bluuebunny/crossref_metadata_2025 huggingface dataset:
Superior Acetone Selectivity in Gas Mixtures by Catalyst‐Filtered Chemoresistive Sensors
Authors: Weber Ines C. , Braun Hugo P. , Krumeich Frank , Güntner Andreas T. , Pratsinis Sotiris E.
Published: August 2020

Acetone is a toxic air pollutant and a key breath marker for non‐invasively monitoring fat metabolism. Its routine detection in realistic gas mixtures (i.e., human breath and indoor air), however, is challenging, as low‐cost acetone sensors suffer from insufficient selectivity. Here, a compact detector for acetone sensing is introduced, having unprecedented selectivity (>250) over the most challenging interferants (e.g., alcohols, aldehydes, aromatics, isoprene, ammonia, H2, and CO). That way, acetone is quantified with fast response (<1 min) down to, at least, 50 parts per billion (ppb) in gas mixtures with such interferants having up to two orders of magnitude higher concentration than acetone at realistic relative humidities (RH = 30–90%). The detector consists of a catalytic packed bed (30 mg) of flame‐made Al2O3 nanoparticles (120 m2 g−1) decorated with Pt nanoclusters (average size 9 nm) and a highly sensitive chemo‐resistive sensor made by flame aerosol deposition and in situ annealing of nanostructured Si‐doped ε‐WO3 (Si/WO3). Most importantly, the catalytic packed bed converts interferants continuously enabling highly selective acetone sensing even in the exhaled breath of a volunteer. The detector exhibits stable performance over, at least, 145 days at 90% RH, as validated by mass spectrometry.
The Coppery Age: Copper (Cu)‐Involved Nanotheranostics
Authors: Dong Caihong , Feng Wei , Xu Wenwen , Yu Luodan , Xiang Huiijng , Chen Yu , Zhou Jianqiao
Published: August 2020

As an essential trace element in the human body, transitional metal copper (Cu) ions are the bioactive components within the body featuring dedicated biological effects such as promoting angiogenesis and influencing lipid/glucose metabolism. The recent substantial advances of nanotechnology and nanomedicine promote the emerging of distinctive Cu‐involved biomaterial nanoplatforms with intriguing theranostic performances in biomedicine, which are originated from the biological effects of Cu species and the physiochemical attributes of Cu‐composed nanoparticles. Based on the very‐recent significant progresses of Cu‐involved nanotheranostics, this work highlights and discusses the principles, progresses, and prospects on the elaborate design and rational construction of Cu‐composed functional nanoplatforms for a diverse array of biomedical applications, including photonic nanomedicine, catalytic nanotherapeutics, antibacteria, accelerated tissue regeneration, and bioimaging. The engineering of Cu‐based nanocomposites for synergistic nanotherapeutics is also exemplified, followed by revealing their intrinsic biological effects and biosafety for revolutionizing their clinical translation. Finally, the underlying critical concerns, unresolved hurdles, and future prospects on their clinical uses are analyzed and an outlook is provided. By entering the “Copper Age,” these Cu‐involved nanotherapeutic modalities are expected to find more broad biomedical applications in preclinical and clinical phases, despite the current research and developments still being in infancy.
Enhancement of Energy Transfer Efficiency with Structural Control of Multichromophore Light‐Harvesting Assembly
Authors: Oh Inhwan , Lee Hosoowi , Kim Tae Wu , Kim Chang Woo , Jun Sunhong , Kim Changwon , Choi Eun Hyuk , Rhee Young Min , Kim Jeongho , Jang Woo‐Dong , Ihee Hyotcherl
Published: August 2020

Multichromophore systems (MCSs) are envisioned as building blocks of molecular optoelectronic devices. While it is important to understand the characteristics of energy transfer in MCSs, the effect of multiple donors on energy transfer has not been understood completely, mainly due to the lack of a platform to investigate such an effect systematically. Here, a systematic study on how the number of donors (nD) and interchromophore distances affect the efficiency of energy transfer (ηFRET) is presented. Specifically, ηFRET is calculated for a series of model MCSs using simulations, a series of multiporphyrin dendrimers with systematic variation of nD and interdonor distances is synthesized, and ηFRETs of those dendrimers using transient absorption spectroscopy are measured. The simulations predict ηFRET in the multiporphyrin dendrimers well. In particular, it is found that ηFRET is enhanced by donor‐to‐donor energy transfer only when structural heterogeneity exists in an MCS, and the relationships between the ηFRET enhancement and the structural parameters of the MCS are revealed.
Patterning 2D Organic Crystalline Semiconductors via Thermally Induced Self‐Assembly
Authors: Duan Yiwei , Qian Jun , Guo Jianhang , Jiang Sai , Yang Chengdong , Wang Hengyuan , Wang Qijing , Shi Yi , Li Yun
Published: August 2020

Fabricating 2D organic crystalline semiconductors (2DOCSs) in a patterned structure is an essential prerequisite for application toward large‐scale and high‐throughput manufacturing integrated devices. However, the deposition of 2DOCS arrays with structural perfection and thickness control through suitable solution‐based techniques remains challenging. Here, a promising patterning technique is proposed for high‐quality 2DOCS arrays with centimeter‐scale size and tunable molecular layer number via thermally induced self‐assembly (TISA). The achieved 2DOCS arrays exhibit superior carrier mobility and reliable performance uniformity. Field‐effect transistors yield maximum and average carrier mobilities of 13.40 and 9.21 cm2 V−1 s−1, respectively. Furthermore, constructed vertical molecular heterostructure‐based planar diode arrays exhibit high electrical rectification (rectifying ratio of ≈104), gate tunability, and fast photoresponse speed. Therefore, the work paves the way toward rational design and construction of organic device arrays for high‐performance organic integrated circuits.
Maskless Formation of Conductive Carbon Layer on Leather for Highly Sensitive Flexible Strain Sensors
Authors: Wang Ziyang , Chen Bo , Sun Shibin , Pan Likun , Gao Yang
Published: August 2020

