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The existence of rare and unusual diseases shows how much we still have to learn about the human body. For some diseases, one may even wonder if they really exist. Here are 5 fascinating diseases on our list, from a syndrome that causes an individual to spontaneously produce pure alcohol in the gut, to a syndrome in which various tissues in the body grow disproportionately, severely altering a person’s appearance and can lead to many other health problems.
The Brewery Syndrome: The gut alone produces pure alcohol that gets you drunk
Most of us only experience drunkenness and the “hard morning” that follows after drinking a few strong drinks. While alcohol can make us feel good at first, a hangover is a brutal reminder that our bodies don’t like partying as much. However, there are people who suffer from poisoning and a hangover without having consumed a significant amount of alcohol, or even without having ingested it at all. These people suffer from a rare condition called self-fermentation syndrome or intestinal fermentation syndrome, in which pure alcohol (ethanol) is produced in a person’s intestines after eating food. rich in carbohydrates. An excess of Saccharomyces cerevisiae (a type of yeast) in the intestine is the main culprit. These yeasts generate a fermentation process that produces ethanol. However, the researchers note that spontaneously produced alcohol would not be enough to punish someone for drunk driving.
Although brewery syndrome is not expected to produce a high blood alcohol level, some cases can be more severe. However, a variation of this condition can have more serious effects. Because the liver typically processes ethanol, people with liver malfunction can suffer from a form of beer syndrome in which alcohol builds up and stays in the system for longer.
Symptoms that accompany this condition include belching, chronic fatigue syndrome, dizziness, disorientation, hangover, and irritable bowel syndrome (IBS).
All of these symptoms can have an additional impact on a person’s mental health and physical well-being. In an interview with the BBC in the UK, a person with brewery syndrome explained how the disease affected her before she was diagnosed: “It was weird, I ate carbohydrates and I was suddenly clumsy, vulgar. Every day for a year I woke up and threw up. Sometimes this happened for several days in a row. Sometimes it was just like “bam! I’m drunk “.
Fortunately, most people can cope with brewery syndrome by making changes to their diet. Switching to low-carb, high-protein foods. A further step in the treatment of this disease is to take antibiotics and antifungal therapy.
Foreign Accent Syndrome: We start speaking with an accent elsewhere
Imagine this: you were born and raised in Paris and speak in a stereotypical metropolitan manner. But one day, while playing one of your favorite sports, you get a severe blow to the head and pass out. When you wake up in the emergency room and call the nurse, you realize that something shocking has happened to you: your Parisian accent has disappeared and has been replaced by what looks like a strong Marseillaise accent.
What happened ? This thought experiment illustrates an extremely rare disease: foreign accent syndrome. A person with foreign accent syndrome has a speech disorder, which makes them appear to speak with a foreign accent. It is a speech disorder, which results from damage to the parts of the brain responsible for the coordination of language. This brain damage can be the result of a stroke or traumatic brain injury, and the developing language barrier makes it appear that the person has suddenly acquired a foreign accent. The researchers note that the recorded “changes” of accent associated with this syndrome include switching from Japanese to Korean, from British English to French, from American English to British English, and from Spanish to Hungarian.
However, some studies suggest that while the majority of cases of foreign accent syndrome may be due to brain damage, in some cases the condition may have a psychogenic origin. In a review of the literature published in the journal Frontiers in Human Neuroscience in 2016, the researchers conclude that psychogenic foreign accent syndrome is a subtype of this condition. The authors write: “Psychogenic foreign accent syndrome is related to the presence of a psychiatric or psychological disorder in the absence of demonstrable neurological damage or an organic condition that could explain the accent.” This subtype, they add, appears to occur more often in women than in men, usually between the ages of 25 and 49.
Rotten fish odor syndrome: sweat, breath, and urine that smell of tide
When a person has trimethylaminuria, more commonly known as rotten fish odor syndrome, they emit an unpleasant body odor, reminiscent of the smell of rotting fish, through sweat, breath, and urine. Fish odor syndrome causes a person to have a strong, unpleasant body odor. This can have a serious negative impact on mental health. This happens when the body is unable to break down the organic compound trimethylamine, which produces that strong “fishy” smell.
