bluuebunny/crossref_metadata_2025 huggingface dataset:
Flaggite, Pb4Cu2+4Te6+2(SO4)2O11(OH)2(H2O), a new mineral with stair-step-like HCP layers from Tombstone, Arizona, USA
Authors: Kampf Anthony R. , Mills Stuart J. , Celestian Aaron J. , Ma Chi , Yang Hexiong , Thorne Brent
Published: April 2022

The new mineral flaggite (IMA2021-044), Pb4Cu2+4Te6+2(SO4)2O11(OH)2(H2O), occurs at the Grand Central mine in the Tombstone district, Cochise County, Arizona, USA, in cavities in quartz matrix in association with alunite, backite, cerussite, jarosite and rodalquilarite. Flaggite crystals are lime-green to yellow-green tablets, up to 0.5 mm across. The mineral has a very pale green streak and adamantine lustre. It is brittle with irregular fracture and a Mohs hardness of ~3. It has one excellent cleavage on {010}. The calculated density is 6.137 g cm–3. Optically, the mineral is biaxial (+) with α = 1.95(1), β = 1.96(1), γ = 2.00(1) (white light); 2V = 54(2)°; pleochroism:Xgreen,Ylight yellow green,Znearly colourless;X>Y>Z. The Raman spectrum exhibits bands consistent with TeO6and SO4. Electron microprobe analysis provided the empirical formula Pb3.88Cu2+3.89Te6+2.08(SO4)2O11(OH)2(H2O) (–0.03 H). Flaggite is triclinic,P1,a= 9.5610(2),b= 9.9755(2),c= 10.4449(3) Å, α = 74.884(1), β = 89.994(1), γ = 78.219(1)°,V= 939.97(4) Å3andZ= 2. The structure of flaggite (R1= 0.0342 for 5936I> 2σI) contains hexagonal-close-packed, stair-step-like layers comprising TeO6octahedra and Jahn-Teller distorted CuO6octahedra. The layers in the structure of flaggite are very similar to those in bairdite, timroseite and paratimroseite.
One-Step Solvothermal Synthesis of Ni Nanoparticle Catalysts Embedded in ZrO2 Porous Spheres to Suppress Carbon Deposition in Low-Temperature Dry Reforming of Methane
Authors: Meiliefiana Meiliefiana , Nakayashiki Tsuzumi , Yamamoto Emi , Hayashi Kahoko , Ohtani Masataka , Kobiro Kazuya
Published: April 2022

Ni nanoparticle catalysts embedded in ZrO2 porous spheres and ZrO2 porous composite spheres, SiO2-ZrO2, MgO-ZrO2, and Y2O3-ZrO2, with 83−115 nm diameter and 167–269 m2/g specific surface area were prepared by a one-pot and one-step solvothermal reaction from precursor solutions consisting of Ni(NO3)2‧6H2O, Zr(OnBu)4, and acetylacetone in moist ethanol combined with either Si(OEt)4, magnesium acetylacetate, or Y(OiPr)3. The obtained Ni catalysts have high specific surface areas of 130–196 m2/g, even after high-temperature reduction by H2 at 450 °C for 2 h. They were utilized as catalysts for low-temperature dry reforming of methane (DRM) at 550 °C to suppress carbon deposition on Ni nanoparticles. The Ni catalysts embedded in SiO2-ZrO2 and Y2O3-ZrO2 demonstrated high catalytic activity and long stability in the reaction. Moreover, carbon deposition on Ni nanoparticles in the DRM reaction was effectively suppressed in when using the SiO2-ZrO2 and Y2O3-ZrO2 composites.

Graphical abstract
Moving translational mass spectrometry imaging towards transparent and reproducible data analyses: a case study of an urothelial cancer cohort analyzed in the Galaxy framework
Authors: Föll Melanie Christine , Volkmann Veronika , Enderle-Ammour Kathrin , Timme Sylvia , Wilhelm Konrad , Guo Dan , Vitek Olga , Bronsert Peter , Schilling Oliver
Published: April 2022

Background

Mass spectrometry imaging (MSI) derives spatial molecular distribution maps directly from clinical tissue specimens and thus bears great potential for assisting pathologists with diagnostic decisions or personalized treatments. Unfortunately, progress in translational MSI is often hindered by insufficient quality control and lack of reproducible data analysis. Raw data and analysis scripts are rarely publicly shared. Here, we demonstrate the application of the Galaxy MSI tool set for the reproducible analysis of a urothelial carcinoma dataset.

Methods

Tryptic peptides were imaged in a cohort of 39 formalin-fixed, paraffin-embedded human urothelial cancer tissue cores with a MALDI-TOF/TOF device. The complete data analysis was performed in a fully transparent and reproducible manner on the European Galaxy Server. Annotations of tumor and stroma were performed by a pathologist and transferred to the MSI data to allow for supervised classifications of tumor vs. stroma tissue areas as well as for muscle-infiltrating and non-muscle infiltrating urothelial carcinomas. For putative peptide identifications, m/z features were matched to the MSiMass list.

