bluuebunny/crossref_metadata_2025_split huggingface dataset:
Genetic deletion of nitric oxide synthase 2 ameliorates Parkinson’s disease pathology and neuroinflammation in a transgenic mouse model of synucleinopathy
Authors: Kim Jieun , Han Jung-Youn , Lee Yujeong , Kim Kipom , Choi Young Pyo , Chae Sehyun , Hoe Hyang-Sook 
Published: January 2023

AbstractStudies of mouse models of Alzheimer's disease (AD) have demonstrated that nitric oxide synthase 2 (NOS2) is involved in AD pathology. However, the effects of NOS2 on the pathology of Parkinson’s disease (PD) are not well studied. To address this gap, we examined the impact of NOS2 on disease-associated phenotypes in a mouse model of PD. Transgenic mice carrying the A53T mutation of α-synuclein (SynA53T) and newly generated double transgenic mice with deletion of NOS2 (SynA53T/NOS2−/−) were used. Compared with SynA53T mice, the loss of nos2 decreased α-synuclein phosphorylation at serine 129 and reduced α-synuclein-induced microglial and astrocyte activation in SynA53T/NOS−/− mice. Additionally, neuroinflammation-related gene clusters in the deep mesencephalic nucleus (DpMe) were altered in SynA53T/NOS−/− mice compared with SynA53T mice. Taken together, our results suggest that deletion of nos2 alleviates α-synuclein pathology and α-synuclein-associated neuroinflammatory responses in the brain.
Pros and cons of an aggressive initial treatment with surgery and radioiodine treatment in minimally invasive follicular thyroid carcinoma
Authors: Minaldi Elisa , Giani Carlotta , Agate Laura , Molinaro Eleonora , Elisei Rossella 
Published: January 2023

Abstract
Background
Currently, surgery alone is the gold standard treatment for minimally invasive follicular thyroid cancer (mi-FTC).

Case presentation
A case of a mi-FTC diagnosed in 1994 was treated with total thyroidectomy and radioiodine (RAI) ablation, according to the therapeutic algorithm used at that time. Nevertheless, he had a recurrence with distant metastasis after 24 years from the initial treatment.

Conclusion
Total thyroidectomy and RAI ablation might have delayed the development of distant metastasis but they were not sufficient to avoid disease recurrence. Certainly, remnant ablation simplified the follow-up and the monitoring of serum thyroglobulin allowed the early detection of the biochemical recurrence, but didn’t change the outcome of the disease. Moreover, because of this early detection the patient was exposed to useless biochemical and imaging examinations. The aim of this report is to discuss the pros and cons of an aggressive treatment of a patient with mi-FTC.
Ovarian absence: a systematic literature review and case series report
Authors: Chen H. Alexander , Grimshaw Alyssa A. , Taylor-Giorlando Melissa , Vijayakumar Pavithra , Li Dan , Margetts Miranda , Pelosi Emanuele , Vash-Margita Alla 
Published: January 2023

AbstractOvarian absence is an uncommon condition that most frequently presents unilaterally. Several etiologies for the condition have been proposed, including torsion, vascular accident, and embryological defect. A systematic review was conducted to describe the clinical presentation of ovarian absence, as well as its associations with other congenital anomalies,through a systematic search of Cochrane Library, ClinicalTrials.gov, Google Scholar, Ovid Embase, Ovid Medline, PubMed, Scopus, and Web of Science. Exclusion criteria included cases with suspicion for Differences of Sex Development, lack of surgically-confirmed ovarian absence, and karyotypes other than 46XX. Our search yielded 12,120 citations, of which 79 studies were included. 10 additional studies were found by citation chasing resulting in a total 113 cases including two unpublished cases presented in this review. Abdominal/pelvic pain (30%) and infertility/subfertility (19%) were the most frequent presentations. Ovarian abnormalities were not noted in 28% of cases with pre-operative ovarian imaging results. Approximately 17% of cases had concomitant uterine abnormalities, while 22% had renal abnormalities. Renal abnormalities were more likely in patients with uterine abnormalities (p < 0.005). Torsion or vascular etiology was the most frequently suspected etiology of ovarian absence (52%), followed by indeterminate (27%) and embryologic etiology (21%). Most cases of ovarian absence are likely attributable to torsion or vascular accidents, despite many references to the condition as “agenesis” in the literature. Imaging may fail to correctly diagnose ovarian absence, and diagnostic laparoscopy may be preferable in many cases as genitourinary anatomy and fertility considerations can be assessed during the procedure. Fertility is likely minimally or not affected in women with unilateral ovarian absence.
Evaluation of diagnostic time in pediatric patients with eosinophilic gastrointestinal disorders according to their clinical features
Authors: Votto Martina , Lenti Marco Vincenzo , De Silvestri Annalisa , Bertaina Francesca , Bertozzi Mirko , Caimmi Silvia , Cereda Emanuele , De Filippo Maria , Di Sabatino Antonio , Klersy Catherine , Raffaele Alessandro , Riccipetitoni Giovanna , Marseglia Gian Luigi , Licari Amelia , Brambilla Ilaria 
Published: January 2023

