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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
Lucio Godina (March 8, 1908 – November 24, 1936) and Simplicio Godina (March 8, 1908 - December 8, 1936) were pygopagus conjoined twins from the island of Samar in the Philippines.
At the age of 21 they married Natividad and Victorina Matos, who were identical twins. They performed in various sideshow acts, including in an orchestra on Coney Island and in dance with their wives.
After Lucio died of rheumatic fever in New York City, doctors operated to separate him from Simplicio. Simplicio survived the operation, but died shortly thereafter due to spinal meningitis.
In Chinese alchemy, elixir poisoning refers to the toxic effects from elixirs of immortality that contained metals and minerals such as mercury and arsenic. The official "Twenty-Four Histories" record numerous Chinese emperors, nobles, and officials who ironically died from taking elixirs in order to prolong their lifespans. The first emperor to die from elixir poisoning was likely Qin Shi Huang (d. 210 BCE) and the last was Yongzheng (d. 1735). Despite common knowledge that immortality potions could be deadly, fangshi and Daoist alchemists continued the elixir-making practice for two millennia.
The etymology of English elixir derives from Medieval Latin "", from Arabic ("al-ʾiksīr"), probably from Ancient Greek ("xḗrion" "a desiccative powder for wounds"). "Elixir" originated in medieval European alchemy meaning "A preparation by the use of which it was sought to change metals into gold" (elixir stone or philosopher's stone) or "A supposed drug or essence with the property of indefinitely prolonging life" (elixir of life). The word was figuratively extended to mean "A sovereign remedy for disease. Hence adopted as a name for quack medicines" (e.g., Daffy's Elixir) and "The quintessence or soul of a thing; its kernel or secret principle". In modern usage, "elixir" is a pharmaceutical term for "A sweetened aromatic solution of alcohol and water, serving as a vehicle for medicine" ("Oxford English Dictionary", 2nd ed., 2009). Outside of Chinese cultural contexts, English "elixir poisoning" usually refers to accidental contamination, such as the 1937 Elixir sulfanilamide mass poisoning in the United States.
"Dān" 丹 "cinnabar; vermillion; elixir; alchemy" is the keyword for Chinese immortality elixirs. The red mineral cinnabar ("dānshā" 丹砂 lit. "cinnabar sand") was anciently used to produce the pigment vermilion ("zhūhóng" 朱紅) and the element mercury ("shuǐyín" 水銀 "watery silver" or "gǒng" 汞).
According to the "ABC Etymological Dictionary of Old Chinese", the etymology of Modern Standard Chinese "dān" from Old Chinese "*tān" (< *"tlan" ?) 丹 "red; vermillion; cinnabar", "gān" 矸 in "dāngān" 丹矸 from *"tân-kân" (< *"tlan-klan" ?) "cinnabar; vermillion ore", and "zhān" from *"tan" 旃 "a red flag" derive from Proto-Kam-Sui *"h-lan" "red" or Proto-Sino-Tibetan *"tja-n" or *"tya-n" "red". The *"t-" initial and *"t-" or *"k-" doublets indicate that Old Chinese borrowed this item. (Schuessler 2007: 204).
Although the word "dan" 丹 "cinnabar; red" frequently occurs in oracle script from the late Shang Dynasty (ca. 1600-1046 BCE) and bronzeware script and seal script from the Zhou Dynasty (1045-256 BCE), paleographers disagree about the graphic origins of the logograph 丹 and its ancient variants 𠁿 and 𠕑. Early scripts combine a 丶 dot or ⼀ stroke (depicting a piece of cinnabar) in the middle of a surrounding frame, which is said to represent:
- "jǐng" 井 "well" represents the mine from which the cinnabar is taken" ("Shuowen Jiezi")
- "the crucible of the Taoist alchemists" (Léon Wieger )
- "the contents of a square receptacle" (Bernhard Karlgren)
- "placed in a tray or palette to be used as red pigment" (Wang Hongyuan 王宏源)
- "mineral powder on a stretched filter-cloth" (Needham and Lu).
Many Chinese elixir names are compounds of "dan", such as "jīndān" 金丹 (with "gold") meaning "golden elixir; elixir of immortality; potable gold" and "xiāndān" 仙丹 (with "Daoist immortal") "elixir of immortality; panacea", and "shéndān" 神丹 (with "spirit; god") "divine elixir". "Bùsǐ zhī yào" 不死之藥 "drug of deathlessness" was another early name for the elixir of immortality. Chinese alchemists would "liàndān" 煉丹 (with "smelt; refine") "concoct pills of immortality" using a "dāndǐng" 丹鼎 (with "tripod cooking vessel; cauldron") "furnace for concocting pills of immortality". In addition, the ancient Chinese believed that other substances provided longevity and immortality, notably the "língzhī" 靈芝 ""Ganoderma" mushroom".
