Ocular manifestations of the genetic causes of focal and segmental glomerulosclerosis.

Genetic forms of focal and segmental glomerulosclerosis (FSGS) often have extra-renal manifestations. This study examined FSGS-associated genes from the Genomics England Renal proteinuria panel for reported and likely ocular features. Thirty-two of the 55 genes (58%) were associated with ocular abnormalities in human disease, and a further 12 (22%) were expressed in the retina or had an eye phenotype in mouse models. The commonest genes affected in congenital nephrotic syndrome (NPHS1, NPHS2, WT1, LAMB2, PAX2 but not PLCE1) may have ocular manifestations . Many genes affected in childhood-adolescent onset FSGS (NPHS1, NPHS2, WT1, LAMB2, SMARCAL1, NUP107 but not TRPC6 or PLCE1) have ocular features. The commonest genes affected in adult-onset FSGS (COL4A3-COL4A5, GLA ) have ocular abnormalities but not the other frequently affected genes (ACTN4, CD2AP, INF2, TRPC6). Common ocular associations of genetic FSGS include cataract, myopia, strabismus, ptosis and retinal atrophy. Mitochondrial forms of FSGS (MELAS, MIDD, Kearn's Sayre disease) are associated with retinal atrophy and inherited retinal degeneration. Some genetic kidney diseases (CAKUT, ciliopathies, tubulopathies) that result in secondary forms of FSGS also have ocular features. Ocular manifestations suggest a genetic basis for FSGS, often help identify the affected gene, and prompt genetic testing. In general, ocular abnormalities require early evaluation by an ophthalmologist, and sometimes, monitoring or treatment to improve vision or prevent visual loss from complications. In addition, the patient should be examined for other syndromic features and first degree family members assessed.

Oxygen-doped antimonene monolayer as a promising anchoring material for lithium-sulfur batteries: a first-principles study.

To effectively mitigate the dissolution of lithium polysulfides (Li2Sx) in the electrolyte, the search for an effective anchoring material is crucial. In this study, we employed density functional theory (DFT) computations to investigate the adsorption behavior of long-chain Li2Sx species on an O-doped antimonene monolayer. Our results demonstrate that the O-doped antimonene mono-layer exhibits stronger adsorption for long-chain Li2Sx species compared to the pristine antimonene monolayer, resulting in enhanced adsorption energies. This improved adsorption effectively curtails the dissolution of lithium polysulfides and preserves the structural integrity of the Li2Sx species. The charge transfer analysis also revealed the strong chemical interactions between the Li2Sx species and the O-doped antimonene monolayer. These findings suggest that the O-doped anti-monene monolayer holds promise as an effective anchoring material for enhancing the performance of lithium-sulfur batteries.

A comparison of the ocular features in Pierson and Alport syndrome: a case report and literature review.

BACKGROUND: Pierson syndrome and X-linked Alport syndrome result from pathogenic variants in LAMB2 and COL4A5, respectively, and both affect basement membranes in the kidney and the eye. This study describes the ocular features in an individual with a homozygous LAMB2 pathogenic variant and compares the reported abnormalities in Pierson syndrome with those in Alport syndrome. METHODS: A 28-year-old man who developed kidney failure 10 years previously and subsequently had an atrial septal defect repair was suspected of having genetic kidney disease on the basis of his likely diagnosis of Focal and Segmental Glomerulosclerosis (FSGS), his young age at presentation, and his cardiac anomaly. He then underwent Whole Exome Sequencing and a formal ophthalmological examination. RESULTS: The patient was found to have a homozygous Likely Pathogenic missense variant (p.(Arg1719Cys)) in LAMB2 consistent with the diagnosis of Pierson syndrome. He had normal visual acuity, normal optic globe and cornea size, and normal lens appearance on direct examination. Upon further testing, his cornea demonstrated central thinning. There was also increased corneal endothelial pleomorphism, a reduced foveal reflex, and a blunted foveal curvature, similar to the features seen in X-linked Alport syndrome. CONCLUSION: Our patient had a later onset form of Pierson syndrome or "FSGS type 5, with or without ocular abnormalities," consistent with his "milder" LAMB2 missense variant. The resemblance of the ocular features in Pierson syndrome and X-linked Alport syndrome suggests that mutations in LAMB2 and COL4A5 have similar effects on basement membranes and the pathogenesis of ocular damage.

