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New treatment of Fukuyama congenital muscular dystrophy
ICNA
ICNA
October 10, 2021
FCMD Scientists rescue Fukuyama congenital muscular dystrophy-related brain defects in a new organoid model developed using stem cells from affected patients Fukuyama congenital muscular dystrophy (FCMD) is a severe genetic neuromuscular disorder affecting the eyes, brain, and muscles. FCMD is caused by mutations disrupting the glycosylation (addition of sugars) of α-dystroglycan (αDG)—a protein required for maintaining muscle integrity. During fetal development, the lack of glycosylation destroys αDG function, leading to severe muscular dystrophy, intellectual disabilities, seizures, and insomnia. Infants born with FCMD have low life expectancies, and patients typically do not survive...
Zaki syndrome: Researchers identify unknown childhood genetic disorder
ICNA
ICNA
Updated October 10, 2021
Maha Zaki Maha S. Zaki, MD, PhDA study published in The New England Journal of Medicine details how researchers discovered a previously unknown genetic disorder that affects prenatal development in children and identified a potential cure. Through a worldwide collaboration, Researchers have identified children from Egypt, India, United Arab Emirates, Brazil, and USA who have all showed similar symptoms and had DNA mutations in the same gene. They have called the disorder Zaki syndrome, after co-author Maha S. Zaki, MD, PhD, of the National Research Center in Cairo, who first noticed it. The syndrome affects prenatal development of...
The CNS-ICNA Pediatric Neurology Virtual Course
ICNA
ICNA
September 23, 2021
cns icna pkt neuromuscular course min The CNS-ICNA supported Pediatric Neurology virtual course spanning over the next 4 months, mainly for Asia region is being hosted by Lahore, Pakistan. The upcoming Neuromuscular workshop is on Sep 25, 2021. Saturday 5-8 PM PKT. EMG/ NCS /EP Hands-on workshop on Electromyogram (EMG), Nerve conduction studies (NCS), and Evoked Potentials (EP). Participants will learn about practical approaches to these neurophysiological testing, including discussion about Technical aspects, indications, interpretations, and limitations. This workshop will be suited for Neurologists, Child neurologists, neurophysiologists, nurses, and technicians. pdf Download Flyer161.31...
Kennedy Krieger Institute announces the new Michael V. Johnston Center for Developmental Neuroscience
ICNA
ICNA
September 23, 2021
mike johnston Kennedy Krieger Institute celebrates Dr. Michael V. Johnston’s career, as they announce the new Michael V. Johnston Center for Developmental Neuroscience at Kennedy Krieger Institute. Dr. Johnston is a role model for many physicians and scientists across the globe and an international icon in developmental neuroscience. The ICNA community extends their hearty congratulations to Dr Johnston on this occasion. Education Dr. Johnston attended Franklin and Marshall College before going on to medical school at the University of Pittsburgh, from which he graduated cum laude in 1971. His post-doctoral training at...
14th Dr K.C Chaudhury Oration Award 2021 to Dr Pratibha Singhi
ICNA
ICNA
September 23, 2021
Pratibha Singhi The ICNA extends their hearty congratulations to Dr Pratibha Singhi, Secretary General & President-Elect on her being awarded the 14th Dr K.C Chaudhury Oration Award 2021.  Dr Pratibha Singhi is Director Pediatric Neurology and Neurodevelopment, Medanta, Gurgaon and Former Head & Chief Pediatric Neurology, and Neurodevelopment Department of Pediatrics, PGIMER, Chandigarh, She was also Chief Consultant Rehabilitation Centre for Disabled children, Chandigarh. She has worked as Consultant Pediatric Neurologist–at The Great Ormond Street Hospital, London, UK in 2005 and 2008. Her main Research interests are in neurodevelopmental disorders, CNS infections and epilepsy. ...
Professor Tiina Talvik (21.04.1938–09.02.2021)
ICNA
ICNA
Updated August 04, 2021
Prof Talvik3 300x300 Tiina Talvik was born in April 21 in 1938 into a family of teachers. She graduated from The University of Tartu in 1962 and started her career as pediatrician and pediatric neurologist at Tartu Children`s Hospital. From the very first moments of her medical career she was enthusiastic, not only for her research but also for taking care of her patients. After working for a few years, she started to appreciate the importance of genetics and started a medico-genetical service in Estonia. This made her a pioneer of the field at the time. She started working...
Neuropathogenesis and Neurologic Manifestations of the Coronaviruses in the Age of Coronavirus Disease 2019
ICNA
ICNA
March 29, 2021
This narrative review from JAMA Neurology summarize available information regarding coronaviruses in the nervous system, identify the potential tissue targets and routes of entry of SARS-CoV-2 into the central nervous system, and describe the range of clinical neurological complications that have been reported thus far in COVID-19 and their potential pathogenesis. m nrv200003f1 1596744508.39826 Emerging data suggest that ACE2 receptors are expressed in multiple regions of the human and mouse brain, including the motor cortex, posterior cingulate cortex, ventricles, substantia nigra, olfactory bulb, middle temporal gyrus, ventrolateral medulla, nucleus of tractus solitarius,...
Zolgensma Benefits Observed in Presymptomatic SMA Patients
ICNA
ICNA
March 28, 2021
zolgensma According to research presented at the 2021 Muscular Dystrophy Association (MDA) Virtual Clinical and Scientific Conference, on the SPR1NT trial Children with SMA treated with onasemnogene abeparvovec-xioi (Zolgensma®; Novartis) prior to the onset of symptoms, achieved milestones like sitting, standing and walking at an appropriate age, grew as expected without nutritional assistance, and remained free of all forms of mechanical ventilatory support. These findings further underscore the urgent need for newborn screening. As a gene therapy, ZOLGENSMA® (onasemnogene abeparvovec-xioi) is designed to target the genetic root cause of spinal muscular atrophy (SMA) by replacing the...
ICNA
ICNA
March 20, 2021
In the largest DNA sequencing study of Tourette Disorder (TD) to date, UC San Francisco researchers and their collaborators have unearthed new data suggesting a potential role for disruptions in cell polarity in the development of this condition. The researchers focused on "de novo" mutations, or rare mutations that arise anew at conception, rather than being inherited from parents. They observed that these mutations tend to affect genes with a role in cell "polarity," which is the process by which cells differentiate "top" and "bottom." This is particularly important in the brain, where neurons must form...
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