bluuebunny/crossref_metadata_2025 huggingface dataset:
Poor ovarian response and the possible role of natural and modified natural cycles
Authors: Di Guardo Federica , Blockeel Christophe , De Vos Michel , Palumbo Marco , Christoforidis Nikolaos , Tournaye Herman , Drakopoulos Panagiotis
Published: January 2022

About 20% of women undergoing in vitro fertilization struggle with poor ovarian response, indicating a poor prognosis related to low response following ovarian stimulation. Indeed, poor ovarian response, that is associated with both high cancelation rates and low live birth rates, still represents one of the most important therapeutic challenges in in vitro fertilization. In this context, natural cycle/modified natural cycle– in vitro fertilization, as a ‘milder’ approach, could be a reasonable alternative to high-dose/conventional ovarian stimulation in poor ovarian responders, with the aim to retrieve a single oocyte with better characteristics that may result in a single top-quality embryo, transferred to a more receptive endometrium. Moreover, modified natural cycle– in vitro fertilization may be cost-effective because of the reduced gonadotropin consumption. Several studies have been published during the last 20 years reporting conflicting results regarding the use of natural cycle/modified natural cycle– in vitro fertilization in women with poor ovarian response; however, while most of the studies concluded that mild stimulation regimens, including natural cycle/modified natural cycle– in vitro fertilization, have low, but acceptable success rates in this difficult group of patients, others did not replicate these findings. The aim of this narrative review is to appraise the current evidence regarding the use of natural cycle/modified natural cycle– in vitro fertilization in poor ovarian responders.
How well can we predict earthquake site response so far? Site-specific approaches
Authors: Zhu Chuanbin , Cotton Fabrice , Kawase Hiroshi , Haendel Annabel , Pilz Marco , Nakano Kenichi
Published: January 2022

Earthquake site responses or site effects are the modifications of surface geology to seismic waves. How well can we predict the site effects (average over many earthquakes) at individual sites so far? To address this question, we tested and compared the effectiveness of different estimation techniques in predicting the outcrop Fourier site responses separated using the general inversion technique (GIT) from recordings. Techniques being evaluated are (a) the empirical correction to the horizontal-to-vertical spectral ratio of earthquakes (c-HVSR), (b) one-dimensional ground response analysis (GRA), and (c) the square-root-impedance (SRI) method (also called the quarter-wavelength approach). Our results show that c-HVSR can capture significantly more site-specific features in site responses than both GRA and SRI in the aggregate, especially at relatively high frequencies. c-HVSR achieves a “good match” in spectral shape at ∼80%–90% of 145 testing sites, whereas GRA and SRI fail at most sites. GRA and SRI results have a high level of parametric and/or modeling errors which can be constrained, to some extent, by collecting on-site recordings.
Altered effective connectivity in migraine patients during emotional stimuli: a multi-frequency magnetoencephalography study
Authors: Ren Jing , Yao Qun , Tian Minjie , Li Feng , Chen Yueqiu , Chen Qiqi , Xiang Jing , Shi Jingping
Published: January 2022

Background

Migraine is a common and disabling primary headache, which is associated with a wide range of psychiatric comorbidities. However, the mechanisms of emotion processing in migraine are not fully understood yet. The present study aimed to investigate the neural network during neutral, positive, and negative emotional stimuli in the migraine patients.

Methods

A total of 24 migraine patients and 24 age- and sex-matching healthy controls were enrolled in this study. Neuromagnetic brain activity was recorded using a whole-head magnetoencephalography (MEG) system upon exposure to human facial expression stimuli. MEG data were analyzed in multi-frequency ranges from 1 to 100 Hz.

Results

The migraine patients exhibited a significant enhancement in the effective connectivity from the prefrontal lobe to the temporal cortex during the negative emotional stimuli in the gamma frequency (30–90 Hz). Graph theory analysis revealed that the migraine patients had an increased degree and clustering coefficient of connectivity in the delta frequency range (1–4 Hz) upon exposure to positive emotional stimuli and an increased degree of connectivity in the delta frequency range (1–4 Hz) upon exposure to negative emotional stimuli. Clinical correlation analysis showed that the history, attack frequency, duration, and neuropsychological scales of the migraine patients had a negative correlation with the network parameters in certain frequency ranges.

Conclusions

The results suggested that the individuals with migraine showed deviant effective connectivity in viewing the human facial expressions in multi-frequencies. The prefrontal-temporal pathway might be related to the altered negative emotional modulation in migraine. These findings suggested that migraine might be characterized by more universal altered cerebral processing of negative stimuli. Since the significant result in this study was frequency-specific, more independent replicative studies are needed to confirm these results, and to elucidate the neurocircuitry underlying the association between migraine and emotional conditions.
Alterations in pain processing circuitries in episodic migraine
Authors: Mungoven Tiffani J. , Marciszewski Kasia K. , Macefield Vaughan G. , Macey Paul M. , Henderson Luke A. , Meylakh Noemi
Published: January 2022

Background

The precise underlying mechanisms of migraine remain unknown. Although we have previously shown acute orofacial pain evoked changes within the brainstem of individuals with migraine, we do not know if these brainstem alterations are driven by changes in higher cortical regions. The aim of this investigation is to extend our previous investigation to determine if higher brain centers display altered activation patterns and connectivity in migraineurs during acute orofacial noxious stimuli.

