Publications by authors named "M Marica"
Background: Alpha-thalassemia X-linked intellectual disability (ATR-X) syndrome, is a rare genetic disorder, caused by mutations in the ATRX gene. Clinical manifestations include typical facial dysmorphisms, mild-to-severe intellectual disability, hypotonia, genital anomalies, significant gastrointestinal (GI) complications, such as abdominal distension, chronic constipation, feeding difficulties, gastroesophageal reflux, and mild-to-moderate anemia secondary to alpha-thalassemia.
Case Presentation: We report a patient with ATR-X syndrome suffering from gastrointestinal dysmotility and highlight the beneficial effects of pyridostigmine.
Background: Houge-Janssens syndrome 1 is a condition with onset in early childhood caused by heterozygous pathogenic variants in the gene, which encodes a B56 regulatory subunit of the serine/threonine protein phosphatase 2A (PP2A). There is evidence that the PP2A-PPP2R5D complex is involved in regulating the phosphatidylinositol 3-kinase (PI3K)/AKT signalling pathway, which is crucial for several cellular processes, including the pathogenesis and progression of haemangiomas.
Case Presentation: We report the first -related neurodevelopmental disorder case from Sardinia, a child with transient hypoglycaemia, facial dysmorphisms, and multiple haemangiomas.
Article Synopsis
- - Neurofibromatosis type 1 (NF1) is a genetic disorder caused by a mutation that leads to issues like vascular and neurological abnormalities.
- - Serious complications can include moyamoya syndrome, which causes the progressive narrowing of brain arteries, and renal artery stenosis, a common cause of high blood pressure in NF1 patients.
- - The article reviews clinical cases of NF1 vasculopathy, focusing on diagnosis, management, and potential future strategies for screening and treatment options.
Background: The physical characterisation of FFF-beam profiles in the presence of a magnetic field requires a new standardization procedure and formulation.
Purpose: The aim of this multicentric experience is to propose new normalisation factors to allow for the calculation of standard parameters typical of flattened beams, such as dosimetric field size and penumbra, for a 6 MV FFF beam from an MR-linac.
Methods: The measurements were carried out on three ViewRay-MRIdiansystems.
Dystrophinopathies are inherited diseases caused by mutations in the dystrophin () gene for which testing is mandatory for genetic diagnosis, reproductive choices and eligibility for personalized trials. We genotyped the gene in our Italian cohort of 1902 patients (BMD n = 740, 39%; DMD n =1162, 61%) within a nationwide study involving 11 diagnostic centers in a 10-year window (2008-2017). In DMD patients, we found deletions in 57%, duplications in 11% and small mutations in 32%.
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