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Several different types of magnetic resonance imaging (MRI) may be employed in diagnosis: MRI without contrast, Gd contrast enhanced T1-weighted MRI (GdT1W) or T2-weighted enhanced MRI (T2W or T2*W). Non-contrast enhanced MRI is considerably less expensive than any of the contrast enhanced MRI scans. The gold standard in diagnosis is GdT1W MRI.
The reliability of non-contrast enhanced MRI is highly dependent on the sequence of scans, and the experience of the operator.
Criteria for CSF abnormalities:
- Increased opening pressure (> 200mm of H2O)
- Increased Leukocytes (>4/mm3)
- Elevated protein (>50 mg/dL)
- Decreased glucose (<60 mg/dL)
Tumor Markers:
- Carcinoembryonic antigin (CEA)
- alpha-fetoprotein
- beta-human chorionic gonadotropin
- carbohydrate antigen19-9
- creatine-kinase BB
- isoenzyme
- tissue polypeptide antigen
- beta2-microglobulin,
- beta-glucoronidase
- lactate dehydrogenase isoenzyme-5
- vascular endothelial growth factor
These markers can be good indirect indicator of NM but most are not sensitive enough to improve cytogical diagnosis.
Avoiding false-negative
- Draw CSF from symptomatic or radiographically demonstrated disease.
- Draw large amount of CSF (>10.5mL).
- Don't delay processing of specimen.
- Obtain at least 2 samples. The first sample has diagnostic sensitivity of 54% but with repeated sampling, diagnostic sensitivity is increased to 91%.
Ideal procedure for diagnosis:
Lumbar puntures --> cranial MRI --> spinal MRI --> radioisotope CSF flow --> ventricular or lateral cervical spine CSF analysis (if previous step yields no definitive answer)
Before the advent of MRI, electronystagmography and Computed Tomography were employed for diagnosis of acoustic neuroma.
The diagnosis of NM is based on the detection of malignant cells in the CSF, the demonstration of leptomeningeal tumor cell deposits on neuroimaging, or both. CSF examination is the most useful diagnostic tool for NM. Patients with suspected NM should undergo one or two lumbar punctures, cranial magnetic resonance imaging (MRI), spinal MRI, and a radioisotope CSF flow study to rule out sites of CSF block. If the cytology remains negative and radiological studies are not definitive, consideration may be given to ventricular or lateral cervical spine CSF analysis based on the suspected site of predominant disease. Consideration of signs, symptoms, and neuroimaging can help with the placement to where CSF is drawn. Median time of diagnosis from initial primary cancer diagnosis is between 76 days and 17 months. NM diagnosis has been increasing and will continue to increase due to better primary care and longer survival time of cancer patients.
Difficulties in Diagonsis:
NM is multifocal and CSF at a particular site may show no abnormalities if the pathological site is far away. Only 50% of those suspected with NM are actually diagnosed with NM and only the presence of malignant cells in the CSF is diagnosis conclusive.
Techniques:
- MRI: Meningeal findings are described with the following characteristics: Nodular meningeal tumor, meningeal thickening >3 mm and a subjectively strong contrast enhancement. A smooth contrast enhancement of the meninges was judged to be typical for inflammatory, nonneoplastic meningitis.
- CSF cytology: is performed after drawing the CSF by lumbar puncture.
- Cytogenetic: measures chromosomal content of cells and fluorescence in situ hybridization which detects numerical and structural genetic aberrations as a sign of malignancy. This is especially useful for liquid tumors such as leukemia and lymphoma. Some of the techniques that achieve this are flow cytometry and DNA single-cell cytometry. However, cytogenetic only assist in diagnosis and is less preferred.
- Meningeal Biopsy: may be performed when all of the above criteria is inconclusive. Biopsy is only effective when performed at the region where there's enhancement on the MRI.
Bilateral vestibular schwannomas are diagnostic of NF2.
NF II can be diagnosed with 65% accuracy prenatally with chorionic villus sampling or amniocentesis.
Ferner et al. give three sets of diagnostic criteria for NF2:
1. Bilateral vestibular schwannoma (VS) or family history of NF2 plus Unilateral VS or any two of: meningioma, glioma, neurofibroma, schwannoma, posterior subcapsular lenticular opacities
2. Unilateral VS plus any two of meningioma, glioma, neurofibroma, schwannoma, posterior subcapsular lenticular opacities
3. Two or more meningioma plus unilateral VS or any two of glioma, schwannoma and cataract.
Another set of diagnostic criteria is the following:
- Detection of bilateral acoustic neuroma by imaging-procedures
- First degree relative with NF II and the occurrence of neurofibroma, meningiomas, glioma, or Schwannoma
- First degree relative with NF II and the occurrence of juvenile posterior subcapsular cataract.
The criteria have varied over time.
The risk of meningioma can be reduced by maintaining a normal body weight, and by avoiding unnecessary dental x-rays.
