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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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Patient will present with a slow growing, deep-seated, firm mass, often presenting bilaterally. There may be pain or tenderness, but this is rare.
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.
Elastofibroma, also called elastofibroma dorsi, is an ill-defined fibroelastic tumor-like condition made up of enlarged and irregular elastic fibers.
There are many subtypes of lipomas:
- Adenolipomas are lipomas associated with eccrine sweat glands.
- Angiolipoleiomyomas are acquired, solitary, asymptomatic nodules, characterized histologically by well-circumscribed subcutaneous tumors composed of smooth muscle cells, blood vessels, connective tissue, and fat.
- Angiolipomas are painful subcutaneous nodules having all other features of a typical lipoma.
- Cerebellar pontine angle and internal auditory canal lipomas
- Chondroid lipomas are deep-seated, firm, yellow tumors that characteristically occur on the legs of women.
- Corpus callosum lipoma is a rare congenital brain condition that may or may not present with symptoms. This occurs in the corpus callosum, also known as the calossal commissure, which is a wide, flat bundle of neural fibers beneath the cortex in the human brain.
- Hibernomas are lipomas of brown fat.
- Intradermal spindle cell lipomas are distinct in that they most commonly affect women and have a wide distribution, occurring with relatively equal frequency on the head and neck, trunk, and upper and lower extremities.
- Neural fibrolipomas are overgrowths of fibro-fatty tissue along a nerve trunk, which often leads to nerve compression.
- Pleomorphic lipomas, like spindle-cell lipomas, occur for the most part on the backs and necks of elderly men and are characterized by floret giant cells with overlapping nuclei.
- Spindle-cell lipomas are asymptomatic, slow-growing subcutaneous tumors that have a predilection for the posterior back, neck, and shoulders of older men.
- Superficial subcutaneous lipomas, the most common type of lipoma, lie just below the surface of the skin. Most occur on the trunk, thigh, and forearm, although they may be found anywhere in the body where fat is located.
Patients present with a slow-growing, painless, solitary mass, usually of the subcutaneous tissues. It is much less frequently noted in the intramuscular tissue. It is not uncommon for symptoms to be present for years.
Benign neoplasm with "BROWN FAT" is noted.
Spindle cell lipoma is an asymptomatic, slow-growing subcutaneous tumor that has a predilection for the posterior back, neck, and shoulders of older men.
This lesion has been called a fetal lipoma, lipoma of embryonic fat or a lipoma of immature fat.
A lipoma is a benign tumor made of fat tissue. They are generally soft to the touch, movable, and painless. They usually occur just under the skin but occasionally may be deeper. Most are less than 5 cm in size. Common locations include upper back, shoulders, and abdomen. A few people have a number of lipomas.
The cause is generally unclear. Risk factors include family history, obesity, and not enough exercise. Diagnosis is typically based on a physical exam. Occasionally medical imaging or tissue biopsy is used to confirm the diagnosis.
Treatment is typically by observation or surgical removal. Rarely the condition may recur following removal, however, this can generally be managed with repeat surgery. They are not generally associated with a future risk of cancer.
About 2% of people are affected. Lipomas typically occur in adults between 40 to 60 years of age. Males are more often affected than females. They are the most common non-cancerous soft tissue tumor. The first use of the term "lipoma" to describe these tumors was in 1709.
Intradermal spindle cell lipoma is distinct in that it most commonly affects women, and has a wide distribution, occurring with relatively equal frequency on the head and neck, trunk, and upper and lower extremities.
Benign lipoblastomatosis (also known as an "embryonic lipoma") is a tumor frequently confused with a liposarcoma, affecting exclusively infants and young children, with approximately 90% occurring before 3 years of age.
Angiolipoma is a subcutaneous nodule with vascular structure, having all other features of a typical lipoma. They are commonly painful.
Lipoblastoma is a type of subcutaneous benign fatty tumor.
