bluuebunny/crossref_metadata_2025_split huggingface dataset:
Long-term Outcome of Pediatric Liver Transplant Recipients Who Have Reached Adulthood: A Single-center Experience
Authors: Lund Louisa Katharina , Grabhorn Enke Freya , Rüther Darius , Buchholz Angela , Lang Melanie , Herden Uta , Fischer Lutz , Sterneck Martina 
Published: February 2023

Background.
As long-term survival of pediatric liver transplant recipients increases, the assessment of physical, psychological, and social well-being becomes more important.

Methods.
In this retrospective analysis, 120 young adult patients (age ≥18 y) who underwent liver transplantation in childhood were studied. Patients with ideal outcome were defined as patients with perfect graft function, with no complications from the immunosuppressive medication, no late retransplantation, and no steroid treatment. Also, the patients’ drug adherence and their psychosocial situation were assessed.

Results.
After a median follow-up of 19 y, only 16.7% of the patients (mean age: 26.5 y) were considered patients with ideal outcome. The main reasons precluding ideal outcome were chronic kidney disease (38.3%), elevated liver enzymes (33.3%), and arterial hypertension (31.7%). Ideal outcome decreased over time from 54% to 42%, 26%, and 8% at 10-, 15-, 20-, and 25-y follow-up, respectively. Reduced drug adherence was noted in 24.8% of patients and associated with a significantly higher prevalence of donor-specific antibodies class II (P = 0.015), elevated transaminases (P = 0.010), and chronic rejection (P < 0.001). Also, 15% of patients had a psychiatric disease, mainly depression.

Conclusions.
The morbidity of young adults who underwent liver transplantation as children was high and increased over time. The majority developed complications from immunosuppression or chronic graft dysfunction. More than 1 in 7 patients had a psychiatric disease and 1 in 4 was not perfectly drug adherent. Therefore, immunosuppressive treatment and psychological care should be optimized for these particularly vulnerable patients.
Gray Matter Volume as Evidence for Cognitive Reserve in Bilinguals With Mild Cognitive Impairment
Authors: Calvo Noelia , Anderson John A.E. , Berkes Matthias , Freedman Morris , Craik Fergus I.M. , Bialystok Ellen 
Published: February 2023

Background:
Compared with monolinguals, bilinguals have a later onset of mild cognitive impairment (MCI) and Alzheimer disease symptoms and greater neuropathology at similar cognitive and clinical levels. The present study follows a previous report showing the faster conversion from MCI to Alzheimer disease for bilingual patients than comparable monolinguals, as predicted by a cognitive reserve (CR).

Purpose:
Identify whether the increased CR found for bilinguals in the previous study was accompanied by greater gray matter (GM) atrophy than was present for the monolinguals.

Methods:
A novel deep-learning technique based on convolutional neural networks was used to enhance clinical scans into 1 mm MPRAGEs and analyze the GM volume at the time of MCI diagnosis in the earlier study.

Patients:
Twenty-four bilingual and 24 monolingual patients were diagnosed with MCI at a hospital memory clinic.

Results:
Bilingual patients had more GM loss than monolingual patients in areas related to language processing, attention, decision-making, motor function, and episodic memory retrieval. Bilingualism and age were the strongest predictors of atrophy after other variables such as immigration and education were included in a multivariate model.

Discussion:
CR from bilingualism is evident in the initial stages of neurodegeneration after MCI has been diagnosed.
Determinants associated with infant mortality in Ethiopia: Using the recent 2019 Ethiopia mini demographic and health survey
Authors: Yihuna Yeshambel Kindu , Lakew Abay Kassie , Takele Nigist Mulu , Agelu Seyoum Woldebrehan , Enigda Adane Agegn 
Published: February 2023

