Medicina
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Background and Objectives: Mast cell disorders comprise a wide spectrum of syndromes caused by mast cells' degranulation with acute or chronic clinical manifestations. Materials and Methods: In this review article we reviewed the latest findings in scientific papers about mast cell disorders with a particular focus on mast cell activation syndrome and mastocytosis in pediatric age. Results: Patients with mast cell activation syndrome have a normal number of mast cells that are hyperreactive upon stimulation of various triggers. ⋯ Conclusions: Mast cell activation syndrome overlaps with different clinical entities. No consensus was found on biomarkers and no clearly resolutive treatment is available. Therefore, a more detailed knowledge of this syndrome is of fundamental importance for a correct diagnosis and effective therapy.
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Wilson disease (WD) (OMIM# 277900) is an autosomal recessive inherited disorder characterized by excess copper (Cu) storage in different human tissues, such as the brain, liver, and the corneas of the eyes. It is a rare disorder that occurs in approximately 1 in 30,000 individuals. The clinical presentations of WD are highly varied, primarily consisting of hepatic and neurological conditions. ⋯ In this paper, we reported a case with a novel, hotspot-located mutation in WD. We have suggested that this mutation in the ATP7B gene might contribute to liver findings, progressing to liver failure with a loss of function effect. Besides this, if patients have liver symptoms in childhood and/or are children of consanguineous parents, WD should be considered during the evaluation of the patients.
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Observational Study
Acute Clinical Syndromes and Suspicion of SARS-CoV-2 Infection: The Experience of a Single Romanian Center in the Early Pandemic Period.
Background and Objectives: During the coronavirus disease 2019 (COVID-19) pandemic, patients with chronic diseases suffering exacerbations have required acute medical care. The purpose of our study was to determine useful criteria for the differentiation of patients with acute clinical syndromes and suspicion of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection. Materials and Methods: This was an observational retrospective study, conducted in an internal medicine clinic from April to May 2020. ⋯ Conclusions: The study demonstrated that, until receiving the result of an RT-PCR test for SARS-CoV-2 (usually 12-24 h), association with VTE as a comorbidity, fever, dry cough, and myalgia as clinical features, and GGO on CT are the main markers for the identification of COVID-19 patients among those suspected with acute clinical syndromes. Our results also provide evidence for doctors not to rely solely on biological markers in the case of suspected SARS-CoV-2 infection in patients with exacerbations of chronic diseases. These data are useful for faster decision-making with regard to suspected COVID-19 patients before receiving RT-PCR test results, thus avoiding keeping patients in crowded emergency departments.
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Case Reports
Comparing the Results of Vitrectomy and Sclerectomy in a Patient with Nanophthalmic Uveal Effusion Syndrome.
Nanophthalmic uveal effusion syndrome (UES) is an extremely rare idiopathic disease characterized by a short axial length of the eye, extremely thick sclera and choroid. These structural changes can lead to spontaneous serous detachment of the retina and peripheral choroid. There are many other causes of UES such as trauma, inflammation, cataract surgery, glaucoma, or retinal detachment. ⋯ We documented the course of the disease and the results of the different surgical approaches in both eyes. A pars plana vitrectomy was performed in the right eye and a sclerectomy with sclerostomies in the left eye. In the left eye, even long lasting loss of visual acuity due to a serous retinal detachment was partially reversed.
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Controlled Clinical Trial
Physical Activity and Sport for Acquired Brain Injury (PASABI): A Non-Randomized Controlled Trial.
Background and objectives: Acquired brain injury (ABI) is the first cause of disability and physical activity (PA) is a key element in functional recovery and health-related quality of life (HRQoL) during the subacute and chronic phases. However, it is necessary to develop PA programs that respond to the heterogeneity and needs of this population. The aim of this study was to assess the effectiveness of a PA program on the HRQoL in this population. ⋯ No significant differences were found for the CG across any variables. Conclusions: The PASABI program was feasible and beneficial for improving physiological and functionality variables in the IG. The wide range of the activities of the PASABI program allow its application to a large number of people with ABI, promoting health through PA, especially in the chronic phase.