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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)
Funded by The Federal Ministry for Economic Affairs and Energy; Grant: 01MD19013D, Smart-MD Project, Digital Technologies
A kitten that has difficulty in breathing is very likely also to suffer from colic (which can cause weight loss in the early development of a normal kitten), and a very small daily (or twice daily) dose of liquid paraffin (one or two drops placed on the tongue of the kitten, or 0.1 ml) should help to alleviate this problem. FCKS kittens who do not maintain weight are usually among the group which die, but many of them may simply be unable to feed properly due to colic, becoming increasingly weak and lethargic, and fading due to malnutrition as much as to the thoracic problems.
Colic has many causes, but in a kitten with respiratory difficulty it is possible that a malfunction during the breathing process leads the kitten to swallow air instead of taking it into its lungs. The GI tract fills with air while the lungs do not receive a proper air supply, preventing them from inflating fully. Pressure from the stomach exacerbates the condition. Treating for colic with liquid paraffin seems to shorten recovery time from 4–10 weeks to a matter of days.
Treatment is difficult to define given the number of different causes and the wealth of anecdotal information collected by and from cat breeders. Treatments have hitherto been based on the assumption that FCKS is caused by a muscular spasm, and their effectiveness is impossible to assess because some kittens will recover spontaneously without intervention.
Diaphragmatic spasm is easily tested for and treated by short term interruption of the Phrenic nerve. The nerve runs down the outside of the neck where the neck joins to the shoulder, within a bundle of muscles and tendons at this junction. The cluster can be pinched gently and held for a few seconds each time. Kittens with spasmodic FCKS will show almost immediate improvement, but the treatment may need to be repeated several times over a few days as the spasm may have a tendency to recur. [Um für diapragmatisch Sparmus zu prüfen, Sie müssen der Phrenikus finden (es heisst auch der Zwerchfellnerv), der lauft am aussen des Hals, wo der Hals trifft die Schulter. Da gibt es mehrere Muskeln und Sehnen–da es unmoeglich ist die Nerv allein zu finden bzw. kneifen, müssen Sie die ganze Menge zusammen ruhig kneifen für ein paar Sekunden. Wenn es doch diapragmatisch Spasmus ist und Sie das Phrenikus gut kneifest (manchmal aber nicht immer werde die Katze mit den hinteren Beinen kicken), sollen Sie sofort eine Verbesserung anschauen. Es kann sein, dass die Spasmus wieder kommt nachher im kommenden Tage—in dem Fall müssen Sie es nochmal machen. Wenn Sie aber keine Verbesserung siehst, ist der Problem dann leider etwas anders.]
Continuous positive air pressure (CPAP) is used in human babies with lung collapse, but this is impossible with kittens. It is possible that the success of some breeders in curing kittens by splinting the body, thus putting pressure on the ribcage, was successful as it has created the effect of positive air pressure, thus gradually re-inflating the lungs by pulling them open rather than pushing them open as is the case with CPAP.
Barrel chest generally refers to a , deep chest found on a man. A man described as barrel chested will usually have a naturally large ribcage, very round torso, large lung capacity, and can potentially have great upper body strength. It can sometimes be a sign of acromegaly (a syndrome resulting from excess levels of human growth hormone (HGH) in the body). It is most commonly related to osteoarthritis as individuals age. Arthritis can stiffen the chest causing the ribs to become fixed in their most expanded position, giving the appearance of a barrel chest.
Barrel chest also refers to an increase in the anterior posterior diameter of the chest wall resembling the shape of a barrel, most often associated with emphysema. There are two main causes of the barrel chest phenomenon in emphysema:
1. Increased compliance of the lungs leads to the accumulation of air pockets inside the thoracic cavity.
2. Increased compliance of the lungs increases the intrathoracic pressure. This increase in pressure allows the chest wall to naturally expand outward.
Barrel chest occurs naturally in native people who live at altitudes of over 5500 m, e.g. the Himalayas or the Andes. These natives also have polycythemia and other accommodations for high altitude life.
Currently there is no specific treatment for this condition. Management is supportive.
