bluuebunny/crossref_metadata_2025_split huggingface dataset:
Polymorphism of the <i>MAOA</i> Gene (rs1137070) and Internet Addiction in Adolescents
Authors: Kopylova K. V. , Marchenko I. V. , Shubina M. V. , Gorbacheva N. N. , Novitckii I. A. , Smolnikova M. V. 
Published: April 2024

Monoamine oxidase A (MAOA) catalyzes the degradation of norepinephrine, dopamine, and serotonin, i.e. neurotransmitters involved in the pathogenesis of pathological addictions, including internet addiction (IA). Gene MAOA has been actively studied in terms of genetic predisposition to the development of aggressive behavior potentially involved in the formation of IA. The study included 602 adolescents (9–18 years old, mean age = 14.6, SD 1.7) from the Angara-Yenisei macroregion (Russians n = 329, Tuvans n = 158, Khakasses n = 158). The type of IA was assessed according to the Chen scale (Chen Internet Addiction Scale, CIAS), gene polymorphism was detected using real-time PCR. The distribution of the TT genotype of MAOA rs1137070 polymorphism associated with low activity of the monoamine oxidase A enzyme and aggressive behavior affected by IA, was found to be significantly higher in Tuvan adolescents compared with Russians (31.1/21.2% p = = 0.02). Pathological internet addiction (more than 65 points by Chen scale) often observed among Khakass adolescents compared to Russian (26.4/15.5%, p = 0.03). Thus, the allelic variant T of MAOA rs1137070 polymorphism appears to be potential marker for dependent and aggressive behavior to form, Asian representatives being more susceptible to the development of pathological addictions than Caucasian populations.
Study of the Association of Polymorphic Variants rs2295080 and rs1883965 of the <i>MTOR</i> Gene with the Development of Pulmonary Sarcoidosis
Authors: Malysheva I. E. , Topchieva L. V. , Tikhonovich E. L. 
Published: April 2024

The aim of the study was to study the association of polymorphic variants rs2295080 and rs1883965 of the MTOR gene with the risk of developing pulmonary sarcoidosis. The study included 253 people (122 patients diagnosed with morphologically verified sarcoidosis with lung involvement (average age – 41.00 ± 12.56 years) and 131 healthy people (control group) (average age – 44.00 ± 14.23). The distribution of alleles and genotypes of polymorphic markers rs2295080 and rs1883965 of the MTOR gene was analyzed in the study groups. There was a statistically significant increase in the level of mRNA expression of the MTOR gene in PBL of patients with pulmonary sarcoidosis compared with the control group (p = 0.007). A decrease in the number of transcripts of this gene was noted in patients receiving therapy compared with patients without therapy (p = = 0.025). There were no statistically significant differences in the distribution of allele and genotype frequencies for polymorphic markers rs2295080 and rs1883965 of the MTOR gene in the group of patients with pulmonary sarcoidosis and in the control group: (χ2 = 0.196, d.f. = 1, p = 0.658 and χ2 = 0.637, d.f. = 2, p = = 0.728) and (χ2 = 0.034, d.f. = 1, p = 0.855 and χ2 = 0.051, d.f. = 2, p = 0.975) respectively. Conclusion: аn increased level of expression of the MTOR gene in peripheral blood leukocytes of patients with pulmonary sarcoidosis may indicate the involvement of this gene in the pathogenesis of this disease. Polymorphic markers rs2295080 and rs1883965 of the MTOR gene are not associated with the risk of developing pulmonary sarcoidosis. Probably, an increase in the expression level of the MTOR gene in patients with pulmonary sarcoidosis is due to the development of inflammation.
Search for Candidate Genes for Live Weight in Southern Meat Breed Sheep
Authors: Shevtsova V. S. , Kulikova A. Ya. , Getmantseva L. V. , Usatov A. V. 
Published: April 2024

