Hello I am from Pakistan. The same is true for their siblings, and later in life siblings are overrepresented in professional leadership roles, especially in politics. One of the more common types of the disease is acute intermittent porphyria (AIP), which famously afflicted the unfortunate King George III of Britain--the "mad king" of Alan Bennetts play. [2], Most types of porphyria are inherited from one or both of a person's parents and are due to a mutation in one of the genes that make heme. PCT is one of the most common types of porphyria. At Christmas, 1819, George suffered another violent attack of porphyria, after talking incessantly for fifty-eight hours he sank into a coma. [16] Blood transfusion is occasionally used to suppress innate heme production. Each step is catalyzed by a separate enzyme. Queen Victoria was the last monarch from the House of Hanover, a family famous for its inbreeding and subsequent genetic abnormalities. [2], The precise prevalence of porphyria is unclear, but it is estimated to affect between 1 and 100 per 50,000 people. He experienced regular vomiting and temporary paralysis in addition to widespread nerve pain. The exact prevalence of porphyria is unknown, but it likely ranges from 1 in 500 to 1 in 50,000 people worldwide. However, levels of some porphyrins may be normal in people with porphyria who do not have current symptoms. [citation needed], The theory has been rejected by a few folklorists and researchers as not accurately describing the characteristics of the original werewolf and vampire legends or the disease, and as potentially stigmatizing people with porphyria.[56][57]. This is in case they develop severe symptoms, or in case of accidents where there is a potential for drug exposure, and as a result they are unable to explain their condition to healthcare professionals. [37], Heme arginate (NormoSang) is used during crises but also in preventive treatment to avoid crises, one treatment every 10 days. [28], Deficiency in the enzymes of the porphyrin pathway leads to insufficient production of heme. Porphyria has been suggested as an explanation for the origin of vampire and werewolf legends, based upon certain perceived similarities between the condition and the folklore. Hemolytic anemia. Porphyria cutanea tarda affects people around the world and isn't limited to a particular region or country. These are associated with accumulation of porphyrins in erythrocytes and are rare. Porphyria cutanea tarda is the most common type of porphyria worldwide. [1] Symptoms of an attack include abdominal pain, chest pain, vomiting, confusion, constipation, fever, high blood pressure, and high heart rate. These symptoms occur in 12 months or less after exposure. Russell Brand. Meanwhile, a 2005 analysis of hair samples found the even if King George did suffer from porphyria, his symptoms were likely exacerbated by arsenic poisoning from his doctor-prescribed medicines. "It all began with a horrible pain in my right leg from the muscle downward," she remembered. This is especially true if there is red or brown urine or a sudden sensitivity to sunlight. George III's recurring bouts of illness resulted in withdrawal from society to recuperate out of the public eye at Kew Palace, near Richmond. He ruled Walachia, Romania, off and on from 1456-1462.. He experienced regular vomiting and temporary paralysis in addition to widespread nerve pain. The most notorious environmental episode happened in Turkey in the 1950s, when 4,000 people developed a form of porphyria after eating wheat seeds that had been sprayed with a fungicide, hexachlorobenzene. Nausea can be severe; it may respond to phenothiazine drugs but is sometimes intractable. Porphyrias, a group of eight known blood disorders, affect the body's molecular machinery for making heme, which is a component of the oxygen-transporting protein, hemoglobin. 2023 A&E Television Networks, LLC. The principal problem in these deficiencies is the accumulation of porphyrins, the heme precursors, which are toxic to tissue in high concentrations. 14. Although the prevalence of this disease is considered rare, there is a direct connection to the diagnosis of Porphyria Cutanea Tarda and a persons exposure to Agent Orange. [33], Repeat testing during an attack and subsequent attacks may be necessary in order to detect a porphyria, as levels may be normal or near-normal between attacks. [49], Rates of all types of porphyria taken together have been estimated to be approximately one in 25,000 in the United States. www scuola test verifica sulle regioni del nord italia. This effectively switches off the assembly line, bringing an end to the production of toxic porphyrin intermediates. Androgens and fertility hormones have also triggered attacks. Veterans who have been exposed to Agent Orange have been diagnosed with Porphyria may be diagnosed