AbstractBackgroundInfant mortality is the number of deaths under the age of one year and it is one of the most essential and sensitive indicators of the health status of the country. This study aims to identify the determinants that affect infant deaths in Ethiopia using the 2019 EMDHS.MethodsThis study used the 2019 Ethiopia mini demographic and health survey and 1,397 infants born from mothers who had been interviewed about births in the five years before the survey. The data were first analyzed with a chi-square test of association, and then potential factors were evaluated with binary logistic regression models. An adjusted odds ratio (AOR) along with a 95 % confidence interval (CI) of parameters was used to interpret the resultResultsThe prevalence of infant death was 21%. The study also showed that age at first birth (16-32) infant (AOR = 0.541, 95%CI: 0.353, 0.827), mothers who had breastfed (AOR = 0.022, 95% CI: 0.014,), preceding birth interval less than 24 months (AOR = 0.183, 95% CI 0.117, 0.287), mothers who born their child in the health sector (AOR = AOR = 0.442, 95% CI: 0.304, 0.802) statistically related with a lower risk of infant mortality. Although mothers age group 35-49 (AOR = 2.682 1.446 4.974), mothers who had no ANC visits (AOR = 5.029, 95% CI: 2.923, 8.64), multiple births (AOR = 6.094, 95% CI: 2.684, 13.837, P=0.000) were statistically associated with a higher risk of infant mortality.ConclusionsIt is greatly suggested that maternal and child health care services (ANC visits) are strengthened. Preceding birth interval of fewer than 24 months, multiple births, and please of delivery at home needs special attention. We recommend also health institutions play a great roll to give awareness to mothers about family planning to reduce infant mortality.
Clinical outcome and outcome prediction of octogenarians with acute basilar artery occlusion and endovascular stroke treatment compared to younger patients
Authors: Mutke Matthias Anthony , Zimmermann Amanda , Schmitt Niclas , Seker Fatih , Chen Min , Schönenberger Silvia , Möhlenbruch Markus A. , Bendszus Martin , Weyland Charlotte S. , Jesser Jessica 
Published: February 2023

AbstractBackground and AimsElderly patients, especially octogenarians, are underrepresented in recently published studies, that showed a benefit of endovascular stroke treatment (EST) for patients with acute basilar artery occlusion (BAO). We aimed to compare the clinical outcome of octogenarians with BAO and EST compared to younger patients and to identify independent outcome predictors.MethodsThis is a retrospective, single-center analysis of patients treated for BAO with EST from 01/2013 until 06/2021 in a tertiary stroke center. Octogenarians (≥ 80 years) were compared to younger patients. Study endpoint was the clinical outcome as per modified Rankin Scale (mRS) 90d after stroke onset. The study groups were compared in univariate analysis and a multivariable logistic regression analysis was performed to define independent predictors for clinical outcome.ResultsIn this study cohort, 74/191 (38.7 %) octogenarians had a higher pre-stroke mRS (Median, IQR: 2, 1 – 3 octogenarians vs. 0, 0 – 1 younger patients, p < 0.001) and a comparable NIHSS before EST (Median, IQR: 21, 8 – 34 vs. 22, 10 – 38 younger, p = 0.712). They showed a comparable mRS 90d after stroke onset (Median, IQR: 5, 2 – 6 younger vs. 5, 3 – 6 octogenarians, p = 0.194), but less often a good clinical outcome (mRS 0-2: n = 27, 23% younger vs. n = 9, 11.7% octogenarians, p = 0.004). The rate of bad clinical outcome was comparable (mRS 5-6, n = 63, 46.7% younger vs. 39, 50.6 % octogenarians, p = 0.194). Baseline NIHSS was a stable independent predictor for clinical outcome in both study groups (e.g. for bad clinical outcome: in octogenarians OR 1.04, CI 100 – 10.85, p = 0.0019, in younger OR 1.061, CI 1.027-1.098, p = 0.005)ConclusionOctogenarians with acute BAO eligible for EST are less likely to be functionally independent at 90 days after stroke onset, but the rate of death or severe handicap is comparable to younger patients. The admission NIHSS predicts clinical outcome in both age groups.
First report of genetic variants detected in Argentinian patients with clinical Long QT Syndrome diagnosis
Authors: Leonardo Dionisio , Sofía Stupniki , Eugenio Aztiria , Ezequiel Rías , Leandro Dye , Leonardo Onetto , Franco Gregorietti , Roberto Keegan , Guillermo Spitzmaul 
Published: February 2023