The paper presents the results of candidate genes search for live weight is southern meat sheep breed. The sample of 48 ewes weighed in the age of 24 months and elder was genotyped on Ovine SNP 50 Genotyping BeadChip array. Using a fixation in dices method (Fst), wedetected 55 polymorphisms associated with live weight. 10 SNP swith the highest Fst value were selected to check the effect on the trait under investigation. All the candidate genes showed the association witht helive weight trait. It’s interesting to not ethatin the NDFIP1 gene there were detected two significant SNPs with a high Fst value.
The Nature of the Puchezh-Katunki Impact Structure (the Central Part of the East European Platform): Results of the U‒Th‒Pb Isotope System Study of Detrital Zircons from Explosive Breccias
Authors: Shalaeva E. A. , Novikova A. S. , Dubenskiy A. S. , Erofeeva K. G. , Sheshukov V. S. , Kolodyazhny S. Yu. , Kuznetsov N. B. , Romanyuk T. V. , Strashko A. V. 
Published: April 2024

The Puchezh-Katunki crater is located in the central part of the East European Platform in the area of the Gorky Reservoir, has a diameter of ~80 km and is morphologically expressed by the central uplift of the basement (Vorotilov knoll) and the ring depression surrounding it, on the periphery of which there is a ring terrace. The crater is filled with various coptogenic (explosive (?)) formations – breccias of various types, bodies of suvites and tagamites. The results of studying the U‒Th‒Pb isotopic system of detrital zircon grains from variegated explosive Puchezh breccias in the northwestern part of the ring terrace (three samples) are presented. The weighted average of the three youngest U‒Pb datings of detrital zircon from all studied samples is 258 ± 7 Ma, which corresponds to the Late Permian. We took this dating as the lower age limit of the Puchezh breccias. A comparison of the age sets of detrital zircon grains from the samples studied by us and from (i) crystalline rocks of the Vorotilov knoll and ring depression suvites and (ii) Upper Permian–Lower Triassic sandstones of the Zhukov ravine reference section (Moscow syneclise) was carried out. The absence among the detrital zircon from the Puchezh breccia grains, whose U‒Th‒Pb isotopic system is comparable with the parameters of zircon from the rocks of the Vorotilov knoll and suvites, indicates the local nature of the Puchezh-Katunki explosion, in which the impact-thermal impact did not affect the detrital zircons in rocks of the marginal part of the annular terrace of the crater. The high similarity of the sets of ages of detrital zircon grains from the lens of redeposited sandstones of the Puchezh breccias and Upper Permian rocks of the Zhukov ravine section indicates that the Puchezh breccias were formed mainly due to the recycling of the Upper Permian–Lower Triassic sequences underlying the explosive formations. We consider the Uralides paleoorogen as the main source for the deposits of the central regions of the East European Platform in the stratigraphic interval close to the Permian–Triassic boundary. The deposits were formed as a result of a high degree of mixing and averaging of clastic material of sedimentary flows containing the Uralian and Asha provenance signals.
Identifying New Subtypes of Multiple System Atrophy Using Cluster Analysis
Authors: Li Xiaobing , Bai Jing , Guo Xin , Mu Yaqian , Di Zhengli , Zhang Gejuan , Wang Bo , Zhang Yun , Liu Xinyao , Shi Yan , Lin Shinuan , Wu Linyu , Bai Ya , Liu Xuedong 
Published: April 2024

Background: Multiple system atrophy (MSA) is a disease with diverse symptoms and the commonly used classifications, MSA-P and MSA-C, do not cover all the different symptoms seen in MSA patients. Additionally, these classifications do not provide information about how the disease progresses over time or the expected outcome for patients. Objective: To explore clinical subtypes of MSA with a natural disease course through a data-driven approach to assist in the diagnosis and treatment of MSA. Methods: We followed 122 cases of MSA collected from 3 hospitals for 3 years. Demographic characteristics, age of onset, clinical signs, scale assessment scores, and auxiliary examination were collected. Age at onset; time from onset to assisted ambulation; and UMSARS I, II, and IV, COMPASS-31, ICARS, and UPDRS III scores were selected as clustering elements. K-means, partitioning around medoids, and self-organizing maps were used to analyze the clusters. Results: The results of all three clustering methods supported the classification of three MSA subtypes: The aggressive progression subtype (MSA-AP), characterized by mid-to-late onset, rapid progression and severe clinical symptoms; the typical subtype (MSA-T), characterized by mid-to-late onset, moderate progression and moderate severity of clinical symptoms; and the early-onset slow progression subtype (MSA-ESP), characterized by early-to-mid onset, slow progression and mild clinical symptoms. Conclusions: We divided MSA into three subtypes and summarized the characteristics of each subtype. According to the clustering results, MSA patients were divided into three completely different types according to the severity of symptoms, the speed of disease progression, and the age of onset.
Parkinson’s Disease Risk Variant rs9638616 is Non-Specifically Associated with Altered Brain Structure and Function
Authors: Welton Thomas , Teo Thomas Wei Jun , Chan Ling Ling , Tan Eng-King , Tan Louis Chew Seng 
Published: April 2024