Methods

Functional magnetic resonance imaging was performed in 29 healthy controls and 25 migraineurs during the interictal and immediately (within 24-h) prior to migraine phases. We assessed activation of higher cortical areas during noxious orofacial heat stimulation using a thermode device and assessed whole scan and pain-related changes in connectivity.

Results

Despite similar overall pain intensity ratings between all three groups, migraineurs in the group immediately prior to migraine displayed greater activation of the ipsilateral nucleus accumbens, the contralateral ventrolateral prefrontal cortex and two clusters in the dorsolateral prefrontal cortex (dlPFC). Reduced whole scan dlPFC [Z + 44] connectivity with cortical/subcortical and brainstem regions involved in pain modulation such as the putamen and primary motor cortex was demonstrated in migraineurs. Pain-related changes in connectivity of the dlPFC and the hypothalamus immediately prior to migraine was also found to be reduced with brainstem pain modulatory areas such as the rostral ventromedial medulla and dorsolateral pons.

Conclusions

These data reveal that the modulation of brainstem pain modulatory areas by higher cortical regions may be aberrant during pain and these alterations in this descending pain modulatory pathway manifests exclusively prior to the development of a migraine attack.
Highly Damage-Resistant Thin Film Saturable Absorber Based on Mechanically Functionalized SWCNTs
Authors: Kang Daewon , Sarkar Sourav , Kim Kyung-Soo , Kim Soohyun
Published: January 2022

Thin-film saturable absorbers (SAs) are extensively used in mode-locked fiber laser due to the robust and simple application methods that arise because SAs are alignment-free and self-standing. Single-walled carbon nanotubes (SWCNTs) are the most suitable low dimensional material uesd for SAs because of their high nonlinearity and the wavelength control of absorption based on tube diameters. The most challenging problem with the use of CNT-based thin film SAs is thermal damage caused during high power laser operation, which mainly occurs due to aggregation of CNTs. We have demonstrated improved thermal damage resistance and enhanced durability of a film-type SA based on functionalization of SWCNTs, which were subjected to a mechanical functionalization procedure to induce covalent structural modifications on the SWCNT surface. Increased intertube distance was shown by X-ray diffraction, and partial functionalization was shown by Raman spectroscopy. This physical change had a profound effect on integration with the host polymer and resolved aggregation problems. A free-standing SA was fabricated by the drop casting method, and improved uniformity was shown by scanning electron microscopy. The SA was analyzed using various structural and thermal evaluation techniques (Raman spectroscopy, thermogravimetric analysis, etc.). Damage tests at different optical powers were also performed. To the best of our knowledge, a comprehensive analysis of a film-type SA is reported here for the first time. The partially functionalized SWCNT (fSWCNT) SA shows significant structural integrity after intense damage tests and a modulation depth of 25.3%. In passively mode-locked laser operation, a pulse width of 152 fs is obtained with a repetition rate of 77.8 MHz and a signal-to-noise ratio of  75 dB. Stable operation of the femtosecond fiber laser over 200 h verifies the enhanced durability of the fSWCNT SA.
Role of Strain-Induced Microscale Compositional Pulling on Optical Properties of High Al Content AlGaN Quantum Wells for Deep-Ultraviolet LED
Authors: Lu Shiqiang , Luo Zongyan , Li Jinchai , Lin Wei , Chen Hangyang , Liu Dayi , Cai Duanjun , Huang Kai , Gao Na , Zhou Yinghui , Li Shuping , Kang Junyong
Published: January 2022

A systematic study was carried out for strain-induced microscale compositional pulling effect on the structural and optical properties of high Al content AlGaN multiple quantum wells (MQWs). Investigations reveal that a large tensile strain is introduced during the epitaxial growth of AlGaN MQWs, due to the grain boundary formation, coalescence and growth. The presence of this tensile strain results in the microscale inhomogeneous compositional pulling and Ga segregation, which is further confirmed by the lower formation enthalpy of Ga atom than Al atom on AlGaN slab using first principle simulations. The strain-induced microscale compositional pulling leads to an asymmetrical feature of emission spectra and local variation in emission energy of AlGaN MQWs. Because of a stronger three-dimensional carrier localization, the area of Ga segregation shows a higher emission efficiency compared with the intrinsic area of MQWs, which is benefit for fabricating efficient AlGaN-based deep-ultraviolet light-emitting diode.
1.3 kV Vertical GaN-Based Trench MOSFETs on 4-Inch Free Standing GaN Wafer
Authors: He Wei , Li Jian , Liao Zeliang , Lin Feng , Wu Junye , Wang Bing , Wang Maojun , Liu Nan , Chiu Hsien-Chin , Kuo Hao-Chung , Lin Xinnan , Li Jingbo , Liu Xinke
Published: January 2022

