bluuebunny/crossref_metadata_2025 huggingface dataset:
Behavioral development in children with prenatal substance exposure and neonatal abstinence syndrome: Associated factors and implications
Authors: Miller Jennifer S. , Anderson Joel G. , Lindley Lisa C.
Published: April 2020

Problem

Prenatal substance exposure and neonatal abstinence syndrome (NAS) are risk factors for adverse behavioral outcomes in children at 24 months of age.

Methods

The purpose of this study was to examine factors associated with abnormal behavioral development in children with prenatal substance exposure or NAS through 10 years of age. A retrospective, nonexperimental, longitudinal design to examine the effects of prenatal substance exposure and NAS on behavioral development at 1, 5, and 10 years of age, while controlling for intrapersonal, interpersonal, community, organizational, and public policy characteristics. A hierarchical multivariate logistic regression model was used to evaluate the influence of substance exposure and NAS on behavioral outcomes.

Findings

Abnormal behavioral development was predicted at 10 years of age with polysubstance exposure to three substances (odds ratio [OR] = 2.711, p < 0.01) and NAS (OR = 2.077, p < .001).

Conclusion

Psychiatric nursing care for children with prenatal substance exposure and NAS should include implementation of early and continued behavioral evaluation and childhood trauma and adversity surveillance in children through middle childhood.
Implantable cardioverter‐defibrillator lead revision following left ventricular assist device implantation
Authors: Black‐Maier Eric , Lewis Robert K. , Rehorn Michael , Loungani Rahul , Friedman Daniel J. , Frazier‐Mills Camille , Jackson Kevin P. , Atwater Brett D. , Milano Carmelo A. , Schroder Jacob N. , Pokorney Sean D. , Piccini Jonathan P.
Published: April 2020

Introduction

Lead dysfunction can lead to serious consequences including failure to treat ventricular tachycardia or fibrillation (VT/VF). The incidence and mechanisms of lead dysfunction following left ventricular assist device (LVAD) implantation are not well‐described. We sought to determine the incidence, mechanisms, timing, and complications of right ventricular lead dysfunction requiring revision following LVAD implantation.

Methods

Retrospective observational chart review of all LVAD recipients with pre‐existing implantable cardioverter‐defibrillator (ICD) from 2009 to 2018 was performed including device interrogation reports, laboratory and imaging data, procedural reports, and clinical outcomes.

Results

Among 583 patients with an ICD in situ undergoing LVAD implant, the median (interquartile range) age was 62.5 (15.7) years, 21% were female, and the types of LVADs included HeartWare HVAD (26%), HeartMate II (52%), and HeartMate III (22%). Right ventricular lead revision was performed in 38 patients (6.5%) at a median (25th, 75th) of 16.4 (3.6, 29.2) months following LVAD. Mechanisms of lead dysfunction included macrodislodgement (n = 4), surgical lead injury (n = 4), recall (n = 3), insulation failure (n = 8) or conductor fracture (n = 7), and alterations in the lead‐myocardial interface (n = 12). Undersensing requiring revision occurred in 22 (58%) cases. Clinical sequelae of undersensing included failure to detect VT/VF (n = 4) and pacing‐induced torsade de pointes (n = 1). Oversensing occurred in 12 (32%) and sequelae included inappropriate antitachycardia pacing ([ATP], n = 8), inappropriate ICD shock (n = 6), and ATP‐induced VT (n = 1).

Conclusion

The incidence of right ventricular lead dysfunction following LVAD implantation is significant and has important clinical sequelae. Physicians should remain vigilant for lead dysfunction after LVAD surgery and test lead function before discharge.
Network meta‐analysis of His bundle, biventricular, or right ventricular pacing as a primary strategy for advanced atrioventricular conduction disease with normal or mildly reduced ejection fraction
Authors: Fernandes Gilson C. , Knijnik Leonardo , Lopez Juan , Rivera Manuel , Fernandes Amanda , Lambrakos Litsa K. , Myerburg Robert J. , Mitrani Raul D. , Goldberger Jeffrey J.
Published: April 2020

Introduction

Although right ventricular pacing (RVP) may impair ventricular function, it is commonly used for advanced atrioventricular block (AVB) and normal or mildly reduced ejection fraction (EF). We aimed to compare His bundle pacing (HBP), biventricular pacing (BiVP), and RVP for advanced AVB in patients with normal or mildly reduced EF.

Methods and Results

MEDLINE, Embase, Cochrane CENTRAL, ClinicalTrials.gov, Scopus, and Web of Science were searched. Outcomes were all‐cause death, heart failure hospitalizations (HFH), EF, left ventricular volumes, 6‐minute walk test, and QRS duration. HBP or BiVP was compared with RVP. Subsequently, network meta‐analysis compared the three pacing options. Our protocol was registered in PROSPERO (CRD42018094132). Six studies compared BiVP and RVP (704 vs 614 patients) and four compared HBP and RVP (463 vs 568 patients). Follow‐up was 6 months to 5 years. There was significantly lower mortality and HFH with HBP or BiVP as compared with RVP (odds ratio [OR], 0.66, [0.51‐0.85], P = .002; OR, 0.61 [0.45‐0.82], P < .001, respectively]. HBP or BiVP also showed significant increase in EF and decrease in QRS duration (mean difference [MD], 5.27 [3.86‐6.69], P < .001; MD −42.2 [−51.2 to −33.3], P < .001, respectively). In network meta‐analysis, HBP and BiVP were associated with significantly improved survival compared to RVP, with surface under the cumulative ranking curve (SUCRA) probability of 79.4%, 69.4%, and 1.2% for HBP, BiVP, and RVP, respectively. For HFH, SUCRA probability was 91.5%, 57.2%, and 1.3%, respectively.

