bluuebunny/crossref_metadata_2025_split huggingface dataset:
Strategy for Optimizing Airway Volume With Genioglossal Advancement Using Cutting Guide in the Treatment of Obstructive Sleep Apnea
Authors: Hadad Henrique , Mendes Bruno Coelho , Lima Valthierre Nunes de , Ferraz Flávio Wellington da Silva , Souza Francisley Ávila , Magro Filho Osvaldo 
Published: December 2019

Abstract
The genioglossus advancement muscle is a technique used to treat obstructive sleep apnea and depends on the precise location of the muscle insertion into the geniotubercle. The aim of this article was to present a case report about a 38-year-old male patient with obstructive sleep apnea even after undergoing uvulopalatopharyngoplasty and mentoplasty. A maxillo-mandibular advancement and genioglossus was proposed, for this a virtual planning of the surgical guide was done using a specialized software. The great advantage is to reduce the osteotomy by focusing precisely on the insertion of the muscle. The cutting guide facilitated the surgical procedure in all aspects and brought safety.
Classification of Obviously Asymmetric Palpebral Fissures and Correction Based on Double Eyelid Surgery of the Primary Type
Authors: Zhao Feng , Yang Xiaoliang , Li Weifeng , Shi Yunxia 
Published: December 2019

Abstract
Bilateral palpebral fissures (PF) are rarely symmetrical. Palpebral plastic surgery is common in the Chinese population. This study aimed to assess the classification of obviously asymmetric palpebral fissures (OAPF). In addition, double eyelid surgery-based correction for the primary subtype was examined. Various clinical signs and etiologies were examined, and OAPF were classified into 3 subtypes: primary, secondary, and aging. For the secondary and aging subtypes, curative surgeries target the relevant underlying conditions. Patients with the primary subtype underwent corrective surgery based on double eyelid operation. After 8 to 12 months of follow-up, the corrective effects of different surgeries were evaluated in patients (n = 48) with primary OAPF. Satisfying look was obtained in all 48 cases, with smooth double eyelid lines and shapes, and no overt asymmetry between the 2 eyes. Thirteen patients developed hypophasis after levator plication, which was resolved within 1 month. Preoperative and postoperative PF were significantly different (1.48 ± 0.24 versus 0.19 ± 0.09 mm; P < 0.05). Overall, patients with OAPF can be classified into the primary, secondary, and aging subtypes. The 48 cases with the primary subtype showed a satisfying look after double eyelid surgery-based correction.
A transcriptomic continuum of differentiation arrest identifies myeloid interface acute leukemias with poor prognosis
Authors: Bond Jonathan , Krzywon Aleksandra , Lhermitte Ludovic , Roumier Christophe , Roggy Anne , Belhocine Mohamed , Kheirallah Alexander Kaden , Villarese Patrick , Hypolite Guillaume , Garnache-Ottou Francine , Castaigne Sylvie , Boissel Nicolas , Asnafi Vahid , Preudhomme Claude , Dombret Hervé , Laurenti Elisa , Macintyre Elizabeth 
Published: December 2019

AbstractClassification of acute lymphoblastic and myeloid leukemias (ALL and AML) remains heavily based on phenotypic resemblance to normal hematopoietic precursors. This framework can provide diagnostic challenges for immunophenotypically heterogeneous immature leukemias, and ignores recent advances in understanding of developmental multipotency of diverse normal hematopoietic progenitor populations that are identified by transcriptional signatures. We performed transcriptional analyses of a large series of acute myeloid and lymphoid leukemias and detected significant overlap in gene expression between cases in different diagnostic categories. Bioinformatic classification of leukemias along a continuum of hematopoietic differentiation identified leukemias at the myeloid/T-lymphoid interface, which shared gene expression programs with a series of multi or oligopotent hematopoietic progenitor populations, including the most immature CD34+CD1a-CD7- subset of early thymic precursors. Within these interface acute leukemias (IALs), transcriptional resemblance to early lymphoid progenitor populations and biphenotypic leukemias was more evident in cases originally diagnosed as AML, rather than T-ALL. Further prognostic analyses revealed that expression of IAL transcriptional programs significantly correlated with poor outcome in independent AML patient cohorts. Our results suggest that traditional binary approaches to acute leukemia categorization are reductive, and that identification of IALs could allow better treatment allocation and evaluation of therapeutic options.
Identification of Familial Hodgkin Lymphoma Predisposing Genes Using Whole Genome Sequencing
Authors: Srivastava Aayushi , Giangiobbe Sara , Kumar Abhishek , Dymerska Dagmara , Behnisch Wolfgang , Witzens-Harig Mathias , Lubinski Jan , Hemminki Kari , Försti Asta , Bandapalli Obul Reddy 
Published: December 2019

