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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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Beat deafness is a form of congenital amusia characterized by a person's inability to distinguish musical rhythm or move in time to it.
Generally, humans have the ability to hear musical beat and rhythm beginning in infancy. Some people, however, are unable to identify beat and rhythm of music, suffering from what is known as beat deafness. Beat deafness is a newly discovered form of congenital amusia, in which people lack the ability to identify or “hear” the beat in a piece of music. Unlike most hearing impairments in which an individual is unable to hear any sort of sound stimuli, those with beat deafness are generally able to hear normally, but unable to identify beat and rhythm in music. Those with beat deafness are also unable to dance in step to any type of music. Even people who do not dance well can at least coordinate their movements to the song they are listening to, because they can easily keep time to the beat.
In dentistry, anodontia, also called anodontia vera, is a rare genetic disorder characterized by the congenital absence of all primary or permanent teeth. It is associated with the group of skin and nerve syndromes called the ectodermal dysplasias. Anodontia is usually part of a syndrome and seldom occurs as an isolated entity.
Congenital absence of permanent teeth can present as hypodontia, usually missing 1 or 2 permanent teeth, or oligodontia that is the congenital absence of 6 or more teeth. Congenital absence of all wisdom teeth, or third molars, is relatively common. Anodontia is the congenital absence of teeth and can occur in some or all teeth (partial anodontia or hypodontia), involve two dentitions or only teeth of the permanent dentition (Dorland's 1998). Approximately 1% of the population suffers from oligodontia. Many denominations are attributed to this anomaly: partial anodontia, hypodontia, oligodontia, the congenital absence, anodontia, bilateral aplasia. Anodontia being the term used in controlled vocabulary Medical Subject Headings (MeSH) from MEDLINE which was developed by the United States National Library of Medicine. The congenital absence of at least one permanent tooth is the most common dental anomaly and may contribute to masticator dysfunction, speech impairment, aesthetic problems, and malocclusion (Shapiro and Farrington 1983). Absence of lateral incisors represents a major stereotype. Individuals with this condition are perceived as socially most aggressive compared with people without anodontia (Shaw 1981).
In terms of the signs/symptoms of Fukuyama congenital muscular dystrophy it is characterized by a decrease in skeletal muscle tone as well as an impairment in brain and eye development.Initial symptoms of FCMD present in early infancy as decreased ability to feed. Marked differences in facial appearance occur due to decreased muscle tone. Further characteristics include:
- Seizures
- Delay in developmental
- Cardiac issues
- Swallowing difficulty
- Neurological problems
Fukuyama congenital muscular dystrophy also affects the nervous system and various associated parts. FCMD affects normal development of the brain producing a broadly smooth, bumpy shaped cortex named cobblestone lissencephaly as well as various other malformations, notably micropolygyria. Children also experience delayed myelination in the brain.
Al-Raqad syndrome (ARS) is a congenital autosomal recessive syndrome discovered by Jordanian physician Mohammad Al-Raqad.
It's characterized by:
- microcephaly
- growth delay
- Psycho-motor developmental delay
- congenital hypotonia.
Al-Raqad syndrome is caused by mutation of DCPS gene.
Auditory arrhythmia is the inability to rhythmically perform music, to keep time, and to replicate musical or rhythmic patterns. It has been caused by damage to the cerebrum or rewiring of the brain.
Fukuyama congenital muscular dystrophy (FCMD) is a rare, autosomal recessive form of muscular dystrophy (weakness and breakdown of muscular tissue) mainly described in Japan but also identified in Turkish and Ashkenazi Jewish patients, fifteen cases were first described on 1960 by Fukuyama.
FCMD mainly affects the brain, eyes, and muscles, in particular, the disorder affects development of the skeletal muscles leading to weakness and deformed appearances, and brain development is blunted affecting cognitive functioning as well as social skills. In 1995, the disorder was linked to mutations in a gene coding for the protein fukutin (the "FCMD" gene). Fukuyama congenital muscular dystrophy is the second most prevalent form of muscular dystrophy in Japan. One out of every 90 people in Japan is a heterozygous carrier.