Diagnostic accuracy of brain natriuretic peptide and N-terminal-pro brain natriuretic peptide to detect complications of cardiac transplantation in adults: A systematic review and meta-analysis.

BACKGROUND: We aimed to evaluate the utility of BNP and NT-proBNP in identifying adverse recipient outcomes following cardiac transplantation. METHODS: We searched MEDLINE (Ovid), Embase (Ovid), and the Cochrane Library from inception to February 2023. We included studies reporting associations between BNP or NT-proBNP and adverse outcomes following cardiac transplantation in adults. We calculated standardised mean differences (SMD) with 95% confidence intervals (CI); or confusion matrices with sensitivities and specificities. Where meta-analysis was inappropriate, studies were analysed descriptively. RESULTS: Thirty-two studies involving 2,297 cardiac transplantation recipients were included. We report no significant association between BNP or NT-proBNP and significant acute cellular rejection of grade 3A or higher (SMD 0.40, 95% CI -0.06-0.86) as defined by the latest 2004 International Society for Heart and Lung Transplantation Guidelines. We also report no strong associations between BNP or NT-proBNP and cardiac allograft vasculopathy or antibody mediated rejection. CONCLUSION: In isolation, serum BNP and NT-proBNP lack sufficient sensitivity and specificity to reliably predict adverse outcomes following cardiac transplantation.

Adams-Oliver Syndrome: Vestigial Tail and Genetics Update.

Adams-Oliver syndrome is a well-recognized autosomal dominant disorder for which mutations in six genes are etiologic, but account for only one-third of the cases. We report a patient with two genetic disorders; Adams-Oliver and Xp22.33 deletion syndromes, as well as a vestigial pseudotail. The presence of a pseudotail has not previously been reported in either of these genetic conditions. Absence of a molecular etiology underlying Adams-Oliver syndrome confirms that there are additional genetic causes to be identified.

Area Deprivation Index and Rurality in Relation to Financial Toxicity among Breast Cancer Surgical Patients: Retrospective Cross-Sectional Study of Geospatial Differences in Risk Profiles.

BACKGROUND: Financial toxicity (FT) depicts the burden of cancer treatment costs and is associated with lower quality of life and survival in breast cancer patients. We examined the relationship between geospatial location, represented by rurality and Area Deprivation Index (ADI), and risk of FT. STUDY DESIGN: A single-institution, cross-sectional study was performed on adult female surgical breast cancer patients using survey data retrospectively collected between January 2018 and June 2019. Chart reviews were used to obtain patient information, and FT was identified using the COmprehensive Score for Financial Toxicity questionnaire, which is a validated instrument. Patients' home addresses were used to determine rurality using the Rural Urban Continuum Codes and linked to national ADI score. ADI was analyzed in tertiles for univariate statistical analyses, and as a continuous variable to develop multivariable logistic regression models to evaluate the independent associations of geospatial location with FT. RESULTS: A total of 568 surgical breast cancer patients were included. Univariate analyses found significant differences across ADI tertiles with respect to race/ethnicity, marital status, insurance type, education, and rurality. In multivariable analysis, advanced cancer stage (odds ratio [OR] 2.26, 95% CI 1.15 to 4.44) and higher ADI (OR 1.012, 95% CI 1.01 to 1.02) were associated with worsening odds of FT. Increasing age (continuous) (OR 0.976, 95% CI 0.96 to 0.99), married status (vs unmarried) (OR 0.46, 95% CI 0.30 to 0.70), and receipt of bilateral mastectomy (OR 0.56, 95% CI 0.32 to 0.96) were protective of FT. CONCLUSIONS: FT was significantly associated with areas of greater socioeconomic deprivation as measured by the ADI. However, in adjusted analyses, rurality was not significantly associated with FT. ADI can be useful for preoperative screening of at-risk populations and the targeted deployment of community-based interventions to alleviate FT.

Quality Improvement Intervention Bundle Using the PUPPIES Acronym Reduces Pressure Injury Incidence in Critically Ill Patients.

