Hermansky-Pudlak Syndrome genetics

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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/

Genes Implicated in Crohn Disease

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ATG16L1
HLA-DRB1
IL10
IL12B
IL23R
IRGM
JAK2
LRRK2
MUC2
NOD2
SLC22A4
SLC22A5
STAT3
TYK2

Just in: SLC11A1, TPMT, ADAM17, FGFR1OP, HP and LACC1

It is becoming difficult to defend the notion that there is one Crohn Disease in the Irritable Bowel Syndromes (note the plural) category. Not that it matters much, but it seems likely that someone will venture a cladistics-like organization for this area – presumably based on what effects the various mutations have. Note that the MUC2 gene can have varying numbers of trinucleotide repeats – a very peculiar situation (and when it comes to human genetics that is saying a lot)

 

Tracking Pain

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SportsSleeve_BlueSilks_SmartWatch

Starting from an observation that temperature sensors may provide indications of pain, we focused on arms. In fact, mostly forearms. There has been quite a lively international discussion – hampered, as usual, by time-zones and languages – about where to locate the temperature sensors. Then there are the logistics of which sensors, inside or outside of the material (shown here a sports armsleeve from Suddora) and how the clothing holding the sensors can be laundered. Given the history of hardware, it is imprudent not to expect the sensors will need to be replaced.

Encephalitis and Qigong (continued)

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An hour or two after dinner and an hour before going to sleep

  1. Formal bow
  2. Formal salute
  3. Tai Chi Ruler exercises
  4. Yi Jin Jing (tendon or marrow washing) Qigong exercises
  5. any individual homework
  6. Formal salute
  7. Formal bow

If you can – a pillow between the knees; sleep on your right side (less weight on the heart); head supported so the neck is relaxed; comfortable feet (not cold).

Encephalitis and Qigong (continued)

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After the Ba Bao Zhou breakfast brush teeth.

Then our normal daily protocol as if one were in class:

  1. formal bow
  2. formal salute
  3. WuJi style sitting meditation – a few minutes
  4. WuJi style standing meditation – a few minutes
  5. Chen family style traditional warm-up exercises
  6. 18 movements form (after Grandmaster Chen Zhenglei) – the objective is to be able to do this form twice. After that, the next stage is Lao Jia
  7. water break if desired: warmish water in the winter; coolish water in the summer
  8. Eight Brocades Qigong
  9. Silk reeling exercises to cool down
  10. formal salute
  11. formal bow
  12. record any pain using our HERON software
  13. Shaobing snack
  14. brush teeth again

Encephalitis and Qigong (continued)

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The second food is Shaobing (北京燒餅),  also written shao bing or sao bing which is a type of baked, unleavened, layered flatbread. It is to be consumed after the exercises and CHEWED THOROUGHLY. Okay to drink water (warm or cool) or a tea with it. For those who are not tolerant of lactose (dairy) and prefer to avoid caffeine either plain water, an herbal tea or soy milk will work. Temperature should vary with the season – warmish in the winter and coolish in the summer.  in Chinese cuisine. Shaobing can be made with or without stuffing, and with or without sesame on top. The individual recommendation was with both black and white sesame on top and a stuffing of stir-fried mung beans with egg and tofu. Note that stuffings are usually grouped into savory or sweet. Some other stuffings are red bean paste, black sesame paste, braised beef, smoked meat, beef or pork with spices.

Shaobing_Eggs

In order to (slightly) slow down consumption it is fine to cut the Shaobing into bite-sized portions. Note that for the gluten sensitive – one need not use wheat flour. Cooking your own is pretty time-consuming – here’s the recipe.

Shao Bing Dough

  • 1 cup cold water
  • 1 tablespoon olive oil
  • 1 tablespoon sugar (or your equivalent)
  • 1/2 tablespoon yeast
  • 1/2 tablespoon baking powder
  • 1 1/2 cups all purpose flour (or a flour you prefer)
  • 1 1/2 cups white whole wheat flour (ditto)

Shao Bing Topping

  • 1 egg white (some prefer 2 teaspoons of honey) 
  • 1 teaspoon water
  • 1/2 cup raw sesame seeds (the recommendation was mixed black and white)

Instructions

Shao Bing Dough

  1. Place all ingredients except for the flours in a large mixing bowl. Stir well to dissolve sugar. Add the flours, alternately, in 1/2 cup portions. Mix and knead well until a soft firm dough forms. Cover and let rise for about 2 hours.

