Tag Archives: Rare Diseases

Time to open our eyes to Chinese science?

I hope my readers will kindly tolerate another of my blog posts about the pandemic and science in general, not focused on the main topics of this blog, which have been superrecognition and synaesthesia.

When I began writing this post (August 26th 2020) I was watching a passionate and articulate address to the National Press Club of Australia in Canberra by Wang Xining, Deputy Ambassador of China in Australia, and I knew it was time to share observations and questions about Chinese science and the pandemic that I had been thinking about for a while. That address has been described as fascinating, and it is a big, big deal to Australians, as Australia’s economy is massively dependent on China. Their consumer goods flow here, our minerals, seafood, wine and agricultural products flow there and their university students formerly funded our higher education sector. There’s also the ever-present military threat of China, the world’s biggest nation in terms of population, with 55 times the population of Australia, and frequent news stories about cyber-espoinage with clear inferences that the Chinese government is behind these online attacks and hacks. The important economic and cultural relationship between our nations has been frought recently, following what appears to be a universal assumption that China created the coronavirus pandemic through their traditions of keeping live wild animals from all parts of the world for sale at markets, to be used as meat, pets and ingredients of traditional medicine. Australia’s Prime Minister apparently caused offence to China by calling for an inquiry into the origins of the pandemic virus, with some offensive commentary and a trade war from China in return. In early September China has continued their habit of placing unreasonable restrictions on Australian produce exported to China, and an Australian journalist has been detained in China.

Mr Xining spoke of the depth of sentiment felt by offended Chinese people in regard to our PM’s call for an inquiry into the origin of the pandemic. I think this is an important point, but I also reject Xining’s calls during his speech for Australia to mind our own business in regard to the way China run their country. There are too many terrible and large scale violations of basic human rights by the government of China going on for any decent person to ignore or excuse China’s government’s actions and policies. I’m certainly no fan of the Chinese governnment, but I do have questions about whether it has been fair of the world to have assumed the guilt of the Chinese nation, government and culture in regard to the origin of covid-19. It is common to hear the novel coronavirus referred to as “the Chinese virus” by the President of the USA, and similar angry and racist sentiments from my fellow Australians. It happens, and I believe these assumptions about the origin of the pandemic should be examined.

First, I’d like to offer my outline of Chinese science. As you’d expect from the world’s largest nation, it is huge. For a number of years China has ranked second behind the USA for the number of science papers published in English-language science journals. And as you’d expect from a nation that has a deep cultural history that has been largely insulated from the rest of the world, without the widespread use of a second language of a colonising nation (such as English or French), there is also a huge volume of research and scholarship from Chinese scientists published only in a Chinese language. This wealth of inaccessible scientific literature has been described as “…a kind of terra incognita of scholarship” (Chevassus-au-Louis, 2019, p. 67). What scientific insights from China is the rest of the world missing out on? I can only guess.

The unusual angle from which I have viewed the question of the origin of covid-19 is my interest in another vascular medical condition. Erythromelalgia is a supposedly rare and poorly-understood pain condition that can be caused by infection with a contagious pox virus similar to mousepox and also other infections, but also has many other causes and associations. There is a genetic primary form of the disorder and it can also be secondary to many other diseases, and can be “idiopathic”. As is the case with many rare medical conditions, Australian medicine does not do a great job of diagnosing and responding to erythromelalgia (EM). When a patient has any rare disease, Australian GPs seem to be too comfortable with making a “quick and dirty” diagnosis of a common disease that does not really fit the picture presented by the patient, then hastily write a script for an antibiotic or painkiller in the hope it will address the issue. There seems to be an assumption that the patient will keep coming back if the prescription doesn’t work. A good GP might investigate and search for a tricky but fitting explanation, or show the care and humility of making a referral to a medical specialist, but such doctors don’t grow on trees.