Conclusion

HBP or BiVP were the superior strategies to reduce all‐cause death and HFH for advanced AVB with normal or mildly reduced EF, with no significant difference between BiVP and HBP.
Induction of priming by cold stress via inducible volatile cues in neighboring tea plants
Authors: Zhao Mingyue , Wang Lu , Wang Jingming , Jin Jieyang , Zhang Na , Lei Lei , Gao Ting , Jing Tingting , Zhang Shangrui , Wu Yi , Wu Bin , Hu Yunqing , Wan Xiaochun , Schwab Wilfried , Song Chuankui
Published: April 2020

Plants have evolved sophisticated defense mechanisms to overcome their sessile nature. However, if and how volatiles from cold‐stressed plants can trigger interplant communication is still unknown. Here, we provide the first evidence for interplant communication via inducible volatiles in cold stress. The volatiles, including nerolidol, geraniol, linalool, and methyl salicylate, emitted from cold‐stressed tea plants play key role(s) in priming cold tolerance of their neighbors via a C‐repeat‐binding factors‐dependent pathway. The knowledge will help us to understand how plants respond to volatile cues in cold stress and agricultural ecosystems.
Serum 25 hydroxyvitamin D levels in alopecia areata, female pattern hair loss, and male androgenetic alopecia in a Chinese population
Authors: Zhao Jun , Sheng Youyu , Dai Chunyang , Qi Sisi , Hu Ruiming , Rui Wenlong , Miao Ying , Xu Feng , Zhang Yao , Yang Qinping
Published: April 2020

Background

It has been suggested that low vitamin D levels may affect the development of hair loss.

Aims

Our aim was to evaluate the serum 25‐hydroxy vitamin D [25(OH)D] status in Chinese patients with alopecia areata (AA), female pattern hair loss (FPHL), and male androgenetic alopecia (MAGA) compared with healthy individuals.

Methods

We performed a case‐control study including 443 AA patients, 657 FPHL patients, 777 MAGA patients, and 2070 normal controls (1064 male and 1006 female healthy individuals) from 2015 to 2017 to analyze the correlation of serum 25(OH)D levels and hair loss in a Chinese population.

Results

Serum 25(OH)D levels stratified by age, sex, and season were compared between patients and healthy individuals. AA patients' serum 25(OH)D levels were statistically lower than that of controls (P < .0001, α = .05). Serum 25(OH)D levels of FPHL patients (P < .0001, α = .05) and MAGA patients (P = .0005, α = .05) were also significantly lower than counterpart control subjects.

Conclusion

Our findings suggest an association between serum 25(OH)D levels and alopecia areata, female pattern hair loss, or male androgenetic alopecia in a Chinese population.
Curvularia asianensisandCurvularia eragrostidisassociated with leaf spot ofSansevieria trifasciatain Malaysia
Authors: Kee Yee Jia , Zakaria Latiffah , Mohd Masratul Hawa
Published: April 2020

Leaf spot disease was detected onSansevieria trifasciatain Malaysia. TwoCurvulariaspecies namelyC. eragrostidisandC. asianensiswere isolated as the pathogens. The isolated fungi were identified based on morphology and multigene phylogeny (ITS, GAPDH and TEF1‐α). Pathogenicity tests confirmed the roles of bothCurvulariaisolates in causing leaf spot ofS. trifasciata. To our knowledge, this is the first report ofC. eragrostidisandC. asianensiscausing leaf spot ofS. trifasciatain Malaysia.
The association between preoperative anemia and postoperative morbidity in pediatric surgical patients: A secondary analysis of a prospective observational cohort study
Authors: Meyer Heidi M. , Torborg Alexandra , Cronje Larissa , Thomas Jennifer , Bhettay Anisa , Diedericks Johan , Cilliers Celeste , Kluyts Hyla , Mrara Busisiwe , Kalipa Mandisa , Biccard Bruce ,   the SAPSOS investigators
Published: April 2020

Background

The prevalence of anemia in the South African pediatric surgical population is unknown. Anemia may be associated with increased postoperative complications. We are unaware of studies documenting these findings in patients in low‐ and middle‐income countries (LMICs).

Aim

The primary aim of this study was to describe the association between preoperative anemia and 26 defined postoperative complications, in noncardiac pediatric surgical patients. Secondary aims included describing the prevalence of anemia and risk factors for intraoperative blood transfusion.

Method

This was a secondary analysis of the South African Paediatric Surgical Outcomes Study, a prospective, observational surgical outcomes study. Inclusion criteria were all consecutive patients aged between 6 months and <16 years, presenting to participating centers during the study period who underwent elective and nonelective noncardiac surgery and had a preoperative hemoglobin recorded. Exclusion criteria were patients aged <6 months, undergoing cardiac surgery, or without a preoperative Hb recorded. To determine whether an independent association existed between preoperative anemia and postoperative complications, a hierarchical stepwise logistic regression was conducted.

Results

There were 1094 eligible patients. In children in whom a preoperative Hb was recorded 46.2% had preoperative anemia. Preoperative anemia was independently associated with an increased risk of any postoperative complication (odds ratio 2.0, 95% confidence interval: 1.3‐3.1, P = .002). Preoperative anemia (odds ratio 3.6, 95% confidence interval: 1.8‐7.1, P < .001) was an independent predictor of intraoperative blood transfusion.

