bluuebunny/crossref_metadata_2025 huggingface dataset:
Spatially entangled photon pairs from lithium niobate nonlocal metasurfaces
Authors: Zhang Jihua , Ma Jinyong , Parry Matthew , Cai Marcus , Camacho-Morales Rocio , Xu Lei , Neshev Dragomir N. , Sukhorukov Andrey A.
Published: July 2022

Metasurfaces consisting of nanoscale structures are underpinning new physical principles for the creation and shaping of quantum states of light. Multiphoton states that are entangled in spatial or angular domains are an essential resource for many quantum applications; however, their production traditionally relies on bulky nonlinear crystals. We predict and demonstrate experimentally the generation of spatially entangled photon pairs through spontaneous parametric down-conversion from a metasurface incorporating a nonlinear thin film of lithium niobate covered by a silica meta-grating. We measure the correlations of photon pairs and identify their spatial antibunching through violation of the classical Cauchy-Schwarz inequality, witnessing the presence of multimode entanglement. Simultaneously, the photon-pair rate is strongly enhanced by 450 times as compared to unpatterned films because of high-quality-factor resonances. These results pave the way to miniaturization of various quantum devices by incorporating ultrathin metasurfaces functioning as room temperature sources of quantum-entangled photons.
Biosiliceous, organic-rich, and phosphatic facies of Triassic strata of northwest Alaska: Transect across a high-latitude, low-angle continental margin
Authors: Dumoulin Julie A. , Whidden Katherine J. , Rouse William A. , Lease Richard O. , Boehlke Adam , O’Sullivan Paul
Published: July 2022

The Shublik Formation (Middle and Upper Triassic) is a mixed siliciclastic-carbonate-phosphatic unit in northern Alaska. It generated oil found in Prudhoe Bay and other accumulations and is a prospective self-sourced resource play on Alaska’s North Slope. Its distal, deeper-water equivalent—the Otuk Formation—consists largely of radiolarian chert, mudstone, and limestone and contains potential gas accumulations in the Brooks Range foothills to the south. New petrographic, fossil, geochemical, spectral gamma-ray, and zircon U-Pb data yield insights into facies changes in these units, which were deposited across a shallowly dipping shelf margin in a high-latitude setting. Samples come from four localities along a transect that extends ~410 km from present-day northeast (proximal) to southwest (distal) in northwest Alaska. Proximal Shublik facies (Brontosaurus 1 well) contain abundant siliciclastic detritus and local phosphate. Shublik-Otuk transitional facies occur in the probable onshore extension of the Hanna Trough (Surprise Creek); new zircon U-Pb data indicate an early Norian age for a bentonite bed in this section. Distal Otuk facies (Red Dog district, Cape Lisburne) are fine grained, biosiliceous, and organic rich. New detrital zircon U-Pb data from a distinctive sandstone member in the Otuk Formation at Cape Lisburne reinforce previous interpretations of a provenance to the present-day northwest and indicate a protracted history of Triassic magmatism for this source area. Triassic facies patterns in northwestern Alaska were shaped by sea-level change, climate, and regional tectonism. Organic-rich facies developed best at times (Ladinian–middle Norian) and/or in settings (distal shelf, Hanna Trough) with minimal dilution of organic matter by other detritus.
Supplemental Material: Plio-Pleistocene cooling of the northeastern Tibetan Plateau due to global climate change and surface uplift
Authors: Richter Fabiana , al. et
Published: July 2022

A description and discussion of methods; additional figures showing core photographs, geochemical data, statistical data, and models relating soil/lake and air temperatures; complete geochemical datasets and tabled analytical results; and tables containing statistical treatment of data and compilation of environmental datasets.
Angiomyxolipoma: a rare variant over the forehead
Authors: Sarangi Sujata , Kala Prakash , Boddeda Tulasi Satyendra , Elhence Poonam Abhay
Published: July 2022