Results

Rigorous quality control in combination with careful pre-processing enabled reduction of m/z shifts and intensity batch effects. High classification accuracy was found for both, tumor vs. stroma and muscle-infiltrating vs. non-muscle infiltrating urothelial tumors. Some of the most discriminative m/z features for each condition could be assigned a putative identity: stromal tissue was characterized by collagen peptides and tumor tissue by histone peptides. Immunohistochemistry confirmed an increased histone H2A abundance in the tumor compared to the stroma tissues. The muscle-infiltration status was distinguished via MSI by peptides from intermediate filaments such as cytokeratin 7 in non-muscle infiltrating carcinomas and vimentin in muscle-infiltrating urothelial carcinomas, which was confirmed by immunohistochemistry. To make the study fully reproducible and to advocate the criteria of FAIR (findability, accessibility, interoperability, and reusability) research data, we share the raw data, spectra annotations as well as all Galaxy histories and workflows. Data are available via ProteomeXchange with identifier PXD026459 and Galaxy results via https://github.com/foellmelanie/Bladder_MSI_Manuscript_Galaxy_links.

Conclusion

Here, we show that translational MSI data analysis in a fully transparent and reproducible manner is possible and we would like to encourage the community to join our efforts.
Factors associated with self-rated health in primary care in the South-Western health zone of Malawi
Authors: Kasenda Stephen , Meland Eivind , Hetlevik Øystein , Mildestvedt Thomas , Dullie Luckson
Published: April 2022

Background

Self-rated health (SRH) is a single-item measure of current health, which is often used in community surveys and has been associated with various objective health outcomes. The prevalence and factors associated with SRH in Sub-Saharan Africa remain largely unknown. This study sought to investigate: (1) the prevalence of poor SRH, (2) possible associations between SRH, and socio-demographic and clinical parameters, and (3) associations between SRH and the patients’ assessment of the quality of primary care.

Methods

A cross-sectional study was conducted in 12 primary care facilities in Blantyre, Neno, and Thyolo districts of Malawi among 962 participants who sought care in these facilities. An interviewer-administered questionnaire containing the Malawian primary care assessment tool, and questions on socio-demographic characteristics and self-rated health was used for data collection. Descriptive statistics were used to determine the distribution of variables of interest and binary logistic regression was used to determine factors associated with poor SRH.

Results

Poor SRH was associated with female sex, increasing age, decreasing education, frequent health care attendance, and with reported disability. Patients content with the service provided and who reported higher scores of relational continuity from their health care providers reported better SRH as compared with others.

Conclusion

This study reports findings from a context where SRH is scarcely examined. The prevalence of poor SRH in Malawi is in line with findings from clinical populations in other countries. The associations between poor SRH and socio-demographic factors are also known from other populations. SRH might be improved by emphasizing continuity of care in primary care services.
The use of postal audit and feedback among Irish General Practitioners for the self – management of antimicrobial prescribing: a qualitative study
Authors: Roche Kevin F. , Morrissey Eimear C. , Cunningham Julie , Molloy Gerard J.
Published: April 2022

Objective

Inappropriate use of antibiotics has been acknowledged as a significant contributor to the proliferation of antimicrobial resistance worldwide. Physician prescribing of antibiotics has been identified as a factor in the inappropriate use of antibiotics. One methodology that is used in an attempt to alter physician prescribing behaviours is audit and feedback. This study aimed to explore the perceptions of Irish General Practitioners (GPs) towards the national introduction of postal feedback on their antibiotic prescribing behaviours beginning in 2019.

Design

A qualitative descriptive methodology was used. Semi–structured interviews were conducted with GPs in receipt of postal audit and feedback.

Method

GPs working in Ireland and in receipt of postal audit and feedback on their antibiotic prescribing behaviours participated in phone-based interviews. The interviews were recorded and transcribed verbatim. The collected data was then analysed using an inductive thematic analysis.

Results

Twelve GPs participated in the study (female = 5). Three themes were identified from the analysis. The themes identified were the reliability and validity of the feedback received, feedback on antibiotic prescribing is useful but limited and feedback needs to be easily digestible.

Conclusion

While the postal audit and feedback were broadly welcomed by the participants, the themes identified a perceived limitation in the quality of the feedback data, the perception of a likely low public health impact of the feedback and difficulties with efficiently processing the audit and feedback information. These findings can help refine future audit and feedback interventions on antibiotic prescribing.
Invasive Aspergillus outbreak in inhalation injury: a case presentation and literature review
Authors: Liu Shengli , Li Zonghang , Zheng Jiansheng , He Ning
Published: April 2022

Background

Invasive pulmonary aspergillosis often occurs in patients with poor immune function, who abuse steroids or broad-spectrum antibiotics, or who use intravenous drugs. Among the Aspergillus genus of pulmonary infection, Aspergillus fumigatus is the most important pathogen, followed by Aspergillus flavus, Aspergillus niger, and Aspergillus terreus. Inhalation injury complicated by Aspergillus infection has atypical clinical manifestations. Diagnosis is difficult, and it is easy to make mistakes in treatment. Moreover, there are few cases of burn inhalation injury complicated with pulmonary Aspergillus.

Case presentation

We report a case of severe burns combined with severe inhalation injury, early pulmonary aspergillosis, and severe respiratory failure due to treatment discontinuation. Through analyzing the processes of diagnosis and treatment in the present case and performing a literature review, we explore feasible diagnosis and treatment plans.