Brachycephaly can be corrected with a cranial remolding orthoses (helmet) which provide painless total contact over the prominent areas of the skull and leave voids over the flattened areas to provide a pathway for more symmetrical skull growth. Treatment generally takes 3–4 months, but varies depending on the infant's age and severity of the cranial asymmetry.
However studies by scientists in the Netherlands have found there was no significant difference over time between infants treated with helmets and infants left untreated. All parents of infants treated with helmets confirmed negative side effects including skin irritation and sweating.
This study focused only on patients with mild to moderate cases, the participation rate was only 21%, and there was a 73% reporting of fitting issues, calling into question the validity of the study. Incorrectly fit devices cannot be expected to yield results. Additionally, independent published research that examined the effectiveness of helmet therapy conclude that as many as 95% of
patients demonstrate an improvement in head shape symmetry following helmet therapy, and the American Orthotics and Prosthetics Association (AOPA) has serious concerns about the relevance and validity of this study.
The term squitten is generally used to refer to cats with the condition radial hypoplasia (underdeveloped radius bones) or foreleg micromelia (small forelegs) and related conditions known as radial aplasia (absent radius bones), radial agenesis (failure of radius bones to form) that produces stunted forelegs. The mutation sometimes occurs in the random-breeding population, particularly in inbred populations where recessive genes may be exhibited. Such cats have also been called twisty cats; In the late 1990s, several were deliberately bred at Karma Farms, a horse farm and cattery in Marshall, Texas, resulting in a public outcry against the operators of the farm.
Radial hypoplasia is related to one form of polydactyly, sometimes called patty feet or hamburger feet by cat lovers to distinguish them from thumb cat polydactyls. Ordinary mitten cat polydactyls are not affected.
Cats with radial hypoplasia or similar mutations often sit on their rump with their forelegs unable to touch the floor; this gives them a resemblance to a squirrel or kangaroo. This raises special care considerations for owners of affected cats. Kittens may be unable to knead effectively with their short forelegs; kneading is required to stimulate milk flow in the mother. The short or twisted forelegs cause mobility problems and such cats may adapt by using their hindlegs in a hopping gait.
A corresponding condition affecting the hind legs is called femoral hypoplasia and has only been reported three times in cats.
Typical characteristics of a squitten are short forelegs, with a short radius and ulna which may be twisted or absent, extra front toes, and normal-length hind legs.
Uncombable hair syndrome, also known as Pili trianguli et canaliculi, Spun-glass hair, and Cheveux incoiffables, is a rare structural anomaly of the hair with a variable degree of effect. It was first reported in the early 20th century and was described in the 1970s. It becomes apparent from as little as 3 months to up to 12 years of age.
Surgery is needed to prevent the closing of the coronal sutures from damaging brain development. In particular, surgeries for the LeFort III or monobloc midface distraction osteogenesis which detaches the midface or the entire upper face, respectively, from the rest of the skull, are performed in order to reposition them in the correct plane. These surgeries are performed by both plastic and oral and maxillofacial (OMS) surgeons, often in collaboration.
The hair is normal in quantity and is usually silvery-blond or straw-colored. It is disorderly, it stands out from the scalp, and cannot be combed flat. The underlying structural anomaly is longitudinal grooving of the hair shaft, which appears triangular in cross section. This is caused by mutations in one of three possible genes; "PADI3", "TGM" or "TCHH3." The characteristic hair shaft anomaly can be demonstrated in asymptomatic family members by scanning electron microscopy. To be noticeable, 50% of hairs must be affected by the structural abnormality. Improvement often occurs in later childhood. An autosomal dominant mode of inheritance has been suggested though an autosomal recessive pattern with varying degrees of penetrance has also been noted. The stiffness of the uncombable hair has been reasoned to be due to the triangular form of the hair shaft in cross section. It has been suggested that the condition may result from premature keratinization of the inner root sheath.
A squitten is a cat with unusually short forelegs and/or unusually long hind legs that resembles a squirrel. It is an example of a cat body type genetic mutation. The word is a portmanteau of squirrel and kitten.
The term kangaroo cat is also, rarely, used; this derives from a 1953 specimen known as the Stalingrad Kangaroo Cat.
