Normal Thickness Research Articles

Retinal Nerve Fiber Layer Thickness(RNFL) Measurements in Nepalese Population of Eastern Region by Optical Coherence Tomography

Introduction: Glaucoma represents a group of disease defined by consistent remodeling of the connective tissue elements of the optic nerve head and with the loss of neural tissue of the retinal nerve fiber layer associated with the eventual development of distinctive patterns of visual function.1 OCT is used commonly to evaluate thinning of peripapillary retinal nerve fiber layer (RNFL) objectively and quantitatively, which is a hallmark for the diagnosis of glaucoma.2 As the OCT, normal database is commercially not available for Nepalese eyes. These measurements will provide a reference for the comparison and further evaluation of results of glaucoma and other patients with the help of OCT in the Nepalese Population. Methods: 384 eyes of normal population RNFL thickness measurements were done with peripapillary SD-OCT (Cirrus HD OCT Model 5000/500; Carl Zeiss Meditec, Dublin, USA). Multiple regression analyses were applied to assess the effect of age and mean refractive error on peripapillary RNFL thickness. Results: The average Retinal nerve fiber layer thickness (RNFLT) was highest in the age group 70-79 years (102.33 ±4.61µm) followed by age groups 50-59 years (93.89 ±5.89 µm) and 60-69 years (92.95 ±7.83 µm) respectively. The mean ± SD peripapillary RNFLT (µm) at the superior, inferior, nasal and temporal quadrants in the study population were 117.95±9.41µm, 120.71 ± 10.12 µm, 71.64 ±71.64 µm and 61.65±6.65µm respectively. Conclusion: This study may serve as a reference in comparing changes in RNFL thickness during glaucoma screening with SD-OCT in this population.

Identification of a Missense Mutation in the FLNC Gene from a Chinese Family with Restrictive Cardiomyopathy.

Restrictive cardiomyopathy (RCM) is a heterogenous cardiomyopathy with various causes, and genetic variants take an important part of the pathogenesis. Whole-exome sequencing (WES) is effective to discover genes that cause genetic diseases. By using WES, we attempted to identify the genetic cause of an RCM family and clarify the clinical diagnosis of the patient and then provide a personalized treatment plan. Blood samples were obtained from the proband and his healthy parents. WES and Sanger sequencing were performed to identify the possible pathogenic gene. Co-segregation analysis was conducted for candidate variants, and the allele frequency was checked in databases including Ensembl, Exome Aggregation Consortium (ExAC) and Human Gene Mutation Database (HGMD). Furthermore, the potential effect of variant was predicted using various-free software such as SIFT, Polyphen-2 and Mutation Taster and the conservation was tested using multiple sequence alignments by ClustalX. The proband was a 20 years old boy with severe heart failure symptoms including dyspnea, massive ascites, edema of both lower limbs and chestcongestion. Echocardiography showed significant biatrial enlargement, normal left ventricular wall thickness and preserved systolic function of both ventricles. A missense mutation in FLNC (c.6451G>A, p.G2151S), encoded filamin-C was detected in proband by WES and Sanger sequencing, while it was not be found in his parents, we supposed that the FLNC mutation (c.6451G>A, p.G2151S) may be a de-novo mutation. Through multiple functional predictions, we found that it is a deleterious mutation and the mutation in filamin-C could alter its structure and normal function, contributing to RCM. Here, an FLNC missense mutation (c.6451G>A, p.G2151S) known to be pathogenic in hypertrophic cardiomyopathy, was found to be associated with RCM, indicating the genetic overlap among cardiomyopathies. This study provides insights into Phenotype-Genotype Correlations of RCM in patients with FLNC mutations.

A pilot study of the impact of repeated blink refrainment on ocular surface temperature and the interblink period.