Conclusions

Early application of a variety of diagnostic measures can be used to identify Aspergillus infection, and targeted anti-infection treatment is likely to reverse a severe adverse prognosis.
Maternal lipid profile in pregnancy and embryonic size: a population-based prospective cohort study
Authors: Gootjes Dionne V. , Posthumus Anke G. , Wols Deveney F. , de Rijke Yolanda B. , Roeters Van Lennep Jeanine E. , Steegers Eric A. P.
Published: April 2022

Background

Lipids are crucial for fetal growth and development. Maternal lipid concentrations are associated with fetal growth in the second and third trimester of pregnancy and with birth outcomes. However, it is unknown if this association starts early in pregnancy or arises later during fetal development. The aim of this study was to investigate the association between the maternal lipid profile in early pregnancy and embryonic size.

Methods

We included 1474 women from the Generation R Study, a population based prospective birth cohort. Both embryonic size and the maternal lipid profile were measured between 10 weeks + 1 day and 13 weeks + 6 days gestational age. The maternal lipid profile was defined as total cholesterol, triglycerides (TG), high-density lipoprotein cholesterol (HDL-c), low-density lipoprotein cholesterol (LDL-c), remnant cholesterol, non-high-density (non-HDL-c) lipoprotein cholesterol concentrations and the triglycerides/high-density lipoprotein (TG/HDL-c) ratio. Additionally, maternal glucose concentrations were assessed. Embryonic size was assessed using crown-rump length (CRL) measurements. Associations were studied with linear regression models, adjusted for confounding factors: maternal age, pre-pregnancy body mass index (BMI), parity, educational level, ethnicity, smoking and folic acid supplement use.

Results

Triglycerides and remnant cholesterol concentrations are positively associated with embryonic size (fully adjusted models, 0.17 SDS CRL: 95% CI 0.03; 0.30, and 0.17 SDS: 95% CI 0.04; 0.31 per 1 MoM increase, respectively). These associations were not present in women with normal weight (triglycerides and remnant cholesterol: fully adjusted model, 0.44 SDS: 95% CI 0.15; 0.72). Associations between maternal lipid concentrations and embryonic size were not attenuated after adjustment for glucose concentrations. Total cholesterol, HDL-c, LDL-c, non-HDL-c concentrations and the TG/HDL-c ratio were not associated with embryonic size.

Conclusions

Higher triglycerides and remnant cholesterol concentrations in early pregnancy are associated with increased embryonic size, most notably in overweight women.

Trial registration

The study protocol has been approved by the Medical Ethics Committee of the Erasmus University Medical Centre (Erasmus MC), Rotterdam (MEC-2007-413). Written informed consent was obtained from all participants.
Machine learning-based multiparametric MRI radiomics for predicting poor responders after neoadjuvant chemoradiotherapy in rectal Cancer patients
Authors: Wang Jia , Chen Jingjing , Zhou Ruizhi , Gao Yuanxiang , Li Jie
Published: April 2022

Background

The purpose of this study was to investigate and validate multiparametric magnetic resonance imaging (MRI)-based machine learning classifiers for early identification of poor responders after neoadjuvant chemoradiotherapy (nCRT) in patients with locally advanced rectal cancer (LARC).

Methods

Patients with LARC who underwent nCRT were included in this retrospective study (207 patients). After preprocessing of multiparametric MRI, radiomics features were extracted and four feature selection methods were used to select robust features. The selected features were used to build five machine learning classifiers, and 20 (four feature selection methods × five machine learning classifiers) predictive models for the screening of poor responders were constructed. The predictive models were evaluated according to the area under the curve (AUC), F1 score, accuracy, sensitivity, and specificity.

Results

Eighty percent of all predictive models constructed achieved an AUC of more than 0.70. A predictive model using a support vector machine classifier with the minimum redundancy maximum relevance (mRMR) selection method followed by the least absolute shrinkage and selection operator (LASSO) selection method showed superior prediction performance, with an AUC of 0.923, an F1 score of 88.14%, and accuracy of 91.03%. The predictive performance of the constructed models was not improved by ComBat compensation.

Conclusions

In rectal cancer patients who underwent neoadjuvant chemoradiotherapy, machine learning classifiers with radiomics features extracted from multiparametric MRI were able to accurately discriminate poor responders from good responders. The techniques should provide additional information to guide patient-tailored treatment.
The treatment zone decentration and corneal refractive profile changes in children undergoing orthokeratology treatment
Authors: Lin Weiping , Gu Tianpu , Bi Hua , Du Bei , Zhang Bin , Wei Ruihua
Published: April 2022

Background

To confirm the association between treatment-zone (TZ) decentration and axial length growth (ALG) in children who underwent orthokeratology; and to explore the association between TZ decentration and relative corneal refractive power (RCRP) profile, which was known to be significantly associated with ALG retardation.

Methods

Four hundred myopic children of age 12 years participated in the study, with 200 wearing orthokeratology lenses and the other 200 wearing single-vision spectacle as the controls. Cycloplegic refraction was performed at baseline. Axial length was measured at baseline and 12 months after initial lens wear, and ALG was defined as the difference. In the ortho-k group, TZ decentration and the RCRP map were calculated from the topography map obtained at the 12-month visit. RCRP were summed within various chord radii from the cornea center, and the association to TZ decentration, spherical equivalent (SE), ALG were analyzed with linear regressions.

