Sunday, January 26, 2020
Development of Parkinsons Disease Research
Development of Parkinsons Disease Research The Descendants In the spring of 1988, neurologist Larry Golbe at the Robert Wood Johnson Medical School in New Jersey conducted a routine examination of a 48-year-old man David. David was diagnosed with PD ten years earlier. A few weeks after the meeting, David died. After the funeral, Davids brother Frank came to see Golbe, as he was concerned that he also might have PD. After giving Frank a full examination, Golbe confirmed that he had the disease, and started a broad family study to search for any other relatives who might have contracted PD. During his examination, Frank told him the family originated in Contursi, a small village in Italy. Several months after Franks visit, Golbe got a visit from a woman with classic symptoms of PD. After Golbe had examined her, he wondered whether there might be something wrong apart from the PD. The patient, Joyce, told him she was of Italian descent, from a small village called Contursi. Golbe immediately made the connection between David and Joyce. He called his senior colleague Roger Duvoisin, and together they embarked on a complex task of medical detection. A year later, Larry Golbe went to Contursi, Italy to meet with Dr. Salvatore La Sala and his Italian collaborator, the neurologist Giuseppe Di Iorio. They plotted the family tree on a huge chart and found that David and Joyce were seventh cousins. They were two of 574 descendants of a couple who married around 1700. The remarkable finding was that 61 of the recent descendants had developed PD, and that descendants had a 50 percent chance of inheriting the bad gene. Golbe and his team collected blood samples from members of the kindred to take them to New Jersey for DNA analysis. Such analysis might identify the specific genetic mutation and provide clues as to how it caused PD to develop. In the years ahead Duvoisins team failed to capitalize on its discovery because they lacked the specialized skills needed to find the gene. On August 28, 1995, the National Institute of Neurological Disorders and Stroke (NINDS) held a special workshop about PD. The NINDS director, Zach Hall, had asked Roger Duvoisin to present a progress report on the Contursi kindred. It had now been seven years since they had completed the family pedigree, and people were becoming impatient at the lack of progress. After the meeting, Hall asked Bob Nussbaum, a 46-year-old geneticist from the NIH, if he would be interested in mapping and sequencing the gene. Nussbaum was enthusiastic about the idea and suggested that he worked with his colleague Mihael Polymeropoulos. The geneticists used a process called linkage analysis to locate the gene. By taking blood samples from large numbers of both affected and healthy members of the Contursi kindred, geneticists can pinpoint the gene to a small region of the genome. Within nine days, Polymeropoulos and Nussbaum found the gene in a small region (band 21) of the long arm (q) of chromosome 4. The genetic zip code is 4q21. It took another nine months before they located the precise address within the zip code and sequenced the mutated gene. They checked the sequence against GenBank and found a hit. The mutated gene was called SNCA, which coded for a brain protein called alpha-synuclein. A single base change in the genes code produced a mutant form of the protein, which caused affected individuals to contract PD. Maria Grazia Spillantini, an Italian Alzheimers researcher working in England, had developed special staining techniques to visualize alpha-synclein in brain tissues. On a hunch, she used the stain to search for alpha-synuclein in brain specimens of deceased PD patients. Even though these patients lacked the Contursi mutation, she found lots of alpha-synuclein. She found it in Lewy bodies. As you recall, Lewy bodies are found inside the brain tissues of PD patients. In 1997 no one knew what Lewy bodies were made of. Spillantini had found the answer: they are made of alpha-synuclein. Heiko Braak, the legendary neuoanatomist at Goethe University in Frankfurt, was inspired by the discovery that Lewy bodies were made of alpha-synuclein. He embarked on a massive PD project. Using alpha-synuclein staining, Braak looked for Lewy pathology, and he hunted not only in the brain but in the rest of the body. He found that the location of Lewy pathology appeared to change as the disease progressed. Braak argued that this was compelling evidence that PD started perhaps decades before any tremor or rigidity appeared. He suggested that the disease was possibly triggered by an infection in the gut and/or nose and spread throughout the brain in six anatomical stages that mapped into the pattern of symptoms found in epidemiological studies like the Honolulu-Asia Aging Study. Stage 1: loss of smell and constipation Stage 2: REM sleep behavior disorder Stage 3: Classic PD tremor, rigidity, slowness of movement Stage 4: Loss of balance Stages 5 and 6: dementia (when the pathology spreads to the forebrain and the neocortex) Since the 1997 discovery of the alpha-synuclein mutation, some eighteen potential genetic forms of PD turned up. In 2003, a group of Mayo Clinic and NIH geneticists announced a discovery of another family kindred with an inherited form of PD. The team of geneticists had been hunting for the gene since the mid-1990s. First they looked for gene mutations but found nothing. Eventually they discovered that the Iowa kindred PD wasnt caused by a point mutation of the gene. They found