Publications by authors named "Gregory A"

Article Synopsis
  • Heterozygous mutations in the KMT2B gene are linked to early-onset dystonia (DYT28), featuring motor problems that start locally and can spread throughout the body, particularly affecting the face and neck.
  • A study of 53 patients with KMT2B mutations revealed new disease presentations and identified various health issues, such as growth retardation and endocrine disorders, as well as a higher impact on patients with more severe genetic variants.
  • Patients who underwent deep brain stimulation for severe dystonia showed significant improvement in motor function and disability over time, with more than half experiencing over 30% improvement at the one-year mark.
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Background & Aims: Isolated autosomal-dominant polycystic liver disease (ADPLD) is generally considered a rare disease. However, the frequency of truncating mutations to ADPLD genes in large, population sequencing databases is 1:496. With the increasing use of abdominal imaging, incidental detection of hepatic cysts and ADPLD has become more frequent.

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Background: The Centers for Disease Control and Prevention (CDC) publishes COVID-19 non-pharmaceutical intervention (NPI) guidance for specific institutional audiences to limit community spread. Audiences include: business, clinical, public health, education, community, and state/local government. The swift, severe, and global nature of COVID-19 offers an opportunity to systematically obtain a national view of how larger institutions of higher education adopted NPI guidance at the onset of the pandemic.

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Background: Equipoise exists between the use of leaflet resection and preservation for surgical repair of mitral regurgitation caused by prolapse. We therefore performed a randomized, controlled trial comparing these 2 techniques, particularly in regard to functional mitral stenosis.

Methods: One hundred four patients with degenerative mitral regurgitation surgically amenable to either leaflet resection or preservation were randomized at 7 specialized cardiac surgical centers.

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Most neurodegeneration with brain iron accumulation (NBIA) disorders can be distinguished by identifying characteristic changes on magnetic resonance imaging (MRI) in combination with clinical findings. However, a significant number of patients with an NBIA disorder confirmed by genetic testing have MRI features that are atypical for their specific disease. The appearance of specific MRI patterns depends on the stage of the disease and the patient's age at evaluation.

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We used Developmental Systems Theory as a framework for understanding the role of contextual factors in the development of purpose in urban adolescents. The sample included primarily low-socioeconomic students of color attending urban middle schools (n = 2,629; 10-16 years of age). Longitudinal data were collected at four time points across two years.

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Sonographic features associated with margins, shape, size, and volume of thyroid nodules are used to assess their risk of malignancy. Automatically segmenting nodules from normal thyroid gland would enable an automated estimation of these features. A novel multi-output convolutional neural network algorithm with dilated convolutional layers is presented to segment thyroid nodules, cystic components inside the nodules, and normal thyroid gland from clinical ultrasound B-mode scans.

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'Hippocrates flagged the value of sleep for good health' was the first line of the Annual Research Review (ARR) by Gregory and Sadeh (2016) in this journal, titled Sleep problems in childhood psychiatric disorders - a review of the latest science. Where Hippocrates has been referred to as the 'Father of Medicine', Professor Avi Sadeh has been respected as a 'Father of Paediatric Sleep Medicine' by those who had the privilege to meet him or read his science. Sadly, Avi Sadeh passed away in the same year this ARR was published.

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Purpose: For patients affected by autosomal-dominant polycystic kidney disease (ADPKD), successful differentiation of cysts is useful for automatic classification of patient phenotypes, clinical decision-making, and disease progression. The objective was to develop and evaluate a fully automated semantic segmentation method to differentiate and analyze renal cysts in patients with ADPKD.

Methods: An automated deep learning approach using a convolutional neural network was trained, validated, and tested on a set of 60 MR T2-weighted images.

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We applied sub-Hertz analysis of viscoelasticity (SAVE) to differentiate breast masses in pre-biopsy patients. Tissue response during external ramp-and-hold stress was ultrasonically detected. Displacements were used to acquire tissue viscoelastic parameters.

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Objective: Exploding head syndrome (EHS) is a benign sensory parasomnia characterized by the perception of loud noises or a sense of explosion in the head. Few studies have assessed clinical features and little is known about demographic differences or prevention strategies.

Patients/methods: A cross-sectional study of 3286 individuals with and 2954 without lifetime EHS episodes was conducted via online questionnaires.

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The gut microbiome profoundly affects human health and disease, and their infecting viruses are likely as important, but often missed because of reference database limitations. Here, we (1) built a human Gut Virome Database (GVD) from 2,697 viral particle or microbial metagenomes from 1,986 individuals representing 16 countries, (2) assess its effectiveness, and (3) report a meta-analysis that reveals age-dependent patterns across healthy Westerners. The GVD contains 33,242 unique viral populations (approximately species-level taxa) and improves average viral detection rates over viral RefSeq and IMG/VR nearly 182-fold and 2.

