středa 27. listopadu 2013

Duplicata incompleta with caudal regression syndrome
Othman A. R. M. Al-Asali, MD., Amal Taha, MD.
Al-Hammadi Hospital, Riyadh, Saudi Arabia.
Case report
This is a case of a 36-year-old G1 P0 who was treated for infertility for the past 16 years. This was her first pregnancy after in vitro-fertilization. It was a twin pregnancy after a transfer of two embryos.
Patient went into a preterm labor and delivered at 31 weeks of gestation. The first baby was a healthy boy of 1800 grams with Apgar scores 6/7/7 (1st/5th/10th minute).
The second baby had multiple malformations. The head showed signs of duplication with 2 pairs of eyes, double chin, wide mouth. The lower extremities were malformed with caudal regression syndrome. Our final diagnosis based on the clinical findings was duplicata incompleta; monocephalus diprosopus tetraophtalmos (“Diprosopus” means “two-faced” in Greek), so called monocephalic diprosopus.
Images 1,2: Image 1 shows the face, eyes and mouth (arrow). Image 2 shows an axial view of the head.
 
Images 3,4: Image 3 shows a parasagittal view of the spine, head is on the right. Image 4 shows the femur bone.


Images 5,6: Axial view of the all 4 eyes (*).   
  
Images 7,8: Images of the 2nd twin after delivery, note the malformed head with 4 eyes, double chin, wide mouth, no apparent nose.


Images 9,10
: Note malformed lower extremitites resmbling caudal regression syndrome.
 

pondělí 28. října 2013

Questions for mother who kept 'secret baby' in car boot for over a year

Questions over how a two-year old baby girl could have been kept hidden from birth in the boot of her parents’ car in southwestern France in a case that has shocked the country

Questions over how a two-year old baby girl could have been kept hidden from birth in the boot of her parents’ car in southwestern France in a case that has shocked the country
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The couple are escorted by police into court in in Brive-La-Gaillarde Photo: AFP
A baby girl was forced to live hidden in the boot of her parents’ car for almost two years in a case that has appalled France and that investigators say “defies the imagination”.
Neighbours and the media today questioned how the tiny child could have been hidden undetected for so long.
Mechanics carrying out repairs on a Peugeot 307 family estate car in Terrasson-Lavilledieu in the Dordogne were alerted to the child’s presence after hearing “strange noises that sounded like moans” coming from the rear of the vehicle.
The mother, 45, a Portuguese woman known only as Rose-Marie, claimed that these came from “toys”. But the men insisted on opening the boot and were horrified to discover a small, dehydrated and apparently feverish child lying naked in its own excrement.
The mechanic who found the girl, Guillaume Iguacel, said today he was still in shock from the discovery.
"I’m still having trouble sleeping, it was a horrifying sight, seeing this little girl in her own excrement, not able to hold up her head, white as a sheet,” he said.
Mr Iguacel said the girl’s mother appeared to have little concern for her daughter.
"We were deeply shocked because she didn’t find this abnormal. We told her to remove the little girl (from the boot) and give her something to drink right away,” he said.
Paramedics were called and she was immediately taken to hospital.
The mother told investigators that she had kept the child’s existence from her husband, an unemployed builder, also Portuguese, who police were unable to question straight away given his drunken state. The mother said she gave birth alone then hid the baby in the boot. It has no birth certificate and apparently no name.
“It appears the child had been hidden from her birth, and even worse is seriously retarded,” said Jean-Pierre Laffite, the prosecutor in nearby Brive-La-Gaillarde. He said the girl’s height, weight and mental development didn’t conform to her age, estimated to be between 15 and 23 months. She cannot speak a word.
“It’s a situation that defies the imagination,” he added.
Shocked neighbours in the couple’s village of Brignac-la-Plaine in the department of Corrèze said they had no reason to suspect a hidden child.
“The car always stayed outside at night so if the little girl was inside it, we didn’t see anything,” said one.
“We didn’t have much contact with them. She barely said hello, and they didn’t really want to integrate into the neighbourhood. How could we have known?,” Claude, a pensioner who lives opposite the couple, told Le Parisien.
Pascale, another neighbour, said: “We had the impression that this woman lived in her car. She never left it.” "I recall seeing her several times a week with her car parked in a little lot about 200 metres from her house.” "But we couldn’t see what she was doing in the boot,” said Pascale. “We never heard a single cry, never saw a bottle or a pushchair,” said the nursery assistant.
Other neighbours said the mother often used cardboard to cover the car.
"When I think that her baby was locked in the boot of her car parked 100 metres from us, it sends shivers down my spine. She managed to fool everyone,” the mother of one of the other children’s classmates, told Le Parisien.
Her parents have been charged with child abuse and neglect, and social services have taken into care their three other children - a four-year-old girl and two boys aged nine and 10.
The couple, who remain under strict judicial supervision, face a maximum ten-year prison terms if convicted.
As to the motive for hiding the baby, a judicial source said: “(The mother) provided none. That remains the big mystery.”

