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BACKGROUND: Multiple sclerosis (MS) is a common neurological disease affecting the optic nerve, directly or indirectly, through transsynaptic axonal degeneration along the visual pathway. New ophthalmological tools, arguably the most important being optical coherence tomography (OCT), could prove paramount in redefining MS diagnoses and shaping their follow-up protocols, even when the optic nerve is not involved. METHODS: A prospective clinical study was conducted. In total, 158 eyes from patients previously diagnosed with relapsing remitting MS (RRMS)-with or without optic neuritis (ON), clinically isolated syndrome (CIS) with or without ON, and healthy controls were included. Each patient underwent an ophthalmologic exam and OCT evaluation for both eyes (a posterior pole analysis (PPA) and the optic nerve head radial circle protocol (ONH-RC)). RESULTS: The macular retinal thickness (the 4 × 4, respectively, 2 × 2 grid) and thickness of the peripapillary retinal nerve fiber layer (pRNFL) were investigated. Various layers of the retina were also compared. Our study observed significant pRNFL thinning in the RRMS eyes compared to the control group, the pRNFL atrophy being more severe in the RRMS-ON eyes than the RRMS-NON eyes. In the ON group, the macular analysis showed statistically significant changes in the RRMS-ON eyes when compared only to the CIS-ON eyes, regarding decreases in the inner plexiform layer (IPL) thickness and inner nuclear layer (INL) on the central 2 × 2 macular grid. The neurodegenerative process affected both the inner retina and pRNFL, with clinical damage appearing for the latter in the following order: CIS-NON, CIS-ON, RRMS-NON, and RRMS-ON. In the presence of optic neuritis, SMRR patients presented an increase in their outer retina thickness compared to CIS patients. CONCLUSIONS: To differentiate the MS patients from the CIS patients, in the absence of optic neuritis, OCT Posterior Pole Analysis could be a useful tool when using a central 2 × 2 sectors macular grid. Retinal changes in MS seem to start from the fovea and spread to the posterior pole. Finally, MS could lead to alterations in both the inner and outer retina, along with pRNFL.
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(1) Background: The global burden of diabetes mellitus (DM) has been estimated to reach 600 million patients worldwide by 2040. Approximately 200 million people will develop diabetic retinopathy within this time frame. Diabetic macular edema (DME) is a severe, vision-threatening complication that can develop at any stage of diabetic retinopathy, and it represents the main cause of vision loss in patients with DM. Its harmful consequences on visual function could be prevented with timely recognition and treatment. (2) Methods: This study assessed the clinical (demographic characteristics, diabetic evolution, and systemic vascular complications); laboratory (glycated hemoglobin, metabolic parameters, capillary oxygen saturation, and renal function); ophthalmologic exam; and spectral-domain optical coherence tomography (SD-OCT) (macular volume, central macular thickness, maximal central thickness, minimal central thickness, foveal thickness, superior inner, inferior inner, nasal inner, temporal inner, inferior outer, superior outer, nasal outer, and temporal outer thicknesses, disruption of the ellipsoid zone, and disruption of the inner retinal layers (DRIL) parameters in three groups of individuals: healthy controls (HC), patients with DME and type 1 DM (T1DM-group A), and patients with DME and type 2 DM (T2DM-group B) to identify novel correlations between them that would open a path to new pathogenetic hypotheses and, implicitly, to the identification of new therapeutic methods, as part of a tailored treatment within the concept of precision medicine. (3) Results: The duration of DM was significantly longer in group A as compared with group B, as were the prevalence of smoking and systemic vascular complications. Capillary oxygen saturation and estimated glomerular filtration rates were significantly lower, and serum creatinine levels were significantly higher in group A as compared to group B. Regarding the OCT findings, DME had a predominantly eccentric pattern, and the right eye was more severely affected in both groups of patients. Significantly higher values were obtained in group B as compared to group A for the following OCT biomarkers: macular volume, central macular thickness, maximal central thickness, minimal central thickness, foveal thickness, superior inner, inferior inner, nasal inner, inferior outer and nasal outer thickness. The disruption of the ellipsoid zone was significantly more prevalent within group A, whereas the overall disruption of the retinal inner layers (DRIL) was identified significantly more frequently in group B. (4) Conclusions: Whereas systemic and laboratory biomarkers were more severely affected in patients with DME and T1DM, the OCT quantitative biomarkers revealed significantly higher values in patients with DME and T2DM.
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Microsatellite instability (MSI) or the deficiency of mismatch repair (MMR) proteins is one of the molecular pathways of colorectal tumorigenesis and may have important clinical implications in predicting the treatment response. We evaluated the relationship between clinicopathological features and MMR proteins [mutL homologue 1 (MLH1), mutS homologue 2 (MSH2), mutS homologue 6 (MSH6), postmeiotic segregation increased 2 (PMS2)], adhesion molecules (E-cadherin, beta-catenin) and caudal-type homeobox 2 (CDX2) in 31 patients with colon adenocarcinoma, using immunohistochemistry. We also aimed to assess the prognostic value of the studied proteins. MLH1 loss was correlated to PMS2 loss (p=0.006) and MSH2 loss (p=0.023); MSH2 loss was significantly associated to MSH6 loss (p=0.011). Tumors with MSH6 loss, together with tumors with PMS2 loss, covered all the patients with MSI status. We found a significant correlation between MSI tumors and mucinous histological type (p=0.03), but no significant associations with other clinicopathological features or with survival rate. There was a significant correlation between E-cadherin expression and differentiation degree (p=0.018) and between beta-catenin expression and lymph node invasion (p=0.046). No significant association between CDX2 loss and any clinical or pathological features was found (p>0.05). No significant differences were identified in overall survival according to E-cadherin, beta-catenin or CDX2 expression (p>0.05). In our study, PMS2 loss was significantly correlated with CDX2 loss (p=0.03). In conclusion, the molecular analysis of biological markers for colon cancer may be important for patient stratification, in order to select the optimal treatment algorithm. Our results suggest that probably the double panel (MSH6 and PMS2) is enough to detect the MSI status, instead of using the quadruple panel.