bluuebunny/crossref_metadata_2025_split huggingface dataset:
The genetic basis of early-onset hereditary ataxia in Iran: results of a national registry of a heterogeneous population
Authors: Mahdieh Nejat , Heidari Morteza , Rezaei Zahra , Tavasoli Ali Reza , Hosseinpour Sareh , Rasulinejad Maryam , Dehnavi Ali Zare , Ghahvechi Akbari Masoud , Badv Reza Shervin , Vafaei Elahe , Mohebbi Ali , Mohammadi Pouria , Hosseiny Seyyed Mohammad Mahdi , Azizimalamiri Reza , Nikkhah Ali , Pourbakhtyaran Elham , Rohani Mohammad , Khanbanha Narges , Nikbakht Sedigheh , Movahedinia Mojtaba , Karimi Parviz , Ghabeli Homa , Hosseini Seyed Ahmad , Rashidi Fatemeh Sadat , Garshasbi Masoud , Kashani Morteza Rezvani , Ghiasvand Noor M. , Zuchner Stephan , Synofzik Matthis , Ashrafi Mahmoud Reza 
Published: April 2024

Abstract
Background
To investigate the genetics of early-onset progressive cerebellar ataxia in Iran, we conducted a study at the Children’s Medical Center (CMC), the primary referral center for pediatric disorders in the country, over a three-year period from 2019 to 2022. In this report, we provide the initial findings from the national registry.

Methods
We selected all early-onset patients with an autosomal recessive mode of inheritance to assess their phenotype, paraclinical tests, and genotypes. The clinical data encompassed clinical features, the Scale for the Assessment and Rating of Ataxia (SARA) scores, Magnetic Resonance Imaging (MRI) results, Electrodiagnostic exams (EDX), and biomarker features. Our genetic investigations included single-gene testing, Whole Exome Sequencing (WES), and Whole Genome Sequencing (WGS).

Results
Our study enrolled 162 patients from various geographic regions of our country. Among our subpopulations, we identified known and novel pathogenic variants in 42 genes in 97 families. The overall genetic diagnostic rate was 59.9%. Notably, we observed PLA2G6, ATM, SACS, and SCA variants in 19, 14, 12, and 10 families, respectively. Remarkably, more than 59% of the cases were attributed to pathogenic variants in these genes.

Conclusions
Iran, being at the crossroad of the Middle East, exhibits a highly diverse genetic etiology for autosomal recessive hereditary ataxia. In light of this heterogeneity, the development of preventive strategies and targeted molecular therapeutics becomes crucial. A national guideline for the diagnosis and management of patients with these conditions could significantly aid in advancing healthcare approaches and improving patient outcomes.
Assessment of the locational potential of floating offshore wind energy in South Africa
Authors: Umoh Kubiat , Hasan Abbas , Kenjegaliev Amangeldi , Al-Qattan Ayman 
Published: April 2024

AbstractExpanding floating wind into new markets could support emission reduction targets in several national contexts. It furthers the need for adequate assessments to gain a full understanding of the technology’s potential in future markets. South Africa is a prime case study as it has seen limited industry and policy developments despite its huge technical potential for floating offshore wind (FOW). This paper assessed the locational potential of floating wind in South Africa through a three-phased approach that evaluated the key technical drivers/barriers of the technology, conducted a Geographic Information System analysis (GIS) using ArcMap 10.8 to exclude unsuitable sites based on a predetermined exclusion criteria (including marine protected zones, underwater cables, major oil and gas deposits, etc.), and estimated the total harvestable capacity in the feasible sites. The study found that 2% (246,105.4 km2) of South Africa’s entire Exclusive Economic Zone (EEZ) is suitable for hosting floating wind turbines, with a potential to generate a maximum of 142.61 GW of floating wind power. Although the Western Cape province holds the highest potential (80.52 GW) for floating wind in the country, the Eastern Cape region, with a locational potential of 20.04 GW, is considered most suitable for early-stage developments due to the availability of grid connection points, limited marine traffic, and proximity to appropriate port facilities. Future work can conduct techno-economic assessments to evaluate the technical and economic implications of developing floating wind in distinct sites in the country’s EEZ.
Anesthesia experience in an adult Silver-Russell syndrome: a case report
Authors: Hibino Akinobu , Hibino Ayaka , Kamiya Yoshinori 
Published: April 2024

Abstract
Background
There are no reports of anesthesia use in adult patients with Silver-Russell syndrome (SRS). Here, we report our experience with anesthesia in an adult patient with SRS complicated by chronic respiratory failure.

