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Summary : Health fraud involves selling drugs, devices, foods, or cosmetics that have not been proven effective. Keep in mind - if it sounds too good to be true, it's probably a scam. At best, these scams don't work. At worst, they're dangerous. They also waste money, and they might keep you from getting the treatment ...
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.
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.
What are the signs and symptoms of lipedema? Signs and symptoms of lipedema include enlarged legs extending from the buttocks to the ankles. This enlargement can be painful. The size of the legs are typically out of proportion to the upper body (despite the individuals BMI). The feet are much less involved or spared en...
Amyotrophic lateral sclerosis (ALS), also referred to as "Lou Gehrig's disease," is a progressive motor neuron disease which leads to problems with muscle control and movement. There are various types of ALS, which are distinguished by their signs and symptoms and their cause. Early symptoms may include muscle twitchin...
This condition is considered to have an autosomal dominant pattern of inheritance, which means one copy of the altered CACNA1C gene in each cell is sufficient to cause the disorder. Most cases result from new mutations in the gene, and occur in people with no history of the disorder in their family. Less commonly, peop...
What are the signs and symptoms of Ainhum? The Human Phenotype Ontology provides the following list of signs and symptoms for Ainhum. 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 defin...
These resources address the diagnosis or management of Aarskog-Scott syndrome: - Genetic Testing Registry: Aarskog syndrome - MedlinePlus Encyclopedia: Aarskog syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug The...
Autosomal recessive pseudohypoaldosteronism type 1 is a disorder of electrolyte metabolism characterized by excess loss of salt in the urine and high concentrations of sodium in sweat, stool, and saliva. The disorder involves multiple organ systems and is especially dangerous in the newborn period. Laboratory tests may...
How might infections in individuals with epidermolysis bullosa be treated? The chance of contracting a skin infection can be reduced by good nutrition, which builds the bodys defenses and promotes healing, and by careful skin care with clean hands and use of sterile materials. For added protection, a doctor may recomme...
What are the signs and symptoms of Glaucoma 3 primary infantile B? The Human Phenotype Ontology provides the following list of signs and symptoms for Glaucoma 3 primary infantile B. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the Med...
Tarlov cysts may be drained and shunted to relieve pressure and pain, but relief is often only temporary and fluid build-up in the cysts will recur. Corticosteroid injections may also temporarily relieve pain. Other drugs may be prescribed to treat chronic pain and depression. Injecting the cysts with fibrin glue (a co...
Summary : Stem cells are cells with the potential to develop into many different types of cells in the body. They serve as a repair system for the body. There are two main types of stem cells: embryonic stem cells and adult stem cells. Stem cells are different from other cells in the body in three ways: - The...
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.
What causes X-linked adrenal hypoplasia congenita? X-linked adrenal hypoplasia congenita is caused by mutations in the NR0B1 gene. The NR0B1 gene provides instructions to make a protein called DAX1. This protein plays an important role in the development and function of several hormone-producing tissues including the a...
Juvenile polyposis 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. In approximately 75 percent of cases, an affected person inherits the mutation from one affected parent. The remaining 25 percent of cases result from ne...
What are the signs and symptoms of febrile ulceronecrotic Mucha-Habermann disease? Initial symptoms of FUMHD include red scaly skin legions (papules) that ulcerate, breakdown, form open sores, then a red-brown crust (i.e., PLEVA). In FUMHD the legions suddenly progress to large, destructive ulcers and can be associate...
Urinary tract infections (UTI) are a common bladder problem, especially as people age. UTIs are the second most common type of infection in the body. Each year, UTIs cause more than 8 million visits to health care providers. UTIs can happen anywhere in the urinary system (which includes the kidneys, bladder, and urethr...
Neuroleptic malignant syndrome is a rare neurological condition that is caused by an adverse reaction to neuroleptic (tranquilizer) or antipsychotic drugs. These drugs are commonly prescribed for the treatment of schizophrenia and other neurological, mental, or emotional disorders. Affected people may experience high f...
