bluuebunny/crossref_metadata_2025_split huggingface dataset:
Genetic and histopathological analysis of transverse testicular ectopia without persistent Müllerian duct syndrome: two case reports
Authors: Nagai Takashi , Mizuno Kentaro , Usami Masayuki , Nishio Hidenori , Kato Taiki , Nakane Akihiro , Matsumoto Daisuke , Kurokawa Satoshi , Kamisawa Hideyuki , Maruyama Tetsuji , Yasui Takahiro , Hayashi Yutaro 
Published: November 2020

Abstract
Background
Transverse testicular ectopia (TTE) is a rare anomaly in which both testes descend through a single inguinal canal into the same hemiscrotum. Although almost 20–50% of patients with TTE exhibit persistent Müllerian duct syndrome (PMDS) and many genetic analyses have been performed, no reports have described the genes contributing to TTE without PMDS. Here, we report two cases of TTE without PMDS using immunohistochemical staining and genetic analysis.

Case presentation
Two Asian patients with TTE without PMDS were subjected to orchiopexy. We performed testicular biopsies during operation and obtained blood samples before the operation. Testicular tissues were stained for c-kit, placental alkaline phosphatase (PLAP), and undifferentiated embryonic cell transcription factor 1 (UTF1) to evaluate the presence of intratubular malignant germ cells. Additionally, we performed polymerase chain reaction-based direct sequencing to identify single nucleotide polymorphisms in genes associated with regression of the Müllerian duct and testicular descent (that is, anti-Müllerian hormone [AMH], AMH receptor 2 [AMHR2], insulin-like 3 [INSL3], and relaxin family peptide receptor 2 [RXFP2]). The three-dimensional structures of proteins were predicted using SWISS-MODEL. In immunohistochemical analysis, c-kit and UTF1 were positive, whereas PLAP was negative in three testicular tissue samples from the two patients. These features were also detected on the unaffected side. In variant analysis, common missense variants in the AMH gene (g.365G>T; c.165G>T; p.Ser49Ile [rs10407022]) were observed. All variants in INSL3 and RXFP2 genes were intronic or silent.

Conclusions
Because UTF1, a specific marker of spermatogonial stem cell activity, was expressed in both the affected and unaffected sides in the testicular tissues of two patients, the risk of malignancy may be high in these patients. Although the etiology of TTE without PMDS remains unclear, our variant analysis results were consistent with previous reports, and variants in the AMH gene (rs10407022) may contribute to the specific phenotype of TTE without PMDS.
Oracle inequalities for weighted group lasso in high-dimensional misspecified Cox models
Authors: Xiao Yijun , Yan Ting , Zhang Huiming , Zhang Yuanyuan 
Published: November 2020

AbstractWe study the nonasymptotic properties of a general norm penalized estimator, which include Lasso, weighted Lasso, and group Lasso as special cases, for sparse high-dimensional misspecified Cox models with time-dependent covariates. Under suitable conditions on the true regression coefficients and random covariates, we provide oracle inequalities for prediction and estimation error based on the group sparsity of the true coefficient vector. The nonasymptotic oracle inequalities show that the penalized estimator has good sparse approximation of the true model and enables to select a few meaningful structure variables among the set of features.
The functional inequality for the mixed quermassintegral
Authors: Chen Fangwei , Fang Jianbo , Luo Miao , Yang Congli 
Published: November 2020

AbstractIn this paper, the functional Quermassintegrals of a log-concave function in $\mathbb{R}^{n}$

R
n

are discussed. The functional inequality for the ith mixed Quermassintegral is established. Moreover, as a special case, a weaker log-Quermassintegral inequality in $\mathbb{R}^{n}$

R
n

is obtained.
Down syndrome cell adhesion molecule like-1 (DSCAML1) links the GABA system and seizure susceptibility
Authors: Hayase Yoneko , Amano Shigeru , Hashizume Koichi , Tominaga Takashi , Miyamoto Hiroyuki , Kanno Yukie , Ueno-Inoue Yukiko , Inoue Takayoshi , Yamada Mayumi , Ogata Shigehiro , Balan Shabeesh , Hayashi Ken , Miura Yoshiki , Tokudome Kentaro , Ohno Yukihiro , Nishijo Takuma , Momiyama Toshihiko , Yanagawa Yuchio , Takizawa Akiko , Mashimo Tomoji , Serikawa Tadao , Sekine Akihiro , Nakagawa Eiji , Takeshita Eri , Yoshikawa Takeo , Waga Chikako , Inoue Ken , Goto Yu-ichi , Nabeshima Yoichi , Ihara Nobuo , Yamakawa Kazuhiro , Taya Shinichiro , Hoshino Mikio 
Published: November 2020

