Directed differentiation of functional corticospinal-like neurons from endogenous SOX6+/NG2+ cortical progenitors.

Corticospinal neurons (CSN) centrally degenerate in amyotrophic lateral sclerosis (ALS), along with spinal motor neurons, and loss of voluntary motor function in spinal cord injury (SCI) results from damage to CSN axons. For functional regeneration of specifically affected neuronal circuitry in vivo , or for optimally informative disease modeling and/or therapeutic screening in vitro , it is important to reproduce the type or subtype of neurons involved. No such appropriate in vitro models exist with which to investigate CSN selective vulnerability and degeneration in ALS, or to investigate routes to regeneration of CSN circuitry for ALS or SCI, critically limiting the relevance of much research. Here, we identify that the HMG-domain transcription factor Sox6 is expressed by a subset of NG2+ endogenous cortical progenitors in postnatal and adult cortex, and that Sox6 suppresses a latent neurogenic program by repressing inappropriate proneural Neurog2 expression by progenitors. We FACS-purify these genetically accessible progenitors from postnatal mouse cortex and establish a pure culture system to investigate their potential for directed differentiation into CSN. We then employ a multi-component construct with complementary and differentiation-sharpening transcriptional controls (activating Neurog2, Fezf2 , while antagonizing Olig2 with VP16:Olig2 ). We generate corticospinal-like neurons from SOX6+/NG2+ cortical progenitors, and find that these neurons differentiate with remarkable fidelity compared with corticospinal neurons in vivo . They possess appropriate morphological, molecular, transcriptomic, and electrophysiological characteristics, without characteristics of the alternate intracortical or other neuronal subtypes. We identify that these critical specifics of differentiation are not reproduced by commonly employed Neurog2 -driven differentiation. Neurons induced by Neurog2 instead exhibit aberrant multi-axon morphology and express molecular hallmarks of alternate cortical projection subtypes, often in mixed form. Together, this developmentally-based directed differentiation from genetically accessible cortical progenitors sets a precedent and foundation for in vitro mechanistic and therapeutic disease modeling, and toward regenerative neuronal repopulation and circuit repair.

Comparing the effects of positional versus myofascial release of gluteus medius to manage patellofemoral pain syndrome: single blinded randomized clinical trial.

OBJECTIVE: To determine the effects of positional release technique in comparison to myofascial release technique on gluteus medius trigger point along with exercises to manage patellofemoral pain syndrome. METHODS: The single-blind, two-arm, randomised clinical trial was conducted at the Department of Physiotherapy, Sindh Institute of Physical Medicine, Karachi, from December 7, 2020, to March 24, 2021, and comprised patellofemoral pain syndrome of either gender with gluteus medius trigger point. They were randomly allocated to positional release technique group A and myofascial release technique group B. The intervention comprised 3 sessions per week for 6 weeks for a total of 18 sessions, with each session lasting 45 minutes. Function through anterior knee pain scale, pain through visual analogue scale, strength via hand-held dynamometer, and quality of life via World Health Organisation quality of life brief questionnaire were assessed alongside pressure pain threshold via algometer which was taken as the gluteus medius trigger point. All measurements were taken at baseline and 6 week post-intervention. Data was analysed using SPSS 21. RESULTS: Of the 64 participants, 38(59.4%) were females and 26(40.6%) were males. There were 32(50%) subjects in group A with mean age 29.50±5.84 years and 32(50%) in group B with mean age 29.50±5.43 years (p>0.05). Both the groups showed a significant reduction in pain, improvement in function, pressure pain threshold, strength, and quality of life (p;lt;0.05). Intergroup comparisons revealed no significant differences (p>0.05). CONCLUSIONS: Treating myofascial trigger points of gluteus medius muscle, using either positional release technique or myofascial release technique together with exercise therapy was found to be equally beneficial. Clinical Trial gov ID: NCT04667091.

Association of Cardiovascular Disease in Patients with Mycosis Fungoides and Sézary Syndrome Compared to a Matched Control Cohort.

