: - Gene Review: Gene Review: Primary Autosomal Recessive Microcephalies and Seckel Syndrome Spectrum Disorders - Genetic Testing Registry: Primary autosomal recessive microcephaly 1 - Genetic Testing Registry: Primary autosomal recessive microcephaly 2 - G...
An estimated 1 in 10,000 people have primary sclerosing cholangitis, and the condition is diagnosed in approximately 1 in 100,000 people per year worldwide.
Autosomal recessive congenital stationary night blindness is likely a rare disease; however, its prevalence is unknown.
- Acromegaly is a hormonal disorder that results from too much growth hormone (GH) in the body. - In most people with acromegaly, a benign tumor of the pituitary gland produces excess GH. - Common features of acromegaly include abnormal growth of the hands and feet; bone growth in the face that leads to a protruding ...
There are many kinds of families. Some have two parents, while others have a single parent. Sometimes there is no parent and grandparents raise grandchildren. Some children live in foster families, adoptive families, or in stepfamilies. Families are much more than groups of people who share the same genes or the sam...
Since the virus remains in the person for life, there is no treatment to eliminate CMV infection. However, minimizing contact with infected body fluids can decrease the risk of viral transmission between individuals or from mother to fetus. Contact can be minimized by using gloves or other protective barriers when hand...
Dry eye occurs when the eye does not produce tears properly, or when the tears are of poor quality and dry up quickly. The eyes need tears for overall eye health and clear vision. Dry eye can last a short time or it can be an ongoing condition. It can include a variety of symptoms, such as discomfort and pain. Your eye...
Prostate cancer is one of the most common types of cancer among American men. It is a slow-growing disease that mostly affects older men. In fact, more than 60 percent of all prostate cancers are found in men over the age of 65. The disease rarely occurs in men younger than 40 years of age.
Duane-radial ray syndrome results from mutations in the SALL4 gene. This gene is part of a group of genes called the SALL family. SALL genes provide instructions for making proteins that are involved in the formation of tissues and organs before birth. The proteins produced from these genes act as transcription factors...
CHARGE syndrome is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Most cases result from new mutations in the CHD7 gene and occur in people with no history of the disorder in their family. In rare cases, an affected person inherits ...
What causes bronchiolitis obliterans organizing pneumonia (BOOP)? BOOP may be caused by a variety of factors, including viral infections, inhalation of toxic gases, drugs, connective tissue disorders, radiation therapy, cocaine, inflammatory bowl disease, and HIV infection. In many cases, the underlying cause of BOOP i...
Myhre syndrome is a rare inherited disorder characterized by intellectual disability, short stature, unusual facial features, and various bone (skeletal) abnormalities. Other findings may include hearing impairment, abnormal enlargement of the muscles (muscle hypertrophy), and/or joint stiffness. Myhre syndrome is caus...
Syringomyelia (sear-IN-go-my-EEL-ya) is a disorder in which a fluid-filled cyst forms within the spinal cord. This cyst, called a syrinx, expands and elongates over time, destroying the center of the spinal cord. Since the spinal cord connects the brain to nerves in the extremities, this damage results in pain, weaknes...
Is jejunal atresia inherited? Most cases of jejunal atresia occur sporadically in people with no family history of the condition. However, it can rarely affect more than one family member. In these families, jejunal atresia is likely due to a genetic cause and appears to be inherited in an autosomal recessive or multif...
To diagnose indigestion, the doctor asks about the person's current symptoms and medical history and performs a physical examination. The doctor may order x rays of the stomach and small intestine. The doctor may perform blood, breath, or stool tests if the type of bacteria that causes peptic ulcer dis...
Cutaneous mastocytosis is a form of mastocytosis that primarily affects the skin. There are three main forms of the condition: maculopapular cutaneous mastocytosis (also called urticaria pigmentosa), solitary cutaneous mastocytoma, and diffuse cutaneous mastocytosis. There is also an exteremely rare form called telangi...
Adolescent idiopathic scoliosis is the most common spinal abnormality in children. It affects an estimated 2 to 3 percent of children in the U.S.
Langer mesomelic dysplasia has a pseudoautosomal recessive pattern of inheritance. The SHOX gene is located on both the X and Y chromosomes (sex chromosomes) in an area known as the pseudoautosomal region. Although many genes are unique to either the X or Y chromosome, genes in the pseudoautosomal region are present on...
You can't always prevent acute or chronic bronchitis. However, you can take steps to lower your risk for both conditions. The most important step is to quit smoking or not start smoking. For more information about how to quit smoking, go to the Diseases and Conditions Index Smoking and Your Heart artic...
Your ear has three main parts: outer, middle and inner. You use all of them in hearing. Sound waves come in through your outer ear. They reach your middle ear, where they make your eardrum vibrate. The vibrations are transmitted through three tiny bones, called ossicles, in your middle ear. The vibrations travel to you...
Safe and effective prescription drugs are available to treat both Trichinella infection and the symptoms that occur as a result of infection. Treatment should begin as soon as possible; a doctor will make the decision to treat based upon symptoms, exposure to raw or undercooked meat, and laboratory test results. M...