In this work, a vertical gallium nitride (GaN)-based trench MOSFET on 4-inch free-standing GaN substrate is presented with threshold voltage of 3.15 V, specific on-resistance of 1.93 mΩ·cm2, breakdown voltage of 1306 V, and figure of merit of 0.88 GW/cm2. High-quality and stable MOS interface is obtained through two-step process, including simple acid cleaning and a following (NH4)2S passivation. Based on the calibration with experiment, the simulation results of physical model are consistent well with the experiment data in transfer, output, and breakdown characteristic curves, which demonstrate the validity of the simulation data obtained by Silvaco technology computer aided design (Silvaco TCAD). The mechanisms of on-state and breakdown are thoroughly studied using Silvaco TCAD physical model. The device parameters, including n−-GaN drift layer, p-GaN channel layer and gate dielectric layer, are systematically designed for optimization. This comprehensive analysis and optimization on the vertical GaN-based trench MOSFETs provide significant guide for vertical GaN-based high power applications.
Aristotle: stratified causal discovery for omics data
Authors: Mansouri Mehrdad , Khakabimamaghani Sahand , Chindelevitch Leonid , Ester Martin
Published: January 2022

Background

There has been a simultaneous increase in demand and accessibility across genomics, transcriptomics, proteomics and metabolomics data, known as omics data. This has encouraged widespread application of omics data in life sciences, from personalized medicine to the discovery of underlying pathophysiology of diseases. Causal analysis of omics data may provide important insight into the underlying biological mechanisms. Existing causal analysis methods yield promising results when identifying potential general causes of an observed outcome based on omics data. However, they may fail to discover the causes specific to a particular stratum of individuals and missing from others.

Methods

To fill this gap, we introduce the problem of stratified causal discovery and propose a method, Aristotle, for solving it. Aristotle addresses the two challenges intrinsic to omics data: high dimensionality and hidden stratification. It employs existing biological knowledge and a state-of-the-art patient stratification method to tackle the above challenges and applies a quasi-experimental design method to each stratum to find stratum-specific potential causes.

Results

Evaluation based on synthetic data shows better performance for Aristotle in discovering true causes under different conditions compared to existing causal discovery methods. Experiments on a real dataset on Anthracycline Cardiotoxicity indicate that Aristotle’s predictions are consistent with the existing literature. Moreover, Aristotle makes additional predictions that suggest further investigations.
Assigning protein function from domain-function associations using DomFun
Authors: Rojano Elena , Jabato Fernando M. , Perkins James R. , Córdoba-Caballero José , García-Criado Federico , Sillitoe Ian , Orengo Christine , Ranea Juan A. G. , Seoane-Zonjic Pedro
Published: January 2022

Background

Protein function prediction remains a key challenge. Domain composition affects protein function. Here we present DomFun, a Ruby gem that uses associations between protein domains and functions, calculated using multiple indices based on tripartite network analysis. These domain-function associations are combined at the protein level, to generate protein-function predictions.

Results

We analysed 16 tripartite networks connecting homologous superfamily and FunFam domains from CATH-Gene3D with functional annotations from the three Gene Ontology (GO) sub-ontologies, KEGG, and Reactome. We validated the results using the CAFA 3 benchmark platform for GO annotation, finding that out of the multiple association metrics and domain datasets tested, Simpson index for FunFam domain-function associations combined with Stouffer’s method leads to the best performance in almost all scenarios. We also found that using FunFams led to better performance than superfamilies, and better results were found for GO molecular function compared to GO biological process terms. DomFun performed as well as the highest-performing method in certain CAFA 3 evaluation procedures in terms of $$F_{max}$$

F

max

and $$S_{min}$$

S

min

We also implemented our own benchmark procedure, Pathway Prediction Performance (PPP), which can be used to validate function prediction for additional annotations sources, such as KEGG and Reactome. Using PPP, we found similar results to those found with CAFA 3 for GO, moreover we found good performance for the other annotation sources. As with CAFA 3, Simpson index with Stouffer’s method led to the top performance in almost all scenarios.

Conclusions

DomFun shows competitive performance with other methods evaluated in CAFA 3 when predicting proteins function with GO, although results vary depending on the evaluation procedure. Through our own benchmark procedure, PPP, we have shown it can also make accurate predictions for KEGG and Reactome. It performs best when using FunFams, combining Simpson index derived domain-function associations using Stouffer’s method. The tool has been implemented so that it can be easily adapted to incorporate other protein features, such as domain data from other sources, amino acid k-mers and motifs. The DomFun Ruby gem is available from https://rubygems.org/gems/DomFun. Code maintained at https://github.com/ElenaRojano/DomFun. Validation procedure scripts can be found at https://github.com/ElenaRojano/DomFun_project.
Influence of mechanical and TGF-β3 stimulation on the tenogenic differentiation of tonsil-derived mesenchymal stem cells
Authors: Wee Jaeyeon , Kim Hyang , Shin Sang-Jin , Lee Taeyong , Lee Seung Yeol
Published: January 2022

Background

Organogenesis from tonsil-derived mesenchymal cells (TMSCs) has been reported, wherein tenogenic markers are expressed depending on the chemical stimulation during tenogenesis. However, there are insufficient studies on the mechanical strain stimulation for tenogenic cell differentiation of TMSCs, although these cells possess advantages as a cell source for generating tendinous tissue. The purpose of this study was to investigate the effects of mechanical strain and transforming growth factor-beta 3 (TGF-β3) on the tenogenic differentiation of TMSCs and evaluate the expression of tendon-related genes and extracellular matrix (ECM) components, such as collagen.