Case presentation
A 33-year-old woman was clinically diagnosed with SRS. She had severe chronic respiratory failure, complicated by superior mesenteric artery syndrome. Percutaneous gastrostomy was scheduled for nutritional management under epidural anesthesia; however, soon after esophagogastroduodenoscopy was started, she lost consciousness and spontaneous respiration. The patient was urgently intubated and converted to general anesthesia. The end-tidal carbon dioxide tension was > 90 mmHg at intubation.

Conclusions
Adult SRS patients with chronic respiratory failure have a risk of CO2 narcosis. SRS also requires preparation for difficult airway management during the perioperative period.
Application of artificial intelligence to eyewitness identification
Authors: Kleider-Offutt Heather , Stevens Beth , Mickes Laura , Boogert Stewart 
Published: April 2024

AbstractArtificial intelligence is already all around us, and its usage will only increase. Knowing its capabilities is critical. A facial recognition system (FRS) is a tool for law enforcement during suspect searches and when presenting photos to eyewitnesses for identification. However, there are no comparisons between eyewitness and FRS accuracy using video, so it is unknown whether FRS face matches are more accurate than eyewitness memory when identifying a perpetrator. Ours is the first application of artificial intelligence to an eyewitness experience, using a comparative psychology approach. As a first step to test system accuracy relative to eyewitness accuracy, participants and an open-source FRS (FaceNet) attempted perpetrator identification/match from lineup photos (target-present, target-absent) after exposure to real crime videos with varied clarity and perpetrator race. FRS used video probe images of each perpetrator to achieve similarity ratings for each corresponding lineup member. Using receiver operating characteristic analysis to measure discriminability, FRS performance was superior to eyewitness performance, regardless of video clarity or perpetrator race. Video clarity impacted participant performance, with the unclear videos yielding lower performance than the clear videos. Using confidence-accuracy characteristic analysis to measure reliability (i.e., the likelihood the identified suspect is the actual perpetrator), when the FRS identified faces with the highest similarity values, they were accurate. The results suggest FaceNet, or similarly performing systems, may supplement eyewitness memory for suspect searches and subsequent lineup construction and knowing the system’s strengths and weaknesses is critical.
The phosphoethanolamine transferase PetL of Pasteurella multocida is associated with colistin resistance
Authors: Yang Jie , Lin Lin , Bi Haixin , Shi Congcong , Lv Qingjie , Hua Lin , Chen Huanchun , Wu Bin , Peng Zhong 
Published: April 2024

AbstractThe rapid emergence and spread of colistin-resistant gram-negative bacteria has raised worldwide public health concerns, and phosphoethanolamine (PEtn) transferase modification-mediated colistin resistance has been widely documented in multiple gram-negative bacterial species. However, whether such a mechanism exists in the zoonotic pathogen Pasteurella multocida is still unknown. Recently, a novel PEtn transferase, PetL, was identified in P. multocida, but whether it is associated with colistin resistance remains to be elucidated. In this study, we found that PetL in P. multocida (PetLPM) exhibited structural characteristics similar to those of the mobile-colistin-resistant (MCR) protein and the PEtn transferase characterized in Neisseria meningitidis. The transformation of petLPM into E. coli or K. pneumoniae changed the phenotype of several tested strains from colistin sensitive to colistin resistant. Deletion of this gene decreased the colistin minimum inhibitory concentration (MIC) of P. multocida by 64-fold. Our extensive analysis by MALDI-TOF–MS demonstrated that PetLPM participated in the modification of bacterial lipopolysaccharide (LPS)-lipid A. Deletion of petLPM led to an increase in membrane charge but a decrease in cell-surface hydrophobicity and cell permeability in P. multocida. The present study is the first to report the presence of PEtn transferase-mediated colistin resistance in the zoonotic pathogen P. multocida.
Neurodevelopmental defects in a mouse model of O-GlcNAc transferase intellectual disability
Authors: Authier Florence , Ondruskova Nina , Ferenbach Andrew T. , McNeilly Alison D. , van Aalten Daan M. F. 
Published: April 2024

