In each type of porphyria, there is a distinctive pattern of porphyrins in blood, urine and faeces. . This is basically a dramatic monologue written about love and some melodramatic features also can be found here. Porphyria is an inherited blood disorder that causes the body to produce less heme a critical component of hemoglobin, the protein in red blood cells that carries oxygen from the lungs to the body tissues. Both Plutarch and Suetonius suggest that Caesars symptoms were caused by epilepsy, a chronic neurological disorder that was well known to the ancients. 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. Create your free account or Sign in to continue. None of these are associated with acute attacks; their primary manifestation is with skin disease. 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. Historical victims of the worst, most disfiguring forms may have inspired tales of werewolves and vampires. Carys O'Neill Chicago, IL Portrait of Queen Victoria with her husband, Albert, and nine children at Osborne circa 1857. In fact, in the majority of cases, people who test positively . In: Neurology in Clinical Practice, 6th Edition. [38], Pain is severe, frequently out of proportion to physical signs, and often requires the use of opiates to reduce it to tolerable levels. [35], Hematin (trade name Panhematin) and heme arginate (trade name NormoSang) are the drugs of choice in acute porphyria, in the United States and the United Kingdom, respectively. The pain, burning, swelling, and itching that occur in erythropoietic porphyrias generally require avoidance of bright sunlight. [5], Acute intermittent porphyria (AIP), variegate porphyria (VP), aminolevulinic acid dehydratase deficiency porphyria (ALAD) and hereditary coproporphyria (HCP). This accounts for the property of fluorescence typical of the porphyrins. 2023 Scientific American, a Division of Springer Nature America, Inc. Children have a 50% chance of inheriting any of the 8 different types of Porphyria if their parents have the disorder. The princess was pregnant with a child which was expected to be the heir in the next generation to the British throne. Russell Brand is a British comedian, actor, and activist. 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. [1] The disease was described as early as 370 BC by Hippocrates. 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. These drugs need to be given very early in an attack to be effective; effectiveness varies amongst individuals. From Michelangelos arthritis to Abraham Lincolns depression, learn the stories behind seven historical figures who may have suffered from undiagnosed physical ailments. In the longer term, hope to cure porphyria is invested in gene therapy, in which the faulty genes are replaced with functional ones using a virus as a vector (delivery method). Pricing level. ABRAHAM LINCOLN - DEPRESSION and Marfan Syndrome. [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. Filed Under: Medical Articles and Infographics, 2023 HealthResearchFunding.org - Privacy Policy, 14 Hysterectomy for Fibroids Pros and Cons, 12 Pros and Cons of the Da Vinci Robotic Surgery, 14 Pros and Cons of the Cataract Surgery Multifocal Lens, 11 Pros and Cons of Monovision Cataract Surgery. Symptoms include burning blisters and swelling of the skin when exposed to the sun, along with severe. It is not unusual for someone to be IV fasting after a surgery for several days to have porphyria symptoms develop. Think about the schedule. George III ruled Britain for more than half a century and presided over the Seven Years War and the American Revolution, but throughout his life he also suffered recurring bouts of insanity that left him incapacitated and occasionally confined to a straitjacket. First, they overcome the bodys shortage of heme, relieving anemia. This causes local skin damage. It is due to a deficiency in the enzyme protoporphyrinogen oxidase (PPOX). Finally, the child was born at nine o'clock on 6th November, it was a boy, born dead. A follow-up study of George 3d's illness", "The Last King of America: The Misunderstood Reign of George III", "bulletin: The University of Sussex NewsletterThe Royal Family's Toxic Time-Bomb Friday 25th June 1999", "BBC News - UK - Charles visits 'relative' Dracula's home", "Vincent van Gogh's illness: acute intermittent porphyria? George III's recurring bouts of illness resulted in withdrawal from society to recuperate out of the public eye at Kew Palace, near Richmond. 1 What Causes Porphyria? William Blake, Friedrich Nietzsche, Ludwig Von Beethoven, Edgar Allen Poe, Vincent Van Gogh, and Ernest Hemingway all reported going through similar cycles of mania and depression. Donald Trump (1946 - ) Businessman, US President. [1] Diagnosis is typically made by blood, urine, and stool tests. Narcissists seek, and some achieve, incredible fame because they desperately need the public adoration, hordes of fans, and obsequious entourages that go along with it. Gender. [16][30] In general, urine estimation of porphobilinogen (PBG) is the first step if acute porphyria is suspected. See "New Light on Medicine," by Nick Lane; Scientific American, January 2003.). [1] Rates are different around the world. She went into labour on 3rd November 1817, the birth proved to be