bluuebunny/crossref_metadata_2025_split huggingface dataset:
Transcobalamin II deficiency in twins with a novel variant in the TCN2 gene: case report and review of literature
Authors: Kose Engin , Besci Ozge , Gudeloglu Elif , Suncak Suzan , Oymak Yesim , Ozen Selime , Isguder Rana 
Published: August 2020

Abstract

Objectives
Transcobalamin II (TC) is an essential plasma protein for the absorption, transportation, and cellular uptake of cobalamin. TC deficiency presents in the first year of life with failure to thrive, hypotonia, lethargy, diarrhea, pallor, mucosal ulceration, anemia, pancytopenia, and agammaglobulinemia. Herein, we present TC deficiency diagnosed in two cases (twin siblings) with a novel variant in the TCN2 gene.

Case presentation
4-month-old twins were admitted with fever, respiratory distress, vomiting, diarrhea, and failure to thrive. Physical examination findings revealed developmental delay and hypotonia with no head control, and laboratory findings were severe anemia, neutropenia, and hypogammaglobulinemia. Despite normal vitamin B12 and folate levels, homocysteine and urine methylmalonic acid levels were elevated in both patients. Bone marrow examinations revealed hypocellular bone marrow in both cases. The patients had novel pathogenic homozygous c.241C>T (p.Gln81Ter) variant in the TCN2 gene. In both cases, with intramuscular hydroxycobalamin therapy, laboratory parameters improved, and a successful clinical response was achieved.

Conclusions
In infants with pancytopenia, growth retardation, gastrointestinal manifestations, and immunodeficiency, the inborn error of cobalamin metabolism should be kept in mind. Early diagnosis and treatment are crucial for better clinical outcomes. What is new? In literature, to date, less than 50 cases with TC deficiency were identified. In this report, we presented twins with TCN2 gene mutation. Both patients emphasized that early and aggressive treatment is crucial for achieving optimal outcomes. In this report, we identified a novel variation in TCN2 gene.
Role of urinary NGAL and KIM-1 as biomarkers of early kidney injury in obese prepubertal children
Authors: Polidori Nella , Giannini Cosimo , Salvatore Roberta , Pelliccia Piernicola , Parisi Adriana , Chiarelli Francesco , Mohn Angelika 
Published: August 2020

Abstract

Objectives
Childhood obesity is an important cause of end-stage renal disease. To date, available markers do not characterize kidney changes, especially in the early stages. kidney injury molecule-1 (KIM-1) and neutrophil gelatinase-associated lipocalin (NGAL) are already detected before the onset of proteinuria or alterations of glomerular filtration rate and thus might represent biomarkers that directly reflect kidney injury.

Methods
We characterize kidney injury in a group of 40 obese-prepubertal children compared to 29-healthy age- and gender matched-peers. Anthropometric measurements and body composition were determined. Fasting blood samples were collected for measurement of insulin, glucose, lipid profile, transaminases, cystatin C and creatinine. Urine samples were collected to assess urinary NGAL, KIM-1 and urinary isoprostanes. Kidney length was measured with ultrasound evaluation. Differences between the two groups were evaluated by Mann–Whitney U test, and Spearman correlation analysis was used to explore relationship between variables.

Results
Triglycerides, alanine transaminase (ALT), glucose, insulin, homeostasis model assessment insulin resistance, triglycerides/high-density lipoprotein (HDL)-cholesterol ratio and cystatin C values were significantly higher in obese children than normal weight peers. Creatinine values were normal and similar between the two groups, while isoprostanes were higher in obese. Obese children had larger kidney sizes, indicating organ hypertrophy. NGAL and KIM-1 were increased in obese children compared to controls. A significant association between NGAL and KIM-1 with adiposity indices, insulin status and markers of oxidative stress postulated a possible effect of obesity in inducing kidney abnormalities. KIM-1 and NGAL are directly related respectively to cystatin C and isoprostanes, supporting the ability of these biomarkers in reflecting early kidney damages in obese subjects.