Development of strain sensors on flexible and breathable leather or textile has potential applications in Internet of Things, human–machine interfaces, and motion detection. Nevertheless, the fabrication of strain sensors with high performance on the above substrates in a maskless, scalable, and highly efficient manner is still a challenge. In this study, highly sensitive strain sensors are mask‐freely fabricated on leather by a highly efficient and scalable laser direct writing (LDW) technique in open air without using any additional precursors. The strain sensors are constructed by the carbon flake synthesized by LDW carbonization of collagen fibers in the leather. The LDW carbonized leather‐based device provides maximum sensitivities of ≈2009.5 and ≈50.9 for tension and compression strain detection, respectively. Additionally, the device has a minimum detection strain of 0.005% and a good mechanical stability over 10 000 bending cycles. The high performance of the flexible strain sensors as well as the developed maskless, scalable and highly efficient LDW technique endows the promising applications of the devices in human motion monitoring and external stimuli detection.
Cover crop biomass production across establishment methods in mid‐Atlantic corn
Authors: Moore Virginia M. , Mirsky Steven B.
Published: August 2020

Drill‐interseeding, broadcast‐interseeding, and post‐harvest drilling for establishment of overwintering cover crops after no‐till corn (Zea mays L.) each present distinct challenges and benefits. Experiments were conducted at the Beltsville Agricultural Research Center (Beltsville, MD) across three growing seasons (2013–2014, 2014–2015, 2015–2016) to evaluate the relative performance of these three establishment methods across four cover crop treatments: (a) cereal rye (Secale cereale L.), (b) annual ryegrass [Lolium perenne L. ssp. multiflorum (Lam.) Husnot], (c) a legume mixture including red clover (Trifolium pratense L.), crimson clover (Trifolium incarnatum L.), and hairy vetch (Vicia villosa Roth), and (d) a grass–legume mixture including annual ryegrass, red clover, crimson clover, and hairy vetch. Both fall and spring biomass showed a significant three‐way interaction effect among cover crop, establishment method, and year. Cereal rye had the greatest biomass with late post‐harvest drilling but produced less fall and spring biomass than other cover crops in the drill‐interseeded treatments in two of the three growing seasons. The drill‐interseeded legume mixture produced less spring biomass than annual ryegrass and the grass–legume mixture when established at a later corn growth stage. Our results highlight potential pitfalls of each establishment method and cover crop, depending on annual variability in weather and management.
Growth stages and developmental patterns of guar
Authors: Adams Curtis B. , Boote Kenneth J. , Shrestha Rajan , MacMillan Jennifer , Hinson Philip O. , Trostle Calvin
Published: August 2020

Guar [Cyamopsis tetragonoloba (L.) Taub.], also known as clusterbean, is a crop plant grown in semi‐arid regions worldwide for the galactomannan gum of its seed, and as a forage, vegetable, and green manure. Despite the importance of guar and its products, uniform growth stage descriptions have not been established for the crop. Such descriptions allow for improved documentation and communication of the growth and phenological development of crops by researchers, producers, and others. Following models of other warm‐season, indeterminant‐growth legumes, such a system was developed for guar based on visually observable and sequential vegetative (V) and reproductive (R) plant events. The system was evaluated in two locations in dryland and irrigated conditions, using three morphologically contrasting guar varieties. The V stages begin with emergence (VE) and then are determined by counting the nodes on the main stem of the plant, with the cotyledonary node as zero [V0 to V(N)]. The R stages include R1 (First Flower), R2 (First Pod), R3 (First Seed or Full Pod), R4 (Full Seed), R5 (First Maturity), R6 (50% Maturity), and R7 (Harvest Maturity). The V and R stages may be reported alone or concurrently and applied at plant or crop scales. The stage descriptions apply to all growth morphologies of guar (i.e., branched and non‐branched) and accommodate the indeterminant growth habit of the plant. Season‐long data is reported from field studies on crop V and R stage progression, as well as data on crop growth, including biomass component partitioning, productivity, and canopy development.
Reaction norms‐based approach applied to optimizing recommendations of cotton genotypes
Authors: Peixoto Marco Antônio , Coelho Igor Ferreira , Evangelista Jeniffer Santana Pinto Coelho , Alves Rodrigo Silva , Rocha João Romero do Amaral Santos de Carvalho , Farias Francisco José Correa , Carvalho Luiz Paulo , Teodoro Paulo Eduardo , Bhering Leonardo Lopes
Published: August 2020

Reaction norms fitted through random regression models (RRM) have been widely used in animal and plant breeding for analyses of genotype × environment (G × E) interaction. However, in annual crops, they remain unexplored. Thus, this study aimed to evaluate the applicability and efficiency of RRM fitted through Legendre polynomials as a tool to recommend cotton (Gossypium hirsutum L.) genotypes. To this end, a data set with 12 genotypes of cotton evaluated in 10 environments for fiber length (FL) and fiber fineness was used. The restricted maximum likelihood/best linear unbiased prediction (REML/BLUP) procedure was used to estimate the variance components and to predict the genetic values. Results showed that there was genetic variability among cotton genotypes and that the reaction norms over the environmental gradient illustrated the G × E interaction. Very high selective accuracies () were found for both traits in all environments, which indicates high reliability in the genotype's recommendation. The areas under the reaction norms were calculated for the recommendation of genotypes for unfavorable, favorable, and overall environments. Regarding genotypes recommendation, areas under reaction norms allow recommending genotypes for unfavorable and favorable environments, as well as for overall recommendation, for both traits. This study is the first considering reaction norms fitted through RRM for the recommendation of cotton genotypes and demonstrated the potential of this technique in cotton breeding, besides its great potential to deal with G × E interactions.
How Far Have we Come? An Integrative Review of the Current Literature on Sense of Community and Well‐being
Authors: Stewart Katricia , Townley Greg
Published: August 2020