Results

mRNA expression of tenogenic genes was significantly higher when the mechanical strain was applied than under static conditions. Moreover, mRNA expression of tenogenic genes was significantly higher with TGF-β3 treatment than without. mRNA expression of osteogenic and chondrogenic genes was not significantly different among different mechanical strain intensities. In cells without TGF-β3 treatment, double-stranded DNA concentration decreased, while the amount of normalized collagen increased as the intensity of mechanical strain increased.

Conclusions

Mechanical strain and TGF-β3 have significant effects on TMSC differentiation into tenocytes. Mechanical strain stimulates the differentiation of TMSCs, particularly into tenocytes, and cell differentiation, rather than proliferation. However, a combination of these two did not have a synergistic effect on differentiation. In other words, mechanical loading did not stimulate the differentiation of TMSCs with TGF-β3 supplementation. The effect of mechanical loading with TGF-β3 treatment on TMSC differentiation can be manipulated according to the differentiation stage of TMSCs. Moreover, TMSCs have the potential to be used for cell banking, and compared to other mesenchymal stem cells, they can be procured from patients via less invasive procedures.
Investigating the genomic alteration improved the clinical outcome of aged patients with lung carcinoma
Authors: Chen Sixian , Fu Aizhen , Lu Yuan , Lu Wei , Chen Yongfeng , Hong Shuiqiang , Zhou Suli , Xiang Tianmin , Zhang Zhenzhen , Cai Yongguang
Published: January 2022

Background

Lung carcinoma is a common geriatric disease. The development of genotype-targeted therapies greatly improved the management of lung carcinoma. However, the treatment for old patients can be more complex than that for young individuals.

Results

To investigate the benefits of genetic detection for older patients with lung carcinoma, we explored the genomic profiling of 258 patients with more than 55 years using a targeted next generation sequencing, and some of these patients were treated with targeted therapies based on the results of genomic detection. KRAS codon 61 mutations were found in 15.2% KRAS-mutated patients, which tend to be co-existing with other classical activating mutations other than codons 12/13. Acquired EGFR C797S mutations were identified in 2 cases and ERBB2 amplification was identified in 1 case. All these 3 cases developed resistance to EGFR tyrosine kinase inhibitors and showed expected results of their followed therapies. The median progression-free survival and median overall survival of patients treated with molecular targeted therapies were better than those of patients treated with chemoradiotherapy alone.

Conclusions

Our findings revealed the specific genomic profiles of patients older than 55 years with lung carcinoma and suggested that these old patients have been benefit from the genetic detection, which helped identify druggable mutations and distinguish resistance mechanisms.
Impact of Helicobacter pylori infection on fluid duodenal microbial community structure and microbial metabolic pathways
Authors: Maeda Tadashi , Zai Hiroaki , Fukui Yuto , Kato Yoshifumi , Kumade Eri , Watanabe Toshiyasu , Furusyo Norihiro , Nakajima Hitoshi , Arai Kazuho , Ishii Yoshikazu , Tateda Kazuhiro , Urita Yoshihisa
Published: January 2022

Background

The bioactivities of commensal duodenal microbiota greatly influence the biofunction of hosts. We investigated the role of Helicobacter pylori infection in extra-gastroduodenal diseases by determining the impact of H. pylori infection on the duodenal microbiota. We sequenced 16 S rRNA genes in samples aspirated from the descending duodenum of 47 (male, 20; female, 27) individuals who were screened for gastric cancer. Samples were analysed using 16 S rRNA gene amplicon sequencing, and the LEFSe and Kyoto Encyclopaedia of Genes and Genomes methods were used to determine whether the duodenal microflora and microbial biofunctions were affected using H. pylori infection.

Results

Thirteen and 34 participants tested positive and negative for H. pylori, respectively. We identified 1,404 bacterial operational taxonomic units from 23 phyla and 253 genera. H. pylori infection changed the relative mean abundance of three phyla (Proteobacteria, Actinobacteria, and TM7) and ten genera (Neisseria, Rothia, TM7-3, Leptotrichia, Lachnospiraceae, Megasphaera, F16, Moryella, Filifactor, and Paludibacter). Microbiota features were significantly influenced in H. pylori-positive participants by 12 taxa mostly classified as Gammaproteobacteria. Microbial functional annotation revealed that H. pylori significantly affected 12 microbial metabolic pathways.

Conclusions

H. pylori disrupted normal bacterial communities in the duodenum and changed the biofunctions of commensal microbiota primarily by upregulating specific metabolic pathways. Such upregulation may be involved in the onset of diseases associated with H. pylori infection.
Strategies for discontinuation of proton pump inhibitors (PPIs) in patients with long-term PPI administration: a randomized controlled trial
Authors: Hojo Mariko , Asaoka Daisuke , Shimada Yuji , Nojiri Shuko , Nagahara Akihito
Published: January 2022

Background

Proton pump inhibitors (PPIs), including potassium ion-competitive acid blocker, are widely used worldwide and are often used for long periods of time. However, in recent years, potential side effects associated with long-term PPI use have been reported. Many patients take PPI for a long period of time, even though it is unnecessary, and it is necessary to discontinue PPI administration in such patients. However, sudden discontinuation may cause symptoms to recur and discontinuation may be unsuccessful. A strategy for safe and secure PPI discontinuation has not yet been established. The purpose of this study is to determine whether PPI can be safely discontinued by tapering the PPI dose or by abrupt discontinuation of PPI, and to establish a strategy for safe and secure PPI discontinuation.

