bluuebunny/crossref_metadata_2025_split huggingface dataset:
Call for Action: High Rates of Depression in the Pediatric Celiac Disease Population Impacts Quality of Life
Authors: Jericho Hilary , Khan Narmeen , Cordova Jonathan , Sansotta Naire , Guandalini Stefano , Keenan Kate 
Published: July 2021

Objective:
To test the impact of celiac disease (CD) and depression symptoms on quality of life in adolescent patients.

Methods:
We conducted a prospective survey of 12- to 18-year-old celiac patients and their caregivers between January 2015 and November 2016. Enrolled parents and youth completed standard measures of adjustment to celiac disease, depression, and quality of life.

Results:
We enrolled 105 patients with CD and their parents. Both parents and youth reported high levels of depression symptoms. There were no associations between age, duration of CD, or following a gluten-free diet (GFD) and quality of life. No significant associations were found between adolescent perception of CD state and quality of life; parental report of adolescent’s adjustment to CD; and youth report of quality of life were modestly associated (r = 0.19, P ≤ 0.05). Moderate associations were observed between adolescent reports of depression and quality of life (r = 0.59, P < 0.01) and between parental reports of adolescent depression and quality of life (r = 0.41, P = 0.01). Only depressive symptoms by youth and parent report, however, and not adjustment to celiac, explained unique variance in quality of life.

Conclusion:
Adolescents with CD report levels of depression comparable to those reported by adolescents seeking mental health services. Length of time living with CD, or on GFD, age at diagnosis and perception of disease state do not appear to contribute to depression. High rates of depression may impact CD prognosis, therefore, screening for depression in adolescents with CD appears critical. Identification and intervention of depression may lead to improved adherence to the GFD during emerging adulthood.
Chest Computed Tomography Features of Nontuberculous Mycobacterial Pulmonary Disease Versus Asymptomatic Colonization
Authors: Garcia Bryan , Wilmskoetter Janina , Grady Abigail , Mingora Christina , Dorman Susan , Flume Patrick 
Published: July 2021

Background:
Asymptomatic colonization by nontuberculous mycobacteria (NTM) found in sputum isolates are commonly encountered and clinicians lack a biomarker for prognosticating the risk of transition asymptomatic colonization to active clinical disease. Chest computed tomography (CT) imaging is commonly obtained in this patient population and may serve a role for this purpose.

Methods:
We conducted a single-center, cross-sectional study of patients followed in the NTM clinic at our center between August 2019 and August 2020. All patients had a history of NTM isolated from their airways and were cohorted as either nontuberculous mycobacteria-pulmonary disease (NTM-PD) if they met ATS/IDSA guidelines for treatment or as nontuberculous mycobacteria-colonized (NTM-C) if they did not meet ATS/IDSA criteria for NTM treatment. Patients with a chest CT were included in the analysis and CT scans were assessed for features including bronchiectasis, nodules, and cavities. Bronchiectasis severity was calculated using the modified Reiff scoring system. Univariate analyses were conducted to compare patients with NTM-C and NTM-PD.

Results:
Eighty-four patients were included in the analysis and 27 were classified as NTM-C and 57 as NTM-PD. NTM-PD patients had a greater median number of lung lobes affected by bronchiectatic airways (6 [1] NTM-PD vs. 5 [3] NTM-C P=0.005) and a greater frequency of cystic bronchiectasis (17.5% NTM-PD vs. 0% NTM-PD, P=0.016). Bronchiectasis severity was higher for NTM-PD patients (7 [9] NTM-PD vs. 5 [1.5] NTM-C, P<0.001).