with up to a 10% disability because of this condition. The addition of hematin or heme arginate has been used during status epilepticus. What famous people have Porphyria? [16], If all the porphyrin studies are negative, one must consider pseudoporphyria. She later developed a pain in her chest, before going into convulsions. Severe photosensitivity with erythema, swelling and blistering. In AIP the most notable symptoms are neurological attacks, such as trances, seizures and hallucinations, which often persist over days or even weeks. Basic biochemical tests may assist in identifying liver disease, hepatocellular carcinoma, and other organ problems. . This poem published in the year of 1836. [51], Porphyrias have been detected in all races and in multiple ethnic groups on every continent. Subtypes of porphyrias depend on which enzyme is deficient. The products of the earlier steps, porphyrin intermediates, may build up to toxic levels. These include hemochromatosis and hepatitis C. Treatment of iron overload may be required. He was subjected to the appalling medical treatment of the day, bound and gagged and strapped into a chair for hours. Chloroquine may be used to increase porphyrin secretion in some EPs. Think about the schedule. Even in his insanity he never forgot his exalted status, although he ceased to shave and now had a long white beard, he always wore a purple dressing gown with his Garter star pinned to his chest. The princess was pregnant with a child which was expected to be the heir in the next generation to the British throne. This is due usually to an inherited deficiency in an enzyme called ferrochelatase or heme synthase, the final enzyme in the heme synthetic pathway. avg. [1][2][4] The attacks usually last for days to weeks. Jaundice, anemia, enlarged liver and spleen, often neonatal. Nina Simone. Other typical risk factors for liver cancer need not be present. It is the only commercially available treatment in the United States. Caryn Elaine Johnson, professionally known as Whoopi Goldberg, is a famous author, comedian, actress, and talk show host. This is not the main problem in the porphyrias; most heme synthesis enzymeseven dysfunctional enzymeshave enough residual activity to assist in heme biosynthesis. Vampires' famed sun-aversion is likely connected to the symptoms of cutaneous porphyrias such as PCT. These eight celebrities and famous historical figures have all lived with bipolar disorder. Burning. Porphyria cutanea tarda is the name of a song by the rock band AFI on their fourth album Black Sails in the Sunset, released on May 18, 1999. Nikola Tesla was often mentally compromised, and Wolfgang Amadeus Mozart suffered from mood swings. Exactly which porphyrins accumulate depends on the site of the jam, and it is this that gives porphyria such a wide range of symptoms. The urine screening test has been known to fail in the initial stages of a severe, life-threatening attack of acute intermittent porphyria. 7. All the versions of porphyria have one thing in common: they each result from faults in the bodys heme-building machinery. Drawing blood (phlebotomy) can also help, because this quickly removes porphyrin intermediates from the circulation. He was reported to have had lucid moments when he agonized pitifully about what he had become. Throughout the 20th century Frida Kahlo was renowned for self portraits and masterpieces. In 2015, I decided to go on a high protein low carb diet to get healthy. It could be a decision that makes life a whole lot easier. Muhammad Ali (1942 - 2016) American Boxer and civil rights campaigner. Plants make chlorophyll via a pathway very similar to that for heme production in animals. Frida Kahlo. [citation needed], The underlying mechanism was first described by Felix Hoppe-Seyler in 1871,[52] and acute porphyrias were described by the Dutch physician Barend Stokvis in 1889.[53][54]. Denver, Joness. The chronicler Plutarch describes Caesar as being afflicted with distemper in the head and notes that he once fell into a fit in which his body trembled, and some of the papers he held dropped out of his hands. Suetonius, meanwhile, says Caesar was struck by a similar sickness on two different occasions during his military campaigns. [1] Rates are different around the world. The exact prevalence of porphyria is unknown, but it likely ranges from 1 in 500 to 1 in 50,000 people worldwide. [citation needed], It is recommended that patients with a history of acute porphyria, and even genetic carriers, wear an alert bracelet or other identification at all times. The blockage of the assembly line also means that the body cannot make enough heme to produce normal red blood cells. Treatment options are generally to reduce symptoms. In CEP, the genetic fault affects the stem cells in the bone marrow, which divide to produce new red blood cells. In fact, porphyria