difficult and protracted, Caroline's ordeal lasted for fifty hours. Porphyria is an incurable genetic disease, the symptoms of which align perfectly with those ascribed to vampires. But bone-marrow transplantation presents its own challenges, and is considered a last resort. The severity of the jam also varies. There are seven different types of porphyria and in most cases, they are inherited. The sum of Prince William's symptoms were typical of porphyria.. Dr Bellringer tentatively diagnosed porphyria, although he was aware of the theory of the royal family's history of porphyria then being put forward by Macalpine and Hunter, he stated he "tried not to let it influence himwith all the symptoms, I was left with little option but to diagnose the Prince's condition as porphyria." Felicity helped organise the first BPA Awareness Day in Salford in 2005 and was made a patron in 2012. [1] The types that affect the nervous system are also known as acute porphyria, as symptoms are rapid in onset and short in duration. Weakness or paralysis, numbness, tingling, and muscle pain are other signs of porphyria. He was never informed when Queen Charlotte died in 1818. Treatment options are generally to reduce symptoms. Support Porphyria Research. 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. There are also cases of porphyria that have been known to be triggered by environmental factors. Hundreds died, and use of the fugicide was later banned around the world. Graham Greene. [16], If all the porphyrin studies are negative, one must consider pseudoporphyria. Her daughter, Princess Feodora of Saxe-Meiningen (born 19 May 1879) is also claimed to have suffered from the disease. 1. Symptoms vary greatly and can include abdominal pain, nervous system problems, mental health problems and skin problems. Martin A Crook.2006. It is usually an inherited disorder and both parents can pass along the abnormal gene. His urine was reported to have been blood red by his physicians. Burning. "An Encyclopaedia of Obscure Medicine". Nausea can be severe; it may respond to phenothiazine drugs but is sometimes intractable. This is typical of XLDPP and EPP. The same is true for their siblings, and later in life siblings are overrepresented in professional leadership roles, especially in politics. 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. The king Georges III, the lady with the tattoos, Sean Albright - American racecar driver has Variegate Porphyria (VP). Stokvis described the clinical syndrome as "porphyria," and from then on more and more forms of the syndrome were discovered. HISTORY reviews and updates its content regularly to ensure it is complete and accurate. He called the condition pempigus leprosus. It has been suggested that King George III of Great Britain suffered from the haem biosynthetic disorder, variegate porphyria. These include the following: This article is about the medical condition. These heme-like substances theoretically inhibit ALA synthase and hence the accumulation of toxic precursors. When heme binds with. In 1810, he suffered a total relapse, from which he was never to recover. While Caesars symptomsdizziness, depression, seizureshave traditionally been ascribed to epilepsy, a more recent study from 2015 argued that he might have actually suffered from a string of Transient Ischemic Attacks, or mini-strokes. X-linked dominant protoporphyria is a rare form of erythropoietic protoporphyria caused by a gain-of-function mutation in ALAS2 characterized by severe photosensitivity. People with porphyria should, therefore, avoid medications as much as possible, including recreational drugs such as cannabis. All these symptoms resolve once the acute attack passes. Interestingly, the heme pigment is robust enough to survive digestion, and is absorbed from the intestine (even though the protein parts of hemoglobin are broken down). In fact, these are all symptoms of a disease commonly known as, you guessed it, the vampire disease. Frida Kahlo. FACT CHECK: We strive for accuracy and fairness. Left figure is urine on the first day while the right figure is urine after three days of sun exposure showing the classic change in color to purple. One of the more common types of the disease is acute intermittent porphyria (AIP), which famously afflicted the unfortunate King George III of Britainthe mad king of Alan Bennetts play. Download Porphyria stock photos. This is very useful for diagnosis. Later, in the Byzantine Empire, the term porphyrogenitos, or "born to the purple," literally meant that the imperial heir was born after the fathers accession to the throne, in a palace room draped in the color. Avoiding alcohol, smoking, and having excess iron are all beneficial. The Great Emancipator managed to lead the country through one . Bipolar disorder is also difficult for a manager to handle. 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. Make a Gift. Acute Hepatic Porphyria (AHP, also known as Acute Porphyria) refers to a family of rare genetic diseases characterized by potentially life-threatening attacks and, for some people, chronic (ongoing and sometimes lifelong) pain and other symptoms that interfere in their ability to live normal lives. References to similar symptoms in the correspondence of her mother Vicky has been uncovered. The condition is thought to have been popular among the Habsburg family because of politically motivated inbreeding. Explore our digital archive back to 1845, including articles by more than 150 Nobel Prize winners. [32] In cases of So do many of our most famous leaders, notably Theodore Roosevelt, Winston Churchill, and General Patton. 