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.

Gender, through genetic, epigenetic and hormonal regulation, is an important modifier of the physiological mechanisms and clinical course of diseases. In diabetes mellitus, there are gender differences in incidence, prevalence, morbidity, and mortality. This disease also has an impact on the microvascular function. Therefore, this cross-sectional study was designed to investigate how gender affects the cutaneous microcirculation. We hypothesized that gender should be an important factor in the interpretation of capillaroscopy and transcutaneous oxygen saturation results. The study group consisted of 42 boys and 55 girls, uncomplicated diabetic pediatric patients. Females (F) and males (M) did not differ in terms of age, age at onset of diabetes, or diabetes duration. Furthermore, they did not differ in metabolic parameters. The comparison showed that group F had lower BP, higher pulse, and higher HR than group M. Group F had significantly lower creatinine and hemoglobin levels than group M. In children and adolescents with type 1 diabetes without complications, there was a gender difference in microcirculatory parameters. The resting transcutaneous partial pressure of oxygen was significantly higher in females than in males. However, there were no gender-related differences in basal capillaroscopic parameters or vascular reactivity during the PORH test. Our results indicate that studies investigating the structure and function of the microcirculation should consider the role of gender in addition to known cofactors such as puberty, body mass index, physical activity, and cigarette smoking.

UNASSIGNED: Nail-fold capillaroscopy is a non-invasive method for assessment of the microcirculation in nail folds. This examination is particularly useful for diagnosis, assessment of activity, evaluation of the response to treatment, and assessment of the correlation of changes in microvessels with changes in organs in systemic sclerosis and in scleroderma-spectrum diseases, i.e. dermatomyositis, polymyositis, mixed connective tissue disease, and undifferentiated connective tissue disease.
UNASSIGNED: To perform capillaroscopic analyses of lesions in patients with scleroderma-spectrum diseases and determine the correlation of the capillaroscopic image with organ manifestations and the serological profile.
UNASSIGNED: The study involved 15 patients with scleroderma-spectrum disorders.
UNASSIGNED: Mixed systemic connective tissue disease was diagnosed in 8 patients, and dermatomyositis was detected in 7 patients. The study assessed the frequency of clinical symptoms, e.g. interstitial lung disease or arthritis, and the presence of ANA antibodies. Scleroderma-like microangiopathy was diagnosed in 47% of patients with scleroderma-spectrum disorders. The early pattern was found in patients with mixed systemic connective tissue disease, whereas dermatomyositis was characterized by the late pattern. Non-specific changes were found in 27% of the patients, and a normal image was observed in 27% of the patients.
UNASSIGNED: The analysis also revealed that the reduced number of vessels correlated with the occurrence of interstitial lung disease, and the incidence of Raynaud\'s phenomenon and arthritis was statistically significantly higher in patients with systemic connective tissue disease than in those with dermatomyositis.

This study aimed to evaluate the earliest changes in the structure and function of the peripheral microcirculation using capillaroscopy and transcutaneous oxygen pressure measurement in children and adolescents with type 1 diabetes mellitus at baseline and during post-occlusive reactive hyperemia (PORH) in the function of diabetes duration. Sixty-seven patients with type 1 diabetes mellitus (T1D), aged 8 to 18 years, and twenty-eight age- and sex-matched healthy subjects were included in the analysis. Diabetic patients were divided into subgroups based on median disease duration. The subgroups differed in chronological age, lipid levels, and thyroid hormones. Capillaroscopy was performed twice: at baseline and then again after the PORH test. Transcutaneous oxygen pressure also was recorded under baseline conditions during and after the PORH test. Comparison of capillaroscopy and transcutaneous oxygen pressure parameters at rest and after the PORH showed no statistically significant difference between the subgroups. This remained true after adjusting for variables that differentiated the two subgroups. However, in the group of patients with long-standing diabetes, significant negative correlations were observed between the Coverage value after the PORH test and capillary reactivity with TcPO2_zero (biological zero). Significant positive correlations were also found between distance after the PORH test and TcPO2_zero. The results of our study indicate that in patients with a shorter duration of diabetes, the use of multiple tests provides a better characterization of the structure and function of microcirculation because the onset of dysfunction does not occur at the same time in all the tests.