Mycosis fungoides/Sézary syndrome (MF/SS) produces a low-grade chronic inflammatory state that may be associated with an increased risk of cardiovascular (CV) events, as seen in other chronic, systemic dermatologic diseases. To assess this association, a retrospective, cross-sectional study was designed in which 421 patients with a biopsy-proven diagnosis of MF/SS were compared with a control cohort of 4,210 age-, gender-, and race-matched patients randomly selected from the National Health and Nutritional Evaluation Survey database. The MF/SS cohort had a 14% prevalence of CV events, which was not statistically different from the control population's prevalence of 13%. In the MF/SS cohort, a multivariable logistic regression model showed that older patients (OR = 1.05 for each year of age, 95% confidence interval = 1.02-1.07) and those diagnosed with hypertension (OR = 3.40, 95% confidence interval = 1.71-6.75) had a higher risk of a CV event (P < 0.001). Risk factors such as gender, race, smoking, diabetes, and obesity were not significantly associated with CV events. Findings suggest that in the MF/SS population, advancing age and hypertension are risk factors for CV events, requiring clinical recognition and management. In addition, further research is needed to understand the complex interplay of how chronic inflammation in MF/SS impacts the immune development of CV disease.

Economic Analysis of Induction versus Elective Cesarean in Term Nulliparas with Supermorbid Obesity.

OBJECTIVE: We sought to evaluate the economic benefit of the induction of labor compared with elective cesarean delivery in individuals with supermorbid obesity (body mass index 60 kg/m2 or greater) at term. STUDY DESIGN: We developed an economic analysis model to compare induction of labor with elective cesarean delivery in nulliparous individuals with supermorbid obesity at term. The primary outcome was the total cost per strategy from a health system perspective with elective cesarean delivery as a reference group. Pregnancy outcomes for the index and subsequent pregnancies were considered. When available, probabilities of pregnancy outcomes were extracted from our institutions. Rare pregnancy outcomes, relative risks, and costs were derived from the literature. All costs in this analysis were inflated to 2022 USD (U.S. dollar). To determine the robustness of the decision model, we conducted one-way sensitivity analyses by changing point estimates of variables. We then performed a probabilistic sensitivity analysis using Monte Carlo simulation repeating 1,000 times to test the robustness of the results in the setting of simultaneous changes in probabilities, relative risks, and costs. RESULTS: In the base-case analysis, assuming that 72.7% of nulliparous individuals undergoing induction of labor would have a cesarean delivery, induction of labor would cost $41,084 compared with $40,742 for elective cesarean delivery, resulting in a higher cost of $342 per nulliparous individuals with supermorbid obesity. In a sensitivity analysis, we found that induction of labor compared with elective cesarean is less economical if the probability of cesarean delivery after induction of labor exceeds 71%. Monte Carlo simulation suggests that elective cesarean delivery was the preferred cost-beneficial strategy with a frequency of 53.5%. CONCLUSION: Among our patient population, induction of labor was less economical compared with elective cesarean delivery at term for nulliparous individuals with supermorbid obesity. KEY POINTS: · The prevalence of obesity in the United States continues to rise.. · Morbid obesity compared with normal weight is associated with increased risks of adverse pregnancy outcomes.. · Induction of labor was less economical compared with elective cesarean delivery at term for nulliparous individuals..

Adverse Events and Compliance Among Inflammatory Bowel Disease Patients Treated With Home- vs Office-Based Biologic Infusions.

BACKGROUND: Biologic medications are a common therapy for those with inflammatory bowel disease (IBD). There are limited data on the outcomes of home-based biologic infusions for patients with IBD. The aim of this study was to compare the safety and efficacy of biologic infusions for IBD patients who receive either home- or office-based administration. METHODS: Patients receiving infliximab or vedolizumab were analyzed retrospectively over a period of 152 weeks. Survival free of major adverse events including delayed infusion reaction, steroid initiation, drug discontinuation, or IBD-related emergency department visits, admission, and surgery were compared using a Kaplan-Meier curve. Individual adverse events, infusion-.related quality measures, and markers of patient adherence were analyzed. RESULTS: Adverse event-free survival was greater among those receiving home-based infusion (n = 154) compared with office-based infusion (n = 133). The office infusion cohort had higher rates of delayed infusion reactions (4 vs 0), IBD-related surgery (6 vs 0), and drug discontinuation (44 vs 35); this was a sicker cohort of patients compared with those in the home infusion group. Home infusion patients were less likely to receive correct weight-based dosing for infliximab (71.7% vs 89.3%), obtain labs for drug monitoring (53.2% vs 71.4%), and adhere to routine clinic visits (37.9% vs 58.1%). CONCLUSIONS: The home-based infusion of biologics for IBD appears safe with lower rates of major adverse events compared with office-based infusions. However, those receiving home infusion were less likely to receive correct weight-based dosing for infliximab and were poorly adherent to routine follow-up.

