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5 days ago · Bardet-Biedl syndrome (BBS) is a rare genetic disorder affecting many organ systems. Read more about the symptoms, life expectancy, and treatment options.
3 days ago · DMD is a severe type of MD and often shortens life expectancy. Most people with DMD will reach adulthood. They are, however, more likely to die from heart or respiratory failure before or during their 30’s. Symptoms of Duchenne muscular dystrophy. It’s unusual for symptoms to be present from birth.
4 days ago · The syndrome is caused by changes (variants) in the spermine synthase (SMS) gene. Inheritance is X-linked recessive. There is no cure or treatment aside from symptom management. Introduction. Snyder-Robinson syndrome was first described in a single family by Snyder and Robinson in 1969 as a non-syndromic X-linked disorder.
2 days ago · Introduction. Cardiogenic shock (CS) is a fatal condition that causes end-organ hypoperfusion and hypoxia due to low cardiac output, and is an indication for mechanical circulatory support (MCS) when refractory to drug therapy. 1-4 Despite recent therapeutic advances in CS, the mortality rate remains high, especially in patients requiring MCS. 4-7 However, even among cases treated with MCS ...
3 days ago · It results from an unequal sharing of sex chromosomes very soon after fertilization, with one cell of a dividing pair receiving two X chromosomes and a Y chromosome and the other cell of the pair receiving only a Y chromosome and usually dying. (The normal male chromosome number and sex chromosome composition is 46,XY.
1 day ago · Life expectancy is around 50 to 60 years in the developed world, with proper health care. [9] [10] Regular screening for health issues common in Down syndrome is recommended throughout the person's life. [9] Down syndrome is the most common chromosomal abnormality, [25] occurring in about 1 in 1,000 babies born worldwide, [1] and one in 700 in ...
1 day ago · Genetics matter. Know your family, know your genes. LFS predisposes carriers to a diverse range of childhood and adult-onset cancers – some rare, often early onset. Most families with LFS have an inherited pathogenic variant in the TP53 gene – a tumor suppressor gene. Malfunctioning TP53 are involved with most all cancers in the general population.