This study examines a potential stress test of repeated blink refrainment and its effects on the interblink period and the rate of evaporative ocular surface cooling. Such a test could aid in the study of computer vision syndrome, in which screen users unconsciously delay blinking, leading to onset of symptoms. This study aimed to examine the relationship between the length of the maximum achievable interblink time and the rate of ocular surface cooling under stress test conditions of repeated refrainment from blinking for as long as possible. Subjects acclimated to the examination room for 10 minutes before measurement and then were asked to hold the eyes open and refrain from blinking for as long as possible (the maximum blink interval), while ocular surface temperature was recorded using an infrared thermographic video camera. Subjects completed 20 trials with four successive blinks separating each trial. Fifteen subjects (8 female and 7 male subjects) completed the study. The grand mean ocular surface cooling rate was -0.027°C/s (range, -0.338 to +0.014°C/s). A faster ocular surface cooling rate was significantly related to an exponentially shorter maximum blink interval (p<0.001). An increasing number of trials was related to a clinically insignificant increase in the length of the maximum blink interval overall, and a post hoc analysis revealed subject subgroups for whom the stress test was effective or ineffective. The ocular surface evaporatively cools exponentially during periods of blink refrainment. With a subgroup of subjects with initially stable tear films and normal lipid layer thickness, cumulative tear film stress from repeated, longer-term blink refrainment could contribute to tear evaporation and symptoms of computer vision syndrome.

COMPARISON OF CHOROIDAL VASCULATURE BETWEEN CENTRAL SEROUS CHORIORETINOPATHY WITH AND WITHOUT THICK CHOROID USING SWEPT-SOURCE OPTICAL COHERENCE TOMOGRAPHY ANGIOGRAPHY.

To distinguish between central serous chorioretinopathy (CSC) with and without thick choroid and to elucidate their characteristics of choroidal vasculature. This prospective observational study enrolled 76 eyes with treatment-naive CSC and 76 normal eyes. Mean + 2 times SD of subfoveal choroidal thickness of healthy individuals was set as the upper limit of normal choroidal thickness to divide patients with CSC into two groups: the thick-choroid and non-thick-choroid groups. Their choroid blood flow was compared using widefield swept-source optical coherence tomography angiography. According to the discrimination value of subfoveal choroidal thickness as 326.8 µm, 76 eyes with CSC were divided into the thick-choroid (55, 72.4%) and non-thick-choroid (21, 27.6%) groups. Higher proportions of vortex vein anastomosis were found in the thick-choroid group (81.8% vs. 33.3%, P < 0.001). Choroid thickness, three-dimensional choroidal vascularity index, and mean choroidal stroma volume per 1 mm2 were higher in the thick-choroid group. In multivariate analysis, younger age, higher percentages of vortex vein anastomosis, and double layer sign were the independent predictors of choroid thickening in CSC. There are discrepancies in the degree of choroidal congestion and distribution of vortex veins in the CSC with different choroidal thicknesses.

Testosterone-Induced Central Serous Chorioretinopathy Mimicking a Choroidal Mass.

To describe a case of supplemental testosterone-induced central serous chorioretinopathy (CSCR) mimicking a choroidal mass in a 63-year-old male. Case report. A 63-year-old male patient on self-prescribed supplemental testosterone with CSCR mimicking a choroidal mass. A 63-year-old male presented with new onset vision loss, subretinal fluid, and choroidal mass in his left eye. Intravenous fluorescein angiography showed an enhancing choroidal mass involving the fovea. B scan ultrasonography revealed diffuse choroidal thickening. Given concern for a diffuse uveal melanoma, the lesion was biopsied showing non-diagnostic rare, atypical melanocytes. Four months after initial presentation, the patient was diagnosed with polycythemia vera. Fourteen months after diagnosis, he admitted to testosterone supplementation. Upon cessation of the testosterone supplement, the lesion progressively flattened to a chorioretinal scar with subretinal fluid resolution, and the return of normal choroidal thickness over the next 14 months. Testosterone supplementation has been linked to erythrocytosis and polycythemia vera. In the retina, testosterone supplementation has been linked to CSCR and both central and branch retinal artery and vein occlusions. This case demonstrates the importance of inquiring about all prescribed and over the counter medications in patients presenting with retinal lesions of unknown origin.