Results

Compared to the controls, children wearing orthokeratology lenses had significantly smaller ALG over 1 year (0.1 ± 0.15 mm vs. 0.32 ± 0.17 mm, p < 0.001). ALG was significantly and negatively associated with summed RCRP within the central cornea of 2 mm in radius. The mean TZ decentration was 0.62 ± 0.25 mm, and the mean direction was 214.26 ± 7.39 degrees. ALG was negatively associated with the TZ decentration magnitude (p < 0.01), but not the direction (p = 0.905). TZ decentration caused an asymmetrical distribution of the RCRP with the nasal side plus power shifting towards the corneal center. For chord radius ranging 1-2 mm, the association between TZ decentration and the summed RCRP were significant, and the proportion of variance accountable increased with chord radius. For chord radius beyond 1.5 mm, the association between baseline spherical equivalent (SE) and summed RCRP was significant. The portion of variance accountable by SE increased and peaked in 2.5 mm chord radius.

Conclusions

A larger TZ decentration was associated with a larger summed RCRP in the central cornea. It may be one of the possible reasons why TZ decentration is beneficial to retarding myopia progression.
How do economic and public finance statuses affect policy responses during a pandemic? – learning from the COVID-19 first wave
Authors: Imam Tasadduq , Uddin Shahadat
Published: April 2022

Background

In the time of a pandemic, it is typical for public health bodies to collaborate with epidemiologists to design health policies both at national and international levels for controlling the spread. A point largely overlooked in literature is the extent economic capability and public finance status can influence the policy responses of countries during a pandemic situation. This article fills this gap by considering 12 public health and 7 economic measures (i.e., policies) in 200 countries during the COVID-19 first wave, with countries grouped across income categories.

Methods

We apply statistical analysis, inclusive of regression models, to assess the impact of economic capability and public finance status on policy responses. Multiple open-access datasets are used in this research, and information from the hybrid sources are cumulated as samples. In our analysis, we consider variables including population characteristics (population size, density) and economic and public finance status (GDR, current account balance, government surplus/deficit) further to policy responses across public health and economic measures. Additionally, we consider infection rates across countries and the institution of the measures relative to infection rate.

Results

Results suggest that countries from all income groups have favoured public health measures like school closures and travel bans, and economic measures like influencing interest rates. However, strong economy countries have more adopted technological monitoring than low-income countries. Contrarily, low-income countries have preferred traditional measures like curfew and obligatory mask-wearing. GDP per capita was a statistically significant factor influencing the institution of both public health and economic measures. Government finance statuses like current account balance and surplus/deficit were also significant factors influencing economic measures.

Conclusions

Overall, the research reveals that, further to biological characteristics, policymakers and epidemiologists can consider the economic and public finance contexts when suggesting health responses to a pandemic. This, in turn, calls for more international cooperation on economic terms further to public health terms.
The economic burden of knee and hip osteoarthritis: absenteeism and costs in the Dutch workforce
Authors: Hardenberg Marrit , Speklé Erwin M. , Coenen Pieter , Brus Iris M. , Kuijer P. Paul F. M.
Published: April 2022

Background

This study aimed to quantify the absenteeism costs of knee and hip osteoarthritis in the Netherlands for the Dutch workforce and specific groups of workers.

Methods

We used a longitudinal, dynamic database from a large occupational health service in which occupational physicians register information about personal information and sick leave of workers with the diagnosis of knee- and/or hip osteoarthritis. We included all employees aged 15 to 75 years performing paid work and diagnosed with knee and/or hip osteoarthritis. Costs were calculated annually and per episode for different subgroups from an employer’s perspective using the Human Capital Approach. In the Netherlands, the employer has to pay 70% of the employee's wage out of pocket for the first two years of sick leave and also for the occupational health care. In this way, employers receive information about the costs of workers on sick leave due to knee or hip osteoarthritis. This might stimulate investments in targeted prevention and work-directed care.

Results

For the period 2015–2017, 1399 workers fulfilled the inclusion criteria. An average sick leave episode of knee osteoarthritis had a duration of 186 calendar days and was associated with €15,550 in costs. For hip osteoarthritis these data were 159 calendar days and €12,482 in costs. These costs are particularly high among male workers and workers with a higher number of weekly working hours. The average annual costs for the Dutch workforce due to sick leave for knee and hip osteoarthritis were €26.9 million and €13.8 million, respectively. Sick leave costs decreased for hip and not for knee osteoarthritis during 2015–2017.

Conclusions

Annual sick leave costs due to knee and hip osteoarthritis are about €40 million for the Dutch workforce and approximately twice as high for knee compared to hip osteoarthritis. Average costs per sick leave episode are particularly high among male workers and workers with a higher number of weekly working hours.
Effects of providing free hearing aids on multiple health outcomes among middle-aged and older adults with hearing loss in rural China: a randomized controlled trial
Authors: Ye Xin , Zhu Dawei , Chen Siyuan , Shi Xuefeng , Gong Rui , Wang Juncheng , Zuo Huibin , He Ping
Published: April 2022

Background

Hearing loss has been associated with serious health problems around the globe. Previous studies have found the positive effects of fitting hearing aids on health, but few studies were conducted in developing countries. The aim of this study is to examine the effects of hearing aids on multiple health outcomes among middle-aged and older adults with hearing loss in rural China.

