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 ...
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 ...
July 13, 2018 Research in mice shows that a pharmacological strategy can alleviate multiple behavioral and cellular deficiencies in a mouse model of fragile X syndrome (FXS), the most common inherited form of intellectual disability and a major single-gene cause of autism spectrum disorders. The results are scheduled for publication in Neuropsychopharmacology, and are being […]Continue Reading ...
FDA Approves Epidiolex (cannabidiol) to Treat Lennox-Gastaut Syndrome and Dravet Syndrome June 25, 2018 — The U.S. Food and Drug Administration today approved Epidiolex (cannabidiol) [CBD] oral solution for the treatment of seizures associated with two rare and severe forms of epilepsy, Lennox-Gastaut syndrome and Dravet syndrome, in patients two years of age and older. […]Continue Reading ...
By Dr Ananya Mandal, MDJune 14, 2018 Sleeping too little or even too much has been associated with several disease conditions including metabolic syndrome that predisposes a person to develop diabetes, stroke and heart disease. The findings of the study titled, “Association between sleep duration and metabolic syndrome: a cross-sectional study,” was published in the […]Continue Reading ...
Justin Xavier Moore, MPH1,2,3; Ninad Chaudhary, MB, BS1,3; Tomi Akinyemiju, PhD1,2 (View author affiliations) Suggested citation for this article: Moore JX, Chaudhary N, Akinyemiju T. Metabolic Syndrome Prevalence by Race/Ethnicity and Sex in the United States, National Health and Nutrition Examination Survey, 1988–2012. Prev Chronic Dis 2017;14:160287. DOI: http://dx.doi.org/10.5888/pcd14.160287. PEER REVIEWED Abstract Introduction Metabolic syndrome […]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 ...
July 27, 2018 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 shed light on the underlying mechanism for this disease. These findings were […]Continue Reading ...
Credit: CC0 Public Domain Groundbreaking research out of the University of Otago is showing potential to restore fertility in women suffering polycystic ovary syndrome. Polycystic ovary syndrome (PCOS) is a major endocrine disorder affecting about one in 10 women of reproductive age globally, and is one of the leading causes of infertility in women. Currently, […]Continue Reading ...
June 21, 2018 New genetic testing has been developed at the University of Oxford to detect early signs of a potentially fatal condition that can also develop into full blown leukemia in children with Down’s syndrome. Despite children with Down’s syndrome having around a one in 50 chance of developing acute myeloid leukemia (AML), compared […]Continue Reading ...
Melorheostosis is a rare bone disease. It causes the abnormal growth of new bone tissue on the surface of existing bones. The new bone has a characteristic appearance on x-rays, often described as “flowing” or like dripping candle wax. The excess bone growth typically occurs on the bones in one arm or leg, although it […]Continue Reading ...
May 14, 2018 A new article published in the Cell Reports describes how a new drug is able to reduce the symptoms and activate the dormant neurons characteristic of Rett Syndrome in preclinical models. The study, led by Dr. Manel Esteller, Director of the Epigenetics and Cancer Biology Program (PEBC) of the Bellvitge Biomedical Research […]Continue Reading ...
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