The transformation from chemistry-based "waidan" 外丹 "external elixir/alchemy" to physiology-based "neidan" 內丹 "internal elixir/alchemy" gave new analogous meanings to old terms. The human body metaphorically becomes a "ding" "cauldron" in which the adept forges the Three Treasures (essence, life-force, and spirit) within the "jindan" Golden Elixir within the "dāntián" 丹田 (with "field") "lower part of the abdomen".
In early China, alchemists and pharmacists were one in the same. Traditional Chinese Medicine also used less concentrated cinnabar and mercury preparations, and "dan" means "pill; medicine" in general, for example, "dānfāng" 丹方 semantically changed from "prescription for elixir of immortality" to "medical prescription". "Dan" was lexicalized into medical terms such as " dānjì" 丹劑 "pill preparation" and "dānyào" 丹藥 "pill medicine".
The Chinese names for immortality elixirs have parallels in other cultures and languages, for example, Indo-Iranian "soma" or "haoma", Sanskrit "amrita", and Greek "ambrosia".
Islamophobia is an intense fear or hatred of, or prejudice against, the Islamic religion or Muslims, especially when seen as a geopolitical force or the source of terrorism.
The term was first used in the early 20th century and it emerged as a neologism in the 1970s, then it became increasingly salient during the 1980s and 1990s, and it reached public policy prominence with the report by the Runnymede Trust's Commission on British Muslims and Islamophobia (CBMI) entitled "Islamophobia: A Challenge for Us All" (1997). The introduction of the term was justified by the report's assessment that "anti-Muslim prejudice has grown so considerably and so rapidly in recent years that a new item in the vocabulary is needed".
The causes and characteristics of Islamophobia are still debated. Some commentators have posited an increase in Islamophobia resulting from the September 11 attacks, some from multiple terror attacks in Europe and the United States, while others have associated it with the increased presence of Muslims in the United States and in the European Union. Some people also question the validity of the term. The academics S. Sayyid and Abdoolkarim Vakil maintain that Islamophobia is a response to the emergence of a distinct Muslim public identity globally, the presence of Muslims is in itself not an indicator of the degree of Islamophobia in a society. Sayyid and Vakil maintain that there are societies where virtually no Muslims live but many institutionalized forms of Islamophobia still exist in them.
Obesity in North Africa and the Middle East is a notable health issue. In 2005, the World Health Organization measured that 1.6 billion people were overweight and 400 million were obese. It estimates that by the year 2015, 2.3 billion people will be overweight and 700 million will be obese. The Middle East, including the Arabian Peninsula, Eastern Mediterranean, Turkey and Iran, and North Africa, are no exception to the worldwide increase in obesity. Subsequently, some call this trend the New World Syndrome. The lifestyle changes associated with the discovery of oil and the subsequent increase in wealth is one contributing factor.
Urbanization has occurred rapidly and has been accompanied by new technologies that promote sedentary lifestyles. Due to accessibility of private cars, television, and household appliances, the population as a whole is engaging in less physical activity. The rise in caloric and fat intake in a region where exercise is not a defining part of the culture has added to the overall increased percentages of overweight and obese populations. In addition, women are more likely to be overweight or obese due to cultural norms and perceptions of appropriate female behavior and occupations inside and outside of the home.
The Dorian Gray syndrome arises from the concurring and overlapping clinical concepts of the narcissistic personality, dysmorphophobia, and paraphilia. Psychodynamically, the man afflicted with DGS presents an interplay among his narcissistic tendencies ("timeless beauty"), his arrested development (inability to psychologically mature), and his use of "medical lifestyle" products and services — hair restoration, drugs (for impotence, weight-loss, and mood modification), laser dermatology, and plastic surgery — in order to remain young.
Although the DGS patient displays diagnostic features of said mental disorders, the syndrome describes a common, underlying psychodynamics of mental illness, which is characterized by narcissistic defences against time-dependent maturation, expressed by actively seeking the timeless beauty of youth. The article "Das Dorian Gray syndrom" (2005) reported that approximately 3.0 per cent of the population of Germany present features of the Dorian Gray syndrome.