AbstractThe Ihara epileptic rat (IER) is a mutant model with limbic-like seizures whose pathology and causative gene remain elusive. In this report, via linkage analysis, we identified Down syndrome cell adhesion molecule-like 1(Dscaml1) as the responsible gene for IER. A single base mutation in Dscaml1 causes abnormal splicing, leading to lack of DSCAML1. IERs have enhanced seizure susceptibility and accelerated kindling establishment. Furthermore, GABAergic neurons are severely reduced in the entorhinal cortex (ECx) of these animals. Voltage-sensitive dye imaging that directly presents the excitation status of brain slices revealed abnormally persistent excitability in IER ECx. This suggests that reduced GABAergic neurons may cause weak sustained entorhinal cortex activations, leading to natural kindling via the perforant path that could cause dentate gyrus hypertrophy and epileptogenesis. Furthermore, we identified a single nucleotide substitution in a human epilepsy that would result in one amino acid change in DSCAML1 (A2105T mutation). The mutant DSCAML1A2105T protein is not presented on the cell surface, losing its homophilic cell adhesion ability. We generated knock-in mice (Dscaml1A2105T) carrying the corresponding mutation and observed reduced GABAergic neurons in the ECx as well as spike-and-wave electrocorticogram. We conclude that DSCAML1 is required for GABAergic neuron placement in the ECx and suppression of seizure susceptibility in rodents. Our findings suggest that mutations in DSCAML1 may affect seizure susceptibility in humans.
Plasticiser loss in heritage collections: its prevalence, cause, effect, and methods for analysis
Authors: King Rose , Grau-Bové Josep , Curran Katherine 
Published: November 2020

Abstract
Plasticiser loss is a topic frequently mentioned in discussions on the degradation of plastic artefacts in museum collections, particularly for plasticised poly (vinyl chloride) and cellulose acetate. Plasticisers may migrate to the plastic’s surface and remain as a deposit, or volatilise into the surrounding environment, both presenting an aesthetic issue and impacting the future stability of the plastic. This paper draws on the work of conservation science, materials degradation, and indoor air quality/emissions studies, to review our current understanding of plasticiser loss. The influence of the material’s intrinsic properties, and environmental factors on migration rates are discussed and related to preventive conservation practices. The methods by which plasticiser migration is studied, including characterisation, are also reviewed, with a particular focus on minimally invasive and non-destructive methods suitable for heritage science research.
Ionospheric disturbance caused by artificial plasma clouds under different release conditions
Authors: Zhu Xiaoli , Hu Yaogai , Zhao Zhengyu , Ni Binbin , Zhang Yuannong 
Published: November 2020

AbstractThe generation and evolution of artificial plasma clouds is a complicated process that is strongly dependent on the background environment and release conditions. In this paper, based on a three-dimensional two-species fluid model, the evolution characteristics of artificial plasma clouds under various release conditions were analyzed numerically. In particular, the effect of ionospheric density gradient and ambient horizontal wind field was taken into account in our simulation. The results show that an asymmetric plasma cloud structure occurs in the vertical direction when a nonuniform ionosphere is assumed. The density, volume, and expansion velocity of the artificial plasma cloud vary with the release altitude, mass, and initial ionization rate. The initial release velocity can change the cloud's movement and overall distribution. With an initial velocity perpendicular to the magnetic field, an O+ density cavity and two bumps exist. When there is an initial velocity parallel to the magnetic field, the generated plasma cloud is bulb-shaped, and only one O+ density cavity and one density bump are created. Compared to the cesium case, barium clouds expand more rapidly. Moreover, Cs+ clouds have a higher density than Ba+ clouds, and the snowplow effect of Cs+ is also stronger.
Few self-citations among Chilean ecologists
Authors: Rau Jaime R. , Jaksic Fabian M. 
Published: November 2020

Abstract
Background
We determine the occurrence of self-citations among 36 Chilean ecologists with the highest h index values recorded in Web of Science. Because the practice of self-citation is perceived as negative by inflating a given researcher’s impact factor, we evaluate if those ecologists (five of them having been awarded the National Prize in Natural Sciences) tend unduly to self-citation, or alternately, receive citations from others ostensibly because their peers recognize their theoretical and empirical output.

Methods and findings
We use a recently proposed self-citation estimate easily calculated from h index values recorded in the restricted-access Web of Science (Wos) database and the open-access Google Scholar’s (GS) Researcher Profiles and compare these metrics.

