Relationship between Capillaroscopic Architectural Patterns and Different Variant Subgroups in Fabry Disease: Analysis of Cases from a Multidisciplinary Center.

Anderson-Fabry disease (AFD) is a genetic lysosomal storage disorder caused by mutations in the α-galactosidase A gene, leading to impaired lysosomal function and resulting in both macrovascular and microvascular alterations. AFD patients often exhibit increased intima-media thickness (IMT) and reduced flow-mediated dilation (FMD), indicating non-atherosclerotic arterial thickening and the potential for cardiovascular events. Nailfold capillaroscopy, a non-invasive diagnostic tool, has shown potential in diagnosing and monitoring microcirculatory disorders in AFD, despite limited research. This study evaluates nailfold capillaroscopy findings in AFD patients, exploring correlations with GLA gene variant subgroups (associated with classical or late-onset phenotypes and variants of uncertain significance (VUSs)), and assessing morpho-functional differences between sexes. It aims to determine whether capillaroscopy can assist in the early identification of individuals with multiorgan vascular involvement. A retrospective observational study was conducted with 25 AFD patients from AOUP "G. Rodolico-San Marco" in Catania (2020-2023). Patients underwent genetic testing, enzyme activity evaluation, and nailfold capillaroscopy using Horus basic HS 200 videodermatoscopy. Parameters like angiotectonic disorder, vascular areas, capillary density, and intimal thickening were assessed. The study identified significant differences in capillaroscopy findings among patients with different GLA gene variant subgroups. Classic AFD variant patients showed reduced capillary length and signs of erythrocyte aggregation and dilated subpapillary plexus. No correlation was found between enzymatic activity and capillaroscopy parameters. However, Lyso-Gb3 levels were positively correlated with average capillary length (ῤ = 0.453; p = 0.059). Sex-specific differences in capillaroscopy findings were observed in neoangiogenesis and average capillary length, with distinct implications for men and women. This study highlights the potential of nailfold capillaroscopy in the diagnostic process and clinical management of AFD, particularly in relation to specific GLA gene mutations, as a valuable tool for the early diagnosis and monitoring of AFD.

Long-Term Efficacy and Safety of Direct Oral Anticoagulants at Reduced Doses in the Secondary Prevention of Venous Thromboembolism and Post-Thrombotic Syndrome.

Background: Anticoagulation for venous thromboembolism (VTE) is required for at least three to six months; however, it is advisable to extend the duration in certain cases, in which case a reduced dose of Direct Oral Anticoagulants (DOACs) may be an option. Our objective was to investigate the efficacy and safety of reduced-dose DOACs in extended anticoagulation treatment compared to full doses. Methods and Results: This retrospective single-centre study included 185 patients treated with DOACs for at least 6 months who were divided into two groups: (1) the Full Dose (FD) group (n = 113) and (2) the Reduced Dose (RD) group (n = 72), which included patients treated with Apixaban at 2.5 mg bis in die (BID) and Rivaroxaban at 10 mg once daily (OD). Post-thrombotic syndrome (PTS) and its progression were evaluated. During an overall follow-up of 48.32 ± 29.49 months, no VTE occurred, and no patients experienced major bleeding; clinically relevant non-major bleeding occurred in three patients in each group (2.7% vs. 4.2% in FD vs. RD, respectively, p = 0.57). From baseline to follow-up, the prevalence of PTS was not significantly decreased in either group (FD: 54.9% vs. 51.3%, p = 0.29; RD 51.4% vs. 44.4%, p = 0.12); conversely, the Villalta score values were significantly decreased at the last follow-up (FD: 5.51 ± 4.18 vs. 5.12 ± 4.36, p < 0.001; RD 5.49 ± 4.06 vs. 5.11 ± 3.73, p = 0.006). Conclusion: In this real-world retrospective registry, very long-term extended anticoagulant therapy with DOACs at full or reduced doses showed comparable efficacy, safety, and impact on PTS progression. Larger studies are needed.

Superficial Venous Thrombosis: A Comprehensive Review.

Superficial venous thrombosis (SVT), an inflammatory-thrombotic process of a superficial vein, is a relatively common event that may have several different underlying causes. This phenomenon has been generally considered benign, and its prevalence has been historically underestimated; the estimated incidence ranges from about 0.3 to 1.5 event per 1000 person-years, while the prevalence is approximately 3 to 11%, with different reports depending on the population studied. However, such pathology is not free of complications; indeed, it could extend to the deep circulation and embolize to pulmonary circulation. For this reason, an ultrasound examination is recommended to evaluate the extension of SVT and to exclude the involvement of deep circulation. Also, SVT may be costly, especially in the case of recurrence. Therefore, accurate management is necessary to prevent sequelae and costs related to the disease. This review aims to analyse the epidemiology of SVT, its complications, optimal medical treatment, and open questions with future perspectives.

Special Issue "COVID-19 and Venous Thromboembolism".

In the last two years, the new coronavirus has afflicted the whole world causing a pandemic burdened by high morbidity and mortality [...].

The Role of Heparin in COVID-19: An Update after Two Years of Pandemics.

Coronavirus disease 2019 (COVID-19) is associated with an increased risk of venous thromboembolism (VTE) and coagulopathy, especially in critically ill patients. Endothelial damage induced by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) is emerging as a crucial pathogenetic mechanism for the development of complications in an acute phase of the illness and for several postdischarge sequalae. Heparin has been shown to have a positive impact on COVID-19 due to its anticoagulant function. Moreover, several other biological actions of heparin were postulated: a potential anti-inflammatory and antiviral effect through the main protease (Mpro) and heparansulfate (HS) binding and a protection from the damage of vascular endothelial cells. In this paper, we reviewed available evidence on heparin treatment in COVID-19 acute illness and chronic sequalae, focusing on the difference between prophylactic and therapeutic dosage.

