bluuebunny/crossref_metadata_2025_split huggingface dataset:
Pathogenic relationship between phenotypes of ARPKD and novel compound heterozygous mutations of PKHD1
Authors: Zhang Xinrong , Wu Jiebin , Zhou Jianteng , Liang Jie , Han Yu , Qi Yunmeng , Zhu Tao , Yuan Dejian , Zhu Zuobin , Zhai Jingfang 
Published: July 2024

BackgroundTo investigate whether the novel mutation of PKHD1 could cause polycystic kidney disease by affecting splicing with a recessive inheritance pattern.MethodsA nonconsanguineous Chinese couple with two recurrent pregnancies showed fetal enlarged echogenic polycystic kidney and oligoamnios were recruited. Pedigree WES, minigene splicing assay experiment and following bioinformatics analysis were performed to verify the effects, and inheritance pattern of diseasing-causing mutations.ResultsWES revealed that both fetuses were identified as carrying the same novel mutation c.3592_3628 + 45del, p.? and c.11207 T&gt;C, p.(Ile3736Thr) in the PKHD1 gene (NM_138694.4), which inherited from the father and mother respectively. Both bioinformatic method prediction and minigene splicing assay experience results supported the mutation c.3592_3628 + 45del, p.? affects the splicing of the PKHD1 transcript, resulting in exon 31 skipping. Another missense mutation c.11207 T&gt;C, p.(Ile3736Thr) has a low frequency in populations and is predicted to be deleterious by bioinformatic methods.ConclusionThese findings provide a direct clinical and functional evidence that the truncating mutations of the PKHD1 gene could lead to more severe phenotypes, and cause ARPKD as a homozygous or compound heterozygous pattern. Our study broadens the variant spectrum of the PKHD1 gene and provides a basis for genetic counseling and diagnosis of ARPKD.
Modulation of metabolic and immunoregulatory pathways in the gut transcriptome of Atlantic salmon (Salmo salar L.) after early nutritional programming during first feeding with plant-based diet
Authors: Tawfik Marwa Mamdouh , Betancor Mónica B. , McMillan Stuart , Norambuena Fernando , Tocher Douglas R. , Douglas Alex , Martin Samuel A. M. 
Published: July 2024

IntroductionPlant-based nutritional programming is the concept of exposing fish at very early life stages to a plant-based diet for a short duration to improve physiological responses when exposed to a similar plant-rich diet at a later developmental stage. The mechanisms of action underlying nutritional programming have not been fully deciphered, and the responses may be controlled at multiple levels.MethodsThis 22-week study examines gut transcriptional changes after nutritional programming. Triplicate groups of Atlantic salmon were fed with a plant (V) vs. a marine-rich (M, control) diet for 2 weeks (stimulus phase) at the first exogenous feeding. Both stimulus fish groups (M and V fish) were then fed the M diet for 12 weeks (intermediate phase) and lastly fed the V diet (challenge phase) for 6 weeks, generating two dietary regimes (MMV and VMV) across phases. This study used a whole-transcriptome approach to analyse the effects of the V diet at the end of stimulus (short-term effects) and 22 weeks post-first feeding (long-term effects). After the stimulus, due to its developmental stage, the whole intestine was used, whereas, after the challenge, pyloric caeca and middle and distal intestines were examined.Results and discussionAt the stimulus end, genes with increased expression in V fish enriched pathways including regulatory epigenetic responses and lipid metabolism, and genes involved in innate immune response were downregulated. In the middle intestine at the end of the challenge, expression levels of genes of lipid, carbohydrate, and energy metabolism were increased in V fish, while M fish revealed increased expression of genes associated with autoimmune and acute adaptive immune response. The distal intestine of V fish showed increased expression of genes associated with immune response and potential immune tolerance. Conversely, the distal intestine of M fish at challenge revealed upregulation of lipid and carbohydrate metabolic pathways, tissue degeneration, and apoptotic responses. The present study demonstrated nutritional programming-associated changes in the intestinal transcriptome, with altered expression of genes involved in both immune responses and different metabolic processes. While there were limited changes in growth between the groups, the results show that there were transcriptional differences, suggesting a programming response, although the mechanism of this response still requires to be fully elucidated.
The anterior sylvian point as a reliable landmark for the anterior temporal lobectomy in mesial temporal lobe epilepsy: technical note, case series, and cadaveric dissection
Authors: Fava Arianna , Lisi Serena Vittoria , Mauro Luigi , Morace Roberta , Ciavarro Marco , Gorgoglione Nicola , Petrella Giandomenico , Quarato Pier Paolo , Di Gennaro Giancarlo , di Russo Paolo , Esposito Vincenzo 
Published: July 2024

