Reye’s Syndrome or (according to some) Reye-Johnson Syndrome has become fairly rare, which is splendid. But there are some cautionary tales. Here are some diseases (and their genes) that are described as Reye’s-Syndrome-like
Sophie Janois practices law near Paris France. She is involved in several cases featuring people with autism spectrum disabilities. She was quoted as saying,
“‘France is 50 years behind’: the ‘state scandal’ of French autism treatment”
We felt that understated the seriousness of the problem so we replied:
“France is 50 years behind autism”. Actually, we would argue that the discredited justifications of Bruno Bettelheim are more than seventy years old and that the world outside of France is itself ten years behind science. If the nation that invented the metric system while the rest of us divided by 12, 16, and 60 would not mind some advice, we would suggest having a small number of classrooms teaching three classes of 16 students with special needs. In the United States, this means at least one senior teacher, one assistant, five or more aides and often cleaners and drivers of vehicles. The program is strictly performance-based and is very similar to what a young neurotypical adult would study at a university in China. Classes are two hours a day five days (seven preferred) a week and teachers teach the venerable Chinese martial art of Tai Chi Chuan. Most students will have significantly better health, an inclusive social group, and life goals in the form of collegiate bachelor’s and master’s degrees. There would be a very heavy use of sensors (sometimes known as the Internet of Things) embedded in clothing. An important result is the daily digital scores with the corresponding videos. Parents and doctors can make informed quantitative decisions about changes in medicine, diet, sleep, logistics and so on: if Tai Chi scores increase, the change was effective. By anonymously comparing different velocities of learning for similar genotypes, it should be possible to accelerate the discovery of optimal treatments. As we write, there are already more than 200 genes in 100 named syndromes grouped into the so-called autism spectrum. It is already clear that not only must we compare by gene, but even that which specific mutation often has a lot of importance. We would like to think that the illustrious Alain Desrosières would have approved the capture of exabytes of information in detail. We have written a long document illustrating some details. It is, we regret to point out, in English, although with a French accent. The proposed solution is not limited to the autism spectrum – more than 30 categories of disability are already supported. If you feel that the material might interest you, we will undertake an official translation.
“La France a 50 ans de retard sur l’autisme”. En fait, nous soutenons que les justifications discréditées de Bruno Bettelheim datent de plus de soixante-dix ans et que le monde extérieur de la France est lui-même à dix ans de la science. Si la nation qui a inventé le système métrique alors que le reste d’entre nous divisait par 12, 16 et 60 ne verrait pas d’inconvénient à un conseil, nous suggérerions de doter un petit nombre de salles de classe enseignant trois classes de 16 élèves ayant des besoins spéciaux. Aux États-Unis, cela signifie qu’au moins un enseignant principal et un assistant ainsi que cinq assistants ou plus et souvent des nettoyeurs et des conducteurs de véhicules. Le programme est strictement basé sur la performance et est très similaire à ce qu’un jeune adulte neurotypique étudierait dans une université en Chine. Les cours sont deux heures par jour cinq jours (sept préférés) par semaine et les enseignants enseignent le vénérable art martial chinois du Tai Chi Chuan. La plupart des étudiants auront une santé sensiblement meilleure, un groupe social inclusif et des objectifs de vie sous forme de baccalauréat collégial et de maîtrise. Il y aurait une très forte utilisation de capteurs (parfois connus sous le nom d’Internet des objets) intégrés dans les vêtements. Un résultat important est les scores numériques quotidiens et les vidéos correspondantes. Les parents et les médecins peuvent prendre des décisions quantitatives éclairées sur les changements dans les médicaments, l’alimentation, le sommeil, la logistique et ainsi de suite: si les scores du Tai Chi augmentent, le changement était efficace. En comparant de manière anonyme différentes vitesses d’apprentissage pour des génotypes similaires, il devrait être possible d’accélérer la découverte de traitements optimaux. Comme nous l’écrivons, il y a déjà plus de 200 gènes dans 100 syndromes nommés regroupés dans le soi-disant spectre de l’autisme. Il est déjà clair que non seulement il faut comparer par gène, mais même quelle mutation spécifique a souvent beaucoup d’importance. Nous aimerions penser que l’illustre Alain Desrosières aurait approuvé la capture d’exaoctets d’informations en détail attactique. Nous avons écrit un long document illustrant certains détails. C’est, nous regrettons de le signaler, en anglais, quoique avec un accent français. La solution proposée ne se limite pas non plus au spectre de l’autisme – plus de 30 catégories de handicaps sont déjà soutenues. Si vous estimez que le matériel pourrait vous intéresser, nous entreprendrons une traduction officielle.
We currently have one student with a malfunctioning ZIC3 gene. This gene normally is found on the X chromosome in q26.3 region. ZIC3 “probably functions as a transcription factor in early stages of left-right body axis formation. Mutations in this gene cause X-linked visceral heterotaxy, which includes congenital heart disease and left-right axis defects in organs”. One of the realities that Tai Chi theory, with its foundations in Traditional Chinese Medicine, bumps up against is that we humans are not symmetric -the heart in most people is considerably left of the centerline. And the four-chambered heart itself, while a marvel of bio-engineering, is not symmetric either.