This condition is typically inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person inherits the mutation from one affected parent. A small percentage of cases result from new mutations in one of the genes d...
How is hereditary fructose intolerance (HFI) inherited? HFI is inherited in an autosomal recessive manner, which means alterations (mutations) are present in both copies of the ALDOB gene. The parents of an individual with HFI each carry one copy of the mutated gene, but they typicaly do not show signs and symptoms of ...
Pseudocholinesterase deficiency is a condition that results in increased sensitivity to certain muscle relaxant drugs used during general anesthesia, called choline esters. These fast-acting drugs, such as succinylcholine and mivacurium, are given to relax the muscles used for movement (skeletal muscles), including the...
Your colon, also known as the large intestine, is part of your digestive system. It's a long, hollow tube at the end of your digestive tract where your body makes and stores stool. Many disorders affect the colon's ability to work properly. Some of these include - Colorectal cancer - Colonic polyps - extra t...
Campylobacter infection is a common foodborne illness. You get it from eating raw or undercooked poultry. You can also get it from coming in contact with contaminated packages of poultry. Symptoms include - Diarrhea - Cramping - Abdominal pain - Fever - Nausea and vomiting Some infected people...
These resources address the diagnosis or management of Potocki-Shaffer syndrome: - Genetic Testing Registry: Potocki-Shaffer syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation ...
Congenital bilateral absence of the vas deferens occurs in males when the tubes that carry sperm out of the testes (the vas deferens) fail to develop properly. Although the testes usually develop and function normally, sperm cannot be transported through the vas deferens to become part of semen. As a result, men with t...
The daily amounts used by the study researchers were 500 milligrams of vitamin C, 400 International Units of vitamin E, 15 milligrams of beta-carotene, 80 milligrams of zinc as zinc oxide, and 2 milligrams of copper as cupric oxide. Copper was added to the AREDS formulation containing zinc to prevent copper deficiency ...
These resources address the diagnosis or management of Pompe disease: - Baby's First Test - Gene Review: Gene Review: Glycogen Storage Disease Type II (Pompe Disease) - Genetic Testing Registry: Glycogen storage disease type II, infantile - Genetic Testing Registry: Glycogen storage disease, type II These resourc...
There is no cure for INAD and no treatment that can stop the progress of the disease. Treatment is symptomatic and supportive. Doctors can prescribe medications for pain relief and sedation. Physiotherapists and other physical therapists can teach parents and caregivers how to position and seat their child, and to exer...
Friedreich's ataxia is a rare inherited disease that causes progressive damage to the nervous system and movement problems. Neurological symptoms include awkward, unsteady movements, impaired sensory function, speech problems, and vision and hearing loss. Thinking and reasoning abilities are not affected.Impaired muscl...
What are the signs and symptoms of Leiner disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Leiner disease. 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 l...
How is 2q37 deletion syndrome inherited? Can it be a hidden trait? Most cases of 2q37 deletion syndrome are not inherited. They result from a chromosomal deletion that occurs as a random event during the formation of reproductive cells (eggs or sperm) or in early fetal development. Affected people typically have no his...
How is Freiberg's disease diagnosed? A diagnosis of Freiberg's disease is often suspected based on the presence of characteristic signs and symptoms. An X-ray, magnetic resonance imaging (MRI), and/or bone scan can then be ordered to confirm the diagnosis. Other testing such as laboratory studies may also be recommende...
The prognosis for people with MD varies according to the type and progression of the disorder. Some cases may be mild and progress very slowly over a normal lifespan, while others produce severe muscle weakness, functional disability, and loss of the ability to walk. Some children with MD die in infancy while others li...
ZAP70-related severe combined immunodeficiency (SCID) is an inherited disorder that damages the immune system. ZAP70-related SCID is one of several forms of severe combined immunodeficiency, a group of disorders with several genetic causes. Children with SCID lack virtually all immune protection from bacteria, viruses,...