AbstractBackgroundLong QT Syndrome (LQTS) is a genetic cardiac condition in which disease severity and response to pharmacological treatments vary according to genetic variations. In Argentina, most of the LQTS diagnoses are made by clinical exploration and ECG analysis. In this work, we evaluated a group of subjects from our community to correlate their clinical LQTS diagnosis with genetic modifications.Material and methods: Using gDNA isolation, PCR, and exome sequencing, we screened the coding sequences of theKCNQ1, KCNH2, andSCN5Agenes in the studied cohort.ResultsWe identified several DNA changes, among synonymous and non-synonymous, most of them previously described in the literature. In addition, we found a non reported alteration in the sequence ofKCNQ1sequence that suggests the lack (deletion) of an exon or a large part of it indicating exon deletion. 16 which did not allow us to amplify it.ConclusionsThis is the first report of genetic variations in LQTS-associated genes in Argentina. The variations detected could explain the prolongation of the QT interval observed in the ECG of some of the individuals or those with a suspicious family history and could improve treatment, making it more rational as well as providing genetic counselling to first-degree relatives.HighlightsGenetic screening correlates with clinical diagnosis in LQT patientsStudied cases carry more than one variation in at least 2 genes simultaneouslyA Non-reported variation in KCNQ1 exon 16 was founded in one case
GABAergic regulation of auditory repetition suppression in adults with and without Autism Spectrum Disorder
Authors: Huang Qiyun , Velthuis Hester , Pereira Andreia C. , Ahmad Jumana , Cooke Samuel F. , Ellis Claire L. , Ponteduro Francesca M. , Puts Nicolaas A. J. , Dimitrov Mihail , Batalle Dafnis , Wong Nichol M. L. , Kowalewski Lukasz , Ivin Glynis , Daly Eileen , Murphy Declan G. M. , McAlonan Gráinne M. 
Published: February 2023

AbstractSuppressing responses to repetitive sounds, while staying vigilant to rare sounds, is a cross-species trait vital for survival, which is altered in autism spectrum disorder (ASD). Preclinical models implicate ϒ-aminobutyric acid (GABA) in this process. Although differences in GABA genes, post-mortem markers and bulk tissue GABA levels have been observed in ASD, the link between GABA and auditory processing in humans (with or without ASD) is largely correlational. Here, we directly evaluated the role of GABA in auditory repetition suppression in 66 adults (n = 28 with ASD). Neurophysiological responses (temporal and frequency domains) to repetitive standard tones and novel deviants presented in an oddball paradigm were compared after double-blind, randomized administration of placebo, 15 or 30 mg of arbaclofen (STX209), a GABA type B (GABAB) receptor agonist. We first established that temporal mismatch negativity was comparable between control participants and those with ASD. Next, we showed that temporal and spectral responses to repetitive standards were suppressed relative to responses to deviants in the two groups, but suppression was significantly weaker in individuals with ASD at baseline. Arbaclofen reversed weaker suppression of spectral responses in ASD but disrupted suppression in controls. An individual ‘sensitivity index’ of arbaclofen-elicited shift in suppression strongly correlated with autistic symptomatology measured using the Autism Quotient. Thus, our results confirm: GABAergic dysfunction is fundamental to the neurophysiology of auditory sensory processing alterations in ASD, which can be modulated by targeting GABABactivity; and these GABA-dependent sensory differences may be upstream of more complex autistic phenotypes.One Sentence SummaryDifferences in GABAergic function are fundamental to autistic (auditory) sensory neurobiology; but are modulated by targeting GABAB.
Epigenome-wide analysis identifies methylome profiles linked to obsessive-compulsive disorder, disease severity, and treatment response
Authors: Campos-Martin Rafael , Bey Katharina , Elsner Björn , Reuter Benedikt , Klawohn Julia , Philipsen Alexandra , Kathmann Norbert , Wagner Michael , Ramirez Alfredo 
Published: February 2023