Types include:
- Benign lipoblastomatosis, a tumor, also known as an embryonic lipoma, which usually occurs in children under three years old. This is the tumor of brown fat cells.
- Myxoid lipoblastoma, a cutaneous condition characterized by excess mucin
Almost all women present with uterine fibroids, approximately 76% with dermal manifestations and 10-16% with renal tumors.
The uterine fibroids tend to occur at younger age and larger and more numerous than in general population. They may be distinguishable from sporadic fibroids by special histological features such as prominent nucleoli with perinucleolar halos.
The skin presentation is of asymmetrical, reddish-brown nodules or papules with a firm consistency, predominantly located on the limbs (multiple cutaneous leiomyoma), although they may occur anywhere, including the face. The lesions, which are typically painful and most often present during the third decade of life, are piloleiomyomata—a benign smooth muscle tumour arising from the arrectores pilorum muscles of the skin. These tumours may also arise in the tunica dartos of the scrotum and the mammillary muscle of the nipple (genital leiomyoma), the smooth muscle of blood vessels (angioleiomyoma) and the lung (pulmonary lymphangioleiomyomatosis). A pseudo-Darier sign may be present.
The renal cell carcinoma tends to be of the papillary (type 2) form and tends to occur more commonly in women than men with this syndrome. These cancers present earlier than is usual for renal cell carcinomas (typically in the twenties and thirties) and to be at relatively advanced stages at presentation. Tumours have rarely been reported in children. These tumours occur in ~20% of those with this mutation suggesting that other factors are involved in the pathogenesis.
These tumors are painless masses that manifest as breast lumps and may be found on a mammogram.
An adipose tissue neoplasm is a neoplasm derived from adipose tissue.
An example is lipoma.
Mammary myofibroblastoma, abbreviated MMFB, (aka "Wargotz tumor") is a rare, benign tumor of the breast.
Reed’s syndrome (or familial leiomyomatosis cutis et uteri) is a rare inherited condition characterised by multiple cutaneous leiomyomas and, in women, uterine leiomyomas. It predisposes for renal cell cancer, an association denominated hereditary leiomyomatosis and renal cell cancer, and it is also associated with increased risk of uterine leiomyosarcoma. The syndrome is caused by a mutation in the fumarate hydratase gene, which leads to an accumulation of fumarate. The inheritance pattern is autosomal dominant.
TNF receptor associated periodic syndrome presents with the following signs and symptoms:
- Episodic fever
- Erythrocyte sedimentation rate(increased)
- Pericarditis
- Splenomegaly
- Uveitis
- Vertigo
Movement Disorder
- Dystonia
- Parkinsonism
- Chorea
- Ocular flutter
- Motor tics
Psychiatric Symptoms
- Agitation
- Emotional lability
- Psychosis
- Depression
Associated symptoms
- Encephalopathy
- Sleep disorder
- Reduced consciousness
- Mutism
The signs and symptoms of diastematomyelia may appear at any time of life, although the diagnosis is usually made in childhood. Cutaneous lesions (or stigmata), such as a hairy patch, dimple, Hemangioma, subcutaneous mass, Lipoma or Teratoma override the affected area of the spine is found in more than half of cases. Neurological symptoms are nonspecific, indistinguishable from other causes of cord tethering. The symptoms are caused by tissue attachments that limit the movement of the spinal cord within the spinal column. These attachments cause an abnormal stretching of the spinal cord.
The course of the disorder is progressive. In children, symptoms may include the "stigmata" mentioned above and/or foot and spinal deformities; weakness in the legs; low back pain; scoliosis; and incontinence. In adulthood, the signs and symptoms often include progressive sensory and motor problems and loss of bowel and bladder control. This delayed presentation of symptoms is related to the degree of strain placed on the spinal cord over time.
Tethered spinal cord syndrome appears to be the result of improper growth of the neural tube during fetal development, and is closely linked to spina bifida.
