A Novel Gene Mutation Associated With Autosomal Dominant Retinal Degeneration.

Despite major progress in the discovery of causative genes, many individuals and families with inherited retinal degenerations (IRDs) remain without a molecular diagnosis. We applied whole exome sequencing to identify the genetic cause in a family with an autosomal dominant IRD. Eye examinations were performed and affected patients were studied with electroretinography and kinetic and chromatic static perimetry.

COVID-related "lockdowns" and birth rates in New York.

Objective: Recent analyses have suggested that the number of births in the United States may decrease substantially in the wake of the COVID-19 pandemic. Some of this decline may be attributable to economic disruptions that are often linked to lowered birth rates. However to the best of our knowledge, empirical data to validate these projections and to look more specifically at the consequences of "lockdowns," have not yet been published.

Macular Rod Function in Retinitis Pigmentosa Measured With Scotopic Microperimetry.

Purpose: To investigate the validity and reliability of macular rod photoreceptor function measurement with a microperimeter.

Methods: Macular sensitivity in dark-adapted retinitis pigmentosa (RP) patients (22 eyes; 9-67 years of age) and controls (five eyes; 22-55 years of age) was assessed with a modified Humphrey field analyzer (mHFA), as well as a scotopic microperimeter (Nidek MP-1S). Sensitivity loss (SL) was estimated at rod-mediated locations.

Calculated blood loss at cesarean delivery in patients with preeclampsia with severe features on magnesium sulfate.

Introduction: Magnesium sulfate decreases the risk of eclampsia in patients with severe preeclampsia. There is a theoretical risk that magnesium sulfate increases the risk of intrapartum hemorrhage. We evaluated whether there was a quantitative difference in blood loss in patients receiving magnesium sulfate at the time of cesarean delivery (CD) compared to those who were not.

Predictors of severe and critical disease in pregnant women with SARS-CoV-2.

Background/objective: SARS-CoV-2 continues to spread widely in the US and worldwide. Pregnant women are more likely to develop severe or critical illness than their non-pregnant counterparts. Known risk factors for severe and critical disease outside of pregnancy, such as asthma, diabetes, and obesity have not been well-studied in pregnancy.

Full-field stimulus testing: Role in the clinic and as an outcome measure in clinical trials of severe childhood retinal disease.

Disease mechanisms have become better understood in previously incurable forms of early-onset severe retinal dystrophy, such as Leber congenital amaurosis (LCA). This has led to novel treatments and clinical trials that have shown some success. Standard methods to measure vision were difficult if not impossible to perform in severely affected patients with low vision and nystagmus.

Loss of Aryl Hydrocarbon Receptor Favors -Driven Non-Small Cell Lung Cancer.

Non-small cell lung adenocarcinoma (NSCLC) bearing mutations is one of the most prevalent types of lung cancer worldwide. Aryl hydrocarbon receptor (AHR) expression varies in human lung tumors and has been associated with either increased or reduced lung metastasis. In the mouse, Ahr also adjusts lung regeneration upon injury by limiting the expansion of resident stem cells.

Aryl hydrocarbon receptor controls skin homeostasis, regeneration, and hair follicle cycling by adjusting epidermal stem cell function.

Skin integrity requires constant maintenance of a quiescent, yet responsive, population of stem cells. While interfollicular epidermal progenitors control normal homeostasis, hair follicle stem cells residing within the bulge provide regenerative potential during hair cycle and in response to wounding. The aryl hydrocarbon receptor (AhR) modulates cell plasticity and differentiation and its overactivation results in severe skin lesions in humans.

COVID-19 vaccination in pregnancy: early experience from a single institution.

Objective: Pregnant women are at increased risk for morbidity owing to infection with the COVID-19 virus. Vaccination presents an important strategy to mitigate illness in this population. However, there is a paucity of data on vaccination safety and pregnancy outcomes because pregnant women were excluded from the initial phase III clinical trials.

Expanding Availability of Speech-Generating Device Evaluation and Treatment to People With Amyotrophic Lateral Sclerosis (pALS) Through Telepractice: Perspectives of pALS and Communication Partners.

Purpose To examine the experiences of people with ALS (pALS) and their communication partners (cALS) regarding receiving speech-generating device (SGD) evaluation and treatment via telepractice. Method Eight pALS along with a primary cALS participated in telepractice SGD evaluation and treatment with an augmentative and alternative communication (AAC) specialist and representatives from multiple SGD vendors. Participants were interviewed postevaluation and post-SGD training to examine their experiences.

p53 regulation by MDM2 contributes to self-renewal and differentiation of basal stem cells in mouse and human airway epithelium.

Proper physiological function of mammalian airways requires the differentiation of basal stem cells into secretory or multiciliated cells, among others. In addition, the self-renewal ability of these basal stem cells is crucial for developing a quick response to toxic agents in order to re-establish the epithelial barrier function of the airways. Although these epithelial missions are vital, little is known about those mechanism controlling airway epithelial regeneration in health and disease.

Lung Transplant Improves Survival and Quality of Life Regardless of Telomere Dysfunction.

Fibrotic interstitial lung diseases (ILDs) are the first indication for lung transplantation (LT). Telomere dysfunction has been associated with poor post-transplant outcomes. The aim of the study was to evaluate the morbi-mortality and quality of life in fibrotic ILDs after lung transplant depending on telomere biology.