OBJECTIVE: To assess whether a quality improvement bundle focusing on prevention is effective in reducing pressure injury (PI) incidence or costs or delaying PI onset. METHODS: A combined retrospective/prospective cohort study was performed at an academic tertiary care ICU on all patients admitted with a length of stay longer than 48 hours and Braden scale score of 18 or less. Following retrospective data collection (preintervention), a multimodal quality improvement bundle focusing on PI prevention through leadership initiatives, visual tools, and staff/patient education was developed, and data were prospectively collected (postintervention). RESULTS: Statistical and cost analyses were performed comparing both cohorts. A total of 930 patients met the study inclusion criteria (preintervention, n = 599; postintervention, n = 331). A significant decrease in PI incidence was observed from preintervention (n = 37 [6%]) to postintervention (n = 7 [2%], P = .005). This led to a predicted yearly cost savings of $826,810. Further, a significant increase in time to PI occurrence was observed from preintervention (mean, 5 days) to postintervention (mean, 9 days; P = .04). Staff were compliant with the bundle implementation 80% of the time. CONCLUSIONS: Implementation of the quality improvement bundle focused on multimodal PI prevention in critically ill patients led to a significant reduction in PI incidence, increased time to PI occurrence, and was cost-effective.

To survive or to thrive? China's luxury hotel restaurants entering O2O food delivery platforms amid the COVID-19 crisis.

COVID-19 presents luxury hotels with an unenviable task of maneuvering to secure survival. One of the contingency measures of China's five-star hotels is to salvage revenues by entering online-to-offline (O2O) food delivery platforms. However, both opportunities and risks will ensue. Study 1 has content analyzed customer reviews on the largest O2O food delivery platform in China to probe the key factors of concern. The results show that taste, freshness, and brand credibility remain salient, as in dine-in experiences, while packaging and delivery quality emerge as a result of the integration of the O2O platform, and hygiene due to the COVID-19 pandemic. Interestingly, interaction quality between restaurant staff and customers still plays significant roles with the online channel. Study 2 has further deepened the understanding of luxury restaurants' O2O services through semi-structured interviews with F&B professionals. The results have paved the way for hotel operators to employ tactics on O2O platforms.

Preferences of Transgender and Gender-Nonconforming Persons in Gender-Confirming Surgical Care: A Cross-Sectional Study.

INTRODUCTION: Increased awareness for transgender and gender-nonconforming individuals may lead to increased demand for surgical interventions in gender-confirming care. However, limited literature exists regarding transgender and gender-nonconforming preferences and experiences with medical or surgical care. The authors aim to characterize the medical and surgical care sought by this population, as well as their surgical preferences, motivations, and barriers to care. METHODS: An online questionnaire about opinions and personal experiences with medical and surgical care during gender transition was publicized via regional online social networking forums in Connecticut and surrounding areas catering to transgender communities. RESULTS: Responses were received from 313 participants. Participants were 97% male gender at birth and 92% white with an average (SD) age of 51.6 (13.5) years. Fifty-nine percent identified as male-to-female transgender and 20% as gender nonconforming. Respondents were aware of their gender identity at a mean (SD) age of 9.6 (9.0) years, but did not begin transitioning until a mean (SD) age of 38.9 (20.8) years, with gender-nonconforming respondents choosing to transition at a significantly younger age as compared with transgender respondents (29.8 vs 41.4 years; P = 0.0061, unpaired t test). Only 42% of all respondents, with a significantly greater number of transgender as opposed to gender-nonconforming individuals, had previously met with a physician to discuss transitioning (49% vs 21%, P = 0.002, χ test). Eight percent of the study population had undergone gender confirmation surgery (GCS), 52% were interested in GCS, and 40% were not interested in GCS. Primary motivation for GCS included discomfort in one's current body (28%), and barriers to GCS included cost (40%) and reactions of family (40%), partners (32%), and friends (25%). CONCLUSIONS: Transgender and gender-nonconforming individuals lack medical support for gender transition, with fewer than half of survey respondents reporting a prior meeting with a physician to discuss transitioning. The reported perspectives offer important insight into transgender preferences that should act as the basis of future efforts to improve the efficacy of gender-confirming care.

A 3D Mammometric Comparison of Implant-Based Breast Reconstruction With and Without Acellular Dermal Matrix (ADM).