Background: A genome-wide association study (GWAS) variant associated with Parkinson’s disease (PD) risk in Asians, rs9638616, was recently reported, and maps to WBSCR17/GALNT17, which is involved in synaptic transmission and neurite development. Objective: To test the association of the rs9638616 T allele with imaging-derived measures of brain microstructure and function. Methods: We analyzed 3-Tesla MRI and genotyping data from 116 early PD patients (aged 66.8±9.0 years; 39% female; disease duration 1.25±0.71 years) and 57 controls (aged 68.7±7.4 years; 54% female), of Chinese ethnicity. We performed voxelwise analyses for imaging-genetic association of rs9638616 T allele with white matter tract fractional anisotropy (FA), grey matter volume and resting-state network functional connectivity. Results: The rs9638616 T allele was associated with widespread lower white matter FA (t = –1.75, p = 0.042) and lower functional connectivity of the supplementary motor area (SMA) (t = –5.05, p = 0.001), in both PD and control groups. Interaction analysis comparing the association of rs9638616 and FA between PD and controls was non-significant. These imaging-derived phenotypes mediated the association of rs9638616 to digit span (indirect effect: β= –0.21 [–0.42,–0.05], p = 0.031) and motor severity (indirect effect: β= 0.15 [0.04,0.26], p = 0.045). Conclusions: We have shown that a novel GWAS variant which is biologically linked to synaptic transmission is associated with white matter tract and functional connectivity dysfunction in the SMA, supported by changes in clinical motor scores. This provides pathophysiologic clues linking rs9638616 to PD risk and might contribute to future risk stratification models.
H Hepatoprotective Activity of Piper crocatum (Ruiz &Pav.) Leaves Against Monosodium Glutamate -Induced Hepatotoxicity in Rats
Authors: Rahayu Sri Endarti , Kharisma Bayu , Suprihatin Suprihatin 
Published: April 2024

Monosodium glutamate (MSG) is widely used as additive in food. Excess consumption of MSG was reported to cause oxidative stress on liver resulted increased production of reactive oxygen species (ROS). Without proper treatment, it can induce liver injury and fatal hepatic diseases, including cirrhosis. Red betel (Piper crocatum Ruis and Pav.) is one of Indonesia’s medicinal plants that has been known to exhibit antioxidant activity. The current study evaluated hepatoprotective effect of red betel leaves extract (RBLE) towards liver injury. Animals (n=5 per group) were randomly divided into five groups as follows: Group 1, control (distilled water); group 2, negative control, receive 7 mg/kg bw of MSG; group 3, receive oral 7g/kg b.w of MSG plus 200 mg/kg bw RBLE; group 4, receive oral 7g/kg b.w of MSG plus 400 mg/kg b.w RBLE and group 5, receive oral 7g/kg b.w of MSG plus 600 mg/kg b.w RBLE. The rats were sacrificed on twenty-ninth day of the experiment. Measuring serum levels of aspartate aminotransferase (AST) and alanin aminotransferase (ALT) was done. Histopathological examination of liver was performed by calculated necrosis cell percentage. RBLE treatment (200 mg/kg b.w) decrease alanin aminotransferase and aspartate aminotransferase demonstrated increased compare to negative control. The histological findings revealed RBLE treatment were also able to decrease necrosis cells percentage. The study was able to demonstrate that RBLE treatment could decrease necrotic cell percentage. Low concentration of RBLE (200 mg/kg b.w) exhibit best anti-inflammatory properties and had the lowest ALT enzyme and increased live cell percentage by shifting cell death pathway from necrosis to apoptosis, and these indicating its antioxidant properties. These results could be used as a baseline in the purification of red betel bioactive components to be used for liver injury medication.
Key words: Antioxidant, hepatoprotective, histopathology, liver enzymes, MSG, red betel.
co-production of an intervention facilitating informal caregivers to support adults at risk of suicide and serious self-harm: a brief report
Authors: Frances Deborah 
Published: April 2024