Long-term clinical-pathologic results of enzyme replacement therapy in pre-hypertrophic fabry disease cardiomyopathy

Abstract Background Limited ability of ERT in removing Gb-3 from cardiomyocytes is recognized for advanced FDCM. Pre-hypertrophic FDCM is believed to be cured or stabilized by ERT. However, no pathologic confirmation is available. We report here in the long-term clinical-pathologic impact of ERT on pre-hypertrophic FDCM. Purpose Long-term clinical-pathologic impact of ERT on pre-hypertrophic FDCM. Methods Fifteen Fabry patients with LVMWT ≤ 10.5 mm at CMR required EMB because of angina and/or ventricular arrhythmias. EMB showed coronary small vessel disease in angina cohort and vacuoles in smooth muscle cells and cardiomyocytes around 20% of cell surface containing myelin bodies at electron microscopy. Patients received α-agalsidase in 8 and β-agalsidase in 7 cases. Both groups referred symptoms improvement except 2 patients treated with α- and β-agalsidase respectively. After ERT administration ranging from 4 and 20 years all patients had control CMR and LVEMB because of persistence of symptoms or patients enquiry on disease resolution. Results In 13 asymptomatic FDCM patients, LVMWT and LV-mass, cardiomyocyte diameter, vacuole surface/cell surface ratio and vessels remained unchanged or minimally increased (LV-mass augmented by &amp;lt; 2%) even after 20 years observation and storage material was still present at electron microscopy. In 2 symptomatic patients, FDCM progressed with larger and more engulfed by Gb-3 myocytes being associated to myocardial virus-negative lymphocytic inflammation. Conclusions ERT stabilizes storage deposits and myocyte dimensions in 87% of patients with pre-hypertrophic FDCM. Gb-3 is never completely removed even after long-term treatment. Immune-mediated myocardial inflammation can overlap limiting ERT activity. Figure Legend Patient 11 (24-year-old man) with genetic and biopsy-proven diagnosis of FDCM before and after 20 years ERT. CineMR (A,B) and LGE (C,D) images, performed at baseline (A,C) and 20 years after ERT (B,D) show normal LV wall thickness (8mm and 10 mm) and absence of fibrotic areas. Panel E and F represent semithin section of Epon-embedded EMB samples, stained with basic fuchsin, showing mildly hypertrophied cardiomyocytes containing storage material that result unmodified after long-term ERT administration. Panel G and H are ultrastructural evidence of storage material to consist of myelin bodies (panel G) that remain unchanged after ERT (Panel H).

Neuroprotective effect of ciclopirox olamine in retinal ischemia/reperfusion injury

Retinal ischemia–reperfusion (IR) injury is a basic pathological procedure in clinic and associated with various ischemic retinal diseases, including glaucoma, diabetic retinopathy, retinal vascular occlusion, etc. The purpose of this work is to investigate the effect of ciclopirox olamine (CPX) on retinal IR injury and further explore the underlying mechanism. In vitro assay exhibited that CPX exhibited significant neuroprotection against oxygen glucose deprivation (OGD) and oxidative stress-induced injuries in 661W photoreceptor cells. OGD injury showed a proinflammatory phenotype characterized by significantly increased production of cytokines (IL-6, IL-23 and TNF-α), while CPX significantly inhibited their secretion. In addition, the in vivo experiment demonstrated that CPX significantly preserved the normal thickness of the retina. Therefore, we suggest that CPX is identified in our research as a prospective therapeutic agent for retinal IR injury.

Quantitative Analysis on Vessel Stiffness and Vector Flow Imaging in the Assessment of Carotid Artery Structural and Functional Changes in Patients With Type 2 Diabetes