Sense of community and well‐being are considered core tenets in the field of community psychology, acting as focal points for theory, research, and action. This integrative review synthesizes the empirical literature on sense of community and well‐being with respect to four research questions focused on the relationships between these variables, the methodologies used to study those relationships, and how future research might expand upon the current literature. A search of the available literature produced 30 articles that met the search criteria, based primarily on conceptualizations and measurement of both sense of community and hedonic and eudaimonic well‐being. This review suggests a general consensus across the literature of a positive relationship between sense of community and well‐being among both youth and adults in a variety of settings, and discusses the strengths and limitations of this area of research, pointing to the need for more nuanced, ecologically valid research that incorporates more qualitative and critical methodologies. We hope that this review can promote a more thorough understanding of how sense of community and individual well‐being relate to each other, and that ongoing research in this area can be a catalyst for action research and interventions that are applied to pressing contemporary issues as well as strengths‐based approaches focused on how to foster and support the well‐being of individuals within their community contexts.
C3 inhibition with pegcetacoplan in subjects with paroxysmal nocturnal hemoglobinuria treated with eculizumab
Authors: de Castro Carlos , Grossi Federico , Weitz Ilene Ceil , Maciejewski Jaroslaw , Sharma Vivek , Roman Eloy , Brodsky Robert A. , Tan Lisa , Di Casoli Carl , El Mehdi Delphine , Deschatelets Pascal , Francois Cedric
Published: August 2020

Paroxysmal nocturnal hemoglobinuria (PNH) is an acquired, life‐threatening hematologic disease characterized by chronic complement‐mediated hemolysis and thrombosis. Despite treatment with eculizumab, a C5 inhibitor, 72% of individuals remain anemic. Pegcetacoplan (APL‐2), a PEGylated C3 inhibitor, has the potential to provide more complete hemolysis control in patients with PNH. This open‐label, phase Ib study was designed to assess the safety, tolerability, and pharmacokinetics of pegcetacoplan in subjects with PNH who remained anemic during treatment with eculizumab. Pharmacodynamic endpoints were also assessed as an exploratory objective of this study. Data are presented for six subjects in cohort 4 who received treatment for up to 2 years. In total, 427 treatment‐emergent adverse events (TEAEs) were reported, 68 of which were possibly related to the study drug. Eight serious TEAEs occurred in two subjects; three of these events were considered possibly related to the study drug. Pegcetacoplan pharmacokinetic concentrations accumulated with repeated dosing, and steady state was reached at approximately 6‐8 weeks. Lactate dehydrogenase levels were well controlled by eculizumab at baseline. Pegcetacoplan increased hemoglobin levels and decreased both reticulocyte count and total bilirubin in all six subjects. Improvements were observed in Functional Assessment of Chronic Illness Therapy Fatigue scores. Two subjects discontinued for reasons unrelated to pegcetacoplan. All four subjects who completed the study transitioned to pegcetacoplan monotherapy following eculizumab discontinuation and avoided transfusions. In this small study, pegcetacoplan therapy was generally well‐tolerated, and resulted in an improved hematological response by achieving broad hemolysis control, enabling eculizumab discontinuation.
Thrombosis in COVID‐19
Authors: Hanff Thomas C. , Mohareb Amir M. , Giri Jay , Cohen Jordana B. , Chirinos Julio A.
Published: August 2020

Thrombotic complications are frequent in COVID‐19 and contribute significantly to mortality and morbidity. We review several mechanisms of hypercoagulability in sepsis that may be upregulated in COVID‐19. These include immune‐mediated thrombotic mechanisms, complement activation, macrophage activation syndrome, antiphospholipid antibody syndrome, hyperferritinemia, and renin‐angiotensin system dysregulation. We highlight biomarkers within each pathway with potential prognostic value in COVID‐19. Lastly, recent observational studies have evaluated a role for the expanded use of therapeutic anticoagulation in COVID‐19. We review strengths and weaknesses of these studies, and we also discuss the hypothetical benefit and anticipated challenges of fibrinolytic therapy in COVID‐19.
NK cell alloreactivity in acute myeloid leukemia in the post‐transplant cyclophosphamide era
Authors: Van Elssen Catharina H. M. J. , Ciurea Stefan O.
Published: August 2020

Allogeneic hematopoietic stem cell transplantation (alloSCT) for myeloid leukemia remains one of the most effective anti‐tumor treatments available, capable of curing an increasingly higher proportion of patients. Alloreactivity generated by T cells has limited efficacy in the early post‐transplant period while most patients will relapse within 6 months after transplantation. Prior studies in T cell depleted grafts showed that, with the elimination of T cells, natural killer (NK) cells provide most of the anti‐tumor effect in the early post‐transplant period. Administration of unmodified T cells to mitigate infections and relapse will expose the patient to a high risk of graft‐vs‐host disease (GvHD). Post‐transplant cyclophosphamide (PTCy), initially used for haploidentical (haplo) donor transplants, is now also increasingly utilized in HLA matched donor transplants to prevent GvHD. In most patients, PTCy eliminates, at least in part, alloreactive T and NK cells early post‐transplant. Administration of modified NK cells in the early post‐transplant period makes intuitive sense to enhance the anti‐tumor effect of the graft and thereby prevent relapse. Effective application of cellular therapy early after transplant has opened a new direction and could revolutionize the field of hematopoietic stem cell transplantation.
Trichothiodystrophy type 4 in an Indian family
Authors: Pande Shruti , Shukla Anju , Girisha Katta Mohan
Published: August 2020