AbstractObsessive-compulsive disorder (OCD) is a mental disorder affecting 2-3% of the general population. The dynamic nature of epigenetics provides a unique opportunity to find biomarkers of OCD symptoms, clinical progression, and treatment response. Consequently, we analyzed a case-control study on Illumina Methylation EPIC BeadChip from 185 OCD patients and 199 controls. Patients and controls were assessed by trained therapists using the Structured Clinical Interview for DSM-IV. We identified 12 CpGs capable of classifying OCD patients and predicting symptom severity. These CpGs are enriched withthe sweet-compulsive brain hypothesis, which proposes that OCD patients may have impaired insulin signaling sensitivity due to abnormal dopaminergic transmission in the striatum. Three of the twelve CpG signals were replicated in an independent study reported in the Han Chinese population. Our findings support the role of epigenetic mechanisms in OCD and may help pave the way for biologically-informed and individualized treatment options.
Risk factors for eight common cancers revealed from a phenome-wide Mendelian randomisation analysis of 378,142 cases and 485,715 controls
Authors: Went Molly , Sud Amit , Mills Charlie , Hyde Abi , Culliford Richard , Law Philip , Vijayakrishnan Jayaram , Gockel Ines , Maj Carlo , Schumacher Johannes , Palles Claire , Kaiser Martin , Houlston Richard 
Published: February 2023

ABSTRACTFor many cancers there are few well-established risk factors. Summary data from genome-wide association studies (GWAS) can be used in a Mendelian randomisation (MR) phenome-wide association study (PheWAS) to identify causal relationships. We performed a MR-PheWAS of breast, prostate, colorectal, lung, endometrial, oesophageal, renal, and ovarian cancers, comprising 378,142 cases and 485,715 controls. To derive a more comprehensive insight into disease aetiology we systematically mined the literature space for supporting evidence. We evaluated causal relationships for over 3,000 potential risk factors. In addition to identifying well-established risk factors (smoking, alcohol, obesity, lack of physical activity), we provide evidence for specific factors, including dietary intake, sex steroid hormones, plasma lipids and telomere length as determinants of cancer risk. We also implicate molecular factors including plasma levels of IL-18, LAG-3, IGF-1, CT-1, and PRDX1 as risk factors. Our analyses highlight the importance of risk factors that are common to many cancer types but also reveal aetiological differences. A number of the molecular factors we identify have the potential to be biomarkers. Our findings should aid public health prevention strategies to reduce cancer burden. We provide a R/Shiny app (https://mrcancer.shinyapps.io/mrcan/) to visualise findings.
Moderators of Treatment Outcomes for LGBTQ+ Military Veterans in the PRIDE in All Who Served Health Promotion Group
Authors: Hilgeman Michelle M. , Cramer Robert J. , Kaniuka Andréa R. , Robertson Ryan , Bishop Teddy , Wilson Sarah M. , Sperry Heather A. , Lange Tiffany M. 
Published: February 2023

AbstractBackgroundVeterans who identify as lesbian, gay, bisexual, transgender, queer, questioning, and related identities (LGBTQ+) have faced discrimination that puts them at increased risk for depression, anxiety, and suicide. Upstream interventions like the PRIDE in All Who Served program can improve internalized prejudice, suicide attempt likelihood, symptoms of depression, and symptoms of anxiety by addressing minority stress, facilitating social connection, and promoting engagement with the healthcare system. Yet, little is known about who benefits most from these types of services.MethodsSixty-six US military veterans (Mean age = 47.06, SD = 13.74) provided outcome surveys before and after a 10-week health promotion group for LGBTQ+ individuals at one of 10 Veterans Health Administration (VA) Medical Centers. Coping self-efficacy and key demographic factors were examined as moderators of treatment outcomes.ResultsCoping self-efficacy moderated effects across treatment outcomes with those lower in coping self-efficacy beliefs reporting the greatest benefit of the intervention. Reduction in anxiety symptoms was moderated only by problem-solving coping self-efficacy, while suicide attempt likelihood was moderated only by social support. Reduction of internalized prejudice and depression symptoms were moderated by both problem-solving and social support coping self-efficacy, while thought-stopping (a frequent target of traditional cognitive therapies) only moderated internalized prejudice, but not clinical symptom indicators. Most demographic factors (e.g., age, race, gender) did not impact treatment outcomes; however, sexual orientation was significant such that those who identified as bisexual, queer, or something else (e.g., pansexual) had greater reductions in internalized prejudice than their single gender-attracted peers.ConclusionIndividual differences like coping self-efficacy and sexual orientation are rarely considered in clinical care settings when shaping policy or implementing tailored programs. Understanding implications for who is most likely to improve could inform program refinement and implementation of affirming interventions for minoritized people.
Strong isolation by distance and evidence of population microstructure reflect ongoingPlasmodium falciparumtransmission in Zanzibar
Authors: Connelly Sean V. , Brazeau Nicholas F. , Msellem Mwinyi , Ngasala Billy E. , Aydemir Özkan , Goel Varun , Niaré Karamoko , Giesbrecht David J. , Popkin-Hall Zachary R. , Hennelly Christopher M. , Park Zackary , Moormann Ann M. , Ong’echa John Michael , Verity Robert , Mohammed Safia , Shija Shija J. , Mhamilawa Lwidiko E. , Morris Ulrika , Mårtensson Andreas , Lin Jessica T. , Björkman Anders , Juliano Jonathan J. , Bailey Jeffrey A. 
Published: February 2023

