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Trisomy 21 (Down Syndrome): Introduction – Pediatrics | Lecturio

In this lecture, we will discuss Trisomy 21 or Down syndrome. Trisomy 21 is when a patient has 3 copies of their 21st chromosome in every cell in their body. These patients have characteristic facial features like you can see here. They have hypotonia, they have intellectual disability and they may have congenital malformations and […]

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Molecular Diagnostic Tests in Children With Autism Spectrum Disorder

[ Music ]>>The JAMA Network. [ Music ] [ Silence ]>>Hello. My name is Bridget Fernandez. I’m a medical geneticist working in Saint Johns Newfoundland, and I’m a Professor of Genetics and Medicine at Memorial University of Newfoundland. The Autism Spectrum Disorders are remarkably heterogeneous in terms of their clinical presentation as well as the […]

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Beta Thalassemia; Causes and Types (minor, major and intermedia)

All right welcome back, so we have been talking about anemia, microcytic anemia, now we’re talking about Thalassemia…in the last video we have talked about alpha-thalassemia (link in description). Today. We’ll talk about beta thalassemia So, Beta Thalassemia is a microcytic anemia, and again symptoms of anemia Tired and pale, pale and tired…sometimes, I have […]

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7-year-old Ellie McGinn Teaches Johns Hopkins Medical Students About Mitochondrial Disease

When someone gives a lesson at Johns Hopkins, students listen. But when that someone is seven years old, the audience moves to the edge of their seats. Meet Ellie McGinn, an energetic girl with a rare genetic disorder, known as LBSL.>>My feet were hurting a lot and I was starting to fall.>>Today, she’s visiting Johns […]

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Attention-Deficit/Hyperactivity Disorder (ADHD) – Pediatrics | Lecturio

Let’s move on now and talk a little bit about ADHD, Attention Deficit Hyperactivity Disorder. This is defined as at least six symptoms involving inattentiveness, hyperactivity, or both that have persisted for at least a 6-month period. Inattention means problems listening, concentrating, paying attention to details, organizing tasks, or being easily distracted or forgetful. Hyperactivity […]

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Child Development Resilience and the Environment: An Ecological Perspective

(electronic beeping) – Dr. Miller is back to speak about adverse childhood experiences and associations with developmental disabilities. Dr. Miller. – Well, thank you. That was a short break. (chuckles) I will have to mention that though I work for the California EPA, that none of my comments today represent the state of California in […]

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