ObjectiveTo explore the value of RF-data-based quantitative analysis on vessel stiffness (R-QVS) combined with dynamic vector flow imaging (VFI) in evaluating structural and functional changes in the carotid arteries of patients with type 2 diabetes mellitus (T2DM). MethodsA prospective study was conducted between October 2022 and April 2024, including 275 consecutive subjects (50 volunteers as controls, 108 patients with T2DM and normal carotid intima-media thickness (CIMT), and 117 patients with T2DM and thickened CIMT). Carotid intima-media thickness (IMT) was measured using real-time intima-media thickness (RIMT) technology, while R-QVS was employed to measure the systolic diameter (Diam), displacement (Dist), hardness coefficient (HC), and pulse wave velocity (PWV) of the distal segment of the carotid artery. VFI was used to measure the maximum wall shear stress (WSSmax), mean wall shear stress (WSSmean), and maximum instantaneous velocity (Vmax) of the vessel wall. Differences in ultrasound parameters among the three groups were compared, and receiver operating characteristic (ROC) curves were plotted to calculate the area under the curve (AUC), evaluating the efficacy of these parameters in assessing structural and functional changes in the carotid arteries of patients with T2DM. ResultsThere were statistically significant differences in carotid IMT, Diam, Dist, HC, PWV, WSSmax, and Vmax among the three groups (all p < 0.01). The AUCs for evaluating structural and functional changes in the carotid arteries of patients with T2DM using carotid ultrasound parameters Diam, Dist, HC, PWV, WSSmax, and Vmax were 0.64, 0.68, 0.83, 0.88, 0.86, and 0.82, respectively. Multiple linear regression analysis identified Dist., HC, PWV, WSSmax, and WSSmean as influencing factors for CIMT in T2DM patients (with β values of -0.406, 0.515, 0.564, -0.472, and -0.438, respectively; all p < 0.05). ConclusionR-QVS and VFI techniques contribute to the early assessment of structural and functional changes in the carotid arteries of patients with type 2 diabetes mellitus. Compared with controls, T2DM patients exhibit more advanced functional changes than morphological changes despite normal CIMT. The enhanced sensitivity, reproducibility, and detailed assessment capabilities of these methods make them valuable tools in the early detection and intervention of cardiovascular risk in T2DM.

Novel multi-spectral short-wave infrared imaging for assessment of human burn wound depth.

Burn depth determination is critical for patient care but is currently lacking accuracy. Recent animal studies showed that Short Wave Infrared (SWIR) imaging can distinguish between superficial and deep burns. This is a first human study correlating reflectance of multiple SWIR bands using a SWIR assessment tool (SWAT) with burn depth classifications by surgeons and histology. Burns and adjacent normal skin in 11 patients with thermal injuries were imaged with visual and narrow bands centred at 1200, 1650, 1940 and 2250 nm and biopsies were taken from select areas. Reflectance intensities for each band in 273 regions of interest (ROI) were divided by the normal skin reflectance and combined into three Reflectance Indices (RIs). In addition, burns in ROIs and biopsies were classified by five surgeons and three pathologists, respectively, as superficial partial, deep partial, or full thickness. Results show that for burn depth increase classified by the surgeons, reflectance increased at 1200 and 2250, decreased at 1940, and didn't change at 1650 nm. In contrast, all three RIs increase with burn depth and predict the deep and full depths ROIs representing operable regions (Area Under Curve >0.6507, p < 0.0001). Pathologists' classification matched surgeons' classification of burn category only in eight of 21 biopsies (38.1%), but reflectance at all bands and one RI for all deep partial and full thickness biopsies were larger than in non-biopsy normal and superficial partial thickness ROIs (p < 0.0118). In conclusion, multi-spectral imaging with a new SWAT is a promising approach for evaluation of burn wound depth.

In Vivo Assessment of the Pediatric Trabecular Meshwork, Schlemm Canal, and Iridocorneal Angle Using Overhead-Mounted Optical Coherence Tomography

PurposeTo describe the in vivo morphologic characteristics of the trabecular meshwork (TM), Schlemm canal (SC), and iridocorneal angle in pediatric patients with normal eyes, glaucoma and cataract. DesignProspective cohort study Study population70 eyes (41 children) were enrolled. 28 normal eyes, 19 eyes with glaucoma, and 26 eyes with cataract (15 pre-, 11 post-lensectomy). Average age was 2.8±3.0 years at imaging. MethodsPediatric patients undergoing clinically indicated examination under anesthesia underwent overhead-mounted optical coherence tomography (OCT) imaging of the outflow pathway. Images were then evaluated for abnormalities in the outflow pathway. Main outcome measurePresence of thickened TM, SC patency, any iridocorneal angle malformation, and episcleral vessel patency in normal eyes vs. all other eyes. ResultsThickened TM tissue was found in no normal eyes, 47.4% of eyes with glaucoma, and 53.8% of eyes with cataracts. A patent SC was demonstrated in all normal eyes, 32% with glaucoma, and 65.4% with cataracts. Iridocorneal angle abnormality was identified in no normal eyes, 94.7% with glaucoma, and 69.2% with cataracts. Prevalence of iridocorneal angle abnormality was similar in cataract eyes pre- and post-lensectomy. All but one eye with glaucoma secondary to anterior segment dysgenesis had patent episcleral vessels. Intraocular pressure (IOP) at imaging was lower in eyes with than without a patent SC (13.9±3.8mmHg vs. 28.2±11.7mmHg, p<0.001). IOP was lower in eyes with normal iridocorneal angles compared to those with angle malformation (13.9±3.2mmHg vs. 22.6±12.1mmHg, p<0.001). There was no significant difference in IOP between eyes with normal TM thickness compared to those with thickened TM (17.4±8.2mmHg vs.17.4±9.5mmHg, p = 0.943). ConclusionEyes of children with glaucoma demonstrated thickened TM, decreased patency of SC, and abnormalities of the iridocorneal angle on OCT imaging, compared to normal controls. These abnormal findings also appear in many pediatric eyes with cataracts, even prior to lensectomy. Future study is warranted to evaluate the role these structural differences may play in the development of glaucoma following cataract surgery and the significant variation in how individual glaucoma eyes respond to angle surgery.

