Wednesday, November 30, 2016

CRISPR and hemophilia

could the CRISPR technique splice in a gene to counteract the missing gene for some types of hemophilia?


Most single-gene diseases, such as hemophilia, are caused by different mutations scattered in a specific gene rather than a single predominant mutation, so the team needed to develop a vector that would be applicable for patients with any mutations. The study is a preclinical proof of concept using a universal CRISPR/Cas9 gene targeting approach that could be applied to majority of the patients with a specific disease, in this case hemophilia B. According to the Centers for Disease Control and Prevention, hemophilia in general occurs in approximately 1 in 5,000 live births and there are about 20,000 people with hemophilia in the United States.

good news if it works out

Wednesday, November 23, 2016

Just ignore the happiness of the children you don't want

David Warren writes that this film has been banned from French TV because it might upset some people...

At the centre of the controversy is that smile — that distinctly Down syndrome smile, more haunting than the smile on the Mona Lisa. To those who happen to have eyes to see, it is in itself a moral, and a mystical revelation. I have dreamt, towards Christmas, of the Child in the manger: surely Jesus smiled upon his mother like that.

he also wrote:

as I know from first hand (my younger son is Down’s), they are an extraordinary gift, to those parents and to any siblings, or others, who are brought into contact with a love, a fidelity, an emotional attentiveness, a kindliness, a joy, an innocence, an orb of communicable experience and perception that enlarges and deepens us.


related item: Pearl Buck and her retarded daughter.

Her daughter had PKU, which now is screened for and the retardation prevented with a strict diet.

when I first studied in medical school, doctors recommended all such children be institutionalized. Thanks to the Kennedy family, that has changed, and most are now cared for at home or in home style care homes.

but Down's syndrome is a chromosomal abnormality (they have an extra chromosome). Some wonder if genetic manipulation like CRISPR could "cure" or treat their deficiencies or other genetic causes of disabilities.

JohnsHopkins article discussion.

Nature also discusses the possibility and the ethics of genetically manipulating children.

one problem is that manipulating genes in embryos or growing fetuses is essentially "experimenting" on someone who cannot give their consent.

For minor things, like beauty genes or high IQ, this would be immoral, because if the experiment didn't work, the embryos would be discarded or left to die.

But the dirty little secret is that in today's world that stresses perfection, that most children with Down's syndrome are aborted. Changing their genes at time of diagnosis might give more mothers the courage to oppose the pressure on them to abort and give their baby a chance to live.


additional note: people with Down's syndrome have higher incidence of some disease like Leukemia and Hypothyroidism, and may develop Alzheimer's disease in middle age. All these things are from immune changes from the chromosome. One reason that in the past (i.e. check out any textbooks from the 1940's) was that they tended to die of infections before they reached puberty. Antibiotics changed this.

there is also an increased chance of certain congenital heart defects. In the 1960's they discussed if these children merited open heart surgery, which at the time was rare and risky. Now few would deny the children such treatment.

I remember one major magazine had an article about a woman whose child had Down's syndrome and heart problems, and was disappointed the child lived. She said she planned to become an activist for euthanizing such children.

Well, she had her wish: Not euthanasia, although Singer and other professional bioethicists would recommend infanticide, and of course, most of the Down's syndrome children are aborted  so no one has to actually confront the face of the child you killed.

But of course, as European progressive nations have proven: Just wait a decade  or two and infanticide and murder of children under the guise of compassion will be promoted.

Sometimes these stories makes one hope that the pro life Muslims will take over the place. .. although as this BBC link suggests, the PC are working on modern "religious" experts to change this.

A similar pro life bias is found among most Africans and AmerIndians, seeing abortion as the same as taking a life, although some tribes do allow early abortion for grave reasons, and of course, taking herbs to bring on one's period is seen as contraception, not abortion.

hence the push for "abortion pills": out of sight, out of mind...

Yet, as the banning of the "SMILE" film suggests, even these mothers remember:

“Can a mother forget the baby at her breast    and have no compassion on the child she has borne?Though she may forget,    I will not forget you!16 See, I have engraved you on the palms of my hands;

But with Down's and genetic abortion, you don' t have that option.

