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Deep Learning Technology: Sebastian Arnold, Betty van Aken, Paul Grundmann, Felix A. Gers and Alexander Löser. Learning Contextualized Document Representations for Healthcare Answer Retrieval. The Web Conference 2020 (WWW'20)
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Review of past cases, patients often do not exhibit many symptoms or obtain a diagnosis until they are around 20 to 40 years old. If the patient does show symptoms, it is most likely due to pressure from growth of the tumor. Depending on which part the epidermoid is pressing against can result in varying symptoms.
- Headaches – often worse in the morning or by changing positions; can be constant and become more severe or more frequent; not your typical headache
- Vision problems like blurred vision, double vision, or loss of peripheral vision
- Loss of sensation or movement in the arms, legs, or face
- Dizziness or difficulty with balance and walking, unsteadiness, vertigo
- Speech difficulties
- Confusion in everyday matters or disorientation
- Seizures, especially in someone who hasn’t had seizures before
- Hearing loss or buzzing or ringing in the ear
- Swallowing or speech difficulty
- Fatigue or sleepiness especially in children
Magnetic resonance imaging (MRI) and computed tomography (CT) brain scans can be used to identify these tumors.
Children affected by pilocytic astrocytoma can present with different symptoms that might include failure to thrive (lack of appropriate weight gain/ weight loss), headache, nausea, vomiting, irritability, torticollis (tilt neck or wry neck) difficulty to coordinate movements and visual complaints (including nystagmus). The complaints may vary depending on the location and size of the neoplasm. The most common symptoms are associated with increased intracranial pressure due to the size of the neoplasm.
Tumors within the nerve canaliculi initially present with unilateral sensorineural hearing loss, unilateral tinnitus, or disequilibrium (vertigo is rare, on account of the slow growth of neuromas). Speech discrimination out of proportion to hearing loss, difficulty talking on the telephone are frequent accompaniments. Tumors extending into the CPA will likely present with disequilibrium or ataxia depending on the amount of extension on the brainstem. With brainstem extension, midfacial and corneal hypesthesia, hydrocephalus, and other cranial neuropathies become more prevalent.
For example, involvement of CN V from a cerebellopontine mass lesion often results in loss of the ipsilateral (same side of the body) corneal reflex (involuntary blink).
Patients with larger tumours can develop Bruns nystagmus ('dancing eyes') due to compression of the flocculi.
The cerebellopontine angle is the anatomic space between the cerebellum and the pons filled with cerebrospinal fluid. This is a common site for the growth of acoustic neuromas or schwannomas. A distinct neurologic syndrome of deficits occurs due to the anatomic proximity of the cerebellopontine angle to specific cranial nerves. Indications include unilateral hearing loss (85%), speech impediments, disequilibrium, tremors or other loss of motor control.
Pilocytic astrocytoma or juvenile pilocytic astrocytoma or cystic cerebellar astrocytoma (and its variant juvenile pilomyxoid astrocytoma) is a brain tumor that occurs more often in children and young adults (in the first 20 years of life). They usually arise in the cerebellum, near the brainstem, in the hypothalamic region, or the optic chiasm, but they may occur in any area where astrocytes are present, including the cerebral hemispheres and the spinal cord. These tumors are usually slow growing and benign. The neoplasms are associated with the formation of a single (or multiple) cyst(s), and can become very large.
Pilocytic astrocytomas are often cystic, and, if solid, tend to be well-circumscribed. It is characteristically easily seen on Computed tomography (CT scans) and Magnetic Resonance Imaging (MRI).
Juvenile pilocytic astrocytoma is associated with neurofibromatosis type 1 (NF1), and optic gliomas are among the most frequently encountered tumors in patients with this disorder. The majority of pilocytic astrocytomas have a unique KIAA1549-BRAF fusion gene.
A pineal gland cyst is a usually benign (non-malignant) cyst in the pineal gland, a small endocrine gland in the brain. Historically, these fluid-filled bodies appeared on of magnetic resonance imaging (MRI) brain scans, but were more frequent at death, seen in of autopsies. A 2007 study by Pu "et al". found a frequency of 23% in brain scans (with a mean diameter of 4.3 mm).