Pseudo-myometrial thinning in placental site trophoblastic tumors: a case series with multiparametric MRI.

Placental site trophoblastic tumor (PSTT) is a rare form of gestational trophoblastic neoplasm with few previous imaging case reports. We report multiparametric MRI findings in four cases of PSTT with special emphasis on the "pseudo-myometrial thinning" underlying the tumor. We reviewed multiparametric MRI and pathologic findings in four cases of PSTT from four institutions. Signal intensity, enhancement pattern, margins, and location of the tumors were evaluated, and myometrial thickness underlying the tumor and normal myometrial thickness contralateral to the tumor were measured on MRI. The myometrial thickness underlying the tumor was also measured in the resected specimen and compared with the myometrial thickness measured on MRI using the Friedman test. All tumors showed heterogeneous signal intensity on T1-weighted imaging, T2-weighted imaging (T2WI), and diffusion-weighted imaging. Three of the four tumors had a hypervascular area on dynamic contrast-enhanced (DCE) MRI. A hypointense rim on T2WI and DCE-MRI was seen in all tumors. All tumors protruded into the uterine cavity to varying degrees and extended into the myometrium close to the serosa. The myometrial thickness underlying the tumor measured on MRI (median thickness, 1.2mm) was significantly thinner than that measured on pathology (median thickness, 9.5mm) and normal myometrial thickness contralateral to the tumor on MRI (median thickness, 10.3mm) (P = 0.02), and there was no significant difference between the latter two. The thickness of the myometrium underlying the tumor on MRI was approximately one tenth of the thickness on pathology. Thus, the tumors appeared to have almost transmural invasion even when pathologically located within the superficial myometrium. This "pseudo-thinning" of the underlying myometrium and the hypointense rim on MRI could be caused by focal compression of the myometrium by the tumor, possibly due to the fragility of the myometrium at the placental site.

Vitamin D Supplementation in Congenital Ichthyosis: A Case Series.

Ichthyosis is a group of genetic keratinization disorders characterized by excessive scaling that is associated with hyperproliferative epidermis and/or cellular retention. Whereas normal outer epidermis thickness is 25 μm, it can be 10-fold greater in patients with ichthyosis. As a result, photoactivation of 7-dehydrocholesterol is impaired, causing systemic vitamin D deficiency.In this case series, 25 patients with congenital ichthyosis with vitamin D deficiency (<10 ng/mL) were supplemented with 60,000 IU of vitamin D3 for 10 days followed by daily allowance of 400 to 600 IU of vitamin D3 and 40 mg/kg per day of elemental calcium. The authors assessed improvement in cutaneous scaling and body and tested patients' blood and urine samples at day 1, day 10, 1 month, and 3 months. They also documented patients' Dermatology Life Quality Index score before and after treatment.All patients had normal vitamin D levels; supplementation was discontinued for two patients who reached a level of 100 ng/mL within 10 days. Subjective improvement of symptoms (dryness of the skin, allergic rhinitis, tightness of the skin, and scaling) was observed by both the provider and the patients. There was remarkable improvement in symptoms of severe ichthyosis such as lamellar ichthyosis (tightness of the skin and scaling). Marked improvement in Dermatology Life Quality Index score was also noted.This case series demonstrated remarkable symptomatic relief with vitamin D supplementation in patients with congenital ichthyosis; however, additional research should be conducted with larger sample sizes to support these findings.