Methods

The evaluation will be conducted as a multicenter, randomized, parallel-group clinical trial with five assessment points at the start of the study and 2 weeks, 4 weeks, 6 months, and 12 months after the start of the study. One intervention group is the group in which PPI administration is abruptly discontinued (Group A), and the second group is the group in which the PPI dose is gradually tapered and then PPI administration is discontinued (Group B). The primary outcome and secondary outcome are the proportion of patients who successfully discontinued the PPI at 6 months and at 12 months after the start of the study in groups A and B, respectively.

Discussion

We predict that the proportion of patients who successfully discontinue PPI will be higher in the group in which PPI administration was gradually tapered than in the group in which PPI administration was abruptly discontinued. On the other hand, we expect that many participants will succeed in discontinuing PPI regardless of the discontinuation strategy due to the explanation that discontinuation is necessary.

Trial registration

Japan Registry of Clinical Trials, jRCT1031180383. Registered 20 March 2019, https://jrct.niph.go.jp/latest-detail/jRCT1031180383.
A patient with granulomatous amoebic encephalitis caused by Balamuthia mandrillaris survived with two excisions and medication
Authors: Peng Limei , Zhou Quan , Wu Yu , Cao Xiaoli , Lv Zili , Su Minghua , Yu Yachun , Huang Wen
Published: January 2022

Background

Granulomatous amoebic encephalitis (GAE) is a rare central nervous system infection caused by the Balamuthia mandrillaris or Acanthamoeba species. Diagnosis is challenging because of the non-specific clinical presentation, cerebrospinal fluid analysis, and radiological features. There is no effective treatment for GAE to date.

Case presentation

A 54-year-old male was admitted to hospital after experiencing acute onset of numbness and weakness on his left limb. Due to the initial consideration of intracranial tumor, surgical removal of the right parietal lesion was performed. However, the patient had a headache accompanied by diplopia, difficulty walking and a new lesion was found in the left occipital-parietal lobe two weeks after the first operation. High-throughput next-generation sequencing (NGS) detected the presence of high copy reads of the B. mandrillaris genome sequence in the patient’s blood, cerebral spinal fluid (CSF), and brain tissue. Pathological investigation of the brain tissue showed granulomatous changes and amoebic trophozoite scattered around blood vessels under high magnification. The patient was re-operated due to developing progressive confusion caused by subfalcine herniation of the left cerebral hemisphere. The lesions of the right parietal lobe were obviously decreasing in size after the first surgery, and the lesions of the left occipital lobe and the sunfalcine herniation didn’t ameliorate two months after the second surgery. The patient was transferred to local hospital for continuous treatment with sulfamethoxazole and azithromycin. After five months of the second surgery, the patient showed good recovery with mild headache.

Conclusions

This is the first report of a patient with B. mandrillaris encephalitis initially confirmed by NGS and have experienced two excisions, responding favorably to the combination of surgeries and medications. Early surgical resection of intracranial lesions combined with drug treatment may offer the chance of a cure.
Volumetric accuracy of different imaging modalities in acute intracerebral hemorrhage
Authors: Schlunk Frieder , Kuthe Johannes , Harmel Peter , Audebert Heinrich , Hanning Uta , Bohner Georg , Scheel Michael , Kleine Justus , Nawabi Jawed
Published: January 2022

Background

Follow-up imaging in intracerebral hemorrhage is not standardized and radiologists rely on different imaging modalities to determine hematoma growth. This study assesses the volumetric accuracy of different imaging modalities (MRI, CT angiography, postcontrast CT) to measure hematoma size.

Methods

28 patients with acute spontaneous intracerebral hemorrhage referred to a tertiary stroke center were retrospectively included between 2018 and 2019. Inclusion criteria were (1) spontaneous intracerebral hemorrhage (supra- or infratentorial), (2) noncontrast CT imaging performed on admission, (3) follow-up imaging (CT angiography, postcontrast CT, MRI), and (4) absence of hematoma expansion confirmed by a third cranial image within 6 days. Two independent raters manually measured hematoma volume by drawing a region of interest on axial slices of admission noncontrast CT scans as well as on follow-up imaging (CT angiography, postcontrast CT, MRI) using a semi-automated segmentation tool (Visage image viewer; version 7.1.10). Results were compared using Bland–Altman plots.

Results

Mean admission hematoma volume was 18.79 ± 19.86 cc. All interrater and intrarater intraclass correlation coefficients were excellent (1; IQR 0.98–1.00). In comparison to hematoma volume on admission noncontrast CT volumetric measurements were most accurate in patients who received postcontrast CT (bias of − 2.47%, SD 4.67: n = 10), while CT angiography often underestimated hemorrhage volumes (bias of 31.91%, SD 45.54; n = 20). In MRI sequences intracerebral hemorrhage volumes were overestimated in T2* (bias of − 64.37%, SD 21.65; n = 10). FLAIR (bias of 6.05%, SD 35.45; n = 13) and DWI (bias of-14.6%, SD 31.93; n = 12) over- and underestimated hemorrhagic volumes.