Methods

In this randomized controlled trial (RCT), participants aged 45 and above were randomly assigned to the treatment group prescribing with hearing aids or to the control group with no intervention. Trial outcomes for 385 participants were collected during the 20-month follow-up study. Using the difference-in-difference approach, our primary outcomes were hearing-related quality of life (QoL) and generic QoL.

Results

The intervention led to improvements in hearing-related QoL, presenting as the reduction in Hearing Handicap Inventory for the Elderly Screening Version (HHIE-S) scores (interaction coefficient = − 2.86, p = 0.005), HHIE-S-Emotional scores (interaction coefficient = − 1.42, p = 0.029), and HHIE-S-Situational scores (interaction coefficient = − 1.43, p = 0.007). The intervention was also effective in alleviating the increase in depressive symptoms (interaction coefficient = − 0.14, p = 0.042). Subgroup analysis revealed that the effects were only shown among people with social activities or active social networks.

Conclusions

Our study is the first RCT in China to measure the health effects and heterogeneity of hearing aid interventions. Wearing hearing aids can help improve hearing-related QoL and alleviate the increase in depressive symptoms. The intervention is expected to be applicable to similar settings in other developing countries to combat hearing-related health problems.

Trial registration

Chinese Clinical Trial Registry, ChiCTR1900024739. Registered on 26 July 2019.
β-defensin 118 attenuates inflammation and injury of intestinal epithelial cells upon enterotoxigenic Escherichia coli challenge
Authors: Fu Qingqing , Lin Qian , Chen Daiwen , Yu Bing , Luo Yuheng , Zheng Ping , Mao Xiangbing , Huang Zhiqing , Yu Jie , Luo Junqiu , Yan Hui , He Jun
Published: April 2022

Background

Antimicrobial peptides including various defensins have been attracting considerable research interest worldwide, as they have potential to substitute for antibiotics. Moreover, AMPs also have immunomodulatory activity. In this study, we explored the role and its potential mechanisms of β-defensin 118 (DEFB118) in alleviating inflammation and injury of IPEC-J2 cells (porcine jejunum epithelial cell line) upon the enterotoxigenic Escherichia coli (ETEC) challenge.

Results

The porcine jejunum epithelial cell line (IPEC-J2) pretreated with or without DEFB118 (25 μg/mL) were challenged by ETEC (1×106 CFU) or culture medium. We showed that DEFB118 pretreatment significantly increased the cell viability (P<0.05) and decreased the expressions of inflammatory cytokines such as the interleukin-1β (IL-1β), interleukin-6 (IL-6), and tumor necrosis factor-α (TNF-α) in IPEC-J2 cells exposure to ETEC (P<0.05). Interestingly, DEFB118 pretreatment significantly elevated the abundance of the major tight-junction protein zonula occludens-1 (ZO-1), but decreased the number of apoptotic cells upon ETEC challenge (P<0.05). The expression of caspase 3, caspase 8, and caspase 9 were downregulated by DEFB118 in the IPEC-J2 cells exposure to ETEC (P<0.05). Importantly, DEFB118 suppressed two critical inflammation-associated signaling proteins, nuclear factor-kappa-B inhibitor alpha (IκB-α) and nuclear factor-kappaB (NF-κB) in the ETEC-challenged IPEC-J2 cells.

Conclusions

DEFB118 can alleviate ETEC-induced inflammation in IPEC-J2 cells through inhibition of the NF-κB signaling pathway, resulting in reduced secretion of inflammatory cytokines and decreased cell apoptosis. Therefore, DEFB118 can act as a novel anti-inflammatory agent.
Association of SORD mutation with autosomal recessive asymmetric distal hereditary motor neuropathy
Authors: Alluqmani Majed , Basit Sulman
Published: April 2022

Background

The aim of this study was to identify the underlying genetic defect in a family segregating autosomal recessive asymmetric hereditary motor neuropathy (HMN). Asymmetric HMN has not been associated earlier with SORD mutations.

Methods

For this study, we have recruited a family and collected blood samples from affected and normal individuals of a family. Detailed clinical examination and electrophysiological studies were carried out. Whole exome sequencing was performed to detect the underlying genetic defect in this family. The potential variant was validated using the Sanger sequencing approach.

Results

Clinical and electrophysiological examination revealed asymmetric motor neuropathy with normal nerve conduction velocities and action potentials. Genetic analysis identified a homozygous mononucleotide deletion mutation (c.757delG) in a SORD gene in a patient. This mutation is predicted to cause premature truncation of a protein (p.A253Qfs*27).

Conclusions

Interestingly, the patient with homozygous SORD mutation demonstrates normal motor and nerve conduction velocities and action potentials. The affected individual describes in this study has a unique presentation of asymmetric motor neuropathy predominantly affecting the right side more than the left as supported by the clinical examination. This is the first report of SORD mutation from Saudi Arabia and this study further expands the phenotypic spectrum of SORD mutation.
One-stage freehand minimally invasive pedicle screw fixation combined with mini-access surgery through OLIF approach for the treatment of lumbar tuberculosis
Authors: Fan Wenshuai , Yang Guangling , Zhou Tianyao , Chen Yanchao , Gao Zhenchao , Zhou Weili , Gu Yutong
Published: April 2022

Objective

To compare one-stage freehand minimally invasive pedicle screw fixation (freehand MIPS) combined with mini-access surgery through OLIF approach with posterior approach for treatment of lumbar tuberculosis (TB), and evaluate its feasibility, efficacy and safety in debridement, bone graft fusion and internal fixation.

