bluuebunny/crossref_metadata_2025_split huggingface dataset:
First dorsal metacarpal artery flap with dorsal digital nerve with or without dorsal branch of the proper digital nerve produces comparable short-term sensory outcomes
Authors: Feng Shi-Ming , Zhao Jia-Ju , Migliorini Filippo , Maffulli Nicola , Xu Wei 
Published: November 2021

Abstract
Background
The first dorsal metacarpal artery flap, including dorsal digital nerves with or without dorsal branches of the proper digital nerves, can be used to reconstruct thumb pulp defects with good results. However, it is still unclear whether there are differences in the sensory outcomes between preserving or not preserving the dorsal branches of the proper digital nerves.

Methods
This retrospective cohort study included 137 thumb pulp defect patients who underwent first dorsal metacarpal artery flap reconstruction procedure from October 2015 to June 2019. Patients were divided into two groups according to whether the dorsal branches of the proper digital nerves were preserved. In the non-preservation group (n = 80), the dorsal digital nerves were included in the flap for sensory reconstruction. In the preservation group (n = 57), the dorsal digital nerves and the dorsal branches of the proper digital nerves of the index finger were included in the flap. The stump of the proper digital nerves in the defect was coaptated to the donor nerves of the flap using the end-to-end fashion. At the last follow-up, static two-point discrimination, Semmes–Weinstein monofilament scores, pain, cold intolerance of the reconstructed finger, and patient satisfaction in both groups were compared.

Results
All patients were followed up for at least 17 months. No significant differences were found regarding pain of thumb pulp, static two-point discrimination, Semmes–Weinstein monofilament score, cold intolerance in the injured finger, and patient satisfaction. The non-preservation group presented slightly shorter operative times (p < 0.05).

Conclusion
There are no differences at 2 years in postoperative clinical outcomes when dorsal digital nerves are used to reconstruct flap sensation regardless of preservation of the dorsal branches of the proper digital nerves in the first dorsal metacarpal artery flap.
Level of evidence: Level III, retrospective comparative study.
International consensus on clinical severity scale use in evaluating Niemann–Pick disease Type C in paediatric and adult patients: results from a Delphi Study
Authors: Evans William , Patterson Marc , Platt Frances , Guldberg Christina , Mathieson Toni , Pacey Jessica ,   the Core Working Group for the Delphi Study, Berry-Kravis Elizabeth , Farhat Nicole , Gascon Jordi , Geberhiwot Tarek , Gissen Paul , Giugliani Roberto , Hastings Caroline , Héron Bénédicte , Imrie Jackie , Jones Simon , Lachmann Robin , Mengel Eugen , Patterson Marc , Pineda Mercedes , Porter Denny , Runz Heiko , Stampfer Miriam , Strupp Michael , Walterfang Mark 
Published: November 2021

AbstractBackgroundSeveral scales have been developed in the past two decades to evaluate Niemann–Pick disease Type C (NPC) severity in clinical practice and trials. However, a lack of clarity concerning which scale to use in each setting is preventing the use of standardised assessments across the world, resulting in incomparable data sets and clinical trial outcome measures. This study aimed to establish agreed approaches for the use of NPC severity scales in clinical practice and research.MethodsA Delphi method of consensus development was used, comprising three survey rounds. In Round 1, participants were asked nine multiple-choice and open-ended questions to gather opinions on the six severity scales and domains. In Rounds 2 and 3, questions aimed to gain consensus on the opinions revealed in Round 1 using a typical Likert scale.ResultsNineteen experts, active in NPC paediatric and adult research and treatment, participated in this study. Of these, 16/19 completed Rounds 1 and 2 and 19/19 completed Round 3. Consensus (defined as ≥ 70% agreement or neutrality, given the study aim to identify the severity scales that the clinical community would accept for international consistency) was achieved for 66.7% of the multiple-choice questions in Round 2 and 83% of the multiple-choice questions in Round 3. Consensus was almost reached (68%) on the use of the 5-domain NPCCSS scale as the first choice in clinical practice. Consensus was reached (74%) for the 17-domain NPCCSS scale as the first choice in clinical trial settings, but the domains measured in the 5-domain scale should be prioritised as the primary endpoints. Experts called for educational and training materials on how to apply the NPCCSS (17- and 5-domains) for clinicians working in NPC.ConclusionsIn achieving a consensus on the use of the 17-domain NPCCSS scale as the first choice for assessing clinical severity of NPC in clinical trial settings but prioritising the domains in the 5-domain NPCCSS scale for routine clinical practice, this study can help to inform future discussion around the use of the existing NPC clinical severity scales. For routine clinical practice, the study helps provide clarity on which scale is favoured by a significant proportion of a representative body of experts, in this case, the 5-domain NPCCSS scale.
Prenatal diagnosis of a 4.5-Mb deletion at chromosome 4q35.1q35.2: Case report and literature review
Authors: Xiao Gefei , Qiu Xianrong , Zhou Yuqiu , Tan Gongjun , Shen Yao 
Published: November 2021

