bluuebunny/crossref_metadata_2025_split huggingface dataset:
Homozygosity for a novel INHA mutation in two male siblings with hypospadias, primary hypogonadism, and high-normal testicular volume
Authors: Arslan Ates Esra , Eltan Mehmet , Sahin Bahadir , Gurpinar Tosun Busra , Seven Menevse Tuba , Geckinli Bilgen Bilge , Greenfield Andy , Turan Serap , Bereket Abdullah , Guran Tulay 
Published: March 2022

Background
The human INHA gene encodes the inhibin subunit alpha protein, which is common to both inhibin A and B. The functional importance of inhibins in male sex development, sexual function, and reproduction remain largely unknown.

Objective
We report for the first time two male siblings with homozygous INHAmutations.

Methods
The medical files were examined for clinical, biochemical, and imaging data. Genetic analysis was performed using next-generation and Sanger sequencing methods.

Results
Two brothers complained of gynecomastia, testicular pain, and had a history of hypospadias. Biochemistry revealed low serum testosterone, high gonadotropin and anti-Mullerian hormone, and very low/undetectable inhibin concentrations, where available. Both patients had azoospermia in the spermiogram. We have identified a homozygous 2 bp deletion (c.208_209delAG, R70Gfs*3) variant, which leads to a truncated INHA protein in both patients, and confirmed heterozygosity in the parents. The external genital development, pubertal onset and progression, reproductive functions, serum gonadotropins, and sex hormones of mother and father, who were heterozygous carriers of the identified mutation, were normal.

Conclusion
Homozygosity for INHA mutations causes decreased prenatal and postnatal testosterone production and infertility in males, while the heterozygous female and male carriers of INHA mutations do not have any abnormality in sex development and reproduction.
Combination therapy of specific aeroallergens immunotherapy and omalizumab, in children with severe asthma
Authors: Valdesoiro-Navarrete Laura , León María Esther , Rodríguez Marcos , Indiveri Martina , Ayats Roser , Larramona Helena , García González Miguel , De la Cruz Òscar Asensio , Bosque García Montserrat 
Published: March 2022

Background: In most cases, severe asthma in children has an allergic etiology, but allergen-specific immunotherapy (AIT) is contraindicated.
Objective: This study aimed at analyzing the safety and efficacy of AIT in patients with severe asthma treated with omalizumab (OM).
Methods: A descriptive real-life study was carried out by reviewing medical records. Effectiveness was measured by the degree of control (CAN questionnaire), number of hospitalizations per year, number of exacerbations per year, and maintenance treatment and lung function (FEV1). Some adverse reactions occurred (AAI-EAACI-WAO guidelines).
Results: The retrospective study included 29 patients up to 18 years of age with severe asthma with OM plus AIT treatment. AIT treatment was started in a cluster schedule when patients treated with OM achieved disease control. Before starting AIT, patients were treated with OM for 1 year for achieving asthmatic control. AIT to mites (51%), Alternaria (37.9%), or pollens (10.3%) was administered. After one year with OM plus AIT,statistically significant differences in CAN scores and FEV1 measures were observed (P < 0.001). No patients under treatment with OM plus AIT required hospital admission. During the clustering schedule, only 3/64 doses showed systemic adverse reactions. During the AIT maintenance treatment, 348 doses were administered, with no significant adverse reactions.
Conclusion: In this population-based study in children with severe asthma, the combined treatment with OM plus AIT was safe and effective. This strategy allows these pediatric patients to be safely treated with AIT.
Reflex Therapy in the Complex of Restorative Treatment of Traumatological and Orthopedic Patients
Authors: Polyakova A. G. 
Published: March 2022

A number of authors have shown the possibility of using reflexotherapy in the complex of means of rehabilitation of patients with traumatological and orthopedic profile.
We analyzed a ten-year experience of using reflexotherapy in the complex of rehabilitation treatment of 196 patients with consequences of limb fractures and 187 patients with osteoarthritis of large joints. Among them there were 56% men and 44% women at the age of 21 to 67 years old.
Extracorporeal methods of detoxification in burn disease
Authors: Marchuk A. I. , Zaets T. L. , Stankevich V. E. 
Published: March 2022