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The objective of this study was to validate a fully automated total kidney volume measurement method for pre-clinical rodent trials that is fast, accurate, reproducible, and to provide these resources to the research community. Rodent studies that involve imaging are crucial for monitoring treatment efficacy in diseases such as polycystic kidney disease. Previous studies utilize manual or semi-automated segmentations, which are time consuming and potentially biased.

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Background: Video telehealth technology has the potential to enhance access for patients with clinical, social, and geographic barriers to care. We evaluated the implementation of a US Department of Veterans Affairs (VA) initiative to distribute tablets to high-need Veterans with access barriers.

Methods: In this mixed methods implementation study, we examined tablet adoption (ie, facility-level tablet distribution rates and patient-level tablet utilization rates) and reach (ie, sociodemographic and clinical characteristics of tablet recipients) between 5/1/16 and 9/30/17.

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Ultrasound measurements of detrusor muscle thickness have been proposed as a diagnostic biomarker in patients with bladder overactivity and voiding dysfunction. In this study, we present an approach based on deep learning (DL) and dynamic programming (DP) to segment the bladder sac and measure the detrusor muscle thickness from transabdominal 2D B-mode ultrasound images. To assess the performance of our method, we compared the results of automated methods to the manually obtained reference bladder segmentations and wall thickness measurements of 80 images obtained from 11 volunteers.

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The increased use of the urban subsurface for competing purposes, such as anthropogenic infrastructures and geothermal energy applications, leads to an urgent need for large-scale sophisticated modelling approaches for coupled mass and heat transfer. However, such models are subject to large uncertainties in model parameters, the physical model itself and in available measured data, which is often rare. Thus, the robustness and reliability of the computer model and its outcomes largely depend on successful parameter estimation and model calibration, which are hampered by the computational burden of large-scale coupled models.

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The aim of this study was to investigate opioid-induced constipation (OIC) in a large cohort of "real-world" patients with cancer; the objectives were to determine the prevalence of OIC, the utility of a simple screening question, the accuracy of the Rome IV diagnostic criteria, the clinical features of OIC (physical and psychological), and the impact of OIC (quality of life). One thousand patients with cancer were enrolled in the study, which involved completion of the Rome IV diagnostic criteria for OIC, the Bowel Function Index, the Patient Assessment of Constipation Quality of Life questionnaire, and the Memorial Symptom Assessment Scale-Short Form. Participants also underwent a thorough clinical assessment by an experienced clinician (ie, "gold-standard" assessment of OIC).

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Reproductive failure is the hallmark of brucellosis in animals. An uncommon but important complication in pregnant women who become acutely infected with is spontaneous pregnancy loss or vertical transmission to the fetus. Unfortunately, the mechanism behind reproductive failure is still obscure, partially due to the lack of a proper study model.

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Background: Sleep problems are common in adolescence, and frequently comorbid with both anxiety and depression. Research studies have suggested a bidirectional relationship between sleep and psychopathology, which includes evidence that sleep interventions can alleviate symptoms of anxiety and depression. However, little is known about the nature of sleep problems amongst adolescents with anxiety and depression, and whether specific sleeping difficulties are involved in the longitudinal relationship between sleep, anxiety and depression.

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Background: Thrombectomy for acute ischemic stroke treatment leads to improved outcomes, but many patients do not achieve a good outcome despite successful reperfusion. We determined predictors of poor outcome after successful thrombectomy (TICI 2b-3) with an emphasis on modifiable factors.

Methods: Patients from the randomized DEFUSE 3 trial who underwent thrombectomy with TICI 2b-3 revascularization were included.

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There are current concerns about whether appropriate support is provided for sexual abuse and assault survivors. We reviewed the published evidence for peer-led groups in the care of survivors. To determine the health and wellbeing outcomes of peer-led, group-based interventions for adult survivors who have experienced sexual abuse and assault and describe the experiences of participants attending these groups.

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There is increasing evidence for the role of exercise-based cardiac rehabilitation in the management of patients with atrial fibrillation (AF). However, this intervention has not yet been widely adopted within the National Health Service (NHS). We performed a feasibility study on the utilisation of an established NHS cardiac rehabilitation programme in the management of AF, and examined the effects of this intervention on exercise capacity, weight, and psychological health.

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Background: After repair of acute type A aortic dissection, typical geometric variables of conventional aortic surveillance focus on maximum diameter and its rate of growth, potentially missing important geometric changes elsewhere. We determined additional information provided by a semiautomated, 3-dimensional (3D), nonlinear growth model of the descending thoracic aorta after repair of type A aortic dissection.

Methods: Computed tomographic angiography data were retrospectively collected after hemiarch repair of type A aortic dissection.

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