Quality of Life and Exercise Capacity in Early Stage and Subclinical Hypertrophic Cardiomyopathy: A Secondary Analysis of the VANISH Trial.

The health-related quality of life (HRQOL) and cardiopulmonary exercise testing (CPET) performance of individuals with subclinical and early stage hypertrophic cardiomyopathy (HCM) have not been systematically studied. Improved understanding will inform the natural history of HCM and factors influencing well-being. VANISH trial (Valsartan for Attenuating Disease Evolution in Early Sarcomeric HCM) participants with early stage sarcomeric HCM (primary analysis cohort) and subclinical HCM (sarcomere variant without left ventricular hypertrophy comprising the exploratory cohort) who completed baseline and year 2 HRQOL assessment via the pediatric quality of life inventory and CPET were studied. Metrics correlating with baseline HRQOL and CPET performance were identified. The impact of valsartan treatment on these measures was analyzed in the early stage cohort. Two hundred participants were included: 166 with early stage HCM (mean age, 23±10 years; 40% female; 97% White; and 92% New York Heart Association class I) and 34 subclinical sarcomere variant carriers (mean age, 16±5 years; 50% female; and 100% White). Baseline HRQOL was good in both cohorts, although slightly better in subclinical HCM (composite pediatric quality of life score 84.6±10.6 versus 90.2±9.8; P=0.005). Both cohorts demonstrated mildly reduced functional status (mean percent predicted peak oxygen uptake 73±16 versus 78±12 mL/kg per minute; P=0.18). Percent predicted peak oxygen uptake and peak oxygen pulse correlated with HRQOL. Valsartan improved physical HRQOL in early stage HCM (adjusted mean change in pediatric quality of life score +4.1 versus placebo; P=0.01) but did not significantly impact CPET performance. Functional capacity can be impaired in young, healthy people with early stage HCM, despite New York Heart Association class I status and good HRQOL. Peak oxygen uptake was similarly decreased in subclinical HCM despite normal left ventricular wall thickness and excellent HRQOL. Valsartan improved physical pediatric quality of life scores but did not significantly impact CPET performance. Further studies are needed for validation and to understand how to improve patient experience. URL: https://www.clinicaltrials.gov; Unique identifier: NCT01912534.

Varied cellular abnormalities in thin vs. normal endometrium in recurrent implantation failure by single-cell transcriptomics

BackgroundReduced endometrium thickness and receptivity are two important reasons for recurrent implantation failure (RIF). In order to elucidate differences between these two types of endometrial defects in terms of molecular signatures, cellular interactions, and structural changes, we systematically investigated the single-cell transcriptomic atlas across three distinct groups: RIF patients with thin endometrium (≤ 6 mm, TE-RIF), RIF patients with normal endometrium thickness (≥ 8 mm, NE-RIF), and fertile individuals (Control).MethodsThe late proliferative and mid-secretory phases of the endometrium were collected from three individuals in the TE-RIF group, two in the NE-RIF group, and three in the control group. The study employed a combination of advanced techniques. Single-cell RNA sequencing (scRNA-seq) was utilized to capture comprehensive transcriptomic profiles at the single-cell level, providing insights into gene expression patterns within specific cell types. Scanning and transmission electron microscopy were employed to visualize ultrastructural details of the endometrial tissue, while hematoxylin and eosin staining facilitated the examination of tissue morphology and cellular composition. Immunohistochemistry techniques were also applied to detect and localize specific protein markers relevant to endometrial receptivity and function.ResultsThrough comparative analysis of differentially expressed genes among these groups and KEGG pathway analysis, the TE-RIF group exhibited notable dysregulations in the TNF and MAPK signaling pathways, which are pivotal in stromal cell growth and endometrial receptivity. Conversely, in the NE-RIF group, disturbances in energy metabolism emerged as a primary contributor to reduced endometrial receptivity. Additionally, using CellPhoneDB for intercellular communication analysis revealed aberrant interactions between epithelial and stromal cells, impacting endometrial receptivity specifically in the TE-RIF group.ConclusionOverall, our findings provide valuable insights into the heterogeneous molecular pathways and cellular interactions associated with RIF in different endometrial conditions. These insights may pave the way for targeted therapeutic interventions aimed at improving endometrial receptivity and enhancing reproductive outcomes in patients undergoing ART. Further research is warranted to validate these findings and translate them into clinical applications for personalized fertility treatments.Trial registrationNot applicable.