IntroductionMesial temporal lobe epilepsy (MTLE) is one of the most prevalent forms of focal epilepsy in surgical series, particularly among adults. Over the decades, different surgical strategies have been developed to address drug-resistant epilepsy while safeguarding neurological and cognitive functions. Among these strategies, anterior temporal lobectomy (ATL), involving the removal of the temporal pole and mesial temporal structures, has emerged as a widely employed technique. Numerous modifications have been proposed to mitigate the risks associated with aphasia, cognitive issues, and visual field defects.MethodsOur approach is elucidated through intraoperative and cadaveric dissections, complemented by neuroradiological and cadaveric measurements of key anatomical landmarks. A retrospective analysis of patients with drug-resistant MTLE who were treated using our ATL technique at IRCCS Neuromed (Pozzilli) is presented.ResultsA total of 385 patients were treated with our ATL subpial technique anatomically focused on the anterior Sylvian point (ASyP). The mean FU was 9.9 ± 5.4 years (range 1–24). In total, 84%of patients were free of seizures during the last follow-up, with no permanent neurological deficits. Transient defects were as follows: aphasia in 3% of patients, visual field defects in 2% of patients, hemiparesis in 2% of patients, and cognitive/memory impairments in 0.8% of patients. In cadaveric dissections, the ASyP was found at a mean distance from the temporal pole of 3.4 ± 0.2 cm (range 3–3.8) at the right side and 3.5 ± 0.2 cm (3.2–3.9) at the left side. In neuroimaging, the ASyP resulted anterior to the temporal horn tip in all cases at a mean distance of 3.2 ± 0.3 mm (range 2.7–3.6) at the right side and 3.5 ± 0.4 mm (range 2.8–3.8) at the left side.DiscussionTo the best of our knowledge, this study first introduces the ASyP as a reliable and reproducible cortical landmark to perform the ATL to overcome the patients’ variabilities, the risk of Meyer’s loop injury, and the bias of intraoperative measurements. Our findings demonstrate that ASyP can be a safe cortical landmark that is useful in MTLE surgery because it is constantly present and is anterior to risky temporal regions such as temporal horn and language networks.
Causal association between circulating inflammatory markers and sciatica development: a Mendelian randomization study
Authors: Wu Yang , Lin Yi , Zhang Mengpei , He Ke , Tian Guihua 
Published: July 2024

BackgroundThis research explores the causal association between circulating inflammatory markers and the development of sciatica, a common and debilitating condition. While previous studies have indicated that inflammation may be a factor in sciatica, but a thorough genetic investigation to determine a cause-and-effect relationship has not yet been carried out. Gaining insight into these interactions may uncover novel treatment targets.MethodsWe utilized data from the OpenGWAS database, incorporating a large European cohort of 484,598 individuals, including 4,549 sciatica patients. Our study focused on 91 distinct circulating inflammatory markers. Genetic variations were employed as instrumental variables (IVs) for these markers. The analysis was conducted using inverse variance weighting (IVW) as the primary method, supplemented by weighted median-based estimation. Validation of the findings was conducted by sensitivity studies, utilizing the R software for statistical computations.ResultsThe analysis revealed that 52 out of the 91 inflammatory markers studied showed a significant causal association with the risk of developing sciatica. Key markers like CCL2, monocyte chemotactic protein-4, and protein S100-A12 demonstrated a positive correlation. In addition, there was no heterogeneity or horizontal pleiotropy in these results. Interestingly, a reverse Mendelian randomization analysis also indicated potential causative effects of sciatica on certain inflammatory markers, notably Fms-related tyrosine kinase 3 ligands.DiscussionThe study provides robust evidence linking specific circulating inflammatory markers with the risk of sciatica, highlighting the role of inflammation in its pathogenesis. These findings could inform future research into targeted treatments and enhance our understanding of the biological mechanisms underlying sciatica.
Association between glioma and neurodegenerative diseases risk: a two-sample bi-directional Mendelian randomization analysis
Authors: Liu Yang , Chen Youqi , Gao Ming , Luo Jia , Wang Yanan , Wang Yihan , Gao Yu , Yang Laiyu , Wang Jingning , Wang Ningxin 
Published: July 2024