1. His was most likely the first description of protoporphyria. {{https://porphyrianews.com/health-insights/hormonal-contraceptives-and-porphyria/[44]}} In 2019, givosiran was approved in the United States for the treatment of acute hepatic porphyria.[45][46]. She chaired the British and Irish Porphyria Network from 2008 to 2014. King George IIIPorphyria George III ruled Britain for more than half a century and presided over the Seven Years War and the American Revolution, but throughout his life he also suffered recurring bouts of insanity that left him incapacitated and occasionally confined to a straitjacket. Population Estimate: Fewer than 1,000 people in the U.S. have this disease. avg. Samples should be taken during an acute attack; otherwise a false negative result may occur. [1] Porphyrias may also be classified by whether the liver or bone marrow is affected. . However, they . Most people that become paraplegics have sustained serious spinal cord injuries. Browse 239 porphyria stock photos and images available, or start a new search to explore more stock photos and images. They may either have one of the acute porphyrias or they may have a mixed porphyria. One of the most common symptoms of people with acute porphyria is severe abdominal pain, which might also be accompanied by nausea, vomiting, constipation, and diarrhea. 2023 A&E Television Networks, LLC. [1] One type, porphyria cutanea tarda, may also be due to hemochromatosis (increased iron in the liver), hepatitis C, alcohol, or HIV/AIDS. My thesis aimed to study dynamic agrivoltaic systems, in my case in arboriculture. Generally they do not have symptoms, but may pass the gene onto offspring. Other typical risk factors for liver cancer need not be present. This is a rare disorder that mainly affects the skin. It's also called the Vampire disease. Thankfully, there was another man standing behind Churchill: his physician Lord Moran. [6] Elevation of aminolevulinic acid from lead-induced disruption of heme synthesis results in lead poisoning having symptoms similar to acute porphyria.[7][8][9][10][11][12]. Porphyrias usually develop because of an inherited genetic mutation. Tubman was known to go through spells and trance-like states, and one witness reported that she would drift off into a heavy sleep even when conversing, from which she will after a time arouse and resume the thread of her narrative where she left off. While her symptoms suggest she probably had narcolepsy, some have also suggested that she suffered from cataplexy, a condition that causes sudden muscle weakness and paralysis. 12. [citation needed]. Porphyria is an inherited disease caused by an abnormal hemoglobin, the chemical that carries oxygen in red blood cells. Anemia Porphyria - blood disorder abstract. George III. These include hemochromatosis and hepatitis C. Treatment of iron overload may be required. This effectively switches off the assembly line, bringing an end to the production of toxic porphyrin intermediates. The non-acute porphyrias are X-linked dominant protoporphyria (XLDPP), congenital erythropoietic porphyria (CEP), porphyria cutanea tarda (PCT), and erythropoietic protoporphyria (EPP). 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. However, levels of some porphyrins may be normal in people with porphyria who do not have current symptoms. Drawing blood (phlebotomy) can also help, because this quickly removes porphyrin intermediates from the circulation. 6 Acute porphyria, whether symptomatic or not, carries an increased risk of hypertension, hepatocellular carcinoma, and chronic renal failure. The recommended dietary allowance for carbohydrates is 130 g per day when Porphyria has been diagnosed. Gaten Matarazzo Gallstones, mild liver dysfunction, Immediate photosensitivity. Despite being one of the most talented and respected authors of his era, his symptoms occasionally led to public ridicule. [2] Porphyria cutanea tarda is believed to be the most common type. Hello I am from Pakistan. [citation needed] Whoopi Goldberg treated for fear of flying using TFT on The View, part 1. ", Medscape - Diseases of Tetrapyrrole Metabolism - Refsum Disease and the Hepatic Porphyrias, "OMIM Entry - 176090 - PORPHYRIA CUTANEA TARDA, TYPE I", "OMIM Entry - # 300752 - PROTOPORPHYRIA, ERYTHROPOIETIC, X-LINKED; XLEPP", "Orphanet: X linked erythropoietic protoporphyria", Royal Pharmaceutical Society of Great Britain, "Cimetidine and acute intermittent porphyria", "Porphyria - Diagnosis and treatment - Mayo Clinic", "FDA approves first treatment for inherited rare disease", "FDA approves givosiran for acute hepatic porphyria", "Community register of medicinal products for human use", "Born to the purple: the story of porphyria", "Did vampires suffer from the disease porphyria or not? When there is too much of this substance in the body, then there can be some significant health problems that follow. 