Ecological Status of Coralligenous Macroalgal Assemblages in the Marine Protected Area (MPA) Isole Ciclopi (Ionian Sea).

The coralligenous habitat represents one of the most important hotspots of Mediterranean biodiversity. However, along the Ionian coast of Sicily (Italy) the coralligenous macroalgal assemblages have always been poorly studied. The present study was carried out in the coralligenous habitat of the Marine Protected Area (MPA) Isole Ciclopi, located along the central-eastern coast of Sicily. Previously, only a few floristic studies, including some data on the coralligenous flora, were conducted within this MPA in the 1970s and 2001. Therefore, the present study aimed to gain an updated knowledge on the coralligenous flora and to compare the current data with data derived from the previous floristic studies, to observe if in the last 50 years environmental changes occurred and to monitor the effectiveness of the MPA in protecting this habitat. In particular, the coralligenous flora of the MPA was analyzed through remotely operated vehicles (ROV) surveys and destructive samples. ROV surveys allow us to observe that the coralligenous assemblages of the MPA are well-structured, especially regarding the encrusting Rhodophyta, which showed the highest percent cover among the main morphological groups/taxa. Through the sample analysis in the laboratory, a total of 92 taxa has been recorded. Comparing the floristic lists of the present research and the past studies, an increase of local biodiversity was highlighted. Nevertheless, an increment of Non-Indigenous Species (NIS), warm-water species, and Rhodophyta with wide ecological valence was also noted. The main causes of these variations in the coralligenous flora have been traced back to reduced water transparency, maybe due to sedimentation, and a rise in the seawater temperature. Therefore, although the coralligenous assemblages of the MPA Isole Ciclopi appear to be well-structured, future studies will be necessary to continue monitoring this habitat to evaluate whether the MPA is effective in safeguarding this hotspot of biodiversity.

Reasoned therapeutic protocol in outpatients with COVID-19.

BACKGROUND: Seventy percent of patients affected by SARS-COV-2 disease are asymptomatic or with symptoms that not required Hospitalization. A prodromal period lasting about 5 days can be identified. In this phase a patient with a positive swab for viral RNA may or may not evolve towards the phase of symptomatic disease. METHODS: In this paper we reviewed the literature related to COVID-19 therapy we propose a reasoned treatment protocols in outpatients according to the age and the comorbidity. RESULTS: The aim of this study was to reduce the impact of the virus by reducing its ability to attack cells and the inflammatory burden and the prothrombotic effects proposing two therapeutic schemes of proven efficacy according to the age of the patients and the comorbidities. CONCLUSIONS: We aimed to reduce worsening of clinical status and hospitalization while protecting patients at home.

Tinea pedis in a child: How reflectance confocal microscopy can help in diagnosis of dermatophytosis.

A 7-year-old girl presented with a hyperkeratotic scale on the plantar surface of her left foot. A microscopic potassium hydroxide examination was performed and negative. Reflectance confocal microscopy was performed showing fungal hyphae and an inflammatory infiltrate confirming a diagnosis of tinea pedis.

Prevalence and morphological changes of carotid kinking and coiling in growth: an echo-color Doppler study of 2856 subjects between aged 0 to 96 years.

Extracranial internal carotid artery (EICA) kinking and coiling are the most frequently reported carotid anomalies in the literature. Embryogenic and acquired causes for such anomalies have been postulated but the prevalence of kinking and coiling has not been well characterized across age categories. The aim of this study is to evaluate the prevalence of EICA coiling and kinking among different age groups to better understand its potential causes and changes during the course of life. A total of 2856 subjects aged 0 to 96 years were studied by echo-color Doppler (ECD). Morphology and anatomical anomalies of the EICA were assessed. Patients with anatomical anomalies were stratified by age groups and the prevalence of EICA abnormalities was calculated. The maximal velocity recorded at the level of the kinking was compared with that measured in the common carotid artery and the peak systolic velocity kinking ratio (PSVKR) was calculated. A total of 284 subjects (9.94% of the sample) were found to have kinking or coiling of the EICA. The prevalence was significantly higher at the extremes of age (≤ 20 and > 60 years old, p < 0.001) supporting the hypothesis of a reduction with growth and a new increase in the elderly. PSVKR was higher in subjects with more severity kinking. This study showed a higher prevalence of EICA coiling and kinking in the very young and in the elderly. This bimodal prevalence distribution supports the hypothesis of a congenital anomaly that resolves with somatic growth, while advanced age with its many anatomical changes leads to its reappearance or worsening. Studies with longitudinal follow-up and paired observation are required to support this hypothesis.

The vascular side of COVID-19 disease. Position paper of the International Union of Angiology.

The SARS-CoV-2 infection (COVID-19) is causing an ongoing pandemic and potentially fatal disease. Development of coagulopathy with thrombotic complications such as deep vein thrombosis and pulmonary embolism are emerging as factors for progression to severe disease and death. Also, a markedly increased level of D-dimer, a protein product of fibrin degradation, has been associated to mortality. Furthermore, activation of immune response due to virus infection may led to uncontrolled severe inflammation with damage to host cells and induction of endotheliitis and cellular apoptosis and pyroptosis. The use of low molecular weight heparin in early stage of the disease could prevent vascular complications and reduce the progression to severe stage of the disease. Aim of this paper was to summarize current evidence about vascular involvement in COVID-19 disease and potential antithrombotic therapy.