Awareness of rare diseases is often lacking among doctors and patients alike, and information for the public about such conditions is often poor quality. EM can be treated cheaply and effectively without medical help with the application of cooling to the skin, but a good part of many popular English-language articles about EM warn patients to not immerse feet in cold water as it can damage skin, with no other reference to self-help measures. As if an EM patient suffering blazing pain would care about waterlogged feet! In contrast, there’s plenty of patient info on painkiller drugs to treat EM, despite the known serious  risks of such treatments.

Based on my experiences, I don’t believe there’s a lot of personal investment to be found among Australian doctors to identify cases of  rare diseases or novel infectious outbreaks. Within the Australian medical and pubic health system a lack of curiosity and an unwillingness to consider novel, speculative or rare diagnoses seems to be commonplace. There is also a common attitude that Australia is an island generally protected from interesting infectious diseases by geography, climate, vaccination and clean habits. This is why whenever we are required to answer disease screening questions the first question is “Have you travelled overseas recently?” This complacent Australian attitude that infectious diseases originate from somewhere else shows an ignorance of our history. The highly-dangerous zoonotic Hendra virus, named after a suburb in Queensland, has killed Australians in a number of outbreaks, and like the covid-19 virus it originated from bats and infects another mammal species (the horse in the case of Hendra) and infects humans. You don’t even need to go near a bat to catch Hendra; contact with an Australian horse living within the ever-expanding range of fruit bats is the way it is caught. Hendra is a disease that originates in Australia and was identified by Australians, but that’s not such a huge achievement of medical detective-work. Hendra is an obvious type of outbreak; it is high in morbidity and fatality, has shown no transmission between humans and its victims work with horses. If a less obvious infectious disease, such as the novel coronavirus, with its asymptomatic spread between humans and confusion with pneumonia, or epidemic erythromelalgia, with its main manifestation of pain that is easily dismissed or misdiagnosed and has no objective test,  jumped to humans from Australian bats or mice tomorrow, and started speading among people, would anyone notice? I doubt it.

My gripes about the Australian medical system are endless and might not be of interest, but I think the contrast with the way Chinese medical science has researched and written about erythromelalgia is revealing. The more I have read of the journal literature and research on the condition, the clearer it has become to me that Chinese doctors and scientists have made a massively greater contribution to the study of the condition as an epidemic disease than any other nation’s researchers. Even though erythromelalgia (EM) was first described in the 1800s, it appears that Chinese scientists are the only researchers who have documented the epidemic form of the syndrome. A Chinese scientist reported the first Chinese case study in 1945 and the first Chinese epidemic of EM in 1960 (Liu et al, 2015). According to Liu and colleagues (from universities in China and Australia) at least 100 studies of EM have come from Chinese authors, most of them about the epidemic form. Some of the leading pioneering researchers of epidemic EM were from the virus research institute in Wuhan. Liu and colleagues’ paper lists 12 epidemic EM events among Chinese school students, while another Chinese paper reports that dozens of EM outbreaks have been reported in China since the mid-20th century (Yuzhou et al, 2015). I think it is interesting to note that Liu et al write of schools reporting these events, which suggests to me that the Socialist social structure of China might mean that schools play a part in public health monitoring in a monolithic government network that would not exist in countries like Australia. I can’t imagine a high school principal in Australia being necessarily aware of or reporting a spate of pain-related illness among students (mostly teenage girls) to any government authority, especially not a principal of a private church-run school. In contrast, the Chinese are “right onto” EM as a public health problem. They have even researched the detection of EM outbreaks using a Chinese search engine for surveillance. Liu and colleagues suggest that EM outbreaks are common in China, but the language barrier prevents due recognition of this interesting phenomenon by international researchers. They have argued that the EM outbreaks are caused by temperature fluctuations, but they list other non-infectious epidemic causes theorised by other researchers. It is important to note that other Chinese researchers have noted pharyngitis associated with an EM outbreak, have taken throat swabs, and have isolated the erythromelelgia-related poxvirus (ERPV), and an American-funded team of researchers published their report of the sequence of the genome of ERPV in 2012, so there is strong evidence for the model of EM outbreaks as infectious disease, and most of this research work is from China.