Abstract
Objective
We present a genetic analysis of an asymptomatic family with a 4q terminal deletion; we also review other similar published studies and discuss the genotype–phenotype correlation.

Methods
A karyotype analysis was performed on the amniotic fluid cells of a woman at 24 weeks of pregnancy and peripheral blood lymphocytes from both parents and their older son with the conventional G-banding technique. Chromosomal microarray analysis (CMA) testing was carried out for both parents and the fetus to analyze copy number variation (CNV) in the whole genome.

Results
The results showed no abnormalities in the karyotypes of the father and older son, and the karyotypes of the mother and fetus were 46,XX,del(4)(q35.1) and 46,XY,del(4)(q35.1), respectively. CMA results showed a partial deletion at the 4q terminus in both the fetus and mother. The deletion region of the fetus was arr[GRCh37] 4q35.1q35.2(186,431,008_190,957,460) × 1; the loss size of the CNV was approximately 4.5 Mb and involved 14 protein-coding genes, namely, CYP4V2, F11, FAM149A, FAT1, FRG1, FRG2, KLKB1, MTNR1A, PDLIM3, SORBS2, TLR3, TRIML1, TRIML2, and ZFP42. No variation on chromosome 4 was detected in the father’s CMA results.

Conclusion
Deletion of the 4q subtelomeric region is a familial variation. The arr[GRCh37] 4q35.1q35.2(186,431,008_190,957,460) region single-copy deletion did not cause obvious congenital defects or mental retardation. The application of high-resolution genetic testing technology combined with the analysis of public genetic database information can more clearly elucidate the genotype–phenotype correlation of the disease and provide support for both prenatal and postnatal genetic counseling.
Study protocol: evaluation of the addictive potential of e-cigarettes (EVAPE): neurobiological, sociological, and epidemiological perspectives
Authors: Vollstädt-Klein Sabine , Grundinger Nadja , Görig Tatiana , Szafran Daria , Althaus Astrid , Mons Ute , Schneider Sven 
Published: November 2021

AbstractBackgroundTobacco use is the largest preventable cause of diseases and deaths; reducing tobacco intake is, therefore, an urgent public health goal. In recent years, e-cigarettes have been marketed as a 'healthier' alternative to tobacco smoking, whilst product features have evolved tremendously in the meantime. A lively scientific debate has developed regarding the potential benefits and risks of e-cigarettes although, surprisingly, there are few studies investigating the addictive potential of nicotine-containing e-cigarettes. The present work comprises three work packages investigating the addictive potential of e-cigarettes from different perspectives: (1) the neurobiological addictive potential of e-cigarettes; (2) the experience and perception of dependence symptoms among users of e-cigarettes in a social context; and (3) the epidemiological perspective regarding factors influencing the potential for dependence.MethodsWork package I: the neurobiological study will investigate the key elements of addiction in e-cigarettes compared to tobacco cigarettes using neurobiological and neuropsychological correlates associated with craving, incentive motivation, cue reactivity and attentional bias. Work package II: the sociological study part examines self-reports on the experience and perception of dependence symptoms in a social context, using focus group interviews and the analysis of posts in online discussion forums on e-cigarettes. Work package III: the epidemiological study part focuses on tolerance development and the role of psychosocial and product factors by analyzing longitudinal data from the International Tobacco Control Policy Evaluation Project (ITC).DiscussionThe present study offers a chosen mix of three methodological approaches, thereby comprehensively examining core symptoms of positive and negative reinforcement in addiction. Whether e-cigarettes are as reinforcing and addictive as combustible tobacco cigarettes is an important public health issue with implications for prevention and treatment programs.Trial registration:Work package I: Registered at clinicaltrials.gov/ct2/show/NCT04772014. Work package II: Registered at OSF Registries:https://osf.io/dxgya(2021, January 14).
Retina tissue validation of optical coherence tomography determined outer nuclear layer loss in FTLD-tau
Authors: Kim Benjamin J. , Lee Vivian , Lee Edward B. , Saludades Adrienne , Trojanowski John Q. , Dunaief Joshua L. , Grossman Murray , Irwin David J. 
Published: November 2021