Methods

48 patients with single segment lumbar TB from June 2014 to June 2017 were included. Among them, 22 patients underwent one-stage freehand MIPS combined with mini-access surgery through OLIF approach (group 1), 26 patients were treated with posterior open surgery (group 2). Duration of operation, blood loss, and stay time in hospital were compared. Pre- and postoperative visual analog scale (VAS) pain scores, Oswestry disability index (ODI), erythrocyte sedimentation rate, complications and images were also recorded.

Results

Patients in group 1 showed significantly less blood loss (165 ± 73 ml vs 873 ± 318 ml, P < 0.001), shorter stay time in hospital (6/4–8 days vs 12/8–15 days, P < 0.001), while longer duration of operation (185 ± 14 min vs 171 ± 12 min, P < 0.001) than group 2 did. VAS scores significantly decreased after surgery in both groups, however, VAS scores of group 1 were significantly lower than that of group 2 immediately after surgery and during follow-ups (P < 0.001). ODI of group 1 was also significantly lower than that of group 2 at 12-month after surgery (P < 0.001).

Conclusion

One-stage freehand MIPS combined with mini-access surgery through OLIF approach is a feasible, efficient and safe method in treating single segment lumbar TB. It shows advantages of less surgical trauma and faster postoperative recovery.
Gilbert or Crigler–Najjar syndrome? Neonatal severe unconjugated hyperbilirubinemia with P364L UGT1A1 homozygosity
Authors: Cozzi Laura , Nuti Federica , Degrassi Irene , Civeriati Daniela , Paolella Giulia , Nebbia Gabriella
Published: April 2022

Background

Several mutations of bilirubin uridine diphosphate-glucuronosyltransferase gene (UGT1A1) have been reported in patients with unconjugated hyperbilirubinemia. Few reports are available about the p.Pro364Leu mutation (P364L, c.1091C > T) in homozygous newborns. We describe the clinical, laboratory and therapeutic approach in two Chinese neonates with severe jaundice, homozygous for the P364L mutation.

Case presentation

Two Chinese breastfed female infants presented prolonged unconjugated hyperbilirubinemia at the age of 1 month. Total bilirubin was higher than 15 mg/dl (D < 1). An exhaustive etiological work-up to detect possible causes of hyperbilirubinemia (notably hemolytic ones) was negative.

The promoter and coding regions of UGT1A1 were amplified by polymerase chain reaction (PCR) from genomic DNA isolated from leukocytes. Both patients resulted homozygous for a variant site within the coding region of the gene in the 4 exon, c.1091C > T, p.Pro364Leu.

In front of the persistently high level of unconjugated bilirubin, phototherapy was performed without persistent results. A treatment with phenobarbital was then begun and bilirubin level progressively decreased, with a complete and persistent normalization. The therapy was stopped.

Conclusion

UGT1A1 enzyme activity associated with the P364L mutation has been described as 35.6% of the wild-type enzyme activity. Photo-therapy and phenobarbital can be useful in front of persistently high level of unconjugated bilirubin.

Our cases presented high bilirubin values, overlapping between Gilbert syndrome (GS) and Crigler-Najjar syndrome type II (CNS), but the complete normalization of bilirubin makes GS more likely. Homozygous P364L variant can be associated with severe neonatal unconjugated hyperbilirubinemia in Chinese infants, but jaundice can completely resolve in a few months, contrary to what happens in Crigler-Najjar syndrome type II.
Systematic trait dissection in oilseed rape provides a comprehensive view, further insight, and exact roadmap for yield determination
Authors: Liang Huabing , Ye Jiang , Wang Ying , Wang Xinfa , Zhou Xue-Rong , Batley Jacqueline , King Graham J. , Guo Liang , Tu Jinxing , Shi Jiaqin , Wang Hanzhong
Published: April 2022

Background

Yield is the most important and complex trait that is influenced by numerous relevant traits with very complicated interrelations. While there are a large number of studies on the phenotypic relationship and genetic basis of yield traits, systematic studies with further dissection focusing on yield are limited. Therefore, there is still lack of a comprehensive and in-depth understanding of the determination of yield.

Results

In this study, yield was systematically dissected at the phenotypic, genetic to molecular levels in oilseed rape (Brassica napusL.). The analysis of correlation, network, and principal component for 21 traits in BnaZN-RIL population showed that yield was determined by a complex trait network with key contributors. The analysis of the constructed high-density single nucleotide polymorphism (SNP) linkage map revealed the concentrated distribution of distorted and heterozygous markers, likely due to selection on genes controlling the growth period and yield heterosis. A total of 134 consensus quantitative trait loci (QTL) were identified for 21 traits, of which all were incorporated into an interconnecting QTL network with dozens of hub-QTL. Four representative hub-QTL were further dissected to the target or candidate genes that governed the causal relationships between the relevant traits.