AbstractEosinophilic gastrointestinal disorders (EGIDs) are chronic/remittent inflammatory diseases associated with a substantial diagnostic delay, often attributable to misdiagnosis and variable clinical presentation in adults. In the pediatric population, few studies have been conducted worldwide reporting EGID diagnostic delay and its consequences on patients. This study aims to analyze and identify potential clinical factors and complications associated with a longer diagnostic time. We performed a retrospective analysis of pediatric patients with EGIDs followed at the Center for Pediatric EGIDs in Pavia, Italy. A total of 60 patients with EGIDs were enrolled. Thirty-nine (65%) patients had EoE, and 21 (35%) non-esophageal EGIDs. EGID diagnosis was achieved about 2 years after the symptom onset, and the median diagnostic time was 12 months (IQR 12–24 months). Diagnostic time was 12 months (IQR 12–69) in non-esophageal EGIDs and 12 months (IQR 4–24 months) in EoE patients. EoE patients presenting with FTT and feeding issues experienced a longer diagnostic time (p = 0.02 and p = 0.05, respectively) than children without growth and feeding impairments.In this study, symptoms appeared about 2 years before the definitive EGID diagnosis was reached, and this diagnostic time was shorter than the delay observed in other published studies. Especially in EoE children, the diagnostic time is significantly associated with impaired child growth, highlighting the importance of an early diagnosis to prevent esophageal stenosis and failure to thrive.
Development of the gut microbiota during early life in premature and term infants
Authors: Sim Kathleen , Powell Elizabeth , Cornwell Emma , Simon Kroll J. , Shaw Alexander G. 
Published: January 2023

Abstract
Background
The gastrointestinal (GI) microbiota has been linked to health consequences throughout life, from early life illnesses (e.g. sepsis and necrotising enterocolitis) to lifelong chronic conditions such as obesity and inflammatory bowel disease. It has also been observed that events in early life can lead to shifts in the microbiota, with some of these changes having been documented to persist into adulthood. A particularly extreme example of a divergent early GI microbiota occurs in premature neonates, who display a very different GI community to term infants. Certain characteristic patterns have been associated with negative health outcomes during the neonatal period, and these patterns may prove to have continual damaging effects if not resolved.

Results
In this study we compared a set of premature infants with a paired set of term infants (n = 37 pairs) at 6 weeks of age and at 2 years of age. In the samples taken at 6 weeks of age we found microbial communities differing in both diversity and specific bacterial groups between the two infant cohorts. We identified clinical factors associated with over-abundance of potentially pathogenic organisms (e.g. Enterobacteriaceae) and reduced abundances of some beneficial organisms (e.g. Bifidobacterium). We contrasted these findings with samples taken at 2 years of age, which indicated that despite a very different initial gut microbiota, the two infant groups converged to a similar, more adult-like state. We identified clinical factors, including both prematurity and delivery method, which remain associated with components of the gut microbiota. Both clinical factors and microbial characteristics are compared to the occurrence of childhood wheeze and eczema, revealing associations between components of the GI microbiota and the development of these allergic conditions.