It was once believed that smaller cysts (less than 5.0 mm) were usually asymptomatic, but for larger cysts (greater than 5.0 mm), symptoms could include headache, unexpected seizures, visual disturbances, memory loss, cognitive decline, muscle fasciculations, nausea, weakness, fatigue, light sensitivity, tinnitus, circadian rhythm dysfunction, or hydrocephalus if the cyst impinged on the superior colliculi or caused obstruction of the cerebral aqueduct. Newer research shows that the size of the cyst does not necessarily correlate to the presence of symptoms. In some cases, it will need to be removed before life-threatening situations occur.
Despite the pineal gland being in the center of the brain, due to recent advancements in endoscopic medicine, endoscopic brain surgery to drain and/or remove the cyst can be done with the patient spending 1-3 nights in the hospital, and being fully recovered in weeks, rather than a year, as is the case with open-skull brain surgery.
The National Organization for Rare Disorders states that pineal cysts larger than 5.0 mm are "rare findings" and are possibly symptomatic. If narrowing of the cerebral aqueduct occurs, many neurological symptoms may exist, including headaches, vertigo, nausea, muscle fasciculations, eye sensitivity, and ataxia. Continued monitoring of the cyst might be recommended to monitor its growth, and surgery may be necessary.
In a small population of people with larger, symptomatic cysts, the following comorbid conditions have been noted: Pseudotumor cerebri (elevated intracranial pressure), empy sella, hormonal disturbances, flattened optic discs, chiari malformation, sjogren's, POTS, dysautonomia, PCOS.
Symptoms are assessed on a case by case basis. Some cysts in the CNS can be asymptomatic (producing or showing no symptoms), depending on their location in the brain or spinal cord. If the cysts develop in critical areas of the central nervous system, they can present one or more of the following symptoms:
- Pressure in the spinal cord or brain
- Rupture of nerves around the cyst
- Weakness in specific parts of the body controlled by the cyst-infected brain region
- Inflammation
- Hydrocephalus
- Brainstem hemorrhage
- Seizures
- Visual disturbances and hearing Loss
- Headache
- Difficulty with balance or walking
In general, symptoms vary depending on the type of cyst and its location within the CNS.
A colloid cyst is a tumor containing gelatinous material in the brain. It is almost always found just posterior to the foramen of Monro in the anterior aspect of the third ventricle, originating from the roof of the ventricle. Because of its location, it can cause obstructive hydrocephalus and increased intracranial pressure. Colloid cysts represent 0.5–1% of intracranial tumors.
Symptoms can include headache, vertigo, memory deficits, diplopia, behavioral disturbances and in extreme cases, sudden death. Intermittency of symptoms is characteristic of this lesion. Untreated pressure caused by these cysts can result in brain herniation. Colloid cyst symptoms have been associated with 4 variables: cyst size, cyst imaging characteristics, ventricular size, and patient age. The developmental origin is unclear, though they may be of endodermal origin, which would explain the mucin-producing, ciliated cell type. These cysts can be surgically resected, and opinion is divided about the advisability of this.
Patients with arachnoid cysts may never show symptoms, even in some cases where the cyst is large. Therefore, while the presence of symptoms may provoke further clinical investigation, symptoms independent of further data cannot—and should not—be interpreted as evidence of a cyst's existence, size, location, or potential functional impact on the patient.
Symptoms vary by the size and location of the cyst(s), though small cysts usually have no symptoms and are discovered only incidentally. On the other hand, a number of symptoms may result from large cysts:
- Cranial deformation or macrocephaly (enlargement of the head), particularly in children
- Cysts in the suprasellar region in children have presented as bobbing and nodding of the head called bobble-head doll syndrome.
- Cysts in the left middle cranial fossa have been associated with ADHD in a study on affected children.
- Headaches. A patient experiencing a headache does not necessarily have an arachnoid cyst.
- In a 2002 study involving 78 patients with a migraine or tension-type headache, CT scans showed abnormalities in over a third of the patients, though arachnoid cysts only accounted for 2.6% of patients in this study.
- A study found 18% of patients with intracranial arachnoid cysts had non-specific headaches. The cyst was in the temporal location in 75% of these cases.