Astonishingly and mysteriously, there are no records of any EM outbreak in “developed countries” (Yuzhou et al, 2015), and I have not found any report of any individual human ERPV infection outside of China. Why? I wouldn’t have thought that living conditions are hugely different between China and coutries like the US and the UK, and it’s not as though a viral infection can’t cross international borders. In 2020 we all know too well how a virus can span the globe. If EM epidemics really are caused by temperature fluctuations, why the heck wouldn’t they happen outside of mainland China? Could population density or diet be a factor in Chinese epidemic EM? EM outbreaks cannot be dismissed as some cultural psychological phenomenon or school-avoider’s malingering. One of the symptoms is red skin, and a virus has been isolated. Those things can’t be faked. Some research suggests that both the epidemic and non-epidemic forms of EM affect mostly females. Does a sexist bias prevent EM cases in developed countries being properly recognised and diagnosed? There are many reports of women in Anglophone countries afflicted with the painful condition of endometriosis being dismissed by doctors as “head-cases”. I guess it is possible that the Chinese have some kind of genetic vulnerability to EM that might explain why it is apparently rare outside of China but common within it, but if that is the case, I’ve got to wonder why the genetic form of EM seems to have been described by non-Chinese researchers, and I’ve found no suggestion of it being linked to race.

It seems to be not only the case that non-Chinese researchers haven’t studied epidemic EM, some of them also seem to be blissfully ignorant of its existence. I’ve found one outline of EM published by the American National Institutes of Health that fails to mention either the epidemic form of EM or EPRV, and claims that EM is “..extremely rare in children” but if it occurs in kids, is typically associated with serious outcomes. Such claims sit oddly with the fact that the many Chinese EM outbreaks mostly affected students in schools for the age range of 12 to 18.

I suspect that Chinese epidemiological research is somehow globally superior, able to identify new and obscure disease outbreaks, possibly due to access to data from a massive population and “surveillance state”. But what do I know? I’m only an over-educated housewife. I think it is possible that Chinese researchers have been studying in detail epidemics of EM within China while medical researchers outside of China have been blissfully ignorant of EM outbreaks happening in their own neighbourhoods. I think it is also possible that the same situation could have happened in relation to the covid-19 outbreak, first identified in December 2019 in Wuhan, China, with the first Chinese covid-19 case reportedly recorded on November 17th 2019. Were the Chinese merely the first to understand the existence of the deadly covid-19 virus in an epidemic form in their own (densely-populated) territory, without it having originated in their backyard? There have been hints and shreds of evidence that covid-19 existed outside of China before it should have, if you follow the popular narrative of coronavirus spreading out of China in 2020. There’s the possible French case from December 2019 (expert reaction here), a possible spate of early English cases, evidence of covid-19 in Spanish wastewater in March 2019, and a research paper by a Cambridge geneticist challenging the idea of an origin in Wuhan.

I think there’s something rather sad and strange going on when large numbers of people find it very suspicious that a new (mostly non-lethal and often asymptomatic) virual outbreak (the novel coronavirus) is identified in the same city that has a world-class institute for the study of viruses (Wuhan) and conclude that this coincidence must be the result of some foreign mad scientist’s mishap or misbehaviour. You can call me a Sinophile, you can call me a mug, but I think it is just possible that a city that includes world-class virologists might simply be better-placed to detect and report a new viral outbreak than a city without them. 

Another computer algorithm created to perform a face perception task that any person can do without even thinking

Wenz, John This Algorithm Guesses Your Biological Age Just by Scanning Your Face. Popular Mechanics. April 1st 2015.

http://www.popularmechanics.com/science/health/a14874/facial-scans-biological-age/

“For example, if a person appears to be considerably older than they really are, a doctor might look for something to explain that, whether it’s a genetic disorder or a lifestyle issue.”