Conclusion

Preoperative anemia had a high prevalence in a LMIC and was associated with increased postoperative complications. The main limitation of our study is the ability to generalize the results to the wider pediatric surgical population, as these findings only relate to children in whom a preoperative Hb was recorded. Prospective studies are required to determine whether correction of preoperative anemia reduces morbidity and mortality in children undergoing noncardiac surgery.
Molecular characterization of SLC24A5 variants and evaluation of Nitisinone treatment efficacy in a zebrafish model of OCA6
Authors: Yousaf Sairah , Sethna Saumil , Chaudhary Muhammad A. , Shaikh Rehan S. , Riazuddin Saima , Ahmed Zubair M.
Published: April 2020

Skin pigmentation is a highly heterogeneous trait with diverse consequences worldwide. SLC24A5, encoding a potent K+‐dependent Na+/Ca2+ exchanger, is among the known color‐coding genes that participate in melanogenesis by maintaining pH in melanosomes. Deficient SLC24A5 activity results in oculocutaneous albinism (OCA) type 6 in humans. In this study, by utilizing a exome sequencing (ES) approach, we identified two new variants [p. (Gly110Arg) and p. (IIe189Ilefs*1)] of SLC24A5 cosegregating with the OCA phenotype, including nystagmus, strabismus, foveal hypoplasia, albinotic fundus, and vision impairment, in three large consanguineous Pakistani families. Both of these variants failed to rescue the pigmentation in zebrafish slc24a5 morphants, confirming the pathogenic effects of the variants. We also phenotypically characterized a commercially available zebrafish mutant line (slc24a5ko) that harbors a nonsense (p.Tyr208*) allele of slc24a5. Similar to morphants, homozygous slc24a5ko mutants had significantly reduced melanin content and pigmentation. Next, we used these slc24a5ko zebrafish mutants to test the efficacy of nitisinone, a compound known to increase ocular and fur pigmentation in OCA1 (TYR) mutant mice. Treatment of slc24a5ko mutant zebrafish embryos with varying doses of nitisinone did not improve melanin production and pigmentation, suggesting that treatment with nitisinone is unlikely to be therapeutic in OCA6 patients.
Intestinal microbiota regulates tryptophan metabolism following oral infection with Toxoplasma gondii
Authors: dos Santos Liliane M. , Commodaro Alessandra G. , Vasquez Alicia R. R. , Kohlhoff Markus , de Paula Guerra Daniel A. , Coimbra Roney S. , Martins‐Filho Olindo A. , Teixeira‐Carvalho Andrea , Rizzo Luiz V. , Vieira Leda Q. , Serra Horacio M.
Published: April 2020

Introduction

The intestinal microbiota plays an important role in modulating host immune responses. Oral Toxoplasma gondii infection can promote intestinal inflammation in certain mice strains. The IDO‐AhR axis may control tryptophan (Trp) metabolism constituting an important immune regulatory mechanism in inflammatory settings.

Aims

In the present study, we investigated the role of the intestinal microbiota on Trp metabolism during oral infection with T gondii.

Methods and results

Mice were treated with antibiotics for four weeks and then infected with T gondii by gavage. Histopathology and immune responses were evaluated 8 days after infection. We found that depletion of intestinal microbiota by antibiotics contributed to resistance against T gondii infection and led to reduced expression of AhR on dendritic and Treg cells. Mice depleted of Gram‐negative bacteria presented higher levels of systemic Trp, downregulation of AhR expression and increased resistance to infection whereas depletion of Gram‐positive bacteria did not affect susceptibility or expression of AhR on immune cells.

Conclusion

Our findings indicate that the intestinal microbiota can control Trp availability and provide a link between the AhR pathway and host‐microbiota interaction in acute infection with T gondii.
Comparison of two skin temperature assessment methods after the application of topical revulsive products: Conductive iButton data logger system vs contact‐free infrared thermometry
Authors: Stoop Rahel , Hohenauer Erich , Aerenhouts Dirk , Barel André O. , Deliens Tom , Clijsen Ron , Clarys Peter
Published: April 2020

Background

Skin temperature assessments comprise conductive and contact‐free techniques. Comparison between conductive data loggers and contact‐free thermometry after the application of revulsive products is scarce. This study aimed to compare iButton data loggers with an infrared thermometer after the application of two revulsive products. Secondly, the relation between skin temperature kinetics with skin's perfusion of microcirculation was investigated.

Materials and methods

Healthy females (n = 25) were randomly allocated to two groups, representing the products A and B. Skin temperature was measured with “iButtons” and an infrared pistol at baseline and up to 1 hour after application. Skin's perfusion of microcirculation was monitored with a laser speckle contrast imager.

Results

Baseline “iButton” temperature values were significantly lower compared with infrared pistol values in both groups. After application of the products, skin temperature decreased as recorded with both devices followed by an increase to baseline values when measured with the pistol. The results obtained by the “iButtons” reached values above baseline in both products towards the end of the follow‐up period. A moderate correlation was found between infrared pistol and “iButton” system in product A, with a weak negative correlation between skin's perfusion of microcirculation and temperature devices. For product B, the correlation between the devices was moderate and between skin's perfusion and temperature devices weak and positive.