- Seizures
- Hydrocephalus (excessive accumulation of cerebrospinal fluid)
- Increased intracranial pressure
- Developmental delay
- Behavioral changes
- Nausea
- Hemiparesis (weakness or paralysis on one side of the body)
- Ataxia (lack of muscle control)
- Musical hallucination
- Pre-senile dementia, a condition often associated with Alzheimer's disease
- In elderly patients (>80 years old) symptoms were similar to chronic subdural hematoma or normal pressure hydrocephalus:
- Dementia
- Urinary incontinence
- Hemiparesis
- Headache
- Seizures
Patients with third ventricular colloid cysts become symptomatic when the tumor enlarges rapidly, causing CSF obstruction, ventriculomegaly, and increased intracranial pressure. Some cysts enlarge more gradually, however, allowing the patient to accommodate the enlarging mass without disruption of CSF flow, and the patient remains asymptomatic. In these cases, if the cyst stops growing, the patient can maintain a steady state between CSF production and absorption and may not require neurosurgical intervention.
This category of cysts takes over areas of necrotic tissue in the brain from injuries, diseases, or abnormalities, which occur due to the central nervous system's nonregenerative nature. These cysts can affect all germ layers of the CNS, but are most common in the arachnoid mater, and the ventricular space, which may block CSF pathways. These cysts can be static (stationary) or progressive. Some examples of cysts originating from the CNS tissue include:
- Arachnoid cysts (Leptomeningeal cysts)
- Ependymal cysts
- Cystic cerebellar astrocytomas
- Colloid cysts
Arachnoid cysts can be found on the brain or on the spine. Intracranial arachnoid cysts usually occur adjacent to the arachnoidal cistern. Spinal arachnoid cysts may be extradural, intradural, or perineural and tend to present with signs and symptoms indicative of a radiculopathy.
Arachnoid cysts may also be classified as primary (congenital) or secondary (acquired) and have been reported in humans, cats, and dogs.
Arachnoid cysts can be relatively or present with symptoms; for this reason, diagnosis is often delayed.
frequency:- rare type of cyst
It can occur at any age, mostly between 2nd and 3rd decade of life.
Diameter is 2 to 4 cm
swelling pain maybe present.
intra bony expansions may produce hard bony expansion.
may perforate cortical bones
also it extends to soft tissue
maybe asymptomatic
The calcifying odotogenic cyst or the Gorlin cyst, now known in the WHO Classification of Tumours as the calcifying cystic odontogenic tumor, is a benign odontogenic tumor of cystic type most likely to affect the anterior areas of the jaws. It is most common in people in their second to third decades but can be seen at almost any age. On radiographs, the calcifying odontogenic cyst appears as a unilocular radiolucency (dark area). In one-third of cases, an impacted tooth is involved. Microscopically, there are many cells that are described as "ghost cells", enlarged eosinophilic epithelial cells without nuclei.
Bronchogenic cysts are small, solitary cysts or sinuses, most typically located in the region of the suprasternal notch or over the manubrium.
These cysts are found most often in young adults and are rare in infancy. The usual symptoms are the result of compression by the cyst, e.g., difficulty breathing or swallowing, cough, and chest pain. Malignant degeneration has been reported in these cysts on rare occasions. Chest x-rays show a smooth density just in front of the trachea or main stem bronchi at the carinal level. When the cyst communicates with the tracheobronchial tree, the air-fluid level may be seen within the cyst.
CT scanning is useful in localizing these cysts.
If there are symptoms, people with empty sella syndrome can have headaches, as symptoms, which subsides when lying down. Additional symptoms are as follows:
- Abnormality (middle ear ossicles)
- Cryptorchidism
- Dolichocephaly
- Arnold-Chiari type I malformation
- Meningocele
- Patent ductus arteriosus
- Muscular hypotonia
- Platybasia
A Rathke's cleft cyst is a benign growth found on the pituitary gland in the brain, specifically a fluid-filled cyst in the posterior portion of the anterior pituitary gland. It occurs when the Rathke's pouch does not develop properly and ranges in size from 2 to 40mm in diameter.