How might phacomatosis pigmentovascularis be diagnosed? Diagnosis of phacomatosis pigmentovascularis is based primarily on physical evaluation and appearence of the skin lesions.
Combined pituitary hormone deficiency is a condition that causes a shortage (deficiency) of several hormones produced by the pituitary gland, which is located at the base of the brain. A lack of these hormones may affect the development of many parts of the body. The first signs of this condition include a failure to g...
Hidradenitis suppurativa was once thought to be a rare condition because only the most severe cases were reported. However, recent studies have shown that the condition affects at least 1 in 100 people when milder cases are also considered. For reasons that are unclear, women are about twice as likely as men to develop...
Laing distal myopathy is a condition that affects skeletal muscles, which are muscles that the body uses for movement. This disorder causes progressive muscle weakness that appears in childhood. The first sign of Laing distal myopathy is usually weakness in certain muscles in the feet and ankles. This weakness leads to...
How is Milroy disease inherited? Milroy disease is inherited in an autosomal dominant manner. This means that having one changed (mutated) copy of the responsible gene in each cell is enough to cause symptoms of the condition. When a person with an autosomal dominant condition has children, each child has a 50% (1 in 2...
Most cases of idiopathic pulmonary fibrosis are sporadic; they occur in people with no history of the disorder in their family. Familial pulmonary fibrosis appears to have an autosomal dominant pattern of inheritance. Autosomal dominant inheritance means one copy of an altered gene in each cell is sufficient to cause ...
What are the signs and symptoms of Anal sphincter dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Anal sphincter dysplasia. 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 Med...
These resources address the diagnosis or management of Kuskokwim syndrome: - Genetic Testing Registry: Kuskokwim disease - Mount Sinai Hospital: Contractures Information These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Th...
These resources address the diagnosis or management of inherited thyroxine-binding globulin deficiency: - American Thyroid Association: Thyroid Function Tests - MedlinePlus Encyclopedia: Serum TBG Level These resources from MedlinePlus offer information about the diagnosis and management of various health condition...
Severe MPS I occurs in approximately 1 in 100,000 newborns. Attenuated MPS I is less common and occurs in about 1 in 500,000 newborns.
Cranioectodermal dysplasia is caused by mutations in one of at least four genes: the WDR35, IFT122, WDR19, or IFT43 gene. The protein produced from each of these genes is one piece (subunit) of a protein complex called IFT complex A (IFT-A). This complex is found in finger-like structures called cilia that stick out fr...
How is cryptogenic organizing pneumonia diagnosed? A diagnosis of cryptogenic organizing pneumonia is often suspected based on the presence of characteristic signs and symptoms once other conditions that cause similar features have been excluded. This includes ruling out other known causes of organizing pneumonia. Addi...
Winchester syndrome is a rare inherited disease characterized by a loss of bone tissue (osteolysis), particularly in the hands and feet. Winchester syndrome used to be considered part of a related condition now called multicentric osteolysis, nodulosis, and arthropathy (MONA). However, because Winchester syndrome and M...
Temporomandibular ankylosis is a condition that occurs when the temporomandibular joint (the joint that connects the jaw to the side of the head) becomes fused by bony or fibrous tissue. As a result, affected people may experience pain, speech impairment, and difficulty chewing and swallowing. It can interfere with nut...
Buschke-Ollendorff syndrome results from mutations in the LEMD3 gene. This gene provides instructions for making a protein that helps control signaling through two chemical pathways known as the bone morphogenic protein (BMP) and transforming growth factor-beta (TGF-) pathways. These signaling pathways regulate various...
Weight gain usually happens over time. Most people know when they've gained weight. Some of the signs of overweight or obesity include: Clothes feeling tight and needing a larger size. The scale showing that you've gained weight. Having extra fat around the waist. ...
These resources address the diagnosis or management of hemophilia: - Gene Review: Gene Review: Hemophilia A - Gene Review: Gene Review: Hemophilia B - Genetic Testing Registry: HEMOPHILIA B(M) - Genetic Testing Registry: Hemophilia - Genetic Testing Registry: Hereditary factor IX deficiency disease - Genetic Test...
To prevent constipation, a diet with 20 to 35 grams of fiber each day helps the body form soft, bulky stool that is easier to pass. High-fiber foods include beans, whole grains and bran cereals, fresh fruits, and vegetables such as asparagus, brussels sprouts, cabbage, and carrots. For people prone to constipation, lim...
Deep vein thrombosis, or DVT, is a blood clot that forms in a vein deep in the body. Most deep vein clots occur in the lower leg or thigh. If the vein swells, the condition is called thrombophlebitis. A deep vein thrombosis can break loose and cause a serious problem in the lung, called a pulmonary embolism. Sitting...
Following a healthy eating plan is a key step in living with diabetes and preventing diabetes problems. Your health care team will help you make a healthy eating plan. More information is provided in the NIDDK health topic, What I need to know about Eating and Diabetes or call 18008608747.