Avian bone syndrome
Medically known as osteogenesis imperfecta (OI), Avian Bone Syndrome patients have brittle bones that break easily from little to no apparent trauma. Severity can range from multiple fractures at a time to mild OI such as experiencing only a few fractures over an entire life time.
Another visible symptom is bluish or greyish tinting in the sclera (whites of the eyes).
This tint appears to to have a faint ring pattern spreading outwards from the iris and appearing in all parts of the sclera. The tint appears darker in people with brown (darker) irises and lighter in people with blue or green irises (more data needed). Another factor affecting the tint's color could be due to how severe the disease is.
In more than 90% of OI, the root cause has been attributed to a lack of type 1 collagen which has been found to result from mutations in COL1A1, COL1A2, CRTAP, and P3H1 genes.
Type 1 collagen deficiency affects connective tissues, such as those found in tendons, ligaments, cartilage bones and skin. In severe cases, impairments in bones and cartilage may show up as short limbed dwarfism, abnormal facial features and multiple fractures even before birth. Deficiency in the eyes could cause myopia and be at risk for retinal detachment.
http://www.eye-exercises-for-good-vision.com/chinese-eye-exercises.html
Mainland Chinese people have (whether intentionally or inadvertently) a simple solution to reduce myopia and other eye problems. It has shown to effectively reduce the need corrective lenses in children, but takes time and the eye massage is done everyday after lunch (the children wash their hands before massaging their eyes). Some think it's a way to massage the pressure points. Others consider stimulation to narrow blood vessels around the eyes as a way to improve circulation as a way to improve eyesight, as the area around the eyes are not a place that is usually massaged.
However, the mechanism for daily eye massages improving eyesight is not yet understood.
Another symptom of OI is hearing loss. Although I had assumed that cochlea deforming would usually occur before birth, this is not the case. Hearing loss tends to show up after 20 years of age, and is present in more than 50% of OI cases after 50 years old.
I'm starting to think that OI symptoms match match age related illnesses for those past 65 years of age, except that these symptoms show up in people who are much younger
Collagen is one of the most common amino acids in the human body, a gene mutation causing collagen deficiency in the skin would additionally result in hyperlaxity (skin being able to move to distort its shape more than usual). Also the joints would experience hypermobility (joints have a wider range of movements, and possibly pop more easily). Hence, stretching could be detrimental and cause injury. A possible treatment would be to use a collagen infused cream at least once every 3 days, and hope that the skin absorbs the collagen.
Perhaps in a sauna, skin pores open up and be more permeable, but the condensation could make the cream drip off before the collagen is absorbed. Maybe a gel type cream or an enclosed gel-steam bath. However, it is unknown if deeper tissues like ligaments and bones could benefit from absorbing the collagen on location.
Ligaments have been treated with sonic treatments (ultrasound) to stimulate collagen repair in joints, but there are risk of contraindications if malignant tumors are present. Another treatment has been to orally take glucosamine for joint pains, especially in the knee.
Double blind tests showed glucosamine to have little more effect than a placebo even though glucosamine is expensive. Maybe if there was a better way to deliver the glucosamine directly on sites where it is needed but whether the body can absorb and incorporate it for tissue repair is uncertain.
Maybe glucosamine could be more effective if combined with ultrasound treatment? (but the among of time needed to sustain absorption could make it unfeasible as a treatment option. Also glucosamine is theoretical, and has not been statistically validated)
Bruises in legs may also occur with little physical trauma or no apparent reason according to the pdf on the OI foundation website:
http://www.oif.org/site/DocServer/_Child_Abuse__Child_Abuse_or_Ostegenesis_Imperfecta.pdf?docID=7189
Growing up, I recall seeing instances of shin and knee bruising in school mates, which may indicate very mild occurrences of collagen deficiency. (Also to note, Singaporean school children, especially boys were whipped as kids, with a switch that looks in the image below, usually 1/4 inch in diameter and 3 feet long. Typically, everyone Singaporean family has one, and it is awarped Chinese tradition that disciplining a child is care, scolding a child is love 打是疼骂是爱, also for some reason, it's in a song http://www.xiami.com/lrc/109459 )
What if part of the reason Asians have a high rate of lactose deficiency ( >90% in east asian countries) is linked to collagen deficiency at a younger age: thereby having skin rashes, fatigue, join pains from weaker joints,... symptoms also seen typically in people past 60 years of age.
