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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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Pork–cat syndrome is an allergy to pork, usually post adolescence, that is caused by exposure to cats. Although first described in 1994, it was first documented in the U.S. by Scott Commins and Thomas Platts-Mills during their research on alpha-gal allergy.
It is called "pork–cat syndrome" because "almost all people with the condition are cat owners, and many have multiple cats. Some develop an allergic response to cat serum albumin (protein made by a cat’s liver) that cross-reacts with albumin in pork when someone consumes it, and can lead to severe or even fatal allergic reactions when pork is consumed."
A typical allergic reaction to alpha-gal has a delayed onset, occurring 3–8 hours after the consumption of mammalian meat products, instead of the typical rapid onset with most food allergies. After the delayed onset, the allergic response is typical of most food allergies, and especially an IgE mediated allergy, including severe whole-body itching, hives, angioedema, gastrointestinal upset, and possible anaphylaxis. In 70% of cases the reaction is accompanied by respiratory distress and as such is particularly harmful to those with asthma.
Alpha-gal allergies are the first food allergies to come with the possibility of delayed anaphylaxis. It is also the first food-related allergy to be associated with a carbohydrate, rather than a protein.
The syndrome gets its name from the characteristic cry of affected infants, which is similar to that of a meowing kitten, due to problems with the larynx and nervous system. About 1/3 of children lose the cry by age of 2 years. Other symptoms of cri du chat syndrome may include:
- feeding problems because of difficulty in swallowing and sucking;
- low birth weight and poor growth;
- severe cognitive, speech, and motor delays;
- behavioral problems such as hyperactivity, aggression, outbursts, and repetitive movements;
- unusual facial features which may change over time;
- excessive drooling;
- small head and jaw;
- wide eyes;
- skin tags in front of eyes.
Other common findings include hypotonia, microcephaly, growth retardation, a round face with full cheeks, hypertelorism, epicanthal folds, down-slanting palpebral fissures, strabismus, flat nasal bridge, down-turned mouth, micrognathia, low-set ears, short fingers, single palmar creases, and cardiac defects (e.g., ventricular septal defect [VSD], atrial septal defect [ASD], patent ductus arteriosus [PDA], tetralogy of Fallot). Infertility is not associated with Cri du chat.
It has also been observed that people with the condition have difficulties communicating. While levels of proficiency can range from a few words to short sentences, it is often recommended by medical professionals for the child to undergo some sort of speech therapy/aid with the help of a professional.
Less frequently encountered findings include cleft lip and palate, preauricular tags and fistulas, thymic dysplasia, intestinal malrotation, megacolon, inguinal hernia, dislocated hips, cryptorchidism, hypospadias, rare renal malformations (e.g., horseshoe kidneys, renal ectopia or agenesis, hydronephrosis), clinodactyly of the fifth fingers, talipes equinovarus, pes planus, syndactyly of the second and third fingers and toes, oligosyndactyly, and hyperextensible joints. The syndrome may also include various dermatoglyphics, including transverse flexion creases, distal axial triradius, increased whorls and arches on digits, and a single palmar crease.
Late childhood and adolescence findings include significant intellectual disability, microcephaly, coarsening of facial features, prominent supraorbital ridges, deep-set eyes, hypoplastic nasal bridge, severe malocclusion, and scoliosis.
Affected females reach puberty, develop secondary sex characteristics, and menstruate at the usual time. The genital tract is usually normal in females except for a report of a bicornuate uterus. In males, testes are often small, but spermatogenesis is thought to be normal.
Symptoms of an allergic reaction to cats range from mild to severe, and include swollen, red, itchy, and watery eyes; nasal congestion, itchy nose, sneezing, chronic sore throat or itchy throat, coughing, wheezing, asthma, hay fever, hives or rash on the face or chest, or itchy skin. If a cat has scratched, licked, or bitten someone who is allergic to cats, redness and sometimes even swelling of the affected area will occur. For those severely allergic, a reaction may resemble that of someone with a severe food allergy, and such reactions require emergency medical care.
Alpha-gal allergy, also known as meat allergy or Mammalian Meat Allergy (MMA), is a reaction to galactose-alpha-1,3-galactose (alpha-gal), whereby the body is overloaded with immunoglobulin E (IgE) antibodies on contact with the carbohydrate. The alpha-gal molecule is found in all mammals apart from Old World monkeys and the apes, which include humans. Anti-Gal is a human natural antibody which interacts specifically with the mammalian carbohydrate structure Gal alpha 1-3Gal beta 1-4GlcNAc-R, termed, the alpha-galactosyl epitope. Whereas anti-Gal is abundant in humans, apes and Old World monkeys, it is absent from New World monkeys, prosimians and nonprimate mammals.