Depending upon the treatment required, it is sometimes most appropriate to wait until later in life for a surgical remedy – the childhood growth of the face may highlight or increase the symptoms. When surgery is required, particularly when there is a severe disfiguration of the jaw, it is common to use a rib graft to help correct the shape.
According to literature, HFM patients can be treated with various treatment options such functional therapy with an appliance, distraction osteogenesis, or costochondral graft. The treatment is based on the type of severity for these patients. According to Pruzanksky's classification, if the patient has moderate to severe symptoms, then surgery is preferred. If patient has mild symptoms, then a functional appliance is generally used.
Patients can also benefit from a Bone Anchored Hearing Aid (BAHA).
There is no treatment for FTHS, though identification of TKS4 mutation as a causative factor may eventually provide new opportunities for neonatal screening in high-risk families.
There is no cure as of now. Treatment is directed towards the specific symptoms that are present in each individual. Individuals with hearing loss are able to get treated with hearing aids.
Nablus mask-like facial syndrome is a microdeletion syndrome triggered by a deletion at chromosome 8 q22.1 that causes a mask-like facial appearance in those affected.
It is characterized by a narrowing of the eyes, tight, glistening facial skin, and a flat, broad nose. Other features of the syndrome include malformed ears, unusual hair patterns on the scalp, bent fingers and toes and joint deformities in the hands and feet, unusual teeth, mild developmental delay, cryptorchidism, and a generally happy disposition. It is a rare genetic disorder by inheritance found in Palestinian people named after Nablus city in the West Bank. It is part of many new genetic disorders of newborns that is increasing exponentially in Arabs in recent years as reported by Centre for Arab Genomic Studies in Dubai.
There is no standard treatment for the hand malformations in Apert due to the differences and severity in clinical manifestations in different patients. Every patient should therefore be individually approached and treated, aiming at an adequate balance between hand functionality and aesthetics.
However, some guidelines can be given depending on the severity of the deformities.
In general it is initially recommended to release the first and fourth interdigital spaces, thus releasing the border rays.
This makes it possible for the child to grasp things by hand, a very important function for the child's development. Later the second and third interdigital spaces have to be released.
Because there are three handtypes in Apert, all with their own deformities, they all need a different approach regarding their treatment:
- Type I hand usually needs only the interdigital web space release. First web release is rarely needed but often its deepening is necessary. Thumb clynodactyly correction will be needed.
- In type II hands it is recommended to release the first and fifth rays in the beginning, then the second and the third interdigital web spaces have to be freed. The clynodactyly of the thumb has to be corrected as well. The lengthening of the thumb phalanx may be needed, thus increasing the first web space. In both type I and type II, the recurrent syndactyly of the second web space will occur because of a pseudoepiphysis at the base of the index metacarpal. This should be corrected by later revisions.
- Type III hands are the most challenging to treat because of their complexity. First of all, it is advised to release the first and fourth webspace, thus converting it to type I hand. The treatment of macerations and nail-bed infections should also be done in the beginning. For increasing of the first web space, lengthening of the thumb can be done. It is suggested that in severe cases an amputation of the index finger should be considered. However, before making this decision, it is important to weigh the potential improvement to be achieved against the possible psychological problems of the child later due to the aesthetics of the hand. Later, the second and/or third interdigital web space should be released.
With growing of a child and respectively the hands, secondary revisions are needed to treat the contractures and to improve the aesthetics.
Pitt–Hopkins syndrome is a rare genetic disorder characterized by developmental delay, a wide mouth, distinctive facial features, and intermittent hyperventilation followed by apnea. It is associated with an abnormality within chromosome 18: specifically, it is caused by an insufficient expression of the TCF4 gene.
Hemifacial microsomia (HFM) is a congenital disorder that affects the development of the lower half of the face, most commonly the ears, the mouth and the mandible. It usually occurs on one side of the face, but both sides are sometimes affected. If severe, it may result in difficulties in breathing due to obstruction of the trachea—sometimes even requiring a tracheotomy. With an incidence in the range of 1:3500 to 1:4500, it is the second most common birth defect of the face, after cleft lip and cleft palate. HFM shares many similarities with Treacher Collins syndrome.
