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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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King–Kopetzky syndrome is an auditory disability characterised by difficulty in hearing speech in the presence of background noise in conjunction with the finding of normal hearing test results.
It is an example of auditory processing disorder (APD) or "auditory disability with normal hearing (ADN)".
King–Kopetzky syndrome patients have a worse Social Hearing Handicap index (SHHI) than others, indicating they suffer a significant degree of speech-hearing disability.
The condition is named after Samuel J. Kopetzky, who first described the condition in 1948, and P. F. King, who first discussed the aetiological factors behind it in 1954.
It seems that somatic anxiety and situations of stress may be determinants of speech-hearing disability.
Some studies indicated an increased prevalence of a family history of hearing impairment in these patients. The pattern of results is suggestive that King-Kopetzky patients may be related to conditions of autosomal dominant inheritance.
Patients with unilateral hearing loss have difficulty in
- hearing conversation on their impaired side
- localizing sound
- understanding speech in the presence of background noise.
- interpersonal and social relations
- difficulty concentrating in large, open environments
In quiet conditions, speech discrimination is no worse than normal hearing in those with partial deafness; however, in noisy environments speech discrimination is almost always severe.
Known causes include physical trauma, acoustic neuroma, measles, labyrinthitis, microtia, meningitis, Ménière's disease, Waardenburg syndrome, mumps (epidemic parotitis), and mastoiditis.
Along with the four aspects of the disorder that give it its name, there are also other common symptoms:
- A downward slant of the forehead
- Delayed bone maturation
- Mental retardation
The ocular abnormalities are generally retinal coloboma and nystagmus.
MOMO syndrome is an extremely rare genetic disorder which belongs to the overgrowth syndromes and has been diagnosed in only six cases around the world, and occurs in 1 in 100 million births. The name is an acronym of the four primary aspects of the disorder: Macrosomia (excessive birth weight), Obesity, Macrocephaly (excessive head size) and Ocular abnormalities. It is unknown if it is a life-limiting condition. MOMO syndrome was first diagnosed in 1993 by Professor Célia Priszkulnik Koiffmann, a Brazilian researcher in the Genetic and Clinical Studies of neurodevelopmental disorders.
This syndrome's acronym is an intended pun. It refers to the traditionally tall and obese king of Carnivals, Momus—Rei Momo in Portuguese.
Cluttering is a speech and communication disorder that has also been described as a fluency disorder.
It is defined as:"Cluttering is a fluency disorder characterized by a rate that is perceived to be abnormally rapid, irregular, or both for the speaker (although measured syllable rates may not exceed normal limits). These rate abnormalities further are manifest in one or more of the following symptoms: (a) an excessive number of disfluencies, the majority of which are not typical of people with stuttering; (b) the frequent placement of pauses and use of prosodic patterns that do not conform to syntactic and semantic constraints; and (c) inappropriate (usually excessive) degrees of coarticulation among sounds, especially in multisyllabic words".
Cluttering (also called tachyphemia or tachyphrasia) is a speech and communication disorder characterized by a rapid rate of speech, erratic rhythm, and poor syntax or grammar, making speech difficult to understand.
Back pain is frequently mentioned as a TMS symptom, but Sarno defines TMS symptoms much more broadly than that:
- "Symptom type:" TMS symptoms include pain, stiffness, weakness, tingling, numbness, muscle contractures, cramps and other negative sensations, according to Sarno.
- "Symptom location:" In addition to the back, Sarno states that TMS symptoms can occur in the neck, knee, arms, wrists, and other parts of the body. Schechter states that the symptoms have a tendency to move to other parts of the body. He considers symptom movement an important indicator that the pain is from TMS.
Signs and symptoms of AIP can be variable. Severe and poorly localized abdominal pain is a very common symptom (found in 95% of those affected by AIP). Urinary signs and symptoms such as painful urination, urinary retention, urinary incontinence, or dark urine have also been known to occur. Psychiatric signs and symptoms of AIP may manifest as anxiety, paranoia, irritability, delusions, hallucinations, confusion, and depression. Signs that suggest increased activity of the sympathetic nervous system may be evident including tachycardia, hypertension, palpitations, orthostatic hypotension, sweating, restlessness, and tremor. Other neurologic signs and symptoms of AIP include seizures, peripheral neuropathy, abnormal sensations, chest pain, leg pain, back pain or headache, and coma. Nausea, vomiting, constipation, and diarrhea can also occur. Proximal muscle weakness typically beginning in the arms is characteristic; there can be muscle pain, tingling, numbness, weakness or paralysis; muscle weakness seen in AIP can progress to include the muscles of breathing causing respiratory failure and can be fatal.
