Tag Archives: syndrome

Down syndrome: Behind the scenes of genetics, leukemia

A group of geneticists working in the Faculty of Medicine at the University of Geneva (UNIGE) focused for many years on the genetic characteristics of Down syndrome. They have sequenced the exome, a specific part of our genome, in a cohort of patients affected both by Down Syndrome and Acute Lymphoblastic Leukemia (DS-ALL), a type of cancer relative to the cells of the immune system in the bone marrow. They were able to sketch an outline of the “genetic identity card” of this disease. They found that RAS, an important oncogene in many cancers, is involved in the tumorigenesis of one third of DS-ALL cases…

Australian woman develops French accent after being injured in car accident

After a serious car accident, an Australian woman has fully recovered from her injuries, except for one very bizarre side effect: She now speaks with a French accent. Leann Rowe’s ordeal began eight years ago, when she woke up in Melbourne’s Austin Hospital after her accident with a broken back and jaw. As her jaw began to heal, Rowe regained her ability to speak, but she noticed that she was slurring her words.  Eventually the slurring transformed into a French accent – which has yet to leave. Rowe said she has never been to France and doesn’t have any French friends – though she did study French in school. Rowe suffers from an extremely rare condition known as Foreign Accent Syndrome (FAS), which causes people to develop an accent different from their native way of speaking, the Herald Sun reported.  Between 1941 and 2012, there have only been 62 recorded cases of FAS worldwide.  The condition occurs when certain tissues in the brain associated with speech are damaged. While her new ability may seem exciting to some, Rowe said the condition has made her feel depressed and anxious. Click for more from the Herald Sun.source : http://www.foxnews.com/health/2013/06/17/australian-woman-develops-french-accent-after-being-injured-in-car-accident/

Tests reveal 66-year-old who lived as a man actually is a woman

A 66-year-old who lived his whole life as a man was given a surprising diagnosis after visiting the doctor in Hong Kong with a swollen abdomen - he was a woman. Doctors realized the patient was female after they found the swelling came from a large cyst on an ovary, the Hong Kong Medical Journal reported. The condition was the result of two rare genetic disorders. The subject had Turner syndrome, which affects girls and women and results from a problem with the chromosomes, with characteristics including infertility and short stature. But he also had congenital adrenal hyperplasia, increasing male hormones and making the patient, who had a beard and a “micropenis”, appear like a man. “Were it not due to the huge ovarian cyst, his intriguing medical condition might never have been exposed,” seven doctors from two of the city's hospitals wrote in the study published on Monday. The doctors said there have been only six cases where both genetic disorders have been reported in medical literature. Turner Syndrome on its own affects only one in 2500 to 3000 females. Click for more from news.com.au. source : http://www.foxnews.com/health/2013/06/04/hong-kong-man-66-finds-out-woman/