The treatment of burn disease presents significant difficulties. Particularly high mortality (51.7% - 64.4%) occurs during the period of acute burn toxemia, characterized by pronounced intoxication of the body.
According to the toxic theory of burn toxemia pathogenesis, it is determined by the toxicity of blood, lymph, extracts from the skin and internal organs, fluid blisters burned. This theory is recognized by most combustiologists; researchers differ in their opinions only in assessing the nature of the toxin and the place of its formation.
Integral leukocgram indices in children with coronavirus infection COVID-19
Authors: Korotaeva K. S. , Furman E. G. , Sumlivaya Olga N. 
Published: March 2022

Objective. To study the changes in hematological leukocyte indices among children with coronavirus infection COVID-19 in the dynamics of infectious process.
Materials and methods. The work is based on the analysis of clinical and laboratory data from 91 pediatric patients with COVID-19. On the basis of a general blood test, the following hematological leukocyte indices were determined: the entropy degree of leukogram according to A.V. Gorelov et al.; leukocyte intoxication index according to V.K. Ostrovsky; nuclear endotoxicosis degree index according to G.D. Dashtayants; Harkavi adaptation index; Krebs index; leukocyte index; neutrophils to monocytes ratio index; lymphocytes to monocytes ratio index.
Results. The most sensitive hematological indices were the entropy degree of leukogram according to A.V. Gorelov et al., indicating a violation of the dynamic constancy of leukogram; neutrophils to monocytes ratio indices, lymphocytes to monocytes ratio indices, showing the presence of a viral infection. At the peak of the infectious process, C-reactive blood protein index significantly correlated with the endotoxicosis index according to G.D. Dashtayants (R = 0.271; p0.05), with neutrophils to monocytes ratio index (R = 0.276; p0.05); and in the period of early convalescence - with leukocyte intoxication index according to V.K. Ostrovsky (R = 0.743; p0.05), with endotoxicosis indices according to Dashtayants (R = 0.785; p0.05) and neutrophils to monocytes ratio index (R = 0.743; p0.05).
Conclusions. The calculation of hematological leukocyte indices increases the information capability of the general blood test in children with coronavirus infection COVID-19, provides important additional information on intoxication syndrome, the state of immune response, the persistence of inflammatory process during the period of convalescence as well.
Modification of emulsified fat (nanofat) obtaining procedures
Authors: Khramtsova N. I. , Plaksin S. A. , Gulyaeva N. I. , Sotskov A. Yu. , Ponomarev D. N. 
Published: March 2022

Objective. To modify the procedure by reducing the number of filters and passages through them.
Materials and Methods. 16 samples of fat, aspirated by a syringe from the abdominal region were examined. Fat filtration was carried out through anaerobic fat transfers with an inner diameter of 1.4 mm and 1.2 mm, as well as an emulsifying filter (nanofat filter). The content of destroyed adipocytes and fibroblast-like cells was assessed.
Results. The 1.2 mm filter with 10 passages protocol provides determination of the minimal number of adipocytes while maintaining fibroblast-like cells. While filtrating through the 1.4 mm transfer, and then immediately through the nanofat filter, numerous connective tissue fibers with fibroblast-like cells are identified. When filtrating an adipose tissue using the 1.4 mm transfer 10 times, then using nanofat filter 5 times, there was obtained a homogeneous fat emulsion with a high content of morphologically intact adipocytes, the particle diameter of which allows injecting with a thin needle syringe.
Conclusions. To obtain nanofat, it is possible to optimize the lipograft filtration protocol proposed by P. Tonnard (2013), depending on the purpose of using the obtained product.
Comment on “If Not Brittle: Ductile, Plastic, or Viscous?” by Kelin Wang
Authors: Lopez-Sanchez Marco A. , Demouchy Sylvie , Thoraval Catherine 
Published: March 2022

Abstract
In continuum mechanics, viscous materials are those that lack rigidity and elastic response under shear stress. We argue that using the term viscous to refer to the aseismic lithosphere is thus a misnomer because it denies the propagation of S waves through the lithosphere in total contradiction to decades of seismic surveys. Similarly, viscous materials lack yield stress, which is another feature expected in most situations within the aseismic lithosphere but is more difficult to assess. Aiming to reconcile the definitions of rheological terms between material and Earth and mineral sciences, we propose a decision tree chart for the use of the terms viscous, viscoelastic, plastic, and viscoplastic, all widely used terms in the materials and Earth sciences communities for describing fundamental macroscopic behavior of rocks under shear stresses.
A Local Magnitude Scale from Borehole Recordings with Site Correction of the Surface to Downhole
Authors: Lai Tz-Shin , Chao Wei-An , Wu Yih-Min 
Published: March 2022