that affected members of the kindred had extra copies of the normal alpha-synuclein gene on chromosome 4. That means more alpha-synuclein protein is being pumped into the affected individuals bodies. This discovery showed that you didnt need a mutation to get PD, too much alpha-synuclein can cause PD. The discoveries attracted the attention of the Cambridge Professor Chris Dobson. Four decades of research had convinced Dobson that proteins were implicated in a range of diseases from inherited diseases like cystic fibrosis to neurodegenerative conditions like PD and Alzheimers. He speculated that because many diseases appeared to be connected with misbehaving proteins, one day it might be possible to block several of these diseases with a single drug. Key Takeaways In 1997, Larry Golbe discovered the Contursi kindred with an inherited form of PD. Mihael Polymeropoulos and Bob Nussbaum pinpointed the mutated gene to a gene called SNCA, which coded for a brain protein called alpha-synuclein. Maria Grazia Spillantini discovered that Lewy bodies are made of alpha-synuclein, demonstrating the critical role of alpha-synuclein in PD. Heiko Braak classified the pathology of PD into six stages, depending on the pattern of Lewy bodies found in the PD patient. In 2003, a group of Mayo Clinic and NIH geneticists discovered another family kindred with an inherited form of PD. The gene is not a mutation of the alpha-synuclein gene. The affected individual has extra copies of the gene in their chromosomes. This discovery showed that you didnt need a mutation to get PD, too much alpha-synuclein can cause PD. The field is now poised to test a series of exciting agents designed to stop the spread of this rogue protein in our bodies and brains.
Saturday, January 18, 2020
Infant Motor Developm
Infant Motor DevelopmentI.  First MonthA.   can already raise its head for a momentB.    twists its head from side to side when lying on rearC.    hands remain grittedD.   has already a sturdy clutch reflexE.    stares and goes after object moving ahead of him/her (range of 45 degrees)F.     performs husky soundsG.   gazes closely at parents when they speak to him/herII.               Second MonthA.   raises its head about 45 degrees when resting on stomachB.    head nods forward when grasp in sitting positionC.    clutch reflex declinesD.   goes after hanging objects with eyesE.    makes smilesIII.            Third MonthA.   begins to stand partial load on both legs when clutched in a standing positionB.    able to grasp head up when sitting but still nods frontwardC.    can lift head and shoulders when resting on stomach (amid 45 and 90 degrees)D.   stands load on forearmsE.    grasps objects but does not get in touch with themF.     grasps own hands and drags at bedspreads and clothesG.   goes after object (180 degrees)H.   makes more soundsI.      smiles when sees recognizable features.IV. Fourth MonthA.   has already a fine head controlB.    sits with helpC.    stands some load on legs when clutched erectD.   lifts head and chest off plane (90 degree angle)E.    turns from back to sideF.     discovers and plays with handsG.   attempts to get in touch with but missesH.   clutches objects with two handsV.  Fifth MonthA.  sign of teething startsB.  grasps head up when sittingC.  turns from abdomen to rearD.  p laces feet to mouth when resting on rearE.   freely holds objects and gets objects openly to mouthVI. Sixth MonthA.   starts to masticate and nibbleB.    raises head when dragged to a sitting positionC.    turns form rear to abdomenD.   holds and manages small objectsE.    clutches bottleF.     seizes feet and drags to mouthG.   bends body to make out an objectH.   twists head from side to side and then stares up or downVII. Seventh MonthA.  learns to sit without help (may bend forwards on two hands)B.  stands full load on feetC.  springs when grasped in standing positionD.  shifts objects from one hand to anotherE.  hits objects on planesF.   and able to grip on small objectsVIII.   Eight MonthA.  sits fine without helpB.   stands load on legs and may rest holding on to fixturesC.   lifts out up objects by index, fourth, and fifth fi nger alongside thumbD.   able to discharge objectsE.   drags cords to get objectsF.   seeks for objects that are farIX.  Ninth MonthA.   starts swarmingB.    drags up to standing position from sittingC.   sits for extended time (at most 10 minutes)D.  employs thumb and index finger to lift up objectsE.   places arms ahead of face to shun having it washedX.  Tenth MonthA.  goes from abdomen to sitting positionB.  sits by rundownC.  recuperates balance effortlessly while sittingD.  raises one foot to make a step while standingE.   wields byeF.   recurs actions that draw attentionXI.  Eleventh MonthA.   learns to stroll gripping on to fixtures or other objectsB.    puts one object following another into a potC.    returns back to lift up an object while sittingD.   able to control objects out of stretched fitting placesE.    turns a ball when requested, and quakes head for rebuffXII.  Twelfth MonthA.   strolls with one hand graspB.    bears and tries first steps unaidedC.    rests from standing position aloneD.   tries to construct two chunk towers but may fall shortE.    goes after fast moving objectsF.     grips to parents in odd circumstancesG.   seeks object where it was previously seenReferences:Piek, J. P. (2006). Infant Motor Development. Human Kinetics Publishers.Gallahue, D. L. (2006). Understanding Motor Development: Infants, Children, Adolescents,      Adults. McGraw-Hill Companies.