There are higher rates of adverse events among inflammatory bowel disease patients infused with biologics in the office rather than at home. The quality of care delivered and patient adherence to follow-up is reduced among those receiving home infusions.

Disparities in Eye Care Utilization by Self-Reported Vision Difficulty and Diabetes Status in the United States.

PURPOSE: To assess differences in eye care utilization by vision difficulty (VD), diabetes status, and sociodemographic characteristics for American adults. METHODS: The analysis pooled cross-sectional data from the National Health Interview Survey (2010-2018) from US adults ≥ 18 years. The outcome measure was eye care utilization in the past year. The primary independent variable included four groups: no VD or diabetes, only diabetes, only VD, and diabetes and VD. VD was defined as self-reported difficulty seeing even with glasses or contacts. Diabetic status was defined as ever receiving this diagnosis by a health professional. Multivariable logistic regression analyses examined associations between eye care utilization, VD, diabetic status, and sociodemographic characteristics. RESULTS: Of the 284,599 adults included in this study, the majority were female (55%), White (73%), and non-Hispanic (84%). In regression analysis, as compared to adults without diabetes or VD, adults with both diabetes and VD had the greatest utilization (OR = 2.49, 99% CI = 2.18-2.85). Females had higher utilization than men (OR = 1.45, 99% CI = 1.41-1.50). Higher levels of education was associated with greater utilization (OR = 1.82, 99% CI = 1.72-1.92). White and American Indian adults without diabetes had higher utilization compared to other races (OR = 1.17, 99% CI = 1.12-1.24, 0.98-1.39). CONCLUSION: While adults with VD and diabetes are better connected to eye care, significant eye care disparities persist for marginalized groups in the U.S. Identifying and understanding these disparities and eliminating barriers to care is critical to better support all patient populations.

Potential blindness from nutritional xerophthalmia in autistic patients.

BACKGROUND: Vitamin A is vital to retinal rod function and epithelial cell differentiation. Although uncommon in the developed world, vitamin A deficiency (VAD) secondary to poor diets or gastrointestinal disease has been reported and can lead to xerophthalmia, which is characterized by night blindness and a spectrum of ocular surface changes. Patients with autism spectrum disorder have been shown to have restrictive diets secondary to sensory issues leading to rejection of foods except for those of certain color or texture. METHODS: We present a case series of 6 pediatric patients with autism who developed varying degrees of xerophthalmia due to VAD, which resulted from restrictive eating. RESULTS: All patients presented with a history of eye irritation that was not relieved by antibiotic or allergy eye drops. Further questioning revealed they had restrictive diets consisting of only or mostly white and tan foods, and serum vitamin A testing confirmed severe VAD. Most stages of xerophthalmia were completely reversed with vitamin A supplementation, but in 2 patients more advanced xerophthalmia resulted in irreversible blindness and ocular damage. CONCLUSIONS: Both pediatricians and pediatric eye care providers must be vigilant for VAD as an etiology of eye irritation, photophobia, or new-onset visual impairment in autistic children. A review of the child's diet must be implemented as a standard part of routine history taken in this vulnerable population. Early identification and vitamin A supplementation can prevent irreversible ocular compromise and vision loss.

Population-Based Analysis of National Comprehensive Cancer Network (NCCN) Guideline Adherence for Patients with Anal Squamous Cell Carcinoma in California.

