Publications by authors named "D I Zafeiriou"
Article Synopsis
- * One key treatment is the gene therapy called onasemnogene abeparvovec (Zolgensma®), which is effective for patients with specific genetic profiles, although its broad usage raises concerns about safety for less clear cases.
- * A European expert group has investigated the use of Zolgensma® for older and heavier SMA patients, resulting in 12 consensus statements that reflect the evolving understanding of its effectiveness based on new clinical and real-world evidence.
This teaching review aims to provide an overview of the current approach to children with cerebral palsy (CP), retrieving the best available evidence and summarizing existing knowledge in the field of CP in children. We also highlight areas where more research is needed and novel strategies for diagnosing and treating cerebral palsy. CP includes a group of permanent disorders of movement and posture that cause activity limitation.
View Article and Find Full Text PDFTakayasu arteritis is a large vessel vasculitis, characterized by granulomatous inflammation of arterial vessels, that typically affects the aorta, its main branches and pulmonary arteries. Disease diagnosis is a challenge and requires awareness of the condition, as clinical signs can be not specific. We report a case of an adolescent with recurrent stroke diagnosed with Takayasu arteritis.
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- Wolcott-Rallison syndrome is a rare genetic disorder characterized by neonatal diabetes and various health complications, including liver impairment and growth issues, with a significant impact on patient survival rates.
- A review of 62 studies involving 159 patients revealed a median age of presentation at 2.5 months and an average age of death at 36 months, with liver failure being a primary cause of mortality in some cases.
- Transplantation, especially liver or multi-organ transplants, notably improves survival outcomes, with better prognosis linked to specific genetic mutations (missense mutations).
Juvenile systemic lupus erythematosus (jSLE) is a chronic multisystem inflammatory disease that manifests before the age of 16 years, following a remitting - relapsing course. The clinical presentation in children is multifaceted, most commonly including constitutional, hematological, cutaneous, renal, and neuropsychiatric symptoms. Neuropsychiatric manifestations range widely, affecting approximately 14-95 % of jSLE patients.
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