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Managing Proptosis and Double Vision in Thyroid Eye DiseaseThyroid 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...0 Comentários 0 Compartilhamentos 25 Visualizações 0 AnteriorFaça o login para curtir, compartilhar e comentar!
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Vosoritide in Achondroplasia: A New Horizon for Pediatric Growth TherapyAchondroplasia 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...0 Comentários 0 Compartilhamentos 22 Visualizações 0 Anterior
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Understanding RP: Symptoms, Genetics, and Modern DiagnosisRetinitis 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,...0 Comentários 0 Compartilhamentos 20 Visualizações 0 Anterior
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Managing Neurofibromatosis Type 1: Emerging Therapies and Clinical AdvancesNeurofibromatosis 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...0 Comentários 0 Compartilhamentos 19 Visualizações 0 Anterior
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The MECP2 Mutation: A Genetic Target in Rett Syndrome TherapyRett 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...0 Comentários 0 Compartilhamentos 22 Visualizações 0 Anterior
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