Publications by authors named "Spiegel E"

Ensuring the integrity of research data is crucial for the accuracy and reproducibility of any data-based scientific study. This can only be achieved by establishing and implementing strict rules for the handling of research data. Essential steps for achieving high-quality data involve planning what data to gather, collecting it in the correct manner, and processing it in a robust and reproducible way.

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Article Synopsis
  • - X-linked acrogigantism (X-LAG) is a serious genetic condition caused by duplications on chromosome X that affect the GPR101 gene, leading to excessive growth due to misexpression of this gene in the pituitary gland.
  • - The researchers used advanced genomic techniques, specifically 4C/HiC-seq, to examine the impact of GPR101 duplications on the functional structure of the genome in families with these duplications, finding that some did not create harmful changes.
  • - The study emphasizes the significance of chromatin interactions and boundaries in understanding genetic disorders and demonstrates the utility of 4C/HiC-seq in genetic counseling and clinical decision-making for suspected TADopathies.
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Purpose: AI (artificial intelligence)-based methodologies have become established tools for researchers and physicians in the entire field of ophthalmology. However, the potential of AI to optimize the refractive outcome of keratorefractive surgery by means of machine learning (ML)-based nomograms has not been exhausted yet. In this study, we wanted to comprehensively compare state-of-the-art conventional nomograms for Small-Incision-Lenticule-Extraction (SMILE) with a novel ML-based nomogram regarding both their spherical and astigmatic predictability.

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Constitutional deletions of chromosome 1q42 region are rare. The phenotype spectrum associated with this copy number change is variable, including developmental delay, intellectual disability, seizures, and dysmorphology. This study describes a patient with developmental delays and brain abnormalities.

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The Department of Psychiatry at Washington University has been innovating psychiatric education during the second millennium at all levels of training - undergraduate medical, general residency, and child and adolescent psychiatry (CAP) fellowship training. Undergraduate medical education now occurs in three phases. The 18-month pre-clerkship phase is divided into seven multidisciplinary modules that span basic, social, and clinical sciences.

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DNA vaccines have inherent advantages compared to other vaccine types, including safety, rapid design and construction, ease and speed to manufacture, and thermostability. However, a major drawback of candidate DNA vaccines delivered by needle and syringe is the poor immunogenicity associated with inefficient cellular uptake of the DNA. This uptake is essential because the target vaccine antigen is produced within cells and then presented to the immune system.

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We have previously shown that DNA vaccines expressing codon optimized alphavirus envelope glycoprotein genes protect both mice and nonhuman primates from viral challenge when delivered by particle-mediated epidermal delivery (PMED) or intramuscular (IM) electroporation (EP). Another technology with fewer logistical drawbacks is disposable syringe jet injection (DSJI) devices developed by PharmaJet, Inc. These needle-free jet injection systems are spring-powered and capable of delivering vaccines either IM or into the dermis (ID).

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The unique situational challenges of the COVID-19 pandemic have demanded creative modifications to the delivery of genetic services. Institutions across the country have adapted workflows to continue to provide quality care while minimizing the need for physical visits. As the first epicenter of the pandemic in the country, New York City healthcare workers and residents had to make rapid, unprecedented changes to their way of life.

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Expectile regression, in contrast to classical linear regression, allows for heteroscedasticity and omits a parametric specification of the underlying distribution. This model class can be seen as a quantile-like generalization of least squares regression. Similarly as in quantile regression, the whole distribution can be modeled with expectiles, while still offering the same flexibility in the use of semiparametric predictors as modern mean regression.

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The authors measured perceived quality of life for 4 disabilities among 450 adults in 3 resource-limited countries, measuring mean utilities using time trade-off, and surveying participants on 35 sociocultural characteristics to compare utilities for disabilities by country and examine associated sociocultural characteristics. Mean utilities were >0 for mild and moderate, but <0 for severe and profound. Utilities differed across countries ( = .

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High-throughput drug screens in cancer cell lines test compounds at low concentrations, thereby enabling the identification of drug-sensitivity biomarkers, while resistance biomarkers remain underexplored. Dissecting meaningful drug responses at high concentrations is challenging due to cytotoxicity, i.e.

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Background: Several attempts have been made to find tools for the prediction of successful induction of labor. Sonographic myometrial thickness has not yet been investigated regarding its use as a clinical tool for the course of labor induction.

Objective: To evaluate the role of sonographic measurement of myometrial thickness in the prediction of the time interval to successful vaginal delivery after induction of labor.

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Purpose: Ehlers-Danlos Syndrome (EDS) is an inherited connective tissue disorder caused by abnormal collagen synthesis. Little is known about its effects on pregnancy. The purpose of this study was to evaluate the pregnancy outcomes in women with EDS.

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Objective: This study aimed to (1) determine to what degree prenatal care was able to be transitioned to telehealth at prenatal practices associated with two affiliated hospitals in New York City during the novel coronavirus disease 2019 (COVID-19) pandemic and (2) describe providers' experience with this transition.

Study Design: Trends in whether prenatal care visits were conducted in-person or via telehealth were analyzed by week for a 5-week period from March 9 to April 12 at Columbia University Irving Medical Center (CUIMC)-affiliated prenatal practices in New York City during the COVID-19 pandemic. Visits were analyzed for maternal-fetal medicine (MFM) and general obstetrical faculty practices, as well as a clinic system serving patients with public insurance.