Lipoma is a common benign mesenchymal tumour. However, angiomyxolipoma (AML) is one of its rarer variants. It was first described by Maiet alin 1996 in the lipomatous lesions having mature adipocytes in a myxoid background with rich vascular network. We present the case of a 21 year-old man with recurrent forehead swelling diagnosed as AML on microscopy. It is important to document this rare variant to add to the limited literature and to aid in differentiating it from its malignant counterpart. Moreover, as our case presented with recurrence within a short period of time, a precise diagnosis and documentation of recurrence is essential as it is reportedly the first case with recurrence among the 21 cases of AMLs previously published.
The Indigenous Counselling and Nicotine (ICAN) QUIT in Pregnancy Pilot Study protocol: a feasibility step-wedge cluster randomised trial to improve health providers' management of smoking during pregnancy
Authors: Bar-Zeev Yael , Bonevski Billie , Bovill Michelle , Gruppetta Maree , Oldmeadow Chris , Palazzi Kerrin , Atkins Lou , Reath Jennifer , Gould Gillian S
Published: July 2022

Introduction

Indigenous women have the highest smoking prevalence during pregnancy (47%) in Australia. Health professionals report lack of knowledge, skills and confidence to effectively manage smoking among pregnant women in general. We developed a behaviour change intervention aimed to improve health professionals’ management of smoking in Indigenous pregnant women—the Indigenous Counselling And Nicotine (ICAN) QUIT in Pregnancy. This intervention includes webinar training for health professionals, an educational resources package for health professionals and pregnant women, free oral nicotine replacement therapy (NRT) for pregnant women, and audit and feedback on health professionals' performance.

The aim of this study is to test the feasibility and acceptability of the ICAN QUIT in Pregnancy intervention to improve health professionals' provision of evidence-based culturally responsive smoking cessation care to Australian Indigenous pregnant smokers.

Methods and analysis

This protocol describes the design of a step-wedge cluster randomised pilot study. Six Aboriginal Medical Services (AMSs) are randomised into three clusters. Clusters receive the intervention staggered by 1 month. Health professionals report on their knowledge and skills pretraining and post-training and at the end of the study. Pregnant women are recruited and followed up for 3 months. The primary outcome is the recruitment rate of pregnant women. Secondary outcomes include feasibility of recruitment and follow-up of participating women, and webinar training of health professionals, measured using a designated log; and measures of effectiveness outcomes, including quit rates and NRT prescription rates.

Ethics and dissemination

In accordance with the Aboriginal Health and Medical Research Council guidelines, this study has been developed in collaboration with a Stakeholder and Consumer Aboriginal Advisory Panel (SCAAP). The SCAAP provides cultural consultation, advice and direction to ensure that implementation is acceptable and respectful to the Aboriginal communities involved. Results will be disseminated to AMSs, Aboriginal communities and national Aboriginal bodies.

Registration details

This protocol (version 4, 14 October 2016) is registered with the Australian and New Zealand Clinical Trials Registry (Ref #: ACTRN 12616001603404).
Association between chronic pain and physical activity in a Swiss population-based cohort: a cross-sectional study
Authors: Aebischer Oriane , Suter Marc René , Vollenweider Peter , Marques-Vidal Pedro
Published: July 2022

Objective

To assess the bidirectional association between chronic pain and both subjectively and objectively measured physical activity (PA).

Design

Cross-sectional study.

Setting

Population-based sample in Lausanne, Switzerland, May 2014 to April 2017.

Participants

Non-stratified, representative sample of the population of Lausanne (Switzerland) aged 35–75 years. Participants were excluded if they had missing data for the pain or the PA questionnaires, for accelerometry (defined as >20% of non-wear time or duration <7 days) or for covariates.

Primary outcomes

Primary outcomes were association between chronic pain and previous, subjectively assessed PA (questionnaire), and subsequent, objectively assessed PA (accelerometry). Daily pain, pain duration, number of painful sites and pain intensity were assessed by questionnaire. PA was assessed by questionnaire 2 weeks prior and by accelerometry 2 weeks after completion of the pain questionnaire. PA was further categorised as sedentary (SED), light and moderate-to-vigorous PA.

Results

2598 participants (52.9% women, mean age 60.5 years) had subjectively assessed PA. Multivariable analysis showed time spent in SED to be negatively associated with the number of painful sites: adjusted mean±SE 528±5, 522±7 and 502±7 min/day for 0, 1–2 and 3+ painful sites, respectively, p for trend <0.005. No other association was found between chronic pain and subjectively assessed PA categories. 2205 participants (52.8% women, mean age 61.7 years) had accelerometry-derived PA. No significant association between chronic pain and subsequent objectively assessed PA was found after multivariable analyses.