Brachycephaly (from Greek roots meaning "short" and "head") is the shape of a skull shorter than typical for its species. It is perceived as a desirable trait in some domesticated dog and cat breeds, such as pugs, and can be normal or abnormal in other animal species. In humans, the cephalic disorder is known as flat head syndrome, and results from premature fusion of the coronal sutures (see craniosynostosis) or from external deformation (see plagiocephaly). The coronal suture is the fibrous joint that unites the frontal bone with the two parietal bones of the skull. The parietal bones form the top and sides of the skull. This feature can be seen in Down syndrome.
In anthropology, human populations have been characterized as either dolichocephalic (long headed), mesaticephalic (moderate headed), or brachycephalic (short headed). The usefulness of the cephalic index was questioned by Giuseppe Sergi, who argued that cranial morphology provided a better means to model racial ancestry. The incidence of brachycephaly in people has increased since the advent of sudden infant death syndrome recommendations for parents to keep their babies on their backs. It is considered a cosmetic problem. Many pediatricians remain unaware of the issue and possible treatments. Treatments include regular prone repositioning of babies ("tummy time").
There are also cases of brachycephaly associated with plagiocephaly. Brachycephaly with plagiocephaly is positional and has become more prevalent since the "Back to Sleep" Campaign.The Back to Sleep campaign began in 1994 as a way to educate about ways to reduce the risk for sudden infant death syndrome (SIDS). The campaign was named for its recommendation to place healthy babies on their backs to sleep. Placing babies on their backs to sleep reduces the risk for SIDS, also known as "cot death" or "crib death." This campaign has been successful in promoting infant back sleeping and other risk-reduction strategies to parents, family members, child care providers, health professionals, and all other caregivers of infants, at a cost of increasing the incidence of this deformation of the head.
Brachycephaly also describes a developmentally normal type of skull with a high cephalic index, such as in snub-nosed breeds of dog such as pugs, Shih Tzus, and bulldogs or cats such as the Persian, Exotic and Himalayan.
Following methods could serve as prevention: carrying the infant and tummy time.
The condition may improve to some extent as the baby grows, but in some cases, treatment can improve the shape of a baby’s head.
The treatment for Morquio syndrome consists of prenatal identification and of enzyme replacement therapy. On 12 February 2014, the US Food and Drug Administration approved the drug elosulfase alfa (Vimizim) for treating the disease.
Acrodysostosis also known as Arkless-Graham syndrome or Maroteaux-Malamut syndrome is a rare congenital malformation syndrome which involves shortening of the interphalangeal joints of the hands and feet, intellectual disability in approximately 90% of affected children, and peculiar facies. Other common abnormalities include short head (as measured front to back), small broad upturned nose with flat nasal bridge, protruding jaw, increased bone age, intrauterine growth retardation, juvenile arthritis and short stature. Further abnormalities of the skin, genitals, teeth, and skeleton may occur.
Most reported cases have been sporadic, but it has been suggested that the condition might be genetically related i.e. in an autosomal dominant mode of transmission. Both males and females are affected. The disorder has been associated with the older age of parents at the time of conception.
A PRKAR1A mutation has been identified in acrodysostosis with hormone resistance.
This disorder is present at birth, however, it may not be understood until several years after birth. Acrodysostosis affects males and females in almost similar numbers. It is difficult to determine the frequency of acrodysostosis in the population as many cases of this disorder cannot be diagnosed properly.
This syndrome was first described by Lehman et al. in 1977. This paper described a 14-year-old girl with a number of unusual findings. Her mother shared some of the same findings. Since then over a dozen additional cases have been reported.
No curative treatment against EV has been found yet. Several treatments have been suggested, and acitretin 0.5–1 mg/day for 6 months’ duration is the most effective treatment owing to antiproliferative and differentiation-inducing effects.
Interferons can also be used effectively together with retinoids.
Cimetidine was reported to be effective because of its depressing mitogen-induced lymphocyte proliferation and regulatory T cell activity features. A report by Oliveira "et al." showed that cimetidine was ineffective. Hayashi "et al." applied topical calcipotriol to a patient with a successful result.
As mentioned, various treatment methods are offered against EV; however, most importantly, education of the patient, early diagnosis, and excision of the tumoral lesions take preference to prevent the development of cutaneous tumors.