Posts tagged history
Articles and news from the latest research reports.
First Alzheimer’s case has full diagnosis 106 years later
More than a hundred years after Alois Alzheimer identified Alzheimer’s disease in a patient an analysis of that original patient’s brain has revealed the genetic origin of their condition.
The brain specimen tested was discovered in a university basement late last century after a search by rival teams of academics.
"It is extremely satisfying to place this last piece in the medical puzzle that Auguste Deter, the first ever Alzheimer patient, presented us with,” said Professor Manuel Graeber, from the University of Sydney.
"It is not only of historical interest, however, as it ends any speculation about whether the disease is correctly named after Alois Alzheimer. Alzheimer’s ability to recognise this dementia more than a century ago provides compelling support for specialisation in medicine. Alzheimer was a founding father of neuropathology, an important medical specialty that is still underrepresented."
Professor Graeber, from the University’s Brain and Mind Research Institute, Sydney Medical School and the Faculty of Health Sciences, collaborated with Professor Ulrich Müller’s team from the Institute of Human Genetics of the University of Giessen in Germany to produce the molecular diagnosis recently published in Lancet Neurology.
For years scientists have been wondering whether the first case of Alzheimer’s disease had a genetic cause. In 1901 Auguste Deter, a middle-aged female patient at the Frankfurt Asylum with unusual symptoms, including short-term memory loss, came to the attention of Dr Alzheimer. When she died, Dr Alzheimer examined her brain and described the distinctive damage indicating a form of presenile dementia.
For decades the more than 200 slides that Alzheimer prepared from Deter’s brain were lost. Then in 1992, after Professor Graeber uncovered new information pointing to their location, two teams of medical researchers began a dramatic race to find them.
One team searched in Frankfurt but it was a team headed by Professor Graeber, then working at the Max Planck Institute for Neurobiology that finally located the material at the University of Munich in 1997.
The slides were examined and confirmed beyond doubt that Deter was suffering from Alzheimer’s disease, with large numbers of amyloid plaques and neurofribrillary tangles in the brain that are hallmarks of the disease. Until now a more sophisticated DNA analysis of the small amount of fragile material in single slides has not been possible.
Since their rediscovery, a significant number of brain slides have been under the official custodianship of Professor Graeber who has been at the University of Sydney since 2010. He is preparing a book on the material.
"We found a mutation whose ultimate effect is the formation of amyloid plaques. These plaques, which form between nerve cells and seem to suffocate them are the key diagnostic landmark of the disease."
Alzheimer’s disease represents one of the greatest health problems in industrialised societies today. An estimated 100 million dementia sufferers are predicted worldwide by 2050, the vast majority of whom will have Alzheimer’s disease.
95 percent of Alzheimer’s patients suffer late onset of the illness after they turn 65. Five percent fall ill before that age (early onset) and Auguste Deter belongs to this group.
"We have revealed that Auguste Deter is one of those in which early onset of the disease is caused by mutation in a single gene," said Professor Graeber.
'Alien' Skulls: Deformed Craniums Discovered In 1,000 Year Old Mexican Cemetery
Excavation of an ancient burial site in South Sonora, Mexico, has revealed a series of skeletons with intentionally deformed skulls.
Of the 25 sets of human remains found close to the Mexican village of Onavas, 13 had deformed craniums and five had evidence of dental mutilation.
According to Past Horizons, misshapen skulls have not been recorded before in the Sonora cultural groups, although they are documented among Mesoamerican peoples.
The process of elongating a skull usually begins in childhood with a process called “cradle-boarding”.
Ryan Matthews of Science Channel series Oddities told HuffPost Weird: “They would put two boards around the head and wrap it very securely. Because the head of a child is very soft, it can be manipulated forward, but the process would take several months.”
Brain-Removal Tool Left in Mummy’s Skull
A brain-removal tool used by ancient Egyptian embalmers has been discovered lodged in the skull of a female mummy that dates back around 2,400 years. Removal of the brain was an Egyptian mummification procedure that became popular around 3,500 years ago and remained in use in later periods. Identifying the ancient tools embalmers used for brain removal is difficult, and researchers note this is only the second time that such a tool has been reported within a mummy’s skull.
The discovery
Located between the left parietal bone and the back of the skull, which had been filled with resin, the object was discovered in 2008 through a series of CT scans. Researchers then inserted an endoscope (a thin tube often used for noninvasive medical procedures) into the mummy to get a closer look and ultimately detach it from resin to which it had gotten stuck.
"We cut it with a clamp through the endoscope and then removed it from the skull," said lead researcher Dr. Mislav Čavka, of the University Hospital Dubrava in Zagreb Croatia, in an interview with LiveScience.
They found themselves peering at an object more than 3 inches (8 centimeters) long that would have been used for liquefying and removing the brain. “It almost definitely would have been used in excerebration [brain removal] of the mummy,” Čavka said.
The instrument would have been inserted through a hole punched into the ethmoid bone near the nose. “Some parts [of the brain] would be wrapped around this stick and pulled out, and the other parts would be liquefied,” Čavka said.
The Egyptian mummy could then be put on its abdomen and the liquid drained through the nose hole. “It is an error that [the] embalmers left this stick in the skull,” said Čavka, adding the tool may have broken apart during the procedure.
This embalming accident, unfortunate for the ancient mummy, has provided researchers with a very rare artifact. Čavka’s team point out in a paper they published recently in the journal RSNA RadioGraphics the only other brain-removal stick found inside a mummy’s skull dates back 2,200 years.
New insights
The stick is quite brittle and the team could not do as thorough of an analysis as they’d hoped. Looking at it under a microscope, botanical experts determined the tool is made from plants in the group Monocotyledon, which includes forms of palm and bamboo.
The most curious find came when the researchers compared their discovery with an ancient account of brain removal made by the Greek writer Herodotus in the fifth century B.C. A visitor to Egypt, he had this to say about how Egyptian brain removal worked (as translated by A. D. Godley, Cambridge, Harvard University Press, 1920, through Perseus Digital Library):
"Having agreed on a price, the bearers go away, and the workmen, left alone in their place, embalm the body. If they do this in the most perfect way, they first draw out part of the brain through the nostrils with an iron hook, and inject certain drugs into the rest."
The recent discovery suggests an organic stick, not an “iron hook,” was used in at least some of these procedures, possibly for economic reasons. Researchers note that the tool found in the skull of the other mummy, dating from 2,200 years ago, was also made of an organic material.
Artificial Beginnings: Understanding the Origin of Life by Recreating It
The Origin of Life on Earth was certainly, in retrospect, and from the human vantage point, the most fateful event in the history of the Universe. On a young, tepid Earth chemistry sprung into biology and set course on a four billion year journey that would eventually lead to us. However, all traces of the first, primitive organisms have vanished. They were outcompeted and devoured by their evolutionary descendents, leaving nothing to form fossils. Though we will never be able to set eyes on the first Earthlings, the first pioneers, we can understand what they must have been like through more subtle, indirect approaches. Comparative biochemistry across the whole of life takes us back quite a ways, though not to the first cells. The most recent common ancestor shared by all living organisms—bacteria, plants, animals, fungi, archaea, and unicellular eukaryotes like amoebae—was born long after the first cell ceased to exist. The only way we can truly understand what life must have been like in its earliest days is to create it ourselves.