Conclusions
The Chilean ecologists showed low self-citation values, independently of their status as National Prize awardees. Their publications were highly cited by unrelated peers, likely on account of their novelty or quality. Among middle-aged (50–60 year) and young (< 50 year) Chilean ecologists open-access GS h index values are significantly correlated with those from WoS, thus rendering expeditious this method of citation assessment.
Screening for Ames mutagenicity of food flavor chemicals by (quantitative) structure-activity relationship
Authors: Honma Masamitsu , Kitazawa Airi , Kasamatsu Toshio , Sugiyama Kei-ichi 
Published: November 2020

Abstract
Background
(Quantitative) Structure-Activity Relationship ((Q)SAR) is a promising approach to predict the potential adverse effects of chemicals based on their structure without performing toxicological studies. We evaluate the mutagenicity of food flavor chemicals by (Q) SAR tools, identify potentially mutagenic chemicals, and verify their mutagenicity by actual Ames test.

Results
The Ames mutagenicity of 3942 food flavor chemicals was predicted using two (Q)SAR) tools, DEREK Nexus and CASE Ultra. Three thousand five hundred seventy-five chemicals (91%) were judged to be negative in both (Q) SAR tools, and 75 chemicals (2%) were predicted to be positive in both (Q) SAR tools. When the Ames test was conducted on ten of these positive chemicals, nine showed positive results.

Conclusion
The (Q) SAR method can be used for screening the mutagenicity of food flavors.
Effect of the versatile bifunctional chelator AAZTA5 on the radiometal labelling properties and the in vitro performance of a gastrin releasing peptide receptor antagonist
Authors: Hofstetter Michael , Moon Euy Sung , D’Angelo Fabio , Geissbühler Lucien , Alberts Ian , Afshar-Oromieh Ali , Rösch Frank , Rominger Axel , Gourni Eleni 
Published: November 2020

Abstract
Background
Gastrin Releasing Peptide receptor (GRPr)-based radioligands have shown great promise for diagnostic imaging of GRPr-positive cancers, such as prostate and breast.
The present study aims at developing and evaluating a versatile GRPr-based probe for both PET/SPECT imaging as well as intraoperative and therapeutic applications. The influence of the versatile chelator AAZTA5 on the radiometal labelling properties and the in vitro performance of the generated radiotracers were thoroughly investigated.
The GRPr-based antagonist D-Phe-Gln-Trp-Ala-Val-Gly-His-Sta-Leu-NH2 was functionalized with the chelator 6-[Bis (carboxymethyl)amino]-1,4-bis (carboyxmethyl)-6-methyl-1,4-diazepane (AAZTA5) through the spacer 4-amino-1-carboxymethyl-piperidine (Pip) to obtain AAZTA5-Pip-D-Phe-Gln-Trp-Ala-Val-Gly-His-Sta-Leu-NH2 (LF1). LF1 was radiolabelled with gallium-68 (PET), indium-111 (SPECT, intraoperative applications) and lutetium-177 (therapy, SPECT). In vitro evaluation included stability studies, determination of lipophilicity, protein-binding studies, determination of Kd and Bmax as well as internalization studies using the epithelial human prostate cancer cell line PC3. In vitro monotherapy as well as combination therapy studies were further performed to assess its applicability as a theranostic compound.

Results
LF1 was labelled with gallium-68, indium-111 and lutetium-177 within 5 min at room temperature (RT). The apparent molar activities (Am) were ranging between 50 and 60 GBq/μmol for the 68Ga-labelled LF1, 10–20 GBq/μmol for the 111In- and 177Lu-labelled LF1. The radiotracers were stable for a period of 4 h post labeling exhibiting a hydrophilic profile with an average of a LogDoctanol/PBS of − 3, while the bound activity to the human serum protein was approximately 10%. 68/natGa-LF1, 177/natLu-LF1 and 111/natIn-LF1 exhibited high affinity for the PC3 cells, with Kd values of 16.3 ± 2.4 nM, 10.3 ± 2.73 nM and 5.2 ± 1.9 nM, respectively, and the required concentration of the radiotracers to saturate the receptors (Bmax) was between 0.5 and 0.8 nM which corresponds to approximately 4 × 105 receptors per cell. Low specific internalization rate was found in cell culture, while the total specific cell surface bound uptake always exceeded the internalized activity. In vitro therapy studies showed that inhibition of PC3 cells growth is somewhat more efficient when combination of 177Lu-labelled LF1 with rapamycin is applied compared to 177Lu-laballed LF1 alone.