I ran across a comedy about a one night stand with an acquaintance, where the woman got pregnant, and the dude went with her to the doctor's... and they did an ultrasound and saw the beating heart of their tiny old baby...

the dude was speechless and the mother could only cry with mixed emotions.

Nowadays, a blood test will diagnose a lot of Down's syndreme kids early ,so if you want to abort early you can. Of course, the chance of a false positive is there... even if the newest fancy test claims a 0.1% of false positive, you still have lab error, mosaic chromosomes and other problems.

The lab error problems are especially big when testing in populations with a low risk of a problem. LINK

Seattle news article discusses the problem here.

... often after the 16 week ultrasound, where abortion is quite risky and you have to pull out fetal parts to kill the kid. Some delay even longer, hence the use of fetal poison to kill the kid or decompressing the skull of a partially born child (AKA partial birth abortion).

Pearl Buck was told her child would never be normal, so put her into an institution and forget about her. But as the article points out, you never do forget...

Friday, November 18, 2016

latest medical headlines

CDC report on the use of vaccines around the world. For later reading since it is ocmplicated.

the use of DPT vaccines has lagged at 85 percent, and countries with internal wars are especially at risk for not getting their kids vaccinated.

another problem: not all the kids got all their shots, so could get the disease.
The good news is that one shot will give you some immunity and since you are now older and healthier (most of the deaths from DPT and measles and HIB etc are in toddlers) but it will wear off. We saw this with measles vaccine, where we had an epidemic in our high school and not all the younger doctors had ever seen a case.

all the anti vax people in the US seem to think vaccines are a NWO plot to kill people to keep down the population. Actually it is the opposite: It cuts down the number of poor children dying in the third world.

Of course, when the moms realize they no longer have to give birth to 5 kids to make sure they have one or two survive to adulthood, they are willing to use contraception etc. to limit their families.

another note: LATIMES article saying the WHO has called off the Zika emergency.

You know, the "R" in the MMR vaccine is rubella, which causes a lot more brain damage to the fetuse in pregnant women than Zika.

But then I'm old enough to remember the last rubella epidemic in the US, where so many women faced giving birth to a retarded child (and in the UK,, thalidomide cases) that it led to more support for legalized abortion...


CDC reports that if you overdose on immodium, you might get a heart irregularity.

Don't worry about taking one or two for diarrhea however, the dosages are higher here...

. Serum loperamide concentrations were obtained from four patients and ranged from 77–210 ng/mL, representing 25–875 times the therapeutic range of 0.24–3.1 ng/mL (6).

 people use it to get a cheap high, or to decrease withdrawal symptoms from opioids.

we grow organic rice, and it is healthier but the dirty little secret is that if we all ate organic rice grown in the traditional ways, there would be millions of people starving to death.

GM food hysteria kills.

LATIMES has an article on a GM crop that increases the food produced by making photosynthesis more efficient

GM is a technique, that allows the manipulation of crops and animals faster than by breeding/ choosing crops with positive traits.

Like any technique, it is morally neutral, and can be good or bad.

and chimeras with one human gene are not the problem: but too many genes and you could get a scenerio like Cordwainer Smith's underpeople...

Improbable research: Death by selfies.

Saturday, November 12, 2016

Rat fever

nope. Never heard of it in medical school outside a single lecture in animal related disease

Nor did I treat any cases when I worked in Africa (probably because I worked in a  rural area, but also no floods when I worked in Liberia).

Of course, since every fever was given penicillin, I might have cured some cases that never had been diagnosed. But I never saw the liver involvement and severe syndrome either.

The disease is easily treated early with antibiotics; the bad news is that often it is fast, so you wade in water, and then after a few days get a fever (big deal) and then voila the complete syndrome and you die.

 But here in the Philippines, we get deaths after every typhoon, from people wading in ankle deep/knee deep water in the street.

Science Daily has an article about a newer treatment for the severe cases....

While rare in the United States, leptospirosis remains an important health threat for impoverished populations in developing countries, causing more than one million illnesses and 60,000 deaths annually..... 