is sometimes referred to as the "vampyre . [citation needed] Porphyria cutanea tarda is the disease that both Dabney Pratt and Brother Rush suffer from in Virginia Hamilton 's children's novel Sweet Whispers, Brother Rush. Acute Intermittent Porphyria has been reported in the range of 1.5-10 per 100,000 but most carriers of a mutant allele never develop symptoms. Porphyrias are a group of eight NMDs causing intermittent neuro-visceral and cutaneous attacks, concomitant or isolated. [31] In nearly all cases of acute porphyria syndromes, urinary PBG is markedly elevated except for the very rare ALA dehydratase deficiency or in patients with symptoms due to hereditary tyrosinemia type I. The non-acute porphyrias are X-linked dominant protoporphyria (XLDPP), congenital erythropoietic porphyria (CEP), porphyria cutanea tarda (PCT), and erythropoietic protoporphyria (EPP). Among other descendants of George III theorized by the authors of, The condition is the name of the title character in the gothic poem ", The condition is heavily implied to be the cause of the symptoms suffered by the narrator in the gothic short story ", This page was last edited on 19 February 2023, at 22:16. List of Famous People with Paraplegia, loosely ranked by fame and popularity. However, they . Following a variable period of, Vesiculo-erosive skin disease. People with cutaneous porphyria develop blisters, itching, and swelling of their skin when it is exposed to sunlight. Her daughter, Princess Feodora of Saxe-Meiningen (born 19 May 1879) is also claimed to have suffered from the disease. In others, it is only partial, permitting limited heme synthesis. This page is currently unavailable. Most kinds of sunscreen are not effective, but SPF-rated long-sleeve shirts, hats, bandanas, and gloves can help. Search within . The authors demonstrated a single point mutation in the, Last edited on 19 February 2023, at 22:16, Learn how and when to remove this template message, aminolevulinic acid dehydratase deficiency porphyria, Aminolevulinate dehydratase deficiency porphyria, https://porphyrianews.com/health-insights/hormonal-contraceptives-and-porphyria/, Proceedings of the Royal Society of Medicine, American Association for the Advancement of Science, "Lead poisoning mimicking acute porphyria! ", "Porphyria and vampirism: another myth in the making", "The "insanity" of King George 3d: a classic case of porphyria", "Porphyria in the royal houses of Stuart, Hanover, and Prussia. The exception to this may be latent post-puberty genetic carriers of hereditary coproporphyria. When these return to the resting energy level or ground state, energy is released. Historians long hypothesized that his madness may have been due to an undiagnosed family history of porphyria. There are high incidence reports of AIP in areas of India and Scandinavia. Samples must be protected from light and either refrigerated or preserved. [2][4] If the skin is affected, blisters or itching may occur with sunlight exposure. In some cases, paraplegia can be improved by extensive physical therapy and stem cell treatments. See "New Light on Medicine," by Nick Lane; Scientific American, January 2003.). Fewer than 300 cases have been reported in the medical literature of Congenital Eyrthropoeitic Porphyria. Here's a speculative look at the mental health of 11 of history's big thinkers. X-linked dominant protoporphyria is a rare form of erythropoietic protoporphyria caused by a gain-of-function mutation in ALAS2 characterized by severe photosensitivity. I had severe abdominal pain and nonstop vomiting but was told to just go home and essentially Information on diseasemaps.org is reported by users and is not medical advice. Bipolar disorder is also difficult for a manager to handle. [1] The types that affect the nervous system are also known as acute porphyria, as symptoms are rapid in onset and short in duration. Longer-acting medications can be . The porphyrias are a group of disorders connected with the production of haem, which is used to make haemoglobin in red blood cells. George Clooney, actor and star of movies like "Up in the Air" and the "Ocean's Eleven" series was diagnosed with Bell's palsy when he was a 14. These heme-like substances theoretically inhibit ALA synthase and hence the accumulation of toxic precursors. Stokvis described the clinical syndrome as "porphyria," and from then on more and more forms of the syndrome were discovered. . In the poem, the speaker describes being visited by his . Depression is part and parcel of the Acute Porphyrias. From Michelangelos arthritis to Abraham Lincolns depression, learn the stories behind seven historical figures who may have suffered from undiagnosed physical ailments. Anemia Dreamstime is the world`s largest stock photography community. A portrait of Samuel Johnson by Joshua Reynolds. Population Estimate: Fewer