Conclusion

In this Swiss population-based cohort, no consistent association was found between chronic pain and PA. Hence, in the general population, chronic pain does not significantly impact time spent in PA.
Evaluating the use of coronary artery calcium scoring as a tool for coronary artery disease (CAD) risk stratification and its association with coronary stenosis and CAD risk factors: a single-centre, retrospective, cross-sectional study at a tertiary centre in Pakistan
Authors: Liaquat Afrose , Khan Ameerdad , Ullah Shah Saeed , Iqbal Hania , Iqbal Safa , Rana Atif Iqbal , Ur Rahman Habib
Published: July 2022

Objective

Coronary artery disease (CAD) risk stratification plays a fundamental role in the early detection and optimal management of CAD. The aim of our study is to investigate the use of coronary artery calcium scoring (CACS) as a tool for CAD risk stratification through evaluation of its correlation with the degree of coronary stenosis and its association with conventional cardiovascular risk factors in asymptomatic patients.

Design

Single-centre, retrospective, cross-sectional study.

Setting

The study was conducted at a tertiary centre (Shifa International Hospital) in Islamabad, Pakistan, through review of medical records of patients who underwent coronary CT between the years 2016 and 2020.

Participants

A total of 1014 patients were included in the study. The study population was analysed for presence of conventional risk factors (gender, age, diabetes, hypertension, body mass index, dyslipidaemia) and association with CACS (zero: n=534; minimal: 0 to ≤10, n=70; mild: >10 to ≤100, n=130; moderate: >100 to ≤400, n=118; and severe: >400, n=49). The association of CACS with the degree of coronary artery stenosis seen on CT scan (significant: ≥50% stenosis, n=216; non-significant: <50% stenosis, n=685) was also analysed.

Outcome measures

The main outcome was the association of coronary artery stenosis with CACS. The secondary outcome was the association of CACS with conventional CAD risk factors.

Results

A significant positive association was shown between CACS and coronary artery stenosis (zero vs minimal: OR 0.39, 95% CI 0.20 to 0.79, p=0.01; zero vs mild: OR 0.16, 95% CI 0.10 to 0.27, p<0.0001; zero vs moderate: OR 0.05, 95% CI 0.03 to 0.08, p<0.0001; zero vs severe: OR 0.02, 95% CI 0.01 to 0.050, p<0.0001). Age >45 (OR 1.03, 95% CI 1.01 to 1.05, p<0.0001), hypertension (OR 1.16, 95% CI 0.79 to 1.71, p=0.001) and diabetes (OR 1.33, 95% CI 0.88 to 1.99, p<0.0001) were associated with an increased risk of coronary artery stenosis. Moreover, plaques with higher calcium burden were found in the left anterior descending artery (mean CACS: 386.15±203.89), followed by right coronary (239.77±219.83) and left circumflex (175.56±153.54) arteries.

Conclusion

The results indicate a strong positive association of CACS with coronary artery stenosis. CACS was also significantly associated with conventional CAD risk factors in this population.
Smoking habits, awareness and support needs for cessation among people with multiple sclerosis in Australia: findings from an online survey
Authors: Weld-Blundell Isabelle , Grech Lisa , Borland Ron , White Sarah L , das Nair Roshan , Marck Claudia H
Published: July 2022

Objectives

To assess smoking habits, nicotine use, exposure to passive smoking, awareness of associated harms, and experiences with and preferences for smoking cessation support among people with multiple sclerosis (MS).

Design

Online survey, convenience sampling.

Setting

Community setting, Australia.

Participants

Adults living in Australia with probable or diagnosed MS were recruited via social media and newsletters to participate in 2020.

