Dental profile of patients with Gaucher disease

BACKGROUND: This study was conducted to determine whether patients with Gaucher disease had significant dental pathology because of abnormal bone structure, pancytopenia, and coagulation abnormalities. METHODS: Each patient received a complete oral and periodontal examination in addition to a routine hematological evaluation. RESULTS: Gaucher patients had significantly fewer carious lesions than otherwise healthy carriers. Despite prevalence of anemia, there was no increase in gingival disease; despite the high incidence of thrombocytopenia, gingival bleeding was not noted; and despite radiological evidence of bone involvement, there was no greater incidence loss of teeth or clinical tooth mobility. CONCLUSIONS: These data represent the first survey of the oral health of a large cohort of patients with Gaucher disease. It is a pilot study of a unique population and the results of the investigation are indications for further research. Based on our findings, we recommend regular oral examinations with appropriate dental treatment for patients with Gaucher disease as for other individuals. Consultation between the dentist and physician, preferably one with experience with Gaucher disease, should be considered when surgical procedures are planned

SPE-44 Implements Sperm Cell Fate

The sperm/oocyte decision in the hermaphrodite germline of Caenorhabditis elegans provides a powerful model for the characterization of stem cell fate specification and differentiation. The germline sex determination program that governs gamete fate has been well studied, but direct mediators of cell-type-specific transcription are largely unknown. We report the identification of spe-44 as a critical regulator of sperm gene expression. Deletion of spe-44 causes sperm-specific defects in cytokinesis, cell cycle progression, and organelle assembly resulting in sterility. Expression of spe-44 correlates precisely with spermatogenesis and is regulated by the germline sex determination pathway. spe-44 is required for the appropriate expression of several hundred sperm-enriched genes. The SPE-44 protein is restricted to the sperm-producing germline, where it localizes to the autosomes (which contain sperm genes) but is excluded from the transcriptionally silent X chromosome (which does not). The orthologous gene in other Caenorhabditis species is similarly expressed in a sex-biased manner, and the protein likewise exhibits autosome-specific localization in developing sperm, strongly suggestive of an evolutionarily conserved role in sperm gene expression. Our analysis represents the first identification of a transcriptional regulator whose primary function is the control of gamete-type-specific transcription in this system

Impact of COVID-19 on cardiovascular testing in the United States versus the rest of the world

Objectives: This study sought to quantify and compare the decline in volumes of cardiovascular procedures between the United States and non-US institutions during the early phase of the coronavirus disease-2019 (COVID-19) pandemic. Background: The COVID-19 pandemic has disrupted the care of many non-COVID-19 illnesses. Reductions in diagnostic cardiovascular testing around the world have led to concerns over the implications of reduced testing for cardiovascular disease (CVD) morbidity and mortality. Methods: Data were submitted to the INCAPS-COVID (International Atomic Energy Agency Non-Invasive Cardiology Protocols Study of COVID-19), a multinational registry comprising 909 institutions in 108 countries (including 155 facilities in 40 U.S. states), assessing the impact of the COVID-19 pandemic on volumes of diagnostic cardiovascular procedures. Data were obtained for April 2020 and compared with volumes of baseline procedures from March 2019. We compared laboratory characteristics, practices, and procedure volumes between U.S. and non-U.S. facilities and between U.S. geographic regions and identified factors associated with volume reduction in the United States. Results: Reductions in the volumes of procedures in the United States were similar to those in non-U.S. facilities (68% vs. 63%, respectively; p = 0.237), although U.S. facilities reported greater reductions in invasive coronary angiography (69% vs. 53%, respectively; p < 0.001). Significantly more U.S. facilities reported increased use of telehealth and patient screening measures than non-U.S. facilities, such as temperature checks, symptom screenings, and COVID-19 testing. Reductions in volumes of procedures differed between U.S. regions, with larger declines observed in the Northeast (76%) and Midwest (74%) than in the South (62%) and West (44%). Prevalence of COVID-19, staff redeployments, outpatient centers, and urban centers were associated with greater reductions in volume in U.S. facilities in a multivariable analysis. Conclusions: We observed marked reductions in U.S. cardiovascular testing in the early phase of the pandemic and significant variability between U.S. regions. The association between reductions of volumes and COVID-19 prevalence in the United States highlighted the need for proactive efforts to maintain access to cardiovascular testing in areas most affected by outbreaks of COVID-19 infection

Enucleation vs Ophthalmic Artery Chemosurgery for Advanced Intraocular Retinoblastoma

IMPORTANCE Ophthalmic artery chemosurgery (OAC) has emerged as a primary treatment for advanced-stage retinoblastoma. To our knowledge, the incidence of orbital recurrence in eyes treated with OAC has not been described. OBJECTIVE To determine the incidence of orbital recurrence following enucleation or OAC as primary treatments for advanced-stage retinoblastoma. DESIGN, SETTING, AND PARTICIPANTS Single-institution cohort study with retrospective record review at an academic ophthalmic oncology practice. A total of 140 eyes in 135 patients who presented between February 14, 2006, and March 4, 2014, and were classified as having Reese-Ellsworth group 5 or International Classification of Retinoblastoma (Children's Oncology Group) group D or E retinoblastoma were included; 63 patients (63 eyes) were primarily treated with enucleation and 72 patients (77 eyes) were primarily treated with OAC. This analysis was conducted between August 1, 2014, and March 1, 2015. MAIN OUTCOMES AND MEASURES Incidence of and time to orbital recurrence, metastasis, and death. RESULTS There were 5 orbital recurrences (incidence, 7.9%) in the primary enucleation group and 1 orbital recurrence (incidence, 1.3%) in the primary OAC group during median follow-up times of 42.6 months (range, 6.2-97.1 months) and 38.7 months (range, 9.0-104.3 months), respectively. The 24-month Kaplan-Meier estimate for orbital recurrence-free survival was worse for the enucleation group (92.1%; 95% CI, 82.0-96.7) than for the OAC group (100%) (log-rank test, P = .049). The enucleation group had 5 cases of metastatic disease (7.9%) and 2 deaths (3.2%). In the OAC group, there were 3 cases of metastatic disease (4.2%) and no deaths. Kaplan-Meier analysis of metastasis-free survival and overall survival yielded no differences between the 2 treatment groups. Analysis of a number of features of the 2 groups revealed more eyes with iris neovascularization in the enucleation group (25.4%) than in the OAC group (5.2%) and more eyes with group E retinoblastoma in the enucleation group (87.3%) than in the OAC group (29.9%), although neither of these factors was an independent predictor of orbital relapse in a Cox proportional hazards model. CONCLUSIONS AND RELEVANCE In this single-institution retrospective study of advanced intraocular retinoblastoma, there were more orbital recurrences in the group primarily treated with enucleation. Ophthalmic artery chemosurgery for advanced intraocular retinoblastoma was not found to increase the chance of orbital recurrence, metastatic disease, or death compared with primary enucleation