Conclusions
These findings suggest that obese subjects exhibit a certain degree of renal damage before kidney function loss.
Mutations in PMM2 gene in four unrelated Spanish families with polycystic kidney disease and hyperinsulinemic hypoglycemia
Authors: Moreno Macián Francisca , De Mingo Alemany Carmen , León Cariñena Sara , Ortega López Pedro , Rausell Felix Dolores , Aparisi Navarro María , Martinez Matilla Marina , Cardona Gay Cristina , Martinez Castellano Francisco , Albiach Mesado Vicente 
Published: August 2020

Abstract

Objectives
Hyperinsulinemic hypoglucemia (HH) is characterized by a dysregulation of insulin secretion from pancreatic β cells. Congenital hyperinsulinism has been associated with specific genes in monogenic forms and also with other diseases with a yet unknown genetic cause. In 2017, Rubio Cabezas et al. described the association of HH and autosomal recessive polycystic kidney disease (ARPKD) with a promoter mutation in the PMM2 gene. They found that all the patients carried a promoter mutation (c-167G>T) in PMM2, either homozygous or in trans with a second PMM2 coding mutation.

Methods
We performed the study of the PMM2 gene in six patients from four unrelated families, previously diagnosed with ARPKD and HH.

Results
All these patients had in common the heterozygous variant c-167G>T in the promoter region for PMM2. Additionally, each patient carried a compound heterozygote for a second missense mutation in this gene (p.Arg141His, p.Asp148Asn or p.Phe157Ser), previously reported as pathogenic for congenital disorder of glycosylation type Ia, with an autosomal recessive inheritance pattern. Unlike the previous published article, two of our patients showed altered type 1 pattern and one of them with rectal bleeding that could be a sign of PMM2-congenital disorders of glycosylation.

Conclusion
We propose the study of this gene when carrying out the diagnosis of patients with HH, especially in the neonatal period and when a recessive polycystic kidney disease without alterations in PKDH1 is diagnosed.
Group Duties Without Decision-Making Procedures
Authors: Björnsson Gunnar 
Published: August 2020

Abstract
Stephanie Collins’ Group Duties offers interesting new arguments and brings together numerous interconnected issues that have hitherto been treated separately. My critical commentary focuses on two particularly original and central claims of the book: (1) Only groups that are united under a group-level decision-making procedure can bear duties. (2) Attributions of duties to other groups should be understood as attributions of “coordination duties” to each member of the group, duties to either take steps responsive to the others with a view to the group’s doing what is said to be its duty or to express willingness to do so. In support of the first claim, Collins argues that only groups that can make decisions can bear duties, and that the ability to make decisions requires the relevant sort of decision-making procedure. I suggest that both parts of this argument remain in need of further support. I furthermore argue that Collins’ account of coordination duties gets certain kinds of cases wrong, and suggest that attributions of duties to groups without decision-making procedures are more plausibly understood as attributing shared duties grounded in demands on the group’s members to care about the values at stake.
Stranding cases of endangered Ganges river dolphins in the Ghaghara–Sharada irrigation canals, Ganges river basin, India: conservation implications
Authors: Prajapati Shakti 
Published: August 2020

Abstract
Populations of endangered Ganges and Indus river dolphins have been under severe threat from diversion of river water by dams, barrages, and canal networks across the Indus and Ganges–Brahmaputra river basins. River dolphins prefer deep water and might enter irrigation canals in the dry-season, getting stranded there. Stranding can cause mortality and local population declines, and poses an emerging challenge to river dolphin conservation efforts. In Pakistan’s Indus river basin, stranding rates of Indus dolphins in irrigation canals are high, and well-coordinated rescue-release operations are undertaken. Despite commendable river dolphin rescue efforts in some parts of India, stranding cases are not always reported. From open-access media reports (2007–08 to 2017–18), I found 26 stranding cases of Ganges river dolphins from the Ghaghara–Sharada canal network across seven districts of Uttar Pradesh, India. Of these, 62% reports were from 2015 to 2016. Most cases occurred in secondary and tertiary canal branches. Interviews with fishers, farmers, and government officials revealed low awareness of stranding cases. Stranded dolphins might have no chance of returning to their source habitat, unless rescued. From my results, I discuss how current barrage-canal operations could influence dolphin stranding risk, and their implications for flow management in the Ghaghara–Sharada river basin.
Not a white girl and speaking English with slang: Negotiating Hmong American identities in Minneapolis-St. Paul, Minnesota, USA
Authors: Ito Rika 
Published: August 2020