Conclusion

Both devices produced similar kinetics, except at baseline, where they may differ as metallic loggers have been insufficiently adapted to skin temperature. Skin's perfusion of microcirculation could not explain skin temperature changes.
Rapid high‐resolution HLA genotyping by MinION Oxford nanopore sequencing for deceased donor organ allocation
Authors: De Santis Dianne , Truong Linh , Martinez Patricia , D'Orsogna Lloyd
Published: April 2020

Recently, HLA epitopes on donor HLA molecules have been shown to be important in the success of solid organ transplantation. However, these epitopes can only be defined using high‐resolution typing results of which are often not available prior to deceased donor allocation. The ability to perform high‐resolution typing at all HLA loci for deceased organ donor allocation prior to transplantation would have major clinical benefits, in particular for highly sensitised recipients. We, therefore, developed a rapid high‐resolution next generation sequencing (NGS) HLA typing (ONT‐Rapid HR HLA) method for on‐call deceased donor allocation using the AllType 11 loci single‐tube assay (OneLambda Inc), modified in‐house to reduce polymerase chain reaction amplification time, and the Oxford Nanopore single‐molecule sequencing platform on the Flongle flow cell. The ONT‐Rapid HR HLA method was validated on 42 samples previously typed by current on‐call sequence‐specific oligonucleotide (HistoSpot) and NGS methods (AllType/Ion Torrent). High‐resolution typing obtained using the ONT‐Rapid HR HLA typing method was 100% concordant with both the current SSO and NGS methods, and in some cases, obtained higher resolution than either of the current methods. The rapid ONT‐Rapid HR HLA typing method was able to obtain these typing results at all loci in 4 to 4.5 hours. The novel ONT‐Rapid HR HLA typing method is the first reported NGS HLA typing method utilised for deceased donor allocation. The ability to provide high‐resolution HLA typing on deceased donors before implantation will in the future allow improvements in matching, which will ultimately provide clinical benefits to patients.
ToF-SIMS study of selective anchoring of Ru(tpy)2 complexes on zirconium-phosphate functionalized oxide surfaces
Authors: Vitale Stefania , Laramée-Milette Baptiste , Valenti Andrea , Amato Maria Emanuela , Hanan Garry S. , Tuccitto Nunzio , Licciardello Antonino
Published: April 2020

Polypyridine-based ruthenium complexes are among the most interesting photoactive molecular systems, in virtue of a number of outstanding (photo)physicochemical properties. To exploit such properties in solid-state applications, such as molecular electronics, optoelectronics, and photovoltaics, tailored experimental strategies are needed for the anchoring of such complexes on surfaces. At the same time, these strategies need to be investigated and validated through precise monitoring of the surface composition. In this contribution, the authors report on the application of time-of-flight secondary ion mass spectrometry (ToF-SIMS) for studying the anchoring onto transparent (semi)conducting fluorine tin-doped oxide of the polypyridinic photoactive RuDT2. This molecule is characterized by an Ru(tpy)2 core and two free terpyridinic units. The authors’ approach involves the use of a surface priming strategy based on the chemistry of zirconium phosphates and phosphonates (ZP-priming) to provide a platform for direct anchoring of RuDT2 molecules at the oxide surface. Onto patterned ZP-fluorine-doped tin oxide (FTO), the authors report selective anchoring of RuDT2 only onto ZP domains, while no binding occurs onto bare FTO areas. The latter were shown to remain available for further functionalization using functional molecules containing phosphonic moieties, and in the authors’ case, a phosphonic derivative of rhodamine B (RhB-P) was used. ToF-SIMS imaging was intensively used to monitor each reaction step and confirm the successful laterally resolved and selective adsorption of RuDT2 and RhB-P onto ZP and bare FTO domains, respectively.
Correlation between SiO2 growth rate and difference in electronegativity of metal–oxide underlayers for plasma enhanced atomic layer deposition using tris(dimethylamino)silane precursor
Authors: Maeda Erika , Nabatame Toshihide , Hirose Masafumi , Inoue Mari , Ohi Akihiko , Ikeda Naoki , Kiyono Hajime
Published: April 2020

The growth rate of an SiO2 film on various metal–oxide (M–O) underlayers by plasma-enhanced atomic layer deposition (ALD) using tris(dimethylamino)silane precursor and O2 plasma gas is systematically investigated, and the effect of the difference in the electronegativity of the M–O underlayer on the ALD-SiO2 growth mechanism is also discussed. All data for the ALD-SiO2 film thickness on HfO2, TiO2, Al2O3, and SiO2 underlayers satisfied a linear relationship as a function of the ALD cycle. The growth per cycle (GPC) value of the ALD-SiO2 film increased in the following order: SiO2 (0.043 nm/cycle) < Al2O3 (0.14) < TiO2 (0.17) < HfO2 (0.22). On the other hand, the negative charge concentration of oxygen atoms in the M–O underlayer becomes higher in the following order: Si–O (1.76 eV) < Al–O (2.03) < Ti–O (2.18) < Hf–O (2.27) due to the electronegativity difference between the Si, Al, Ti, Hf, and O elements of the M–O underlayer. A correlation between the GPC of the ALD-SiO2 film and the difference in the electronegativity of the M–O underlayer was also determined.
Design and characterization of an enclosed coaxial carbon nanotube speaker
Authors: Prabhu Suraj , Barnard Andrew
Published: April 2020

Automotive mufflers are heavy, large, and loud at low frequencies. Carbon nanotube (CNT) speakers are solid-state, lightweight, flexible, and capable of handling high temperatures. This makes them suitable as loudspeakers in active exhaust noise cancellation applications. A coaxial CNT speaker designed for active noise control in an exhaust system is developed. Test results for resistance, in-pipe axial sound pressure level, and efficiency are presented. The maximum in-pipe sound pressure level was above 120 dB (re 20 μPa) using 105 W of electrical power. The maximum power efficiency was 0.008%. The weight, dimensions, and sound pressure level of the speaker show promise for active exhaust noise cancellation applications.
A general approach for hysteresis-free, operationally stable metal halide perovskite field-effect transistors
Authors: Senanayak Satyaprasad P. , Abdi-Jalebi Mojtaba , Kamboj Varun S. , Carey Remington , Shivanna Ravichandran , Tian Tian , Schweicher Guillaume , Wang Junzhan , Giesbrecht Nadja , Di Nuzzo Daniele , Beere Harvey E. , Docampo Pablo , Ritchie David A. , Fairen-Jimenez David , Friend Richard H. , Sirringhaus Henning
Published: April 2020

Hysteresis-free operational stable perovskite FETs is demonstrated through ionic passivation and crystal modification.
Widening income inequalities in life expectancy? Analysing time trends based on German health insurance data
Authors: Tetzlaff Fabian , Epping Jelena , Sperlich Stefanie , Tetzlaff Juliane
Published: April 2020

Background

While social disparities in mortality have been shown in the majority of high-income countries, research on inequalities in the German population is still limited. This applies especially to studies investigating time trends in social inequalities with respect to life expectancy. The aim of this study is to examine income inequalities in life expectancy and whether inequalities have narrowed or widened over time.