Fish odor syndrome appears to occur in people who have specific mutations in the FMO3 gene. This gene instructs the body to produce enzymes that break down organic compounds, such as trimethylamine. The strength of the unpleasant smell can vary over time and even from individual to individual. However, the nature of this condition usually has a large impact on a person’s daily life and mental health.
The researchers write in a 2013 review of trimethylaminuria published in the Journal of Clinical and Aesthetic Dermatology: “Patients with rotten fish odor syndrome are often ridiculed and suffer from low self-esteem. By moving away from their peers, they become alone. This can have a negative impact on their academic results. Anxiety can also be a problem, especially if they are unable to detect them [propre] smell. “Patients also admit that they feel shame and distress because of their condition and there have been reports of suicide attempts,” the researchers add.
Management strategies for trimethylaminuria may include dietary changes to eliminate or reduce the presence of trimethylamine precursors. These precursors include trimethylamine N-oxide, found in marine fish, and choline, found in eggs, mustard seeds, chicken and beef liver, and raw soybeans. However, researchers also note that excessively low choline levels (choline deficiency) can lead to other health complications. Like liver problems, neurological diseases and a higher risk of cancer.
Fatal familial insomnia syndrome
We all know that insufficient or poor quality sleep can affect every aspect of a person’s life and well-being, from their physical health to their mental health. In some people, unfortunately, the sun is impossible to find.
Fatal familial insomnia is a degenerative brain disease for which there is currently no cure. While most of us can make appropriate lifestyle changes to improve sleep hygiene and avoid the impact of sleep deprivation, unfortunately some people have a rare condition called fatal familial insomnia. It is a degenerative genetic disease of the brain that results in increasingly severe forms of insomnia. They end up causing “significant physical and mental deterioration”. Additionally, fatal familial insomnia can impact the autonomic nervous system. Our “autopilot”, which regulates processes such as breathing, heart rate and body temperature. A variation of the prion-bound protein gene, which regulates the expression of the prion protein, is usually the cause of this condition. Abnormalities in the protein can be associated with neurodegenerative diseases.
In fatal familial insomnia, damaged proteins build up in the thalamus, a brain region that plays a crucial role in a person’s ability to move and feel. This damages the brain cells and leads to the severe physical and mental symptoms caused by this condition. Despite the hope that antipsychotic drugs and drugs used to fight malaria could treat this disease, the approach proved unsuccessful. There is currently no cure for fatal familial insomnia and research into this disease is ongoing.
Proteus Syndrome: the evil that befell John Merrick, aka “Elephant-Man”
One of the strangest rare diseases recorded to date is Proteus syndrome, a condition in which different types of tissue – bone, skin, but also arterial organs or tissues – grow disproportionately.
This disease has genetic causes, although it is not hereditary. Rather, it results from a mutation in the AKT1 gene, which occurs randomly in the uterus. There may be no visible signs of the presence of Proteus syndrome at birth, as tissue overgrowth usually appears between 6 and 18 months. The condition gradually worsens over time. The syndrome can lead to a number of other health problems. These include intellectual disabilities, vision problems, seizures, as well as non-cancerous tumors and deep vein thrombosis, a condition characterized by the abnormal formation of blood clots.
Historically, the most famous case of Proteus Syndrome was that of Joseph Carey Merrick (1862-1890), cruelly called “the elephant man”, in 19th century Britain.
At this time in history, rare ailments like this often made a person become a curiosity of nature in public. Merrick himself reported that the way others treated him, including doctors, made him feel “like an animal in a cattle market.” Fortunately, times and mindsets have changed. We now understand that any medical condition does not constitute a person’s identity. Today, medical care and medical research recognize that every individual’s well-being should be a priority.
With Pressesanté.
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