Abstract
This paper analyzes metalinguistic comments of two young Hmong Americans in the Minneapolis-St Paul area regarding their identity negotiation using tactics of intersubjectivity (Bucholtz & Hall 2004a, 2004b, 2005), the notion of brought-along identity (Williams 2008) and Zhang's (2017) sociohistorical perspectives in analyzing linguistic variation. Two Hmong American individuals were selected from over 60 Hmong American interviewees because their vowel production is nearly identical to each other and that of the local white youth. Although their almost identical vowel production is viewed as their acculturation to the local white majority norm in the first- and second-wave variationist sociolinguistic perspective (Eckert 2012), their speech's characterization reveals a range of potential meanings (Eckert 2008) to index nuanced and unique positions in their local community. The young woman is ambivalent about her speech being characterized as “not having an accent” and claims that she is “not a white girl”. The teenage boy discusses his speech as “Hmonglish” and “English with slang” but carefully distances himself from quintessential African American English. While their characterization of their speech is distinct from each other, their tactics are strikingly similar. Through highlighting and downplaying differences and similarities to a locally salient way of speaking that indexes whiteness or blackness, the two Hmong Americans carve out their own complex identities of race, ethnicity, gender, and class in a local setting.
Thermoelectric nanospectroscopy for the imaging of molecular fingerprints
Authors: Ulrich Georg , Pfitzner Emanuel , Hoehl Arne , Liao Jung-Wei , Zadvorna Olga , Schweicher Guillaume , Sirringhaus Henning , Heberle Joachim , Kästner Bernd , Wunderlich Jörg , Venkateshvaran Deepak 
Published: August 2020

Abstract
We present a nanospectroscopic device platform allowing simple and spatially resolved thermoelectric detection of molecular fingerprints of soft materials. Our technique makes use of a locally generated thermal gradient converted into a thermoelectric photocurrent that is read out in the underlying device. The thermal gradient is generated by an illuminated atomic force microscope tip that localizes power absorption onto the sample surface. The detection principle is illustrated using a concept device that contains a nanostructured strip of polymethyl methacrylate (PMMA) defined by electron beam lithography. The platform’s capabilities are demonstrated through a comparison between the spectrum obtained by on-chip thermoelectric nanospectroscopy with a nano-FTIR spectrum recorded by scattering-type scanning near-field optical microscopy at the same position. The subwavelength spatial resolution is demonstrated by a spectral line scan across the edge of the PMMA layer.
Study of LCNF and CNF from pine and eucalyptus pulps
Authors: Demuner Iara Fontes , Colodette Jorge Luiz , Gomes Fernando José Borges , de Oliveira Rubens Chaves 
Published: August 2020

AbstractNanocelluloses produced from wood pulp are widely studied for various economic applications. Most studies of cellulose nanofibrils (CNF) use lignin-free fibres obtained from bleached pulps; however, unbleached fibres with residual lignin may also be used to obtain lignocelluloses nanofibrils (LCNF). Research on lignocellulose nanofibrils is a recent subject in the field; thus, the aim of the present study was to determine the ultrastructure of lignocellulose nanofibrils compared to cellulose nanofibrils produced from the same raw material. Understanding of nanoparticle properties is of great relevance for their various applications; therefore, complete characterisation of the chemical, physical, and morphological structures of LCNF and CNF produced from pine and eucalyptus woods was performed. Unbleached cellulosic fibres are a viable alternative for LCNF production, which has properties comparable to that of traditional CNF production that uses lignin-free fibres. LCNF from pine and eucalyptus were obtained with 4.0 % and 1.8 % residual lignin, respectively. The nanofibrils had high thermal stability because LCNF had a higher maximum degradation temperature. Due to the low interaction of lignin with water, LCNF had a lower water retention value than CNF.
Structure, processing and performance of ultra-high molecular weight polyethylene (IUPAC Technical Report). Part 2: crystallinity and supra molecular structure
Authors: Bucknall Clive , Altstädt Volker , Auhl Dietmar , Buckley Paul , Dijkstra Dirk , Galeski Andrzej , Gögelein Christoph , Handge Ulrich A. , He Jiasong , Liu Chen-Yang , Michler Goerg , Piorkowska Ewa , Slouf Miroslav , Vittorias Iakovos , Wu Jun Jie 
Published: August 2020

Abstract
Test methods including OM, SEM, TEM, DSC, SAXS, WAXS, and IR were used to characterise supra-molecular structure in three batches of polyethylene (PE), which had weight-average relative molar masses