Objectives: Video capillaroscopy is a diagnostic method for evaluating microvascular changes in type 2 diabetes mellitus (T2DM). This study evaluated microvascular changes, including microvascular architecture, capillary distribution (morphology and density), and angiogenesis conditions in T2DM patients via video capillaroscopy. Methods: A total of 256 patients with T2DM enrolled in this study. Based on electromyography (EMG)-nerve conduction velocity results, patients were divided into patients with normal and abnormal EMG. Microalbuminuria was assessed using biochemical urine analysis. Finally, video capillaroscopy was performed to evaluate changes in microvascular architecture, capillary distribution, and angiogenesis status. Results: The differences between microalbuminuria in patients with normal and abnormal EMG were not significant. Other microvascular changes were not significant between normal and abnormal EMG groups. The patients with greater microalbuminuria were at risk of abnormal EMG 2.8 times higher than those with fewer microalbuminuria (odds ratio = 2.804; 1.034-7.601). However, EMG is not a risk factor for microvascular architecture alternation in T2DM (odds ratio = 1.069; 0.323-3.546). Conclusions: Microvascular alternations are common in T2DM and early detection of these changes could help to avoid the progress of nephropathic complications. Also, video capillaroscopy provides a promising diagnostic method for the detection of microvascular alternations in T2DM.

UNASSIGNED: Systemic sclerosis (SSc) is a disease of a very heterogeneous clinical picture and immunological profile with progression rate that varies between individuals. Although hearing deterioration is not a complaint that comes to the fore in SSc patients, as it is not life-threatening compared to many other more severe symptoms of this disease, it can significantly impair the quality of life. Medical literature concerning this problem is rather scarce.
UNASSIGNED: In this article we systematically reviewed the medical publications concerning hearing impairment in patients with systemic sclerosis to evaluate current understanding of this complex problem. Following PRISMA guidelines a total of 19 papers were found and analysed including 11 original studies and 8 case reports.
UNASSIGNED: Although it seems that hearing impairment in SSc patients is relatively more common than in the general population, based on the analysis of available literature, no firm conclusions regarding its frequency and pathomechanism can be drawn yet. Microangiopathy leading to damage to the sensory cells of the inner ear is suspected to be the main mechanism of hearing loss, although damage to the higher levels of the auditory pathway appears to be underestimated due to incomplete audiological diagnosis.
UNASSIGNED: Undoubtedly, the reason for the difficulty in such an evaluation are the complex and still not fully elucidated pathomechanism of SSc, the individually variable dynamics of the disease and the unique heterogeneity of symptoms. Nevertheless, further studies in larger and appropriately selected groups of patients, focused more on the dynamics of microangiopathy and not solely on clinical symptoms could provide answers to many key questions in this regard.

OBJECTIVE: oral alterations in Systemic Sclerosis (SSc) patients are widespread and include microstomia, periodontitis, telangiectasias, mandibular resorption, bone lesions, and xerostomia. This cross-sectional study aims to evaluate the differences between SSc patients (cases) and healthy subjects (controls) regarding oral manifestations, quality of life (QoL), and microcirculation alterations.
METHODS: plaque index (PCR), periodontal index (PSR), DMFT, salivary flow rate, and buccal opening were measured by expert clinicians. S-HAQ test, the Self-Rating Anxiety State (SAS), the Self-Rating Depression Scale (SDS), and the WHOQOL-BREF test were administered to patients to evaluate their QoL. Microvascular alterations were assessed by oral videocapillaroscopy, performed on gingival and labial mucosa. A statistical analysis was conducted to find significant differences between healthy people and SSc patients.
RESULTS: 59 patients were enrolled in this study. Standard salivary flow is significantly more frequent in controls, while xerostomia, reduced flow, microstomia, lip retraction, and periodontitis are significantly more frequent in the cases. Gingival capillaroscopy showed differences concerning loop visibility, thickening of the gum, tortuosity of gingival loops, and reduced gingival density. Labial capillaroscopy demonstrates that visibility of the labial loops, the labial ectasias, and the tortuosity of the loops are significantly associated with the presence of scleroderma. Hand and facial deformities, hypomobility of the tongue, cheeks, lips, microstomia, and xerostomia significantly compromised the quality of life of SSc patients, which was significantly worse among them. Moreover, oral videocapillaroscopy could be a proper diagnostic method to detect oral microcirculation alterations. SSc patients often present ectasias, rarefaction of the reticulum, microhemorrhages, and megacapillaries, which negatively impact their oral health.
CONCLUSIONS: periodontitis, reduced salivary flow, and microstomia could be considered SSc oral manifestations. Joint deformities, facial appearance, and comorbidities significantly reduce the QoL of SSc patients compared to healthy subjects. Oral videocapillaroscopy could be an innovative and reliable technique to detect oral microcirculation anomalies.

