Devidi Jahnavi

Devidi Jahnavi adicionou um novo artigo Health
2025-06-16 13:31:52

Managing Proptosis and Double Vision in Thyroid Eye Disease
Thyroid Eye Disease (TED), also known as Graves’ orbitopathy or thyroid-associated ophthalmopathy, is a rare autoimmune condition where the immune system mistakenly attacks the tissues around the eyes. Most commonly associated with Graves’ disease, TED can also occur in hypothyroid or euthyroid individuals, making timely recognition essential even in atypical presentations.TED...

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Devidi Jahnavi adicionou um novo artigo Health
2025-06-16 13:16:41

Vosoritide in Achondroplasia: A New Horizon for Pediatric Growth Therapy
Achondroplasia is the most prevalent form of short-limb dwarfism, caused by a genetic mutation that affects bone growth. Individuals with this rare skeletal disorder typically have an average-sized trunk with disproportionately short limbs, a large head with a prominent forehead, and characteristic facial features. While physical differences are pronounced, intellectual and developmental...

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Devidi Jahnavi adicionou um novo artigo Health
2025-06-16 13:00:52

Understanding RP: Symptoms, Genetics, and Modern Diagnosis
Retinitis Pigmentosa (RP) is a group of rare, inherited retinal disorders that progressively impair vision due to the degeneration of photoreceptor cells. Affecting approximately 1 in 4,000 people globally, RP is a major cause of inherited blindness. Symptoms typically begin in childhood or adolescence with night blindness, followed by a gradual loss of peripheral vision and,...

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Devidi Jahnavi adicionou um novo artigo Health
2025-06-16 12:43:20

Managing Neurofibromatosis Type 1: Emerging Therapies and Clinical Advances
Neurofibromatosis Type 1 (NF1) is one of the most common inherited neurological disorders, affecting approximately 1 in 3,000 individuals worldwide. Caused by mutations in the NF1 gene, it manifests as a multisystem disorder characterized by pigmentary changes, tumor growth, and neurodevelopmental challenges. NF1 is typically diagnosed in childhood and presents a highly variable clinical...

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Devidi Jahnavi adicionou um novo artigo Health
2025-06-16 12:22:16

The MECP2 Mutation: A Genetic Target in Rett Syndrome Therapy
Rett Syndrome (RTT) is a rare, genetic neurodevelopmental condition that predominantly affects females and leads to severe cognitive, motor, and communicative impairments. Although initially mistaken for autism or cerebral palsy, RTT is now recognized as a distinct X-linked dominant disorder typically caused by mutations in the MECP2 gene. The disease follows a characteristic developmental...

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