Abstract
The Central Weather Bureau of Taiwan deployed 62 borehole seismic stations equipped with accelerometers and broadband seismometers by the end of 2018. Currently, a large number of earthquake records has been accumulated because of the high seismicity rate of Taiwan. These records can be used to detect microseismicity because the background seismic noise level is lower at downhole stations than surface stations. However, the magnitudes of the waveforms recorded by the downhole stations are lower than those of surface stations because of near-surface site effects. In Taiwan, local magnitude (ML) determinations use an attenuation function derived from surface stations, and ML will be underestimated if this attenuation function is used for downhole stations. Records of 14,653 earthquakes were used to determine site amplifications corresponding to site corrections of the surface to downhole. For all available earthquake–station pairs, a total of 5470 amplification factors satisfied condition of the incident angle less than 35°, which are used for further discussion in this work. The results reveal that amplification factors ranging from 1.11 to 6.07 can be used to describe site effects. These amplification factors are strongly correlated with VS30 (average shear-wave velocity for the top 30 m of strata). The amplification factor was used to revise station ML for downhole accelerometer (denoted MLB), and revised MLB (MLBNEW) was compared with ML from the surface accelerometer (denoted MLS). Results show that MLBNEW and MLS are similar. Using the derived site corrections of surface to downhole, the downhole seismograms can be used to directly determine ML, especially for the borehole broadband waveforms, enhancing detection capabilities for microearthquakes and improving the Taiwanese earthquake catalog.
Influence of the Heave Motion of a Floating Drilling Platform on the Crossflow Vortex-Induced Vibration of the Deepwater Drilling Riser
Authors: Wang Yanbin , Gao Deli , Wang Jinduo 
Published: March 2022

Summary
The study of vortex-induced vibration (VIV) characteristics of deepwater drilling risers is of great significance for correctly evaluating the risers’ fatigue life. Aiming to determine the VIV response of a deepwater drilling riser under the combined action of the heave motion of the floating drilling platform and sea current, this study established a mechanical model and governing equation of crossflow vortex-parametric vibration (CFVPV) based on the Van der Pol wake oscillator and Euler-Bernoulli beam. For this model, the governing equation is discretized in the time domain by applying the finite element method (FEM), and the equivalent integral form of the differential governing equation is obtained by the Galerkin method, and then solved using the Newmark method. On this basis, the influence of both the heave motion of the floating drilling platform, including the top tension fore, amplitude, and frequency, and the current profile on the CFVPV are analyzed in detail. The results show that the mechanical model and analysis method can be used to assess the CFVPV of deepwater drilling risers with high calculation accuracy. When considering the heave motion, the amplitude of the CFVPV response increases significantly, and more components of the vibration frequency appear. Moreover, the CFVPV displacement decreases with the top tension coefficient and heave motion frequency, while increasing with heave motion amplitude. It was found that the heave motion frequency changes the vibration amplitude and mode of the CFVPV, the effect of which was more obvious for the middle and lower parts of the riser. In addition, increasing the flow velocity reduces the effect of the heave motion. Finally, the CFVPV response at both ends of the riser was greater than that at the middle of the riser under the same flow velocity.
Infectious Complications of Cyclin-Dependent Kinases 4 and 6 Inhibitors in Patients With Hormone Receptor-Positive Metastatic Breast Cancer: A Systematic Review and Meta-analysis
Authors: Bas Onur , Erul Enes , Guven Deniz Can , Aksoy Sercan 
Published: March 2022