than 1,000 people in the U.S. have this disease. As such he also descended from King George III. My thesis aimed to study dynamic agrivoltaic systems, in my case in arboriculture. Samples should be taken during an acute attack; otherwise a false negative result may occur. The ailment likely stemmed from an incident during her childhood on a Maryland plantation, when an overseer threw a lead weight at another slave and instead hit Tubman on the head, fracturing her skull. It can be very difficult to deal with and one needs to look at ways to manage the individual person. [2] Porphyria cutanea tarda is believed to be the most common type. 3 to 4 mg/kg of Panhematin given once daily for four days early in an attack produces a highly beneficial effect in most patients. Fewer than 300 cases have been reported in the medical literature of Congenital Eyrthropoeitic Porphyria. The woman responsible for leading hundreds of slaves to freedom on the Underground Railroad may have also suffered from a chronic sleep disorder. [47] A bone marrow transplant has also been successful in curing CEP in a few cases, although long-term results are not yet available. In 1816, the author of such beloved novels as Emma and Pride and Prejudice came down with a host of mysterious ailments including exhaustion, back pain, skin discoloration, bilious attacks and fever. Maria I of Portugal in a c. 1790s portrait attributed to Giuseppe Troni or Thomas Hickey. Support Porphyria Research. She chaired the British and Irish Porphyria Network from 2008 to 2014. 15. It is actually believed that the legend of the vampire was created around this specific disorder. famous people with porphyria Author: Published on: toyota land cruiser hzj 73 technische daten June 1, 2022 Published in: nymphensittich hat gleichgewichtsstrungen Treatment for acute porphyria was unavailable until the 20th century. Vlad Dracul was born in Transylvania, Romania. Persons with bipolar disorder, previously referred to as manic depressive illness, are more likely than others to possess superior leadership skills at an early age. Which is Clapeyron and Clausius equation? A number of psychologists claim that Smith exhibited many of the symptoms of histrionic personality disorder. Just one year later, she was dead at the age of 41. Instead, exposure to sunligh t can cause people with these types of porphyria to have skin symptoms such as: 2. When there is too much of this substance in the body, then there can be some significant health problems that follow. Porphyrins are photoactive molecules, and exposure to light results in promotion of electrons to higher energy levels. All other porphyrias are either skin- or nerve-predominant. Sometimes the spleen must be removed in an attempt to treat the hemolytic anemia. In some cases the jam is total, preventing any heme synthesis at all. Thats why having statistics like these on-hand can be so useful. The King existed at Windsor Castle for the next ten years, neglected and unkempt, a blind and deaf octogenarian. I discovered sensitivity to fluoroquinolones after being incorrectly prescribed Cirpro for a basic UTI in 2014 and felt strange ever since. [citation needed], Given the many presentations and the relatively low occurrence of porphyria, patients may initially be suspected to have other, unrelated conditions. "New Light on Medicine," by Nick Lane; Scientific American, January 2003. They are not curative drugs but can shorten attacks and reduce the intensity of an attack. Martin A Crook.2006. Individuals with congenital erythropoietic porphyria do not crave blood. [citation needed], The rarest is congenital erythropoietic porphyria (CEP), otherwise known as Gunther's disease. George III's 2 greats granddaughter, Princess Victoria, Queen Victoria's eldest daughter, and her daughter Princess Charlotte of Prussia, (born 24 July 1860), was further suspected of suffering from the condition. Daytime hours are generally best. Porphyria cutanea tarda (PCT) is the most common type of porphyria and can be acquired, which means that other factors than the inherited gene can cause this, says the NIH. The paper diagnosed Steve Jobs with Obsessive Compulsive Personality Disorder (301.4) and Narcissistic Personality Disorder (301.81) with a stand-by diagnosis of Borderline Personality Disorder. All porphyrias are generated by enzymes deficit of heme metabolism, leading to an aggregation of porphyrin or its precursors [delta-aminolevulinic acid (ALA) and porphibilinogne (PBG)]. [41], Seizures often accompany this disease. Alcohol consumption and cigarette smoking (nicotine use) should be limited. However, this can worsen cases of low blood sodium levels (hyponatraemia) and should be done with extreme caution as it can prove fatal. In August 1968, Prince William was examined by Dr. Henry Bellringer, at the request of the his mother, Princess Alice of Gloucester. Hippocrates is often cited as the first to recognize porphyria (which was then referred to as blood/liver disease) but the causal role of porphyrin pigments was only established in 1871 by the great German pioneer of biochemistry Felix Hoppe-Seyer. 