Conclusions
The faecal microbiota differs greatly between infants born at term and those born prematurely during early life, yet it converges over time. Despite this, early clinical factors remain significantly associated with the abundance of some bacterial groups at 2 years of age. Given the associations made between health conditions and the microbiota, factors that alter the makeup of the gut microbiota, and potentially its trajectory through life, could have important lifelong consequences.
Multimodality imaging of neurodegenerative disorders with a focus on multiparametric magnetic resonance and molecular imaging
Authors: Loftus James Ryan , Puri Savita , Meyers Steven P. 
Published: January 2023

AbstractNeurodegenerative diseases afflict a large number of persons worldwide, with the prevalence and incidence of dementia rapidly increasing. Despite their prevalence, clinical diagnosis of dementia syndromes remains imperfect with limited specificity. Conventional structural-based imaging techniques also lack the accuracy necessary for confident diagnosis. Multiparametric magnetic resonance imaging and molecular imaging provide the promise of improving specificity and sensitivity in the diagnosis of neurodegenerative disease as well as therapeutic monitoring of monoclonal antibody therapy. This educational review will briefly focus on the epidemiology, clinical presentation, and pathologic findings of common and uncommon neurodegenerative diseases. Imaging features of each disease spanning from conventional magnetic resonance sequences to advanced multiparametric methods such as resting-state functional magnetic resonance imaging and arterial spin labeling imaging will be described in detail. Additionally, the review will explore the findings of each diagnosis on molecular imaging including single-photon emission computed tomography and positron emission tomography with a variety of clinically used and experimental radiotracers. The literature and clinical cases provided demonstrate the power of advanced magnetic resonance imaging and molecular techniques in the diagnosis of neurodegenerative diseases and areas of future and ongoing research. With the advent of combined positron emission tomography/magnetic resonance imaging scanners, hybrid protocols utilizing both techniques are an attractive option for improving the evaluation of neurodegenerative diseases.
Global prevalence of Rett syndrome: systematic review and meta-analysis
Authors: Petriti Uarda , Dudman Daniel C. , Scosyrev Emil , Lopez-Leon Sandra 
Published: January 2023

Abstract

Background
Rett syndrome is a rare, severe neurodevelopmental disorder. Almost all cases occur in girls, in association with spontaneous (non-inherited) mutations involving the methyl-CpG-binding protein 2 gene located on the X chromosome. Diagnostic criteria for typical Rett syndrome require a period of regression, followed by recovery or stabilization, and fulfillment of all four main criteria (loss of purposeful hand skills, loss of spoken language, gait abnormalities, and stereotypic hand movements). Our objective was to estimate the prevalence of Rett syndrome in the general population, stratified by sex.

Methods
We conducted a search of PubMed, Embase, Web of Science, Cochrane Library, LILACS, and LIVIVO to retrieve studies published in English between Jan. 1, 2000, and June 30, 2021. Pooled prevalence with a 95% confidence interval (CI) was estimated using a random-effects meta-analysis based on a generalized linear mixed model with a logit link.

Results
Ten eligible studies were identified (all in females), with a combined sample size of 9.57 million women and 673 Rett syndrome cases. The pooled prevalence estimate (random effects) was 7.1 per 100,000 females (95% CI: 4.8, 10.5, heterogeneity p < 0.001). Despite greatly variable precision of estimation, all estimates were compatible with a prevalence range of approximately 5 to 10 cases per 100,000 females based on their respective 95% CIs.

Conclusion
These findings may facilitate planning of therapeutic trials in this indication in terms of target sample size and accrual times.
Time-related meal patterns and breakfast quality in a sample of Iranian adults
Authors: Lesani Azadeh , Barkhidarian Bahareh , Jafarzadeh Mehrzad , Akbarzade Zahra , Djafarian Kurosh , Shab-Bidar Sakineh 
Published: January 2023

AbstractBackgroundSome evidence shows that meal timing is associated with diet quality. We aimed to investigate the relationship between meal timing and breakfast quality in a sample of Iranian adults.MethodsThis cross-sectional study was conducted on 850 men and women living in Tehran, Iran. Dietary data was recorded by three non-consecutive 24-h dietary recalls. The Breakfast Quality Index (BQI) was calculated. Time-related meal patterns included the interval between the first and last meal (eating and fasting window), frequency of meals, length of sleep, and time of first and last eating occasion. The multiple linear regression analysis was used to identify the relationships between time-related meal patterns and BQI.ResultsThe mean (95% CI) of BQI was 4.52 (4.45–4.65) and the maximum was 8. Bread, cheese, vegetables, fruits, energy, and carbohydrate intake showed positive associations with BQI scores. Longer fasting time showed a positive association with fruits (β (CI 95%)) (0.11 (0.0003–0.005), and vegetable consumption (0.12 (0.009–0.07)) and BQI score (0.39 (0.001–0.06)). Time of first eating occasions indicated a negative association with protein and fat intake and BQI score. Time of last eating occasions showed a positive association with vegetables consumption and BQI score. The longer length of sleep was associated with a higher BQI score. The frequency of meals was significantly and positively related to energy and macronutrients intake and BQI.ConclusionEarlier first and last meal, longer sleep length, longer fasting window, and a greater meal frequency were associated with a better breakfast quality.
Fluctuations in the wind energy supply do not impair acceptance of wind farms
Authors: Katsarava Mariam , Gaschler Robert 
Published: January 2023