AbstractHodgkin lymphoma (HL) is a lymphoproliferative malignancy of B-cell origin that accounts for 10% of all lymphomas. Despite evidence suggesting strong familial clustering of HL, there is no clear understanding of the contribution of genes predisposing to HL. In this study, whole genome sequencing (WGS) was performed on 7 affected and 9 unaffected family members from three HL-prone families and variants were prioritized using our Familial Cancer Variant Prioritization Pipeline (FCVPPv2). WGS identified a total of 98564, 170550 and 113654 variants which were reduced by pedigree-based filtering to 18158, 465 and 26465 in families I, II and III, respectively. In addition to variants affecting amino acid sequences, variants in promoters, enhancers, transcription factors binding sites and microRNA seed sequences were identified from upstream, downstream, 5’ and 3’ untranslated regions. A panel of 565 cancer predisposing and other cancer-related genes and of 2383 high-risk HL genes were also screened in these families to aid further prioritization. Pathway analysis of segregating genes with CADD (Combined Annotation Dependent Depletion Tool) scores > 20 was performed using Ingenuity Pathway Analysis software which implicated several candidate genes in pathways involved in B-cell activation and proliferation and in the network of “Cancer, Hematological disease and Immunological Disease”. We used the FCVPPv2 for further in silico analysis and prioritized 45 coding and 79 non-coding variants from the three families. Further literature-based analysis allowed us to constrict this list to one rare germline variant each in families I and II and two in family III. Functional studies were conducted on the candidate from family I in a previous study, resulting in the identification and functional validation of a novel heterozygous missense variant in the tumor suppressor gene DICER1 as potential HL predisposition factor. We aim to identify the individual genes responsible for predisposition in the remaining two families and will functionally validate these in further studies.
Development of a Mixture Model (SMM) Allowing for Smoothing Functions of Trajectories
Authors: Ding Ming , Chavarro Jorge E. , Fitzmaurice Garrett M. 
Published: December 2019

ABSTRACTIn the health and social sciences, two types of mixture model have been widely used by researchers to identify heterogeneous trajectories of participants within a population: latent class growth analysis (LCGA) and the growth mixture model (GMM). Both methods parametrically model trajectories of individuals, and capture latent trajectory classes, by using an expectation-maximization (E-M) algorithm. However, parametric modeling of trajectories using polynomial functions or monotonic spline functions results in limited flexibility for modelling trajectories; as a result, group membership may not be classified accurately due to model misspecification. In this paper, we propose a mixture model (SMM) allowing for smoothing functions of trajectories using a modified E-M algorithm. In the E step, participants are reassigned to only one group for which the estimated trajectory is the most similar to the observed one; in the M step, trajectories are fitted using generalized additive mixed models (GAMM) with smoothing functions of time. This modified E-M algorithm is straightforward to implement using the recently released “gamm4” macro in R. The SMM can incorporate time-varying covariates and be applied to longitudinal data with normal, Bernoulli, and Poisson distributions. Simulation results show favorable performance of the SMM in terms of classification of group membership. The proposed method is illustrated by its application to body mass index data of individuals followed from adolescence to young adulthood and the relationship with incidence of cardiometabolic disease.
Evaluation and classification of severity for 176 genes on an expanded carrier screening panel
Authors: Arjunan Aishwarya , Bellerose Holly , Torres Raul , Ben-Shachar Rotem , Hoffman Jodi D. , Angle Brad , Slotnick Robert Nathan , Simpson Brittany N. , Lewis Andrea M. , Magoulas Pilar L. , Bontempo Kelly , Schulze Jeanine , Tarpinian Jennifer , Bucher Jessica A , Dineen Richard , Goetsch Allison , Lazarin Gabriel A. , Taber Katherine Johansen 
Published: December 2019