An individual with this condition has an especially difficult time maintaining a steady beat, and even has difficulty following along to a steady rhythm. Before it was a known disorder, it was thought that these individuals were just severely uncoordinated, and therefore were unable to follow along with the music. It has been discovered recently that problems with rhythm in Schizophrenia, Parkinson's, and Attention Deficit Hyperactive Disorder are also found to have a correlation to rhythm deficiencies.
Ullrich congenital muscular dystrophy is a form of congenital muscular dystrophy.It is associated with variants of type VI collagen, it is commonly associated with muscle weakness and respiratory problems, though cardiac issues are not associated with this type of CMD. It is named after Otto Ullrich, who is also known for the Ullrich-Turner syndrome.
The presentation of Ullrich congenital muscular dystrophy in an affected individual is as follows:
- Muscle weakness
- Difficulty walking
- Contractures (neck)
- Joint looseness
Preauricular sinuses and cysts result from developmental defects of the first and second pharyngeal arches. This and other congenital ear malformations are sometimes associated with renal anomalies. They may be present in Beckwith–Wiedemann syndrome, and in rare cases, they may be associated with branchio-oto-renal syndrome.
Microcoria is a congenital disease in which the pupils of the subject are narrower than 2 mm in diameter. Microcoria is associated with juvenile-onset glaucoma. It is also associated with Pierson syndrome chararacterized by microcoria and congenital nephrotic syndrome. The defect is in the Laminin beta 2 gene on chromosome 3p21 which encodes a protein essential to the glomerular basement membrane.
It is also part of the known manifestations of a born infant to a mother suffering from uncontrolled hyperglycemia. Other symptoms include transposition of great vessels, respiratory distress secondary to surfactant defect, sacral agensis, jitteriness, irritability, and lethargy due to rebound fetal hypoglycemia. Congenital microcoria is an autosomal dominant trait. However, it can also occur sporadically.
They are divided into three types based on their location:
- commissural pits, which are small pits near the labial commissure of the mouth,
- a pit in the upper lip, in which case it may be called a midline sinus of the upper lip, and
- pits in the lower lip, in which case it may be called a congenital sinus of the lower lip.
In some cases commissural pits have been reported in combination with preauricaluar pits, which are near the ear.
Several terms are used to describe congenital abnormalities. (Some of these are also used to describe noncongenital conditions, and more than one term may apply in an individual condition.)
Occasionally a preauricular sinus or cyst can become infected.
Most preauricular sinuses are asymptomatic, and remain untreated unless they become infected too often. Preauricular sinuses can be excised with surgery which, because of their close proximity to the facial nerve, is performed by an appropriately trained, experienced surgeon (e.g. a specialist General Surgeon, a Plastic Surgeon, an otolaryngologist (Ear, Nose, Throat surgeon) or an Oral and Maxillofacial Surgeon).
A limb anomaly is called a dysmelia. These include all forms of limbs anomalies, such as amelia, ectrodactyly, phocomelia, polymelia, polydactyly, syndactyly, polysyndactyly, oligodactyly, brachydactyly, achondroplasia, congenital aplasia or hypoplasia, amniotic band syndrome, and cleidocranial dysostosis.
Congenital anomalies of the heart include patent ductus arteriosus, atrial septal defect, ventricular septal defect, and tetralogy of fallot.
Congenital anomalies of the nervous system include neural tube defects such as spina bifida, meningocele, meningomyelocele, encephalocele and anencephaly. Other congenital anomalies of the nervous system include the Arnold-Chiari malformation, the Dandy-Walker malformation, hydrocephalus, microencephaly, megalencephaly, lissencephaly, polymicrogyria, holoprosencephaly, and agenesis of the corpus callosum.
Congenital anomalies of the gastrointestinal system include numerous forms of stenosis and atresia, and perforation, such as gastroschisis.
Congenital anomalies of the kidney and urinary tract (CAKUT) include renal parenchyma, kidneys, and urinary collecting system.