Methods

The analyses are based on the claims data of a large German health insurance provider, which facilitates the combining of information on individual income and mortality. Life expectancy is calculated separately for three income groups (<60%, 60% to 80% and ≥80% of the average income in Germany) and for sex by applying period life table analyses. Trends are assessed by comparing the time periods 2005–2008 (N = 1 773 122), 2009–2012 (N=1 792 735) and 2013–2016 (N = 1 987 114).

Results

Trends in life expectancy differed by sex, age and income group. Especially among elderly men, the gap between low- and high-income groups widened over time, disadvantaging men with low incomes. Among women, a slight reduction in inequalities was observed, which was driven by the increases in life expectancy in low-income groups.

Conclusion

Our study shows that not all population subgroups benefitted equally from the continuing rise in life expectancy. The persisting inequalities emphasise the importance of public health efforts concentrating on reducing mortality risks among individuals in lower socioeconomic positions. Special attention should be paid to elderly men with low incomes. Further research is needed on the mechanisms underlying increasing health inequalities over time.
Residential churn moderates the relationship between economic deprivation and psychiatric admission: evidence from Wales
Authors: Handley Claire E , Oakley David , Saville Christopher W N
Published: April 2020

Background

There is a well-established link between area-level socioeconomic deprivation and psychiatric admission rates. Social capital has been proposed as a possible protective factor that may buffer economically deprived communities, but it may be disrupted in areas with high population turnover. This study aims to test whether population turnover, hereafter called churn, moderates the social gradient of psychiatric admissions.

Methods

Population churn rates, low income rates and psychiatric admission rates for 1909 lower super output areas in Wales were analysed using Poisson generalised linear mixed-effects models. Additional analyses explored the impact of deprivation measured more generally and the potential confound of population density.

Results

Population churn moderated the association between socioeconomic deprivation and psychiatric admission rates, such that greater social gradients in admission rates were found in areas with greater churn. Economic deprivation and churn were also found to be independently positively associated with admission rates. These relationships remained significant when using a broader measure of deprivation and after adjusting for population density.

Conclusion

High churn appears to exacerbate the detrimental effects of economic deprivation on mental health as well as being a risk factor in its own right. Residential stability rates should be considered when designing and implementing policies which aim to understand, prevent and treat mental health problems in at-risk communities.
Excess of de novo variants in genes involved in chromatin remodelling in patients with marfanoid habitus and intellectual disability
Authors: Chevarin Martin , Duffourd Yannis , A. Barnard Rebecca , Moutton Sébastien , Lecoquierre François , Daoud Fatma , Kuentz Paul , Cabret Caroline , Thevenon Julien , Gautier Elodie , Callier Patrick , St-Onge Judith , Jouan Thibaud , Lacombe Didier , Delrue Marie Ange , Goizet Cyril , Morice-Picard Fanny , Van-Gils Julien , Munnich Arnold , Lyonnet Stanislas , Cormier-Daire Valérie , Baujat Geneviève , Holder Muriel , Petit Florence , Leheup Bruno , Odent Sylvie , Jouk Pierre-Simon , Lopez Gipsy , Geneviève David , Collignon Patrick , Martin-Coignard Dominique , Jacquette Aurélia , Perrin Laurence , Putoux Audrey , Sarrazin Elisabeth , Amarof Khadija , Missotte Isabelle , Coubes Christine , Jagadeesh Sujatha , Lapi Elisabetta , Demurger Florence , Goldenberg Alice , Doco-Fenzy Martine , Mignot Cyril , Héron Delphine , Jean-Marçais Nolwenn , Masurel Alice , El Chehadeh Salima , Marle Nathalie , Huet Frédéric , Binquet Christine , Collod-Beroud Gwenaëlle , Arnaud Pauline , Hanna Nadine , Boileau Catherine , Jondeau Guillaume , Olaso Robert , Lechner Doris , Poe Charlotte , Assoum Mirna , Carmignac Virginie , Duplomb Laurence , Tran Mau-Them Frédéric , Philippe Christophe , Vitobello Antonio , Bruel Ange-Line , Boland Anne , Deleuze Jean-François , Thauvin-Robinet Christel , Rivière Jean-Baptiste , O'Roak Brian J , Faivre Laurence
Published: April 2020

Purpose

Marfanoid habitus (MH) combined with intellectual disability (ID) (MHID) is a clinically and genetically heterogeneous presentation. The combination of array CGH and targeted sequencing of genes responsible for Marfan or Lujan–Fryns syndrome explain no more than 20% of subjects.

Methods

To further decipher the genetic basis of MHID, we performed exome sequencing on a combination of trio-based (33 subjects) or single probands (31 subjects), of which 61 were sporadic.

Results

We identified eight genes with de novo variants (DNVs) in at least two unrelated individuals (ARID1B, ATP1A1, DLG4, EHMT1, NFIX, NSD1, NUP205 and ZEB2). Using simulation models, we showed that five genes (DLG4, NFIX, EHMT1, ZEB2 and ATP1A1) met conservative Bonferroni genomewide significance for an excess of the observed de novo point variants. Overall, at least one pathogenic or likely pathogenic variant was identified in 54.7% of subjects (35/64). These variants fell within 27 genes previously associated with Mendelian disorders, including NSD1 and NFIX, which are known to be mutated in overgrowth syndromes.