Obesity in Mexico is a relatively recent phenomenon, having been widespread since the 1980s with the introduction of processed food into much of the Mexican food market. Prior to that, dietary issues were limited to under and malnutrition, which is still a problem in various parts of the country. Following trends already ongoing in other parts of the world, Mexicans have been foregoing traditional whole grains and vegetables in favor of a diet with more animal products, more fat, and more sugar much of which is a consequence of processed food. It has seen dietary energy intake and rates of overweight and obese people rise with seven out of ten at least overweight and a third clinically obese.
The diagnostic criteria for Dorian Gray syndrome are:
- Signs of dysmorphophobia
- Arrested development (inability to mature)
- Using at least two different medical-lifestyle products and services:
- Hair-growth restoration (e.g. finasteride)
- Antiadiposita to lose weight (e.g. orlistat)
- Anti-impotence drugs (e.g. sildenafil)
- Anti-depressant drugs (e.g. fluoxetine)
- Cosmetic dermatology (e.g. laser resurfacing)
- Cosmetic surgery (e.g. a face-lift, liposuction)
In one of the few reported cases, the subject presented with muscle weakness and fatigue, muscle twitching, excessive sweating and salivation, small joint pain, itching and weight loss. The subject also developed confusional episodes with spatial and temporal disorientation, visual and auditory hallucinations, complex behavior during sleep and progressive nocturnal insomnia associated with diurnal drowsiness. There was also severe constipation, urinary incontinence, and excessive lacrimation. When left alone, the subject would slowly lapse into a stuporous state with dreamlike episodes characterized by complex and quasi-purposeful gestures and movements (enacted dreams). Marked hyperhidrosis and excessive salivation were evident. Neurological examination disclosed diffuse muscle twitching and spontaneous and reflex myoclonus, slight muscle atrophy in the limbs, absence of tendon reflexes in the lower limbs and diffuse erythema especially on the trunk with scratching lesions of the skin.
Compulsive behaviours, stereotypies and reduplicative paramnesias can be part of the CNS spectrum.
Morvan's syndrome, or Morvan's fibrillary chorea (MFC), is a rare autoimmune disease named after the nineteenth century French physician Augustin Marie Morvan. "La chorée fibrillaire" was first coined by Morvan in 1890 when describing patients with multiple, irregular contractions of the long muscles, cramping, weakness, pruritus, hyperhidrosis, insomnia, and delirium.
It normally presents with a slow insidious onset over months to years.
Approximately 90% of cases spontaneously go into remission, while the other 10% of cases lead to death.
In 1890, Morvan described a patient with myokymia (muscle twitching) associated with muscle pain, excessive sweating, and disordered sleep.
This rare disorder is characterized by severe insomnia, amounting to no less than complete lack of sleep (agrypnia) for weeks or months in a row, and associated with autonomic alterations consisting of profuse perspiration with characteristic skin miliaria (miliaria rubra, sweat rash or prickly heat), tachycardia, increased body temperature, and hypertension. Patients display a remarkable hallucinatory behavior, and peculiar motor disturbances, which Morvan reported under the term “fibrillary chorea” but which are best described in modern terms as neuromyotonic discharges.
The association of the disease with thymoma, tumour, autoimmune diseases, and autoantibodies suggests an autoimmune or paraneoplastic aetiology. Besides an immune-mediated etiology, it is also believed to occur in gold, mercury, or manganese poisoning.
XXYY syndrome is a sex chromosome anomaly in which males have an extra X and Y chromosome. Human cells usually contain two sex chromosomes, one from the mother and one from the father. Usually, females have two X chromosomes (XX) and males have one X and one Y chromosome (XY). The appearance of at least one Y chromosome with a properly functioning SRY gene makes a male. Therefore, humans with XXYY are genotypically male. Males with XXYY syndrome have 48 chromosomes instead of the typical 46. This is why XXYY syndrome is sometimes written as 48,XXYY syndrome or 48,XXYY. It is estimated that XXYY affects one in every 18,000–40,000 male births.
Until the late 20th century, dietary issues in Mexico were solely a question of undernutrition or malnutrition, generally because of poverty and distribution issues. For this reason, obesity was associated with wealth and health, the latter especially in children. Despite changes in the Mexican diet and food distribution, malnutrition still remains problematic in various parts of the country.