Conclusions

Volumetric measurements were most accurate in postcontrast CT while CT angiography and MRI sequences often substantially over- or underestimated hemorrhage volumes.
Vitamin D receptor gene polymorphism predicts left ventricular hypertrophy in maintenance hemodialysis
Authors: Liu Bingman , Yang Qingqing , Zhao Liangyu , Shui Hua , Si Xiaoyun
Published: January 2022

Background

To verify that the single nucleotide polymorphisms (SNP) of vitamin D receptor (VDR) may lead to genetic susceptibility to left ventricular hypertrophy (LVH), the present study was designed to study four SNPs of VDR associated with LVH in maintenance hemodialysis (MHD) patients of Han nationality.

Methods

120 MHD patients were recruited at Department of Nephrology, Zhongnan Hospital of Wuhan University to analyze the expression of genotype, allele and haplotype of Fok I, Bsm I, Apa I and Taq I in blood samples, and to explore their correlation with blood biochemical indexes and ventricular remodeling.

Results

The results showed that the risks of CVD included gender, dialysis time, heart rate, SBP, glycated hemoglobin, calcium, iPTH and CRP concentration. Moreover, LAD, LVDd, LVDs, IVST and LVMI in B allele of Bsm I increased significantly. Fok I, Apa I and Taq I polymorphisms have no significant difference between MHD with LVH and without LVH. Further study showed that VDR expression level decreased significantly in MHD patients with LVH, and the B allele was positively correlated with VDR Expression.

Conclusion

VDR Bsm I gene polymorphism may predict cardiovascular disease risk of MDH patients, and provided theoretical basis for early detection and prevention of cardiovascular complications.
Ranking patients on the kidney transplant waiting list based on fuzzy inference system
Authors: Taherkhani Nasrin , Sepehri Mohammad Mehdi , Khasha Roghaye , Shafaghi Shadi
Published: January 2022

Background

Kidney transplantation is the best treatment for people with End-Stage Renal Disease (ESRD). Kidney allocation is the most important challenge in kidney transplantation process. In this study, a Fuzzy Inference System (FIS) was developed to rank the patients based on kidney allocation factors. The main objective was to develop an expert system, which would mimic the expert intuitive thinking and decision-making process in the face of the complexity of kidney allocation.

Methods

In the first stage, kidney allocation factors were identified. Next, Intuitionistic Fuzzy Analytic Hierarchy Process (IF-AHP) has been used to weigh them. The purpose of this stage is to develop a point scoring system for kidney allocation. Fuzzy if-then rules were extracted from the United Network for Organ Sharing (UNOS) dataset by constructing the decision tree, in the second stage. Then, a Multi-Input Single-Output (MISO) Mamdani fuzzy inference system was developed for ranking the patients on the waiting list.

Results

To evaluate the performance of the developed Fuzzy Inference System for Kidney Allocation (FISKA), it was compared with a point scoring system and a filtering system as two common approaches for kidney allocation. The results indicated that FISKA is more acceptable to the experts than the mentioned common methods.

Conclusion

Given the scarcity of donated kidneys and the importance of optimal use of existing kidneys, FISKA can be very useful for improving kidney allocation systems. Countries that decide to change or improve the kidney allocation system can simply use the proposed model. Furthermore, this model is applicable to other organs, including lung, liver, and heart.
A comparison of technicques to disimpact the fetal head on a second stage caesearean simulator
Authors: Martin Anastasia , Nzelu Diane , Briley Annette , Tydeman Graham , Shennan Andrew
Published: January 2022

Background

The rate of second stage caesarean section (CS) is rising with associated increases in maternal and neonatal morbidity, which may be related to impaction of the fetal head in the maternal pelvis. In the last 10 years, two devices have been developed to aid disimpaction and reduce these risks: the Fetal Pillow (FP) and the Tydeman Tube (TT). The aim of this study was to determine the distance of upward fetal head elevation achieved on a simulator for second stage CS using these two devices, compared to the established technique of per vaginum digital disimpaction by an assistant.

Methods

We measured elevation of the fetal head achieved with the two devices (TT and FP), compared to digital elevation, on a second stage Caesearean simulator (Desperate Debra ™ set at three levels of severity. Elevation was measured by both a single operator experienced with use of the TT and FP and also multiple assistants with no previous experience of using either device. All measurements were blinded

Results

The trained user achieved greater elevation of the fetal head at both moderate and high levels of severity with the TT (moderate: 30mm vs 12.5mm p<0.001; most severe: 25mm vs 10mm p<0.001) compared to digital elevation. The FP provided comparable elevation to digital at both settings (moderate: 10 vs 12.5mm p=0.149; severe 10 vs 10mm p=0.44).

With untrained users, elevation was also significantly greater with the TT compared to digital elevation (20mm vs 10mm p<0.01). However digital disimpaction was significantly greater than the FP (10mm vs 0mm p<0.0001).

Conclusion

On a simulator, with trained operators, the TT provided greater fetal head elevation than digital elevation and the FP. The FP achieved similar elevation to the digital technique, especially when the user was trained in the procedure.
Mindful Kangaroo Care: mindfulness intervention for mothers during skin-to-skin care: a randomized control pilot study
Authors: Landry Marc-Antoine , Kumaran Kumar , Tyebkhan Juzer M. , Levesque Valerie , Spinella Marcello
Published: January 2022

Background

Parents of babies admitted to the Newborn Intensive Care Unit (NICU) undergo considerable stress. There is evidence that mindfulness reduces stress in these parents. Kangaroo Care (KC) is practiced in NICUs across the world and is stress-relieving. Whether mindfulness practiced during KC in the NICU reduces parental distress has not yet been studied. The objective was to explore the feasibility and acceptability of teaching and practicing mindfulness during KC for mothers of premature babies. The objective was also to document preliminary outcomes of Mindful Kangaroo Care (MKC) on maternal stress, anxiety, depression, and mindful awareness.