ABSTRACT
The addition of O-linked β-N-acetylglucosamine (O-GlcNAc) to proteins (referred to as O-GlcNAcylation) is a modification that is crucial for vertebrate development. O-GlcNAcylation is catalyzed by O-GlcNAc transferase (OGT) and reversed by O-GlcNAcase (OGA). Missense variants of OGT have recently been shown to segregate with an X-linked syndromic form of intellectual disability, OGT-linked congenital disorder of glycosylation (OGT-CDG). Although the existence of OGT-CDG suggests that O-GlcNAcylation is crucial for neurodevelopment and/or cognitive function, the underlying pathophysiologic mechanisms remain unknown. Here we report a mouse line that carries a catalytically impaired OGT-CDG variant. These mice show altered O-GlcNAc homeostasis with decreased global O-GlcNAcylation and reduced levels of OGT and OGA in the brain. Phenotypic characterization of the mice revealed lower body weight associated with reduced body fat mass, short stature and microcephaly. This mouse model will serve as an important tool to study genotype-phenotype correlations in OGT-CDG in vivo and for the development of possible treatment avenues for this disorder.
Facial morphology analysis of children with non-syndromic cleft lip and palate in a local population
Authors: Anjum Rabia , Mahmood Saqib , Nagi A H , Chaudhry Saima 
Published: April 2024

Objectives: To study the facial morphology in children with non-syndromic cleft lip and palate by applying numerical facial analysis on photographs for planning and evaluating treatment outcomes.
Methods: This descriptive study was conducted from March 2020 to July 2020 in the Department of Oral Pathology, University of Health Sciences and Cleft Lip and Palate Hospital, Lahore Pakistan. A total of 104 patients of both genders with an age range from three months to thirteen years were included. Photographs of the participants were taken to measure facial anthropometrical landmarks including facial height, nose width, mouth width and inter canthal distance. The association between facial measurements with gender and phenotype and across age groups were computed keeping the confidence level at 95%.
Results: Mean age of the children was 72.43±44.2 months with slight male predominance. Thirty-one percent presented with bilateral cleft lip and palate followed by unilateral cleft lip and plate. Total mean facial height, nose width and mouth width were found to be 143.46±21.52mm, 32.24±5.03mm and 33.71±4.38mm respectively. Intercanthal distance was measured to be 31.04±5.99mm. Statistically significant association was observed between gender and facial height, nose width, mouth width and Intercanthal distance.
Conclusion: Facial anthropometric measures done on frontal photographs can be used to identify the facial landmarks in children with non-syndromic cleft lip and palate in low resource stings that may help surgeons in getting better aesthetic outcomes. These landmarks vary between ethnic groups therefore these should be specific to a particular race and ethnicity so as to ensure proper aesthetics and improved quality of life for the children of all nations.
doi: https://doi.org/10.12669/pjms.40.5.8485
How to cite this: Anjum R, Mahmood S, Nagi AH, Chaudhry S. Facial morphology analysis of children with non-syndromic cleft lip and palate in a local population. Pak J Med Sci. 2024;40(5):---------. doi: https://doi.org/10.12669/pjms.40.5.8485
This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/3.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
Symptoms and main features of personality formation of a psychopath
Authors: Spytska Liana 
Published: April 2024

Aim of the studyThe research relevance is predefined by the fact today the concept of psychopathy is in a state of transition, as experts describe the disorder on a superficial level. In this regard, the research aims to analyze the main symptoms and characteristics of psychopathy, the analysis of the behavior of individuals with psychopathic traits.Subject or material and methodsThe primary research methods are analysis and synthesis, comparisons and analogies, and a survey was conducted among Internet users.ResultsThe research considers the insufficient awareness of the manifestations and factors of the diagnosis, in addition, a significant number of psychopathic individuals remain without the attention of psychiatrists, which makes it impossible to detect pathologies among a part of the population.DiscussionThe article emphasizes the issue of behavioral manifestations during the interaction of internal and external factors, building relationships with the environment, susceptibility to disorders depending on gender, the influence of genetic or acquired defects in the process of certain activities, as well as functioning and organization of the brain of a person with psychopathic disorders.ConclusionsIt was concluded that the characteristics of psychopathic personality disorder aimed at studying the needs and motivations of psychopaths, and a number of essential proposals for diagnosing psychopathy through the identification of common key signs are offered. The research is of theoretical and practical value for psychologists, psychoanalysts, and physicians for the purposes of theoretical and practical study of the characteristic features of psychopathy and significantly deepen knowledge about this disorder.
COVID-19 and older workers’ mental health: data from 27 countries
Authors: Skałacka Katarzyna , Pajestka Grzegorz 
Published: April 2024