PURPOSE: We analyzed adherence to the National Comprehensive Cancer Network treatment guidelines for anal squamous cell carcinoma in California and the associated impacts on survival. METHODS: This was a retrospective study of patients in the California Cancer Registry aged 18 to 79 years with recent diagnoses of anal squamous cell carcinoma. Predefined criteria were used to determine adherence. Adjusted odds ratios and 95% confidence intervals were estimated for those receiving adherent care. Disease-specific survival (DSS) and overall survival (OS) were examined with a Cox proportional hazards model. RESULTS: 4740 patients were analyzed. Female sex was positively associated with adherent care. Medicaid status and low socioeconomic status were negatively associated with adherent care. Non-adherent care was associated with worse OS (Adjusted HR 1.87, 95% CI = 1.66, 2.12, p < 0.0001). DSS was worse in patients receiving non-adherent care (Adjusted HR 1.96, 95% CI = 1.56, 2.46, p < 0.0001). Female sex was associated with improved DSS and OS. Black race, Medicare/Medicaid, and low socioeconomic status were associated with worse OS. CONCLUSIONS: Male patients, those with Medicaid insurance, or those with low socioeconomic status are less likely to receive adherent care. Adherent care was associated with improved DSS and OS in anal carcinoma patients.

Genomic Alterations and Tumor Mutation Burden in Merkel Cell Carcinoma.

Importance: Merkel cell carcinoma (MCC) is a rare and highly aggressive cutaneous neuroendocrine carcinoma with increasing incidence. Cytotoxic chemotherapy and checkpoint inhibitors provide treatment options in the metastatic setting; however, there are no approved or standard of care targeted therapy treatment options. Objective: To identify actionable alterations annotated by the OncoKB database therapeutic evidence level in association with tumor mutation burden (TMB). Design, Setting, and Participants: This is a retrospective, cross-sectional study using data from the American Association for Cancer Research Genomics Evidence Neoplasia Information Exchange, a multicenter international cancer consortium database. Patients with MCC were enrolled in participating institutions between 2017 and 2022. Data from version 11.0 of the database were released in January 2022 and analyzed from April to June 2022. Main Outcomes and Measures: The main outcome was the percentage of patients with high TMB and OncoKB level 3B and 4 alterations. Results: A total of 324 tumor samples from 313 patients with MCC (107 women [34.2%]; 287 White patients [91.7%]; 7 Black patients [2.2%]) were cataloged in the database. The median (range) number of alterations was 4.0 (0.0-178.0), with a mean (SD) of 13.6 (21.2) alterations. Oncogenic alterations represented 20.2% of all alterations (862 of 4259 alterations). Tissue originated from primary tumor in 55.0% of patients (172 patients) vs metastasis in 39.6% (124 patients). TMB-high (≥10 mutations per megabase) was present in 26.2% of cases (82 patients). Next-generation sequencing identified 55 patients (17.6%) with a level 3B variation for a Food and Drug Administration-approved drug for use in a biomarker-approved indication or approved drug in another indication. An additional 8.6% of patients (27 patients) had a level 4 variation. Actionable alterations were more common among high TMB cases, with 37 of 82 patients (45.1%) harboring level 3 alterations compared with only 18 of 231 patients (7.8%) with low TMB. The most common level 3B gene variants included PIK3CA (12 patients [3.8%]), BRCA1/2 (13 patients [4.2%]), ATM (7 patients [2.2%]), HRAS (5 patients [1.6%]), and TSC1/2 (6 patients [1.9%]). The most common level 4 variants include PTEN (13 patients [4.1%]), ARID1A (9 patients [2.9%]), NF1 (7 patients [2.2%]), and CDKN2A (7 patients [2.2%]). Copy number alterations and fusions were infrequent. In 61.0% of cases (191 cases), a PanCancer pathway was altered, and 39.9% (125 cases) had alterations in multiple pathways. Commonly altered pathways were RTK-RAS (119 patients [38.0%]), TP53 (103 patients [32.9%]), cell cycle (104 patients [33.2%]), PI3K (99 patients [31.6%]), and NOTCH (93 patients [29.7%]). In addition, oncogenic DNA mismatch repair gene alterations were present in 8.0% of cases (25 patients). Conclusions and Relevance: In this cross-sectional retrospective study of alterations and TMB in MCC, a minority of patients had potentially actionable alterations. These findings support the investigation of targeted therapies as single agent or in combination with immunotherapy or cytotoxic chemotherapy in selected MCC populations.