Abstract
Aim: The combination of cyclin-dependent kinase 4 and 6 (CDK 4/6) inhibitors plus endocrine therapy (ET) improved the survival outcomes and became standard of care in the treatment of metastatic hormone-positive breast cancer. However, these combinations increased the risk of neutropenia compared with ET alone. While the infection-related mortalities did not seem to be increased, the exact risk of infections with CDK 4/6 inhibitor and ET combinations is relatively understudied. Therefore, we performed a meta-analysis of CDK 4/6 inhibitor clinical trials to assess the infection risk of adding CDK4/6 inhibitors to ET.Material and Method: We systemically searched the PubMed database for relevant clinical trials. For each study, all grades and grade 3 or higher infections, upper respiratory tract infections (URTI), urinary tract infections (UTI), pneumonia and febrile neutropenia rates were recorded, whenever available. The hazard ratios (HR) with %95 confidence intervals (CI) of infection risk were calculated via the generic inverse-variance method with a random-effects model.Results: Nine eligible studies were included in the analyses (MONALEESA-2,3,7, MONARCH-2,3, MONARCH plus, PALOMA-1,2,3). In the meta-analysis of these studies, CDK 4/6 inhibitors plus ET arms were associated with increased all grades infections (HR: 1.77 95% CI: 1.56-2.01 p<0.00001), grade 3 or higher infections, (HR: 1.77, %95 CI:1.28-2.43 p=0.0005), UTIs (HR:1.59 %95 CI: 1.19-2.12 p=0.43), and febrile neutropenia (HR:4.28 %95 CI:1.73-10.62 p=0.002) Conclusion: In this meta-analysis, we observed that adding CDK4/6 inhibitors to ET significantly increased all grades and grade 3 or higher infections, UTIs. We propose that a close vigilance for infections is required for metastatic breast cancer patients using CDK 4/6 inhibitors.
Severity of Covid-19 Cases in the Months of Predominance of the Alpha Variant and the Role of Vaccination
Authors: Florensa Dídac , Mateo Jordi , Spaimoc Radu , Miret Carme , Godoy Sofia , Solsona Francesc , Godoy Pere 
Published: March 2022

Abstract
The emergence of new variants of the SARS-CoV-2 virus may suppose a problem for public health to control the COVID-19 pandemic. The aim of this study was to assess and compare symptoms and severity of COVID-19 cases in the months with a predominance of the Alpha variant compared to the Delta variant, taking the effect of COVID-19 vaccination into account. A prospective epidemiological study of SARS-CoV-2 in the province of Lleida was done that aimed to search for differences between the predominance of the Alpha and Delta variants. The information analyzed was the symptoms, specific comorbidities, socio-demographic information and vaccination status. A bivariate and multivariate analyses were performed to estimate the adjusted odds ratio (aOR) and its 95% confidence interval (CI) in order to investigate relationships of symptoms and severity between variants. In the Alpha variant period there was an increased risk of ICU admission (aOR=2.0; 95%CI:1.2-2.3) and death (aOR=2.6; 95%CI:1.8-3.9) and cases were associated with those aged over 85 (aOR=2.1; 95%CI:1.7-2.6) and partially vaccinated (aOR=5.6; 95%CI:3.2-9.9) or unvaccinated (aOR=27.8; 95%CI:19.7-40.5). Regarding the symptoms, fever, cough and vomits gave significant results with aORs of 1.6 (95% CI: 1.5-1.7), 2.0 (95% CI: 1.9-2.2) and 2.5 (95% CI: 2.2-2.9). The results suggest that more severe cases appeared during the predominance of the alpha variant. The risk of ICU admission and the death was higher in the alpha period due to it affecting more elderly people and a lack of vaccination among cases. Fever, cough and vomiting were more frequent during the dominance of the alpha variant.
International disparity of mental disorders burden: New trends of global mental health disparity
Authors: ZHU Huijie , JIANG Haojun , ZHU Zhiping , YAO Zhaoyu 
Published: March 2022

Abstract
Background: Mental illness had been a worldwide concern. Global Mental Health (GMH) had become a movement to fight for Global health inequality. In low-income country, adequate and quality mental health infrastructure, mental health services are not provided equitably to people with mental disorders.Methods: We used the data of global burden of 204countries from 1990 to 2019 in Global Burden of Disease database. The Years Lived with Disability (YLDs) due to mental disorders was treated as an indicator of national mental health. In the GBD Results Tool toolkit provided by the Institute of Health Measurement and Evaluation, retrieved and visualized the data in global burden of disease data. In addition, we used correlation analysis to analyze the correlation between the burden of mental illness and the level of national development.Results: It is found that, mental health had been a global issue which showing a gradual upward trend. There is a significant positive and moderate correlation between national development and the burden of mental disorder. The better the national development, the higher the YLDs Rate caused by mental disorders. The burden of mental illness in low-income countries is not high, but the rate of increase is relatively fast, while the burden of mental illness in low- and middle-income countries is relatively high, but the rate of decrease is apparent.Conclusion: The burden of mental disorders in developed countries is relatively high, but it has shown a downward trend. However, although the burden of mental disorders in developing countries is not large, the growth rate is relatively fast. This may be related to mental health policy. It is high time to notice that mental health had been a global issue. Global mental health movement should be done to narrow the gap between different countries, especially in developing countries.
Bioinformatics-Based Characterization of Key Biomarkers and Immune Infiltration in Coronary Artery Disease
Authors: Xu LiuGang , Jiang JianYu , Wang YaJun , Shan YiSi , Zhang JinHu , Yang Li , Cao RuiHong 
Published: March 2022