AIP patients have an increased risk of developing hepatocellular carcinoma, melanoma, lymphoma, chronic hypertension, chronic kidney disease, and chronic pain.
There are various symptoms of colpocephaly and patients can experience effects ranging from mild to severe. Some patients do not show most of the symptoms related to colpocephaly, such as psychomotor abnormalilities and agenesis of the corpus callosum. In some cases, signs appear later on in life and a significant number of children suffer only from minor disabilities.
The following list includes common symptoms of colpocephaly.
- partial or complete agenesis of the corpus callosum
- intellectual disability
- motor abnormalities
- visual defects such as, crossing of the eyes, missing visual fields, and optic nerve hypoplasia
- spasticity
- seizures
- cerebral palsy
Intracranial abnormalities include:
- Microcephaly
- Agenesis of the corpus callosum
- Meningomyelocele
- Lissencephaly
- Periventricular leukomalacia (PVL)
- Enlargement of the cisterna magna
- Cerebellar hypoplasia
CHS is associated with respiratory arrests during sleep and, in some cases, to neuroblastoma (tumors of the sympathetic ganglia), Hirschsprung disease (partial agenesis of the enteric nervous system), dysphagia (difficulty swallowing) and anomalies of the pupilla. Other symptoms include darkening of skin color from inadequate amounts of oxygen, drowsiness, fatigue, headaches, and an inability to sleep at night. Those suffering from Ondine's curse also have a sensitivity to sedatives and narcotics, which makes respiration even more difficult. A low concentration of oxygen in the red blood cells also may cause hypoxia-induced pulmonary vasoconstriction and pulmonary hypertension, culminating in cor pulmonale or a failure of the right side of the heart. Associated complications may also include gastro-esophageal reflux, ophthalmologic issues, seizures, recurrent pneumonia, developmental delays, learning disabilities and episodes of fainting and temperature disregulation.
Alcohol-related dementia presents as a global deterioration in intellectual function with memory not being specifically affected, but it may occur with other forms of dementia, resulting in a wide range of symptoms. Certain individuals with alcohol-related dementia present with damage to the frontal lobes of their brain causing disinhibition, loss of planning and executive functions, and a disregard for the consequences of their behavior. Other types of alcohol-related dementia such as Korsakoff's Syndrome cause the destruction of certain areas of the brain, where changes in memory, primarily a loss of short term memory, are the main symptom. Most presentations of alcohol dementia are somewhere along the spectrum between a global dementia and Korsakoff's psychosis, and may include symptoms of both.
Individuals affected by alcohol-related dementia may develop memory problems, language impairment, and an inability to perform complex motor tasks such as getting dressed. Heavy alcohol abuse also damages the nerves in arms and legs, i.e. peripheral neuropathy, as well as the cerebellum that controls coordination thereby leading to the development of cerebellar ataxia. These patients frequently have problems with sensation in their extremities and may demonstrate unsteadiness on their feet.
Alcohol-related dementia can produce a variety of psychiatric problems including psychosis (disconnection from reality), depression, anxiety, and personality changes. Patients with alcoholic dementia often develop apathy, related to frontal lobe damage, that may mimic depression. People with alcoholism are more likely to become depressed than people without alcoholism, and it may be difficult to differentiate between depression and alcohol dementia.
Acute intermittent porphyria (AIP) is a genetic metabolic disorder affecting the production of heme, the oxygen-binding prosthetic group of hemoglobin. It is characterized by a deficiency of the enzyme porphobilinogen deaminase. Its inheritance is more commonly autosomal dominant; however, autosomal recessive forms of this disorder have occurred. Its incidence is estimated to be between 5 and 10 in 100,000.
Deaf-mute is a term which was used historically to identify a person who was either deaf using a sign language or both deaf and could not speak. The term continues to be used to refer to deaf people who cannot speak an oral language or have some degree of speaking ability, but choose not to speak because of the negative or unwanted attention atypical voices sometimes attract. Such people communicate using sign language. Some consider it to be a derogatory term if used outside its historical context; the preferred term today is simply "deaf".