The recovery model in mental healthcare increasingly recognises suicidal behaviour as an interpersonal issue, with caregivers seen as essential in prevention. In the UK, as in other parts of the world, there is growing consensus in policies, guidelines and academic research towards carer involvement in a person’s mental healthcare, yet inconsistency in practice remain commonplace.
In response to the theme of poor family involvement consistently identified in reports into deaths by suicide in Devon (UK), Devon Partnership NHS Trust has developed Stronger Together, a training programme for carers of suicidal adults. The programme, co-produced with carers and service users, also includes a collaborative learning component with healthcare staff.
This report explores the programme's co-production and my personal involvement. Co-production shaped Stronger Together, aligning it with national policy and research findings. Its co-delivery and co-learning approach uniquely addresses carers' needs and fosters staff-carer collaboration. Learning from this initiative could help other mental health trusts foster a culture of carer collaboration, potentially improving patient safety, reducing caregiver burden and enhancing support for patients and families to reduce deaths by suicide. It also strengthens the case for co-production of training that effectively meets the needs of participants and delivers on its outcomes.
"My Mother Makes Films to Cope with Her Demons": Confronting Normality
Authors: Sukhdev Shabnam 
Published: April 2024

My daughter’s mental health condition had raised several questions about her diagnosis and recovery, and I wanted to make a film about it. I had a rich family archive which I choose to call a ‘record’ of all that was going on around me. In addition, I was carrying my own lived experience and several years of struggle with my daughter’s condition: her hospitalizations and encounters with her doctors and therapists. I was filming her because I didn’t know how else to cope with my situation. I couldn’t watch the 2007 footage that I had shot during her episode until ten years after. I began questioning the ethical reasons for documenting my daughter in that state; I also wanted to investigate the circumstances that led to her diagnosis. Would she have ever been diagnosed if we had continued to live in India? Could the triggers be related to her being the product of a broken home? How can family history of mental illness be controlled? Can the impact of illness be reversed? Is mental illness a reality or is it a construct of society? What is Normal? How can my daughter claim agency in charting strategies for her own wellness? How can she participate effectively in mainstream communities overcoming the stigma and labels? Can art truly be instrumental in coping with mental illness and facilitate the healing process? I could address some of the questions in the film, while others continue to be a driving force in our commitment to advocacy work through film screenings and panels.[1] This has not only proven to be a very empowering experience for both my daughter and myself, but also strengthened our relationship beyond the filial bond – giving us a strong purpose outside of our immediate circle of concern.

[1] You will find on-line links to several panels since the film’s release in 2021.
Variations of Index (2D) Finger Length among Adult Bangladeshies
Authors: Hasan Karim Rezwan , Ara Shamim , Begum Mahamuda 
Published: April 2024