Analyzing the Perspectives of Health Professionals and Legal Cannabis Users on the Treatment of Chronic Pain With Cannabidiol: Protocol for a Scoping Review.

BACKGROUND: Medical cannabis is one of the most commonly reported treatments for chronic pain. The wide acceptance and research in alternative medicine have put medical cannabis in the limelight, where researchers are widely examining its therapeutic benefits, including treatment of chronic pain. OBJECTIVE: The purpose of this scoping review is to provide an overview of the perspectives on cannabidiol as an alternative treatment for chronic pain among health professionals and legal cannabis users. METHODS: The framework of Arksey and O'Malley guides the design of this scoping review, and the elements reported use the recommended guidelines of the PRISMA-ScR (Preferred Reporting Items for Systematic Reviews and Meta-Analyses Extension for Scoping Reviews). A comprehensive literature search accessed the databases CINAHL Complete and MEDLINE via EBSCO, Australia/New Zealand Reference Centre, PsycINFO, Ovid Emcare, Wiley Online Library, Scopus, Informit New Zealand Collection, and Google Scholar for published literature, and then it was extended to include gray literature. Gray literature searches included searching the databases Australia/New Zealand Reference Centre, Informit New Zealand Collection, INNZ: Index New Zealand, ProQuest Dissertations & Theses Global, and AUT Tuwhera Research Repository, and the website nzresearch.org.nz. The studies included in this scoping review were assessed for eligibility for inclusion using the following criteria: published in English after 2000, conducted in New Zealand (NZ) or Australia, and aimed to investigate the perspectives of health professionals and medical cannabis users using interviews for data collection. Studies were screened for inclusion using Covidence, a software tool to filter search results, and the risk of bias was assessed using the Critical Appraisal Skills Programme tool. Although this is not a required step for scoping reviews, it added an element of strength to this scoping review. Data will be analyzed using thematic analysis guided by Braun and Clarke. The findings from the data analysis will be presented in a table, which will then inform the key themes for discussion. RESULTS: The database search started in October 2021 and was completed in December 2021. The total number of studies included in this review is 5 (n=5). Studies included were conducted in NZ or Australia and examined the perspectives using participant interviews. This scoping review is anticipated to be submitted for publication in December 2022. CONCLUSIONS: Using perspectives is a valuable tool to understand the challenges experienced by health professionals and medical cannabis users associated with medical cannabis treatment. Addressing these challenges through interventions that are highlighted through perspectives such as educating health professionals to increase access to medical cannabis in NZ may aid in policy reformulation for medical cannabis in the context of NZ. Thus, this scoping review highlights the importance of medical cannabis research and suggests recommendations to guide and inform medical cannabis policy in the context of NZ. INTERNATIONAL REGISTERED REPORT IDENTIFIER (IRRID): DERR1-10.2196/37697.

Self-Reported Vision Impairment and Food Insecurity in the US: National Health Interview Survey, 2011-2018.

PURPOSE: To determine if vision impairment (VI) is associated with food insecurity among the United States (US) adults. METHODS: This is a cross-sectional study of US adults ≥18 years below a threshold of 150% poverty from the National Health Interview Survey (NHIS), years 2011-2018. Outcome measures included food insecurity status, based on response to the NHIS adult (10-item) food insecurity tool, either as a binary (food secure or insecure) or ordinal (high, marginal, low, and very low) variable. VI was defined as self-reported trouble seeing, even when wearing glasses or contact lenses. Multivariable logistic regression analyses adjusted for potential confounders examined associations between VI and food insecurity. RESULTS: Participants (N = 62075) were majority female (57%), White (62%), and non-Hispanic (74%). Of them, 16% reported VI and 28% were food insecure. In fully adjusted logistic regression models, adults with VI had 216% higher odds (95% CI = 2.01-2.31) of being food insecure than adults without VI. Further, there was a dose-response relationship between VI and food insecurity noted in a multinomial model: VI predicted 159% higher risk of marginal food security (95% CI = 1.44-1.75), 197% higher risk of low food security (95% CI = 1.80-2.16), and 295% higher risk of very low food security (95% CI = 2.69-3.22), as compared to high food security. CONCLUSION: VI is associated with food insecurity, increasingly so among adults with highest levels of food insecurity in this national sample of low-income US adults. This data highlights the need for targeted interventions to address and reduce the burden of food insecurity among US adults with VI.