Trichothiodystrophy, non‐photosensitive type 4 (TTD4), is a rare genetic disorder with an autosomal recessive mode of inheritance. It is characterized by coarse and brittle hair, anomalies of the tissues derived from the neuro‐ectoderm (skin, hair, and nails) and intellectual disability. We herein report two male siblings aged 13 and 16 years with TTD4 and a known homozygous pathogenic variant, c.229del [p.(Arg77Glyfs*76)] in exon 1 of MPLKIP (NM_138701.3). We herein highlight the clinical and molecular findings of the first reported case of TTD4 in probands of Indian ethnicity.
Bilateral polymicrogyria associated with dystonia: A new neurogenetic syndrome?
Authors: Andelman‐Gur Michal M. , Leventer Richard J , Hujirat Mohammad , Ganos Christos , Yosovich Keren , Carmi Nirit , Lev Dorit , Nissenkorn Andreea , Dobyns William B. , Bhatia Kailash , Lerman‐Sagie Tally , Blumkin Lubov
Published: August 2020

The clinical presentation of bilateral perisylvian polymicrogyria (PMG) is highly variable, including oromotor dysfunction, epilepsy, intellectual disability, and pyramidal signs. Extrapyramidal features are extremely rare. We present four apparently unrelated patients with a unique association of PMG with dystonia. The clinical, genetic, and radiologic features are described and possible mechanisms of dystonia are discussed. All patients were female and two were born to consanguineous families. All presented with early childhood onset dystonia. Other neurologic symptoms and signs classically seen in bilateral perisylvian PMG were observed, including oromotor dysfunction and speech abnormalities ranging from dysarthria to anarthria (4/4), pyramidal signs (3/4), hypotonia (3/4), postnatal microcephaly (1/4), and seizures (1/4). Neuroimaging showed a unique pattern of bilateral PMG with an infolded cortex originating primarily from the perisylvian region in three out of four patients. Whole exome sequencing was performed in two out of four patients and did not reveal pathogenic variants in known genes for cortical malformations or movement disorders. The dystonia seen in our patients is not described in bilateral PMG and suggests an underlying mechanism of impaired connectivity within the motor network or compromised cortical inhibition. The association of bilateral PMG with dystonia in our patients may represent a new neurogenetic disorder.
Missense variants in the spectrin repeat domain of DSP are associated with arrhythmogenic cardiomyopathy: A family report and systematic review
Authors: Grondin Steffany , Wazirian Avedis‐Christ , Jorda Paloma , Terrone Donato G. , Gagnon Johannie , Robb Laura , Amyot Julie , Rivard Lena , Pagé Sylvain , Talajic Mario , Cadrin‐Tourigny Julia , Tadros Rafik
Published: August 2020

Rare loss of function variants in DSP, which codes for the desmosomal protein desmoplakin, have been implicated in dilated and arrhythmogenic right ventricular cardiomyopathies. We present a family with arrhythmogenic cardiomyopathy associated with a novel missense variant in DSP (NM_004415.4): c.877G>A, p.(Glu293Lys). The phenotype is characterized by predominant involvement of the left ventricle with systolic dysfunction, fibrosis, and life‐threatening arrhythmias. We performed a systematic review of literature collecting all cardiomyopathy cases with rare missense variants in DSP. We demonstrate that the distribution of missense variants across the protein domains in cardiomyopathy cases differs from that in gnomAD (p = .04), with a case enrichment of rare missense variants in the spectrin repeat domain (36/78 [46%] in cases vs. 449/1495 [30%] in gnomAD; p = .004). Our findings highlight the predominance of cardiac arrhythmia and left ventricular involvement in desmoplakin cardiomyopathy and pinpoint to a potential mutation hotspot in DSP thereby facilitating missense variant interpretation in the diagnostic setting.
Why does age of onset predict clinical severity in schizophrenia? A multiplex extended pedigree study
Authors: Musket Christie W. , Kuo Susan S. , Rupert Petra E. , Almasy Laura , Gur Ruben C. , Prasad Konasale , Wood Joel , Roalf David R. , Gur Raquel E. , Nimgaonkar Vishwajit L. , Pogue‐Geile Michael F.
Published: August 2020

Schizophrenia has substantial variation in symptom severity, course of illness, and overall functioning. Earlier age of onset (AOO) is consistently associated with negative outcomes and yet the causes of this association are still unknown. We used a multiplex, extended pedigree design (total N = 771; 636 relatives from 43 multigenerational families with at least 2 relatives diagnosed with schizophrenia and 135 matched controls) to examine among the schizophrenia relatives (N = 103) the relationship between AOO and negative and positive symptom severity, cognition, and community functioning. Most importantly, we assessed whether there are shared genetic effects between AOO and negative symptoms, positive symptoms, cognition, and community functioning. As expected, earlier AOO was significantly correlated with increased severity of negative and positive symptoms and poorer cognition and community functioning among schizophrenia patients. Notably, the genetic correlation between AOO of schizophrenia and negative symptoms was significant (Rg = −1.00, p = .007). Although the genetic correlations between AOO and positive symptoms, cognition, and community functioning were estimated at maximum and in the predicted direction, they were not statistically significant. AOO of schizophrenia itself was modestly heritable, although not significant and negative symptoms, positive symptoms, and cognition were all strongly and significantly heritable. In sum, we replicated prior findings indicating that earlier AOO is associated with increased symptom severity and extended the literature by detecting shared genetic effects between AOO and negative symptoms, suggestive of pleiotropy.
De novo STXBP1 mutation in a child with developmental delay and spasticity reveals a major structural alteration in the interface with syntaxin 1A
Authors: Banne Ehud , Falik‐Zaccai Tzipora , Brielle Esther , Kalfon Limor , Ladany Hagay , Klinger Danielle , Schneidman‐Duhovny Dina , Linial Michal
Published: August 2020

