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The answer? The protein in CJD, Mad Cow etc. is “PrP” (Prion Protein); PrP SC => scrapie; PrP...
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Transcript of The answer? The protein in CJD, Mad Cow etc. is “PrP” (Prion Protein); PrP SC => scrapie; PrP...
The answer?
The protein in CJD, Mad Cow etc. is “PrP” (Prion Protein); PrPSC => scrapie; PrPCJD => CJD
Stanley Pruisner
Nobel Prize in 1997 "for his discovery of Prions - a new biological principle of infection"
Prions (Proteinaceous infectious bodies)
ALS – sometimes an “expanded repeat”, sometimes a prion
Hexanucleotide (6 DNA nucleotide) repeat in C90RF72 gene
Mutation in TARDBP gene causing a prion
Autism – Autism Spectrum Disorders (ASD) Not a unitary disease: it’s not “Rain Man” or “normal”
Actually a “multi-dimensional space” not just than a 2-dimensional spectrum Social deficits Communication deficits Repetitive, stereotyped behaviors
The term autism first introduced in 1943, awareness has increased greatly in the last decade or two
“Asperger’s” no longer in DSM – instead diagnosis on a spectrum
Usually diagnosed around 4 years of age, although can be diagnosed at 2
Autism is not caused by “refrigerator mothers” as espoused by Bettelheim
There is no evidence of a connection between vaccines and autismBruno Bettleheim
Vaccines are not the cause of autism
VACCINES DO NOT INCREASE THE ODDS OF DEVELOPING AUTISM REALLY! This possibility has been as thoroughly investigated as anything in
medicine, and there is absolutely no evidence to support a connection…
...at least no credible, good, scientific evidence. There is highly suspect/verifiably fraudulent evidence:
Andrew Wakeflield (formerly MD, license revoked) This is NOT a viable hypothesis; it is no more valid than invoking
birthday cake or airplane travel as a cause of autism.
Brain connectivity may be different as early as 3 monthswith a different difference by 12 months!
3 months of age:
6 months of age:
9 months of age:
12 months of age:
: Low-risk for autism controls: High risk for autism children
Autism Spectrum Disorders Prognosis
Persists throughout life
For many, symptoms improve with treatment and age
Children whose language skills regress early in life, usually before the age of 3, appear to be at risk of developing epilepsy
During adolescence, some children with autism may become depressed or experience behavioral problems.
People with an ASD usually continue to need services and support, but many are able to work successfully and live independently or within a supportive
Autism Treatment
There is no known “cure” for autism
Therapies and behavioral interventions designed to remedy specific symptoms in that individual can bring about substantial improvement.
Treatment options include educational/behavioral interventions, medications, and family education.
Most professionals agree that the earlier the intervention, the better.
There are many unproven and even disproven interventions “Facilitated communication”
Facilitated Communication
A trained helper gently touches or supports the patient’s hand, supposedly
facilitating their ability to communicate via a keyboard or pointing device.
There were early doubters, but much theoretical defense.
Families reported great success – finally getting some communication, seeing unsuspected abilities (e.g., poetry), surprising insights and revelations…
…inicluding essages obtained via FC alleging sexual abuse
Resulting in divorces, imprisonments
Investigations in one case in particular revealed serious doubts about the veracity of the messages being typed.
“Facilitated” “Communication” ?!
Scientific investigation had consistently found it to be flawed.
As early at 1991, scientific studies had discredited it. Defenders of FC claimed that:
It was inappropriate to subject patients to testing, That stress interfered with it’s efficacy Doubters were “squashing hope”, etc.
From a 2014 review of the field:
“Results indicated unequivocal evidence for facilitator control: messages generated through FC are authored by the facilitators rather than the individuals with disabilities. Hence, FC is a technique that has no validity.”
And yet…it persists!?....e.g., ”Supported Typing”
Schizophrenia
In 1911, Eugen Bleuler, first used the word "schizophrenia”, which comes from the Greek words meaning "split" and "mind," but people with schizophrenia do not have split personalities - they have a split from reality.
“Positive Symptoms”: delusions, disordered thoughts and speech, and tactile, auditory, visual, olfactory and gustatory hallucinations, typically regarded as manifestations of psychosis.
“Negative Symptoms”: "Flat affect“, lack of pleasure in everyday life, lack of ability to begin and sustain planned activities, speaking little, even when forced to interact.
Cognitive Symptoms: Poor "executive functioning“, trouble focusing or paying attention, problems with "working memory"
Schizophrenia - Continued
The illness occurs in 1 percent of the general population, but it occurs in 10 percent of people who have a first-degree relative with the disorder, such as a parent, brother, or sister.
Fluid-filled cavities at the center of the brain, called ventricles, are larger in some people with schizophrenia. The brains of people with the illness also tend to have less gray matter,
Scientists found small changes in the distribution or characteristics of brain cells that likely occurred before birth. Some experts think problems during brain development before birth may lead to faulty connections. The problem may not show up in a person until puberty.
Brain differences in schizoprenia
Compared with healthy controls, schizophrenics had reductions in total brain, gray matter, and white matter volumes, and significant increases in ventricle volumes after
There were no significant differences in brain volume between unaffected siblings and healthy controls.
Schizophrenia patients also showed cortical thinning compared with healthy controls, and had decreased gray matter density.
Schizophrenia
Early intervention and early use of new medications lead to better medical outcomes for the individual
The earlier someone with schizophrenia is diagnosed and stabilized on treatment, the better the long-term prognosis for their illness
Teen suicide is a growing problem -- and teens with schizophrenia have approximately a 50% risk of attempted suicide
In rare instances, children as young as five can develop schizophrenia.
Neurological & Psychiatric Disorders Have Had a “Bad Rap”
Diagnosing brain disorders is complicated: diagnosis is based on subjective symptoms rather than objective measures (unlike diabetes, hypertension etc.)
Pain, depression, sleep problems etc. can look the same, but have different causes Cases can have unique presentations and not fall into clear, consistent categories This also makes choosing how to treat difficult
The brain is a part of your body, like bones, pancreas, eye lenses etc. Mental disorders are physical problems, like osteoarthritis, cataracts, diabetes etc.
Lack of “will power” and “character” are not the cause of brain disorders
The stigmatization of mental disorders is illogical, ignorant and cruel
Brain Disorders - Comments
At least a 1/3 of the ~20,000 different genes in the human genome are active primarily in the brain. This is the highest proportion of genes expressed in any part of the body. There are many, many ways things can “go awry” in the brain
“Nature” and “nurture” are significant factors in all disorders.
Increasing interest in role of diet (e.g., gluten) and gut microbes (e.g., in autism)
Brain disorders are often diagnosed by symptoms rather than underlying cause This makes diagnosis and choosing how to treat difficult Depression, sleep problems, memory loss, etc. can look the same, but have different causes Cases can have unique presentations and not fit clear, exclusive disease categories
There is a huge unmet medical need in neuro/psych disorders Donate time or money, or volunteer for studies for which you are eligible
Neurological & Psychiatric Disorders Have Had a “Bad Rap”
The brain is a part of your body, like eye lens, bones, prostate, etc. Mental Disorders are physical problems, like cataracts, diabetes etc.
Lack of “will power” or “character” are not the cause of brain disorders Nor of cataracts, or osteoporosis, prostate cancer, etc.
The stigmatization of mental disorders is illogical, ignorant, and callous Any one of us could develop a brain disorder tomorrow