Archive for the ‘Diagnostic’ Category

postheadericon What is Ataxia? Causes, Symptoms and Treatment

AtaxiaNeuronal apoptosis in spinal cord and cerebellum causing muscle wasting. Causes, treatment and symptoms of ataxia. Friedreich’s ataxia.

Neurology .- The ataxia is a neurological disorder that is characterized by a progressive disease that leads to imbalance in walking and in showing the difficulty in performing and fine rhythmic movements. Trouble walking, muscle atrophy, nystagmus … your symptoms are caused by neuronal apoptosis in the CNS where their causes may be due to a tumor, infection, trauma, be inherited or a deficiency of vitamin B12.

What is ataxia and what are its causes?

Ataxia is a hereditary disease, specifically a gene abnormality called FXN (frataxin) located on chromosome 9 that affects the central nervous system (CNS) causing problems with speech and muscle wasting in which a person should only take a gene defective from each parent to eventually develop the disease. But there are more causes responsible for the progress of the disease:

Deficiency of vitamin B12.
Infections.
Trauma.
Tumor .

Among the neurological disorders, Friedreich’s ataxia is caused by degeneration of nerve tissue in the spinal cord and cerebellum (responsible for controlling voluntary movements ).

Ataxia Friedreich’s ataxia symptoms

This progressive neuronal apoptosis involves loss of movement coordination, ie, impaired motor coordination with a broad base of support “as drunk.” Symptoms of the disease usually manifests at an early age (from which one begins to walk) or develop very slowly, “incognito” hiding like normal cells and subsequently externalized:

Trouble walking. This is the first symptom to appear and as mentioned, being a progressive disorder, ataxia slowly gets worse and spreads to other parts of the body and the head, arms or trunk.
Muscular atrophy. As time goes on increasing muscle weakness and atrophy where it ends in deformity and muscle weakness are more noticeable in the feet and hands. The lack of coordination and various muscle problems leading to damage to the spine such as scoliosis.
Loss of reflexes in the tendons. This is exacerbated areflexia especially in knees, ankles and wrists together.
Gradual loss of the sense of touch. This is an injury that usually begins attacking the extremities (arms and legs) and slowly spread to other areas of the body.
Dysarthria ( language disorders ). One of the consequences of ataxia in speech problems where it becomes a dysarthric speech is, difficulty to properly move the muscles of the face and joints.
Heart disease. There are often palpitations, breathing difficulties and chest pains leading to cardiomyopathy, myocardial fibrosis or heart failure.
Nystagmus. Characterized by involuntary and uncontrolled movement of the eyes that can seriously affect vision.

The ataxia is easily fatigued and other common symptoms of the disease are vomiting, tinnitus and dizziness.
Treatment for ataxia

Today as in the case of many neurodegenerative diseases, there is no cure for this autosomal recessive disease, although there are treatments for many of its symptoms. Currently the treatment of ataxia include:

Advisory services.
Physiotherapy.
Speech Therapy.
Wheelchairs and other orthopedic aids.

“This loss of coordination can be caused by several different medical and neurological conditions: for this reason it is important that a person with ataxia seek medical attention to determine the underlying cause of the symptoms and get appropriate treatment” (National Ataxia Foundation).

postheadericon The Migraine Gene

The Migraine GeneResearchers have identified three genes associated with migraines and found that people who inherit one of these genes have a risk of ten to fifteen percent higher than the condition.

Migraines, an abnormality in the nerve cell response to stimuli, is characterized by severe headaches and recurrent, often resulting in nausea, as well as sensitivity to light and sounds.

By examining genetic data from more than 23,000 women, including 5.000 who suffered from migraines, the researchers found an association between headaches and variations in three genes: the TRPM8, which has to do with sensitivity to cold and pain; the LRP1, a gene that has to do with the transmission of signals between neurons, and PRDM16.

“Although not yet fully understood to migraines, and its underlying causes are difficult to determine, identify three genetic variants helps to illuminate the biological roots of this common and debilitating condition,” he said in a news release from the Brigham and Women’s, the study’s lead author, Dr. Daniel Chasman, assistant professor in the division of preventive medicine at the hospital and the Faculty of Medicine, Harvard. A migraine expert said the findings are “very exciting.”