STXBP1, also known as Munc‐18, is a master regulator of neurotransmitter release and synaptic function in the human brain through its direct interaction with syntaxin 1A. STXBP1 binds syntaxin 1A is an inactive conformational state. STXBP1 decreases its binding affinity to syntaxin upon phosphorylation, enabling syntaxin 1A to engage in the SNARE complex, leading to neurotransmitter release. STXBP1‐related disorders are well characterized by encephalopathy with epilepsy, and a diverse range of neurological and neurodevelopmental conditions. Through exome sequencing of a child with developmental delay, hypotonia, and spasticity, we found a novel de novo insertion mutation of three nucleotides in the STXBP1 coding region, resulting in an additional arginine after position 39 (R39dup). Inconclusive results from state‐of‐the‐art variant prediction tools mandated a structure‐based approach using molecular dynamics (MD) simulations of the STXBP1–syntaxin 1A complex. Comparison of the interaction interfaces of the wild‐type and the R39dup complexes revealed a reduced interaction surface area in the mutant, leading to destabilization of the protein complex. Moreover, the decrease in affinity toward syntaxin 1A is similar for the phosphorylated STXBP1 and the R39dup. We applied the same MD methodology to seven additional previously reported STXBP1 mutations and reveal that the stability of the STXBP1–syntaxin 1A interface correlates with the reported clinical phenotypes. This study provides a direct link between the outcome of a novel variant in STXBP1 and protein structure and dynamics. The structural change upon mutation drives an alteration in synaptic function.
Molecular and phenotypic investigation of a New Zealand cohort of childhood‐onset retinal dystrophy
Authors: Hull Sarah , Kiray Gulunay , Chiang John Pei‐Wen , Vincent Andrea L.
Published: August 2020

Inherited retinal diseases are clinically heterogeneous and are associated with nearly 300 different genes. In this retrospective, observational study of a consecutive cohort of 159 patients (134 families) with childhood‐onset (<16 years of age) retinal dystrophy, molecular investigations, and in‐depth phenotyping were performed to determine key clinical and molecular characteristics. The most common ocular phenotype was rod‐cone dystrophy in 40 patients. Leber Congenital Amaurosis, the most severe form of retinal dystrophy, was present in 10 patients, and early onset severe retinal dystrophy in 22 patients. Analysis has so far identified 131 pathogenic or likely pathogenic variants including 22 novel variants. Molecular diagnosis was achieved in 112 of 134 families (83.6%) by NGS gene panel investigation in 60 families, Sanger sequencing in 27 families, and Asper microarray in 25 families. An additional nine variants of uncertain significance were also found including three novel variants. Variants in 36 genes have been identified with the most common being ABCA4 retinopathy in 36 families. Five sporadic retinal dystrophy patients were found to have variants in dominant and X‐linked genes (CRX, RHO, RP2, and RPGR) resulting in more accurate genetic counseling of inheritance for these families. Variants in syndromic associated genes including ALMS1, SDCCAG8, and PPT1 were identified in eight families enabling directed systemic care.
Age‐related site‐specific modifications in diaphyseal structural properties of the human fibula: Furrows and cross‐sectional geometry
Authors: Chevalier Tony , Tignères Manon
Published: August 2020

Objectives

Fibular structure is related to locomotor behavior, which allows an exploration of mobility in past human populations with diaphyseal cross‐sectional geometry (CSG). However, bone structure depends on age‐related changes. Nonmechanical alterations can affect biomechanical investigations. In this study, we examined how the cortical area and the variables used as functional markers in the fibular diaphysis (i.e., CSG and furrows) change with aging. We predict classic and specific modifications, and we discuss functional interpretations based on bone structure.

Materials and methods

The sample consisted of 124 individuals of known age in whom the fibular furrow depths were measured with calipers. Microcomputed tomography (micro‐CT) scanning of 38 individuals provided CSG (e.g., cortical area, shape index, and robusticity) and fibular furrow indices. CSG was studied at five cross sections taken along the diaphysis. Linear regression analyses and age group comparisons were conducted.

Results

The cross‐sectional shape summary by fibular furrows and shape index and the total area did not change with aging; in contrast, the cortical area and the robusticity (Zp‐std) decreased with age.

Discussion

The decrease in robusticity (Zp‐std) with aging is due to the maintenance of total area, which is related to the specific mechanical environment of the fibula, and to the loss of cortical bone and not to the decrease in mechanical stress. This finding is consistent with the lower bone modeling capacity in aged individuals, which also explains the lack of significant changes in the diaphyseal shape. Thus, fibular structure in older individuals is due to a combination of early bone adaptations to stress and aging effects.
Does exposure to parasites modify relationships between diurnal cortisol and leukocytes among Honduran women?
Authors: Garcia Angela R. , Trumble Ben , Kraft Thomas S. , Murillo Sergio , Marquez Mariela , Gurven Michael , Blackwell Aaron D.
Published: August 2020

Background

Altered hypothalamic–pituitary–adrenal (HPA) function and related changes in circulating glucocorticoids have been implicated in the pathogenesis of numerous diseases that involve dysregulated immune function. Glucocorticoid hormones have both direct and indirect modulatory effects on both pro‐ and anti‐inflammatory aspects of the immune system, including granulocytic and lymphocytic leukocyte subsets. However, past findings are complicated by inconsistencies across studies in how glucocorticoids and immune markers interact and relate to disease risk. Some incongruencies are likely due to an overreliance on single‐unit (e.g., HPA or one immune marker) measures, and a failure to consider ecological exposures that may shape the base levels or correspondence between these systems. Here, we test single‐unit and diurnal measures of HPA axis and immune system interactions in a less‐industrial ecological setting with relatively high parasite loads.