Shao Bing Topping

  1. Gently beat egg white and mix with water to thin. Alternatively, mix honey and water together. Place sesame seeds in a shallow bowl or on a plate.

Shaping Shao Bing

  1. Cut dough in half. Roll one half into a rectangle, about 12″x14″. Starting with the long end, roll the dough up tightly, jelly-roll style. Seal edges together by pinching dough together along length of dough (use water if necessary). Cut dough into 1 1/2″ pieces. Pinch the open ends together tightly. Place dough in palm of your hand with with cut edges facing out (you want the dough layers to lay horizontally). Mold dough into round circle and roll between the palms of your hand. Press circle flat to about 2 1/2″ in diameter and 1/4″ thick. The shape is not significant – the more rectangular one shown in the picture is fine
  2. Brush tops of each circle lightly with egg wash and press gently in sesame seeds to coat one side.
  3. Set aside and let rise for 30 minutes.
  4. Heat heavy skillet over medium heat. Place biscuits with sesame seed side down. Cover and pan bake for 6 minutes. Turn biscuits over and reduce heat to medium low. Continue to pan bake for 3 minutes. Shao Bing should be slightly browned on both sides. Alternatively, you can bake the Shao Bing in a preheated oven set at 375 degrees with the sesame seed side down for 10 minutes; then turn biscuits over and bake another 5 minutes.

Encephalitis and Qigong (continued)

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Well, this discussion turned out to be a lot more complicated than I expected. The diagnoses from a local (to the patient) doctor of Traditional Chinese Medicine were relayed to China. It seems that there are three sets of recommendations that vary with the various statuses: (1) having an episode of encephalitis (2) recovering from an episode of encephalitis (3) trying to prevent yet another episode of encephalitis. I have asked for clarification on how one knows the difference between the three statuses. There were two interesting diet recommendations:

Ba Bao Zhou (Eight Treasures Sweet rice porridge) – for breakfast. okay to make the night before

3 cups wild rice – I am not exactly sure what this means. American wild rice is not rice
1/4 cup long grain sticky rice (or glutinous rice)
1/8 cup barley
1/8 cup red beans
1/8 cup red dates
1/4 cup dried lotus seeds
1/8 cup mung beans
1/8 cup dried longan
2 cups of water
* (optional) rock sugar

Soak all ingredients in water overnight (except for the longan). Then combine all ingredients, bring to a boil, then simmer on a gentle boil for about 1 hour (adding water as necessary), and adding rock sugar to taste. After 1 hour, turn off heat, leave covered for another hour. Serve. EAT SLOWLY

BaBaoZhou.jpg

more coming

Encephalitis and Qigong

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Two parents and their child e-wrote to say that some years ago the child, then a young teenager, had had autoimmune encephalitis. He could have died or been permanently damaged, but an alert neurologist (the only one out of five doctors consulted who nailed it) ordered an electroencephalogram. The results there pointed to a treatment of infused antibodies that can quell autoimmune attacks. The results were profound, positive and happened within hours.  End of story – and everyone lived happily ever after.

Uhh, not quite.

A major relapse a year and a half after the initial recovery. Four more major relapses after that, two of which required months-long hospital stays. No indication yet of which antibodies are causing the chaos.

Was there anything Tai Chi Chuan, the tai chi tools or Qigong could do?

First of all, encephalitis is a generic term: there are many kinds and there are only a few instances of genes directly causing encephalitis. However, there’s a fair amount of speculation that some combination of an external trigger and a problem with the various construction or destruction pathways for antibodies could be at the base of a lot of conditions. Among the causes of some types of encephalitis are measles, mumps, herpes simplex viruses, Epstein-Barr virus, and arboviruses. The last includes yellow fever, dengue, West Nile encephalitis, Japanese encephalitis, tick-borne encephalitis, Rift Valley fever, Zika and Chikingunya. That’s a real collection of sweeties. There are at least another 20 types of arboviral encephalitis – most of which either do not attack humans (yet) or are very rare. The first eight are more than enough.

Hmm. No clear cause, nothing stands out in the DNA and we are racing the clock against episode seven.

Stay tuned.