AbstractAlzheimer’s disease (AD) is associated with inner retina (nerve fiber and ganglion cell layers) thinning. In contrast, we have seen outer retina thinning driven by photoreceptor outer nuclear layer (ONL) thinning with antemortem optical coherence tomography (OCT) among patients considered to have a frontotemporal degeneration tauopathy (FTLD-Tau). Our objective was to determine if postmortem retinal tissue from FTLD-Tau patients demonstrates ONL loss observed antemortem on OCT. Two probable FTLD-Tau patients that were deeply phenotyped by clinical and genetic testing were imaged with OCT and followed to autopsy. Postmortem brain and retinal tissue were evaluated by a neuropathologist and ocular pathologist, respectively, masked to diagnosis. OCT findings were correlated with retinal histology. The two patients had autopsy-confirmed FTLD-Tau neuropathology and had antemortem OCT measurements showing ONL thinning (66.9 μm, patient #1; 74.9 μm, patient #2) below the 95% confidence interval of normal limits (75.1–120.7 μm) in our healthy control cohort. Postmortem, retinal tissue from both patients demonstrated loss of nuclei in the ONL, matching ONL loss visualized on antemortem OCT. Nuclei counts from each area of ONL loss (2 – 3 nuclei per column) seen in patient eyes were below the 95% confidence interval (4 – 8 nuclei per column for ONL) of 3 normal control retinas analyzed at the same location. Our evaluation of retinal tissue from FTLD-Tau patients confirms ONL loss seen antemortem by OCT. Continued investigation of ONL thinning as a biomarker that may distinguish FTLD-Tau from other dementias is warranted.
IFNAR1 gene mutation may contribute to developmental stuttering in the Chinese population
Authors: Sun Yimin , Gao Yong , Zhou Yuxi , Zhou Yulong , Zhang Ying , Wang Dong , Tan Li-Hai 
Published: November 2021

Abstract
Background
Developmental stuttering is the most common form of stuttering without apparent neurogenic or psychogenic impairment. Recently, whole-exome sequencing (WES) has been suggested to be a promising approach to study Mendelian disorders.

Methods
Here, we describe an application of WES to identify a gene potentially responsible for persistent developmental stuttering (PDS) by sequencing DNA samples from 10 independent PDS families and 11 sporadic cases. Sanger sequencing was performed for verification with samples obtained from 73 additional patients with sporadic cases.

Results
We first searched for cosegregating variants/candidate genes in a Chinese family (Family 0) by sequencing DNA obtained from 3 affected members and 3 controls. Next, we sequenced DNA samples obtained from 9 additional Chinese families (Families 1-9) with stuttering to verify the identified candidate genes. Intriguingly, we found that two missense variants (Leu552Pro and Lys428Gln) of interferon-alpha/beta receptor 1 (IFNAR1) cosegregated with stuttering in three independent families (Families 0, 5 and 9). Moreover, we found two additional mutations (Gly301Glu and Pro335del) in the IFNAR1 gene in 4 patients with sporadic cases by using WES or Sanger sequencing. Further receptor mutagenesis and cell signaling studies revealed that these IFNAR1 variants may impair the activity of type I IFN signaling.