Methods

In a sample of 114 Honduran women (mean age = 36 years), morning and evening blood samples were analyzed to quantify granulocytes, lymphocytes, and immunoglobulin‐E (IgE). Saliva was collected over 2 days (8 samples per woman) to measure peak cortisol, cumulative cortisol, and slope of decline. These repeated measures of saliva and venous blood were used to investigate associations between single‐point and diurnal salivary cortisol and leukocytes, under variable levels of past parasite exposure (proxied by IgE).

Results

Individuals with less of a decline in cortisol (i.e., “flatter” decline) show less of an increase in lymphocytes (2.27% increase in cells/μL/hr; 95% CI: 0.91–7.29; p = .01) across the day compared to those with steeper cortisol decline (7.5% increase in lymphocytes; 95% CI: 5.79–9.34; p < .001). IgE levels did not modify this association. Interestingly, IgE did moderate relationships between measures of cortisol and granulocytes: diurnal cortisol was positively associated with granulocytes, only in individuals with high previous exposure to parasites. There were no consistent relationships between single‐unit measures of cortisol, lymphocytes or granulocytes, regardless of past parasite exposure.

Discussion

Results demonstrate that the relationship between HPA function and immune modulation cannot be fully understood without an understanding of local disease ecology. These results highlight the importance of research that seeks to identify etiologies of disease across environmental contexts.
Gendered division of labor in a Celtic community? A comparison of sex differences in entheseal changes and long bone shape and robusticity in thepre‐Romanpopulation of Verona (Italy, third–first centuryBC)
Authors: Laffranchi Zita , Charisi Drosia , Jiménez‐Brobeil Sylvia A. , Milella Marco
Published: August 2020

Objectives

The presence of a gendered subdivision of labor has been bioarchaeologically investigated in various prehistoric and historical contexts. Little is known, however, about the type of differences in daily activities characterizing men and women among the Celtic communities of Italy. The focus of the present study is the analysis of differences in patterns of entheseal changes (ECs) and long bone shape and robusticity between sexes among the Cenomani Gauls of Seminario Vescovile (SV—Verona, Italy, third–first century BC).

Materials and Methods

The sample includes 56 adult individuals (22 females and 34 males). Presence of ECs on nine bilateral postcranial attachment sites, and values of humeral and femoral shape and robusticity indices based on external measurements were compared between sexes by means of generalized linear models and Mann–Whitney tests.

Results

Results show a lack of difference between sexes in long bone shape and robusticity, and a higher incidence of upper and, especially, lower limb ECs in males.

Discussion

These results suggest the presence of sex‐specific activities at SV mostly related to farming and differently influencing the considered variables. Also, this study suggests the relevance of a series of nonbiomechanical factors (developmental, hormonal, genetic, and methodological) when attempting biocultural reconstructions from osteoarchaeological samples.
Associations of body composition with incident dementia in older adults: Cardiovascular Health Study‐Cognition Study
Authors: Cui Chendi , Mackey Rachel H. , Shaaban C. Elizabeth , Kuller Lewis H. , Lopez Oscar L. , Sekikawa Akira
Published: August 2020

Introduction

A body of literature reported associations between late‐life general adiposity measures (eg, body mass index) and dementia. Little is known about the association of late‐life body composition with dementia risk.

Methods

We determined this association among cognitively normal participants from the Cardiovascular Health Study‐ Cognition Study. Body composition was assessed by dual‐energy x‐ray absorptiometry in 1994‐1995. Dementia was ascertained at annual follow‐up from 1998‐1999 to 2013. Associations of body composition with incident dementia were assessed by the Fine‐Gray model.

Result

Among 344 participants (mean age 78, 62.2% women), body composition was significantly different between men and women, despite similar body mass indexes (BMIs). Increased dementia risk was significantly associated with lower lean mass in men and marginally with low appendicular lean mass in women.

Discussion

Decreased lean mass was an indicator of increased dementia risk in older adults. Studies should test whether preventing lean mass loss in older adults reduces dementia risk.
Loss‐of‐Function Variants in HOPS Complex Genes VPS16 and VPS41 Cause Early Onset Dystonia Associated with Lysosomal Abnormalities
Authors: Steel Dora , Zech Michael , Zhao Chen , Barwick Katy E. S. , Burke Derek , Demailly Diane , Kumar Kishore R. , Zorzi Giovanna , Nardocci Nardo , Kaiyrzhanov Rauan , Wagner Matias , Iuso Arcangela , Berutti Riccardo , Škorvánek Matej , Necpál Ján , Davis Ryan , Wiethoff Sarah , Mankad Kshitij , Sudhakar Sniya , Ferrini Arianna , Sharma Suvasini , Kamsteeg Erik‐Jan , Tijssen Marina A. , Verschuuren Corien , van Egmond Martje E. , Flowers Joanna M. , McEntagart Meriel , Tucci Arianna , Coubes Philippe , Bustos Bernabe I. , Gonzalez‐Latapi Paulina , Tisch Stephen , Darveniza Paul , Gorman Kathleen M. , Peall Kathryn J. , Bötzel Kai , Koch Jan C. , Kmieć Tomasz , Plecko Barbara , Boesch Sylvia , Haslinger Bernhard , Jech Robert , Garavaglia Barbara , Wood Nick , Houlden Henry , Gissen Paul , Lubbe Steven J. , Sue Carolyn M. , Cif Laura , Mencacci Niccolò E. , Anderson Glenn , Kurian Manju A. , Winkelmann Juliane ,   Genomics England Research Consortium
Published: August 2020

Objectives

The majority of people with suspected genetic dystonia remain undiagnosed after maximal investigation, implying that a number of causative genes have not yet been recognized. We aimed to investigate this paucity of diagnoses.