Aim of the studyThe COVID-19 pandemic has brought radical changes to the vocational landscape, especially in its first wave. Many workers successfully established a new workspace in their home, but this transition to remote work has reduced opportunities for informal social interactions while requiring the learning of new skills and creating new work–home interference. The aim of this study was to identify how changes in working conditions caused by the first wave of the COVID-19 pandemic are related to the mental health of older workers from 27 countries.Subject or material and methodsOur study was based on Wave 8 of the Survey of Health, Ageing and Retirement in Europe, targeted to the COVID-19 living situation of people aged 50 years and older.ResultsOur findings suggest that older people forced by the pandemic into at-home and “hybrid” working evaluated their mental health as poorer than those who continued to work at their usual workplace did. Respondents whose working hours changed, whether they increased or decreased, also reported poorer mental health than those with no changes did. However, these results were gender dependent.DiscussionBoth modes of remote working were more of a burden for women than for men, and current physical health status was more important in predicting women’s mental health than men’s.ConclusionsTransition to remote working and dealing with work–home interference is highly relevant to understanding changes in older workers’ mental health.
Support from advanced practitioners in critical care for ankle fracture dislocation
Authors: Morrison Craig , Renfrew Linda , McHenry Ryan 
Published: April 2024

Background: Analgesic imitations, under-recognition of injury severity and delayed restoration of neutral alignment are common problems around ankle fracture dislocation (AFD). Optimal prehospital management improves long-term outcomes. Aims: This study aimed to explore ambulance clinicians' experiences of AFD incidents when supported by advanced practitioners in critical care (APCCs). Methods: Semi-structured online interviews were conducted. Data sets were coded and grouped to identify themes via thematic content analysis. Findings: Six clinicians agreed to take part (response rate 42%). AFDs were encountered infrequently (once per year). Four themes were identified: clinicians' confidence in managing AFD; value-added role of APCCs; prehospital challenges; and reflections on the incident. Conclusions: Benefits of the APCC role include enhanced technical skills, including in ankle reduction and analgesia, and in non-technical skills, such as leadership and decision-making. Improvements in clinician recognition and management of AFD and better awareness of the APCC role are recommended, as is research on optimal prehospital AFD management.
High-tolerance reconfigurable MZI racetrack resonator on a 3-µm-thick SOI photonics platform
Authors: Lee Ang , Zhao Nengyang , Liu Chenyang , Wang Ruxue , Ding Yanyue , Qiu Chao , Wu Aimin 
Published: April 2024

Integration of resonators impacts the utilization of the 3-µm-thick silicon-on-insulator (SOI) platform in photonics integrated circuits (PICs). We propose an integrated resonator leveraging a deep-etch silicon waveguide. Through the utilization of a tunable coupler based on multimode interferometers (MMIs), the resonator achieves high fabrication tolerance and reconfigurability. In a critical-coupling state, it serves as a filter with an extinction ratio (ER) of 23.5 dB and quality (Q) factor of 3.1×105, operating within the range of 1530–1570 nm. In an extreme over-coupling state, it functions as a large-bandwidth delay line, offering continuous change in delay time of 22 ps, nearly wavelength-independent. This work provides devices to the 3-µm-thick silicon photonics device library, enriching the potential applications of this technology platform.
Optical cavity reaching 10-16 frequency stability with compact optical circulator based in-coupling optics
Authors: Wegehaupt Timm , Sanjuan Jose , Gohlke Martin , Grafe Pascal , Kumanchik Lee , Oswald Markus , Schuldt Thilo , Braxmaier Claus 
Published: April 2024