 The reasons why leptospirosis causes life-threatening manifestations, such as pulmonary hemorrhage and acute kidney failure, have been poorly understood. ...

Patients who died from leptospirosis had a defect in the expression of the gene encoding an antimicrobial peptide, cathelicidin, which is capable of killing bacteria, the researchers found. In contrast, survivors were able to mount a vigorous response to the infection as exemplified by the expression of genes that encode cathelicidin as well as those that play a role in adaptive immunity such as antigen presentation and immunoglobulin production.

e-nurse care plan

Thursday, November 10, 2016

Viking stuff

Did the high incidence of alpha 1 antitrypsin help the Vikings survive the fact that they carried a lot of parasites?

This can cause emphesema and liver disease.

 Last year, Danish scientists studying the remains of a Viking privy found that the ancient Norse and their domestic animals were infested with a variety of intestinal parasites. These parasites release enzymes called proteases that cause disease. The immune system also creates proteases that can cause inflammation and damage, but the body has natural defenses against those, including a molecule called alpha-1-antitrypsin (A1AT).
Because they were more or less constantly infected, Vikings evolved to produce “deviant” forms of A1AT that were specifically useful against worm-related proteases instead of the body’s own.
In the absence of normal A1AT, the immune system’s own proteases are free to damage tissue, including in the lungs and liver. At the time, the benefits of this genetic mutation outweighed the risks. Not so today.

 Science has an article about the lost Viking settlement in Greenland.

The story goes that they were farmers, but when the Little Ice Age came, they kept farming and slowly starved to death because they were just too rigid to learn to hunt seals etc from the local Inuit.

But now some question that since the prescence of seal bones in the garbage heaps suggest they did hunt a lot.

For later reading.

Sunday, November 6, 2016

eating placentas and spirit cooking and the taxidriver rule

My previous blogpost was about yuppies eating placentas because dogs do it, and hey, there are reports that a couple of tribes might have done it once in a while.

But now the latest kerfuffle is about Spirit cooking.

The usual idiots saw a reference to it on an email of John Podesta's brother, and now are claiming Hillary is into devil worship.

Shhes. She's a Pelagian liberal Christian, where her zeal at pushing "good deeds" as a SJW trumps all her bad deeds, like taking 100 thousand dollars a speech at Goldman Sachs.

So what "spirit cooking" are they referring to in the email?

Snopes has the details.

"Spirit Cooking" was an art project Abramovic created in 1996. Although Abramovic's cookbook does reference recipes containing bodily fluids such as semen and breast milk, Abramovic told ArtNews that her home cooking events don't actually feature these items.

so it was a dinner hosted by an artist whose modern performance art uses pig blood and who has published a cookbook using bodily fluids.

Spirit Cooking, Abramovic explained, was a performance she staged at a number of museums around the world in the ‘90s, painting graffiti with pigs’ blood. She also made a limited-edition book, which contains various recipes. That book is in the collection of the Museum of Modern Art in New York, among other places.
and although the book and recipes and bloody art work have nothing to do with Satan, it does have to do with "spirituality".

And the Satanism charge? “Anybody who wants can read my memoirs and find out that [my work] is far away from Satanism,” she said. (The book was just released this week, she noted, and it’s doing well on Amazon.) “My work is really more about spirituality and not anything else,”

not noted: Which spirit is she involved with?

TheOtherMcCain is full of blogposts about the mental twistedness of modern feminism, and the travails of modern feminists who seem to need a psychiatrist, but since I always worked with the poor, I am not familiar with the decadence of modern colleges and since I avoid "feminist ideology" blogs, I will have to take their word for it.

why did I put this on my medical blog? well, it's too R rated for my ordinary blog, and this artist seems to have a mental illness that needs treatment.