I do not doubt the link between appearance of facial aging and genetic syndromes or drug addiction as I personally know of some real-life examples of both, and I don’t doubt that a good doctor should look for this in facial appearance and make appropriate investigations, but I do question why any doctor with normal eyesight and face perception would need a computer to do this, and I also question whether under the current “5 minute medicine” model of general practice in Australia, most doctors would have the time or the inclination to enquire about apparent accelerated physical aging in a patient.

I know of quite a long list of things that might accelerate the appearance of aging in the face, including at least one genetic disorder (I know of one family but do not know exactly which disorder), a drug addict lifestyle, smoking (which apparently destroys some vitamin and thus exposes cells to extra stress), and poorly controlled diabetes. There are probably many more things that can have this effect. Ask your doctor.

 

Oh wow! My idea is being developed by the scientists, and they are scientists in my home town.

I’ve just noticed a story that has been run on the ABC programs 7.30 WA and State to State about researchers in Perth (scientists, doctors and an orthodontist), including some at PMH, who are creating a database of normal children’s faces to create the Perth face-space project, which appears to be a tool in development for the identification of the countless rare (genetic?) diseases which have characteristic facial appearance or facies. This knowledge can be shared globally, so this is Western Australia’s gift to the world. Wow!  We can’t make really good coffee in Perth, but we can do some interesting things here. There is already a research paper by Perth researchers and a Belgian researcher published in which this type of 3D face database method has been researched as a possible tool for monitoring and discriminating a group of rare metabolic diseases in which disease progression alters the facial appearance. I’m very excited to learn about this project because the idea of using face recognition to diagnose or identify rare diseases and rare genetic syndromes is an idea that has been obvious to me for many years, as a super-recognizer who is not only able to memorize faces very well, but is also able to compare and analyse faces with a degree of unconscious skill that is probably above average. I’m sure that most people have an awareness of the significance of facial appearance.

One important consideration needs to be factored into this kind of project – the definite possibility that the characteristic facial features that are being studied can be artificially altered before the patient ever goes near a face scanner or a medical face photographer. Many good parents spend a small fortune with othodontists getting their offspring’s teeth straightened and in doing this they are often erasing one of the signs of a genetic or developmental anomaly. Children can also be the subject of plastic surgery on the face, especially if they were born with a disfiguring facial defect.

One thing that I don’t think is mentioned in this news story is the fact that the studying of faces as an element of medical diagnosis is nothing new at all and does not require any fancy new technology or photographing of patients at all. This new project looks like it will be a great refinement of an idea, but I don’t think it will achieve anything that hasn’t already been done before using human abilities alone. Descriptions of rare diseases and genetic syndromes in medical textbooks or online info sources often feature photographs of patient’s faces that display characteristic features linked with the diseases and conditions. These features can also be described in detailed technical/medical language, much like detailed technical botanical descriptions of the parts of plant species using specialized terms (jargon). Doctors who specialize in genetics or related specialties know what this all means, and they should also have a high to super-recognizer ability to recognize facial phenotypes or at least have the ability to do visual image matching/comparison from the photographs. A specialist doctor with access to photographic resources and good eyes and sound and well-connected intra-cranial face processing hardware should be able to consider the patient’s face properly in a diagnostic process, no online database needed. But this process is labour-intensive, so I can see a use for an online face database.

3D Camera used to detect disease. http://www.abc.net.au/news/2013-04-26/3d-camera-used-to-detect-disease/4654822

Stefanie Kung, Mark Walters, Peter Claes, Jack Goldblatt, Peter Le Souef, and Gareth Baynam A Dysmorphometric Analysis to Investigate Facial Phenotypic Signatures as a Foundation for Non-invasive Monitoring of Lysosomal Storage Disorders. JIMD Reports. 2013; 8: 31–39. Published online 2012 June 10. doi: 10.1007/8904_2012_152  http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3565667/

Saw, Samantha Defining normal. InkWire. April 17, 2014. http://inkwirenews.com.au/2014/04/17/defining-normal/