Teen Med Spot

 Hereditary Spastic Paraplegia Type 56 (SPG56) Introduction: Hereditary spastic paraplegia type 56 (SPG56) is a type of hereditary spastic papelegia,potrayed by firmness in upper and lower limbs,and mostly further neurological features.SPG56 is a genetic disorder,caused by genetic variant in the CYP2U1 gene,leading to a nerve decline.SPG56 is a vital medical focus because it is an ultra-rare,intense genetic neurodegenerative disease that mainly robs children of their capability to walk and talk.It mainly affects young children,with symptoms usually showing up during infancy or early childhood. Cause: SPG56 is a genetic condition caused by disease-causing genetic change in the CYP2U1 on chromosome 4. 6CYP2U1 gene makes an enzyme that is important for many cell processes and signaling pathways.In SPG56,these genetic versions in CYP2U1 gene lead to nerve decline.Every person has 2 copies of the CYP2U1 gene,one on each chromosome passed down from each parent.SPG56 is an autosomal reced...

  What Is Thalassemia? Thalassemia is a genetic blood disorder that affects how the body makes hemoglobin (protein in red blood cells that carries oxygen around the body). Normal hemoglobin is built from two types of protein chains, alpha and beta, and if the body can't make enough of one of them, red blood cells end up malformed and can't carry oxygen properly. The result is anemia that usually shows up in early childhood and sometimes sticks around for life. It's an inherited condition, meaning you need at least one parent who's a carrier to pass it on, and it comes from either a mutation or a missing part in the gene responsible for making one of those globin chains. There are two main types: alpha thalassemia and beta thalassemia (depending on which globin chain is affected). The severity of the disease depends on how much of the gene in mutated/missing. Alpha vs. Beta Thalassemia Alpha thalassemia happens when 1+ alpha-globin genes gets deleted. Losing one copy doe...

 The Hidden Impact of Iron Deficiency in Teens Written By: Hrishant Sahoo Abstract Iron deficiency is one of the most common nutritional problems worldwide. Young teenagers and adolescents are one of the groups that can be affected primarily. This paper explores the causes, symptoms, health effects, diagnosis, and treatment of iron deficiency in teenagers. Adolescents require higher amounts of iron because of growth, changes in the body, and increased physical activity such as playing sports or having extracurriculars. However, many cases of iron deficiency go unnoticed because symptoms such as tiredness, difficulty focusing, and weakness can be misunderstood as one being burnt from stress or lack of sleep. Iron deficiency can impact performance in work/school, physical activity, and the overall quality of life. Understanding the importance of early detection and prevention can help reduce the effects of this condition and improve not only adolescent’s health but everyone around th...

 Somewhere across the United States, a twenty-six-year-old woman sits alone in her car outside a Michigan abortion clinic. After driving six hours, she waits for an appointment she never imagined she would need. Having scheduled an abortion months in advance of the recent laws made in Kentucky, which declared abortion to be illegal, Kelly’s aspirations of becoming a mother one day were brought to a halt. The cancer treatments (radiation therapy) would only harm the fetus, and inevitably choosing not to follow through with the treatments would harm herself in the process. Further down south, in the heart of South Carolina, an African American male must refuse access to diabetes testing as the insurance he has cannot cover the payment hospitals demand they’re given. While his family is linked to having a presence of diabetes throughout generations, Michael must sit with lingering thoughts of whether or not he will suffer the same injustice his parents, grandparents, and their parents...

  Introduction   What is Ehlers-Danlos Syndrome (EDS)? Ehlers-Danlos Syndrome, also known as EDS, is a group of genetic disorders that affect the body’s connective tissues. Connective tissue is found almost everywhere in the body and helps hold everything together, including your own skin, joints, muscles, and blood vessels. People that have Ehlers-Danlos Syndrome have problems with collagen, which is one of the many main proteins that gives connective tissues its strength and flexibility. When collagen doesn’t work the way it’s supposed to, the body’s tissues become weaker and more likely to stretch or to get injured. Why Is It Important?    Even though EDS isn’t very well known, it can have a huge effect on someone’s everyday life. Many people deal with ongoing pain, fatigue, joint injuries, and other symptoms that can make normal activities more difficult. While there isn’t a cure yet, getting diagnosed early and learning how to manage the condition can ...

 Understanding Wilson Disease Uma Patel 6/28/26 What is Wilson Disease Wilson disease is a rare genetic disorder, originally believed to affect about 1 in 30,000 people. However, newer studies suggest 1 in 7,000 people have inherited Wilson disease, indicating a higher prevalence than previously observed1 . The disease causes an accumulation of copper in vital organs such as the liver, eyes, kidneys, and brain. Copper is a necessity for many critical processes – brain tissue production, ATP/energy production, and metabolism - and an inability to properly remove it can be fatal2 . If not properly treated, Wilson disease can develop into cirrhosis, a condition where the liver is permanently scarred causing acute liver failure. Wilson disease results from mutations in the ATP7B gene located on chromosome 13, which holds the “blueprint” for constructing a copper transport protein out of liver cells. Wilson disease follows an autosomal recessive pattern. This means it is only inherited ...