Methods

In this pilot randomized controlled study, mothers of premature babies who were expected to stay in the NICU for at least four weeks were taught two mindfulness exercises to practice during KC and compared to mothers who received standard care with no mindfulness teaching. Mothers filled out stress, anxiety, depression and mindful awareness scales at recruitment and after four weeks. Acceptability and feasibility questionnaires were also completed.

Results

Fifteen mothers per group completed the study. The MKC group demonstrated a significant within-group reduction in anxiety (p = 0.003), depression (p = 0.02) and stress (p = 0.002), and a significant increase in both the curiosity (p = 0.008) and decentering (p = 0.01) scores of the Toronto Mindfulness Scale, all of which had medium to large effect sizes. Only the increases in curiosity and decentering were significant between groups. Fourteen mothers found the intervention acceptable, one neutral.

Conclusion

MKC was acceptable, feasible and led to a reduction in stress, anxiety and depression in mothers who practiced mindfulness exercises during KC.
Polygenic risk prediction models for colorectal cancer: a systematic review
Authors: Sassano Michele , Mariani Marco , Quaranta Gianluigi , Pastorino Roberta , Boccia Stefania
Published: January 2022

Background

Risk prediction models incorporating single nucleotide polymorphisms (SNPs) could lead to individualized prevention of colorectal cancer (CRC). However, the added value of incorporating SNPs into models with only traditional risk factors is still not clear. Hence, our primary aim was to summarize literature on risk prediction models including genetic variants for CRC, while our secondary aim was to evaluate the improvement of discriminatory accuracy when adding SNPs to a prediction model with only traditional risk factors.

Methods

We conducted a systematic review on prediction models incorporating multiple SNPs for CRC risk prediction. We tested whether a significant trend in the increase of Area Under Curve (AUC) according to the number of SNPs could be observed, and estimated the correlation between AUC improvement and number of SNPs. We estimated pooled AUC improvement for SNP-enhanced models compared with non-SNP-enhanced models using random effects meta-analysis, and conducted meta-regression to investigate the association of specific factors with AUC improvement.

Results

We included 33 studies, 78.79% using genetic risk scores to combine genetic data. We found no significant trend in AUC improvement according to the number of SNPs (p for trend = 0.774), and no correlation between the number of SNPs and AUC improvement (p = 0.695). Pooled AUC improvement was 0.040 (95% CI: 0.035, 0.045), and the number of cases in the study and the AUC of the starting model were inversely associated with AUC improvement obtained when adding SNPs to a prediction model. In addition, models constructed in Asian individuals achieved better AUC improvement with the incorporation of SNPs compared with those developed among individuals of European ancestry.

Conclusions

Though not conclusive, our results provide insights on factors influencing discriminatory accuracy of SNP-enhanced models. Genetic variants might be useful to inform stratified CRC screening in the future, but further research is needed.
Optimal approaches and criteria to treat-and-extend regimen implementation for Neovascular age-related macular degeneration: experts consensus in Taiwan
Authors: Cheng Cheng-Kuo , Chen Shih-Jen , Chen Jiann-Torng , Chen Lee-Jen , Chen San-Ni , Chen Wen-Lu , Hsu Sheng-Min , Lai Chien-Hsiung , Sheu Shwu-Jiuan , Wu Pei-Chang , Wu Wei-Chi , Wu Wen-Chuan , Yang Chung-May , Yeung Ling , Chen Ta-Ching , Yang Chang-Hao
Published: January 2022

The management of neovascular age-related macular degeneration (nAMD) has taken a major stride forward with the advent of anti-VEGF agents. The treat-and-extend (T&E) approach is a refined management strategy, tailoring to the individual patient’s disease course and treatment outcome. To provide guidance to implementing anti-VEGF T&E regimens for nAMD in resource-limited health care systems, an advisory board was held to discuss and generate expert consensus, based on local and international guidelines, current evidence, as well as local experience and reimbursement policies. In the experts’ opinion, treatment of nAMD should aim to maximize and maintain visual acuity benefits while minimizing treatment burden. Based on current evidence, treatment could be initiated with 3 consecutive monthly injections. After the initial period, treatment interval may be extended by 2 or 4 weeks each time for the qualified patients (i.e. no BCVA loss ≥5 ETDRS letters and dry retina), and a maximum interval of 16 weeks is permitted. For patients meeting the shortening criteria (i.e. any increased fluid with BCVA loss ≥5 ETDRS letters, or presence of new macular hemorrhage or new neovascularization), the treatment interval should be reduced by 2 or 4 weeks each time, with a minimal interval of 4 weeks. Discontinuation of anti-VEGF may be considered for those who have received 2–3 consecutive injections spaced 16 weeks apart and present with stable disease. For these individuals, regular monitoring (e.g. 3–4 months) is recommended and monthly injections should be reinstated upon signs of disease recurrence.
Novel variants in PDE6A and PDE6B genes and its phenotypes in patients with retinitis pigmentosa in Chinese families
Authors: Li Yuyu , Li Ruyi , Dai Hehua , Li Genlin
Published: January 2022

Background

Retinitis pigmentosa (RP) is a genetically heterogeneous disease with 89 causative genes identified to date. However, only approximately 60% of RP cases genetically solved to date, predicating that many novel disease-causing variants are yet to be identified. The purpose of this study is to identify novel variants in PDE6A and PDE6B genes and present its phenotypes in patients with retinitis pigmentosa in Chinese families.