Methods

We undertook weighted burden analysis of whole‐exome sequencing (WES) data from 138 individuals with unresolved generalized dystonia of suspected genetic etiology, followed by additional case‐finding from international databases, first for the gene implicated by the burden analysis (VPS16), and then for other functionally related genes. Electron microscopy was performed on patient‐derived cells.

Results

Analysis revealed a significant burden for VPS16 (Fisher's exact test p value, 6.9 × 109). VPS16 encodes a subunit of the homotypic fusion and vacuole protein sorting (HOPS) complex, which plays a key role in autophagosome‐lysosome fusion. A total of 18 individuals harboring heterozygous loss‐of‐function VPS16 variants, and one with a microdeletion, were identified. These individuals experienced early onset progressive dystonia with predominant cervical, bulbar, orofacial, and upper limb involvement. Some patients had a more complex phenotype with additional neuropsychiatric and/or developmental comorbidities. We also identified biallelic loss‐of‐function variants in VPS41, another HOPS‐complex encoding gene, in an individual with infantile‐onset generalized dystonia. Electron microscopy of patient‐derived lymphocytes and fibroblasts from both patients with VPS16 and VPS41 showed vacuolar abnormalities suggestive of impaired lysosomal function.

Interpretation

Our study strongly supports a role for HOPS complex dysfunction in the pathogenesis of dystonia, although variants in different subunits display different phenotypic and inheritance characteristics. ANN NEUROL 2020;88:867–877
An Infrared Metamaterial Broadband Absorber Based on a Simple Titanium Disk with High Absorption and a Tunable Spectral Absorption Band
Authors: Tang Yinhui , Meng Dejia , Liang Zhongzhu , Qin Zheng , Shi Xiaoyan , Zhang Yuhao , Xiong Ying , Fan Yandong , Yang Fuming , Zhang Lichao , Lv Jingguang , Qin Yuxin , Chen Changhong , Lai Jianjun
Published: August 2020

A metamaterial absorber is proposed that functions in the medium‐ (3–5 µm) and long‐wavelength (8–12 µm) infrared (medium‐wavelength infrared, MWIR, and long‐wavelength infrared, LWIR, respectively) regions. The proposed design, which consists of periodic cells, can be tuned to achieve single‐band or dual‐band light absorption by changing the periodicity of the structure. Each cell forming the metamaterial absorber consists of a bottom metal plate (Al), a top metal disk (Ti), and an intermediate dielectric medium (Si or ZnS) in which a metal disk (Ti) is embedded. For a period of 0.85 µm, the absorber achieves broadband absorption in the LWIR region, with an average absorption of 92.1%. Further, the absorber shows acceptable tolerance to irradiation at oblique incidence. For a period of 2 µm, a peak absorption of 99.05% is achieved in the MWIR region, thereby providing dual‐band absorption. Tuning the periodicity of the structure enhances the localized surface plasmon resonance, with the absorption mechanism explained by establishing an equivalent parallel LC circuit. The absorption properties demonstrated by the proposed metamaterial absorber are promising for thermal imaging and infrared spectroscopy.
Reactions of β‐keto sulfones with t‐butyl aluminum compounds: Reinvestigation of tri‐t‐butyl aluminum synthesis
Authors: Wojciechowski Tomasz , Ochal Zbigniew , Socha Paweł , Dobrzycki Łukasz , Ziemkowska Wanda
Published: August 2020

t‐Butyl derivatives play a significant role in the organometallic chemistry of group 13 metals. It was shown on the basis of reactions of t‐Bu3Al·OEt2 with [p‐RC6H4S(O)2C(H)2C(Ph) = O] (where R = CH3, Cl) β‐keto sulfones that the structure of the reaction products depends on the purity of the aluminum compound used. In the reactions, in addition to the expected complexes [p‐RC6H4S(O2)C(H) = C (Ph)‐OAl(t‐Bu)2] [where R = CH3 (2); R = Cl (4)] possessing β‐keto sulfone ligands, complexes with β‐hydroxy sulfone ligands [p‐RC6H4S(O2)C(H)2‐C (Ph)‐OAl(t‐Bu)2] [where R = CH3 (1); R = Cl (3)] were formed. Compounds 1 and 3 were the result of the hydroalumination reaction of the β‐keto sulfone ligands with t‐Bu2AlH, which is an impurity of t‐Bu3Al. These compounds are obtained, for the first time, as intermediate products in the hydrogenation reaction of β‐keto sulfones. In this work, during t‐Bu3Al·OEt2 production t‐Bu2AlH·OEt2 formed as a by‐product. Re‐examination of reaction conditions of AlCl3 with t‐BuMgCl resulted in a control of the t‐Bu2AlH·OEt2 by‐product content in t‐Bu3Al·OEt2.
A 2D cadmium metal–organic framework: Synthesis, structure and luminescence sensing for chromate, permanganate, cupric, silver and ferric
Authors: Wang Zhi‐Xiang , Tian Hai‐Xin , Li Min , Zha Miao , Li Bao‐Long , Wu Bing
Published: August 2020

