November 29, 2018 Audience: Consumer, Health Professional, Pharmacy The U.S. Food and Drug Administration (FDA) is warning that signs and symptoms of a life-threatening side effect called differentiation syndrome are not being recognized in patients receiving the acute myeloid leukemia medicine Idhifa (enasidenib). The Idhifa prescribing information and patient Medication Guide already contain a warning […]Continue Reading ...
What are Down syndrome tests? Down syndrome is a disorder that causes intellectual disabilities, distinctive physical features, and various health problems. These may include heart defects, hearing loss, and thyroid disease. Down syndrome is a type of chromosomal disorder. Chromosomes are the parts of your cells that contain your genes. Genes are parts of DNA […]Continue Reading ...
MONDAY, Nov. 19, 2018 — Seven in 10 people with Down syndrome show evidence of dementia when they die, new research from Britain reveals. “The link between Down syndrome and Alzheimer’s disease has been known for some years now,” explained study author Rosalyn Hithersay, a doctoral candidate in the department of forensic and neurodevelopmental science […]Continue Reading ...
Over 30 years ago, Marsha and Allen Barnett lost their sons to a puzzling childhood disease that relentlessly attacked their nervous systems and sapped their energy. After five-year-old Chuckie died suddenly in 1981, doctors provided a name for the disease: Leigh syndrome. Leigh syndrome is a complex disorder typically caused by dysfunctional mitochondria, the tiny […]Continue Reading ...
49,XXXXY syndrome is a chromosomal condition in boys and men that causes intellectual disability, developmental delays, physical differences, and an inability to father biological children (infertility). Its signs and symptoms vary among affected individuals. Boys and men with 49,XXXXY syndrome have mild or moderate intellectual disability with learning difficulties. Speech and language development is particularly […]Continue Reading ...
Byrne S, Dionisi-Vici C, Smith L, Gautel M, Jungbluth H. Vici syndrome: a review. Orphanet J Rare Dis. 2016 Feb 29;11:21. doi: 10.1186/s13023-016-0399-x. Review. Byrne S, Jansen L, U-King-Im JM, Siddiqui A, Lidov HG, Bodi I, Smith L, Mein R, Cullup T, Dionisi-Vici C, Al-Gazali L, Al-Owain M, Bruwer Z, Al Thihli K, El-Garhy R, […]Continue Reading ...
Treatment with a drug to lower blood pressure slows enlargement (dilatation) of the aorta in children and young adults with Marfan syndrome, according to late breaking results from the AIMS trial presented today in a Hot Line Session at ESC Congress 2018. Dr Michael Mullen, principal investigator, St Bartholomew’s Hospital, London, UK, said: “The trial […]Continue Reading ...
Figure 1: Hypothesis for the onset mechanism of childhood steroid-sensitive nephrotic syndrome. Credit: Kobe University Childhood nephrotic syndrome is the most frequently occurring chronic kidney disease among children. A Japanese research team has identified a group of genes that are strongly related to the development of childhood nephrotic syndrome. The results of this study could […]Continue Reading ...
Angelman syndrome is a genetic disease with no cure. Children grow up with severe intellectual disabilities and a range of other problems, arguably the worst of which are epileptic seizures. Now scientists at the UNC School of Medicine have found evidence that genetic therapy may prevent the enhanced seizure susceptibility. Published in the Journal of […]Continue Reading ...
What Is Noonan Syndrome? Noonan syndrome is a condition that some babies are born with. It causes changes in the face and chest, usually includes heart problems, and slightly raises a child’s risk of blood cancer (leukemia). Noonan syndrome is a pretty common condition, affecting 1 in 1,000–2,500 babies. What Are the Signs & Symptoms […]Continue Reading ...
48,XXXY syndrome is a chromosomal condition in boys and men that causes intellectual disability, developmental delays, physical differences, and an inability to father biological children (infertility). Its signs and symptoms vary among affected individuals. Most boys and men with 48,XXXY syndrome have mild intellectual disability with learning difficulties. Speech and language development is particularly affected. […]Continue Reading ...
An international team that includes multiple Rutgers scientists has made significant progress in understanding the genetic causes of Tourette syndrome. They estimate that over 400 singular or combined mutated genes could pose a risk for Tourette syndrome, suggesting the disorder is as complex as autism, epilepsy, and intellectual disability. The study appears in the journal […]Continue Reading ...
Ultraviolet radiation causes accumulation of collagen in the skin of mice deficient in the Cockayne syndrome group B protein (bottom right). The left column shows stained skin from wild type mice. Credit: M. Majora et al., Science Translational Medicine (2018) Cockayne syndrome is a rare hereditary disease that can lead to dwarfism, neurological impairment, premature […]Continue Reading ...
August 23, 2018 Rush University Medical Center and the Angelman Syndrome Foundation (ASF), a national nonprofit organization headquartered in Aurora, Ill., announced the official opening of the Angelman Syndrome Clinic at Rush Children’s Hospital. The Angelman Syndrome Clinic at Rush is the first and only in Illinois and one of only eight in the U.S. […]Continue Reading ...
Using metabolomic and microbiomic data, Mailman researchers are trying to create a test to identify chronic fatigue syndrome.Continue Reading ...
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