There are a number of ways to treat prostate cancer, and the doctor will develop a treatment to fit each man's needs. The choice of treatment mostly depends on the stage of the disease and the grade of the tumor. But doctors also consider a man's age, general health, and his feelings about the treatments and their poss...
How is multiple myeloma diagnosed? A diagnosis of multiple myeloma may be suspected based on the presence of characteristic signs and symptoms. Additional testing can then be ordered to confirm the diagnosis. This may include: Specialized blood tests including immunoglobulin studies, complete blood count with different...
Epithelial basement membrane corneal dystrophy is a condition where the epithelium of the cornea (the outermost region of the cornea) loses its normal clarity due to a buildup of cloudy material. It gets its name from the unusual appearance of the cornea during an eye exam. This dystrophy occurs when the epithelium's b...
Rotor syndrome is a rare condition, although its prevalence is unknown.
How might Noonan syndrome be treated? Management generally focuses on the specific signs and symptoms present in each person. Treatments for the complications of Noonan syndrome (such as cardiovascular abnormalities) are generally standard and do not differ from treatment in the general population. Developmental disabi...
How might Noonan syndrome be treated? Management generally focuses on the specific signs and symptoms present in each person. Treatments for the complications of Noonan syndrome (such as cardiovascular abnormalities) are generally standard and do not differ from treatment in the general population. Developmental disabi...
Chromosome 8p deletion is a chromosome abnormality that affects many different parts of the body. People with this condition are missing genetic material located on the short arm (p) of chromosome 8 in each cell. The severity of the condition and the associated signs and symptoms vary based on the size and location of ...
When you're short of breath, it's hard or uncomfortable for you to take in the oxygen your body needs. You may feel as if you're not getting enough air. Sometimes mild breathing problems are from a stuffy nose or hard exercise. But shortness of breath can also be a sign of a serious disease. Many conditions can make...
Signs of childhood non-Hodgkin lymphoma include breathing problems and swollen lymph nodes. These and other signs may be caused by childhood non-Hodgkin lymphoma or by other conditions. Check with a doctor if your child has any of the following: - Trouble breathing. - Wheezing. - Coughing. - High-pitc...
Mutations in the GJA1 gene cause oculodentodigital dysplasia. The GJA1 gene provides instructions for making a protein called connexin43. This protein forms one part (a subunit) of channels called gap junctions, which allow direct communication between cells. Gap junctions formed by connexin43 proteins are found in man...
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.
Beare-Stevenson cutis gyrata syndrome is a genetic condition characterized by skin abnormalities (cutis gyrata, which causes a furrowed and wrinkled appearance, and acanthosis nigricans) and the premature fusion of certain bones of the skull (craniosynostosis). This early fusion prevents the skull from growing normall...
Treatment for individuals with PLS is symptomatic. Muscle relaxants such as baclofen, tizanidine, and the benzodiazepines may reduce spasticity. Other drugs may relieve pain and antidepressants can help treat depression. Physical therapy, occupational therapy, and rehabilitation may prevent joint immobility and slow mu...
In some cases, Fuchs endothelial dystrophy appears to be inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. When this condition is caused by a mutation in the COL8A2 gene, it is inherited in an autosomal dominant pattern. In addition, a...
These resources address the diagnosis or management of metatropic dysplasia: - Gene Review: Gene Review: TRPV4-Associated Disorders - Genetic Testing Registry: Metatrophic dysplasia These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Test...
A Clouding of the Lens in the Eye A cataract is a clouding of the lens in the eye that affects vision. The lens is a clear part of the eye that helps to focus light, or an image, on the retina. The retina is the light-sensitive tissue at the back of the eye. In a normal eye, light passes through the transparent lens to...