Conclusion
Encouraged by these promising in vitro data, preclinical evaluation of the LF1 precursor are planned in tumour models in vivo.
Ex vivo generation of platelet products from human iPS cells
Authors: Nakamura Sou , Sugimoto Naoshi , Eto Koji 
Published: November 2020

AbstractPlatelet products are used in treatments for thrombocytopenia caused by hematopoietic diseases, chemotherapy, massive hemorrhages, extracorporeal circulation, and others. Their manufacturing depends on volunteers who donate blood. However, it is becoming increasingly necessary to reinforce this blood donation system with other blood sources due to the increase in demand and shortage of supply accompanying aging societies. In addition, blood-borne infections and alloimmune platelet transfusion refractoriness are not completely resolved. Since human induced pluripotent stem cell (iPSC)-platelet products can be supplied independently from the donor, it is expected to complement current platelet products. One big hurdle with iPSC-based systems is the production of 10 units, which is equivalent to 200 billion platelets. To overcome this issue, we established immortalized megakaryocyte cell lines (imMKCLs) by introducing three transgenes, c-MYC, BMI1, and BCL-XL, sequentially into hematopoietic and megakaryocytic progenitor stage cells derived from iPSCs. The three transgenes are regulated in a Tet-ON manner, enabling the addition and depletion of doxycycline to expand and maturate the imMKCLs, respectively. In addition, we succeeded in discovering drug combinations that enable feeder-free culture conditions in the imMKCL cultivation. Furthermore, we discovered the importance of turbulence in thrombopoiesis through live bone marrow imaging and developed a bioreactor based on the concept of turbulent flow. Eventually, through the identification of two key fluid physic parameters, turbulent energy and shear stress, we succeeded in scaling up the bioreactor to qualitatively and quantitatively achieve clinically applicable levels. Interestingly, three soluble factors released from imMKCLs in the turbulent flow condition, macrophage migration inhibitory factor (MIF), insulin growth factor binding protein 2 (IGFBP2), and nardilysin (NRDC), enhanced platelet production. Based on these developments, we initiated the first-in-human clinical trial of iPSC-derived platelets to a patient with alloimmune platelet transfusion refractoriness (allo-PTR) using an autologous product. In this review, we detail current research in this field and our study about the ex vivo production of iPSC-derived platelets.
Acute abdomen in children due to different presentations of complicated Meckel’s diverticulum: a case series
Authors: Almetaher Hisham A. , Mansour Mohammed Awad 
Published: November 2020

AbstractBackgroundMeckel’s diverticulum (MD) is the commonest congenital abnormality of the gastrointestinal tract that occurs in 2% of general population. It remains asymptomatic, but it may lead to life-threatening complications. These complications may be misdiagnosed with other gastrointestinal disorders like acute appendicitis, making its diagnosis challenging among pediatricians and pediatric surgeons. In this study, we reported five cases with different presentations of complicated MD in children.ResultsFive patients with different presentations of MD were reported during the period from January 2016 to January 2020. Patients’ demographics, clinical presentations, investigations, operative data, and postoperative outcome were recorded and analyzed.ConclusionsThe present study highlights different presentations of MD. Surgical interference is the main key of treatment of symptomatic MD either by wedge resection of a small base diverticulum or by resection anastomosis of the small intestine in wide base and inflamed diverticulum.
Female pelvic congestion syndrome: how can CT and MRI help in the management decision?
Authors: Osman Ahmed M. , Mordi Ahmed , Khattab Rasha 
Published: November 2020

Objective:
Diagnosis of female pelvic congestion syndrome (PCS) is challenging. Although invasive venography is the gold-standard for diagnosis, however, CT and MRI are important in the assessment. In this study, we tried to highlight the role of CT and MRI as non-invasive tools in the diagnosis and management of PCS.

Methods and material:
This was a retrospective study of 50 patients confirmed clinically to have PCS. These patients had already done CT and MRI before venography or surgery.

Results:
The mean age of the patients was 48 years ± 12 years SD. Vaginal discharge and pelvic heaviness were the commonest symptoms (46 and 42% respectively). The commonest risk factor was multiparity (56%) followed by the RVF uterus (26%). No significant difference was found between CT, MRI, and venography as regarding the diameter of the ovarian vein, diameter, and the number of the varicose veins. The sensitivity of CT and MRI was 94.8 and 96%. CT and MRI discovered five cases with local pelvic obstructing cause,14 cases with evidence of vascular compression syndrome, and the rest 31 cases diagnosed to have primary non-obstructing PCS which was effective in decision-making with the surgery indicated in the first group while stenting of the vascular obstruction followed by bilateral ovarian veins coiling was the better option for the second group and only bilateral coiling was needed for the last group.