Conclusion
Our data indicate that IFNAR1 might be a potential pathogenic gene of PDS in the Chinese population.
Small signal stability enhancement of a large scale power system using a bio-inspired whale optimization algorithm
Authors: Dasu Butti , Mangipudi Sivakumar , Rayapudi Srinivasarao 
Published: November 2021

AbstractA whale optimization algorithm (WOA)-based power system stabilizer (PSS) design methodology on modified single machine infinite bus (MSMIB) and multi-machine systems to enhance the small-signal stability (SSS) of the power system is presented. The PSS design methodology is implemented using an eigenvalue (EV)-based objective function. The performance of the WOA is tested with several CEC14 and CEC17 test functions to investigate its potential in optimizing the complex mathematical equations. The New England 10-generator 39-bus system and the MSMIB system operating at various loading conditions are considered as the test systems to examine the proposed method. Extensive simulation results are obtained which validate the effectiveness of the proposed WOA method when compared with other algorithms.
Comparison between PI-DTC-SPWM and fuzzy logic for a sensorless asynchronous motor drive
Authors: El Daoudi Soukaina , Lazrak Loubna 
Published: November 2021

AbstractCurrently, asynchronous cage motors are among the most commonly requested machines accentuated by their extension to the field of electric vehicles. Therefore, the development of robust and sophisticated controls for this machine is of significant interest. Artificial intelligence control techniques, such as fuzzy logic, are at the forefront of recent research. However, their design becomes much more complicated for a motor via a multilevel inverter. The main purpose of this paper is to show that it is possible to achieve fuzzy logic control of a squirrel cage asynchronous motor supplied via the usual two-level inverter. This is achieved, by adopting a DTC strategy based on a sinusoidal PWM with multilevel inverter. It employs a feedback information estimator with dual structure between the sliding mode observer at low speed and the model reference adaptive system in sliding mode at high speed. For both installations, speed is regulated using a sliding mode controller.
Morphological and histopathological studies of Thelandros chalcidae (Oxyuroidea: Pharyngodonidae) infecting Chalcides ocellatus from Egypt
Authors: Fol Mona F. , Mostafa Nesma A. 
Published: November 2021

Abstract
Background
Thelandros (Pharyngodonidae) is a gastrointestinal nematode parasite with a life cycle including lizards as main hosts. Thelandros chalcidae collected from the large intestine of the Egyptian ocellated skink, Chalcides ocellatus were described and illustrated by light and scanning electron microscopes. Seven out of fifteen (46.66%) of the examined lizards were found to be naturally infected. Also, host intestinal tissues were evaluated from hematoxylin/eosin-stained sections to describe any histopathological changes.

Results
Microscopic examinations revealed that the recovered pharyngodonid species characterized by mouth with triangular opening and surrounded by six simple lips, the cuticle had regular transverse annulations extending from the posterior margin of the lips to the end of the body. Male was cylindrical with distinct truncated posterior end and measured 1.59–1.86 (1.64 ± 0.10) long and 0.29–0.37 (0.32 ± 0.01) in maximum width at the level of mid-body. Female measured 1.72–2.43 (1.85 ± 0.2) long and 0.36–0.49 (0.42 ± 0.01) maximum width at the mid-body level, terminated posteriorly in a short, stout spike. Histological studies observed structural alterations represented by leukocytic infiltration, villi atrophy, and muscularis degeneration. These changes were indicative of inflammatory and degenerative reaction due to Thelandros chalcidae infection.

Conclusion
The present morphological study revealed that the recovered pharyngodonid species was Thelandros chalcidae causing pathological alterations in Chalcides ocellatus intestinal tissues.
Exploratory and confirmatory molecular approaches to determine genetically modified status in different crops
Authors: Oraby Hanaa Abdel-Sadek , Aboul-Maaty Nadia Aboul-Ftooh , Al-Sharawi Hayam Ahmad 
Published: November 2021

Abstract
Background
One of the parameters required for the assessment of food and feed safety is detection and identification of genetically modified organisms. Legislation in some countries necessitates detection and quantification of modification in food and feed samples. Scientists have raised concern about safety of antibiotic resistance marker (ARM) genes used for transformation of crops intended for human and animal consumption. In the present work two molecular approaches have been adopted: one exploratory; for detection and quantification of ARM genes in tested plant samples and the other confirmatory; to determine the specificity/reliability of the obtained results.

Results
Results revealed that primers for neomycin phosphotransferase (nptII) and aminoglycoside 3″ adenyl-transferase (aadA) were amplified in the majority of the 36 DNA screened samples. Melting curve analysis using hygromycin phosphotransferase (aphIV) gene as target sequence for the fluorescent-based detection approach was performed to ensure reliability and specificity of this procedure and to confirm results obtained by using conventional polymerase chain reaction (PCR). Quantitative RT-PCR results and validation analysis followed, revealed that all of the tested DNA samples were not violating the European legislation for GMOs labeling (0.9%).