Age: Children, Young Adult, Elderly
Sex: Both
Onset: Subacute
Clinical features NMDA Ab related patients in adult shows;
- Early features of higher cognitive dysfunction, confusion, behavioural changes, amnesia, dysphasia. Psychiatric: hallucinations, psychotic, agitation, depressive, anxiety, obsessive. Seizures: generalized, complex partial, simple partial.
- Late features: Spontaneous reduction in conscious level, Movement disorder: choreoathetoid (orofacial, upper limbs, lower limbs), parkinsonian, rigidity, myoclonus, oculogyric crises, opisthotonus, startle. Dysautonomia : tachy/brady-cardia, hyperhidrosis, persistent pyrexia, central hypoventilation, labile/high blood pressure, hypersalivation, pseudoobstruction, cardiac asystole.
NMDA Ab related patients in children and adolescent.
Commonly
- Behavioral or personality change, sometimes associated with
- Seizures and
- Sleep dysfunction;
- Severe speech deficits on admission
- Stereotyped movements,
- Autonomic instability
- Hypoventilation
Rarely
- Dyskinesias or dystonia;
Other Cases have similar presentation
- Disorientation,
- Hallucinations
- Confusion
- Memory loss
- Seizures: Partial temporal lobe. Pilomotor Status epilepticus
- Relative absence of cerebellar and brainstem sings
- Post partum psychosis
- Dyskinesias
The medical condition of being overweight or obesity is defined as "abnormal or excessive fat accumulation that may impair health". It is measured through the Body Mass Index (BMI), defined as a person's weight, in kilograms, divided by the square of the person's height, in meters. If an individual has a BMI of 25–29, he or she is overweight. Having a BMI of 30 or more means an individual is obese. The greater the BMI, the greater the risk of chronic diseases as a result of obesity. These diseases include cardiovascular diseases, diabetes, musculoskeletal disorders, cancer, and premature death.
About 70% of patients have prodromal symptoms consisting of headache, fever, nausea, vomiting, diarrhoea, or upper respiratory-tract symptoms.
Symptoms of MJD are memory deficits, spasticity, difficulty with speech and swallowing, weakness in arms and legs, clumsiness, frequent urination and involuntary eye movements. Symptoms can begin in early adolescence and they get worse over time. Eventually, MJD leads to paralysis; however, intellectual functions usually remain the same.
Lymphangiomatosis has been reported in every region of the abdomen, though the most reported sites involve the intestines and peritoneum; spleen, kidneys, and liver. Often there are no symptoms until late in the progression of the disease. When they do occur, symptoms include abdominal pain and/or distension; nausea, vomiting, diarrhea; decreased appetite and malnourishment. When the disease affects the kidneys the symptoms include flank pain, abdominal distension, blood in the urine, and, possibly, elevated blood pressure, which may result in it being confused with other cystic renal disease. When lymphangiomatosis occurs in the liver and/or spleen it may be confused with polycystic liver disease. Symptoms may include abdominal fullness and distension; anemia, disseminated intravascular coagulopathy (DIC), fluid accumulation in the abdomen(ascites), decreased appetite, weight loss, fatigue; late findings include liver failure.
Symptoms of lymphangiomatosis in the skeletal system are the same as those of Gorham’s disease. Frequently asymptomatic, skeletal lymphangiomatosis may be discovered incidentally or when a pathological fracture occurs. Patients may experience pain of varying severity in areas around the effected bone. When the disease occurs in the bones of the spine, neurological symptoms such as numbness and tingling may occur due to spinal nerve compression. Progression of disease in the spine may lead to paralysis. Lymphangiomatosis in conjunction with Chiari I malformation also has been reported.
Major symptoms of PWS include:
Birthmarks: Effected PWS patients suffer from large, flat, pink staining on the skin. This staining is a result of the capillary malformations that have the tendency to increase the blood flow near the surface of the skin causing the staining. Because of the staining color they are sometimes referred to as “port-wine stains”. “Port-wine stain” or discoloration of the skin due to vascular malformation is also referred as Nevus flammeus.
Hypertrophy: Hypertrophy refers to excessive growth of the bone and soft tissue. In PWS patients a limb is overgrown and hypertrophy is usually seen in the affected limb.
Multiple arteriovenous fistulas: PWS patients also suffer from multiple AVFs that occur in conjunction with capillary malformations. AVFs occur because of abnormal connections between arteries and veins. Normally, blood flows from arteries to capillaries then to veins. But for AFV patients, because of the abnormal artery and vein connections, blood flows directly from arteries into the veins completely bypassing the capillaries. These irregular connections affect the blood circulation and may lead to life-threatening complications such as abnormal bleeding and heart failure. AVFs can be identified by: large, purplish bulging veins, swelling in limbs, decreased in blood pressure, fatigue and heart failure.