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As New York City became an international epicenter of the novel coronavirus disease 2019 (COVID-19) pandemic, telehealth was rapidly integrated into prenatal care at Columbia University Irving Medical Center, an academic hospital system in Manhattan. Goals of implementation were to consolidate in-person prenatal screening, surveillance, and examinations into fewer in-person visits while maintaining patient access to ongoing antenatal care and subspecialty consultations via telehealth virtual visits. The rationale for this change was to minimize patient travel and thus risk for COVID-19 exposure.

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Chemical compounds such as arsenic, mercury and organochlorine pesticides have been extensively used as preventive and curative conservation treatments for cultural and biological collections to protect them from pest and mold infestations. Most of the aforementioned compounds have been classified as carcinogenic, mutagenic and teratogenic and represent a health risk for members of staff exposed to contaminated objects. The present study addresses the internal exposure of 28 museum employees in Museum für Naturkunde Berlin by measuring arsenic species and mercury in urine as well as hexachlorocyclohexane isomers (α-HCH, β-HCH, γ-HCH), hexachlorobenzene (HCB), dichlorodiphenyltrichloroethane (4,4'-DDT) and its main metabolite, dichlorodiphenyldichloroethylene (4,4'-DDE), and pentachlorophenol (PCP) in blood serum.

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Background Thyroid cancer is one of the most common cancers in women of reproductive age. Our purpose was to evaluate the association between thyroid cancer and maternal and neonatal outcomes of pregnancy. Methods We conducted a retrospective cohort study using the Healthcare Cost and Utilization Project, Nationwide Inpatient Sample (HCUP-NIS) database from the US.

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This article develops the idea that hypnosis is an interactive phenomenon occurring in a relational matrix. A tripartite model for explicating this relational matrix is presented, which includes a discussion of transference, contemporary relationship factors, and the interaction of these to produce a sense of therapeutic alliance. These relationship factors are central to the therapeutic action of hypnosis as a vehicle to potentiate change and growth.

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Over the years, the field of hypnosis has often given more attention to the state and procedural factors of hypnosis than the relational ones. In an attempt to address this imbalance, the 60th annual meeting of the American Society of Clinical Hypnosis (ASCH) had as its theme "Hypnosis and the Treatment Relationship." A centerpiece of this meeting was a collegial discussion among a panel of psychologists with expertise in relational hypnotherapy.

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In this guest editorial, the authors introduce a special issue of the that focuses on relational factors of hypnosis in psychotherapy. The authors have invited a number of esteemed colleagues to comment on aspects of the therapeutic relationship, and how it informs and influences the processes, techniques, and outcomes of hypnosis and therapy. In addition to summarizing each of these articles, this article analyzes the major relational themes that present across the articles.

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We numerically explore the dynamics of an incompressible fluid heated from below, bounded by free-slip horizontal plates and periodic lateral boundary conditions, subject to rapid rotation about a distant axis that is tilted with respect to the gravity vector. The angle ϕ between the rotation axis and the horizontal plane measures the tilting of the rotation axis; it can be taken as a proxy for latitude if we think of a local Cartesian representation of the convective dynamics in a rotating fluid shell. The results of the simulations indicate the existence of three different convective regimes, depending on the value of ϕ: (1) sheared, intermittent large-scale winds in the direction perpendicular to the plane defined by the gravity and rotation vectors, when rotation is "horizontal" (ϕ=0^{∘}); (2) a large-scale cyclonic vortex tilted along the rotation axis, when the angle between the rotation axis and the gravity vector is relatively small (ϕ between about 45^{∘} and 90^{∘}); and (3) a new intermediate regime characterized by vertically sheared large-scale winds perpendicular to both gravity and rotation.

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Chemical compounds such as arsenic, mercury and organochlorine pesticides have been extensively used as preventive and curative conservation treatments for cultural and biological collections to protect them from pest and mould infestations. Most of the aforementioned compounds have been classified as carcinogenic, mutagenic and teratogenic and represent a health risk for staff exposed to contaminated objects. A total of 30 compounds were analysed in settled dust, particulate matter and surrounding air collected at several locations in the natural history collections and adjacent rooms of the Museum für Naturkunde, Berlin (MfN, Natural History Museum, Berlin, Germany).

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Background: Identification of chromosomal aneuploidies and copy number variants that are associated with fetal structural anomalies has substantial value. Although whole-exome sequencing (WES) has been applied to case series of a few selected prenatal cases, its value in routine clinical settings has not been prospectively assessed in a large unselected cohort of fetuses with structural anomalies. We therefore aimed to determine the incremental diagnostic yield (ie, the added value) of WES following uninformative results of standard investigations with karyotype testing and chromosomal microarray in an unselected cohort of sequential pregnancies showing fetal structural anomalies.

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Introduction: There are contradicting findings in the current literature regarding the association between in-utero exposure to preeclampsia and the long-term neuropsychiatric health of the offspring. The objective of this study is to assess whether prenatal exposure to preeclampsia increases the risk of long-term neuropsychiatric morbidity.

Methods: A retrospective population-based cohort study compared neuropsychiatric morbidity between singletons exposed and unexposed to preeclampsia.

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Introduction: Preeclampsia is a leading cause of maternal and fetal morbidity and mortality. Regarding the offspring, little is known about the long-term complications. The objective of the current study is to assess whether in utero exposure to preeclampsia increases the risk of long-term cardiovascular morbidity in the offspring.

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