The student wears biosensors (a smart watch that does not tell time) on his wrist to track blood pressure, heart rate and body temperature. Preliminary indications are that the data might be more accurate if he wore two – one on each wrist. We are not convinced the wrist is the best location. Or that even two would be enough. Maybe ankle and even neck locations are useful. While considering those lofty thoughts there are some more immediate and local problems. He doesn’t like the more commonly available watchbands – metal or plastic. They chafe. So we need lightweight sensors that can be worn comfortably. So far, we also need a device that doesn’t wander around on the wrist because we cannot distinguish between spikes and drops in the data due to movement versus due to a cardiac anomaly.
Jean-Baptiste Joseph Fourier (21 March 1768 – 16 May 1830) was a French mathematician and physicist who, among other things, put forth the proposition that a function, whether continuous or discontinuous, can be expanded in a series of sines of multiples of the variable. So we have to see if Fourier analysis can overcome the ambiguity mentioned above. Fourier had experienced “some attacks of aneurism of the heart” in Egypt and Grenoble. These frequently caused suffocations and falls. More on Fourier and his student Navier later.
The student does things about 25% per cent more slowly than most of his classmates. They do eight repetitions of each of the warn-ups – he does six. We found an excerpt of a video of Grandmaster Chen Zhenglei explaining that emphasizing the Four Gos (go soft, go slow, go low and go again) were the hallmarks of a Tai Chi master and that going slower just meant the student was further along.
courtesy a Bruce Springsteen song (“Two Hearts”)
and before that a song with that title by Jerome Kern and Johnny Mercer sung by Frank Sinatra. It had a chorus of
When two hearts are better than one?”
Brain On Fire: My Month of Madness is an autobiography by Susannah Cahalan. WARNING: although there is a happy ending, this is pretty rough reading. She was afflicted with NMDA receptor antibody encephalitis. This condition has likely been around for a long time, but was first described scientifically in 2007: Dalmau, Josep; Gleichman, Amy J; Hughes, Ethan G; Rossi, Jeffrey E; Peng, Xiaoyu; Lai, Meizan; Dessain, Scott K; Rosenfeld, Myrna R; Balice-Gordon, Rita; Lynch, David R (2008). “Anti-NMDA-receptor encephalitis: Case series and analysis of the effects of antibodies”. The Lancet Neurology. 7 (12): 1091–8. doi:10.1016/S1474-4422(08)70224-2. PMC . PMID 18851928.
NMDA is an abbreviation for N-Methyl-D-aspartic acid. The commonly occurring and absolutely necessary amino acid glutamate works to send signals between nerve cells, especially in the brain. Under normal conditions glutamate plays an important role in learning and memory. But abnormally high concentrations of glutamate can lead to overexcitation of the receiving nerve cell. Or the receptors for glutamate on the receiving nerve cell can be oversensitive, such that less glutamate is needed to excite the nerve. This overexcitation can lead to effects that can cause cell damage and/or death. Certain glutamate receptors in the nerve cells of patients with Huntington’s Disease tend to be oversensitive.
What Susannah Cahalan had was somewhat similar in that her own immune system attacked her brain.
symptoms described in the next blog
Hermansky-Pudlak Syndrome (HPS) is a genetic metabolic disorder which causes albinism, visual impairment, and a platelet dysfunction with prolonged bleeding. in some patients there is accumulation in the cells of a wax-like (hence the name) substance presently known as “ceriod”, which is associated with inflammatory bowel disease, pulmonary fibrosis, and kidney disease. Hermansky-Pudlak syndrome was originally identified in two patients in Czechoslovakia in 1959. The doctors involved were Hermansky and Pudlak. HPS has since been identified in people all over Planet Earth – of interest to epidemiologists is this rare group of diseases is very prevalent among Puerto Rican people due to a “Founders Effect” on that island. One in 20 people in the northwestern part of Puerto Rico carry the HPS1 gene. One in 1,600 in this region have HPS1. HPS3 is also common on the island, primarily in the central region. One in 60 people on the island carry the syndrome. Across our planet, the incidence of HPS is somewhere between 1 in 500,000 to 1 in a 1,000,000. Note that this is a conservative estimation because the disorder is so frequently undiagnosed. There are indications HPS may also occur with greater frequency in Japan and Switzerland.
So far, there are at least ten genes involved, each with a separate type of Hermansky-Pudlak syndrome.
“Mutations in the HPS1 gene cause approximately 75 percent of the Hermansky-Pudlak syndrome cases from Puerto Rico. About 45 percent of affected individuals from other populations have mutations in the HPS1 gene. Mutations in the HPS3 gene are found in about 25 percent of affected people from Puerto Rico and in approximately 20 percent of affected individuals from other areas. The other genes associated with Hermansky-Pudlak syndrome each account for a small percentage of cases of this condition.” Ominously, there are dozens of people with diagnosed with Hermansky-Pudlak syndrome where the genetic cause of the disorder is unknown. That would imply either more genes are lurking or there is some other factor, presumably epigenetic or environmental.
more to follow – check out https://www.hpsnetwork.org/