4 However, more recent studies have suggested that acute crises are rarely fatal. The non-acute porphyrias are X-linked dominant protoporphyria (XLDPP), congenital erythropoietic porphyria (CEP), porphyria cutanea tarda (PCT), and erythropoietic protoporphyria (EPP). All Rights Reserved. AIP is caused by low levels of porphobilinogen deaminase (PBGD), an enzyme also often called hydroxymethylbilane synthase. Some famous people who very likely had porphyria include Vincent van Gogh, King George III, and Edgar Allan Poe and JFK. Acute attacks happen in all acute porphyrias. Pharmaceutical-grade beta carotene may be used in its treatment. This is a rare disorder that mainly affects the skin. Some types of porphyria have both nervous system symptoms and skin symptoms. . Saad postulates that celebrities like Tom Cruise, Justin Bieber, the Kardashians, et al, were narcissists before they became famous. The Greeks borrowed the term from the Phoenicians, who extracted a purple pigment from purpura mollusks to dye the garments of their royal family. Stay up and fight." Phyllis Diller (November. 1970-2011 Drs. Porphyrias are classified in two ways, by symptoms and by pathophysiology. In 1985, biochemist David Dolphin's paper for the American Association for the Advancement of Science, "Porphyria, Vampires, and Werewolves: The Aetiology of European Metamorphosis Legends," gained widespread media coverage, popularizing the idea. Pricing level. Find out which celebrities, athletes or public figures have Porphyria. It has been suggested that King George III of Great Britain suffered from the haem biosynthetic disorder, variegate porphyria. Gaten Matarazzo The links between porphyrias and mental illness have been noted for decades. Acute intermittent porphyria (AIP) is one of the liver (hepatic) porphyrias. Mary's symptoms included gastric ulcers, rheumatism and hysteria. 55 Fruit Street. Occasionally, there may be short-lived psychiatric symptoms such as anxiety, confusion, hallucinations, and, very rarely, overt psychosis. Heme infusions help in the treatment of porphyria patients in two ways. Hemolytic anemia usually develops. Mahatma Gandhi (1869 - 1948) Leader of Indian independence movement. 6 Acute porphyria, whether symptomatic or not, carries an increased risk of hypertension, hepatocellular carcinoma, and chronic renal failure. "Porphyria's Lover" is a poem by the British poet Robert Browning, first published in 1836. [4], The most severe episodes may involve neurological complications: typically motor neuropathy (severe dysfunction of the peripheral nerves that innervate muscle), which leads to muscle weakness and potentially to quadriplegia (paralysis of all four limbs) and central nervous system symptoms such as seizures and coma. Nearly all the patients who died had advanced porphyria and required mechanical ventilation. Porphyria is a group of inherited metabolic disorders, caused of bydifferent faulty genes. [2], Hormonal fluctuations that contribute to cyclical attacks in women have been treated with oral contraceptives and luteinizing hormones to shut down menstrual cycles. Exposure to sunlight is the greatest issue. Ethnicity. Estrogen use by women. [16] All samples to detect porphyrins must be handled properly. For most of his life, the sixteenth president was plagued by a feeling of gloom and despair that he dubbed the hypo. He often spoke of suicide as a young man, and once told an acquaintance that he never carried a pocketknife out of fear of hurting himself. Second, the extra heme suppresses further heme synthesis via a negative feedback loop. [36] In the United States, Lundbeck manufactures and supplies Panhematin for infusion. Along with" My Last Duchess ," it has become one of Browning's most famous dramatic monologuesdue in no small part to its shockingly dark ending. [2] Complications may include paralysis, low blood sodium levels, and seizures. So do many of our most famous leaders, notably Theodore Roosevelt, Winston Churchill, and General Patton. It affects about 1 in 25,000 people in the UK. People who have inherited porphyria from one or both parents have deficiencies in certain enzymes that help with normal hemoglobin functions. Beethoven was periodically depressed; Tolstoy was a strange, otherworldly, idiosyncratic aristocrat; and lets not forget the periodically outright psychotic, super-genius Isaac Newton. George III. In 2016, at age 24, I was diagnosed with Acute Intermittent Porphyria (AIP). Hereditary coproporphyria, which is characterized by a deficiency in coproporphyrinogen oxidase, coded for by the CPOX gene, may