BackgroundEarlier observational studies have demonstrated a correlation between glioma and the risk of neurodegenerative diseases (NDs), but the causality and direction of their associations remain unclear. The objective of this study was to ascertain the causal link between glioma and NDs using Mendelian randomization (MR) methodology.MethodsGenome-wide association study (GWAS) data were used in a two-sample bi-directional MR analysis. From the largest meta-analysis GWAS, encompassing 18,169 controls and 12,488 cases, summary statistics data on gliomas was extracted. Summarized statistics for NDs, including Alzheimer’s disease (AD), multiple sclerosis (MS), amyotrophic lateral sclerosis (ALS) and Parkinson’s disease (PD) were obtained from the GWAS of European ancestry. Inverse variance weighted (IVW) method was elected as the core MR approach with weighted median (WM) method and MR-Egger method as complementary methods. In addition, sensitivity analyses were performed. A Bonferroni correction was used to correct the results.ResultsGenetically predicted glioma had been related to decreased risk of AD. Specifically, for all glioma (IVW: OR = 0.93, 95% CI = 0.90–0.96, p = 4.88 × 10−6) and glioblastoma (GBM) (IVW: OR = 0.93, 95% CI = 0.91–0.95, p = 5.11 × 10−9). We also found that genetically predicted all glioma has a suggestive causative association with MS (IVW: OR = 0.90, 95% CI = 0.81–1.00, p = 0.045). There was no evidence of causal association between glioma and ALS or PD. According to the results of reverse MR analysis, no discernible causal connection of NDs was found on glioma. Sensitivity analyses validated the robustness of the above associations.ConclusionWe report evidence in support of potential causal associations of different glioma subtypes with AD and MS. More studies are required to uncover the underlying mechanisms of these findings.
Biopsy samples from patients with irritable bowel syndrome, but not from those with mastocytosis or unspecific gastrointestinal complaints reveal unique nerve activation in all gut regions independent of mast cell density, histamine content or specific gastrointestinal symptoms
Authors: Vignali Sheila , Buhner Sabine , Greiter Wolfgang , Daniel Hannelore , Frieling Thomas , Schemann Michael , Annahazi Anita 
Published: July 2024

IntroductionWe previously showed enteric nerve activation after application of colonic mucosal biopsy supernatants from patients with irritable bowel syndrome (IBS). The question remains whether this is a region-specific or a generalized sensitization. We tested the nerve-activating properties of supernatants from large and small intestinal regions of IBS patients with diarrhea (IBS-D) in comparison to those from mastocytosis patients with diarrhea (MC-D) or non-IBS/non-MC patients with GI-complaints. MC-D patients were included to test samples from patients with an established, severe mast cell disorder, because mast cells are suggested to play a role in IBS.MethodsVoltage-sensitive dye imaging was used to record the effects of mucosal biopsy supernatants from IBS-D, MC-D, and non-IBS/non-MC on guinea pig submucous neurons. Mast cell density and histamine concentrations were measured in all samples.ResultsThe median neuroindex (spike frequency × % responding neurons in Hz × %) was significantly (all p &lt; 0.001) increased for IBS-D (duodenum and colon, proximal and distal each, 49.3; 50.5; 63.7; 71.9, respectively) compared to non-IBS/non-MC (duodenum and colon, proximal and distal each, 8.7; 4.9; 6.9; 5.4, respectively) or MC-D supernatants (duodenum and colon, proximal and distal each, 9.4; 11.9; 0.0; 7.9, respectively). Nerve activation by MC-D and non-IBS/non-MC supernatants was comparable (p&gt;0.05). Mast cell density or histamine concentrations were not different between IBS-D, MC-D, and non-IBS/non-MC samples.DiscussionNerve activation by biopsy supernatants is an IBS hallmark that occurs throughout the gut, unrelated to mast cell density or histamine concentration. At least as important is our finding that GI complaints per se were not associated with biopsy supernatant-induced nerve activation, which further stresses the relevance of altered nerve behavior in IBS.
Modification of eating habits and lifestyle during COVID-19 in university students from Mexico and Peru
Authors: Arispe-Alburqueque Claudia Milagros , Díaz del Olmo-Morey Fernando Luis , Arellano Sacramento César , Sánchez-Mendoza Benjamín Dario , López-González Martha Patricia , Yangali-Vicente Judith Soledad , Ipanaqué-Zapata Miguel , Alvarez-Risco Aldo , Del-Aguila-Arcentales Shyla , Yáñez Jaime A. , Alvarado-Santiago Tania Ivette , Morales-Martínez Marx Engels 
Published: July 2024