Conclusions:
Patients with NTM-PD have greater bronchiectatic airway involvement and the forms of bronchiectasis present are more severe compared with NTM-C patients. In addition, cavitation of lung parenchyma was a radiographic feature solely associated with NTM-PD. Features identified on chest CT may be useful as a prognostic biomarker for the risk of transition from NTM-C to NTM-PD.
Late Presenting Multi-Suture Craniosynostosis
Authors: Dibbs Rami P. , Beh Han Zhuang , Donoho Daniel A. , Davies Lesley W. , Ferry Andrew M. , Bauer David F. , Buchanan Edward P. 
Published: July 2021

Abstract
The authors provide the case of a 6-year-old male who presented late with multi-suture craniosynostosis and chronically elevated intracranial pressures (ICPs). He was surgically managed with frontal orbital advancement. This particular case illustrates the significant bleeding and unique bony pathology that can occur in patients with high ICP with concomitant venous collateralization. At 1-month follow-up, he demonstrated significant improvement with maintained expansion and no signs of elevated ICP despite delayed intervention. Frontal orbital advancement serves as an effective method for cranial vault expansion and correction of frontal deformities caused by craniosynostosis.
Optical Coherence Tomography Is Associated With Cognitive Impairment in Multiple Sclerosis
Authors: Dreyer-Alster Sapir , Gal Aviva , Achiron Anat 
Published: July 2021

Background:
Optical coherence tomography (OCT) is a sensitive method for quantifying retinal neuronal and axonal structures. Reductions in retinal nerve fiber layer (RNFL) and ganglion cell inner plexiform layer (GCIPL) thicknesses have a reported association with white and grey matter atrophy in multiple sclerosis (MS). We hypothesized that the thinning of intraretinal layer measurements associates with cognitive decline in MS patients with no prior event of optic neuritis (ON).

Methods:
OCT and NeuroTrax computerized cognitive assessments were performed in 204 relapsing remitting MS patients with no history of ON or other conditions affecting the eye. Data were collected between 2010 and 2020 and retrospectively analyzed. Correlations were examined between cognitive performance and a lower RNFL or GCIPL thickness. A multilinear regression model was generated to assess the significance of these correlations regarding the disability score and disease duration.

Results:
The 204 study participants had a mean age of 40.52 ± 11.8 years (mean ± SD) and disease duration of 9.80 ± 9.40 years. The mean RNFL thickness in this whole cohort was 82.22 ± 10.85 μm and the global cognitive score was 95.32 ± 12.32. The mean GCIPL thickness measured in a subgroup of 104 patients was 74.27 ± 10.37 μm. The RNFL and GCIPL both correlated with the global cognitive score (r = 0.174, P = 0.013 and r = 0.29, P = 0.03, respectively), and with various cognitive domains. However, the GCIPL showed stronger correlations than RNFL, particularly with executive function (r = 0.29, P = 0.003), attention (r = 0.332, P = 0.001), and the information processing speed (r = 0.25, P = 0.012). These correlations remained significant after correcting for confounders.

Conclusion:
OCT measurements correlate with cognitive performance in MS patients. OCT can thus be used to evaluate central nervous system neurodegeneration in MS, as reflected by cognitive decline.
Stronger Microstructural Damage Revealed in Multiple Sclerosis Lesions with Central Vein Sign by Quantitative Gradient Echo MRI
Authors: Levasseur Victoria A. , Xiang Biao , Salter Amber , Yablonskiy Dmitriy A. , Cross Anne H. 
Published: July 2021

AbstractBackgroundMultiple sclerosis (MS) lesions typically form around a central vein that can be visualized with FLAIR* MRI, creating the central vein sign (CVS) which may reflect lesion pathophysiology. Herein we used Gradient Echo Plural Contrast Imaging (GEPCI) MRI to simultaneously visualize CVS and measure tissue damage in MS lesions. We examined CVS in relation to tissue integrity in white matter (WM) lesions and among MS subtypes.Subjects and MethodsThirty relapsing–remitting MS (RRMS) subjects and 38 progressive MS (PMS) subjects were scanned with GEPCI protocol. GEPCI T2*-SWI images were generated to visualize CVS. Two investigators independently evaluated WM lesions for CVS and measured lesion volumes. To estimate tissue damage severity, total lesion volume, mean lesion volume, R2t*-based tissue damage score (TDS) of individual lesions and tissue damage load (TDL) were measured for CVS+, CVS-, and confluent lesions. Spearman correlations were made between MRI and clinical data. A paired t-test was used to compare measurements of CVS+ versus CVS- lesions in each individual.Results398 of 548 lesions meeting inclusion criteria showed CVS. Most patients had ≥ 40% CVS+ lesions. CVS+ lesions were present in similar proportion among MS subtypes. Interobserver agreement was high for CVS detection. CVS+ and confluent lesions had higher average and total volumes versus CVS- lesions. CVS+ and confluent lesions had more tissue damage than CVS- lesions based on TDL and mean TDS.ConclusionCVS occurred in RRMS and PMS in similar proportions. CVS+ lesions had greater tissue damage and larger size than CVS- lesions.
Visual and refractive status of children with Down’s syndrome and nystagmus
Authors: Zahidi Asma A A , McIlreavy Lee , Erichsen Jonathan T , Woodhouse J Margaret 
Published: July 2021

