Publications by authors named "Simona D'angelo"

Background: The coexistence of sickle cell anemia and multiple sclerosis in a single patient presents a rare and challenging clinical scenario, possibly favoured by the interplay between chronic inflammatory states and autoimmune processes.

Methos/results: We present the case of a 36-year-old woman with sickle cell anemia who developed progressive neurological symptoms leading to frequent falls and paraparesis; magnetic resonance imaging showed many periventricular, infratentorial, and both cervical and dorsal spinal cord lesions, leading to a diagnosis of multiple sclerosis. After a multidisciplinary approach the patient was successfully started on ofatumumab.

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Article Synopsis
  • * Before advancements in Next-Generation Sequencing (NGS), misdiagnosis was common, often failing to link symptoms with the underlying genetic causes.
  • * This report highlights the necessity of thorough genetic testing to correctly diagnose thalassemia, demonstrating how a reevaluation can reveal critical genetic factors that align with a patient's symptoms.
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Clinical studies that compare lente insulin and neutral protamine Hagedorn (NPH) insulin in diabetic dogs are lacking. This is a prospective, randomised, controlled clinical study aimed to compare the efficacy and safety of lente insulin and NPH insulin in diabetic dogs. Thirty client-owned, newly diagnosed diabetic dogs were included.

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is used to treat acute and chronic enteropathies in humans, but to date, no studies have evaluated the use of this yeast in dogs. The current study, a prospective non-randomised, double-blinded, placebo-controlled study, evaluated the effects of in healthy dogs and dogs with chronic enteropathies (CE). Four healthy dogs and 20 dogs with CE were included.

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Sarcoglycanopathies are progressive muscle-wasting disorders caused by genetic defects of four proteins, alpha-, beta-, gamma-, and delta-sarcoglycan, which are elements of a key transmembrane complex of striated muscle. The proper assembly of the sarcoglycan complex represents a critical issue of sarcoglycanopathies, as several mutations severely perturb tetramer formation. Misfolded proteins are generally degraded through the cell's quality-control system; however, this can also lead to the removal of some functional polypeptides.

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