Conclusions
The results fully demonstrated the reproducibility, sensitivity/specificity of the adopted approaches for detection and quantification of even traces of GMO contents. Applying measurement uncertainty (MU) procedures presented in this work will help decision makers to ensure compliance with International Legislation and Regulations. This in its turn will facilitate and enhance trading with countries having compelling labeling regulations.
Stigmasterol and β-Sitosterol: Antimicrobial Compounds in the Leaves of Icacina trichantha identified by GC–MS
Authors: Alawode Taye Temitope , Lajide Labunmi , Olaleye Mary , Owolabi Bodunde 
Published: November 2021

Abstract
Background
The development of resistance to many antibiotics currently in use has necessitated the search for more effective alternatives. Plants have been used in ethnomedicine in different parts of the world to treat various diseases. Many studies on plants have confirmed their medicinal potentials and have led to the isolation and characterization of several potential drug candidates. This study investigates the leaves of Icacina trichantha for antimicrobial properties and seeks to identify the compounds responsible for the observed activities. The leaves of Icacina trichantha are used in ethnomedicine for the treatment of skin infections. In this study, a solvent-based fractionation of bioactive compounds in the leaves of Icacina trichantha was carried out using hexane, ethyl acetate, and methanol. The resultant extracts were screened for antimicrobial activity against six bacteria and four fungi using standard procedures. GC–MS analysis of the most active fraction was carried out.

Results
The non-polar fraction (hexane) showed better antimicrobial activity than the ethyl acetate and methanol extracts. At 200 mg/mL, the fraction showed inhibition of 28.0 ± 0.82, 23.7 ± 0.47, and 24.6 ± 0.94 against Staphylococcus aureus, Escherichia coli, and Bacillus subtilis,, respectively. At the same concentration, the extract showed zones of inhibition of 18.0 ± 0.82 against Candida albicans and Penicillium notatum. The lowest Minimum Inhibitory Concentrations (MIC) values of 2.5 mg/mL were obtained against Staphylococcus aureus, Escherichia coli, and Bacillus subtilis. GC–MS analysis of the hexane extract revealed 62 peaks, out of which ten peaks were successfully characterized.

Conclusions
None of the extracts screened for antibacterial and antifungal activities in this study is as potent as the standard drugs, Gentamicin and Tioconazole. The hexane extract, however, showed some activity against the microorganisms and was analyzed using GC–MS. The hexane extract contained many bioactive compounds, some of which could not be identified. Two of the identified compounds, Stigmasterol and β-Sitosterol, are known to possess antimicrobial properties. However, the unidentified compounds could also have contributed significantly to the antimicrobial activities of the extract.
Systematic kinetic study of magnesium production using magnesium oxide and carbonic materials at different temperatures
Authors: Zahedi Hamid , Farzi Nahid , Golestani Nasser 
Published: November 2021

AbstractThe main goal of this study was to determine the industrially best reductant for reduction of magnesium oxide to magnesium with wood charcoal and petroleum coke (petcoke) each in molar ratio 1:1 and 1:2 (oxidant:reductant) at high temperatures. In this study, a new and reliable combination of mathematical modeling and discrete numerical optimization theory by presenting 18 “mathematical filters” not relying only on statistical quantities of fitting (contrary to many similar researches) was introduced. The purpose of these filters was the determination of correct kinetic equation and therefore, the corresponding rate coefficient from among 18 equations most used at present in the challenging field of solid state chemical kinetics. With assistance of a new and fundamental mathematical function and the obtained values of rate coefficients, the function of rate coefficient in temperature was attained. The activation energy was then calculated as a function of temperature using the general definition of activation energy and the determined function for rate coefficient. The comparison between different reducing agents in the different conditions and with relevant previous study was accomplished to determine the best reducing agent from industry standpoint. Also, the areas under experimental data were calculated numerically and utilized for method validation and comparison. It turned out finally that relying only on fitting quantities in the solid state chemical kinetics canreadilylead towrongconclusions about the correct kinetic equation and about the most suitable reducing agent. It is obvious that the erroneous calculations and wrong decisions in the laboratory scale become significant and paramount in industry and this reveals the significance of rigorous mathematical analysis.Graphical abstract