Conclusion

We demonstrated that DNVs were enriched in chromatin remodelling (p=2×10−4) and genes regulated by the fragile X mental retardation protein (p=3×10−8), highlighting overlapping genetic mechanisms between MHID and related neurodevelopmental disorders.
Effect of Lymphadenectomy on Survival in Early-Stage Type II Endometrial Carcinoma and Carcinosarcoma
Authors: Vatansever Dogan , Sozen Hamdullah , Sahin Ersoy Gulcin , Giray Burak , Topuz Samet , Iyibozkurt A. Cem , Salihoglu Yavuz
Published: April 2020

Purpose. We aimed to investigate whether systematic pelvic and paraaortic lymph node dissection delivers any survival advantage in a subgroup of patients with type II endometrial carcinoma and carcinosarcoma. Methods. We evaluated 135 patients with clinically early-stage (Stage I-II) type II endometrial carcinoma and carcinosarcoma who underwent systematic pelvic and paraaortic lymph node dissection or who did not undergo any lymph node dissection. Results. Overall survival (OS) and recurrence-free survivals (RFS) were significantly longer in the systematic lymph node dissection group (hazard ratio 0.28, 95% CI 0.13–0.62 p=0.002 for OS and hazard ratio 0.31, 95% CI 0.14–0.69 p=0.004 for RFS). Multivariate analysis showed that lymph node dissection, age, lymph node metastasis, and adjuvant therapy were independent prognostic variables of OS and RFS. Conclusions. Systematic pelvic and paraaortic lymph node dissection independently and significantly prolongs the survival of patients with early-stage type II endometrial carcinoma and carcinosarcoma.
An Improved HotSpot Algorithm and Its Application to Sandstorm Data in Inner Mongolia
Authors: Qing-dao-er-ji Ren , Pang Rui , Chang Yue
Published: April 2020

HotSpot is an algorithm that can directly mine association rules from real data. Aiming at the problem that the support threshold in the algorithm cannot be set accurately according to the actual scale of the dataset and needs to be set artificially according to experience, this paper proposes a dynamic optimization algorithm with minimum support threshold setting: S_HotSpot algorithm. The algorithm combines simulated annealing algorithm with HotSpot algorithm and uses the global search ability of simulated annealing algorithm to dynamically optimize the minimum support in the solution space. Finally, the Inner Mongolia sandstorm dataset is used for experiment while the wine quality dataset is used for verification, and the association rules screening indicators are set for the mining results. The results show that S_HotSpot algorithm can not only dynamically optimize the selection of support but also improve the quality of association rules as it is mining reasonable number of rules.
Occult Thyroid Carcinoma without Malignant Thyroid Gland Findings during Preoperative Examination: Report of Three Cases
Authors: Toda Soji , Iwasaki Hiroyuki , Suganuma Nobuyasu , Okubo Yoichiro , Hayashi Hiroyuki , Masudo Katsuhiko , Nakayama Hirotaka , Masuda Munetaka
Published: April 2020

Occult thyroid carcinoma preceded by clinical manifestations and findings from extrathyroidal tumors is rare. The lack of malignant findings in the thyroid during the preoperative examination makes diagnosis difficult. We encountered a 71-year-old man with a primary ectopic thyroid carcinoma causing superior vena cava syndrome. Although no malignant findings were found in the thyroid gland, biopsy of bone metastases led to the diagnosis of thyroid cancer. HE staining of bone metastases revealed nuclear features of papillary carcinoma, and immunostaining was positive for thyroglobulin and PAX-8. The second case involved an 84-year-old man with a mediastinal tumor and suspected thyroid cancer because of high thyroglobulin levels in blood. The pathological tumor finding was papillary thyroid cancer. The last case was that of a 56-year-old woman lacking preoperative thyroid examination malignant findings, but with cervical lymph node metastasis. The thyroglobulin level of the lymph node puncture fluid was useful for preoperative diagnosis. We performed total thyroidectomy plus bilateral modified neck dissection. Pathology revealed a 1 mm papillary carcinoma in the left lobe. All of these cases were difficult to diagnose. However, we combined the results of various tests such as radiographic imaging, blood tests, and immunohistological tests to diagnose our patients.
Metal-free Catalyzed One-Pot Multicomponent Synthesis of (E)-3-(2-((5-(Benzylideneamino)-1,3,4-thiadiazol-2-yl)thio) Acetyl)-2H-chromen-2-one Derivatives and Their Biological Evaluation
Authors: Merugu Shivanand , Ponnamaneni Vijaya Kumar , Varala Ravi , Adil Syed Farooq , Khan Mujeeb , Siddiqui Mohammed Rafiq H. , Vemula Ravikumar
Published: April 2020

A series of (E)-3-(2-((5-(benzylideneamino)-1,3,4-thiadiazol-2-yl)thio) acetyl)-2H-chromen-2-one and its derivatives (4a-h) have been obtained using a one-pot multicomponent reaction with good yields. The compounds have been synthesized from 3-(2-bromoacetyl)chromen-2-ones (1), 5-amino-1,3,4-thiadiazole-2-thiol (2), and substituted benzaldehydes (3) in anhydrous ethanol and conc. H2SO4. Subsequently, all the synthesized compounds have been screened for their antimicrobial activity and characterized by analytical and spectral data.
Analysis of the Hydrodynamic Lubrication Characteristics of the External Return Spherical Bearing Pair of an Axial Piston Pump/Motor
Authors: Deng Haishun , Wang Lei , Guo Yongcun , Zhang Yu , Wang Chuanli
Published: April 2020