AbstractWith the growing contribution of wind power to the electric energy supply, fluctuation in available wind energy might increasingly become part of public debate. Fluctuation influences energy prices and might lead to acceptance problems. As a first step to gauge potential communication strategies, we investigated in an experimental study if acceptance is influenced by being made aware of fluctuation. Participants either answered questions on acceptance before or after judging fluctuation and predictability for 30 days of wind energy input. To test for potentially biased cognition, we additionally checked if judgments were affected by whether or not it was transparent that the graphs showed wind energy input. Mean acceptance did not differ between the groups. Directing attention to the fluctuation of power generated by wind does not have an impact on acceptance. Additionally, presence or absence of labels on the graphs and thus knowing that the graphs depicted wind energy supply, did not affect fluctuation and predictability ratings.
Liberating an EFL teacher as an activist teacher professional identity in MA TESOL classrooms
Authors: Alzhrani Nesreen 
Published: January 2023

AbstractThis study introduces a new model of practitioner research to develop an activist teacher professional identity for student-teachers and to enhance their understanding of the theory and practice of continuous professional development (CPD). The participants were ten female student-teachers enrolled in an MA program for Teaching English to Speakers of Other Languages (TESOL) at a university in Saudi Arabia. In this intervention, student-teachers constructed their version of CPD. Then they subsequently reflected on their definition of CPD and the factors contributing to its success. Qualitative research methods were used to collect data, including document analysis and individual structured interviews. The study sought to discover how the enquiry intervention improved student-teachers’ grasp of CPD theory and practice and contributed to the construction of their activist teacher professional identity. The findings may encourage the development and implementation of new forms of practitioner enquiry in MA programs to support the construction of different notions of professional identity found in the literature.
Psychosocial impact of COVID-19 2 years after outbreak on mental health of medical workers in Iran
Authors: Kolivand Pirhossein , Hosseindoost Saereh , Kolivand Zahra , Gharaylou Zeinab 
Published: January 2023

Abstract
Background
The COVID-19 pandemic had a substantial influence on the mental health of healthcare workers. This study investigated general health status, the prevalence, and the severity of depressive spectrum and anxiety-related disorders. It evaluated the association between various factors and depression, anxiety, and stress among healthcare workers in the Khatam-Alanbia Hospital in Iran, after 2 years since the corona virus disease 2019 (COVID-19) pandemic.

Results
In this online cross-sectional study, 409 participants were selected and given a questionnaire about demographic, personal, and clinical characteristics as well as stressors related to COVID-19. The participants completed the General Health Questionnaire (GHQ-28) and the 42-item Depression, Anxiety, and Stress Scale (DASS-42) to report depression, anxiety, and stress/tension levels. We found that the overall incidence of depression, anxiety and stress among health care workers during the COVID-19 pandemic was 44.25%, 50.62%, and 43.76%, respectively. Participants with severe to very severe depression, anxiety and stress accounted for 19.2%, 26.6%, and 18.2% of the sample, respectively. Being female was associated with higher odds of depression, anxiety, and stress.

Conclusions
Two years after the COVID-19 outbreak, health workers are still showing a significant level of depression, anxiety, stress, and remarkable signs of psychological distress. The situation of a health care worker is worrying. The long-term psychological implications of infectious diseases should not be ignored. Mental health services could play an essential role in rehabilitation.
Somatic comorbidities of mental disorders in pregnancy
Authors: Khachadourian Vahe , Kodesh Arad , Levine Stephen Z. , Lin Emma , Buxbaum Joseph D. , Bergink Veerle , Sandin Sven , Reichenberg Abraham , Janecka Magdalena 
Published: January 2023