Tension myositis syndrome (TMS), also known as tension myoneural syndrome or mindbody syndrome is a name given by John E. Sarno to a condition he describes as characterized by musculoskeletal and nerve symptoms, most notably back pain. Sarno, a Professor of Clinical Rehabilitation Medicine at New York University School of Medicine and Attending Physician at The Rusk Institute of Rehabilitation Medicine at New York University Medical Center, has described TMS in four books, and has stated that the condition may be involved in other pain disorders as well. The treatment protocol for TMS includes education, writing about emotional issues, resumption of a normal lifestyle and, for some patients, support meetings and/or psychotherapy. In 2007, David Schechter (a medical doctor and former student and research assistant of Sarno's) published a peer-reviewed study of TMS treatment showing a 54% success rate for chronic back pain. In terms of statistical significance and success rate, the study outperformed similar studies of other psychological interventions for chronic back pain.
The TMS diagnosis and treatment protocol are not accepted by the mainstream medical community. However, TMS and Sarno's treatment methods have received national attention, including a segment on ABC's "20/20"; an episode of "Larry King Live"; an interview with "Medscape"; and articles in "Newsweek", "The Seattle Times", and "The New York Times". Prominent medical doctors who support TMS treatment include Andrew Weil and Mehmet Oz. Notable patients treated for tension myositis syndrome include Senator Tom Harkin, John Stossel, Howard Stern, and Anne Bancroft.
Alcohol-related dementia is a broad term currently preferred among medical professionals. Many experts use the terms alcohol (or alcoholic) dementia to describe a specific form of ARD, characterized by impaired executive function (planning, thinking, and judgment). Another form of ARD is known as wet brain (Wernicke-Korsakoff syndrome), characterized by short term memory loss and thiamine (vitamin B1) deficiency. ARD patients often have symptoms of both forms, i.e. impaired ability to plan, apathy, and memory loss. ARD may occur with other forms of dementia (mixed dementia). The diagnosis of ARD is widely recognized but rarely applied, due to a lack of specific diagnostic criteria.
On many non-medical websites, the terms wet brain and alcohol-related dementia are often used interchangeably, creating significant confusion. Additionally, the term alcohol-induced persistent dementia is another non-specific name that is sometimes used.
Colpocephaly is a cephalic disorder involving the disproportionate enlargement of the occipital horns of the lateral ventricles and is usually diagnosed early after birth due to seizures. It is a nonspecific finding and is associated with multiple neurological syndromes, including agenesis of the corpus callosum, Chiari malformation, lissencephaly, and microcephaly. Although the exact cause of colpocephaly is not known yet, it is commonly believed to occur as a result of neuronal migration disorders during early brain development, intrauterine disturbances, perinatal injuries, and other central nervous system disorders. Individuals with colpocephaly have various degrees of motor disabilities, visual defects, spasticity, and moderate to severe intellectual disability.
No specific treatment for colpocephaly exists, but patients may undergo certain treatments to improve their motor function or intellectual disability.
Sufferers experience pain and swelling in the middle part of the foot and usually limp as a result. Patients that walk with a limp tend to walk with increased weight on the lateral side of the foot. Also, there can be tenderness over the navicular. Patients often complain of pain over the apex.
An X-ray of both feet is used to diagnose disease. The affected foot tends to have a sclerotic and flattened navicular bone.
The most obvious clinical sign of syringomyelia is pain. Dogs with CM alone do not seem to have signs, but some appear to have facial pain. Common symptoms in human patients include, severe headache and neck pain, dizziness, vertigo, disequilibrium, visual disturbances, ringing in the ears, difficulty swallowing, palpitations, sleep apnea, muscle weakness, impaired fine motor skills, chronic fatigue and painful tingling of the hands and feet, pruritus.
Central hypoventilation syndrome (CHS) is a respiratory disorder that results in respiratory arrest during sleep. CHS can either be congenital (CCHS) or acquired (ACHS) later in life. It is fatal if untreated. It is also known as Ondine's curse.