Bites from certain ticks, such as the lone star tick in the US, which can transfer this carbohydrate to the victim have been implicated in the development of this delayed allergic response which is triggered by the consumption of mammalian meat products. Despite myths to the contrary, an alpha-gal allergy does not require the afflicted to become a vegetarian, as poultry and fish do not trigger a reaction.
The allergy most often occurs in the central and southern United States, which corresponds to the distribution of the lone star tick. In the Southern United States, where the tick is most prevalent, allergy rates are 32% higher than elsewhere. However, as doctors are not required to report the number of patients suffering the alpha-gal allergies, the true number of affected individuals is unknown. While there is no known cure, symptoms of the allergy may recede over time. Some patients report observing symptoms for over 20 years.
Cri du chat syndrome, also known as chromosome 5p deletion syndrome, 5p− syndrome (pronounced "Five P Minus") or Lejeune’s syndrome, is a rare genetic disorder due to chromosome deletion on chromosome 5. Its name is a French term ("cat-cry" or "call of the cat") referring to the characteristic cat-like cry of affected children. It was first described by Jérôme Lejeune in 1963. The condition affects an estimated 1 in 50,000 live births across all ethnicities and is more common in females by a 4:3 ratio.
Five cat allergens have been described in medical literature. The two major allergens are Fel d 1 (a secretoglobin) and Fel d 4 (a lipocalin). The minor allergens include Fel d 2 (an albumin), Fel d 3 (a cystatin), and cat IgA.
Fel d 4 is the product of the cat major urinary protein gene. It is primarily expressed in the submandibular salivary gland and is deposited onto dander as the cat grooms itself. A study found that 63% of cat allergic people have antibodies against Fel d 4.
The additional chromosome 22 usually arises spontaneously. It may be hereditary and parents may be mosaic for the marker chromosome but show no phenotypic symptoms of the syndrome.
The chromosomal area included in the cat eye syndrome "critical region" is 22pter→q11.
The term "cat eye" syndrome was coined because of the particular appearance of the vertical colobomas in the eyes of some patients. However, over half of the CES patients in the literature do not present with this trait.
The cause of feline hyperesthesia syndrome is unknown. Some experts believe FHS to be a form of epilepsy, while others believe it is a behavioural disorder triggered by trauma. Noting that affected cats tend to be dominating rather than submissive, some research argues that FHS is conflict displacement in which the cat acts out thwarted territorial disputes on its own body.
Although any age, breed, or sex of cat can develop feline hyperesthesia syndrome, those most susceptible include the Siamese, Burmese, and Himalayan breeds.
During an episode cats show a number of typical signs, including skin rolling or twitching, compulsive self-grooming, self-directed pouncing, or aggressive behaviour such as biting or attacking the tail. There may also be pupil dilation, vocalisation and a general increase in activity.
The condition is marked by progressive deterioration, hepatosplenomegaly, dwarfism, and unique facial features. A progressive mental retardation occurs, with death frequently occurring by the age of 10 years.
Developmental delay is evident by the end of the first year, and patients usually stop developing between ages 2 and 4. This is followed by progressive mental decline and loss of physical skills. Language may be limited due to hearing loss and an enlarged tongue. In time, the clear layers of the cornea become clouded and retinas may begin to degenerate. Carpal tunnel syndrome (or similar compression of nerves elsewhere in the body) and restricted joint movement are common.
Affected children may be large at birth and appear normal, but may have inguinal (in the groin) or umbilical (where the umbilical cord passes through the abdomen) hernias. Growth in height may be initially faster than normal, then begins to slow before the end of the first year and often ends around age 3. Many children develop a short body trunk and a maximum stature less than 4 feet. Distinct facial features (including flat face, depressed nasal bridge, and bulging forehead) become more evident in the second year. By age 2, the ribs have widened and are oar-shaped. The liver, spleen, and heart are often enlarged. Children may experience noisy breathing and recurring upper respiratory-tract and ear infections. Feeding may be difficult for some children, and many experience periodic bowel problems. Children with Hurler syndrome often die before age 10 from obstructive airway disease, respiratory infections, or cardiac complications.