Vision difficulty and dementia: economic hardships among older adults and their caregivers.

Introduction: Limited research has examined the economic impact of vision difficulty (VD) and dementia on older adults and their caregivers. We aimed to determine whether older adults with VD and/or dementia, and their caregivers, face more economic hardships than their counterparts without VD or dementia. Methods: We used cross-sectional data from the 2015 National Health and Aging Trends Study (NHATS), a population-based survey of Medicare beneficiaries, linked to their family/unpaid caregivers from the National Study of Caregiving (NSOC). Regression models characterized the association of VD (self-report), dementia (survey and cognitive assessments), and co-occurring VD and dementia with debt, receiving financial help from relatives, government-based Supplemental Nutrition Assistance Program (SNAP), other food assistance, utility assistance, and caregiver financial difficulty. Results: The NHATS sample included 6,879 community-dwelling older adults (5670 no VD/dementia, 494 VD-alone, 512 dementia-alone, 203 co-occurring VD and dementia). Adults with VD and dementia had higher odds of receiving SNAP benefits (OR = 2.6, 95%CI = 1.4-4.8) and other food assistance (OR = 4.1, 95%CI = 1.8-9.1) than adults without VD/dementia, while no differences were noted for debt, financial help, and utility assistance. Adults with VD-alone had higher odds of debt (OR = 2.1, 95%CI = 1.3-3.2), receiving financial help (OR = 1.7, 95%CI = 1.1-2.5) and other food assistance (OR = 2.7, 95%CI = 1.7-4.3); while adults with dementia-alone had higher odds of debt (OR = 2.8, 95%CI = 1.4-5.5). The NSOC sample included 1,759 caregivers (995 caring for adults without VD/dementia, 223 for VD-alone, 368 for dementia-alone, and 173 for co-occurring VD and dementia). Compared to caregivers of older adults without VD/dementia, caregivers of adults with VD and dementia had higher odds of financial difficulty (OR = 3.0, 95%CI = 1.7-5.3) while caregivers of adults with VD-alone or dementia-alone did not. Discussion: While older adults with VD- or dementia-alone experienced increased economic hardships, disparities in food assistance were amplified among older adults with co-occurring disease. Caregivers of adults with co-occurring disease experienced more financial difficulty than caregivers of adults with a single or no disease. This study highlights the need for interventions across clinical and social services to support the economic wellbeing of our aging population and their caregivers.

Eponyms in Malignant Hematology.

Eponyms have been traditionally used in the field of medicine to honor the contributions of an individual or group of individuals in understanding a disease. However, many eponyms have come under scrutiny given the personal backgrounds of individuals for whom they intend to honor. As we previously reviewed commonly used eponyms in medical oncology, we now aim to review commonly used eponyms in malignant hematology in order to highlight the individuals for whom they are named after. In this review, we discuss the pathophysiology of each disease, epidemiology, and the historical background for the individual or individuals for which the eponym honors.

The cure from within? a review of the microbiome and diet in melanoma.

Therapy for cutaneous melanoma, the deadliest of the skin cancers, is inextricably linked to the immune system. Once thought impossible, cures for metastatic melanoma with immune checkpoint inhibitors have been developed within the last decade and now occur regularly in the clinic. Unfortunately, half of tumors do not respond to checkpoint inhibitors and efforts to further exploit the immune system are needed. Tantalizing associations with immune health and gut microbiome composition suggest we can improve the success rate of immunotherapy. The gut contains over half of the immune cells in our bodies and increasingly, evidence is linking the immune system within our gut to melanoma development and treatment. In this review, we discuss the importance the skin and gut microbiome may play in the development of melanoma. We examine the differences in the microbial populations which inhabit the gut of those who develop melanoma and subsequently respond to immunotherapeutics. We discuss the role of dietary intake on the development and treatment of melanoma. And finally, we review the landscape of published and registered clinical trials therapeutically targeting the microbiome in melanoma through dietary supplements, fecal microbiota transplant, and microbial supplementation.