Alzheimer disease currently affects an estimated 2.4 million to 4.5 million Americans. Because the risk of developing Alzheimer disease increases with age and more people are living longer, the number of people with this disease is expected to increase significantly in coming decades.
These resources address the diagnosis or management of VMCM: - Gene Review: Gene Review: Multiple Cutaneous and Mucosal Venous Malformations - Genetic Testing Registry: Multiple Cutaneous and Mucosal Venous Malformations These resources from MedlinePlus offer information about the diagnosis and management of variou...
Mutations in the PTPN11, SOS1, RAF1, KRAS, NRAS and BRAF genes cause Noonan syndrome. Most cases of Noonan syndrome result from mutations in one of three genes, PTPN11, SOS1, or RAF1. PTPN11 gene mutations account for approximately 50 percent of all cases of Noonan syndrome. SOS1 gene mutations account for 10 to 15 pe...
Congenital disorders of glycosylation (CDG) are a group of inherited metabolic disorders that affect a process called glycosylation. Glycosylation is the complex process by which all human cells build long sugar chains that are attached to proteins, which are called glycoproteins. There are many steps involved in this ...
Tetralogy of Fallot is a complex congenital heart defect characterized by a large ventricular septal defect (hole between the right and left ventricles), pulmonary stenosis (narrowing of the valve and artery that connect the heart with the lungs), an overriding aorta (the aorta - the artery that carries oxygen-rich blo...
The exact prevalence of hyperparathyroidism-jaw tumor syndrome is unknown. Approximately 200 cases have been reported in the medical literature.
22q11.2 deletion syndrome is a spectrum disorder that includes conditions formerly called DiGeorge syndrome; velocardiofacial syndrome; conotruncal anomaly face syndrome; cases of Opitz G/BBB syndrome; and Cayler cardiofacial syndrome. The features and severity can vary greatly among affected people. Signs and symptoms...
How might Kyrle disease be treated? Kyrle disease is most often associated with a systemic disorder, although idiopathic cases without any associated disease have occurred. Therefore, treatment is typically directed toward the underlying condition when appropriate. For individuals in whom itching is a major problem, so...
Major depressive disorder, also called major depression or clinical depression, is characterized by a combination of symptoms that interfere with your ability to work, sleep, concentrate, eat, and enjoy activities you once liked. Major depression keeps a person from functioning normally. Dysthymic disorder, or dysthymi...
Olivopontocerebellar atrophy (OPCA) is a progressive condition characterized by the degeneration of nerve cells (neurons) in specific areas of the brain. It occurs in several neurodegenerative diseases, including multiple system atrophy (MSA) and inherited and non-inherited forms of ataxia. OPCA may also occur in peopl...
Greig cephalopolysyndactyly syndrome (GCPS) is a congenital disorder that affects development of the limbs, head, and face. Findings might include an extra finger or toe (polydactyly), fusion of the skin between the fingers or toes (syndactyly), widely spaced eyes (ocular hypertelorism), and an abnormally large head si...
Tetrasomy 18p is usually not inherited. The chromosomal change responsible for the disorder typically occurs as a random event during the formation of reproductive cells (eggs or sperm) in a parent of the affected individual, usually the mother. Most affected individuals have no history of the disorder in their family....
PSC can lead to various complications, including - deficiencies of vitamins A, D, E, and K - infections of the bile ducts - cirrhosisextensive scarring of the liver - liver failure - bile duct cancer
Alzheimers disease has three stages: early (also called mild), middle (moderate), and late (severe). Understanding these stages can help you care for your loved one and plan ahead. A person in the early stage of Alzheimers disease may find it hard to remember things, ask the same questions over and over, lose things, o...
Hearing loss can result from taking certain medications. "Ototoxic" medications damage the inner ear, sometimes permanently. Check with your doctor if you notice a problem while taking a medication.
Symptoms of polycythemia vera include headaches and a feeling of fullness below the ribs on the left side. Polycythemia vera often does not cause early signs or symptoms. It may be found during a routine blood test. Signs and symptoms may occur as the number of blood cells increases. Other conditions may cause the same...