Conclusions

The highly consistent results at the phenotypic, genetic, and molecular dissecting demonstrated that yield was determined by a multilayer composite network that involved numerous traits and genes showing complex up/down-stream and positive/negative regulation. This provides a systematic view, further insight, and exact roadmap for yield determination, which represents a significant advance toward the understanding and dissection of complex traits.
An unusual clinical manifestation of coronavirus disease 2019 in a woman with twin pregnancy: a case report
Authors: Eslamian Laleh , Ghalandarpoor-Attar Seyedeh Noushin , Shabani Azadeh , Ghalandarpoor-Attar Seyedeh Mojgan
Published: April 2022

Background

Although coronavirus disease 2019 affects mainly the respiratory system, as time passes and our understanding of the disease improves, many nonrespiratory clinical manifestations such as thromboembolic events have been shown to occur with or without respiratory tract involvement.

Case presentation

We present the case of a 21-year-old gravid 3, live 1, abortion 1 Iranian woman pregnant with twins in her early first trimester. Her initial chief complaint was headache that gradually increased in intensity. Eventually, cerebral vein thrombosis was confirmed. Although the patient first manifested with neurological involvement, she developed upper respiratory symptoms soon after, and then nasopharyngeal polymerase chain reaction test returned positive.

Conclusion

Any neurological complaints in pregnant women during the current coronavirus disease 2019 pandemic should raise suspicion for the presence of significant cerebral thrombotic or ischemic events, even if the patient has no complaint of respiratory tract involvement and/or when an initial nasopharyngeal polymerase chain reaction test is negative.
Relationships of growth increments of internal shells and age through entire life cycles in three cultured neritic cephalopods (Mollusca: Cephalopoda) with re-evaluation as application for age determination
Authors: Nabhitabhata Jaruwat , Suriyawarakul Jiraporn , Yamrungrueng Anyanee , Tongtherm Kittichai , Tuanapaya Surangkana
Published: April 2022

Relationships between growth increments of internal shell and age was studied in three neritic decapod cephalopods cultured in laboratory through their entire life cycles. The studied cephalopods were the nekticSepioteuthis lessonianad’Orbigny, 1826,Sepia pharaonisEhrenberg, 1831 andSepiella inermisVan Hasselt, 1835. Most of the relationship models are in cubic parabolic, except when numbers of increments were estimated from age inS. pharaonis. Differences of numbers of increments from the real age were higher in the pelagicS. lessonianawhen compared to the benthic sepiids.The differences were higher in juvenile stages (< 60 days after hatching) than adult stages (> 60 days) in the three species. The increment rate is close to the “one day one increment” assumption. The differences of numbers of increments from the ages and the rate of increment apposition revealed the transition point of the life cycle from 60 days of age, corresponding to the sexual maturity or adult stages. Numbers of increments with higher accuracy are reevaluated to be reliable for age determination at least for the neritic species in the tropical zone, where environmental conditions are more stable, regarding the life styles and stages in life cycles of each species.
Blow-up time estimate for porous-medium problems with gradient terms under Robin boundary conditions
Authors: Shen Xuhui
Published: April 2022

This paper deals with the blow-up phenomena connected to the following porous-medium problem with gradient terms under Robin boundary conditions: $$ \textstyle\begin{cases} u_{t}=\Delta u^{m}+k_{1}u^{p}-k_{2} \vert \nabla u \vert ^{q} & \text{in } \Omega\times(0,t^{*}), \\ \frac{\partial u}{\partial\nu}+\gamma u=0 &\text{on } \partial\Omega\times(0,t^{*}), \\ u(x,0)=u_{0}(x)\geq0 &\text{in } \overline{\Omega}, \end{cases} $$

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. By making use of the Sobolev inequality and the differential inequality technique, we obtain a lower bound for the blow-up time of the solution. In addition, an example is given as an application of the abstract results obtained in this paper. Our results can be regarded as an answer to the open question raised by Li et al. in (Z. Angew. Math. Phys. 70:1–18, 2019).
The role of m6A methylation in osteosarcoma biological processes and its potential clinical value
Authors: Wu Yanjiao , Wang Zhiyun , Shen Jianlin , Yan Wei , Xiang Shurong , Liu Huan , Huang Wenhua
Published: April 2022

Osteosarcoma (OS) is the most common primary malignant bone tumor in children and young adults and has a poor prognosis. Recent developments in the field of high-throughput sequencing technology, particularly in methylated RNA immunoprecipitation sequencing (MeRIP-seq), have led to renewed interest in RNA methylation. Among the various RNA modifications, N6-methyladenosine (m6A) modifications are the most common. Emerging evidence suggests that m6A methylation can affect the complexity of cancer progression by regulating biological functions related to cancer. In this review, we will shed light on recent findings regarding the biological function of m6A methylation in OS and discuss future research directions and potential clinical applications of RNA methyltransferases in OS.
Epigenetic and genomic profiling of chordoid meningioma: implications for clinical management
Authors: Daoud Elena V. , Zhu Kelsey , Mickey Bruce , Mohamed Hussein , Wen Mandisa , Delorenzo Michael , Tran Ivy , Serrano Jonathan , Hatanpaa Kimmo J. , Raisanen Jack M. , Snuderl Matija , Cai Chunyu
Published: April 2022