Results

Of the 284 participants in our convenience sample, 25.7% were current smokers (n=73) and 38.0% were former smokers (n=108). Awareness of the harms of smoking on MS onset (n=68, 24.3%) and progression (n=116, 41.6%) was low. Almost a quarter (n=67, 23.8%) of participants were regularly exposed to passive smoke, and awareness of associated harm was also low (n=47, 16.8%). Among current smokers, 76.1% (n=54) had tried quitting and 73.2% considered quitting within 6 months (n=52). Many participants reported perceived short-term benefits of smoking, and long-term benefits of quitting, on MS symptoms and general well-being (short-term n=28, 40.0%; long-term n=28, 82.4%). While most participants reported that their neurologist (n=126, 75.4%) or other healthcare providers (n=125, 74.9%) had assessed smoking status, very few neurologists (n=3, 1.8%) or other healthcare providers (n=14, 8.4%) had provided help with quitting. Most current smokers preferred speaking about smoking to a neurologist (n=36, 52.2%) or general practitioner (n=41, 59.4%). Almost 60% of the current smokers wanted additional cessation information specific to MS (n=41, 59.4%), and 45.5% said this information would motivate them to quit smoking (n=30).

Conclusions

Our convenience sample, which may not be representative, indicated an urgent need for regular evidence-based smoking cessation supports for people with MS. Most participants felt they would benefit from smoking cessation advice. MS clinicians, in collaboration with patient organisations, smoking cessation services and general practitioners, should make smoking cessation promotion with people with MS a priority.
Correlates of access to sanitation facilities and benefits received from the Swachh Bharat Mission in India: analysis of cross-sectional data from the 2018 National Sample Survey
Authors: Prakash Srayasi , Kumar Pradeep , Dhillon Preeti , Unisa Sayeed
Published: July 2022

Objective

Equitable and affordable access to improved sanitation facilities is linked to health and is among the priority areas of development programmes in a country like India. This study assesses the level of different sanitation facilities accessed by households and attempts to understand the socioeconomic characteristics of the households that received financial benefits from the Swachh Bharat Mission (Swachh Bharat Abhiyan), a Government of India flagship programme.

Design

Cross-sectional study.

Setting and participants

The study extracted data from the 76th round (2018) of the National Sample Survey, consisting of 106 837 households in India.

Outcome measures

Sanitation services and benefits received from the Swachh Bharat Mission in the last 3 years preceding the survey were the two outcome variables of this study. Bivariate and multinomial logistic regression analysis were performed to identify factors associated with the outcome variables.

Results

Findings show the existence of state and regional disparities, along with rural–urban gaps, in the accessibility of sanitation facilities. Half of the households (52%, n=55 555) had access to safely managed sanitation facilities, followed by basic services (14.8%, n=15 812), limited services (11.4%, n=12 179) and unimproved services/open defecation (21.8%, n=23 290). Limited and unimproved facilities decreased significantly (p<0.001) with increase in economic status, although poor and less educated households received the maximum benefit from the Swachh Bharat Mission.

Conclusion

The mission has been successful in increasing access overall; however, many people continue to lack access to improved sanitation and there remains a need to follow up poor and rural households to determine their usage of and the current state of their sanitation facilities.
Regional differences in intercohort and intracohort trends in obesity in the USA: evidence from the National Health Interview Survey, 1982–2018
Authors: Luo Liying , Zang Emma , Xu Jiahui
Published: July 2022

Objectives

Obesity in the USA is more prevalent in younger cohorts than older cohorts and also more prevalent in the South and the Midwest than other regions. However, little research has examined the intersection of cohort patterns and regional differences in obesity. We address the knowledge gap by investigating net of age and period trends, how intercohort and intracohort patterns in obesity may depend on Census regions for black and white men and women.

Design, setting and participants

A total of 1 020 412 non-Hispanic black and white respondents aged 20–69 were included from the 1982–2018 National Health Interview Survey.

Outcome measures

Obesity is defined as body mass index ≥30 kg/m2based on participant self-reported weight and height. Obesity ORs were calculated to estimate region-specific age, period and cohort patterns for each demographic group.

Results

Although age and period trends in obesity were similar across regions for all demographic groups, cohort patterns depended on region of residence for white women. Specifically, for the white women cohorts born in 1955 or later, living in the South and the Midwest implied higher likelihood of obesity than their peers in other regions even after accounting for average regional differences. These cohorts’ disadvantage seemed to persist and/or accumulate over the life course. Socioeconomic factors explained little average regional differences or region-specific cohort variation.