AbstractBackground/AimsChildren with Down’s syndrome (DS) are known to have poorer visual acuity that neurotypical children. One report has shown that children with DS and nystagmus also have poor acuity when compared to typical children with nystagmus. What has not been established, is the extent of any acuity deficit due to nystagmus and whether nystagmus impacts on refractive error is within a population with DS.MethodsClinical records from The Cardiff University Down’s Syndrome Vision Research Unit were examined retrospectively. Binocular visual acuity and refraction data were available for 50 children who had DS and nystagmus (DSN) and 176 children who had DS but no nystagmus. Data were compared between the two groups, and with published data for neurotypical children with nystagmus.ResultsThe study confirms the deficit in acuity in DS, compared to neurotypical children, of approximately 0.2 LogMAR and shows a further deficit attributable to nystagmus of a further 0.2 logMAR beyond the first year of life. Children with DS and no nystagmus appear to have acuity that mirrors that of typical children with nystagmus, while children with both DS and nystagmus have a significant additional impairment. Children with DS have a wide range of refractive errors, but nystagmus increases the likelihood of myopia. Prevalence and axis direction of astigmatism, on the other hand appears unaffected by nystagmus.ConclusionNystagmus confers an additional visual impairment on children with Down’s syndrome and must be recognised as such by families and educators. Children with both DS and nystagmus clearly need targeted support.
Effect ofBacillus coagulansUnique IS-2 in Inflammatory Bowel Disease (IBD): A Randomized Controlled Trial
Authors: Bamola V Deepak , Dubey Divya , Samanta Projoyita , Kedia Saurabh , Madempudi Ratna Sudha , Neelamraju Jayanthi , Ahuja Vineet , Chaudhry Rama 
Published: July 2021

AbstractProbiotic intervention is an important approach for the treatment and health restoration in inflammatory bowel disease (IBD). A study was conducted to assess the effect ofBacillus coagulansUnique IS-2 in IBD patients. Recruited subjects were given either probioticB. coagulansUnique IS-2 or placebo for 4 weeks as per randomization. Survival of the given probiotic strain in GI, presence of beneficial gut bacteria, serum cytokines, serum serotonin and serum dopamine, symptoms of disease, physical, behavioral and psychological parameters of the subjects were evaluated before and after intervention. In this studyB. coagulansUnique IS-2 was well tolerated with no severe adverse events in IBD patients and demonstrated good survival in GI tract by significantly high detection in probiotic treated group (p <0.001). Significant enhancement in beneficialLactobacilliwas observed in probiotic treated group (p <0.01). Metagenomic analysis also showed an increase in the abundance of bacterial generaBacillus, Lactobacillus, Bifidobacterium, Faecalibacterium, Bacteroides, Megamonas, Lachnospira, Blautia, Alistipes and decrease inSutterella, Dialister, Roseburia and Megasphaerawas observed in the post intervention samples in the treatment group. Increased secretion of cytokine IL-10 and variable decrease in the secretion of IL-6, IL-1β, TNF-α, IL -17 and IL -23 was observed in in the probiotic treated group. Post intervention change in serum serotonin and serum dopamine was not significant in both the groups. A reduction in the severity of disease symptoms and improvement in the physical, behavioral and psychological parameter was observed in the probiotic treated group. The observed results demonstrated thatB. coagulansUnique IS-2 with SMT was effective in adult IBD patients. Study was registered with Clinical Trials Registry India (CTRI) - (registration no.-CTRI/2019/11/022087).
On dynamics of fractional incommensurate model of Covid-19 with nonlinear saturated incidence rate
Authors: hamou Abdelouahed Alla , Azroul Elhoussine , Hammouch Zakia , alaoui Abdelilah Lamrani 
Published: July 2021