Methods

Five retinitis pigmentosa patients with PDE6A variants and three with PDE6B variants were identified through a hereditary eye disease enrichment panel (HEDEP), all patients’ medical and ophthalmic histories were collected, and ophthalmological examinations were performed, followed by an analysis of the possible causative variants. Sanger sequencing was used to verify the variants.

Results

We identified 20 variants in eight patients: 16 of them were identified in either PDE6A or PDE6B in a compound heterozygous state. Additional four heterozygous variants were identified in the genes ADGRA3, CA4, OPTN, RHO. Two novel genetic changes in PDE6A were identified (c.1246G > A and c.1747 T > A), three novel genetic changes in PDE6B were identified (c.401 T > C, c.2293G > C and c.1610-1612del), out of the novel identified variants one was most probably non-pathogenic (c.2293G > C), all other novel variants are pathogenic. Additional variant was identified in CA4 and RHO, which can cause ADRP (c.243G > A, c.688G > A). In addition, a novel variant in ADGRA3 was identified (c.921-1G > A).

Conclusions

This study reveals novel and known variants in PDE6A and PDE6B genes in Chinese families with autosomal recessive RP, and expands the clinical and genetic findings of photoreceptor-specific enzyme deficiencies.
Effect of adenotonsillectomy on the growth, development, and comprehensive cognitive abilities of children with obstructive sleep apnea: a prospective single-arm study
Authors: Shan Shan , Wang Shuyu , Yang Xue , Liu Fan , Xiu Linying
Published: January 2022

Background

Previous studies did not comprehensively examine the effect of adenotonsillectomy on growth and development, emotional state, quality of life, attention ability, and cognitive dysfunction in children with obstructive sleep apnea (OSA). This study aimed to explore the improvement effects of adenotonsillectomy on the growth, development, quality of life, and attention ability in children with OSA.

Methods

This prospective single-arm study involved children with OSA admitted at The No. 980 Hospital, Joint Logistics Support Force, PLA, China (02/2017–02/2018). The Myklebust Pupil Rating Scale (PRS), Inventory of Subjective Life Quality (ISLQ), Zung Self-rating Anxiety Scale (SAS), Conners Parent Symptom Questionnaire (PSQ), and Continuous Performance Task (CPT) were examined before and at 6 months after adenotonsillectomy.

Results

Forty-nine patients were enrolled. They all completed the 6-month follow-up. The body mass index increased after surgery (from 18.8 ± 4.9 to 19.3 ± 4.3 kg/m2, P = 0.008). The total PRS score increased 6 months after surgery (from 73.8 ± 12.7 to 84.6 ± 10.3, P < 0.001). All aspects of the ISLQ, except anxiety experience and physical emotion, were improved at 6 months after adenotonsillectomy (all P < 0.01). The SAS score also decreased from 20.1 ± 10.0 to 12.8 ± 6.6 (P < 0.001). All six dimensions of the PSQ, as assessed by the legal guardians, decreased after adenotonsillectomy (all P < 0.01). The proportions of children with auditory and/or visual sustained attention abnormalities decreased after surgery.

Conclusions

After adenotonsillectomy, the PRS, ISLQ, and PSQ improved, and anxiety and auditory/visual sustained attention abnormalities decreased, suggesting positive impacts on the growth, development, quality of life, and comprehensive cognitive abilities of children with OSA.
A survey and cause analysis of community resilience in a Chinese city from the perspective of nursing
Authors: Jiang N. , Ma L. H. , Cheng J. X. , Jiang X. L.
Published: January 2022

Background

Community resilience, which fully reflects the ability of communities to resist, absorb, recover or adapt to disasters, has attracted international attention. Nurses are an important force in disaster prevention, relief and postdisaster reconstruction. This study aims to test the current level of community resilience in Dujiangyan city, which was seriously damaged by the Wenchuan earthquake, and analyze the causes.

Methods

Community data from 952 residents, 574 families, 5 health care institutions and 12 communities in Dujiangyan city were collected by using stratified, cluster, map and systematic sampling methods. A new community resilience evaluation system from the perspective of nursing was used to test individual, family, health care and environmental resilience.

Results

In Dujiangyan city, average scores were obtained for community resilience (3.93 ± 0.12), individual resilience (4.07 ± 0.64), family resilience (4.07 ± 0.6), health care resilience (3.84 ± 0.33) and community environment resilience (3.69 ± 0.46).

Conclusions

The urban communities in Dujiangyan city had acceptable resilience, with good family and individual resilience and medium health care and community environment resilience, but environmental resilience had the lowest score. Because conditions and resilience levels varied among the communities, targeted measures should be taken to improve resilience based on population characteristics, management, professional organizations, hardware and software facilities.