Conclusions

Our findings highlight the interdependence of the temporal and geographical processes in shaping obesity disparities.
Novel solutions to old problems: improving the reliability of emergency equipment provision in critical care using accessible digital solutions
Authors: Hunter Christopher Mark , Paul Daniel , Plumb Benjamin
Published: July 2022

Reliable provision of emergency equipment in Critical Care is key to ensure patient safety during medical emergencies and transfers. A problem was identified in incident reports and external inspections of processes that ensured the provision of such equipment for use by critical care teams in non-critical care areas in the form of grab bags. A comprehensive project was undertaken to tackle this including the provision of a bespoke digital system.

Existing systems were reliant on staff remembering to check equipment and document checks on paper and there was no formal ability to hand over ongoing problems. A local project management approach, ‘7 Steps to Quality Improvement’, which integrated many of the philosophies and tools from Healthcare Improvement was used. A bespoke digital system was designed and implemented with integrated improvements in equipment stocking ergonomics.

The reliability of documented equipment checks improved significantly, there was a significant reduction in the number of incident reports regarding emergency equipment and the time spent by staff doing equipment checks was reduced substantially with significant cost and resource improvements. This was so successful the format has been rapidly translated and spread to other areas such as operating theatres’ difficult airway trolleys.

Undertaking a structured quality improvement approach, using appropriate stakeholder engagement, digitalisation of systems and improvements in basic system ergonomics can have a substantial impact on the reliability and safety of emergency equipment provided for use by members of the critical care team.
Endovascular versus open repair in patients with abdominal aortic aneurysm: a claims-based data analysis in Japan
Authors: Kimura Yuki , Ohtsu Hiroshi , Yonemoto Naohiro , Azuma Nobuyoshi , Sase Kazuhiro
Published: July 2022

Objectives

Endovascular aortic repair (EVAR) evolved through competition with open aortic repair (OAR) as a safe and effective treatment option for appropriately selected patients with abdominal aortic aneurysm (AAA). Although endoleaks are the most common reason for post-EVAR reintervention, compliance with lifelong regular follow-up imaging remains a challenge.

Design

Retrospective data analysis.

Setting

The Japan Medical Data Center (JMDC), a claims database with anonymous data linkage across hospitals, consists of corporate employees and their families of ≤75 years of age.

Participants

The analysis included participants in the JMDC who underwent EVAR or OAR for intact (iAAA) or ruptured (rAAA) AAA. Patients with less than 6 months of records before the aortic repair were excluded.

Main outcome measures

Overall survival and reintervention rates.

Results

We identified 986 cases (837 iAAA and 149 rAAA) from JMDC with first aortic repairs between January 2015 and December 2020. The number of patients, median age (years (IQR)), follow-up (months) and post-procedure CT scan (times per year) were as follows: iAAA (OAR: n=593, 62.0 (57.0–67.0), 26.0, 1.6, EVAR: n=244, 65.0 (31.0–69.0), 17.0, 2.2), rAAA (OAR: n=110, 59.0 (53.0–59.0), 16.0, 2.1, EVAR: n=39, 62.0 (31.0–67.0), 18.0, 2.4). Reintervention rate was significantly higher among EVAR than OAR in rAAA (15.4% vs 8.2%, p=0.04). In iAAA, there were no group difference after 5 years (7.8% vs 11.0%, p=0.28), even though EVAR had initial advantage. There were no differences in mortality rate between EVAR and OAR for either rAAA or iAAA.

Conclusions

Claims-based analysis in Japan showed no statistically significant difference in 5-year survival rates of the OAR and EVAR groups. However, the reintervention rate of EVAR in rAAA was significantly higher, suggesting the need for regular post-EVAR follow-up with imaging. Therefore, international collaborations for long-term outcome studies with real-world data are warranted.
Transcatheter versus surgical closure of atrial septal defect in adult patients with tricuspid regurgitation
Authors: Kim Mijin , Lee Pil Hyung , Kim Dae-Hee , Jung Sung-Ho , Lee Seung-Ah , Lee Sahmin , Kang Duk-Hyun , Song Jae-Kwan , Song Jong-Min
Published: July 2022

Objectives

Transcatheter closure using a device has been established as an effective atrial septal defect (ASD) treatment, but its value in treating patients with concomitant functional tricuspid regurgitation (TR) is relatively unknown. We sought to evaluate outcomes of patients with ASD and significant TR after transcatheter ASD closure or surgical treatment.

