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The treatment, and therefore prognosis, varies depending upon the underlying tumour.
Foster–Kennedy syndrome (also known as Gowers–Paton–Kennedy syndrome, Kennedy's phenomenon or Kennedy's syndrome) refers to a constellation of findings associated with tumors of the frontal lobe.
Although "Foster–Kennedy syndrome" is equated with "Kennedy syndrome", it should not be confused with Kennedy disease, which is named for William R. Kennedy.
"Pseudo-Foster–Kennedy syndrome" is defined as one-sided optic atrophy with papilledema in the other eye but with the absence of a mass.
Respiratory complications are often cause of death in early infancy.
Marshall–Smith syndrome is not to be confused with:
- Marshall syndrome (aka.Periodic fever, aphthous stomatitis, pharyngitis and adenitis (PFAPA syndrome, see also: Periodic fever syndrome)
- Sotos (like) syndrome
- Weaver-Smith syndrome (WSS)
Roberts syndrome is an extremely rare condition that only affects about 150 reported individuals. Although there have been only about 150 reported cases, the affected group is quite diverse and spread worldwide. Parental consanguinity (parents are closely related) is common with this genetic disorder. The frequency of Roberts syndrome carriers is unknown.
A syndrome is a set of medical signs and symptoms occurring together, constitutes a particular disease or disorder. The word derives from the Greek σύνδρομον, meaning "concurrence". In some instances, a syndrome is so closely linked with a pathogenesis or cause that the words "syndrome", "disease", and "disorder" end up being used interchangeably for them. This is especially true of inherited syndromes. For example, Down syndrome, Wolf–Hirschhorn syndrome, and Andersen syndrome are disorders with known pathogeneses, so each is more than just a set of signs and symptoms, despite the "syndrome" nomenclature. In other instances, a syndrome is not specific to only one disease. For example, toxic shock syndrome can be caused by various toxins; premotor syndrome can be caused by various brain lesions; and premenstrual syndrome is not a disease but simply a set of symptoms.
If an underlying genetic cause is suspected but not known, a condition may be referred to as a genetic association (often just "association" in context). By definition, an association indicates that the collection of signs and symptoms occurs in combination more frequently than would be likely by chance alone.
Syndromes are often named after the physician or group of physicians that discovered them or initially described the full clinical picture. Such eponymous syndrome names are examples of medical eponyms. Recently, there has been a shift towards naming conditions descriptively (by symptoms or underlying cause) rather than eponymously, but the eponymous syndrome names often persist in common usage.
Nevo Syndrome is considered to be a rare disorder. Since its first appearance in 1974, only a handful of cases have been reported. Studies have shown showing similarities between Nevo Syndrome with Ehlers-Danlos syndrome as well as Sotos syndrome. There is an astounding overlap of phenotypic manifestations between Nevo Syndrome and the more frequent Sotos syndrome, which are both caused by the NSD1 deletion. Sotos syndrome is an autosomal dominant condition associated with learning disabilities, a distinctive facial appearance, and overgrowth. Studies have shown an overwhelming occurrence (half of those involved in the study) of Nevo syndrome in those individuals of Middle-Eastern descent.
Pashayan syndrome also known as Pashayan–Prozansky Syndrome, and blepharo-naso-facial syndrome is a rare syndrome. Facial abnormalities characterise this syndrome as well as malformation of extremities. Specific characteristics would be a bulky, flattened nose, where the face has a mask like appearance and the ears are also malformed.
A subset of Pashayan syndrome has also been described, known as "cerebrofacioarticular syndrome", "Van Maldergem syndrome'" or "Van Maldergem–Wetzburger–Verloes syndrome". Similar symptoms are noted in these cases as in Pashayan syndrome.
In medicine a broad definition of syndrome is used, which describes a collection of symptoms and findings without necessarily tying them to a single identifiable pathogenesis. The more specific definition employed in medical genetics describes a subset of all medical syndromes.
Costello syndrome, also called faciocutaneoskeletal syndrome or FCS syndrome, is a rare genetic disorder that affects many parts of the body. It is characterized by delayed development and delayed mental progression, distinctive facial features, unusually flexible joints, and loose folds of extra skin, especially on the hands and feet. Heart abnormalities are common, including a very fast heartbeat (tachycardia), structural heart defects, and overgrowth of the heart muscle (hypertrophic cardiomyopathy). Infants with Costello syndrome may be large at birth, but grow more slowly than other children and have difficulty feeding. Later in life, people with this condition have relatively short stature and many have reduced levels of growth hormones. It is a RASopathy.
Beginning in early childhood, people with Costello syndrome have an increased risk of developing certain cancerous and noncancerous tumors. Small growths called papillomas are the most common noncancerous tumors seen with this condition. They usually develop around the nose and mouth or near the anus. The most frequent cancerous tumor associated with Costello syndrome is a soft tissue tumor called a rhabdomyosarcoma. Other cancers also have been reported in children and adolescents with this disorder, including a tumor that arises in developing nerve cells (neuroblastoma) and a form of bladder cancer (transitional cell carcinoma).
Costello Syndrome was discovered by Dr Jack Costello, a New Zealand Paediatrician in 1977. He is credited with first reporting the syndrome in the Australian Paediatric Journal, Volume 13, No.2 in 1977.
Spanish researchers reported the development of a Costello mouse, with the G12V mutation, in early 2008. Although the G12V mutation is rare among children with Costello syndrome, and the G12V mouse does not appear to develop tumors as expected, information about the mouse model's heart may be transferrable to humans.
Italian and Japanese researchers published their development of a Costello zebrafish in late 2008, also with the G12V mutation. The advent of animal models may accelerate identification of treatment options.