Conclusion:
CT and MRI play important roles in the diagnosis and even management decision in cases of PCS.

Advances in knowledge: :
Identification of the importance of diagnostic radiology before management decisions of cases with PCS.
Estudo transversal sobre uso de ferramentas virtuais para orientar a atividade física durante a COVID-19
Authors: Guimarães Jean Augusto Coelho , Guerra Paulo Henrique , Ueno Deisy Terumi , Christofoletti Ana Elisa Messetti , Nakamura Priscila Missaki 
Published: November 2020

A elevada taxa de transmissão e mortalidade pela COVID-19 acarretou o fechamento de centros de movimentação social, dentre eles locais para prática de atividade física. Com isso, o objetivo do estudo foi identificar as principais estratégias e ferramentas tecnológicas virtuais, percepção dos profissionais de educação física (PEF) acerca das adaptações, pontos positivos, negativos e feedbacks dos clientes para orientar a prática de atividade física durante o isolamento social/restrição de circulação devido ao vírus SARS-COV-2. Optou-se pela pesquisa transversal, quanti-qualitativa, com técnica de amostragem “bola de neve”, sendo recrutados PEF das cinco regiões do Brasil. Os participantes responderam um questionário online com questões sociodemográficas, uso das ferramentas tecnológicas virtuais, perfil dos clientes e questões discursivas acerca da orientação online à atividade física. Foi realizada estatística descritiva e análise por codificação simples. Participaram 110 PEF de 65 cidades do país, os quais geralmente atendem em academias de ginástica (59,8%) e ao ar livre (34,5%), tendo clientes adultos (92,9%), do sexo feminino (51,8%). Dentre as ferramentas tecnológicas virtuais utilizadas estão “vídeos” (60,9%) e “Whatsapp web” (60,0%), geralmente ferramentas gratuitas (67,5%) e, para que o trabalho ocorra, são necessárias adaptações estruturais/materiais e profissionais. Embora haja aspectos negativos e dificuldades na orientação remota à prática de atividade física, os aspectos positivos e facilidades permitem que o PEF se conecte com seus respectivos clientes mesmo durante a pandemia, estimulando e, orientando de forma segura, a prática de atividade física. Esta temática necessita ser mais explorada para que essas ferramentas auxiliem os PEF.
Factors associated with delirium and cognitive decline following hip fracture surgery
Authors: Uzoigwe Chika E. , O'Leary Lawrence , Nduka Jude , Sharma Daman , Melling David , Simmons Damon , Barton Simon 
Published: November 2020

Aims Postoperative delirium (POD) and postoperative cognitive decline (POCD) are common surgical complications. In the UK, the Best Practice Tariff incentivizes the screening of delirium in patients with hip fracture. Further, a National Hip Fracture Database (NHFD) performance indicator is the reduction in the incidence of POD. To aid in its recognition, we sought to determine factors associated with POD and POCD in patients with hip fractures. Methods We interrogated the NHFD data on patients presenting with hip fractures to our institution from 2016 to 2018. POD was determined using the 4AT score, as recommended by the NHFD and UK Department of Health. POCD was defined as a decline in Abbreviated Mental Test Score (AMTS) of two or greater. Using logistic regression, we adjusted for covariates to identify factors associated with POD and POCD. Results Of the 1,224 patients presenting in the study period, 1,023 had complete datasets for final analysis. POD was observed in 242 patients (25%). On multivariate analysis only preoperative AMTS and American Society of Anesthesiologists grade (ASA) were independent predictors of POD. Every point increase in AMTS was associated with a fall in the odds of POD by a factor of 0.60 (95% confidence interval (CI) 0.56 to 0.63, p < 0.001). Every grade increase in ASA led to a 1.7-fold increase in the odds of POD (95% CI 1.13 to 2.50, p = 0.009). A preoperative AMTS of less than 8 was strongly predictive of POD with area under the receiver operating characteristic of 0.86 (95% CI 0.84 to 0.89). Only ASA was predictive of POCD—every grade increase in ASA led to a 2.6-fold increase in the odds of POCD (95% CI 1.7 to 4.0, p < 0.001). Conclusion POD and POCD are common in the hip fracture patients. Preoperative AMTS and ASA are strong predictors of POD, and ASA predictive of POCD. This may aid in the earlier identification of those most at risk and suited for the patient consent and decision-making process. Cite this article: Bone Joint J 2020;102-B(12):1675–1681.