Context: In human hand, the lengths of all digits are not the same. By virtue of evolutionary changes digital lengths vary from person to person according to age, sex, races, occupation or even environmental influences. It has been found that the digital lengths are not even same in both hands of an individual. In this study, this variation of the index finger (2D) length has been analyzed and compared among the adult population of Bangladesh.
Materials & Methods: A cross sectional analytical study was conducted in the department of Anatomy, Dhaka Medical College, Dhaka, from July 2012 to June 2013. The study was performed on 200 MBBS students (18 years of age) of Dhaka Medical College, Dhaka. Among them 100 were male and 100 were female. With the help of digital vernier caliper measurements of digital lengths were recorded. Paired and unpaired students t tests were done for statistical analysis of the results.
Results: The mean length value of right index finger (R2D) and left index finger (L2D) was greater in male than female (P<0.001). Significant difference between the length of right index finger (R2D) and left index finger (L2D) was observed in male (P<0.05) where left index finger length (L2D) was slightly higher than right index finger length (R2D) but in female the difference was not significant (P> 0.05).
Conclusion: Digital lengths especially index (2D) and ring (4D) finger lengths are often use to determine sexual dimorphism. Also, study over the variations of digital lengths have great medicolegal importance to determine age, sex and race of an individual.
Bangladesh J. Anat. 2015; 13(1) : 27-31
Self-differentiation and parenting stress in adolescent mothers. An exploratory study
Authors: Salerno Alessandra , Tosto Monica , Raciti Iolanda , Merenda Aluette 
Published: April 2024

IntroductionAdolescent motherhood, a phenomenon that has a strong social impact, is explored, focusing particularly on the mother's psychosocial development, parental role, skill, and parenting-related stress.MethodsThis study aims to analyze the connection between maternal self-differentiation in first-time mothers (aged between 15 and 20 years old) and parenting stress levels, including some moderating variables, such as dyadic adjustment, maternal self-esteem, and perceived social support.ResultsThe analyses highlighted the following significant results: emotional cutoff and fusion with others are predictors of parenting stress (β = −0.38, p &lt; 0.05, and β = 0.36, p = 0.05, respectively); emotional cutoff is also found to be a significant predictor of parent–child dysfunctional interaction (β = −0.42, p &lt; 0.05), while fusion with others predicts a mother's perception of her child as difficult (β = 0.39, p &lt; 0.05); a predictive effect of the positive self-worth on a mother's perception of having a difficult child is found (β = −0.37, p &lt; 0.05); and a predictive effect of dyadic cohesion on a mother's perception of having a difficult child (β = −0.40, p &lt; 0.05) is found.DiscussionThe results are discussed from a sociocultural perspective, and their implications on early motherhood, especially in Italy, are considered.
Risk factors and a predictive model for the occurrence of adverse outcomes in patients with new-onset refractory status epilepsy
Authors: Luo Qiuyan , Lai Rong , Su Miao , Wu Zichao , Feng Huiyu , Zhou Hongyan 
Published: April 2024

ObjectivesTo determine risk factors for the occurrence of adverse outcomes in patients with new-onset refractory status epilepsy (NORSE) and to construct a concomitant nomogram.MethodsSeventy-six adult patients with NORSE who were admitted to the Department of Neurology, First Affiliated Hospital of Sun Yat-sen University between January 2016 and December 2022 were enrolled for the study. Participants were divided into two—those with good and poor functional outcomes—and their pertinent data was obtained from the hospital medical recording system. Univariate analysis was used to identify potential causes of poor outcomes in both groups and a multivariate logistic regression model was used to identify risk factors for the occurrence of poor outcomes. Using the R programming language RMS package, a nomogram was created to predict the occurrence of poor outcomes.ResultsThe NORSE risk of adverse outcome nomogram model included four predictors, namely duration of mechanical ventilation (OR = 4.370, 95% CI 1.221–15.640, p = 0.023), antiviral therapy (OR = 0.045, 95% CI 0.005–0.399, p = 0.005), number of anesthetics (OR = 13.428, 95% CI 2.16–83.48, p = 0.005) and neutrophil count/lymphocyte count ratio (NLR) (OR = 5.248, 95% CI 1.509–18.252, p = 0.009). The nomogram had good consistency and discrimination in predicting risk and can thus assist clinical care providers to assess outcomes for NORSE patients. Through ordinary bootstrap analyses, the results of the original set prediction were confirmed as consistent with those of the test set.ConclusionThe nomogram model of risk of adverse outcomes in NORSE adult patients developed in this study can facilitate clinicians to predict the risk of adverse outcomes in NORSE patients and make timely and reasonable interventions for patients at high risk of adverse outcomes.