A 2006 study followed 223 patients for a number of years. Of these, 15 died, with a median age of 65 years. The authors tentatively concluded that this is in line with a previously reported estimate of a shortened life expectancy of 10-15 years (12 in their data).
Overall, the estimated prevalence of Stickler syndrome is about 1 in 10,000 people. Stickler syndrome affects 1 in 7,500 to 9,000 newborns.
Stickler syndrome and Marshall syndrome have an autosomal dominant pattern of inheritance. However, there is a great deal of variation within and among families with regard to gene expression. Some may be more severely affected and others may be very mildly affected. Often these syndromes are not recognized in a family until a baby is born with Pierre Robin syndrome or some members have detached retinas or cataracts at a young age.
Both syndromes where correlated with mutations in the COL11A1 gene.
At this time, there are no other phenotypes (observable expressions of a gene) that have been discovered for mutations in the ESCO2 gene.
Nevo Syndrome is an autosomal recessive disorder. Most times in which a child is afflicted with Nevo Syndrome, both their parents are of average height and weight. It is only until after birth when the characteristic physical traits associated with disease are manifested, and the disorder is actually diagnosed. One study showed that despite the increased growth rates, the patient was completely healthy up until age 6, when he was admitted into the hospital. Nevo syndrome is usually associated with early childhood fatality. Children with Nevo Syndrome have a high occurrence of death due to cardiac arrest because their developing hearts cannot keep up with their overgrown body.
There is no medical treatment for either syndrome but there are some recommendations that can help with prevention or early identification of some of the problems. Children with either syndrome should have their hearing tested, and adults should be aware that the hearing loss may not develop until the adult years. Yearly visits to an ophthalmologist or other eye care professional who has been informed of the diagnosis of Stickler or Marshall syndrome is important for all affected individuals. Children should have the opportunity to have myopia corrected as early as possible, and treatment for cataracts or detached retinas may be more effective with early identification. Support for the joints is especially important during sports, and some recommend that contact sports should be avoided by those who have very loose joints.
Many professionals that are likely to be involved in the treatment of those with Stickler's syndrome, include anesthesiologists, oral and maxillofacial surgeons; craniofacial surgeons; ear, nose, and throat specialists, ophthalmologists, optometrists, audiologists, speech pathologists, physical therapists and rheumatologists.
The genetics of the Bannayan–Riley–Ruvalcaba syndrome is determined, in the majority of cases, via the PTEN gene which presents about 30 mutations in this condition. This gene which regulates cell growth, when "not" working properly can lead to hamartomas. PTEN chromosomal location is 10q23.31, while the molecular location is 87,863,438 to 87,971,930 There are many syndromes that are linked to PTEN aside from Bannayan–Riley–Ruvalcaba Syndrome.
The syndrome combines Bannayan–Zonana syndrome, Riley–Smith syndrome, and Ruvalcaba–Myhre–Smith syndrome. Bannayan–Zonana syndrome is named for George A. Bannayan and Jonathan Zonana
3C syndrome is very rare, occurring in less than 1 birth per million. Because of consanguinity due to a founder effect, it is much more common in a remote First Nations village in Manitoba, where 1 in 9 people carries the recessive gene.
In terms of treatment/management one should observe what signs or symptoms are present and therefore treat those as there is no other current guideline. The affected individual should be monitored for cancer of:
- Thyroid
- Breast
- Renal
Moore's lightning streaks are lightning type streaks (photopsia) (seen to the temporal side) due to sudden movement in the dark. They are generally caused by shock waves in the vitreous humor hitting the retina. The implication is that the vitreous is softer than normal, generally this is not a cause for alarm provided they are momentary, occur only in the dark and are due to sudden head movements (acceleration). Professional advice should be sought in cases of doubt, as retinal detachment, a serious condition, also can cause flashes in the eye.
They are named after Robert Foster Moore (1878–1963), a British ophthalmologist.
The specific cause of camptodactyly remains unknown, but there are a few deficiencies that lead to the condition. A deficient lumbrical muscle controlling the flexion of the fingers, and abnormalities of the flexor and extensor tendons.
A number of congenital syndromes may also cause camptodactyly:
- Jacobsen syndrome
- Beals Syndrome
- Blau syndrome
- Freeman-Sheldon syndrome
- Cerebrohepatorenal syndrome
- Weaver syndrome
- Christian syndrome 1
- Gordon Syndrome
- Jacobs arthropathy-camptodactyly syndrome
- Lenz microphthalmia syndrome
- Marshall-Smith-Weaver syndrome
- Oculo-dento-digital syndrome
- Tel Hashomer camptodactyly syndrome
- Toriello-Carey syndrome
- Stuve-Wiedemann syndrome
- Loeys-Dietz syndrome
- Fryns syndrome
- Marfan's syndrome
- Carnio-carpo-tarsal dysthropy
A study of certain aspects of motion sickness among medical transport attendants showed that the onset of the sopite syndrome is likely to occur independently of the mode of transportation; little difference was observed in the frequency of sopite symptoms for ground transport compared to air transport. Also, the length of time exposed to vehicular motion did not appear to affect the occurrence (or lack thereof) or severity of the sopite syndrome. No difference was observed in the incidence of the sopite syndrome for men versus women.
The sopite syndrome is likely a cumulative disorder. For instance, when a subject has the flu, a hangover may exacerbate the symptoms of the illness. A subject normally resistant to motion sickness may experience symptoms of motion sickness when also experiencing flu-like (or hangover-like) symptoms.
It can be detected by the naked eye as well as dental or skull X-Ray testing.