How might multifocal choroiditis be treated? Multifocal choroiditis (MFC) is generally treated with steroid medication that can be taken orally or injected into the affected eye. These treatments may be successful in managing symptoms, though there is no permanent cure for the disease and symptoms may return. If a pers...
Townes-Brocks syndrome is a genetic condition that affects several parts of the body. The most common features of this condition are an obstruction of the anal opening (imperforate anus), abnormally shaped ears, and hand malformations that most often affect the thumb. Most people with this condition have at least two o...
What are the signs and symptoms of Neutrophil-specific granule deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Neutrophil-specific granule deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You...
Cartilage-hair hypoplasia is caused by mutations in the RMRP gene. Unlike many genes, the RMRP gene does not contain instructions for making a protein. Instead, a molecule called a noncoding RNA, a chemical cousin of DNA, is produced from the RMRP gene. This RNA attaches (binds) to several proteins, forming an enzyme c...
How is Arts syndrome inherited? Arts syndrome is inherited in an X-linked recessive pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only 1 X chromosome), a mutation in the only copy of the gene in each cell causes the disorder....
Diabetic mastopathy are noncancerous lesions in the breast most commonly diagnosed in premenopausal women with type 1 diabetes. The cause of this condition is unknown. Symptoms may include hard, irregular, easily movable, discrete, painless breast mass(es).
Most cases of Turner syndrome are not inherited. When this condition results from monosomy X, the chromosomal abnormality occurs as a random event during the formation of reproductive cells (eggs and sperm) in the affected person's parent. An error in cell division called nondisjunction can result in reproductive cells...
Mutations in the HSD17B3 gene cause 17-beta hydroxysteroid dehydrogenase 3 deficiency. The HSD17B3 gene provides instructions for making an enzyme called 17-beta hydroxysteroid dehydrogenase 3. This enzyme is active in the testes, where it helps to produce testosterone from a precursor hormone called androstenedione. ...
How might progressive multifocal leukoencephalopathy (PML) be treated? Currently, the best available therapy is reversal of the immune-deficient state. This can sometimes be accomplished by alteration of chemotherapy or immunosuppression. In the case of HIV-associated PML, immediately beginning anti-retroviral therapy ...
A peptic ulcer is a sore in the lining of your stomach or your duodenum, the first part of your small intestine. A burning stomach pain is the most common symptom. The pain - Starts between meals or during the night - Briefly stops if you eat or take antacids - Lasts for minutes to hours - Comes and goes...
Preventing perineal injury requires being aware of and taking steps to minimize the dangers of activities such as construction work or bike riding: - People should talk with their health care provider about the benefits and risks of perineal surgery well before the operation. - People who play or work...
How might loin pain hematuria syndrome be treated? Treatment of loin pain hematuria syndrome (LPHS) typically consists of pain management. Narcotics or oral opioids may be prescribed to help control pain. Patients with severe pain may need high-dose opioids daily and may occasionally require hospitalization for intrave...
The most common symptom of Mntriers disease is pain in the upper middle part of the abdomen. The abdomen is the area between the chest and hips. Other signs and symptoms of Mntriers disease may include - nausea and frequent vomiting - diarrhea - loss of appetite - extreme weight los...
What are the signs and symptoms of a urachal cyst? In most cases, urachal cysts are not associated with any signs or symptoms unless there are complications such as infection. Possible symptoms vary, but may include: Lower abdominal pain Fever Abdominal lump or mass Pain with urination Urinary tract infection Hematuria
Deafness and myopia syndrome is caused by mutations in the SLITRK6 gene. The protein produced from this gene is found primarily in the inner ear and the eye. This protein promotes growth and survival of nerve cells (neurons) in the inner ear that transmit auditory signals. It also controls (regulates) the growth of the...