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. Most kinds of sunscreen are not effective, but SPF-rated long-sleeve shirts, hats, bandanas, and gloves can help. Some of these are improbable, to say the least. Mary's son James I and VI is also often cited as suffering from the condition. Hemolytic anemia usually develops. What great leaders were bipolar? Published by University Books, Inc., 1959. They confidently put forward their claims in a paper in the British Medical Journal entitled "The Insanity of King George III: A Classic Case of Porphyria", which was followed up in 1968 by a further paper "Porphyria in the Royal Houses of Stuart, Hanover and Prussia". Winston Churchill. Oscar Wilde (June 1954) 3. Porphyria is a group of rare diseases that affect the heme production in our blood. 7. Heme infusions help in the treatment of porphyria patients in two ways. National Organization for Rare Disorders (NORD) 1900 Crown Colony Drive Suite 310 Quincy, MA 02169 Phone: 617-249-7300 Other Locations: Danbury, CT office 55 Kenosia Avenue Danbury, CT 06810 Phone: 203-263-9938 Fax: 203-263-9938 Washington, DC Office 1779 Massachusetts Avenue Suite 500 Washington, DC 20036 Phone: 202-588-5700 Pain should be treated as early as medically possible. Porphyria had tormented Mary Queen of Scots, who passed it on to her son, King James I of England. "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. Russell Brand is a British comedian, actor, and activist. [2], Patients with the acute porphyrias (AIP, HCP, VP) are at increased risk over their life for hepatocellular carcinoma (primary liver cancer) and may require monitoring. While the accumulation of porphyrins is usually caused by a genetic mutation, toxins (such as alcohol excess) and environmental contaminants can also cause the disease. [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. Diagnosis 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. Number of people. 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. 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. In September 2019, she was appointed as the first female . In fact, porphyria is sometimes referred to as the "vampyre . The exact prevalence of porphyria is unknown, but it likely ranges from 1 in 500 to 1 in 50,000 people worldwide. In some cases, paraplegia can be improved by extensive physical therapy and stem cell treatments. Thisa reference to the characteristic, Descendants of George III. Photosensitivity, neurologic symptoms, developmental delay, Photosensitivity with skin lesions. Finally, and most important, the fact that vampire reports were literally rampant in the 18th century, and that congenital erythropoietic porphyria is an extremely rare manifestation of a rare disease, makes it an unlikely explanation of the folkloric vampire.[58]. 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. People who have inherited porphyria from one or both parents have deficiencies in certain enzymes that help with normal hemoglobin functions. Thanks for reading Scientific American. I discovered sensitivity to fluoroquinolones after being incorrectly prescribed Cirpro for a basic UTI in 2014 and felt strange ever since. Signs and symptoms. Historians long hypothesized that his madness may have been due to an undiagnosed family history of porphyria. Signs and symptoms of porphyria vary, depending on the specific type and severity. A drug called Panhematin has been approved for acute versions of Porphyria and it helps to correct the hemoglobin deficiencies that the disorder causes in the liver. [21][22], In the autosomal recessive types, if a person inherits a single gene they may become a carrier. Vector illustration for medical. AIP is caused by low levels of porphobilinogen deaminase (PBGD), an enzyme also often called hydroxymethylbilane synthase. Unlike early paintings, the portraits completed when he was between the ages of 60 and 65 depict his left hand as limp and deformeda symptom of the degenerative joint disease osteoarthritis. The Queen continued to visit her husband but he failed to recognise her. The hepatic porphyrias are characterized by acute neurological attacks (seizures, psychosis, extreme back and abdominal pain, and an acute polyneuropathy), while the erythropoietic forms present with skin problems, usually a light-sensitive blistering rash and increased hair growth.Variegate porphyria (also porphyria variegata or mixed porphyria), which results from a partial deficiency in PROTO oxidase, manifests itself with skin lesions similar to those of porphyria cutanea tarda combined with acute neurologic attacks. . [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]. Only 6 cases of ALAD-deficiency porphyria (ADP) are documented. Search within . For instance, the polyneuropathy of acute porphyria may be mistaken for GuillainBarr syndrome, and porphyria testing is commonly recommended in those situations. Porphyria is named from the ancient Greek word porphura, meaning purple. His eldest son, George, Prince of Wales was appointed Regent. , Anna Nicole Smith. [43], Some liver diseases may cause porphyria even in the absence of genetic predisposition. Famous cases have been linked to porphyria, such as Prince William of Gloucester, a paternal cousin of the present British Queen Elizabeth II. Twice a week we compile our