Harboyan Syndrome: A Novel SLC4A11 Variant With Unique Genotype-Phenotype Correlation.

PURPOSE: The purpose of this study was to describe the genotypic and phenotypic characteristics of an infant with a SLC4A11 mutation associated with bilateral corneal edema, hearing loss, and hydronephrosis present since birth. METHODS: This was a case report. Ophthalmic and systemic examination of the proband, histopathologic and ultrastructural characteristics of bilateral corneal discs, and molecular genetic evaluation by whole-exome sequencing are described. RESULTS: A male infant was born with bilateral corneal opacities, sensorineural hearing loss, and hydronephrosis to healthy parents after an uneventful pregnancy. Penetrating keratoplasty of the left eye at age 10 months demonstrated minimal corneal edema with normal thickness Descemet membrane and cellular endothelium with intracytoplasmic vacuoles and degenerative changes in rare cells. Penetrating keratoplasty of the right eye 6 months later disclosed prominent corneal edema with a thickened posterior banded layer of Descemet membrane and severe endothelial atrophy. Whole-exome sequencing of the proband and parents' blood demonstrated a homozygous mutation in SLC4A11 gene (c.1735_1737delCTC,p.Leu579del). The combined clinical, histopathologic, and molecular genetic findings raised consideration of an unusual phenotype of Harboyan syndrome manifesting as congenital hereditary endothelial dystrophy with a prelingual rather than, as previously described, postlingual hearing loss. CONCLUSIONS: We report a novel homozygous SLC4A11 variant with a previously undocumented phenotype of CHED in association with prelingual sensorineural hearing loss and hydronephrosis, thus broadening our understanding of the spectrum of genotypic and phenotypic findings of Harboyan syndrome.

Eponyms in medical oncology.

Eponyms have historically been used to honor individual contributions or discoveries in the field of medicine. More recently, some eponyms have been criticized for imprecision or for being misnomers. Eponyms attributed to discoveries made by Nazi German scientists have also fallen out of favor. However, despite these criticisms, eponyms remain popular for their ease of use. Eponyms generate interest in medical history and may help humanize the study of medicine. Here, we describe several eponyms in medical oncology with a focus on basic disease pathophysiology, epidemiology, and brief background on the individuals for whom the eponym was named.

Referral patterns for infantile cataracts in two regions of the United States.

BACKGROUND: Delayed treatment of congenital or infantile cataracts can cause deprivation amblyopia. Prompt diagnosis and surgical intervention is critical for optimal outcomes. This study assessed referral patterns for congenital or infantile cataracts in two regions of the United States. METHODS: The medical records of children 0-1 years of age with congenital or infantile cataracts at Stanford University (2008-2018) and Emory University (2010-2015) were reviewed retrospectively. RESULTS: A total of 111 children were included. Of these, 82 (74%) were initially evaluated by a primary care doctor, of whom 40 (49%) were referred directly to a pediatric cataract surgeon. Of 61 newborns 0-2 months of age, 9 (15%) were initially referred to an eye care provider before 6 weeks of age, but the initial evaluation by a pediatric cataract surgeon was delayed until after 6 weeks of age. Referral patterns were similar between the two institutions (P = 0.06). CONCLUSIONS: Many children with congenital of infantile cataracts are initially referred by a primary care doctor to an eye care provider who does not perform pediatric cataract surgery. Nevertheless, the majority of newborn infants with cataracts were evaluated by a pediatric cataract surgeon before 6 weeks of age.

Teledentistry at the Crossroads: Benefits, Barriers, and Beginnings.

Since the start of COVID-19 shelter-in-place orders given as early as March 16, 2020, routine dental care has experienced a sharp interruption. This challenging time has provided an opportunity for healthcare professionals to use and collaborate with available technologies in a meaningful way. One of the silver linings for dental professionals during this time has been the use of teledentistry. While it is not a replacement for a clinical examination, studies show that teledentistry can be utilized to triage cases, maintain contact with patients, and successfully identify abnormal oral lesions. This article explains both the benefits and barriers of teledentistry that specifically apply to pandemic conditions, providing examples of how this modality can be used by different specialties in dentistry. Additionally, the article proposes models of how teledentistry can be effectively integrated in two different settings: the private practice model and dental schools.