A multi‐responsive Cd metal–organic framework {[Cd (ttpe)(H2O)(ip)]•4H2O•DMAC}n (1•4H2O•DMAC) was synthesized using hydrothermal method (ttpe = 1,1,2,2‐tetra(4‐(1H‐1,2,4‐triazol‐1‐yl)phenyl)ethylene, ip = isophthalate, DMAC = N,N‐dimethylacetamide), and characterized. 1 exhibits a 2D (4,4) network. The luminescent sensing experimrnts showed that 1•4H2O•DMAC as a new MOF luminescent sensor can detect Cr2O72−, CrO42−, MnO4−, Cu2+, Ag+ and Fe3+ in aqueous solution with simultaneously high efficiency and high sensitivity. The quenching constants Ksv for Cr2O72−, CrO42−, MnO4−, Cu2+, Ag+ and Fe3+ are 4.231 × 104 M−1, 2.471 × 104 M−1, 6.459 × 103 M−1, 7.617 × 103 M−1, 1.563 × 104 M−1 and 3.574 × 104 M−1, respectively. The detection limits are 0.094 μM for Cr2O72−, 0.108 μM for CrO42−, 0.346 μM for MnO4−, 0.302 μM for Cu2+, 0.221 μM for Ag+, and 0.100 μM for Fe3+. 1•4H2O•DMAC exhibits high photocatalytic efficiency for degradation of methylene blue under visible light irradiation.
Nurses’ Perceptions of the Extent and Type of Missed Perioperative Nursing Care
Authors: Marsh Valerie , Kalisch Beatrice , McLaughlin Margaret , Nguyen Lan
Published: August 2020

Missed nursing care is a concern on inpatient hospital units but has not been adequately explored in the perioperative setting. This cross‐sectional study used results from a survey of 1,693 AORN members to investigate the amount and type of missed perioperative nursing care and evaluate associations between reported missed care and facility and nurse characteristics. The survey asked OR nurses how frequently specific care items were missed by themselves or others. Overall, nurses’ perceptions of the frequency of missed care was 0.84 on a scale of 0 to 4 (0 = never, 4 = always). The survey items were categorized into five subscales: legal requirement, preparation, safety, communication, and closing routine. Nurses reported most missed care in the communication and preparation categories. The number of ORs at a facility, nurse education and job title, and perceptions of staffing adequacy were significantly associated with the perceived amount of missed perioperative nursing care.
Clinical Issues—September 2020
Authors: Jones Emily , Wood Amber
Published: August 2020

THIS MONTH

Surgical counts during a partial cystectomy

Key words: partial cystectomy, retained surgical item (RSI), counts, bladder, guidewire.

Preparing the OR for patients who require both airborne and contact precautions

Key words: airborne precautions, contact precautions, contamination, Coronavirus Disease 2019 (COVID‐19), negative pressure.

Preoperative transport of patients who require both airborne and contact precautions

Key words: preoperative patient transport, hand hygiene, personal protective equipment (PPE), N95 respirator, Coronavirus Disease 2019 (COVID‐19).

Postoperative transport of patients who require both airborne and contact precautions

Key words: postoperative patient transport, hand hygiene, personal protective equipment (PPE), N95 respirator, Coronavirus Disease 2019 (COVID‐19).
Feasibility study of water as thinner for polyvinyl chloride plastisol
Authors: Yang Yunxu , Shi Kunxiang , Zhou Mingzhu , Shen Yucai , Wang Tingwei
Published: August 2020

In the traditional formula of polyvinyl chloride (PVC) gloves, the diluent of PVC plastisol is usually organic solvent, which causes serious environmental pollution during the molding process. The aim of this study was to develop a low viscosity PVC plastisol emulsion (PDE) using water as a thinner by blending PVC emulsion (PVCE) with diisononyl phthalate (DINP) emulsion. DINP emulsion (DINPE) was prepared by a compound emulsifier of polyoxyethylene octyl phenol ether‐10 and sorbitan monooleate. The effects of compound emulsifier concentration on the stability and microstructure of DINPE were investigated. The results showed that the optimal compound emulsifier concentration of DINPE was 10 wt%. In addition, the PDE obtained by blending exhibited a relatively uniform unimodal droplet size distribution. The steady state data revealed that the emulsions were shear‐thinning pseudoplastic liquid. The effect of solid content and temperature on the apparent viscosity of PDE were also evaluated. The mechanical spectra obtained suggested the presence of weak gel structure in the PDE. The mechanical test results showed that the tensile strength and elongation at break of PVC film obtained by PDE were 12.62 MPa and 310.31%, respectively. This study demonstrated that water was effective in reducing the viscosity of PVC plastisol, which would promote the application of water thinner in glove production.
Spray‐coatedPDMS/PVDFcomposite membrane for enhanced butanol recovery by pervaporation
Authors: Cheng Chi , Yang Decai , Bao Meiting , Xue Chuang
Published: August 2020

In this study, spray‐coating was used to prepare dihydroxypolydimethylsiloxane (PDMS) composite membranes with high flux and separation factor for biobutanol recovery from aqueous solution. A thin, smooth, and defect‐free PDMS layer was prepared by spray‐coating on polyvinylidene difluoride ultrafiltration membrane with little PDMS penetration. The effects of process parameters for membrane fabrication and pervaporation on membrane performance were investigated. A membrane with 2 μm active layer was obtained with a high flux of 1306.9 g/m2h. The optimal membrane with the highest pervaporation separation index (PSI) (19.15 kg/m2h) showed a total flux of 530.6 g/m2h and a separation factor of 36.1 at 37°C, and a PSI of 65.61 kg/m2h and a flux of 1927.0 g/m2h at 70°C. Membrane performance was affected by feed composition and temperature. Acetone‐butanol‐ethanol solution and fermentation broth gave lower butanol fluxes and separation factors compared to butanol model solution.