Severe Heart Failure after Using Bortezomib in a Patient with Multiple Myeloma and Cardiac Amyloidosis of Normal Wall Thickness.

Severe Heart Failure after Using Bortezomib in a Patient with Multiple Myeloma and Cardiac Amyloidosis of Normal Wall Thickness.

Visual Cortical Thickness Increases with Prolonged Artificial Vision Restoration.

The Argus II retinal prosthesis restores visual perception to late blind patients. It has been shown that structural changes occur in the brain due to late-onset blindness, including cortical thinning in visual regions of the brain. Following vision restoration, it is not yet known whether these visual regions are reinvigorated and regain a normal cortical thickness or retain the diminished thickness from blindness. We evaluated the cortical thicknesses of ten Argus II Retinal Prostheses patients, ten blind patients, and thirteen sighted participants. The Argus II patients on average had a thicker left Cuneus Cortex and Lateral Occipital Cortex relative to the blind patients. The duration of the Argus II use (time since implant in active users) significantly partially correlated with thicker visual cortical regions in the left hemisphere. Furthermore, in the two case studies (scanned before and after implantation), the patient with longer device use (44.5 months) had an increase in the cortical thickness of visual regions, whereas the shorter-using patient did not (6.5 months). Finally, a third case, scanned at three time points post-implantation, showed an increase in cortical thickness in the Lateral Occipital Cortex between 43.5 and 57 months, which was maintained even after 3 years of disuse (106 months). Overall, the Argus II patients' cortical thickness was on average significantly rejuvenated in two higher visual regions and, patients using the implant for a longer duration had thicker visual regions. This research raises the possibility of structural plasticity reversing visual cortical atrophy in late-blind patients with prolonged vision restoration.

Phenotypic Spectrum of Subclinical Sarcomere-Related Hypertrophic Cardiomyopathy and Transition to Overt Disease.

Genetic hypertrophic cardiomyopathy (HCM) is classically caused by pathogenic/likely pathogenic variants in sarcomere genes (G+). Currently, HCM is diagnosed if there is unexplained left ventricular (LV) hypertrophy with LV wall thickness ≥15 mm in probands or ≥13 mm in at-risk relatives. Although LV hypertrophy is a key feature, this binary metric does not encompass the full constellation of phenotypic features, particularly in the subclinical stage of the disease. Subtle phenotypic manifestations can be identified in sarcomere variant carriers with normal LV wall thickness, before diagnosis with HCM (G+/LV hypertrophy-; subclinical HCM). We conducted a systematic review to summarize current knowledge about the phenotypic spectrum of subclinical HCM and factors influencing penetrance and expressivity. Although the mechanisms driving the development of LV hypertrophy are yet to be elucidated, activation of profibrotic pathways, impaired relaxation, abnormal Ca2+ signaling, altered myocardial energetics, and microvascular dysfunction have all been identified in subclinical HCM. Progression from subclinical to clinically overt HCM may be more likely if early phenotypic manifestations are present, including ECG abnormalities, longer mitral valve leaflets, lower global E' velocities on Doppler echocardiography, and higher serum N-terminal propeptide of B-type natriuretic peptide. Longitudinal studies of variant carriers are critically needed to improve our understanding of penetrance, characterize the transition to disease, identify risk predictors of phenotypic evolution, and guide the development of novel treatment strategies aimed at influencing disease trajectory.