At present, the study on lubrication of return mechanism friction pair is only for the common axial piston pump, and the influence of kinematic characteristics of contact points between the retainer plate and the spherical hinge on lubrication of return mechanism friction pair is not considered. So, it is hard to directly apply the frictional lubrication characteristic of the bearing to design the external return mechanism. Based on the kinematic and operating characteristics of the external return mechanism and considering the lubrication situation of the friction pair under Newtonian fluid, a Reynolds equation in the spherical coordinate system was deduced, and then the lubrication of the external return spherical hinge under different structural parameters was analysed. The results show that different slant inclination of the external swash plate, pump shaft rotating speeds, and eccentricities all affect the lubrication characteristics of the friction pair, especially the slant inclination of the external swash plate and oil film clearance has great influence on axial leakage flow. Therefore, in the design of external return mechanism of the multirow axial piston pump, the lubrication performance of the external return spherical hinge under different slant inclinations of the external swash plate should be analysed and calculated.
Calculation and Estimation of Surface Roughness and Energy Consumption in Milling of 6061 Alloy
Authors: Öztürk Burak , Kara Fuat
Published: April 2020

The best surface quality that can be achieved in manufactured products has become the main goal of industrial enterprises in recent years. Due to the subsequent increase in energy consumption costs from rising energy efficiency rates, manufacturers are contributing to this issue by applying advanced design functions for their machines. In line with the same objective, this study investigated the machinability of 6061 aluminum alloy, which has a high throughput rate and low machinability featuring built up edge. The aim of the research was to optimize the cutting parameters for minimum surface roughness (Ra) and energy consumption (EC) using a CNC milling machine. At the same time, measurements of power indices (A) of both the spindle and the X‐axis motors were carried out with the goal of improved chip removal as compared to literature studies. The experiment was designed according to the Taguchi L16 (21 × 43) orthogonal index. Four different cutting speeds (60, 120, 180, and 240 m/min), feed rates (0.10, 0.15, 0.20, and 0.25 mm/rev), and cutting depths (0.5, 0.10, 0.15, and 0.20 mm) and two different cooling methods (coolant fluid and dry cutting) were selected as cutting parameters.
Uniform Loading of Nickel Phosphide Nanoparticles in Hierarchical Carbonized Wood Channel for Efficient Electrocatalytic Hydrogen Evolution
Authors: Bai Yuanjuan , Zhang Yidan , Cheng Shihong , Luo Yongfeng , Du Kun , Hu Jinbo , Li Xianjun
Published: April 2020

The development of self-supporting high-efficiency catalysts is a major challenge for the efficient production of H2 via water splitting. In this manuscript, a freestanding Ni2P-Ni12P5/carbonized wood (CW) composite electrode was prepared by a simple hydrothermal method and high-temperature calcination using pine wood with uniform channel as support and a large number of hydroxyl groups as nucleation center. The morphology and structural characteristics indicated that the Ni2P and Ni12P5 nanoparticles were uniformly distributed within the hierarchical porous structure of the CW. In acid media, the as-prepared Ni2P-Ni12P5/CW exhibits an excellent catalytic activity with a low overpotential of 151 mV at 10 mA cm−2 and a reasonably good long-term stability.
New Robust Principal Component Analysis for Joint Image Alignment and Recovery via Affine Transformations, Frobenius and L2,1 Norms
Authors: Likassa Habte Tadesse
Published: April 2020

This paper proposes an effective and robust method for image alignment and recovery on a set of linearly correlated data via Frobenius and L2,1 norms. The most popular and successful approach is to model the robust PCA problem as a low-rank matrix recovery problem in the presence of sparse corruption. The existing algorithms still lack in dealing with the potential impact of outliers and heavy sparse noises for image alignment and recovery. Thus, the new algorithm tackles the potential impact of outliers and heavy sparse noises via using novel ideas of affine transformations and Frobenius and L2,1 norms. To attain this, affine transformations and Frobenius and L2,1 norms are incorporated in the decomposition process. As such, the new algorithm is more resilient to errors, outliers, and occlusions. To solve the convex optimization involved, an alternating iterative process is also considered to alleviate the complexity. Conducted simulations on the recovery of face images and handwritten digits demonstrate the effectiveness of the new approach compared with the main state-of-the-art works.
Application of Femtosecond Laser in Anterior Segment Surgery
Authors: Han Sang Beom , Liu Yu-Chi , Mohamed-Noriega Karim , Mehta Jodhbir S.
Published: April 2020

Femtosecond laser (FSL) is a near-infrared laser that can create reliable and reproducible tissue cutting with minimal damage to adjacent tissue. As the laser can also create incisions with various orientations, depths, and shapes, it is expected to be a useful tool for anterior segment surgery, such as cornea, refractive, and cataract surgery. In this review, the authors will introduce the application of FSL in various anterior segment surgeries and discuss the results of studies regarding the efficacy and safety of FSL in cornea, refractive, and cataract surgery. Experimental studies regarding the potential use of FSL will also be introduced. The studies discussed in this review suggest that FSL may be a useful tool for improving the prognosis and safety of surgeries of the anterior segment.
Evolution of Micron‐Scale Pore Structure and Connectivity of Lignite during Pyrolysis
Authors: Meng Qiaorong , Zhao Yangsheng , Kang Zhiqin , Wang Yong , Gao Li , Zhang Yongfeng
Published: April 2020