neděle 27. října 2013

Duplicata incompleta with caudal regression syndrome
Othman A. R. M. Al-Asali, MD., Amal Taha, MD.
Al-Hammadi Hospital, Riyadh, Saudi Arabia.
Case report
This is a case of a 36-year-old G1 P0 who was treated for infertility for the past 16 years. This was her first pregnancy after in vitro-fertilization. It was a twin pregnancy after a transfer of two embryos.
Patient went into a preterm labor and delivered at 31 weeks of gestation. The first baby was a healthy boy of 1800 grams with Apgar scores 6/7/7 (1st/5th/10th minute).
The second baby had multiple malformations. The head showed signs of duplication with 2 pairs of eyes, double chin, wide mouth. The lower extremities were malformed with caudal regression syndrome. Our final diagnosis based on the clinical findings was duplicata incompleta; monocephalus diprosopus tetraophtalmos (“Diprosopus” means “two-faced” in Greek), so called monocephalic diprosopus.
Images 1,2: Image 1 shows the face, eyes and mouth (arrow). Image 2 shows an axial view of the head.
 
Images 3,4: Image 3 shows a parasagittal view of the spine, head is on the right. Image 4 shows the femur bone.


Images 5,6: Axial view of the all 4 eyes (*).   
  
Images 7,8: Images of the 2nd twin after delivery, note the malformed head with 4 eyes, double chin, wide mouth, no apparent nose.


Images 9,10
: Note malformed lower extremitites resmbling caudal regression syndrome.
 

sobota 26. října 2013

Abandoned on Everest



In 2006, a lone climber attempting the summit of Mount Everest for the third time was, purely by chance, caught in an amateur photograph taken by another climber of the scenic mountaintop ahead. The climber in the photograph was making his way up what is known as the Final Push of the Northeast ridge, between Camp VI at 8,230 m and the summit. It was late in the afternoon, a foolishly reckless time to undertake the lengthy and dangerous route.

It would be many hours before the the photographer and his climbing team saw the man again. Leaving the camp at the recommended time, shortly before midnight in order to reach the summit at daybreak, they were first in line of a total of roughly 40 climbers attempting the Final Push that day. A long train of men, all tethered to the lengths of rope permanently in place to keep climbers on the right track.



For decades, this rope had taken climbers within a few feet of what became known as Green Boots cave. A small limestone overhang located at 8500 m, it was already infamous among climbers for the same reason it earned its nickname. For the past ten years, the body of a climber who died in 1996 has been a grim landmark for every climber of the Northeast route, lying curled up in the fetal position, wearing fluorescent green mountaineering boots.



This morning, however, Green Boots had company. Sitting no more than two feet to the left of the corpse was a man who at first glance appeared to be dead. His gloved hands were on his knees, his hood and hat cast his face in shadow. The only feature visible was the man's severely frostbitten nose, already a greenish black hue. On closer inspection, the vapor from the man's breath could be seen rising.

What happened next entered the folklore of the highest mountain on earth. Every man interviewed gives a different story. What is certain is that every single one of the 40-odd climbers attempting the summit that day left the man in the cave, whose name was David Sharp, to freeze, either by choice, by ignorance, or by misjudging him as a corpse they already expected to see in that infamous cave.

While chilling in itself, the incident pales in the bigger context of the deadliness of Mount Everest. For every ten climbers who have ever reached the summit, the mountain has claimed one of them. In the 56 years since the first men in history reached the top, 216 people have died, and the grim reality of the horrific conditions of the Final Push is that 150 bodies have never been, and likely can never be, recovered. They are all still there, and located, almost without exception, in the Death Zone.