Asymptomatic cysts are commonly detected during autopsies in 2 to 26 percent of individuals who have died of unrelated causes. Females are twice as likely as males to develop a cyst. If a cyst adds pressure to the optic chiasm, it may cause visual disturbances, pituitary dysfunction, and headaches. The majority of pituitary patients with chronic headaches have Rathke's Cleft Cysts. This is believed to be caused by the constant change in volume and the drastic changes in vasopressure from fluctuations in gonadotrophs and ADH.
The treatment of choice for symptomatic cysts is drainage and taking a biopsy. Radical excision is more dangerous because of the potential of damaging the patient's pituitary function e.g. ADH storage and lowering growth hormone production.
The afflicted may have relatively small amounts of pain that will quickly increase in severity over a time period of 6–12 weeks. The skin temperature around the bone may increase, a bony swelling may be evident, and movement may be restricted in adjacent joints.
Spinal lesions may cause quadriplegia and patients with skull lesions may have headaches.
There are two types of ESS: "primary" and "secondary".
- Primary ESS happens when a small anatomical defect above the pituitary gland increases pressure in the sella turcica and causes the gland to flatten out along the interior walls of the sella turcica cavity. Primary ESS is associated with obesity and increase in intracranial pressure in women.
- Secondary ESS is the result of the pituitary gland regressing within the cavity after an injury, surgery, or radiation therapy. Individuals with secondary ESS due to destruction of the pituitary gland have symptoms that reflect the loss of pituitary functions, such as intolerance to stress and infection.
Tarlov cysts are likely highly underdiagnosed as it was Isadore Tarlov's later research that led him to the understanding of their symptomology. Symptoms are based on the locations of the cysts along the spine, and follow general pathology of spinal injury:
- Pain
- Paresthesia
- Spasticity, Hypertonia
- Muscular Dysfunction or Weakness
- Radiculopathy
Although they are most frequently reported along sacral regions, they are rarely seen in other locations along the spine. Women are more likely to exhibit symptoms They can also appear in clusters or bilaterally along the spine, thus symptoms can be unilateral, bilateral, or with symptoms more dominant on one side. The cases of reported symptomatic Tarlov cysts ranges from 15% to 30% of the overall reported Tarlov cyst case, depending on the source of literature. Nevertheless, these cysts are important clinical entities because of their tendency to increase in size over time, potentially causing complications and eroding the surrounding bone tissue. Patients with symptomatic Tarlov cysts near the sacrum (and not other locations of the spine) can be divided into 4 categories, according to their experienced symptoms:
- Group 1 - Pain on tailbones that radiates to the legs with potential weakness;
- Group 2 - Pain on bones, legs, groin area, sexual dysfunctions, and dysfunctional bladder;
- Group 3 - Pain that radiate from the cyst site across hips to the lower abdomen;
- Group 4 - No pain, just sexual dysfunction and dysfunctional bladder.
Below are a list of commonly reported symptoms associated with sacral Tarlov cysts:
Back pain, perineal pain, secondary Sciatica, secondary piriformis muscle dysfunction with tertiary sciatica, Cauda equina syndrome, neurogenic claudication (pain caused by walking), neurogenic bladder, dysuria, urinary incontinence, coccygodynia, sacral radiculopathy, radicular pain, headaches, retrograde ejaculation, paresthesia, hypesthesia, secondary pelvic floor dysfunction, vaginismus, motor disorders in lower limbs and the genital, perineal, or lumbosacral areas, sacral or buttocks pain, vaginal or penile paraesthesia, Persistent Genital Arousal Disorder (PGAD) characterized by unwanted, unrelenting genital sensory awareness, itch or pain that can persist for days, months, even years), sensory changes over buttocks, perineal area, and lower extremity; difficulty walking; severe lower abdominal pain, bowel dysfunction, intestinal motility disorders like constipation or bowel incontinence.
The median palatal cyst is a rare cyst that may occur anywhere along the median palatal raphe. It may produce swelling because of infection and is treated by excision or surgical removal.
Some investigators now believe that this cyst represents a more posterior presentation of a nasopalatine duct cyst, rather than a separate cystic degeneration of epithelial rests at the line of fusion of the palatine shelves.
Aneurysmal bone cyst, abbreviated ABC, is an osteolytic bone neoplasm characterized by several sponge-like blood or serum filled, generally non-endothelialized spaces of various diameters.
The term is a misnomer, as the lesion is neither an aneurysm nor a cyst.