ObjectiveIt was to evaluate changes in lifestyle habits and health behavior among university students in Peru and Mexico during periods of confinement associated with the COVID-19 pandemic and to identify possible relationships between these changes and sociodemographic variables, health status, and technology consumption.MethodsIt was a quantitative, observational, and cross-sectional study conducted among a population of 739 Mexican students and 305 Peruvian students, most of whom were women (n =778, 74.5%) and non-graduates (n =921, 88.2%). The questionnaire scale for changes in lifestyles during the quarantine period has been previously validated.ResultsThe association between sociodemographic factors and dimensions of change in healthy lifestyles was evaluated, and it was shown that gender and country of residence were significant for all dimensions of healthy lifestyle (p  &lt; 0.05), except for the level of education, which did not show significance about the change in the dimensions of media consumption (p = 0.875) and physical activity (p = 0.239). Within the dimensions mentioned, it can be stated that women are more likely than men to change their eating habits (adjusted prevalences (aPR) = 1.08, p  &lt; 0.001), media consumption (aPR = 1.04, p  &lt; 0.001), and physical activity (aPR = 1.02, p  &lt; 0.001). Meanwhile, participants from Peru are more likely than participants from Mexico to change physical activity (aPR = 1.14, p  &lt; 0.001) and media consumption (aPR = 1.22, p  &lt; 0.001). Finally, graduate students were more likely than undergraduate students to change eating habits (aPR = 1.09, p  = 0.005) and unhealthy habits (aPR = 1.06, p  = 0.030).ConclusionIt was concluded that there were lifestyle changes in Mexican and Peruvian university students in their eating habits, physical activity, internet consumption, and food delivery.
Obesity in childhood: associations with parental neglect, nutritional habits, and obesity awareness
Authors: Onay Tuba , Beyazıt Utku , Uçar Aslı , Bütün Ayhan Aynur 
Published: July 2024

BackgroundThe relationships underlying the dynamic between obesity and parental neglect in terms of nutritional habits and obesity awareness are unclear. Parental neglect remains a significant subject of concern that needs to be examined in the context of obesity.MethodsThe aim was to examine the relationships between childhood obesity, parental neglect, children’s eating habits and obesity. The study group consisted of 404 children and their parents from Ankara, Turkiye. As data collection tools, an Individual Information Form, Obesity Awareness Scale, the Parents Form of the Multidimensional Neglectful Behaviors Scale were administered. In addition, information on the children’s body mass indexes was obtained by anthropometric measurements and the findings were recorded on the questionnaires of each child.ResultsIt was found that 98 (24.3%) of the children included in the study were overweight and 63 (15.6%) were obese. The results of the multinomial logistic regression analysis indicated that in the underweight and overweight group, the parents’ perception of their child’s weight predicted body mass index in children, and in the obese group, along with the parents’ perception of their child’s weight, the age and gender of the child, eating fast, obesity in the family and parental neglect were also predictors.ConclusionPractitioners such as nurses, dietitians and child developmentalists working in schools should consider weight problems in children as one of the indicators of parental neglect and should implement interventive efforts to enhance parental supervision of children at risk.
Predicting immune checkpoint therapy response in three independent metastatic melanoma cohorts
Authors: Szadai Leticia , Bartha Aron , Parada Indira Pla , Lakatos Alexandra I.T. , Pál Dorottya M.P. , Lengyel Anna Sára , de Almeida Natália Pinto , Jánosi Ágnes Judit , Nogueira Fábio , Szeitz Beata , Doma Viktória , Woldmar Nicole , Guedes Jéssica , Ujfaludi Zsuzsanna , Pahi Zoltán Gábor , Pankotai Tibor , Kim Yonghyo , Győrffy Balázs , Baldetorp Bo , Welinder Charlotte , Szasz A. Marcell , Betancourt Lazaro , Gil Jeovanis , Appelqvist Roger , Kwon Ho Jeong , Kárpáti Sarolta , Kuras Magdalena , Murillo Jimmy Rodriguez , Németh István Balázs , Malm Johan , Fenyö David , Pawłowski Krzysztof , Horvatovich Peter , Wieslander Elisabet , Kemény Lajos V. , Domont Gilberto , Marko-Varga György , Sanchez Aniel 
Published: July 2024

