Saturday, September 10, 2011

Spot Diagnosis 007


What is the diagnosis?

Chimera

Chimera: In medicine, a person composed of two genetically distinct types of cells. Human chimeras were first discovered with the advent of blood typing when it was found that some people had more than one blood type. Most of them proved to be "blood chimeras" -- non-identical twins who shared a blood supply in the uterus. Those who were not twins are thought to have blood cells from a twin that died early in gestation. Twin embryos often share a blood supply in the placenta, allowing blood stem cells to pass from one and settle in the bone marrow of the other. About 8% of non-identical twin pairs are chimeras.

Many more people are microchimeras and carry smaller numbers of foreign blood cells that may have passed from mother across the placenta, or persist from a blood transfusion. In vitro fertilization (IVF) is also contributing to the number of human chimeras. To improve success rates, two or more embryos are placed in the uterus so women who have IVF have more twin pregnancies than usual. More twins mean more chimeras.


In Greek mythology, the Chimera was an awesome fire-breathing monster with the head of a lion, the body of a goat, and the tail of a serpent. The Chimera was killed by the hero Bellerophon mounted, in most versions of the tale, on Pegasus, the winged horse.

Mysterie people

Chimera
EXPLAIN this. You are a doctor and one of your patients, a 52-year- old woman, comes to see you, very upset. Tests have revealed something unbelievable about two of her three grown-up sons. Although she conceived them naturally with her husband, who is definitely their father, the tests say she isn't their biological mother. Somehow she has given birth to somebody else's children.

This isn't a trick question - it's a genuine case that Margot Kruskall, a doctor at the Beth Israel Deaconess Medical Center in Boston, Massachusetts, was faced with five years ago. The patient, who we will call Jane, needed a kidney transplant, and so her family underwent blood tests to see if any of them would make a suitable donor. When the results came back, Jane was hoping for good news.

Instead she received a hammer blow. The letter told her outright that two of her three sons could not be hers. What was going on?

It took Kruskall and her team two years to crack the riddle. In the end they discovered that Jane is a chimera, a mixture of two individuals - non-identical twin sisters - who fused in the womb and grew into a single body. Some parts of her are derived from one twin, others from the other. It seems bizarre that this can happen at all, but Jane's is not an isolated case. Around 30 similar instances of chimerism have been reported, and there are probably many more out there who will never discover their unusual origins.

Spot Diagnosis 006

What is the Diagnosis?

Spot Diagnosis 005

A 9-month-old boy presented with progressive hypotonia and developmental delays, with a weight below the fifth percentile for his age despite a normal food intake. He was born at 38 weeks' gestation after an uncomplicated vaginal birth, and there were no concerns about his growth or development until he was 7 months, when the family physician realized that the boy had been regressing developmentally over the last month. He was not yet sitting, had almost stopped rolling over and had decreased head control. There was no history of seizures or serious illnesses.

Neurological examination revealed a marked central and peripheral hypotonia and normal deep tendon reflexes in his arms and legs. His skin was dry and lax, and his hair was quite coarse and wiry.There were no abnormal birthmarks.

The complete blood count and levels of electrolytes, calcium, magnesium, phosphate, albumin, pre-albumin,total protein, liver enzymes, blood urea nitrogen and creatinine were all within normal limits. The serum copper level was 7.1 μmol/L, and the ceruloplasmin level was 120 mg/L.


What is the diagnosis?

Spot Diagnosis 004


What is your Diagnosis?

Friday, September 9, 2011

The Girl Who Was "Born" Twice

When Keri and Chad McCartney went to the ob-gyn to find out the sex of their baby-to-be six months into the pregnancy, they got some unexpected and frightening news: A grapefruit-size tumor was slowly killing the fetus. Doctors had to remove the tumor—although it wasn’t cancerous, it was sucking up the blood that the fetus needed to grow—and to do so, they performed a surgery that has been completed fewer than 20 times.
They brought the baby about 80% out of her mother’s womb, excised the tumor, and then tucked her back in. Ten weeks later, in May 2008, Macie Hope McCartney was born—again. And this time for good.
Source : http://www.cbsnews.com/stories/2008/06/06/eveningnews/main4161410.shtml
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