Pigs blood can spread disease when eaten in traditional Asian dishes that are undercooked ...

and we had an Ebola Reston epidemic in pigs that did manage to infect a few of those in contact with "pig products"... (who luckily only got a mild flu like illness). it isn't clear from the article if they had just cleaned up the muck,  (finger/feces route) had contact with blood or lung tissue during butchering, or had inhaled the virus from the muck or animal, which would be a more dangerous scenerio (airborn Ebola Reston was noted in monkeys in the book the Hot Zone).

lbut pig carry other diseases: Trichinosis from eating uncooked meat is the most famous but I ran across one article stating that a lot of AmerIndians died from after DeSoto went through what is now the Southern USA, and a lot of epidemiologists blame it on the fact that the Spanish traveled with pigs as a source of fresh meat, and they spread infectious disease, either Hepatitis or swine flu.

None of these diseases would be a danger to those who view the creations of this artist, although she might be at risk.

And ditto for "bodily fluids". Does she wear gloves and take precautions as per OSCA regulations? Uh, Zika and HIV and various forms of hepatitis are spread via body fluids for example.

However, what is this about bodily fluids in her recipes? This seems to be done out of sheer desire for being yucky... a sign of decadence, to shock. It is only art because modern art has morphed into a way to shock ordinary people.

So about once a year we read about modern art work being thrown out in the trash by a clueless janitor who thinks it is trash.

In psychiatry, we were told of a "Taxidriver rule": if an average taxi driver thought that the person's behavior or ideas sounded crazy, then maybe they were crazy.

Sounds like some of Hillary's close associates hung out with such a crazy person, and didn't recognize they were crazy, what does that say of her ability to pick staff?

Saturday, November 5, 2016

fake science fad found phfishy

Science Daily:

No, you don't get a lot of iron if you eat your placenta.

no, this is not something I had run across in my cross cultural experience: I have no doubt that there is a tribe somewhere that does this, (Wikipedia article) but I haven't worked with any of the tribes mentioned, and indeed, it is hard from the Wikipedia article to tell if this was a common practice or just sometimes done.

 In Africa, one of the important jobs of the midwife was to bury the placenta, so it would not be eaten by dogs or hyenas (and would not be unearthed and used for witchcraft spells).

so guess what? It is a fad of the affluent.

Placentophagy is an increasingly popular trend in industrialized countries throughout Europe, in Australia and in the U.S.. Proponents of the practice often reference placentophagy's common occurrence among nearly all mammals in nature, and they suggest it offers numerous benefits to human mothers too, including increased energy, improved mood, and more rapid postpartum recovery.
YUM! Chocolate covered Placentas!

not noted: The reason that animals eat the placenta is to keep the nest clean of odors. They also eat their babies' feces and probably their urine because they lick those areas to encourage the small ones to do their thing.

I should also note that our dogs eat their dead babies too, if they are stillborn. Once I had to remove one from our dog Sophie/s throat because she couldn't swallow it.

Fart Fire

There is a story going around the internet where a woman receiving laser surgery for a cervical lesion farted (not unusual by the way) and caused a fire.

Was this real, or just made up for the internet?

My first question was if the laser was properly grounded, so it wouldn't cause sparks. I have heard of cautery fires from the alcohol used to clean the skin area, or (in the good old days) from ether explosions.

In the good old days, we wore special "surgical shoes" that had a metal spike in the sole of the shoe... the inside of the shoe was constructed to collect static electricity from the body (from your clothing rubbing on itself when you walked)... in those days, the surgical gowns were all cotton cloth.

Later, plastic disposable shoe covers were used, with a strip that went across the bottom of the shoe and then went into a ribbon that you put inside your shoe. This was a big help, since it was often hard to clean all the blood off of the leather shoes, and although this was before the days of HIV, blood was a protein that could grow germs so it was an infectious hazard.

They also switched to disposable gowns and hats about that time (1970).

I have no practice with lasers, but Improbable research has a report on an experiment to check if the story could be true.

read the whole thing...

and check out their videos.

one tiny error in the experiment: Smoke is particulate matter, so has a different dispersal pattern than gases. (i.e. the methane and hydrogen sulfite gases in farts).

They also equated the slow emission of smoke from a tube as the same as the (usually fast) emission of gas that would have taken place in this scenerio. However, since methane is lighter than air, the possibility that it went upward into the surgical field is quite probable.