The Gold Standard for diagnosis of vestibular schwannoma is without doubt enhanced magnetic resonance imaging (MRI) yet several examinations may arise suspicion of vestibular schwannomas.
Routine auditory tests may reveal a loss of hearing and speech discrimination (the patient may hear sounds in that ear, but cannot comprehend what is being said). Pure tone audiometry should be performed to effectively evaluate hearing in both ears. In some clinics the clinical criteria for follow up testing for AN is a 15 dB differential in thresholds between ears for three consecutive frequencies.
An auditory brainstem response test (a.k.a. ABR) is a much more cost effective screening alternative to MRI for those at low risk of AN. This test provides information on the passage of an electrical impulse along the circuit from the inner ear to the brainstem pathways. An acoustic neuroma can interfere with the passage of this electrical impulse through the hearing nerve at the site of tumor growth in the internal auditory canal, even when hearing is still essentially normal. This implies the possible diagnosis of an acoustic neuroma when the test result is abnormal. An abnormal auditory brainstem response test should be followed by an MRI. The sensitivity of this test is proportional to the tumor size - the smaller the tumor, the more likely is a false negative result; small tumors within the auditory canal will often be missed. However, since these tumors would usually be watched rather than treated, the clinical significance of overlooking them may be negligible.
Advances in scanning and testing have made possible the identification of small acoustic neuromas (those still confined to the internal auditory canal). MRI using as an enhancing contrast material is the preferred diagnostic test for identifying acoustic neuromas. The image formed clearly defines an acoustic neuroma if it is present and this technique can identify tumors measuring down to 5 millimeters in diameter (the scan spacing).
When an MRI is not available or cannot be performed, a computerized tomography scan (CT scan) with contrast is suggested for patients in whom an acoustic neuroma is suspected. The combination of CT scan and audiogram approach the reliability of MRI in making the diagnosis of acoustic neuroma.
Conditions which may be confused with NF include, LEOPARD syndrome, and Legius syndrome.
Observation with close imaging follow-up may be used in select cases if a meningioma is small and asymptomatic. In a retrospective study on 43 patients, 63% of patients were found to have no growth on follow-up, and the 37% found to have growth at an average of 4 mm / year. In this study, younger patients were found to have tumors that were more likely to have grown on repeat imaging; thus are poorer candidates for observation. In another study, clinical outcomes were compared for 213 patients undergoing surgery vs. 351 patients under watchful observation. Only 6% of the conservatively treated patients developed symptoms later, while among the surgically treated patients, 5.6% developed persistent morbid condition, and 9.4% developed surgery-related morbid condition.
Observation is not recommended in tumors already causing symptoms. Furthermore, close follow-up with imaging is required with an observation strategy to rule out an enlarging tumor.
Like most tumors in the brain, astroblastoma can be treated through surgery and various forms of therapy. Many publications within the last decade have suggested a noticeable improvement in success rate of patients. With the advancement of cutting-edge technology and novel approaches in stem cells, patients are hopeful that they be happy and healthy through old age.
The following factors influence an oncologist's specific treatment plan:
1. Patient's overall medical history
2. Localization and grade severity of the tumor
3. Age and tolerance to certain medications, procedures, and treatment
4. Predicted progress of recovery
5. Final anticipated outcome of treatment
A thorough medical history and physical examination, including a neurological examination, are the first steps in making a diagnosis. This alone may be sufficient to diagnose Bell's Palsy, in the absence of other findings. Additional investigations may be pursued, including blood tests such as ESR for inflammation, and blood sugar levels for diabetes. If other specific causes, such as sarcoidosis or Lyme disease are suspected, specific tests such as angiotensin converting enzyme levels, chest x-ray or Lyme titer may be pursued. If there is a history of trauma, or a tumour is suspected, a CT scan may be used.
Surgical removal of tumors is an option, however the risks involved should be assessed first. With regard to OPG (optic pathway gliomas), the preferred treatment is chemotherapy. However, radiotherapy isn't recommended in children who present with this disorder. It is recommended that children diagnosed with NF1 at an early age have an examination each year, which allows any potential growths or changes related to the disorder to be monitored.
Diagnostic methods vary, and are based on specific possible etiologies; however, an X-ray computed tomography scan of the face (or magnetic resonance imaging, or both) may be helpful.
The diagnosis of primary spinal cord tumors is difficult, mainly due to their symptoms, which in early stages mimic more common and benign degenerative spinal diseases. MRI and bone scanning are used for diagnostic purposes. This assesses not only the location of the tumor(s) but also their relationship with the spinal cord and the risk of cord compression.