Based on the high‐precision microcomputed tomography (micro‐CT) technology, the evolution of the μm‐scale pore structure and connectivity of lignite during pyrolysis from room temperature to 600°C was studied. The results show that the pore connectivity of lignite increases with the increase of temperature, and the change of pore structure can be divided into four stages: the first stage is from room temperature to 100°C, characterized by generation and connection of small‐diameter pores. The second stage is 100–200°C, characterized by rapid expansion and interconnection of pores due to the thermal cracking. The third stage is from 200°C to 450°C, characterized by the slow evolution of pore structure for pyrolysis. The fourth stage is from 450°C to 600°C, characterized by pore interconnection for pyrolysis. 200°C is the temperature at which the μm‐scale pore structure of lignite changes dramatically. During the whole pyrolysis process from room temperature to 600°C, the pore quantity of lignite is mainly from the pores of a diameter of 0.65–3 μm. At 200°C and above, the pore volume of lignite is mainly from the pores with a diameter larger than 100 μm, but they are few. These research results have important theoretical reference values for the upgrading and pyrolysis of lignite.
Establishing the Improved Dynamic Model for the Extracorporeal Ultrasonic Lithotripsy Medical Cooperative Robot
Authors: Li Xiao , Li Maocai , Sun Hanxu , Gong Jun , Zhang Zhaowen , Zhang Rongshun
Published: April 2020

The calculus is one of the common diseases with high incidence. The effective treatment method is extracorporeal ultrasonic lithotripsy. At present, it is low about the intelligent and automatic level of the lithotripter, and it has gradually failed to meet the treatment needs. The extracorporeal ultrasonic lithotripsy medical cooperative robot can solve such problems effectively, and it is equally critical for accurate modeling studies of dynamic models. Based on the previous research and experimental basis, this paper proposes a correction theory to improve the accuracy of the dynamic model for the model error in collaborative robot work. The study first establishes the dynamic model and the solid model of the collaborative robot and then subtracts the value of the dynamic model from the solid model to obtain the modified equation. Finally, the accuracy of the dynamic model is improved by modifying the equation. The experiments show that the kinetic model correction theory is effective and can improve the accuracy of the dynamic model modeling after the correction of the torque equation. The experiments show that the improved dynamic model theory is effective and can improve the modeling accuracy of the dynamic model after the correction of the torque equation. The modified equation has the best correction effect in the 5th degree polynomial and can be used for the extracorporeal ultrasonic lithotripsy medical cooperative robot control.
A Genome-Wide Association Study Identifies Two Novel Susceptible Regions for Squamous Cell Carcinoma of the Head and Neck
Authors: Shete Sanjay , Liu Hongliang , Wang Jian , Yu Robert , Sturgis Erich M. , Li Guojun , Dahlstrom Kristina R. , Liu Zhensheng , Amos Christopher I. , Wei Qingyi
Published: April 2020

To identify genetic variants for risk of squamous cell carcinoma of the head and neck (SCCHN), we conducted a two-phase genome-wide association study consisting of 7,858,089 SNPs in 2,171 cases and 4,493 controls of non-Hispanic white, of which, 434,839 typed and 7,423,250 imputed SNPs were used as the discovery. SNPs with P < 1 × 10−3 were further validated in the OncoArray study of oral and pharynx cancer (5,205 cases and 3,232 controls of European ancestry) from databases of Genotypes and Phenotypes. Meta-analysis of the discovery and replication studies identified one novel locus 6p22.1 (P = 2.96 × 10−9 for the leading rs259919) and two cancer susceptibility loci 6p21.32 (rs3135001, HLA-DQB1) and 6p21.33 (rs1265081, CCHCR1) associated with SCCHN risk. Further stratification by tumor site revealed four known cancer loci (5p15.33, 6p21.32, 6p21.33, and 2p23.1) associated with oral cavity cancer risk and oropharyngeal cancer risk, respectively. In addition, one novel locus 18q22.2 (P = 2.54 × 10−9 for the leading SNP rs142021700) was identified for hypopharynx and larynx cancer risk. For SNPs in those reported or novel loci, we also performed functional annotations by bioinformatics prediction and expression quantitative trait loci analysis. Collectively, our identification of four reported loci (2p23.1, 5p15.33, 6p21.32, and 6p21.33) and two novel loci (6p22.1 and 18q22.2) for SCCHN risk highlight the importance of human leukocyte antigen loci for oropharyngeal cancer risk, suggesting that immunologic mechanisms are implicated in the etiology of this subset of SCCHN.

Significance:

Two novel risk loci for SCCHN in non-Hispanic white individuals highlight the importance of immunologic mechanism in the disease etiology.
Pitfalls in Cancer Biomarker Discovery and Validation with Emphasis on Circulating Tumor DNA
Authors: Ren Annie H. , Fiala Clare A. , Diamandis Eleftherios P. , Kulasingam Vathany
Published: April 2020

Despite significant investment of funds and resources, few new cancer biomarkers have been introduced to the clinic in the last few decades. Although many candidates produce promising results in the laboratory, deficiencies in sensitivity, specificity, and predictive value make them less than desirable in a patient setting. This review will analyze these challenges in detail as well as discuss false discovery, problems with reproducibility, and tumor heterogeneity. Circulating tumor DNA (ctDNA), an emerging cancer biomarker, is also analyzed, particularly in the contexts of assay specificity, sensitivity, fragmentation, lead time, mutant allele fraction, and clinical relevance. Emerging artificial intelligence technologies will likely be valuable tools in maximizing the clinical utility of ctDNA which is often found in very small quantities in patients with early-stage tumors. Finally, the implications of challenging false discoveries are examined and some insights about improving cancer biomarker discovery are provided.

See all articles in this CEBP Focus section, “NCI Early Detection Research Network: Making Cancer Detection Possible.”