Anterior segment optical coherence tomography for superficial keratectomy

PurposeTo report the use of anterior segment optical coherence tomography (AS-OCT) for superficial keratectomy (SK) in anterior corneal opacity. MethodsThe characteristics of 43 eyes (39 patients) with various lesions responsible for anterior corneal opacity were included in this retrospective non-comparative study. AS-OCT was performed on all eyes before surgery. The thickness of corneal opacity and the underlying healthy stroma were measured. SK was performed on each individual. ResultsFour types of anterior corneal opacity were evaluated, including corneal degeneration (26/43), Reis-Bücklers corneal dystrophy (8/43), alkali burn (1/43) and corneal tumors (8/43). Based on AS-OCT images, all eyes showed abnormal hyper-reflective signals in the superficial cornea to less than one-third of the normal corneal thickness in the deepest corneal opacity. All 43 eyes underwent an SK procedure. In addition, 1 eye with alkali burns and 7 eyes with corneal tumors were combined with amniotic membrane transplantation. All eyes restored transparency without significant complications. ConclusionAS-OCT is a valuable method for objective preoperative and noninvasive assessments of anterior corneal opacities and is useful for guiding SK.

Long-Term Follow-Up of Pediatric Excimer Laser-Assisted Penetrating Keratoplasty for Congenital Stromal Corneal Dystrophy.

The purpose of this study was to highlight characteristic clinical and microscopic findings and report the long-term follow-up of pediatric excimer laser-assisted penetrating keratoplasty (excimer-PKP) for congenital stromal corneal dystrophy (CSCD). A 2-year-old Greek child presented with CSCD at our department. Clinical examination showed bilateral flake-like whitish corneal opacities affecting the entire corneal stroma up to the limbus. Genetic testing identified a mutation of the decorin gene (c.962delA). The variant was not present in the parents and represented a de novo mutation. The uncorrected visual acuity was 20/100 in both eyes. Excimer-PKP (8.0/8.1 mm) was performed on the right eye at the age of 2.5 years and on the left eye at the age of 3 years. Postoperatively, alternating occlusion treatment was performed. The light microscopic examination demonstrated a disorganized extracellular matrix of the corneal stroma characterized by a prominent irregular arrangement of stromal collagen lamellae with large interlamellar clefts containing ground substance, highlighted by periodic acid-Schiff- and Alcian blue-positive reaction detecting acid mucopolysaccharides. Electron microscopy showed disorganization and caliber variation of collagen lamellae and thin filaments within an electron-lucent ground substance. The postoperative course was unremarkable. Both grafts remained completely clear 14 years postoperatively. Corneal tomography showed moderate regular astigmatism with normal corneal thickness. The corrected distance visual acuity was 20/25 in both eyes. Excimer-PKP for CSCD might be associated with excellent long-term results and a good prognosis, particularly when the primary surgery is performed at a very young age. However, this requires close postoperative follow-up examinations by an experienced pediatric ophthalmologist to avoid severe amblyopia.

Caffeic acid phenethyl ester attenuates Enterococcus faecalis infection in vivo: antioxidants and NF-κB have a protective role against stomach damage.

The mammalian gastrointestinal tract hosts a significant microbial symbiont community, an intriguing feature of this complex organ system. This study aimed to investigate the anti-inflammatory, antioxidant, and protective effects of caffeic acid phenethyl ester (CAPE) against Enterococcus faecalis infection in the stomach at a dose of 106 CFU in Swiss mice. A total of 30 mice were randomly assigned to three groups of ten mice each. Group I was the negative control, Group II was infected orally with E. faecalis for 18 days, and Group III was infected with E. faecalis and treated with CAPE orally at a daily dose of 4 mg/kg for 18 days. We assessed the antioxidant activities of stomach homogenate and the immunohistochemical expressions of the transcription factor nuclear factor kappa B (NF-κB) and proliferating cell nuclear antigen (PCNA). Histopathological examination was performed on the stomachs of all mice. Group II had decreased levels of antioxidant activity and positive expressions of NF-κB and PCNA. Histological observations revealed an increase in mucosal and glandular thickness compared with Group I. Group III, treated with CAPE, showed a significant increase in antioxidant activities and a significant decrease in NF-κB and PCNA immunoreactivities compared with Group II. In addition, Group III showed restoration of the normal thickness of the non-glandular and glandular parts of the stomach. Our results revealed that E. faecalis infection has damaging effects on the stomach and proved that CAPE has promising protective, anti-inflammatory, and antioxidant effects against E. faecalis. Further studies may investigate the potential therapeutic effects of CAPE against E. faecalis infection.