Defects can be bilateral or unilateral, and different defects often coexist in an individual child
The classic triad for congenital rubella syndrome is:
- Sensorineural deafness (58% of patients)
- Eye abnormalities—especially retinopathy, cataract, and microphthalmia (43% of patients)
- Congenital heart disease—especially pulmonary artery stenosis and patent ductus arteriosus (50% of patients)
Other manifestations of CRS may include:
- Spleen, liver, or bone marrow problems (some of which may disappear shortly after birth)
- Intellectual disability
- Small head size (microcephaly)
- Eye defects
- Low birth weight
- Thrombocytopenic purpura
- Extramedullary hematopoiesis (presents as a characteristic blueberry muffin rash)
- Hepatomegaly
- Micrognathia
Children who have been exposed to rubella in the womb should also be watched closely as they age for any indication of:
- Developmental delay
- Autism
- Schizophrenia
- Growth retardation
- Learning disabilities
- Diabetes mellitus
- Glaucoma
Late congenital syphilis is a subset of cases of congenital syphilis. By definition, it occurs in children at or greater than 2 years of age who acquired the infection trans-placentally.
Symptoms include
- blunted upper incisor teeth known as Hutchinson's teeth
- inflammation of the cornea known as interstitial keratitis
- deafness from auditory nerve disease
- frontal bossing (prominence of the brow ridge)
- saddle nose (collapse of the bony part of nose)
- hard palate defect
- swollen knees
- saber shins
- short maxillae
- protruding mandible
A frequently-found group of symptoms is Hutchinson's triad, which consists of Hutchinson's teeth (notched incisors), keratitis and deafness and occurs in 63% of cases.
Treatment (with penicillin) before the development of late symptoms is essential.
Congenital cataracts occur in a variety of morphologic configurations, including lamellar, polar, sutural, coronary, cerulean, nuclear, capsular, complete, membranous.
Congenital cataracts refers to a lens opacity present at birth. Congenital cataracts cover a broad spectrum of severity: whereas some lens opacities do not progress and are visually insignificant, others can produce profound visual impairment.
Congenital cataracts may be unilateral or bilateral. They can be classified by morphology, presumed or defined genetic cause, presence of specific metabolic disorders, or associated ocular anomalies or systemic findings.
CCD causes persistent secretory diarrhea. In a fetus, it leads to polyhydramnios and premature birth. Immediately after birth, it leads to dehydration, hypoelectrolytemia, hyperbilirubinemia, abdominal distention, and failure to thrive.
Prosthetic replacement of missing teeth is possible using dental implant technology or dentures. This treatment can be successful in giving patients with anodontia a more aesthetically pleasing appearance. The use of an implant prosthesis in the lower jaw could be recommended for younger patients as it is shown to significantly improve the craniofacial growth, social development and self-image. The study associated with this evidence worked with individuals who had ectodermal dysplasia of varying age groups of up to 11, 11 to 18 and more than 18 years. It was noted that the risk of implant failure was significantly higher in patients younger than 18 years, but there is significant reason to use this methodology of treatment in those older. Overall the use of an implant-prosthesis has a considerable functional, aesthetic and psychological advantage when compared to a conventional denture, in the patients.
Auditory agnosia is a form of agnosia that manifests itself primarily in the inability to recognize or differentiate between sounds. It is not a defect of the ear or "hearing", but a neurological inability of the brain to process sound meaning. It is a disruption of the "what" pathway in the brain. Persons with auditory agnosia can physically hear the sounds and describe them using unrelated terms, but are unable to recognize them. They might describe the sound of some environmental sounds, such as a motor starting, as resembling a lion roaring, but would not be able to associate the sound with "car" or "engine", nor would they say that it "was" a lion creating the noise. Auditory agnosia is caused by damage to the secondary and tertiary auditory cortex of the temporal lobe of the brain.
Hemimelia comprises
- Fibular hemimelia, Congenital longitudinal deficiency of the fibula or Fibular longitudinal meromelia
- Tibial hemimelia, Congenital longitudenal deficiency of the tibia, Congenital aplasia and dysplasia of the tibia with intact fibula, Congenital longitudinal deficiency of the tibia or Tibial longitudinal meromelia
- Radial Hemimelia, Congenital longitudinal deficiency of the radius, Radial clubhand, Radial longitudinal meromelia or Radial ray agenesis
- Ulnar hemimelia, Congenital longitudinal deficiency of the ulna, Ulnar clubhand or Ulnar longitudinal meromelia
A congenital lip pit or lip sinus is a congenital disorder characterized by the presence of pits and possibly associated fistulas in the lips. They are often hereditary, and may occur alone or in association with cleft lip and palate, termed Van der Woude syndrome.