Capillary arteriovenous malformations: Vascular system disorder is the cause of the capillary malformations. Here, the capillaries are enlarged and increase the blood flow towards the surface of the skin. Because of the capillary malformations, the skin has multiple small, round, pink or even red dots. For most of the affected individuals, these malformations occur on the face, arms and or legs. The spots may be visible right from birth itself or they may develop during childhood years. If capillary malformations occur by themselves, it is not a huge threat to life. But when these occur in conjunction with AVFs then it is a clear indicator of PWS and may be serious depending on the severity of the malformations.
The Human Phenotype Ontology (HPO) reports of additional symptoms in PWS patients. HPO is an active database that collects and researches on the relationships between phenotypic abnormalities and biochemical networks. This is an useful database as it has information and data on some of the rarest diseases such as PWS. According to HPO, the symptoms which are reported very frequently in PWS patients include: abnormal bleeding, hypertrophy of the lower limb, hypertrophy of the upper limb, nevus flammeus or staining of the skin, peripheral arteriovenous fistula, telangiectasia of the skin. Frequent to occasional symptoms include: varicose veins, congestive heart failure, glaucoma and headache.
Abnormal bleeding: some skin lesions are prone to bleed easily.
Peripheral arteriovenous fistula: abnormal communication between artery and vein that is a direct result of the abnormal connection or wiring between the artery and vein.
Telangiectasia of the skin: Telangiectasia is a condition where tiny blood vessels become widened and form threadlike red lines and or patterns on the skin. Because of their appearance and formation of web-like patterns they are also known as spider veins. These patterns are referred as telangiectases.
Varicose veins: Enlarged, swollen and twisted veins.
Congestive heart failure: This is a condition in which the heart’s ability to meet the requirements of the body is diminished. The cardiac output is decreased and the amount of blood pumped is not adequate enough to keep the circulation from the body and lungs going.
Glaucoma: Glaucoma is a combination of diseases that cause damage to the optic nerve and may result in vision loss and blindness.
Headache: pain in the head.
Obesity is defined as the excessive accumulation of fat and is predominately caused when there is an energy imbalance between calorie consumption and calorie expenditure. Childhood obesity is becoming an increasing concern worldwide and Australia alone, recognizes that 1 in 4 children are either overweight or obese.
For Australians aged between 4 and 17 years, obesity is a very concerning condition as once gained it is favourably harder to be liberated from. Short-term effects on children can mean a decrease in their psychological well-being (stigmatisation and poor self-esteem) as well as physical deteriorations such as sleep apnea, breathlessness and cardiovascular disease. With an increase risk of adult obesity being associated with childhood obesity there are numerous long-term effects that can ultimately hinder the life expectancy of individuals including the development of serious diseases.
In order to combat the worldwide epidemic of childhood obesity it is imperative that the issue is addressed in its early stages. The main preventative measures to be implemented include increasing physical exercise, dietary knowledge and decreasing sedentary behaviours.
In the human manifestation of the disease, "E. granulosus", "E. multilocularis", "E. oligarthrus" and "E. vogeli" are localized in the liver (in 75% of cases), the lungs (in 5–15% of cases) and other organs in the body such as the spleen, brain, heart, and kidneys (in 10–20% of cases). In the patients who are infected with "E. granulosus" and therefore have cystic echinococcosis, the disease develops as a slow-growing mass in the body. These slow-growing masses, often called cysts, are also found in patients that are infected with alveolar and polycystic echinococcosis. The cysts found in those with cystic echinococcosis are usually filled with a clear fluid called hydatid fluid, are spherical, and typically consist of one compartment and are usually only found in one area of the body. While the cysts found in those with alveolar and polycystic echinococcosis are similar to those found in those with cystic echinococcosis, the alveolar and polycystic echinococcosis cysts usually have multiple compartments and have infiltrative as opposed to expansive growth.