AbstractBackgroundSeverity is an important factor for inclusion of diseases on expanded carrier screening (ECS) panels. Here, we applied a validated algorithm that objectively classifies diseases into severity categories to 176 genes on a clinically available ECS panel. We then mapped disease traits from the algorithm to severity-related criteria cited by the American College of Obstetricians and Gynecologists (ACOG).MethodsEight genetic counselors (GCs), followed by four medical geneticists (MDs), applied the algorithm to subsets of the 176 genes. MDs and GCs then determined which disease traits met ACOG severity criteria.ResultsUpon initial GC and MD review, 107/176 genes (61%) and 133/176 genes (76%), respectively, had concordant classifications, with consensus reached for all genes. Final severity classifications were 68 (39%) profound, 71 (40%) severe, 36 (20%) moderate, and one (1%) mild. The vast majority of genes (170 out of 176) met at least one of ACOG’s four severity criteria.ConclusionThis study classified the severity of a large set of Mendelian genes by collaborative clinical expert application of an algorithm. Further, it clarified and operationalized difficult to interpret ACOG severity criteria via mapping of disease traits, thereby promoting consistency of ACOG criteria interpretation across laboratories.What’s already known about this topic?Disease severity is an important consideration for disease inclusion on expanded carrier screening panels.An algorithm that objectively classifies diseases into severity categories has been published and validated.What does this study add?176 genes were classified into severity categories.The algorithm was used to bring clarity to American College of Obstetricians and Gynecologist’s (ACOG’s) severity criteria that are not easily interpretable.170 of 176 genes met at least one of ACOG’s severity criteria.Data Availability StatementThe data that support the findings of this study have been completely reported in this manuscript and shared in the Figures and Supplementary Material.
Confidence in perceptual decision-making is preserved in schizophrenia
Authors: Faivre Nathan , Roger Matthieu , Pereira Michael , de Gardelle Vincent , Vergnaud Jean-Christophe , Passerieux Christine , Roux Paul 
Published: December 2019

AbstractMetacognition is the set of reflexive processes allowing humans to evaluate the accuracy of their mental operations. Deficits in synthetic metacognition have been described in schizophrenia using mostly narrative assessment and linked to several key symptoms. Here, we assessed metacognitive performance by asking individuals with schizophrenia or schizoaffective disorder (N=20) and matched healthy participants (N = 21) to perform a visual discrimination task and subsequently report confidence in their performance. Metacognitive performance was defined as the adequacy between visual discrimination performance and confidence. Bayesian analyses revealed equivalent metacognitive performance in the two groups despite a weaker association between confidence and trajectory tracking during task execution among patients. These results were reproduced using a bounded evidence accumulation model which showed similar decisional processes in the two groups. The inability to accurately attune confidence to perceptual decisions in schizophrenia remains to be experimentally demonstrated, along with the way such impairments may underpin functional deficits.
Gut Health, Nutrient intake and Well-being in Community-Dwelling Older Adults
Authors: Fart F. , Tingö L. , Engelheart S. , Lindqvist C. M. , Brummer R. J. , Kihlgren A. , Schoultz I. 
Published: December 2019