“It was long thought that migraine is more commonly a disease of multiple genes, potentially contributing many genetic variations,” noted Dr. Audrey Halpern, assistant clinical professor of neurology department Langone Medical Center at NYU New York City. “Clearly now understand that migraine is a condition characterized by disorganized sensory processing.”

Although the study authors said the findings are encouraging, said that more research is needed to better understand how each of these three genes associated with migraine. Halpern concurred that more study needed to discover the genetics of migraine.

“This current research will help us understand more fully what happens in a migraine, but there is more to learn,” he said. “We’ve always known that it is a genetic condition, but in the last ten years we have learned that it is a neurological condition. This study brings together two ideas.”

postheadericon Restless and distracted child “Child Sick?

Restless and distracted childInterdisciplinary and individualized treatment are the keys to treating children with Attention Deficit Hyperactivity Disorder.

The interdisciplinary approach is characterized by teamwork of a group of professionals from different backgrounds. Allows professionals to have accurate information when making a diagnosis and treatment carry.

In the case of children who are brought for consultation for possible Attention Deficit, the interdisciplinary approach is a factor that significantly increases the quality and efficiency of potential treatments. ADD symptoms often resemble the symptoms of other entities, so it is sometimes difficult to diagnose and get wrong. To give a basic example, a child may be restless and not concentrate in school and have a problem with dyslexia, not ADD. The diagnosis of fine tuning is key, “says Dr. Alexia Rattazzi, chief of Psychiatry Children and the Institute of Cognitive Neurology (INEC).

Another point that warrants an interdisciplinary approach in attention disorders in children is comorbidity, which means “associated diseases.” “More than fifty percent of patients suffering from Attention Deficit associated disease. The most common anxiety disorder, mood disorders, conduct disorder and oppositional defiant disorder. Attention Deficit has to be addressed in a comprehensive and complete, considering the uniqueness of each case. It’s like making a custom suit, “says Dr. Claudio Waisburg, child neurologist and head of the Department of Child Neurology INECO.

The team of Psychiatry and Neurology Unit of INECO is formed by a group of neurologists, psychiatrists, neuropsychologists, neurolinguistics, cognitive psychologists and family therapists. “The first effort is the diagnosis. There are kids who need medication and therapy, others do not need medication, others who need social skills training. We spent a lot of energy to the diagnosis because the cost of being wrong on that is very high and because a correct diagnosis makes a difference in the quality of life of the child, “says Waisburg” The other mainstay of treatment is individualized care, which is deeply known boy try and adapt the therapeutic strategy chosen for the uniqueness of it and is very important for a child build a good relationship with the professionals who serve, “Rattazzi said.

ADHD: Patterns of alarm for parents

* Often does not pay attention to details or incurs careless mistakes in schoolwork
* Often does not seem to listen when spoken to directly
* Often avoids, dislikes or is reluctant to engage in tasks that require sustained mental effort (such as schoolwork or homework)
* Often loses things necessary for tasks or activities (eg toys, school supplies, tools)
* Often is easily distracted in daily activities
* Often fidgets with hands or feet or squirms in seat
* Often runs about or climbs excessively in situations in which it is inappropriate
* Often has difficulty playing quietly
* Often talks excessively
* Often blurts out answers before questions have been completed
* Often has difficulty awaiting turn
* Often interrupts conversations or other activities

postheadericon Granada neurologists find that thrombolysis provides an independent living provides 50% of patients after stroke

Granada neurologists find that thrombolysis provides an independent living provides 50% of patients after strokeNeurologists of the Hospital Virgen de las Nieves of Granada have found that the treatment of ischemic stroke thrombolysis can be raised from 30 to 50 percent the number of patients who are able to lead an independent life after three months of suffering heart attack brain.

Stroke or stroke is the sudden cessation of the blood flow to the brain and in Spain is the leading cause of death among women and second in men, explained the Head of Service of Neurology Hospital of Granada, Angel Ortega.
He noted that 80 percent of strokes are ischemic, caused by blockage of an artery, while the remaining 20 percent are hemorrhagic-due to rupture of an artery, “and added that thrombolysis, consisting of the application of a drug intravenously, can only be applied in the former case, since it seeks to dissolve the clot that caused the infarct.

