Aims: To explore the feasibility of detecting sex chromosome aneuploidies (SCAs) by means of gene copy number quantification of short stature homeobox (SHOX), vesicle-associated membrane protein 7 (VAMP7), and SRY in newborns. Materials and Methods: Gene doses of SHOX, VAMP7, and SRY were determined by quantitative polymerase chain reaction (qPCR) using DNA obtained from dried blood samples from newborns. Relative quantification values were obtained. An aneuploidy profile was established according to cutoff values. Samples with ≥2 gene doses (out of range) were reanalyzed, and those with aneuploidy profiles were confirmed by karyotyping. Sensitivity, specificity, and positive and negative predictive values were obtained. Results: A total of 10,033 samples were collected (4945 females and 5088 males). Of 244 (2.43%) samples with ≥2 gene doses that were retested, 20 cases were confirmed. The overall incidence of SCAs was 1 in 500 live newborns. There were six cases of Turner syndrome (1/824), 3 cases of XXX (1/1648), 7 cases of Klinefelter syndrome (1/726), and 4 cases of of XYY (1/1272). The sensitivity was 0.952 (95.24%), specificity of 0.975 (97.56%), positive predictive value of 0.909 (90.91%), and negative predictive value of 0.987 (98.77%). Conclusions: Gene copy number analyses of VAMP7, SHOX, and SRY genes by qPCR from blood samples spotted onto filter paper is a highly reliable method for the early detection of male and female SCAs.

This study aims to compare meibomian gland (MG) dropout and MG dysfunction (MGD) between patients with diabetes mellitus (DM) with moderate–severe non-proliferative diabetic retinopathy (NPDR) and patients with no diabetes (NDM). This prospective, transversal, age, and gender-matched case–control study included 98 DM and 106 NDM eyes. Dry eye disease (DED) and MGD evaluations were performed, including meibography (Keratograph 5M^®). The objective MG dropout percentage was obtained by analyzing meibography images with ImageJ software (v. 1.52o, National Institutes of Health, Bethesda, MD, USA) and was subsequently graded with Arita’s meiboscore. The DM duration was 18 ± 9 years. The mean meiboscore (3.8 ± 0.8 vs. 3.4 ± 1.0, p = 0.001), meiboscore severity (p = 0.016), and MG dropout (45.1 ± 0.1% vs. 39.0 ± 0.4%, p < 0.001) were greater in DM than in NDM. All patients showed MG dropout (meiboscore > 1). Lower eyelids showed greater MG dropout in both groups. A correlation with age (r = 0.178, p = 0.014) and no correlations with DM duration or gender (p > 0.005) were observed. Patients with diabetes showed greater corneal staining (1.7 ± 1.3 vs. 0.9 ± 1.1; p < 0.001), reduced corneal sensitivity (5.4 ± 1.1 vs. 5.9 ± 0.4; p < 0.001), lower MG expressibility (3. 9 ± 1.6 vs. 4.4 ± 2.1; p = 0.017), and worse meibum quality (1.9 ± 0.8 vs. 1.7 ± 0.5; p = 0.019). Tear breakup time, osmolarity, MMP-9, Schirmer, and the Ocular Surface Disease Index showed no significant differences. In conclusion, patients with DM with NPDR have greater MG dropout and meiboscore, as well as more severe MGD and DED parameters than persons with NDM.

(1) Background: Mask-associated dry eye (MADE) has been associated with increased dry eye symptoms, apparently due to reduced tear break-up time (TBUT). This study aimed to determine the short-term impact of surgical face mask (FM) on tear film stability by measuring non-invasive tear break-up time (NIBUT). (2) Methods: Twenty-six healthy participants had NIBUT evaluated without FM, with surgical FM and with a surgical FM secured to the skin with adhesive tape (TFM). NIBUT-first was measured with Keratograph 5M (K5M, Oculus, Wetzlar, Germany). Each participant had NIBUT measured in four sessions on four consecutive days. Session 1: without FM vs. with FM. Session 2: with FM vs. without FM. Session 3: without FM vs. with TFM. Session 4: with TFM vs. without FM (3). The time between each measured setting was 2 min. Results: The mean ± SD NIBUT without FM was 8.9 ± 3.7, with FM 10.2 ± 4.1, and with TFM 8.4 ± 3.8 s. No significant differences were observed in NIBUT in any of the evaluated settings: without FM vs. with FM (p = 0.247), without FM vs. with TFM (p = 0.915), and with FM vs. with TFM (p = 0.11). (4) Conclusions: This study did not find a significant short-term effect of FM on NIBUT. Other variables or longer periods of exposure might trigger the symptoms and ocular surface alterations in MADE.

Training and encouraging students to critically review the evidence and make evidence-based decisions should be one of the goals of medical education. We report our experience developing an extracurricular university student statistical team that offer statistical aid to other students and faculty. This includes supervised training sessions and mentoring in diverse scientific research fields performed in our university.

Purpose: The study aims to compare dry eye disease (DED) prevalence and severity between seropositive and seronegative Sjögren disease (SjD). Methods: Prospective, consecutive, comparative cross-sectional cohort study. A total of 160 eyes of 80 patients with SjD by The American College of Rheumatology and the European League Against Rheumatism 2016 criteria were included: 55 seropositive and 25 seronegative SjD. Associated SjD was excluded. Patients had dry eye tests performed. Generalized estimating equations were used to account for intereye correlation of the same participant. Results: Mean age was 52.2 ± 12.7, 96.3% were women, no differences were observed between groups ( P > 0.05). Seronegative SjD had positive minor salivary gland biopsy more often (100% vs. 82%, P = 0.024), but with lower focus score (2.0 ± 1.2 vs. 4.1 ± 3.5, P = 0.006) than seropositive SjD group. DED prevalence was similar in seropositive and seronegative SjD (92.7% and 84%; P = 0.088). Only noninvasive break-up time (NIBUT) average was significantly reduced in seropositive SjD (6.6 ± 3.2 vs. 8.8 ± 2.4, P = 0.011), and the rest of the evaluated DED tests were not significant. In the seropositive group, nonstatistically significant trends toward more severe DED signs, including matrix metalloproteinase-9, osmolarity, Schirmer I without anesthesia, fluorescein tear break-up time, NIBUT first, and Sicca Ocular Staining Score, were observed. Both groups were highly symptomatic in ocular surface disease index score (43 ± 23 vs. 46 ± 30, P = 0.779) and had a reduction in quality of life in National Eye Institute visual health questionnaire-25 test (72 ± 21 vs. 70 ± 24, P = 0.650). Conclusions: Patients with seropositive SjD showed significantly reduced NIBUT and a trend of more severe DED signs. Patients with seronegative and seropositive SjD were similarly highly symptomatic, experienced important reductions in vision-related quality of life, and had similar DED prevalence.