Parinaud's oculoglandular syndrome is the combination of granulomatous conjunctivitis in one eye, and swollen lymph nodes in front of the ear on the same side. Most cases are caused by cat-scratch disease, although it is an unusual feature of this condition. Occasionally it may be caused by other infections.
It should not be confused with the neurological syndrome caused by a lesion in the midbrain which is also known as Parinaud's syndrome. Both were named after the same person, Henri Parinaud.
Causes include:
- "Bartonella henselae"
- "Francisella tularensis"
- herpes simplex virus type 1
- "Paracoccidioides brasiliensis"
Trisomy 22 is a chromosomal disorder in which there are three copies of chromosome 22 rather than two. It is a frequent cause of spontaneous abortion during the first trimester of pregnancy. Progression to the second trimester and live birth are rare. This disorder is found in individuals with an extra copy or a variation of chromosome 22 in some or all cells of their body. There are many kinds of disorders associated with Trisomy 22:
Emanuel Syndrome is named after the genetic contributions made by researcher Dr. Beverly Emanuel. This condition is assigned to individuals born with an unbalanced 11/22 translocation. That is, a fragment of chromosome 11 is moved, or translocated, to chromosome 22.
22q11 Deletion Syndrome is a rare condition which occurs in approximately 1 in 4000 births. This condition is identified when a band in the q11.2 section of the arm of chromosome 22 is missing or deleted. This condition has several different names: 22q11.2 Deletion Syndrome, Velocardiofacial syndrome, DiGeorge Syndrome, Conotruncal Anomaly Face syndrome, Opitz G/BBB Syndrome, and Cayler Cardiofacial Syndrome. The effects of this disorder are different in each individual but similarities exist such as heart defects, immune system problems, a distinctive facial appearance, learning challenges, cleft palate, hearing loss, kidney problems, hypocalcemia, and sometimes psychiatric issues.
22q11 microduplication syndrome is the opposite of the 22q11 deletion syndrome: in this condition, a band of q.11.2 section of chromosome 22 is duplicated. Individuals carrying this deficiency are relatively “normal” as in they don’t possess any major birth defects or major medical illnesses. This microduplication is more common than the deletion; this might be due to the milder phenotype of the individuals.
Phelan-McDermid Syndrome / 22q13 Deletion Syndrome is a condition caused by the deletion of the tip of the q arm on chromosome 22. Most individuals with this disorder experience cognitive delays; low muscle tone; and sleeping, eating, and behavioural issues.
Chromosome Ring 22 is a rare disorder caused by the break and re-join of both ends of chromosome 22, forming a ring. The effects on the individual with this disorder are dependent on the amount of genetic information lost during the break/re-join. Major characteristics for this disorder are intellectual disability, muscle weakness and lack of coordination.
Cat Eye Syndrome / Schmid Fraccaro Syndrome is a condition caused by a partial trisomy or tetrasomy in chromosome 22. A small extra chromosome is found, made up of the top half of chromosome 22 and a portion of the q arm at the q11.2 break. This chromosome can be found three or four times. This syndrome is referred as “Cat Eye” due to the eye appearance of reported affected individuals who have coloboma of the iris; however, this feature is only seen in about half of the cases.
Mosaic trisomy 22 is a disorder in which an extra chromosome 22 is found only in some cells of the body. The severity of each case is determined by the number of cells with this extra copy. Some characteristics of individuals with this condition are cardiac abnormalities, growth retardation, mental delay, etc.
Complete Trisomy 22 is in contrast with Mosaic trisomy 22; this disorder is characterized by an extra copy of chromosome 22 which is found in each cell of the body of the affected individual. These cases are very rare, and most of the affected individuals die before birth or shortly after.
Hurler syndrome, also known as mucopolysaccharidosis type I (MPS I), Hurler's disease, also gargoylism, is a genetic disorder that results in the buildup of glycosaminoglycans (formerly known as mucopolysaccharides) due to a deficiency of alpha-L iduronidase, an enzyme responsible for the degradation of mucopolysaccharides in lysosomes. Without this enzyme, a buildup of heparan sulfate and dermatan sulfate occurs in the body. Symptoms appear during childhood and early death can occur due to organ damage.