AbstractIn December 2019, a new virus belonging to the coronavirus strain has been discovered in Wuhan, China, this virus has attracted world-wide attention and it spread rapidly in the world, reaching nearly 216 countries in the world in November 2020. In this chapter, we study the fractional incommensurate SIQR (susceptible, infections,quarantined and removed) COVID-19 model with nonlinear saturated incidence rate using Atangana–Baleanu fractional derivatives. The existence and uniqueness of the solutions for the fractional model is proved using fixed point theorem, the model are shown to have two equilibrium point (disease-free and an endemic equilibrium). Some numerical simulations using Euler method are also carried out to support our theoretical results. We estimated the value of the fractional orders and the parameters of the proposed model using the least squares method.. Further, the sensitivity analysis of the parameter is performed as a result, our incommensurate model gives a good approximation to real data of COVID-19.
Structural changes to primary visual cortex in the congenital absence of cone input in achromatopsia
Authors: Molz Barbara , Herbik Anne , Baseler Heidi A. , de Best Pieter B. , Vernon Richard , Raz Noa , Gouws Andre , Ahmadi Khazar , Lowndes Rebecca , McLean Rebecca J. , Gottlob Irene , Kohl Susanne , Choritz Lars , Maguire John , Kanowski Martin , Käsmann-Kellner Barbara , Wieland Ilse , Banin Eyal , Levin Netta , Hoffmann Michael B. , Morland Antony B. 
Published: July 2021

AbstractAutosomal recessive Achromatopsia (ACHM) is a rare inherited disorder associated with dysfunctional cone photoreceptors resulting in a congenital absence of cone input to visual cortex. This might lead to distinct changes in cortical architecture with a negative impact on the success of gene augmentation therapies. To investigate the status of the visual cortex in these patients, we performed a multi-centre study focusing on the cortical structure of regions that normally receive predominantly cone input. Using high-resolution T1-weighted MRI scans and surface-based morphometry, we compared cortical thickness, surface area and grey matter volume in foveal, parafoveal and paracentral representations of primary visual cortex in 15 individuals with ACHM and 42 normally sighted, healthy controls (HC). In ACHM, surface area was reduced in all tested representations, while thickening of the cortex was found highly localized to the most central representation. These results were comparable to more widespread changes in brain structure reported in congenitally blind individuals, suggesting similar developmental processes, i.e., irrespective of the underlying cause and extent of vision loss. Our findings indicate that there may be an optimum time window for gene therapy to counteract developmental cortical changes related to the absence of sensory input.HighlightsWe assessed cortical anatomy of a large cohort of patients with genetically confirmed cone photoreceptor dysfunction (achromatopsia) using surface-based morphometry.We found widespread reduction in cortical surface area across foveal, parafoveal and paracentral proportions of primary visual cortex in participants with achromatopsia.highly localized cortical thickening in participants with achromatopsia at the region of visual cortex that lacked inputs from the retinal region occupied solely by cones.Further evidence that the visual cortex is unlikely to take on normal properties if vision were restored after the developmental plastic period.Early intervention is preferable when considering vision restoration treatment in achromatopsia.
Characterization of SARS CoV-2 Antibodies in Breast Milk from 21 Women with Confirmed COVID-19 Infection
Authors: Bode Lars , Bertrand Kerri , Najera Julia A. , Furst Annalee , Honerkamp-Smith Gordon , Shandling Adam D. , Chambers Christina D. , Camerini David , Campo Joseph J. 
Published: July 2021