ABSTRACTThe Zanzibar archipelago of Tanzania has become a low-transmission area forPlasmodium falciparum.Despite being considered an area of pre-elimination for years, achieving elimination has been difficult, likely due to a combination of imported infections from mainland Tanzania, and continued local transmission. To shed light on these sources of transmission, we applied highly multiplexed genotyping utilizing molecular inversion probes to characterize the genetic relatedness of 282P. falciparumisolates collected across Zanzibar and in Bagamoyo District on the coastal mainland from 2016-2018. Overall, parasite populations on the coastal mainland and Zanzibar archipelago remain highly related. However, parasite isolates from Zanzibar exhibit population microstructure due to rapid decay of parasite relatedness over very short distances. This, along with highly related pairs withinshehias, suggests ongoing low level local transmission. We also identified highly related parasites acrossshehiasthat reflect human mobility on the main island of Unguja and identified a cluster of highly related parasites, suggestive of an outbreak, in the Micheweni district on Pemba island. Parasites in asymptomatic infections demonstrated higher complexity of infection than those in symptomatic infections, but have similar core genomes. Our data support importation as a main source of genetic diversity and contribution to the parasite population on Zanzibar, but they also show local outbreak clusters where targeted interventions are essential to block local transmission. These results highlight the need for preventive measures against imported malaria and enhanced control measures in areas that remain receptive for malaria reemergence due to susceptible hosts and competent vectors.
DETERMINANTS OF SECOND CHILD BIRTH INTERVAL AMONG WOMEN OF LUSAKA PROVINCE: A COX REGRESSION MODEL
Authors: Zambwe M , Zambwe M , Mutemwa R 
Published: February 2023

AbstractBackgroundChild birth intervalis the length of time between two successful live births.Shorter child birth interval among women of reproductive age is a serious global public health challenge. It is associated with low birth weight, child malnutrition, and child mortality.There is a general dearth of literature on this subject in Zambia. Therefore, the aim of this study was to establish the determinants of second child birth interval among women.MethodsA cross-sectional study involving 100 women of reproductiveage group in Lusaka province. The participants were purposively and convenientlyselected. A pre tested structured questionnaire was used to collect the data. The key variables in the data were age, marital status, educational level, tribe, income. The data from the questionnaires were summarized into a Microsoft excel sheet, and cleaned for errors and duplications.Thereafter the excel sheet was exported to Stata version 14.2 for analysis.Kaplan-Meier and Cox regression analysis wereapplied.ResultsThe p-value for age was 0.00 which was statistically significant. Within the age group 18-25 years the average second birth interval was 23 months. In the age group 26-44 years, the average second birth interval was 42 months. The reported p-value for income was 0.049 which was significant. The results also showed that those with income between K0-K350 had an average second birth interval of child of 27 months. Those with income of K3500-K16000, had an average second birth interval 69 months. Women in urban areas had a longer second birth interval than those in rural areas.ConclusionAge, income and location were found to be significantly associated with the incidence of a second birth. A lot of awareness activities on birth control are therefore recommended among young, low income and rural women.