Most individuals with RMDs recover completely and can avoid re-injury by changing the way they perform repetitive movements, the frequency with which they perform them, and the amount of time they rest between movements. Without treatment, RMDs may result in permanent injury and complete loss of function in the affecte...
What causes blue rubber bleb nevus syndrome? Currently the cause of blue rubber bleb syndrome is not known.
Limited cutaneous systemic sclerosis is a subtype of systemic sclerosis characterized by the association of Raynaud's phenomenon and skin fibrosis on the hands, face, feet and forearms. The exact cause of limited cutaneous systemic sclerosis is unknown, but likely originates from an autoimmune reaction which leads to o...
Familial paroxysmal nonkinesigenic dyskinesia is a very rare disorder. Its prevalence is estimated to be 1 in 5 million people.
Not all bladder control problems are alike. Some problems are caused by weak muscles, while others are caused by damaged nerves. Sometimes the cause may be a medicine that dulls the nerves. To help solve your problem, your doctor or nurse will try to identify the type of incontinence you have. It may b...
Gas is air in the digestive tract. Gas leaves the body when people burp through the mouth or pass gas through the anus*the opening at the end of the digestive tract where stool leaves the body. Everyone has gas. Burping and passing gas are normal. Many people believe that they burp or pass gas too ofte...
The mucopolysaccharidoses syndromes share many clinical features but have varying degrees of severity. Most individuals with a mucopolysaccharidosis syndrome generally experience a period of normal development followed by a decline in physical and mental function. Longevity is dependent upon the particular syndrome. Fo...
These resources address the diagnosis or management of monilethrix: - Genetic Testing Registry: Beaded hair These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - P...
How might oculopharyngeal muscular dystrophy be treated? Treatment of oculopharyngeal muscular dystrophy (OPMD) mainly focuses on the specific signs and symptoms present in each individual. Severe drooping of the eyelid (ptosis) may be treated with plastic surgery on the eyelid (blepharoplasty). The goal of this surger...
This condition is inherited in an X-linked recessive 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 gene in each cell is sufficient to cause the co...
Whiplash-a soft tissue injury to the neck-is also called neck sprain or neck strain. It is characterized by a collection of symptoms that occur following damage to the neck, usually because of sudden extension and flexion. The disorder commonly occurs as the result of an automobile accident and may include injury to in...
Lyme disease is treated with antibiotics under the supervision of a physician.
Mumps is an illness caused by the mumps virus. It starts with - Fever - Headache - Muscle aches - Tiredness - Loss of appetite After that, the salivary glands under the ears or jaw become swollen and tender. The swelling can be on one or both sides of the face. Symptoms last 7 to 10 days. Seriou...
These resources address the diagnosis or management of Knobloch syndrome: - American Academy of Ophthalmology: Eye Smart - Genetic Testing Registry: Knobloch syndrome 1 - JAMA Patient Page: Retinal Detachment - National Eye Institute: Facts About Retinal Detachment - Prevent Blindness America: Retinal Tears and De...
Pycnodysostosis is a rare condition characterized by moderate short stature (1.35m to 1.5m), increased density of the bones (osteosclerosis/osteopetrosis), underdevelopment of the tips of the fingers with absent or small nails, an abnomal collarbone (clavicle), distinctive facial features including a large head with a ...
NFJS/DPR results from mutations in the KRT14 gene. This gene provides instructions for making a protein called keratin 14. Keratins are tough, fibrous proteins that provide strength and resiliency to the outer layer of the skin (the epidermis). Researchers believe that keratin 14 may also play a role in the formation o...
Duane-radial ray syndrome is a rare condition whose prevalence is unknown. Only a few affected families have been reported worldwide.
The outcome for individuals with TOS varies according to type. The majority of individuals with TOS will improve with exercise and physical therapy. Vascular TOS, and true neurogenic TOS often require surgery to relieve pressure on the affected vessel or nerve.