Above a certain altitude, no human can ever acclimatize. Known as the Death Zone, only on 14 mountains worldwide can one step beyond the 8000 meter mark and know that no amount of training or conditioning will ever allow you to spend more than 48 hours there. The oxygen level in the Death Zone is only one third of the sea level value, which in simple terms means the body will use up its store of oxygen faster than breathing can replenish it.

In such conditions, odd things happen to human physical and mental states. A National Geographic climber originally on Everest to document Brian Blessed's (ultimately botched) attempt at summiting, described the unsettling hallucinogenic effects of running out of oxygen in the Death Zone. The insides of his tent seemed to rise above him, taking on cathedral-like dimensions, robbing him of all strength, clouding his judgement. Any stay in the Death Zone without supplementary oxygen is like being slowly choked, all the while having to perform one of the hardest physical feats imaginable.



Lack of oxygen and treacherous terrain are not the only challenges on Everest, however. Ascents are very rarely attempted outside a very short window between May and June when conditions are at their absolute best, with average temperatures of -27 degrees celcius, and 50 mph winds. But Mount Everest is so high that the top actually penetrates into the stratosphere, where winds known as Jet Streams can flow up to 200 mph, driving temperatures down to minus 73 degrees celcius.

Any exposed skin at high altitudes, even at the best of conditions, are prone to frost bite. A reaction to extreme cold, frost bite starts when blood vessels in the skin contract to preserve core body temperature, in conditions where normal blood flow would lead to the body cooling dangerously fast.



Over time, if the exposed areas of skin are not heated, the lack of blood flow causes tissue death and, even if reheated, gangrene. At this stage, amputations are common.


Climbers are by no means ignorant of these facts. They are reiterated in every source, in every article, and somehow adds to the dangerous allure of the mountain.


But in the words of David Brashears, five time summiteer of Everest, "there had been nothing in my training to prepare me to pass through the open graveyard waiting above."


The case of Hannelore Schmatz is an infamous one. On October 2, 1979, after a successful summit, and for reasons unclear, she died of exhaustion 100 meters short of reaching Camp IV. For years, any climber attempting the southern route could see her body, sitting, leaning against her backpack with her eyes open and brown hair blowing in the wind. Despite being so exposed and so visible along the well-trodden climbing route, rescue operations are virtually suicidal in the Death Zone. A Nepalese police inspector and a Sherpa who tried to recover Hannelore's body in 1984 both fell to their deaths. It was finally high winds that blew her remains over the edge and down the Kangshung face.



An area along the northeast route to the summit has earned the unassuming nickname of "Rainbow Valley", simply because of the multicolored down jackets of the numerous corpses littering the hillside. Even in the harsh conditions of lethal altitudes, corpses can remain for decades, some appearing frozen in time with climbing gear intact.



Brashears explains, "Despite the snow and ice, Everest is as dry as a desert, the sun and wind quickly mummify human remains." The picture below serves as an example, it shows the corpse of mountaineer George Mallory, lost on Everest in 1924, and the state in which it was found in 1999 after 75 years exposed.




No study has ever been done on the causes of death on Everest, what it is that makes people sit down and give up sometimes within shouting distance of safety. But climbers refer to a kind of confrontation with fear that they experience at a certain point up the mountain. The realization that, not only will you not be able to help anyone else in trouble, but if you mess up, in any way, no one will likely be able to help you either.

Media term it "summit fever", the apparent callousness that drives mountaineers to disregard ethics on their Everest ascents, sometimes literally climbing over dead bodies to reach their goals. But whatever the preparation and outlandish cost, perhaps it's not simply ruthless determination that makes someone abandon their team mates, and yet still have the energy to summit. In such alien conditions, utterly hostile to human life, climbers might face their own mortality. Under the spectre of pure, unadulterated fear, they must realize that they are beyond help as well as beyond helping anyone else.

If they don't, they fall among those who never leave, abandoned on Everest.









Online Documentaries:
Dark Side of Everest: http://www.youtube.com/watch?v=HQJQapyHAQg
Dying For Everest: http://www.documentary-film.net/search/watch.php?&ref=132