Friday, January 10, 2020
One Foot in Eden Essay
It is impossible to go through life without making any. What we choose can define us, can close off a part of our life that, had we chosen differently, could have led to something completely different. Many things can influence our choices, from morals, to peers, to experience. Usually, it is our own morals and opinions that decide what we do. How we were raised, what we were taught, and what we have picked up along the way. Family plays a large part in our decisions. Many people think about what someone in their family would do when faced with a difficult decision. In One Foot in Eden, Amy weighs the pros and cons of sleeping with Holland to get pregnant. She carefully thinks about what her husband would do if he found out. This may be a bad example, as she decides to sleep with him anyways. Also, simple things that we learn in school allow us to make informative judgments. Peers also play a significant role. It is almost human nature to please others, or to fit in. Something we would not normally do, we do to make others like us. We might also refrain from acting a certain way that might prevent others from accepting us. This is why it is common that teens begin smoking, or doing some other dangerous habit, all to â€Å"be cool. †Our experiences shape many of our choices. If we know from experience that we will get a bad or painful response to an action, we avoid that action. We will also repeatedly make choices that produce a good or pleasant effect. We face many obstacles by trial and error, and if we have done something before, we know what actions elicit what responses. In conclusion, our choices, whether they are made from our experiences, our peers, or our morals, immensely affect our lives. The factors that influence our choices, be they good or bad, are directly related to the outcome of those decisions.
Thursday, January 2, 2020
What Is Post Traumatic Stress Disorder - 2151 Words
Augusto Gutierrez ENGLISH 1303 Instructor Zachary Turpin October 20, 2014 What is Post Traumatic Stress (PTS)? What are the effects and why should it not be considered a disorder? What is Post traumatic Stress Disorder or more commonly known as PTSD? It is unfortunately an affliction that has been generalized to a veteran issue as a negative side effect of enlistment and deployment to Iraq or Afghanistan, it is the â€Å"Agent Orange†of my generation. If you are unaware â€Å"Agent Orange†was a chemical that the military used in Vietnam as a chemical defoliant to ensure leaves would fall of the plants effectively removing forms of cover the Viet Cong troops used, as well as crops that were given in support of them. It has now been linked to causing various types of cancers and other medical issues not previously expected, this of course added more stigma to plague veterans of a long hated war. The biggest difference between Vietnam and now is that we are a volunteer force not like Vietnam which was a draft opposed by many, which has led to an apathy to fall on the American public. The origins of this affliction older than many realize as it dates back to the Bronze Age, Greek historian Herodotus wrote his account at the battle of Marathon 490 B.C.E. about an Athenian soldier who became blind â€Å"without blow of sword or dart†. In another account that he mentions was that the Spartan commander Leonidas would dismiss soldiers who â€Å"had no heart for the fight and were unwilling to takeShow MoreRelatedWhat Is Post Traumatic Stress Disorder?977 Words  | 4 PagesWHAT IS POST-TRAUMATIC STRESS DISORDER? What is post-traumatic stress disorder? Dr. Shira Maguen defines it as an anxiety disorder that may develop after an individual is exposed to one or more traumatic events.(Maguen 2008). In war situations military service members are exposed to many potential traumatic events. 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