M
¯

w

${\overline{M}}_{\text{w}}$

of approximately 0.6 × 106, 5 × 106, and 9 × 106. They were applied to compression mouldings made by the polymer manufacturer. Electron microscopy showed that powders formed in the polymerization reactor consisted of irregularly shaped grains between 50 and 250 μm in diameter. Higher magnification revealed that each grain was an aggregate, composed of particles between 0.4 and 0.8 μm in diameter, which were connected by long, thin fibrils. In compression mouldings, lamellar thicknesses ranged from 7 to 23 nm. Crystallinity varied between 70 and 75 % in reactor powder, but was lower in compression mouldings. Melting peak temperatures ranged from 138 to 145 °C, depending on processing history. DMTA showed that the glass transition temperature θ
g was −120 °C for all three grades of polyethylene. IR spectroscopy found negligibly small levels of oxidation and thermal degradation in mouldings. Optical microscopy revealed the presence of visible fusion defects at grain boundaries. It is concluded that relatively weak defects can be characterized using optical microscopy, but there is a need for improved methods that can detect less obvious fusion defects.
Who are Our Experts? Predictors of Participation in Expert Surveys
Authors: Steinert Christoph Valentin , Ruggeri Andrea 
Published: August 2020

AbstractWho are the colleagues participating when asked to complete expert surveys? This research note investigates which individuals’ characteristics associate with positive responses. Drawing on an expert survey dedicated to post-conflict trials, we collect data on various attributes of both respondents and non-respondents such as their age, sex, academic positions, disciplines, and research outputs. We expect that decisions to participate result from an interplay of (1) individuals’ levels of context-specific expertise, (2) the value attached to their expert role, (3) their confidence in making authoritative statements, and (4) resource constraints. Employing logistic regression models and statistical simulations (n = 414), we find that context-specific expertise is the primary, but not the only determinant of participation. On the one hand and luckily, individuals whose research corresponds closely to the object of study are most likely to participate. On the other hand and unfortunately, individuals with high citation outputs, female experts, and Area Studies-scholars are less likely to respond. Consequently, certain groups are under-represented in expert evaluations frequently considered as authoritative source of knowledge.
Rebound hypothermia after cytoreductive surgery with hyperthermic intraperitoneal chemotherapy (CRS-HIPEC) and cardiac arrest in immediate postoperative period: a report of two cases and review of literature
Authors: Solanki Sohan Lal , Jhingan Mrida A. K. , Saklani Avanish P. 
Published: August 2020

AbstractObjectivesCytoreductive surgery and hyperthermic intra-peritoneal chemotherapy (CRS-HIPEC) for peritoneal malignancies are complex surgeries marked with hemodynamic perturbations, temperature fluctuations, blood loss and metabolic disturbances in the intra-operative and post-operative period. In this report, we highlighted perioperative factors which may have led to cardiac arrest in immediate postoperative period and subsequent successful resuscitation in two patients with high volume peritoneal cancers who underwent CRS-HIPEC.Case presentationBoth patients had a similar clinical course, characterized by massive blood and fluid loss, metabolic derangement, hemodynamic instability, long duration of surgery, post HIPEC rebound hypothermia and hypokalemia which need to be anticipated.ConclusionsWe reviewed the literature related to postoperative hypothermia and other major complications after CRS-HIPEC and correlated the available literature with our findings.
Lifestyle intervention to prevent Alzheimer’s disease
Authors: Ko Yi , Chye Soi Moi 
Published: August 2020

Abstract
Alzheimer’s disease (AD) is the most common neurodegenerative disease that leads to significant morbidities in elderly. The major pathological hallmark of AD is beta-amyloid plaques (Aβ) and intracellular neurofibrillary tangles (NFTs) deposition in hippocampus of the brain. These abnormal protein deposition damages neuronal cells resulting in neurodegeneration and cognitive decline. As a result of limited treatment options available for this disease, there is huge economic burden for patients and social health care system. Thus, alternative approaches (lifestyle intervention) to prevent this disease are extremely important. In this systemic review, we summarized epidemiological evidence of lifestyle intervention and the mechanisms involved in delaying and/or preventing AD. Lifestyle interventions include education, social engagement and cognitive stimulation, smoking, exercise, depression and psychological stress, cerebrovascular disease (CVD), hypertension (HTN), dyslipidaemia, diabetes mellitus (DM), obesity and diet. The methods are based on a literature review of available sources found on the research topic in four acknowledged databases: Web of Science, Scopus, Medline and PubMed. Results of the identified original studies revealed that lifestyle interventions have significant effects and our conclusion is that combination of early lifestyle interventions can decrease the risk of developing AD.
Design and static testing of wing structure of a composite four-seater electric aircraft
Authors: Yang Kang , Guo Yi-lin , Li Dong-hui , Ma Gang , Geng Hao , Li Qun-fang , Xue Ji-jia 
Published: August 2020

