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Proteus Syndrome: A Rare Case in An Adult Ward
Get PDFProteus syndrome is an extremely rare disorder that manifests as an asymmetric, disproportionate overgrowth of any connective tissue, such as bone, fat or epidermal nevi, in a mosaic or patchy pattern. It has an estimated prevalence of less than 1/1,000,000 live births. The diagnosis can be difficult because the phenotypes of the patients are variable. Many individuals develop cutaneous capillary malformation and prominent varicosities (large and complex vascular malformations). Thus, Proteus syndrome patients are at risk of developing deep vein thrombosis and pulmonary embolism. The authors present the case of a patient with Proteus syndrome who was admitted because of pulmonary thromboembolism and presented hypertrophy of the left arm and left hemithorax
A Rare Case of Hypophosphataemic Osteomalacia in von Recklinghausen Neurofibromatosis
Get PDFBackground: Neurofibromatosis type 1 (NF1), also known as von Recklinghausen disease, is a one of the more common hereditary autosomal disorders. However, osteomalacia in neurofibromatosis type 1 is very rare tumour-induced osteomalacia; fibroblast growth factor-23 is usually implicated.Patients and methods: We report the case of a patient with a history of von Recklinghausen neurofibromatosis who presented with hypophosphataemic osteomalacia.Results: The patient was treated with high-dose calcitriol and oral phosphate with clinical improvement. Conclusion: Even though it is a rare entity, we must consider the diagnosis of hypophosphataemic osteomalacia in patients with neurofibromatosis in order to deliver appropriate treatment
Chronic Onset Form of Anti-HMG-CoA Reductase Myopathy
Get PDFWe report a case of anti-HMGCR myopathy mimicking limb-girdle muscular dystrophy in a 27-year-old male patient with no history of statin intake and presenting with a chronic onset form over 3 years. Treatment with prednisone and methotrexate was initiated with an insufficient response, so intravenous immunoglobulin was added. One year after initial treatment was started, as levels of creatine kinase (CK) were >1000 U/l, treatment with rituximab was added. Despite a 3-year delay before treatment, muscle strength improved even though
CK levels remain elevated
Post-mRNA COVID-19 Vaccination Myocarditis
Get PDFA new trend of myocarditis among young adults who received mRNA vaccines for COVID-19 is emerging. We present the case of a young adult who presented with chest pain 3 days after the second dose of Pfizer-BioNTech COVID-19 vaccine. He had elevated troponin I and C-reactive protein levels at the time of admission. Electrocardiogram (ECG) and echocardiogram findings were unremarkable. The patient improved with conservative management and was discharged home the next da
Hypothyroid Crisis: Oral or Intravenous Treatment? A Report of Two Cases
Get PDFBackground: Hypothyroid crisis, or myxoedema coma, is a rare condition with high mortality and must be treated promptly. Even though it may be unfavourable, most guidelines only focus on intravenous drug administration due to lack of data on oral treatment.Methods/Results: The course of oral treatment in two patients admitted in our hospital is described. Patients were treated with levothyroxine 1.3 μg/kg and liothyronine 25 μg twice daily, followed after 1 week with only levothyroxine 1.3 μg/kg daily. Oral treatment was successful in both patients without complications or side-effects. Conclusions: Oral substitution is an appropriate alternative to intravenous substitution, which has potential disadvantages and is associated with higher mortality
Management and Treatment of Late-Onset Multiple Sclerosis
Get PDFMultiple sclerosis (MS) with clinical onset after the age of 50 years is unusual and frequently misdiagnosed. Ageing is associated with diverse immune changes also known as immunosenescence, and a higher risk of comorbidities and infections, which need to be considered when planning medical treatments. We describe the case of a 69-year-old woman with late-onset relapsing-remitting MS. Beyond the diagnostic difficulty and specific therapy for MS, we also addressed the management of symptoms, such as spasticity. Our case report confirmed the good safety profile of nabiximols in older age also. Progress in imaging and biomarker assessment has helped to distinguish MS from mimicry disease, which is important for improving disease management in the longer term
Editoriale. Oltre la pandemia
Get PDFDal 2020 le immagini di una moltitudine di vittime causate dalla pandemia da Covid hanno invaso la nostra vita. E’ la prima volta, dopo il secondo conflitto mondiale, che nel mondo si affronta, in maniera così drammatica, la paura e la morte, la sofferenza e la precarietà, il dolore e la malattia.
Queste considerazioni si intrecciano inevitabilmente con i pericolosi stravolgimenti prodotti dallo stato di emergenza.
Tutti i contributi raccolti in questo numero unico della Rivista per l’anno 2021 mettono in evidenza l’importanza delle situazioni ambientali sul comportamento individuale, non ultimo anche su quello criminoso. Le vittime della criminalità, in epoca Covid, impongono la necessità di ulteriori riflessioni al fine di indicare alla vittimologia e alla criminologia un approccio in cui teoria e pratica, suggellate da percorsi creativi e forieri di proficue applicazioni, interagiscano al fine di fornire risposte ai problemi odierni più cogenti
Intelligenza artificiale e machine learning: nuovi strumenti per il contrasto della conflittualità asimmetrica e per la gestione delle crisi - il caso di studio pandemia covid-19
Get PDFConflitti, rischi asimmetrici, instabilità, criminalità e terrorismo sono fenomeni che, assieme a dirompenti eventi come la pandemia COVID-19 sempre più caratterizzano in modo globalizzato gli scenari della sicurezza internazionale. Questa nuova realtà richiede metodologie e soluzioni innovative volte a migliorare il rilevamento, la conoscenza e la comprensione dei fenomeni al fine di prevenire o rispondere a potenziali minacce a livello locale, regionale ed internazionale. Questo documento affronta il problema ed analizza come l'intelligenza artificiale può essere usata per migliorare le competenze di sicurezza attraverso lo sviluppo e l'uso di una piattaforma basata sull'intelligenza artificiale e sugli algoritmi di apprendimento automatico
Platypnoea-Orthodeoxia Syndrome in COVID-19
Get PDFPlatypnoea-orthodeoxia syndrome (POS) is a rare disorder and its pathophysiology has puzzled clinicians for years. Few cases of POS are described in COVID-19 patients in the literature, with a high variability of conditions related to the syndrome. In this article, we report the case of a patient admitted to our hospital for SARS-CoV-2 interstitial pneumonia, who developed POS during the hospitalization
Nannizziopsis Immune Reconstitution Inflammatory Syndrome in a Patient with HIV: First Reported Case
Get PDFWe describe the case of a 35-year-old HIV-positive male of African origin diagnosed with neurotoxoplasmosis and a Nannizziopsis spp. cavitating pulmonary lesion unmasking immune reconstitution inflammatory syndrome (IRIS).The patient presented with headache, left hemiparesis and confusion. MRI of the brain showed two space-occupying lesions in the right basal ganglia and left parietal lobe typical for neurotoxoplasmosis. The patient tested positive for HIV and had advanced CD4 lymphopenia. After commencement of antiretroviral treatment, a CT scan of the chest showed a cavitating lesion in the right upper lobe. The diagnosis of Nannizziopsis spp. fungal infection was confirmed by DNA sequencing on a bronchial wash sample. The patient achieved complete recovery with antiretroviral therapy, standard neurotoxoplasmosis treatment and antifungal treatment with voriconazole for 12 weeks