most fascinating features and deliver them straight to you. A high-carbohydrate diet is typically recommended; in severe attacks, a dextrose 10% infusion is commenced, which may aid in recovery by suppressing heme synthesis, which in turn reduces the rate of porphyrin accumulation. These are associated with accumulation of porphyrins in erythrocytes and are rare. [2] They may be inherited in an autosomal dominant, autosomal recessive, or X-linked dominant manner. [41] Magnesium sulfate and bromides have also been used in porphyria seizures; however, development of status epilepticus in porphyria may not respond to magnesium alone. Artist Michelangelo Buonarroti was still working on sculptures and architectural projects just a few days before his death at age 88, and he may have done it despite having hands that were riddled with arthritis. Instead, exposure to sunligh t can cause people with these types of porphyria to have skin symptoms such as: 2. But at the age of six, the Mexican artist was stricken with polio. 3. Samples must be protected from light and either refrigerated or preserved. The Vampire Disease is the reason why vampires can be considered real. Acute porphyrias The most common of these is acute intermittent porphyria. [36] In the United States, Lundbeck manufactures and supplies Panhematin for infusion. When I was born, I was completely all right. Russell Brand. The royal porphyria is porphyria variegata, which has an incidence in the general population of 1 in 100,000. 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. Age group. Individuals with congenital erythropoietic porphyria do not crave blood. Maria I of Portugal in a c. 1790s portrait attributed to Giuseppe Troni or Thomas Hickey. This is due usually to an inherited deficiency in an enzyme called ferrochelatase or heme synthase, the final enzyme in the heme synthetic pathway. Such drugs include:[24][25][26], In humans, porphyrins are the main precursors of heme, an essential constituent of hemoglobin, myoglobin, catalase, peroxidase, and P450 liver cytochromes. However, this can worsen cases of low blood sodium levels (hyponatraemia) and should be done with extreme caution as it can prove fatal. "Never go to bed mad. Demi Lovato. This is especially true if there is red or brown urine or a sudden sensitivity to sunlight. Many people with bipolar disorder find they do best in a quiet, relaxed workspace where they can easily concentrate. Later, Nancy Garden argued for a connection between porphyria and the vampire belief in her 1973 book, Vampires. 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. For most porphyrias, there are various possible treatments. The most commonly seen painting of Vlad the Impaler is a copy that hangs in the gallery of horrors at Innsbrucks Ambras Castle. 15. Heme function plays a central role in cellular metabolism. 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. Porphyria's Lover by Robert Browning. It has been suggested that Charlotte may have died as a result of porphyria. He was reported to have had lucid moments when he agonized pitifully about what he had become. [47] A bone marrow transplant has also been successful in curing CEP in a few cases, although long-term results are not yet available. It is assumed Mary inherited the disorder from her father, James V of Scotland. In 1889, Dr. B.J. "Sometimes the road less traveled is less traveled for a reason." Jerry Seinfeld (February 1997) 4. Sometimes the spleen must be removed in an attempt to treat the hemolytic anemia. Occasionally, there may be short-lived psychiatric symptoms such as anxiety, confusion, hallucinations, and, very rarely, overt psychosis. [citation needed], Any sign of low blood sodium (hyponatremia) or weakness should be treated with the addition of hematin, heme arginate, or even tin mesoporphyrin, as these are signs of impending syndrome of inappropriate antidiuretic hormone (SIADH) or peripheral nervous system involvement that may be localized or severe, progressing to bulbar paresis and respiratory paralysis. In. The signs may present from birth and include severe photosensitivity, brown teeth that fluoresce in ultraviolet light due to deposition of Type 1 porphyrins, and later hypertrichosis. This means that substances that are made during the process leading up to haem synthesis (including porphyrins) are overproduced and can build up within the body and cause symptoms. In congenital erythropoietic porphyria (CEP), one of the rarest forms, 18 different mutations in the gene encoding the enzyme uroporphyrinogen III cosynthase have been reported in different families. The enzyme (hematin) necessary to alleviate symptoms is not absorbed intact on oral ingestion, and drinking blood would have no beneficial effect on the sufferer. Androgens and fertility hormones have also triggered attacks. Hemolytic anemia. According to one historian, James suffered from itchy skin, gout and abdominal pain. King George IIIPorphyria Portrait of George III of the United Kingdom. It affects about 1 in 25,000 people in the UK. She experienced headaches and seizures for the rest of her life, but she also showed signs of narcolepsy, a brain condition which can cause rapid and unavoidable bouts of sleep.
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