Abstract
Because of its light weight, high strength, designable, composite materials are more and more widely used in the field of aerospace, especially in the field of general aviation. In this paper, the structural design and analysis of the composite wing (include wing beam, rib, skin, leading edge and trailing edge) of a four-seater electric aircraft were carried out. The finite element numerical analysis model of the composite wing was established, and the deformation and strain distribution of the composite wing under the limited load required by airworthiness regulations were calculated. Finally, the static test of the whole composite wing was carried out to verify the accuracy of the finite element results. The finite element analysis and testing results showed that the structural design of the composite wing of the electric aircraft meets the structural strength requirements specified in the airworthiness standard (part 23 of China civil aviation regulations: air-worthiness requirements for normal, practical, special effects and commuting aircraft: CCAR 23-R3)
Preoperative quantitative sensory testing and robot-assisted laparoscopic hysterectomy for endometrial cancer: can chronic postoperative pain be predicted?
Authors: Lunde Søren , Petersen Kristian Kjær , Søgaard-Andersen Erik , Arendt-Nielsen Lars 
Published: August 2020

Abstract

Objectives
Chronic postoperative pain is prevalent after robot-assisted laparoscopic hysterectomy for endometrial cancer. Preoperative Quantitative Sensory Testing (QST) has been utilized to identify patients at risk of developing chronic postoperative pain after a range of surgical procedures. The aim of this prospective, observational study was to (1) determine the prevalence of chronic postoperative pain, (2) assess selected preoperative risk factors for chronic postoperative pain, and (3) evaluate if preoperative QST profiling could predict the development of chronic postoperative pain following robot-assisted laparoscopic hysterectomy for endometrial cancer.

Methods
One-hundred and sixty consecutive patients were included and handheld pressure algometry, cuff pressure algometry, temporal summation of pain, conditioned pain modulation, and heat pain thresholds were assessed prior to surgery. Patients were asked to fill out a questionnaire concerning pain in the pre- and post-operative time period six months after surgery. Chronic postoperative pain was defined as persistent, moderate to severe pain (mean visual analogue scale (VAS)≥3) on a daily basis six months after surgery.

Results
The prevalence of chronic postoperative pain after robot-assisted laparoscopic hysterectomy for endometrial cancer was of 13.6% (95% CI 8.4–20.4%). Patients that would develop chronic postoperative pain had a lower BMI (p=0.032), a higher prevalence of preoperative pelvic pain (p<0.001), preoperative heat pain hyperalgesia (p=0.043) and a higher level of acute postoperative pain (p<0.001) when compared to patients that would not develop chronic postoperative pain. A logistic regression model demonstrated that the presence of preoperative pelvic pain was a significant, independent predictive risk factor for development of chronic postoperative pain (OR=6.62, 95% CI 2.26–19.44), whereas none of the QST parameters could predict postoperative pain.

Conclusions
Preoperative QST assessment could not predict the development of chronic postoperative pain despite preoperative heat pain hyperalgesia in patients that would develop chronic postoperative pain.
Kooperationsstrukturen von Energiegenossenschaften in Deutschland
Authors: Meister Thomas 
Published: August 2020

Zusammenfassung
Die umfangreiche Förderung der regenerativen Stromerzeugung durch das Erneuerbare-Energien-Gesetz begünstigte einen Gründungsboom von Energiegenossenschaften in Deutschland. Die Rahmenbedingungen haben sich jedoch in den letzten Jahren deutlich verschlechtert. Energiegenossenschaften sind daher gezwungen, neue und komplexere Geschäftsmodelle zu entwickeln, um im Wettbewerb zu bestehen. Kooperationen mit anderen Akteuren werden diesbezüglich als vielversprechende Strategie diskutiert. Die bisher nur exemplarisch in Fallstudien untersuchten Kooperationsstrukturen von Energiegenossenschaften in Deutschland werden in diesem Beitrag systematisch auf Basis der Ergebnisse einer standardisierten Befragung analysiert.