Tethering may also develop after spinal cord injury and scar tissue can block the flow of fluids around the spinal cord. Fluid pressure may cause cysts to form in the spinal cord, a condition called syringomyelia. This can lead to additional loss of movement, feeling or the onset of pain or autonomic symptoms.
Cervical diastematomyelia can become symptomatic as a result of acute trauma, and can cause major neurological deficits, like hemiparesis, to result from otherwise mild trauma.
The following definitions may help to understand some of the related entities:
- Diastematomyelia (di·a·stem·a·to·my·elia) is a congenital anomaly, often associated with spina bifida, in which the spinal cord is split into halves by a bony spicule or fibrous band, each half being surrounded by a dural sac.
- Myeloschisis (my·elos·chi·sis) is a developmental anomaly characterized by a cleft spinal cord, owing to failure of the neural plate to form a complete neural tube or to rupture of the neural tube after closure.
- Diplomyelia (diplo.my.elia) is a true duplication of spinal cord in which these are two dural sacs with two pairs of anterior and posterior nerve roots.
MRI: medial temporal lobe signal change bilateral hippocampal lesions, with signals that were hypointense in IR sequences and hyperintense in FLAIR.
Vertigo is a medically recognized term for the symptom of vestibular system disturbance. It may include a feeling of rotation or illusory sensations of motion or both. The general term dizziness is used by nonmedical people for those symptoms but often refers to a feeling of light-headedness, giddiness, drowsiness, or faintness, all of which must be differentiated from true vertigo, since the latter symptoms might have other causes.
Motion sickness occurs more frequently in migraine patients (30–50% more than in controls). Benign paroxysmal vertigo of childhood is an example of migraine-associated vertigo in which headache does not often occur. Basilar artery migraine (BAM) consists of two or more symptoms (vertigo, tinnitus, decreased hearing, ataxia, dysarthria, visual symptoms in both hemifields or both eyes, diplopia, bilateral paresthesias, paresis, decreased consciousness and/or loss of consciousness) followed by throbbing headache. Auditory symptoms are rare. However, a study showed a fluctuating low-tone sensorineural hearing loss in more than 50% of patients with BAM with a noticeable change in hearing just before the onset of a migraine headache. The attacks of vertigo are usually concurrent with the headache and the family history is usually positive. The diagnostician must rule out: TIAs, and paroxysmal vestibular disorder accompanied by headache.
There is also a familial vestibulopathy, familial benign recurrent vertigo (fBRV), where episodes of vertigo occur with or without migraine headache. Testing may show profound vestibular loss. The syndrome responds to acetazolamide. Familial hemiplegic migraine (FHM) has been linked to mutations in the calcium channel gene. (Ophoff et al. 1966 cf. Lempert et al.)
Benign tumors are very diverse, and may be asymptomatic or may cause specific symptoms depending on their anatomic location and tissue type. They grow outwards, producing large rounded masses, which can cause what is known as a "mass effect". This growth can cause compression of local tissues or organs, which can cause many effects such as blockage of ducts, reduced blood flow (ischaemia), tissue death (necrosis) and nerve pain or damage. Some tumors also produce hormones that can lead to life-threatening situations. Insulinomas can produce large amounts of insulin leading to hypoglycemia. Pituitary adenomas can cause elevated levels of hormones such as growth hormone and insulin-like growth factor-1, which cause acromegaly; prolactin; ACTH and cortisol, which cause Cushings disease; TSH, which causes hyperthyroidism; and FSH and LH. Bowel intussusception can occur with various benign colonic tumors. Cosmetic effects can be caused by tumors, especially those of the skin, possibly causing psychological effects on the person with the tumor. Vascular tumors can bleed, which in some cases can be substantial, leading to anemia.
TNF receptor associated periodic syndrome (also known as TRAPS,) is a periodic fever syndrome associated with mutations in a receptor for the molecule tumor necrosis factor (TNF) that is inheritable in an autosomal dominant manner. Individuals with TRAPS have episodic symptoms such as recurrent high fevers, rash, abdominal pain, joint/muscle aches and puffy eyes.