MPS I is divided into three subtypes based on severity of symptoms. All three types result from an absence of, or insufficient levels of, the enzyme α-L-iduronidase. MPS I H or Hurler syndrome is the most severe of the MPS I subtypes. The other two types are MPS I S or Scheie syndrome and MPS I H-S or Hurler-Scheie syndrome.
Hurler syndrome is often classified as a lysosomal storage disease, and is clinically related to Hunter syndrome, which is X-linked, while Hurler syndrome is autosomal recessive.
It is named for Gertrud Hurler (1889–1965), a German pediatrician.
Progressive inflammatory neuropathy (PIN) is a disease that was identified in a report, released on January 31, 2008, by the Centers for Disease Control and Prevention. The first known outbreak of this neuropathy occurred in southeastern Minnesota in the United States. The disease was reported among pig slaughterhouse workers who appeared at various care facilities in the area reporting similar neurological symptoms. The disease was later identified at pork processing plants in Indiana and Nebraska as well. The condition is characterized by acute paralysis, pain, fatigue, numbness, and weakness, especially in extremities. It was initially believed that workers might have contracted the disease through inhaling aerosols from pig brains blown through a compressed-air hose and that this exposure to pig neural tissue induced an autoimmune response that might have produced their mysterious peripheral neuropathy. These suspicions were confirmed in reports and investigations conducted at the Mayo Clinic in Rochester, Minnesota.
Acatalasia (also called acatalasemia, or Takahara's disease) is an autosomal recessive peroxisomal disorder caused by low levels of the enzyme catalase.
The disorder is relatively benign, although it causes an increased incidence of periodontal infections, and can under rare circumstances lead to gangrene.
CNE is a necrotizing inflammation of the small bowel (especially the jejunum but also the ileum). Clinical results may vary from mild diarrhea to a life-threatening sequence of severe abdominal pain, vomiting, bloody stool, ulceration of the small intestine with leakage (perforation) into the peritoneal cavity and possible death within a single day due to peritonitis. Many patients exhibit meteorism. Treatment involves suppressing the toxin-producing organisms with antibiotics such as penicillin G or metronidazole. About half of seriously ill patients require surgery for perforation, persistent intestinal obstruction, or failure to respond to the antibiotics. An investigational toxoid vaccine has been used successfully in some developing countries but is not available outside of research.
Clostridial necrotizing enteritis (CNE), also called enteritis necroticans and pigbel, is an often fatal type of food poisoning caused by a β-toxin of "Clostridium perfringens", Type C. It occurs in some developing countries, but was also documented in Germany following World War II. The toxin is normally inactivated by certain proteolytic enzymes and by normal cooking, but when these protections are impeded, the disease emerges.
According to the DSM-IV-TR, which classifies Ganser syndrome as a dissociative disorder, it is "the giving of approximate answers to questions (e.g. '2 plus 2 equals 5' when not associated with dissociative amnesia or dissociative fugue)."
Diagnosing Ganser syndrome is very challenging, because some measure of dishonesty is involved and because it is very rare.
Usually when giving wrong answers, they are only slightly off, showing that the individual understood the question. For instance, when asked how many legs a horse has they might say, "five." Although subjects appear confused in their answers, in other respects they appear to understand their surroundings.
Arhinia, also called nasal agenesis, is the congenital partial or complete absence of the nose at birth. It is an extremely rare condition, with 47 reported cases in the history of modern medicine. It is generally classified as a craniofacial abnormality.
Cat skin disorders are among the most common health problems in cats.
Skin disorders in cats have many causes, and many of the common skin disorders that afflict people have a counterpart in cats. The condition of a cat's skin and coat can also be an important indicator of its general health. Skin disorders of cats vary from acute, self-limiting problems to chronic or long-lasting problems requiring life-time treatment. Cat skin disorders may be grouped into categories according to the causes.
The cause of arrhinia is not known. Akkuzu's study of the literature found that all cases had presented a normal antenatal history.
The original description by Sigbert Josef Maria Ganser in 1898 pointed out their hysterical twilight state. They may also describe hallucinations which are usually more than those in schizophrenia. They may also have disorders of sensation similar to those in conversion disorder. They may be inattentive or drowsy.
Some workers believe there is a genuine psychosis underlying this, others believe it is a dissociative disorder, while still others believe it is the result of malingering. Over the years, opinions have seemed to move from the last view more towards the first.
Ganser syndrome is currently classified under dissociative disorders, to which it moved in the DSM IV from the factitious disorders.