Capillaroscopy is a non-invasive and safe imaging method that allows the evaluation of the microcirculation of the small vessels of the skin. The method\'s main advantage is the early detection of microvascular changes that may occur in certain connective tissue diseases (CTDs). Today, the presence of specific autoantibodies and capillaroscopic findings are generally accepted and emerge as a powerful diagnostic tool for detecting underlying CTDs in patients with Raynaud\'s phenomenon. The role of capillaroscopy has also been investigated in patients with CTD and interstitial lung disease (ILD). In these patients, lung involvement is considered one of the most severe complications, potentially leading to significant morbidity and mortality. So far, studies have shown an association of the scleroderma pattern in capillaroscopy with lung involvement in Scleroderma patients. Although there are studies on the association of capillary findings in patients with other CTDs, further efforts are needed to evaluate this technique and produce high-performance algorithms in the early detection of involvement and the progression of (CTD) related ILD (CTD-ILD). The present study aims to perform capillaroscopy in CTDILD patients with different imaging patterns and to correlate the method\'s findings with those found in high-resolution computed tomography, pulmonary tests, and the immunological profile of patients. Furthermore, the impact of ILD treatment on the capillaroscopic findings will be evaluated.

To investigate the correlations between finger microvascular morphology and function in patients with systemic sclerosis (SSc) and the status of ocular microcirculation, as detected by nailfold videocapillaroscopy (NVC), laser speckle contrast analysis (LASCA), and optical coherence tomography angiography (OCTA). The enrollment included 32 SSc patients, classified according to the 2013 ACR/EULAR criteria, and 27 sex- and age-matched healthy controls. The participants underwent comprehensive rheumatological and ophthalmological examinations, as well as NVC, LASCA, and OCTA analysis on the same day at a single center from March to October 2022. SSc patients receiving intravenous prostanoids cycles were assessed at least 1 month after infusion. Statistical analysis was conducted using Stata® 15.1. Significant direct correlations were observed between the mean capillary number (at NVC) and the mean perfusion of fingers (at LASCA) with the retinal and choroidal perfusion (at OCTA) (all p < 0.05). In addition, a significantly reduced retinal and choroidal perfusion was detected in SSc patients vs controls (all p < 0.05). Interestingly, diffuse cutaneous SSc (dcSSc) patients exhibited a lower choroidal perfusion (p = 0.03) but an increased choroidal thickness (CT) than limited cutaneous SSc patients (p < 0.001). CT was increased also in patients with positive Scl70 antibodies and with a history of digital ulcers directly correlating with disease duration (r = 0.67, p = 0.001). Finally, the combination of LASCA and OCTA parameters showed a significant discrimination capacity between SSc patients and controls, with an area under the curve of 0.80 [95% CI (0.74, 0.87)]. Peripheral microvascular damage is correlated with impaired ocular microcirculation in SSc. The increased choroidal thickness observed in dcSSc may be related to local sub-endothelial extracellular matrix deposition. The combined analysis of choroidal and fingertip perfusion offers preliminary insights that may complement traditional diagnostic methods for SSc.

Coronary heart disease (CHD) and atrial fibrillation (AF) pose significant health risks and require accurate diagnostic tools to assess the severity and progression of the diseases. Traditional diagnostic methods have limitations in providing detailed information about blood flow characteristics, particularly in the microcirculation. This study\'s objective was to examine and compare the microcirculation in both healthy volunteers and patient groups with CHD and AF. Furthermore, this study aimed to identify a relationship between blood microcirculation parameters and endothelial function. Digital capillaroscopy was employed to assess the microcirculation parameters, for example, such as capillary blood flow velocity, the size of red blood cell aggregates, and the number of aggregates per min and per running mm. The results indicate significant alterations in blood flow characteristics among patients with CHD and AF compared to healthy volunteers. For example, capillary blood flow velocity is statistically significantly decreased in the case of CHD and AF compared to the healthy volunteers (p < 0.001). Additionally, the correlation between the measured parameters is different for the studied groups of patients and healthy volunteers. These findings highlight the potential of digital capillaroscopy as a non-invasive tool for evaluating blood flow abnormalities (red blood cell aggregates and decreased capillary blood flow velocity) in cardiovascular diseases, aiding in early diagnosis and disease management.