Depending on the location of the cyst in the body, the patient could be asymptomatic even though the cysts have grown to be very large, or be symptomatic even if the cysts are absolutely tiny. If the patient is symptomatic, the symptoms will depend largely on where the cysts are located. For instance, if the patient has cysts in the lungs and is symptomatic, they will have a cough, shortness of breath and/or pain in the chest. On the other hand, if the patient has cysts in the liver and is symptomatic, they will suffer from abdominal pain, abnormal abdominal tenderness, hepatomegaly with an abdominal mass, jaundice, fever and/or anaphylactic reaction. In addition, if the cysts were to rupture while in the body, whether during surgical extraction of the cysts or by trauma to the body, the patient would most likely go into anaphylactic shock and suffer from high fever, pruritus (itching), edema (swelling) of the lips and eyelids, dyspnea, stridor and rhinorrhea.
Unlike intermediate hosts, definitive hosts are usually not hurt very much by the infection. Sometimes, a lack of certain vitamins and minerals can be caused in the host by the very high demand of the parasite.
The incubation period for all species of "Echinococcus" can be months to years, or even decades. It largely depends on the location of the cyst in the body and how fast the cyst is growing.
Diseases of poverty is a term sometimes used to collectively describe diseases, disabilities, and health conditions that are more prevalent among the poor than among wealthier people. In many cases poverty is considered the leading risk factor or determinant for such diseases, and in some cases the diseases themselves are identified as barriers to economic development that would end poverty. Diseases of poverty are often co-morbid and ubiquitous with malnutrition.
These diseases triggered in part by poverty are in contrast to so-called "diseases of affluence", which are diseases thought to be a result of increasing wealth in a society.
Machado–Joseph disease (MJD), also known as Machado–Joseph Azorean disease, Machado's disease, Joseph's disease or spinocerebellar ataxia type 3 (SCA3), is a rare autosomal dominantly inherited neurodegenerative disease that causes progressive cerebellar ataxia, which results in a lack of muscle control and coordination of the upper and lower extremities. The symptoms are caused by a genetic mutation that results in an expansion of abnormal "CAG" trinucleotide repeats in the ATXN3 gene that results in an abnormal form of the protein ataxin which causes degeneration of cells in the hindbrain. Some symptoms, such as clumsiness and rigidity, make MJD commonly mistaken for drunkenness or Parkinson's disease.
Machado–Joseph disease is a type of spinocerebellar ataxia and is the most common cause of autosomal-dominant ataxia. MJD causes ophthalmoplegia and mixed sensory and cerebellar ataxia.
Stunted growth, also known as stunting and nutritional stunting, is a reduced growth rate in human development. It is a primary manifestation of malnutrition (or more precisely undernutrition) and recurrent infections, such as diarrhea and helminthiasis, in early childhood and even before birth, due to malnutrition during fetal development brought on by a malnourished mother. The definition of stunting according to the World Health Organisation (WHO) is for the "height for age" value to be less than two standard deviations of the WHO Child Growth Standards median.
As of 2012 an estimated 162 million children under 5 years of age, or 25%, were stunted in 2012. More than 90% of the world's stunted children live in Africa and Asia, where respectively 36% and 56% of children are affected. Once established, stunting and its effects typically become permanent. Stunted children may never regain the height lost as a result of stunting, and most children will never gain the corresponding body weight. Living in an environment where many people defecate in the open due to lack of sanitation, is an important cause of stunted growth in children, for example in India.
Parkes Weber Syndrome (PWS) is a congenital disorder of the vascular system. It is an extremely rare disease with only 0.3% of the world's population known to have this syndrome. In 1907, a British dermatologist, Frederick Parkes Weber first described this syndrome and hence this disease was named Parkes Weber Syndrome. In the body, vascular system consists of arteries, veins and capillaries. When abnormalities such as: vascular malformation, capillary arteriovenous malformations (AVMs), arteriovenous fistulas (AVFs) and overgrowth of a limb occur together in combination and disturb the complex network of blood vessels of the vascular system -it is known as PWS. The capillary malformations and AVFs are known to be present from the birth. In some cases PWS is a genetic condition where RASA1 gene is mutated and displays autosomal dominant inheritance pattern. If PWS is genetic then most patients show multiple capillary malformations. Patients that do not have multiple capillary malformations most likely did not inherit PWS and do not have RASA1 mutations. In such cases the cause of PWS is often unknown and is sporadic as most cases often are.
Often times PWS is mixed up with Klippel–Trénaunay syndrome (KTS). These two diseases are similar but they are not quite the same. PWS occurs because of vascular malformation that may or may not be because of genetic mutations, where as Klippel-Trenaunay syndrome is a condition in which blood vessels and or lymph vessels do not form properly. PWS and KTS almost have the same symptoms except PWS patients are seen with both AVMs and AVFs occur together along with lymph hypertrophy.