AbstractBackgroundA majority of community-dwelling older people will in the near future be in need of increased health care. By investigating the relationship between gut health, well-being and nutrient intake we aim to recognize areas through which health might be promoted.MethodsA cross-sectional observational study was performed enrolling 229 older adults (≥65 years). Validated questionnaires were used to assess gut health, nutrient intake and well-being.Results65% of the participant experienced gastrointestinal symptoms. Gastrointestinal symptoms significantly correlated to anxiety, stress and decreased quality of life. Dyspepsia correlated to a lower energy percentage of protein. An intake below the nutritional recommendations was found for protein, fibre, fat (monounsaturated/polyunsaturated), while an intake above the recommendations was found for saturated fats and alcoholDiscussionA majority of the community-dwelling older adults experienced gastrointestinal symptoms and had an imbalanced macronutrient intake. Gut health, diet and well-being all represents important areas for future intervention studies.
Habitat loss in the restricted range of the endemic Ghanaian cichlidLimbochromis robertsi
Authors: Lamboj A. , Lucanus O. , Osei Darko P. , Arroyo-Mora J.P , Kalacska M 
Published: December 2019

ABSTRACTRemote sensing, through satellite image analysis has become an integral and invaluable tool to inform biodiversity conservation and monitoring of habitat degradation and restoration over time. Despite the disproportionately high levels of biodiversity loss in freshwater ecosystems worldwide, ichthyofauna are commonly overlooked in favor of other keystone species. Freshwater fish, as indicators of overall aquatic ecosystem health can also be indicators of larger scale problems within an ecosystem. If endemic and specialized fishes are at risk, the forest and landscape around their habitat is also undergoing change. As a case study demonstrating the utility of multi-temporal, multi-resolution satellite imagery, we examined deforestation and forest fragmentation around the Atewa Forest Reserve, south eastern Ghana. Within small creeks,Limbochromis robertsi, a unique freshwater cichlid with an extremely limited distribution range can be found. Historically, the land cover in the area has undergone substantial deforestation for agriculture and artisanal small-scale mining, primarily for gold. We found deforestation accelerated along with increased forest fragmentation in the 2014 – 2017 period with the majority of the forest loss along the river and creek banks due to small-scale mining operations and increased agriculture. Field visits indicate a decrease in the total population by approximately 90% from the early 1990s to 2018. We illustrate the benefits of determining landscape metrics from local scale remote sensing studies as proxies to assess the decline of endemic species with restricted ranges, whose habitat characteristics and the subsequent pressures they face require detailed analysis at fine temporal and spatial scales not captured by global or continental scale datasets.
Therapeutic Targeting of 15-PGDH in Murine Idiopathic Pulmonary Fibrosis
Authors: Smith Julianne N.P. , Witkin Matthew D. , Jogasuria Alvin P. , Christo Kelsey F. , Raffay Thomas M. , Markowitz Sanford D. , Desai Amar B. 
Published: December 2019

AbstractIdiopathic pulmonary fibrosis (IPF) is a progressive disease characterized by interstitial remodeling and pulmonary dysfunction. The etiology of IPF is not completely understood but involves pathologic inflammation and subsequent failure to resolve fibrosis in response to epithelial injury. Therapeutic strategies for IPF are limited to anti-inflammatory and immunomodulatory agents, which are only partially effective. Prostaglandin E2 (PGE2) disrupts TGFβ signaling and suppresses myofibroblast differentiation, however practical strategies to raise tissue PGE2 during IPF have been limited. We previously described the discovery of a small molecule, (+)SW033291, that binds with high affinity to the PGE2-degrading enzyme 15-hydroxyprostaglandin dehydrogenase (15-PGDH) and increases PGE2 levels. Here we evaluated pulmonary 15-PGDH expression and activity and tested whether pharmacologic 15-PGDH inhibition (PGDHi) is protective in a mouse model of bleomycin-induced IPF. Long-term PGDHi was well-tolerated, reduced the severity of pulmonary fibrotic lesions and extracellular matrix remodeling, and improved pulmonary function in bleomycin-treated mice. Moreover, PGDHi attenuated both acute inflammation and weight loss, and decreased mortality. Endothelial cells and macrophages are likely targets as these cell types highly expressed 15-PGDH. In conclusion, PGDHi ameliorates inflammatory pathology and fibrosis in murine IPF, and may have clinical utility to treat human disease.Article summaryIn IPF, lung epithelial injury leads to local inflammation and fibrosis, which impairs pulmonary function. Inhibition of 15-PGDH using a well-tolerated small molecule attenuates inflammation and prevents pulmonary fibrosis and dysfunction in a mouse model of bleomycin-induced IPF.
Modulating brain networks with transcranial magnetic stimulation over the primary motor cortex: a concurrent TMS/fMRI study
Authors: Jung JeYoung , Bungert Andreas , Bowtell Richard , Jackson Stephen R. 
Published: December 2019