Could this also explain the sporadic occurrence of grey hairs among young south east Asian males and a high rate of wearing glasses before the age of 10? If only there was a pool of data available to gene pool vs. incidences of needing corrective lenses vs. occurrence of youths having grey hair in Asian males, especially those of Southern Chinese descent like the Cantonese and Hokkien people. (Youths having grey hairs tend to be male, but it happens with a lower frequency in females)
((grey, or gray))
Treatments:
Current treatments for O.I. are focused on alleviating symptoms and current medical knowledge has not yet reached the level of treatment for root cause of where medical for genetic therapy: where stem cells could replace the autosomal dominant inherited gene flaw. However, it is very possible that either CRISPR or a bacteria vector could deliver a corrective gene for the faulty collagen gene mutations.
Three possible treatments come to mind (bear in mind that this is entirely hypothetical and untested) but if nothing else, the following ideas are good for health in general as well as a refreshing way to wake up and start your day.
1) regular 30 minutes of exercise a day for bone and muscle strengthening, based on the qualitative data about aging reversal (or slowed down aging) Olympic athletes. (however, exercising would be hard to do in severe cases of OI)
2) inducing bradycardia ( https://www.quora.com/Does-splashing-cold-water-on-your-face-really-wake-you-up-by-activating-the-mammalian-diving-reflex ), but like this link says, the effect in humans seems to be very mildly observed. maybe a stronger
3) snow bath after a sauna https://en.wikipedia.org/wiki/Finnish_sauna
If splashing cold water is not enough to induce a large enough effect of bradycardia, surely a snow bath might do the trick (do note the Finnish snow bath comes after a hot sauna).
Source(s):
https://ghr.nlm.nih.gov/condition/osteogenesis-imperfecta
https://www.lahey.org/Departments_and_Locations/Departments/Dermatology/Ebsco_Content/Eczema.aspx?chunkiid=99917
http://www.oif.org/site/PageServer?pagename=AOI_Facts
http://www.oif.org/site/PageServer/PageServer?pagename=IsThis
https://en.wikipedia.org/wiki/Osteogenesis_imperfecta
https://en.wikipedia.org/wiki/Collagen,_type_I,_alpha_1
https://www.sciencedaily.com/releases/2015/12/151222084735.htm
https://www.propublica.org/article/aging-but-not-aged-olympians
http://www.harperwave.com/book/9780062313331/Aging-Backwards-by-Miranda-Esmonde-White/
http://www.sportsinjuryclinic.net/treatments-therapies/electrotherapy/ultrasound-therapy
Glucosamine info/study
http://www.webmd.com/arthritis/tc/glucosamine-and-chondroitin-topic-overview
http://rheumatology.oxfordjournals.org/content/41/3/279.full.pdf
eye exercise statistical study:
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4350838/
Another visible symptom is bluish or greyish tinting in the sclera (whites of the eyes).
This tint appears to to have a faint ring pattern spreading outwards from the iris and appearing in all parts of the sclera. The tint appears darker in people with brown (darker) irises and lighter in people with blue or green irises (more data needed). Another factor affecting the tint's color could be due to how severe the disease is.
In more than 90% of OI, the root cause has been attributed to a lack of type 1 collagen which has been found to result from mutations in COL1A1, COL1A2, CRTAP, and P3H1 genes.
Type 1 collagen deficiency affects connective tissues, such as those found in tendons, ligaments, cartilage bones and skin. In severe cases, impairments in bones and cartilage may show up as short limbed dwarfism, abnormal facial features and multiple fractures even before birth. Deficiency in the eyes could cause myopia and be at risk for retinal detachment.
http://www.eye-exercises-for-good-vision.com/chinese-eye-exercises.html
Mainland Chinese people have (whether intentionally or inadvertently) a simple solution to reduce myopia and other eye problems. It has shown to effectively reduce the need corrective lenses in children, but takes time and the eye massage is done everyday after lunch (the children wash their hands before massaging their eyes). Some think it's a way to massage the pressure points. Others consider stimulation to narrow blood vessels around the eyes as a way to improve circulation as a way to improve eyesight, as the area around the eyes are not a place that is usually massaged.
However, the mechanism for daily eye massages improving eyesight is not yet understood.
Another symptom of OI is hearing loss. Although I had assumed that cochlea deforming would usually occur before birth, this is not the case. Hearing loss tends to show up after 20 years of age, and is present in more than 50% of OI cases after 50 years old.
I'm starting to think that OI symptoms match match age related illnesses for those past 65 years of age, except that these symptoms show up in people who are much younger
Collagen is one of the most common amino acids in the human body, a gene mutation causing collagen deficiency in the skin would additionally result in hyperlaxity (skin being able to move to distort its shape more than usual). Also the joints would experience hypermobility (joints have a wider range of movements, and possibly pop more easily). Hence, stretching could be detrimental and cause injury. A possible treatment would be to use a collagen infused cream at least once every 3 days, and hope that the skin absorbs the collagen.