Future space missions will benefit from highly stable and compact optical frequency references. While many promising technologies are currently under investigation, optical cavities are a well-suited technique for applications in which relative references are required. To improve the frequency stability of optical cavities, a key step in combining high performance with compactness and robustness is the further development of in-coupling optics. Here, we present our work of using a fiber-coupled circulator based in-coupling for a high-finesse optical cavity. Implementing the new, to the best of our knowledge, in-coupling board to an extensively characterized crossed cavity set-up allows us to identify possible differences to the commonly used free-beam technique. With a frequency stability of 5.5×10−16Hz−1/2 at 1 Hz and with only a slight degradation in frequency stability below the mHz range, no circulator-caused instabilities were observed.
TIM3 activates the ERK1/2 pathway to promote invasion and migration of thyroid tumors
Authors: Jin Xiao , Yin Zhibo , Li Xiaoyu , Guo Hao , Wang Bo , Zhang Shanshan , Li Yong 
Published: April 2024

Background
This study aims to study the possible action mechanism of T-cell immunoglobulin and mucin domain 3 (TIM3) on the migratory and invasive abilities of thyroid carcinoma (TC) cells.

Methods
GSE104005 and GSE138198 datasets were downloaded from the GEO database for identifying differentially expressed genes (DEGs). Functional enrichment analysis and protein-protein interaction (PPI) analysis were performed on the common DEGs in GSE104005 and GSE138198 datasets. Subsequently, in order to understand the effect of a common DEG (TIM3) on TC cells, we performed in vitro experiments using FRO cells. The migratory and invasive abilities of FRO cells were detected by wound scratch assay and Transwell assay. Proteins expression levels of the phosphorylated (p)-extracellular signal-regulated kinase (ERK)1/2, matrix metalloproteinase-2 (MMP-2) and MMP-9 were determined via Western blotting after ERK1/2 inhibition in TIM3-NC group and TIM3-mimic group.

Results
316 common DEGs were identified in GSE104005 and GSE138198 datasets. These DEGs were involved in the biological process of ERK1 and ERK2 cascade. TIM3 was significantly up-regulated in TC. In vitro cell experiments showed that TIM3 could promote migration and invasion of TC cells. Moreover, TIM3 may affect the migration, invasive abilities of TC cells by activating the ERK1/2 pathway.

Conclusion
The above results indicate that TIM3 may affect the migratory and invasive of TC cells by activating the ERK1/2 pathway.
Some Biographical Notes on Artists of Sacred Sufi Painting in Kano, Nigeria
Authors: Nasidi Nadir A. 
Published: April 2024

Abstract
The Sufi Islamic leader, Sheikh Ibrahim Niass first came to Kano in 1937. His repeated visits paved the way for the development of Sufi artists in Kano. Through their representational art, they celebrate the various Sufi saints, particularly those of the Qādiriyyah and Tijjāniyyah Sufi orders. This article puts the growth of Sufi representational art in the context of the history of Tijjāniyyah Islam in Kano by examining the biographies and works of six Kano artists and their sacred Sufi painting, from the 1980s to the present day. This article concludes that paintings of Sufi saints by these artists, which countered alternative aniconic views associated with some branches of Islam, contributed not only to the development of representational paintings in Kano, but also to the acceptance of Western media, styles, and techniques in their visual representations of such paintings.
Sanitation and Public Hygiene in Rural and Mining Communities in Southern Gold Coast (Colonial Ghana), c. 1878–c. 1950
Authors: Amoako-Gyampah Akwasi Kwarteng 
Published: April 2024

Abstract
One of the enduring public health challenges confronting British colonial officials in colonial Ghana was the management of sanitation and public hygiene. Colonial officials charged that many Gold Coast communities presented sanitary challenges that posed a risk to public health. Thus, the need to ensure the sanitation of Gold Coast communities was one of the earliest preoccupations of the British colonial administration. Yet, many scholarly works on sanitation and public hygiene in colonial Ghana, in particular, and colonial Africa have focused mainly on urban areas. This article, thus examines how the British colonial administration managed sanitation and public hygiene in rural communities, mining towns and adjoining villages in southern Gold Coast. The article reveals that the colonial administration's attitude towards sanitation and public hygiene in rural and mining communities was passive and did not consider the management of sanitation in these areas as an important function of the colonial administration. Instead, sanitation and public hygiene work in rural communities were devolved to local chiefs who could hardly mobilize enough resources to address the many sanitary challenges. In mining areas, the task was assigned to mine managers whose commitment to ensuring proper sanitary arrangements within their African mining camps remained half-hearted.