ACHS can develop as a result of severe injury or trauma to the brain or brainstem. Congenital cases are very rare and involve a failure of autonomic control of breathing. In 2006, there were only about 200 known cases worldwide. As of 2008, only 1000 total cases were known. The diagnosis may be delayed because of variations in the severity of the manifestations or lack of awareness in the medical community, particularly in milder cases. However, as there have been cases where asymptomatic family members also were found to have CCHS, it may be that these figures only reflect those found to require mechanical ventilation. In all cases, episodes of apnea occur in sleep, but in a few patients, at the most severe end of the spectrum, apnea also occurs while awake.
Although rare, cases of long-term untreated CCHS have been reported and are termed late onset CCHS (LO-CCHS). Cases that go undiagnosed until later life and middle age, although the symptoms are usually obvious in retrospect. There have, however, even been cases of LO-CCHS where family members found to have it have been asymptomatic. Again, lack of awareness in the medical community may cause such a delay. CCHS susceptibility is not known to be affected by gender.
Köhler disease (also spelled "Kohler" and referred to in some texts as Kohler disease I) is a rare bone disorder of the foot found in children between six and nine years of age. The disease typically affects boys, but it can also affect girls. It was first described in 1908 by Alban Köhler (1874–1947), a German radiologist.
It is caused when the navicular bone temporarily loses its blood supply. As a result, tissue in the bone dies and the bone collapses. When treated, it causes no long term problems in most cases although rarely can return in adults. As the navicular bone gets back to normal, symptoms typically abate.
In February 2010, the "Journal of the American Medical Association" reported that the 19-year-old king Tutankhamun may well have died of complications from malaria combined with Köhler disease II.
Convulsive symptoms include painful seizures and spasms, diarrhea, paresthesias, itching, mental effects including mania or psychosis, headaches, nausea and vomiting. Usually the gastrointestinal effects precede central nervous system effects.
Masticatory muscle myositis (MMM) is an inflammatory disease in dogs affecting the muscles of mastication (chewing). It is also known as atrophic myositis or eosinophilic myositis. MMM is the most common inflammatory myopathy in dogs. The disease mainly affects large breed dogs. German Shepherd Dogs and Cavalier King Charles Spaniels may be predisposed. There is a similar disease of the eye muscles found in Golden Retrievers. Symptoms of acute MMM include swelling of the jaw muscles, drooling, and pain on opening the mouth. Ophthalmic signs may include third eyelid protrusion, red eyes, and exophthalmos (protruding eyeballs). In chronic MMM there is atrophy of the jaw muscles, and scarring of the masticatory muscles due to fibrosis may result in inability to open the mouth (trismus). The affected muscles include the temporalis, masseter, and pterygoid muscles. The disease is usually bilateral.
MMM is caused by the presence of 2M fibers in the muscles of the jaw. 2M fibers are not found elsewhere in the body. The immune system recognizes these proteins as foreign to the body and attacks them, resulting in inflammation. Diagnosis of MMM is through either biopsy of the temporalis or masseter muscles or the 2M antibody assay, in which blood serum of the possible MMM-dog is reacted with temporalis tissue of a normal dog, or both. False negatives by the 2M antibody assay may be obtained if MMM is end-stage with destruction of type 2M fibers and marked fibrosis. Treatment is usually with corticosteroids such as prednisone, often with decreasing doses for up to 4–6 months, and in the case of trismus, manual opening of the mouth under anesthesia. Feeding very soft or liquid food during this time is usually necessary. The ultimate degree of recovery of jaw function and muscle mass will depend upon the extent of damage to the muscle tissue. Recurrence of MMM may occur. Misdiagnosis of MMM as a retroorbital abscess based on physical examination and finding of trismus leads to inappropriate treatment with antibiotics, which will not impede the progress of MMM.
The symptoms most commonly feigned include those associated with mild head injury, fibromyalgia, chronic fatigue syndrome, and chronic pain. Generally, malingerers complain of psychological disorders such as anxiety. Malingering may take the form of dishonest complaints of chronic whiplash pain from automobile accidents. The psychological symptoms experienced by survivors of disaster (post-traumatic stress disorder) are also faked by malingerers.
Individuals use a variety of methods to feign symptoms of illness. Some of these include harming oneself, trying to convince medical professionals one has a disease after learning about its details (such as symptoms) in medical textbooks, taking drugs that provoke certain symptoms common in some diseases, performing excess exercise to induce muscle strain or other physical types of ailments, and overdosing on drugs.