AbstractOne potential mechanism for protection from SARS-CoV-2 in infants and young children is through passive immunity via breast milk from a mother previously infected with the novel coronavirus. The primary objectives of this study were to establish the presence of SARS-CoV-2 specific IgA and IgG and to characterize the specific antigenic regions of SARS-CoV-2 proteins that were reactive with antibodies in breast milk from women with confirmed SARS-CoV-2 infection.Between March 2020 and September 2020, 21 women with confirmed SARS-CoV-2 infection were enrolled into Mommy’s Milk at the University of California, San Diego. Women donated serial breast milk samples. Breast milk samples were used to probe a multi-coronavirus protein microarray containing full-length proteins and variable length overlapping fragments of SARS-CoV-2 spike (S), envelope (E), membrane (M), nucleocapsid (N), and open reading frame (ORF) proteins.The breast milk samples contained IgA reactive with a variety of SARS-CoV-2 antigens. The most IgA-reactive SARS-CoV-2 proteins were N (42.9% of women responded to 1 ≥ N fragment) and S proteins (23.9% of women responded to ≥ 1 fragment of S1 or S2). Overall, individual COVID-19 cases had diverse and unique milk IgA profiles over the course of follow-up since onset of SARS-CoV-2 symptoms.
Deep learning-based identification of genetic variants: Application to Alzheimer’s disease classification
Authors: Jo Taeho , Nho Kwangsik , Bice Paula , Saykin Andrew J. ,   for the Alzheimer’s Neuroimaging Initiative
Published: July 2021

AbstractDeep learning is a promising tool that uses nonlinear transformations to extract features from high-dimensional data. Deep learning is challenging in genome–wide association studies (GWAS) with high-dimensional genomic data. Here we propose a novel three-step approach (SWAT-CNN) for identification of genetic variants using deep learning to identify phenotype-related single nucleotide polymorphisms (SNPs) that can be applied to develop accurate disease classification models. In the first step, we divided the whole genome into non-overlapping fragments of an optimal size and then ran Convolutional Neural Network (CNN) on each fragment to select phenotype-associated fragments. In the second step, using a Sliding Window Association Test (SWAT), we ran CNN on the selected fragments to calculate phenotype influence scores (PIS) and identify phenotype-associated SNPs based on PIS. In the third step, we ran CNN on all identified SNPs to develop a classification model. We tested our approach using GWAS data from the Alzheimer’s Disease Neuroimaging Initiative (ADNI) including (N=981; cognitively normal older adults (CN) =650 and AD=331). Our approach identified the well-known APOE region as the most significant genetic locus for AD. Our classification model achieved an area under the curve (AUC) of 0.82, which was compatible with traditional machine learning approaches, Random Forest, and XGBoost. SWAT-CNN, a novel deep learning-based genome-wide approach, identified AD-associated SNPs and a classification model for AD and may hold promise for a range of biomedical applications.
Impaired learning, memory, and extinction in posttraumatic stress disorder: translational meta-analysis of clinical and preclinical studies
Authors: Sep Milou S.C. , Geuze Elbert , Joëls Marian 
Published: July 2021

AbstractBackgroundCurrent evidence-based treatments for post-traumatic stress disorder (PTSD) are efficacious in only part of PTSD patients. Therefore, novel neurobiologically-informed approaches are urgently needed. Clinical and translational neuroscience point to altered learning and memory processes as key in (models of) PTSD psychopathology. We extended this notion by clarifying at a meta-level i) the role of information valence, i.e. neutral versus emotional/fearful, and ii) comparability between clinical and preclinical phenotypes. We hypothesized that, cross-species, neutral versus emotional/fearful information processing is, respectively, impaired and enhanced in PTSD.MethodsThis preregistered meta-analysis involved a literature search on PTSD+Learning/Memory+Behavior, performed in PubMed. First, the effect of information valence was estimated with a random-effects meta-regression. Then sources of variation were explored with a random forest-based analysis.ResultsThe analyses included 92 clinical (N=6732 humans) and 182 preclinical (N=6834 animals) studies. A general impairment of learning, memory and extinction processes was observed in PTSD patients, regardless of information valence. Impaired neutral learning/memory and fear extinction were also present in animal models of PTSD. Yet, PTSD enhanced fear/trauma memory in preclinical studies and impaired emotional memory in patients. Clinical data on fear/trauma memory was limited. Mnemonic phase and valence explained most variation in rodents but not humans.ConclusionsImpaired neutral learning/memory and fear extinction show very stable cross-species PTSD phenotypes. These could be targeted for novel PTSD treatments, building on neurobiological animal studies. We argue that seemingly cross-species discrepancies in emotional/fearful memory deserve further study; until then animal models targeting this phenotype should be applied with care.