Perhaps in a sauna, skin pores open up and be more permeable, but the condensation could make the cream drip off before the collagen is absorbed. Maybe a gel type cream or an enclosed gel-steam bath. However, it is unknown if deeper tissues like ligaments and bones could benefit from absorbing the collagen on location.
Ligaments have been treated with sonic treatments (ultrasound) to stimulate collagen repair in joints, but there are risk of contraindications if malignant tumors are present. Another treatment has been to orally take glucosamine for joint pains, especially in the knee.
Double blind tests showed glucosamine to have little more effect than a placebo even though glucosamine is expensive. Maybe if there was a better way to deliver the glucosamine directly on sites where it is needed but whether the body can absorb and incorporate it for tissue repair is uncertain.
Maybe glucosamine could be more effective if combined with ultrasound treatment? (but the among of time needed to sustain absorption could make it unfeasible as a treatment option. Also glucosamine is theoretical, and has not been statistically validated)
Bruises in legs may also occur with little physical trauma or no apparent reason according to the pdf on the OI foundation website:
http://www.oif.org/site/DocServer/_Child_Abuse__Child_Abuse_or_Ostegenesis_Imperfecta.pdf?docID=7189
Growing up, I recall seeing instances of shin and knee bruising in school mates, which may indicate very mild occurrences of collagen deficiency. (Also to note, Singaporean school children, especially boys were whipped as kids, with a switch that looks in the image below, usually 1/4 inch in diameter and 3 feet long. Typically, everyone Singaporean family has one, and it is a
What if part of the reason Asians have a high rate of lactose deficiency ( >90% in east asian countries) is linked to collagen deficiency at a younger age: thereby having skin rashes, fatigue, join pains from weaker joints,... symptoms also seen typically in people past 60 years of age.
Could this also explain the sporadic occurrence of grey hairs among young south east Asian males and a high rate of wearing glasses before the age of 10? If only there was a pool of data available to gene pool vs. incidences of needing corrective lenses vs. occurrence of youths having grey hair in Asian males, especially those of Southern Chinese descent like the Cantonese and Hokkien people. (Youths having grey hairs tend to be male, but it happens with a lower frequency in females)
((grey, or gray))
Treatments:
Current treatments for O.I. are focused on alleviating symptoms and current medical knowledge has not yet reached the level of treatment for root cause of where medical for genetic therapy: where stem cells could replace the autosomal dominant inherited gene flaw. However, it is very possible that either CRISPR or a bacteria vector could deliver a corrective gene for the faulty collagen gene mutations.
Three possible treatments come to mind (bear in mind that this is entirely hypothetical and untested) but if nothing else, the following ideas are good for health in general as well as a refreshing way to wake up and start your day.
1) regular 30 minutes of exercise a day for bone and muscle strengthening, based on the qualitative data about aging reversal (or slowed down aging) Olympic athletes. (however, exercising would be hard to do in severe cases of OI)
2) inducing bradycardia ( https://www.quora.com/Does-splashing-cold-water-on-your-face-really-wake-you-up-by-activating-the-mammalian-diving-reflex ), but like this link says, the effect in humans seems to be very mildly observed. maybe a stronger
3) snow bath after a sauna https://en.wikipedia.org/wiki/Finnish_sauna
If splashing cold water is not enough to induce a large enough effect of bradycardia, surely a snow bath might do the trick (do note the Finnish snow bath comes after a hot sauna).
Source(s):
https://ghr.nlm.nih.gov/condition/osteogenesis-imperfecta
https://www.lahey.org/Departments_and_Locations/Departments/Dermatology/Ebsco_Content/Eczema.aspx?chunkiid=99917
http://www.oif.org/site/PageServer?pagename=AOI_Facts
http://www.oif.org/site/PageServer/PageServer?pagename=IsThis
https://en.wikipedia.org/wiki/Osteogenesis_imperfecta
https://en.wikipedia.org/wiki/Collagen,_type_I,_alpha_1
https://www.sciencedaily.com/releases/2015/12/151222084735.htm
https://www.propublica.org/article/aging-but-not-aged-olympians
http://www.harperwave.com/book/9780062313331/Aging-Backwards-by-Miranda-Esmonde-White/
http://www.sportsinjuryclinic.net/treatments-therapies/electrotherapy/ultrasound-therapy
Glucosamine info/study
http://www.webmd.com/arthritis/tc/glucosamine-and-chondroitin-topic-overview
http://rheumatology.oxfordjournals.org/content/41/3/279.full.pdf
eye exercise statistical study:
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4350838/
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