Process coordinator stroke at the Hospital Virgen de las Nieves, José Maestre, stressed that, at present, thrombolysis is the only specific treatment for ischemic stroke and noted that only can be applied in the cases that come within three hours following the onset of first symptoms, and in patients with certain levels of stress and blood sugar, among other parameters. Master explained that the treatment applied since February 2002, since when they reached the hospital Granada 2,500 cases of ischemic stroke, of which only could apply thrombolysis in just over 1 percent, a percentage that would have risen to 10 percent whether patients had reached on time. Therefore, said it is critical that citizens become aware of the importance of early detection three characteristic symptoms of stroke, either ischemic or hemorrhagic, which are the deviation of the mouth, loss of strength and sensitivity in the body and difficulty speaking and understanding. He noted that since that thrombolysis can be applied is essential to take time with patients, it is essential that nurses give priority to the care of these patients.

In this regard, claimed the implementation of the Plan Board (Acute Stroke Plan), to coordinate the performance of the system to a case of stroke, announced by the Ministry of Health for a year and a half and has only up unofficially in the Virgen del Rocio Hospital in Seville, where he has been multiplied by three the number of patients arriving in time to be treated. Master said, according to statistics that handle a third of people who suffer an ischemic stroke die, another third have serious consequences and it exceeds 30 percent spontaneously, while the implementation of thrombolysis this percentage rises to 50 percent. He explained that since February 2002 have been treated with thrombolysis and 34 patients Granada, of which 11 disease went into complete “spontaneous” and 17 others through treatment, “which actually means that six people were cured. He stressed that although this number may seem “too small” treatment success would have a greater “impact” if you were holding more people in time.

Currently, thrombolysis is applied on an “interim” in about 40 hospitals in Spain as the European Medicines Agency has not yet finally authorized the use of the drug in which it is based.

postheadericon Molecular Diagnosis: Ethical And Procedural

Molecular DiagnosisIn the case of CMT1 and dell’HNPP the molecular genetic analysis often has the improvement of diagnostic significance: it becomes essential if there is no other way of reaching a definitive diagnosis, is the only way forward for prenatal screening and in any case a subject is not available to other investigations, may be required in the presymptomatic phase and therefore predictive purposes. Recommendations for the assay take into account this specific context (and so are not extendable to other genetically determined diseases).

The procedure

The test should be performed in specialized facilities where there are multi-disciplinary skills (geneticists, neurologists, social workers, psychologists, experts in ethical issues) and where to adequate follow-up to the patient, if this is possible, however, must be identified a physician in charge of overall patient care, can perform this function, other than occasionally. The laboratory performing the test must adhere to strict quality standards and reported. The answer must be in writing and indicate the method used by the laboratory and its informativeness. Read the rest of this entry »

postheadericon Diagnostic – Therapeutic

TherapeuticThe hereditary neuropathies are a group of diseases commonly found in clinical practice: the disease Charcot-Marie-Tooth (CMT) has a high prevalence, estimated at 1:2,500 [1,2], and is one of the most frequent pathologies hereditary. The recent and continuing advances in molecular genetics have radically changed the clinical approach. The genetic defect in some cases even fall within the definition of neuropathy diagnosis disease (eg, Charcot-Marie-Tooth type 1A, alterations of chromosome 17p) and at the molecular genetic investigation is now part of the diagnostic kit of peripheral neuropathies. It was therefore considered useful to summarize the information necessary for an orderly and rational approach to the diagnosis of hereditary neuropathy, for proper use of a sophisticated diagnostic tool which molecular analysis, and to avoid unnecessary and expensive tests.

The subject of these guidelines therefore consists of the diagnostic process of the disease Charcot-Marie-Tooth disease and related neuropathies (hereditary neuropathy with susceptibility to paralysis by compression [HNPP] and Dejerine-Sottas disease [DSS]) with in particular the role of molecular genetic investigations. Read the rest of this entry »

postheadericon Neurological Examination and Diagnostic Tests -part 3-

neurological examination and diagnostic testsBrain Blood Flow

A severe narrowing of the arteries that supply the brain carries the risk of stroke for the individual concerned. The risk is higher in the elderly or those with hypertension, diabetes and diseases of the heart’s arteries. To assess the arteries, the doctor places a stethoscope over the arteries of the neck and try to perceive the sound (murmur) that occurs after forced blood through the area in which it was narrowing. Accurate assessment requires more sophisticated tests such as Doppler ultrasound or cerebral angiography.

Procedures and Diagnostic Tests

Your doctor may order specific tests may be performed to confirm the diagnosis suggested by clinical history, mental status evaluation and physical examination. Read the rest of this entry »