There are several tests done to diagnose hemifacial spasm. Diagnosing a case of hemifacial spasm begins with a complete neurological exam, including an Electromyography (EMG – a test that measures and records electrical activity generated in muscle at rest and in response to muscle contraction), Magnetic resonance imaging (MRI – a test that uses magnetic waves to make pictures of structures inside the head), Computed tomography (CT scan – a type of x-ray that uses a computer to make pictures of structures inside the head), and Angiography (an x-ray exam of the blood vessels when they are filled with a contrast material).
Studies have shown that the most effective method of hemifacial spasm screening is MRI. In one study only 25% of the CT scans showed the abnormality in hemifacial spasm patients, whilst more than half of the MRI imaging demonstrated a vascular anomaly. MRI imaging should be the initial screening procedure in the assessment of patients with hemifacial spasm.
Diagnosis requires a neurological examination and neuroimaging can be helpful.
BVVL can be differentially diagnosed from similar conditions like Fazio-Londe syndrome and amyotrophic lateral sclerosis, in that those two conditions don't involve sensorineural hearing loss, while BVVL, Madras motor neuron disease, Nathalie syndrome, and Boltshauser syndrome do. Nathalie syndrome does not involve lower cranial nerve symptoms, so it can be excluded if those are present. If there is evidence of lower motor neuron involvement, Boltshauser syndrome can be excluded. Finally, if there is a family history of the condition, then BVVL is more likely than MMND, as MMND tends to be sporadic.
Genetic testing is able to identify genetic mutations underying BVVL.
In rare cases where large tumors infringe on the brainstem which controls motor nerves, with or without surgery, paralysis or death can result. This occurs in less than 1% of large tumors.
Surviving the symptoms of high-grade astroblastoma is not life-threatening, but a significant portion of patients die due to repeated recurrence of tumors as they continue to grow and spread. Unlike conventional low-grade tumors, high-grade tumors associate a plethora of factors when they metastasize to other areas of the body. Therefore, complications frequently occur after surgery is performed since an oncologist cannot efficiently control the tumor in a suitable time-frame. Cases in literature confirm that high-grade patients face up to five or six resection surgeries and "still" experience symptoms post-operatively. The dual-action of chemotherapy and radiotherapy can slow down recurrence when gross total resection is performed multiple times, but there is no guarantee that the tumor will ever be in remission.
A schwannoma is a usually-benign nerve sheath tumor composed of Schwann cells, which normally produce the insulating myelin sheath covering peripheral nerves.
Schwannomas are homogeneous tumors, consisting only of Schwann cells. The tumor cells always stay on the outside of the nerve, but the tumor itself may either push the nerve aside and/or up against a bony structure (thereby possibly causing damage). Schwannomas are relatively slow-growing. For reasons not yet understood, schwannomas are mostly benign and less than 1% become malignant, degenerating into a form of cancer known as neurofibrosarcoma. These masses are generally contained within a capsule, and so surgical removal is often successful.
Schwannomas can be associated with neurofibromatosis type II, which may be due to a loss-of-function mutation in the protein merlin. They are universally S-100 positive, which is a marker for cells of neural crest cell origin.
Schwannomas of the head and neck are a fairly common occurrence and can be found incidentally in 3–4% of patients at autopsy. Most common of these is a vestibular schwannoma, a tumor of the vestibulocochlear nerve that may lead to tinnitus and hearing loss on the affected side. Outside the cranial nerves, schwannomas may present on the flexor surfaces of the limbs. Rare occurrences of these tumors in the penis have been documented in the literature.
Verocay bodies are seen histologically in schwannomas.
There is no diagnostic test for alternating hemiplegia, which makes it very difficult to diagnose. Also, because alternating hemiplegia is extremely rare, it is frequently missed and the patient is often misdiagnosed. Proper diagnosis, however, is critical for early treatment of the disorder. There are many criteria that can help in the proper general diagnosis of alternating hemiplegia.
Choroid plexus papillomas are benign tumors that are usually cured by surgery; malignant progression has been rarely reported.
Weber's syndrome is the only form of alternating hemiplegia that is somewhat easy to diagnose beyond the general criteria. Although Weber's syndrome is rare, a child born with the disorder typically has a port-wine stain on the face around the eye. While the port-wine stain does not necessarily mean the child has Weber's syndrome, if the port-wine stain involves the ophthalmic division of the trigeminal nerve than the likelihood of it being weber's syndrome greatly increases. If a port-wine stain around the eye is found, the patient should be screened for intracranial leptomeningeal angiomatosis. Magnetic resonance imaging (MRI)can be used to determine the presence and severity while computed cranial tomography can be used to determine the effect. MRI is the preferred diagnostic test on children presenting with port-wine stain. Other imaging techniques can be used in addition to further determine the severity of the disorder. The initial diagnosis is made based on the presence of neurologic and ophthalmic disease but the disease progresses differently in each patient so after initial diagnosis the patient should be monitored frequently in order to handle further complications resulting from the syndrome.
Facial nerve paralysis may be divided into supranuclear and infranuclear lesions.