Chordoid meningioma is a morphological variant of meningioma designated as WHO grade 2. However, the recurrence rates varied widely in different case series, and to date, a unifying molecular genetic signature has not been identified. Among 1897 meningiomas resected at our institution, we identified 12 primary chordoid meningiomas from 12 patients. Histologically, all 12 cases had predominant (> 50%) chordoid morphology. Ten were otherwise grade 1, and two were also atypical. We performed DNA global methylation profile, copy number variation analysis, and targeted next-generation sequencing on 11 chordoid meningiomas, and compared to those of 51 non-chordoid, mostly high grade meningiomas. The chordoid meningiomas demonstrated a unique methylation profile in tSNE, UMAP, and hierarchical heatmap clustering analyses of the most differentially methylated CpGs. The most common copy number variation in chordoid meningioma was loss of 1p (7/11, 64%). Three chordoid meningiomas had 2p loss, which was significantly higher than the non-chordoid control cohort (27% vs 7.2%, p = 0.035). 22q loss was only seen in the two cases with additional atypical histological features. Chordoid meningiomas were enriched in mutations in chromatin remodeling genes EP400 (8/11,73%) KMT2C (4/11, 36%) and KMT2D (4/11, 36%), and showed low or absent NF2, TERT, SMO, and AKT1 mutations. Prognosis wise, only one case recurred. This case had atypical histology and high-grade molecular features including truncating NF2 mutation, 1p, 8p, 10, 14, 22q loss, and homozygous deletion of CDKN2A/B. Progression free survival of chordoid, otherwise grade 1 meningioma was comparable to non-chordoid WHO grade 1 meningioma (p = 0.75), and significantly better than chordoid WHO grade 2 meningioma (p = 0.019). Conclusion: the chordoid histology alone may not justify a universal WHO grade 2 designation. Screening for additional atypical histological or molecular genetic features is recommended.
Epidemiology of adult trauma injuries in Malawi: results from a multisite trauma registry
Authors: Chokotho Linda , Croke Kevin , Mohammed Meyhar , Mulwafu Wakisa , Bertfelt Jonna , Karpe Saahil , Milusheva Sveta
Published: April 2022

Background

Large-scale multisite trauma registries with broad geographic coverage in low-income countries are rare. This lack of systematic trauma data impedes effective policy responses.

Methods

All patients presenting with trauma at 10 hospitals in Malawi from September 2018 to March 2020 were enrolled in a prospective registry. Using data from 49,241 cases, we analyze prevalence, causes, and distribution of trauma in adult patients, and timeliness of transport to health facilities and treatment.

Results

Falls were the most common mechanism of injury overall, but road traffic crashes (RTCs) were the most common mechanism of serious injury, accounting for (48%) of trauma admissions. This pattern was consistent across all central and district hospitals, with only one hospital recording < 40% of admissions due to RTCs. 49% of RTC-linked trauma patients were not in motorized vehicles at the time of the crash. 84% of passengers in cars/trucks/buses and 48% of drivers of cars/trucks/buses from RTCs did not wear seatbelts, and 52% of motorcycle riders (driver and passenger) did not wear helmets. For all serious trauma cases (defined as requiring hospital admission), median time to hospital arrival was 5 h 20 min (IQR 1 h 20 min, 24 h). For serious trauma cases that presented on the same day that trauma occurred, median time to hospital arrival was 2 h (IQR 1 h, 11 h). Significant predictors of hospital admission include being involved in an RTC, age > 55, Glasgow Coma Score < 12, and presentation at hospital on a weekend.

Conclusions

RTCs make up almost half of hospitalized trauma cases in this setting, are equally common in referral and district hospitals, and are an important predictor of injury severity. Pedestrians and cyclists are just as affected as those in vehicles. Many of those injured in vehicles do not take adequate safety precautions. Most trauma patients, including those with serious injuries, do not receive prompt medical attention. Greater attention to safety for both motorized and especially non-motorized road users, and more timely, higher quality emergency medical services, are important policy priorities for Malawi and other developing countries with high burdens of RTC trauma.
Type IIIb endoleak due to stent suture line fabric breakage in the Endurant stent graft: a case report
Authors: Takahashi Satoshi , Nishibe Toshiya , Kano Masaki , Akiyama Shinobu , Iwahashi Toru , Ogino Hitoshi
Published: April 2022

Background

Early type IIIb endoleak is a very rare complication of endovascular aneurysm repair (EVAR).

Case presentation

An 87-year-old man was diagnosed with infrarenal abdominal aortic aneurysm. The patient underwent EVAR using the Endurant stent graft. Postoperative color duplex ultrasound revealed a regular row of pulsatile blood flow from the main body and left leg. The blood flow appeared to be bleeding from the stent suture lines because of its regularity. Type IIIb endoleak was suspected due to stent suture line fabric breakage but was not treated surgically or endovascularly because of the patient’s poor general health status. Six months later, contrast-enhanced CT demonstrated a deformation and enlargement of the aneurysm sac as well as an oozing of the contrast medium on the main body and left limb. Thereafter, he died of a subdural hematoma due to a fall. Autopsy showed no visible abnormal erosion or holes on the graft fabric, suggesting that suture line fabric breakage may have existed during the manufacturing process.

Conclusions

Although rare, type IIIb endoleaks can occur even in the perioperative period after EVAR. Early type IIIb endoleaks may not resolve spontaneously and should be treated promptly, if possible.