AbstractBackgroundMental and physical health conditions are frequently comorbid. Despite the widespread physiological and behavioral changes during pregnancy, the pattern of comorbidities among women in pregnancy is not well studied. This study aimed to systematically examine the associations between mental and somatic disorders before and during pregnancy.MethodThe study used data from mothers of a nationally representative birth cohort of children born in Israel (1997–2008). We compared the risk of all major somatic disorders (International Classification of Diseases, Ninth Revision) in pregnant women with and without a mental disorder. All analyses were adjusted for maternal age, child’s birth year, family socioeconomic status, and the total number of maternal encounters with health services around pregnancy period.ResultsThe analytical sample included 77,030 mother–child dyads, with 30,083 unique mothers. The mean age at child’s birth was 29.8 years. Prevalence of diagnosis of mental disorder around pregnancy in our sample was 4.4%. Comorbidity between mental and somatic disorders was two times higher than the comorbidity between pairs of different somatic disorders. Of the 17 somatic disorder categories, seven were positively associated with mental health disorders. The highly prevalent comorbidities associated with mental disorders in pregnancy included e.g. musculoskeletal (OR = 1.30; 95% CI = 1.20–1.42) and digestive system diseases (OR = 1.23; 95% CI = 1.13–1.34).ConclusionsWe observed that associations between maternal diagnoses and mental health stand out from the general pattern of comorbidity between nonmental health diseases. The study results confirm the need for screening for mental disorders during pregnancy and for potential comorbid conditions associated with mental disorders.
Patient-specific variants of NFU1/NFU-1 disrupt cholinergic signaling in a model of multiple mitochondrial dysfunctions syndrome 1
Authors: Kropp Peter A. , Rogers Philippa , Kelly Sydney E. , McWhirter Rebecca , Goff Willow D. , Levitan Ian M. , Miller David M. , Golden Andy 
Published: January 2023

ABSTRACT
Neuromuscular dysfunction is a common feature of mitochondrial diseases and frequently presents as ataxia, spasticity and/or dystonia, all of which can severely impact individuals with mitochondrial diseases. Dystonia is one of the most common symptoms of multiple mitochondrial dysfunctions syndrome 1 (MMDS1), a disease associated with mutations in the causative gene (NFU1) that impair iron–sulfur cluster biogenesis. We have generated Caenorhabditis elegans strains that recreated patient-specific point variants in the C. elegans ortholog (nfu-1) that result in allele-specific dysfunction. Each of these mutants, Gly147Arg and Gly166Cys, have altered acetylcholine signaling at neuromuscular junctions, but opposite effects on activity and motility. We found that the Gly147Arg variant was hypersensitive to acetylcholine and that knockdown of acetylcholine release rescued nearly all neuromuscular phenotypes of this variant. In contrast, we found that the Gly166Cys variant caused predominantly postsynaptic acetylcholine hypersensitivity due to an unclear mechanism. These results are important for understanding the neuromuscular conditions of MMDS1 patients and potential avenues for therapeutic intervention.
Loss of Shp1 impairs myeloid cell function and causes lethal inflammation in zebrafish larvae
Authors: Allers Maaike , Bakker Petra A. , Hoeksma Jelmer , Spaink Herman P. , den Hertog Jeroen 
Published: January 2023

ABSTRACT
PTPN6 encodes SHP1, a protein tyrosine phosphatase with an essential role in immune cell function. SHP1 mutations are associated with neutrophilic dermatoses and emphysema in humans, which resembles the phenotype seen in motheaten mice that lack functional SHP1. To investigate the function of Shp1 in developing zebrafish embryos, we generated a ptpn6 knockout zebrafish line lacking functional Shp1. Shp1 knockout caused severe inflammation and lethality around 17 days post fertilization (dpf). During early development, the myeloid lineage was affected, resulting in a decrease in the number of neutrophils and a concomitant increase in the number of macrophages. The number of emerging hematopoietic stem and progenitor cells (HSPCs) was decreased, but due to hyperproliferation, the number of HSPCs was higher in ptpn6 mutants than in siblings at 5 dpf. Finally, the directional migration of neutrophils and macrophages was decreased in response to wounding, and fewer macrophages were recruited to the wound site. Yet, regeneration of the caudal fin fold was normal. We conclude that loss of Shp1 impaired neutrophil and macrophage function, and caused severe inflammation and lethality at the larval stage.