also present with both acute neurologic attacks and cutaneous lesions. Alvin Ailey. The king Georges III, the lady with the tattoos, Sean Albright - American racecar driver has Variegate Porphyria (VP). Porphyria had tormented Mary Queen of Scots, who passed it on to her son, King James I of England. Previous 3 answers Next The king Georges III, the lady with the tattoos Posted Mar 30, 2019 by Marie 2500 The King Georges the third Posted May 10, 2020 by Deemay 100 Sean Albright - American racecar driver has Variegate Porphyria (VP) She is a Professor of Medical Education in the University of Manchester and former Hospital Dean in Salford Royal. He made various sounds with his mouth, his friend and biographer James Boswell wrote, sometimes giving a half whistle, sometimes making his tongue play backwards, from the roof of his mouth, as if clucking like a hen. Johnson was also known to exhibit compulsive behaviors such as counting his steps and touching every light post he passed on the street. 891,100 views made by Traveler. - Quora The novel deals heavily with themes of gender and sexuality. As a result of feedback, the decreased production of heme leads to increased production of precursors, PBG being one of the first substances in the porphyrin synthesis pathway. Although some types can be cured, most people who receive a diagnosis of this disorder will be managing it for the rest of their lives. For the rarest form of the condition (ADP), only six cases have ever been recorded. The abnormal porphyrins: deposit in skin, where they cause a terrible itchy rash on exposure to sunlight Vector illustration for medical. Queen Victoria's III's 2 greats grandson Prince William of Gloucester, (eldest son of Prince Henry, Duke of Gloucester, a son of King George V), a first cousin of the Queen, who died in an air crash in 1972 at the age of 31, was reliably diagnosed with variegate porphyria. This is basically a dramatic monologue written about love and some melodramatic features also can be found here. 2. It results from low levels of the enzyme responsible for the fourth step in heme . Recent medical tests performed on the remains of Charlotte and Feodora, who committed suicide at the age of 66 in 1945, have revealed that both probably suffered from porphyria. Pain treatment with long-acting opioids, such as morphine, is often indicated, and, in cases where seizure or neuropathy is present, gabapentin is known to improve outcome. The technique has been shown to be effective in cell culture, but there is still a long way to go before gene therapy for CEP can be used in clinical practice. In 1810, he suffered a total relapse, from which he was never to recover. He often . . Bill Gates (1955 - ) American businessman, founder of Microsoft. [citation needed] ", The Drug Database for Acute Porphyria - comprehensive database on drug porphyrinogenicity, https://en.wikipedia.org/w/index.php?title=Porphyria&oldid=1140390972. Generally they do not have symptoms, but may pass the gene onto offspring. Mary's son James I and VI is also often cited as suffering from the condition. J.H.Schultz described a case of a 33-year-old male weaver who suffered from skin sensitivity, an enlarged spleen and reddish urine since he was an infant. In each type of porphyria, there is a distinctive pattern of porphyrins in blood, urine and faeces. A careful medication review often will find the cause of pseudoporphyria. Download Porphyria stock photos. Clinical chemistry and Metabolic Medicine. [citation needed], There are eight enzymes in the heme biosynthetic pathway, four of whichthe first one and the last threeare in the mitochondria, while the other four are in the cytosol. His friend Henry Whitney noted that, No element of Mr. Lincolns character was so marked, obvious and ingrained as his mysterious and profound melancholy. The severity of Lincolns hypo remains a point of contention among historians today, but many believe that he may have suffered from clinical depression. The process is so similar to human porphyria that some researchers hope to find a cure for the human condition by studying the properties of so-called "vampire plants," like maize. [citation needed], Up to 90% of the genetic carriers of the more common, dominantly inherited acute hepatic porphyrias (acute intermittent porphyria, hereditary coproporphyria, variegate porphyria) have been noted in DNA tests to be latent for classic symptoms and may require DNA or enzyme testing. Part-time work or a job with a flexible schedule are good options. score: 161 of 200 (80%) required scores: 1, 145, 172, 186, 195 list stats leaders vote Vote print comments . Age group. For instance, the polyneuropathy of acute porphyria may be mistaken for GuillainBarr syndrome, and porphyria testing is commonly recommended in those situations.
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