Junctional Adhesion Molecule 3 Expression in the Mouse Airway Epithelium Is Linked to Multiciliated Cells.

Tight-junction (TJ) proteins are essential for establishing the barrier function between neighbor epithelial cells, but also for recognition of pathogens or cell migration. Establishing the expression pattern and localization of different TJ proteins will help to understand the development and physiology of the airway. Here we identify that the junctional adhesion molecule 3 () expression is restricted to multiciliated cells (MCCs) in the airway epithelium.

Group B streptococcus sepsis in an infant presented with cellulitis of soft tissue of neck.

We report a case of cellulitis of the soft tissue of the neck with group B streptococcus (GBS) sepsis in a 4-week-old baby boy presented with a 1-day history of fever, irritability and feed refusal. While in the hospital, a left-sided submandibular swelling extending to preauricular area started emerging, which progressed dramatically. Ultrasound scan of the neck confirmed inflammation of the underlying soft tissue while revealing multiple enlarged lymph nodes without any abscess formation and overlying soft tissue oedema.

Histamine signaling and metabolism identify potential biomarkers and therapies for lymphangioleiomyomatosis.

Inhibition of mTOR is the standard of care for lymphangioleiomyomatosis (LAM). However, this therapy has variable tolerability and some patients show progressive decline of lung function despite treatment. LAM diagnosis and monitoring can also be challenging due to the heterogeneity of symptoms and insufficiency of non-invasive tests.

In Vitro Study on the Adhesive Performance of Some Resin-Based Materials Used to Restore Class II Cavities.

The study aimed to evaluate the adhesive performances of two ormocer materials and two micro-hybrid composites placed to restore class II cavities. We tested the null hypothesis, which considered that the adhesive behaviors of tested materials did not differ. On each extracted tooth, two class II cavities were prepared having an enamel located cervical margin and a cementum located cervical margin, respectively, and were restored using two different restoration techniques.

How do pedestrians respond to adaptive headlamp systems in vehicles? A road-crossing study in an immersive virtual environment.

Three-fourths of pedestrian fatalities in the U.S. occur in the dark (National Center for Statistics and Analysis, 2020).

Heterogeneity and Cancer-Related Features in Lymphangioleiomyomatosis Cells and Tissue.

Lymphangioleiomyomatosis (LAM) is a rare, low-grade metastasizing disease characterized by cystic lung destruction. LAM can exhibit extensive heterogeneity at the molecular, cellular, and tissue levels. However, the molecular similarities and differences among LAM cells and tissue, and their connection to cancer features are not fully understood.

Longitudinal evaluation of azithromycin and cytokine concentrations in amniotic fluid following one-time oral dosing in pregnancy.

To utilize noninvasive collection of amniotic fluid in the setting of preterm premature rupture of membranes (PPROMs) to report the time concentration profile of azithromycin in amniotic fluid over 7 days from a single dose, and evaluate the correlation between azithromycin concentration and inflammatory markers in amniotic fluid. Prospective cohort study of five pregnant patients admitted with PPROMs and treated with a single 1 g oral azithromycin dose. Amniotic fluid was collected from pads and used to quantify azithromycin concentration as well as TNFa, IL-1a, IL-1b, IL-6, IL-8, and IL-10 concentrations.

Measures of Function and Structure to Determine Phenotypic Features, Natural History, and Treatment Outcomes in Inherited Retinal Diseases.

Inherited retinal diseases (IRDs) are at the forefront of innovative gene-specific treatments because of the causation by single genes, the availability of microsurgical access for treatment delivery, and the relative ease of quantitative imaging and vision measurement. However, it is not always easy to choose a priori, from scores of potential measures, an appropriate subset to evaluate efficacy outcomes considering the wide range of disease stages with different phenotypic features. This article reviews measurements of visual function and retinal structure that our group has used over the past three decades to understand the natural history of IRDs.

Characteristics and outcomes of patients with COVID-19 and liver injury: a retrospective analysis and a multicenter experience.

Patients with COVID-19 frequently present abnormal elevated liver function tests of unknown clinical significance. We aimed to investigate the characteristics and factors influencing outcome in patients with confirmed SARS-CoV-2 infection and liver injury on admission. This is a retrospective observational study of patients hospitalized in two COVID units in Romania.

The Air We Breathe: Air Pollution as a Prevalent Proinflammatory Stimulus Contributing to Neurodegeneration.

Air pollution is regarded as an important risk factor for many diseases that affect a large proportion of the human population. To date, accumulating reports have noted that particulate matter (PM) is closely associated with the course of cardiopulmonary disorders. As the incidence of Alzheimer's disease (AD), Parkinson's disease (PD), and autoimmune disorders have risen and as the world's population is aging, there is an increasing interest in environmental health hazards, mainly air pollution, which has been slightly overlooked as one of many plausible detrimental stimuli contributing to neurodegenerative disease onset and progression.

Isolation and Characterization of Phages Active against Causing American Foulbrood in Honeybees in Poland.

The aim of this study was the isolation and characterization, including the phage effect on honeybees in laboratory conditions, of phages active against , the causative agent of American Foulbrood-a highly infective and easily spreading disease occurring in honeybee larva, and subsequently the development of a preparation to prevent and treat this dangerous disease. From the tested material (over 2500 samples) 35 spp. strains were obtained and used to search for phages.