IntroductionWhile Immune checkpoint inhibition (ICI) therapy shows significant efficacy in metastatic melanoma, only about 50% respond, lacking reliable predictive methods. We introduce a panel of six proteins aimed at predicting response to ICI therapy.MethodsEvaluating previously reported proteins in two untreated melanoma cohorts, we used a published predictive model (EaSIeR score) to identify potential proteins distinguishing responders and non-responders.ResultsSix proteins initially identified in the ICI cohort correlated with predicted response in the untreated cohort. Additionally, three proteins correlated with patient survival, both at the protein, and at the transcript levels, in an independent immunotherapy treated cohort.DiscussionOur study identifies predictive biomarkers across three melanoma cohorts, suggesting their use in therapeutic decision-making.
A scoping review of the research evidence of the developmental assets model in Europe
Authors: Martin-Barrado Antonio David , Gomez-Baya Diego 
Published: July 2024

IntroductionPositive Youth Development (PYD) is a strength-based perspective that focuses on the resources to promote a successful transition to adulthood, derived from the Relational Developmental Systems theory. In this line, the Developmental Assets (DA) model focuses on describing the personal resources (Internal Assets) and contextual resources (External Assets) that help to reach PYD. Most research from this approach has been carried out in United States and, to a lesser extent, in the European continent. The aim of this scoping review was to examine the evidence collected for the DA model in Europe.MethodsWeb of Science database was used to search for articles published between 2013 and February 2024. Initially, there were 55 possible articles to be included, but after applying the exclusion criteria, this number was reduced to 11.ResultsThe findings suggested that the evidence for DA in Europe was in line with North American research, so that a higher presence of DA was related to higher well-being, better psychological adjustment, and lower risk behaviors. Internal Assets were the most influential assets, with the Positive Identity category being especially remarkable. Commitment to Learning and Social Competencies were also highlighted in the studies included in the review. Concerning External Assets, Positive Boundaries-expectations and Empowerment were emphasized as protective factors in youth development. These assets were found to present a protective effect against risk behaviors and were positively associated with PYD and socioemotional skills.DiscussionThus, these findings support the applicability of the DA framework in promoting PYD in European context, and some intervention strategies are discussed considering cultural diversity.
Perspectives on climate action and the changing burden of infectious diseases among young Italian doctors and students: a national survey
Authors: Segala Francesco Vladimiro , Di Gennaro Francesco , Giannini Lucia A. A. , Stroffolini Giacomo , Colpani Agnese , De Vito Andrea , Di Gregorio Stefano , Frallonardo Luisa , Guido Giacomo , Novara Roberta , Amendolara Angela , Ritacco Ilenia Annunziata , Ferrante Francesca , Masini Lorenzo , Iannetti Ilaria , Mazzeo Salvatore , Marello Silvia , Veronese Nicola , Gobbi Federico , Iatta Roberta , Saracino Annalisa 
Published: July 2024

BackgroundThe eco-climatic crisis has been defined by the World Health Organization as the “single biggest health threat facing humanity,” influencing both the emergence of zoonoses and the spread of vector-borne and water-borne diseases. The aim of this survey was to explore knowledge, eco-anxiety and attitudes toward the ecological and climate crisis among young Italian doctors and medical students.MethodsA cross-sectional, multicenter survey was conducted from November 2022 to June 2023, by administering an anonymous questionnaire to Italian doctors and students of medicine. Endpoint of the study was a Knowledge, Attitudes and Practices (KAP) score on ecological and climate crisis (0–20 points). Association between variables and KAP score was assessed by Kruskal-Wallis’ or Spearman’s test, as appropriate, and significant variables were included into ordinal regression model and reported as adjusted odds ratio (aOR) with their 95% confidence intervals (CI).ResultsBoth KAP and eco-anxiety scores showed acceptable levels of consistency with Cronbach’s alpha. A total of 605 medical doctors and students living in 19 Italian regions were included in the study. Median age [Q1-Q3] was 27.6 [24.1–31.3] and females were 352 (58.2%). Despite showing good attitudes toward climate action, knowledge gap were found, with 42.5% (n = 257) of the respondents not knowing the temperature limits set by the Paris Agreements and 45.5% (n = 275) believing that climate change is caused by sunspots. Fears suggestive for eco-anxiety were common. At multivariable ordinal regression, high levels of eco-anxiety (aOR 1.29, p = 0.001) and low trust in government action (aOR 1.96, p = 0.003) were associated with a higher KAP score. Only one Italian medical school offered an educational module on climate change.ConclusionYoung Italian doctors and medical students are concerned about the climate crisis but show poor knowledge of these topics. The Italian academic system should urgently respond to this need.