This retrospective study utilizes 3D imaging and mammometrics to compare implant-based breast reconstruction with and without the use of ADM. Previous studies have suggested improved aesthetic outcomes with the use of ADM, but none have been able to quantify this difference. Images were obtained at early and late time points following the expander-implant exchange procedure. Measurements included the point of maximum projection, the superior, inferior, medial and lateral volumetric distribution, and the distance from the point of maximum projection to the inframammary fold along the breast meridian. The patients' demographic information, implant size, and complication rate between the two cohorts were similar. In the early post-operative period, the patients with ADM demonstrated higher medial pole volume; however, this difference did not persist in the late post-operative period. Patients with ADM demonstrated a small but statistically significant greater point of maximum projection and length of lower pole curvature in comparison with the non-ADM cohort. In summary, the results of this study demonstrate improved mammometric measurements when ADM is used in implant-based breast reconstruction, supporting superior aesthetic outcomes in early and late post-operative time points. LEVEL OF EVIDENCE III: This journal requires that authors assign a level of evidence to each article. For a full description of these Evidence-Based Medicine ratings, please refer to the Table of Contents or the online Instructions to Authors www.springer.com/00266 .

Postoperative Edema Resolution following Rhinoplasty: A Three-Dimensional Morphometric Assessment.

BACKGROUND: The final result of rhinoplasty may be masked for several months after surgery because of postoperative edema; however, no objective evidence supports this time estimate. The purpose of this study was to three-dimensionally quantify the decrease in postsurgical nasal edema following rhinoplasty over the first postoperative year. METHODS: This was a retrospective, three-dimensional, morphometric study of primary, open rhinoplasty patients. Subjects with at least three postoperative three-dimensional images up to 1 year were included. Patients were excluded for closed or secondary procedures or cleft deformities. Images were assessed using three-dimensional stereophotogrammetry (Vectra) and volumetric analysis (Geomagic). Baseline nasal volume (time 0) occurred at the first postoperative visit at 1 to 2 weeks. All subsequent nasal volume measurements were calculated as a percentage of baseline values. Data points from all patients were pooled, and a six-point moving average was used to create an inverse function line of best fit. RESULTS: Forty patients were included, with 146 three-dimensional photographs quantified. The equation for the inverse function line of best fit of the six-point moving average was y = 1.484 (1/x) + 0.844 (R = 0.85, p < 0.01). According to this equation, approximately two-thirds of edema resolves within the first month, 95 percent after 6 months, and 97.5 percent after 1 year. A plateau is reached at 84.4 percent of the original postoperative volume. CONCLUSIONS: This study provides quantitative evidence to predict decrement of rhinoplasty edema with time. Three-dimensional morphometric assessment demonstrated a two-thirds decrease in edema at 1 month, a 95 percent decrease at 6 months, and a 97.5 percent decrease at 1 year. CLINICAL QUESTION/LEVEL OF EVIDENCE: Therapeutic, IV.

Oncologic Imaging in Patients Undergoing Breast Reduction.

Supplemental Digital Content is available in the text.

Promise and Limitations of Big Data Research in Plastic Surgery.

BACKGROUND: The use of "Big Data" in plastic surgery outcomes research has increased dramatically in the last 5 years. This article addresses some of the benefits and limitations of such research. METHODS: This is a narrative review of large database studies in plastic surgery. RESULTS: There are several benefits to database research as compared with traditional forms of research, such as randomized controlled studies and cohort studies. These include the ease in patient recruitment, reduction in selection bias, and increased generalizability. As such, the types of outcomes research that are particularly suited for database studies include determination of geographic variations in practice, volume outcome analysis, evaluation of how sociodemographic factors affect access to health care, and trend analyses over time. The limitations of database research include data which are limited only to what was captured in the database, high power which can cause clinically insignificant differences to achieve statistical significance, and fishing which can lead to increased type I errors. The National Surgical Quality Improvement Project is an important general surgery database that may be useful for plastic surgeons because it is validated and has a large number of patients after over a decade of collecting data. The Tracking Operations and Outcomes for Plastic Surgeons Program is a newer database specific to plastic surgery. CONCLUSIONS: Databases are a powerful tool for plastic surgery outcomes research. It is critically important to understand their benefits and limitations when designing research projects or interpreting studies whose data have been drawn from them. For plastic surgeons, National Surgical Quality Improvement Project has a greater number of publications, but Tracking Operations and Outcomes for Plastic Surgeons Program is the most applicable database for plastic surgery research.