Abstract
Objective: This paper aims to identify potentially related genes of coronary artery disease (CAD) and determine the relationship with immune cell infiltration.Materials and methods: Three datasets (GSE42148, GSE98583, GSE12288) containing coronary heart disease and healthy people are downloaded from the Gene Expression Database (GEO). Use the "limma" package in the "R" software to screen the differentially expressed genes (DEGs) in the three sets of data respectively, use the "pheatmap" package to construct a heatmap of the DEGs, and draw the venn maps of the three sets of differential genes. The DAVID database is used for the analysis of Gene Ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG). The String platform and Cytoscape software are used to perform protein interaction analysis on differential genes, create Protein-Protein Interaction (PPI) networks on DEGs, and screen hub genes. The CIBERSORTx web version tool performs immune cell infiltration analysis on sample data sets.Results: GSE42148 screened out 227 differential genes, of which 161 were up-regulated and 66 were down-regulated (p<0.05, |logFC|>1.0); GSE98583 screened out 254 differential genes, of which 141 were up-regulated and 113 were down-regulated (p<0.05, |logFC|>1.0). 68 differential genes were screened in GSE12288, of which 33 were up-regulated and 35 were down-regulated (p<0.05, |logFC|>0.38). There are 8 differential genes in the intersection of the three groups of DEGs, namely MAP7, RIPK4, BAALC, CA6, CXCL14, HIST1H2AE, MS4A3, GPR15. With the help of enrichment analysis and the construction of PPI networks, HIST1H2AE and CXCL14 were finally determined as the key biomarkers of CAD. Immune infiltration analysis suggests that B cells naive, macrophages M0 and T cells CD4 naïve are closely related to the pathogenesis of CAD.Conclusion: HIST1H2AE and CXCL14 can be used as key biomarkers of CAD. Inflammation and immune cell infiltration play a key role in the occurrence and development of CAD.
PPAR γ Protects Against Hypoxic Renal Tubular Epithelial Cell Injury in Rat Model: A Randomized Controlled Trial
Authors: Zhu Shi-Qun , Zou Jia-Sen , Chen Xiu-Qi , Tu Li , Jian Shu-Juan , Qin Yuan-Han 
Published: March 2022

Abstract
Background
To explore t function of peroxisome proliferator-activated receptor γ(PPARγ) in renal tissue in acute hypoxic renal rat model injury.
Methods
24 male SD rats were randomly divided into normal control group, PPARγ agonist group (rosiglitazone 10 mg/kg.d), PPARγ inhibitor group༈GW9662,1mg/kg·d༉and hypoxia injury group, with six rats in each group. The normal control group without any treatment, the other three groups were exposed to 7500 m altitude for seven hours of acute hypobaric hypoxia. The mRNA and protein expressions of PPARγ, superoxide dismutase (SOD), interleukin-1 β༈IL-1β༉ and renal endothelin(ET-1) in renal tissue were detected by using real-time fluorescence quantitative polymerase chain reaction (RT-qPCR) and western blotting. The kidney’s morphology was observed by light microscope and electron microscope.
Results
The mRNA and protein expression levels of PPARγ and SOD in hypoxia injury group decreased significantly (P < 0.05), while the mRNA and protein expression levels of IL-1 β and ET-1 increased significantly compared with the normal control group (P < 0.05). After intervention with PPAR agonists, the PPARγ and SOD were elevated significantly, while IL-1 β and ET-1 were decreased significantly compared to the hypoxia injury group. The renal tubule epithelial cells (RTEC) were less damaged and abscission was reduced.
Conclusions
PPARγ protect renal tubular epithelial cells from hypoxia-induced injury. PPARγ agonists can be used as potential target interventions to alleviate acute hypoxic kidney injury.