AbstractStimulating the primary motor cortex (M1) using transcranial magnetic stimulation (TMS) causes unique multisensory experience such as the targeted muscle activity, afferent/reafferent sensory feedback, tactile sensation over the scalp and ‘click’ sound. Although the human M1 has been intensively investigated using TMS, the experience of the M1 stimulation has not been elucidated at the whole brain. Here, using concurrent TMS/fMRI, we investigated the acute effect of the M1 stimulation of functional brain networks during task and at rest. A short 1Hz train of TMS pulses applied to individuals’ hand area in the M1 during motor execution or at rest. Employing the independent component analysis (ICA), we showed the M1 stimulation decreased the motor networks activity when the networks were engaged in the task and increased the deactivation of networks when the networks were not involved in the ongoing task. The M1 stimulation induced the activation in the key networks involved in bodily self-consciousness (BSC) including the insular and rolandic operculum systems regardless of states. The degree of activation in these networks was highest at rest compared to during task, showing the state-dependent TMS effect. Furthermore, we demonstrated that the M1 stimulation modulated other domain general networks such as the default mode network and attention network and the inter-network connectivity between these networks. Our results showed that the M1 stimulation induced the widespread changes in the brain at the targeted system as well as non-motor, remote brain networks, specifically related to the BSC. Our findings shed light on understanding the neural mechanism of the complex and multisensory experience of the M1 stimulation.
The hippocampus and dorso-lateral striatum link distinct types of memories through time and space, respectively
Authors: Ferbinteanu Janina 
Published: December 2019

ABSTRACTSeveral decades of research have established that different kinds of memories result from the activity of discrete neural networks. Studying how these networks process information in experiments that target specific types of mnemonic representations has provided deep insights into memory architecture and its neural underpinnings. However, in natural settings reality confronts organisms with problems that are not neatly compartmentalized. Thus, a critical problem in memory research that still needs to be addressed is how distinct types of memories are ultimately integrated. Here we demonstrate how two memory networks, the hippocampus and dorso-lateral striatum, may accomplish such a goal. The hippocampus supports memory for facts and events, collectively known as declarative memory and often studied as spatial memory in rodents. The dorso-lateral striatum (putamen in primates) provides the basis for habits which are assessed in stimulus-response types of tasks. Expanding previous findings, the current work revealed that the hippocampus and dorso-lateral striatum use time and space in distinct and largely complementary ways to link spatial and habitual representations. Specifically, the hippocampus supported both types of memories when they were formed in temporal juxtaposition even if the learning took place in different environments. In contrast, the lateral striatum supported both types of memories if they were formed in the same environment even if at temporally distinct points. These results reveal for the first time that by using fundamental aspects of experience in specific ways, the hippocampus and dorso-lateral striatum can transcend their attributed roles in information storage.SIGNIFICANCE STATEMENTThe current paradigm in memory research postulates that different types of memories reflected in separate types of behavioural strategies result from activity in distinct neural circuits. However, recent data have shown that when rats concurrently acquired in the same environment hippocampal-dependent spatial navigation and striatal-dependent approach of a visual cue, each of the two types of memories became dependent on both the hippocampus and dorso-lateral striatum. The current work reveals that the hippocampus and dorso-lateral striatum utilize distinct and complementary principles to integrate different types of memories in time and space: the hippocampus links memories formed in temporal proximity, while the lateral striatum links memories formed in the same space.