Methods

A total of 252 consecutive adult patients (53.8±13.8 years, 180 females) who had a significant functional TR before ASD closure were retrospectively analysed. The primary end point was a composite of all-cause death, stroke and heart failure. The secondary end point was significant residual TR early and at 1 year after ASD closure.

Results

Transcatheter ASD closure alone and surgical ASD closure along with tricuspid annuloplasty (TAP) were performed in 68 and 184 patients, respectively. Significant TR remained in 32% (81/252) early after ASD closure and in 29% (52/182) after 1 year. The severity of TR was significantly decreased after transcatheter ASD closure (p<0.001). In multivariable analysis, TAP (OR 0.07; p<0.001) and ASD diameter (OR 0.90; p=0.040) were independent predictors of the significant residual TR early after treatment, while only TAP (OR 0.08; p<0.001) was a significant predictor at 1 year after treatment. After propensity score matching in patients with moderate or severe TR, there were no significant differences between the transcatheter ASD closure group and surgical ASD closure plus TAP group in terms of the event rates at 5 years (10.3% vs 5.5%, p=0.963).

Conclusions

While TAP was effective for the treatment of significant TR, transcatheter ASD closure also significantly reduced TR as well. Transcatheter ASD closure may be considered an alternative treatment option in patients with moderate or severe TR.
CDKN1Chyperexpression in two patients with severe growth failure and microdeletions affecting the paternally inheritedKCNQ1OT1:TSS-DMR
Authors: Hara-Isono Kaori , Yamazawa Kazuki , Tanaka Satsuki , Nishi Eriko , Fukami Maki , Kagami Masayo
Published: July 2022

Background

Two imprinting control centres,H19/IGF2:IG-differentialy methylated region (DMR) andKCNQ1OT1:TSS-DMR, reside on chromosome 11p15.5. Paternal deletions involving theKCNQ1OT1:TSS-DMR result in variable phenotypes, namely, normal phenotype, Silver-Russel syndrome (SRS) and fetal demise. However, expression analyses forCDKN1Cin these patients are very limited.

Cases

Patient 1 (adult woman) and patient 2 (boy in early childhood) showed prenatal and postnatal growth failure and clinical suspicion of SRS.

Molecular analyses

Both patients showed hypermethylation of theKCNQ1OT1:TSS-DMR caused by the paternal heterozygous de novo deletions involving theKCNQ1OT1:TSS-DMR, but not includingCDKN1Cenhancers. The deletion sizes were 5 kb and 12 kb for patients 1 and 2, respectively.CDKN1Cgene expressions in immortalised leucocytes of both patients were increased compared with those of controls.

Conclusion

Paternal deletions involving theKCNQ1OT1:TSS-DMR, but not includingCDKN1Cenhancers, disruptKCNQ1OT1expression, strongly activateCDKN1Cexpression and consequently cause severe growth failure.
New criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population survey
Authors: Beales P L , Elcioglu N , Woolf A S , Parker D , Flinter F A
Published: July 2022

Bardet-Biedl syndrome (BBS) is an autosomal recessive condition characterised by rod-cone dystrophy, postaxial polydactyly, central obesity, mental retardation, hypogonadism, and renal dysfunction. BBS expression varies both within and between families and diagnosis is often difficult. We sought to define the condition more clearly by studying 109 BBS patients and their families, the largest population surveyed to date. The average age at diagnosis was 9 years, which is late for such a debilitating condition, but the slow development of the clinical features of BBS probably accounts for this. Postaxial polydactyly had been present in 69% of patients at birth, but obesity had only begun to develop at around 2-3 years, and retinal degeneration had not become apparent until a mean age of 8.5 years. Our study identified some novel clinical features, including neurological, speech, and language deficits, behavioural traits, facial dysmorphism, and dental anomalies. In the light of these features we propose a revision of the diagnostic criteria, which may facilitate earlier diagnosis of this disorder. We present evidence for an overlapping phenotype with the Laurence-Moon syndrome and propose a unifying, descriptive label be adopted (polydactyly-obesity-kidney-eye syndrome).

 We report an increased prevalence of renal malformations and renal cell carcinoma in the unaffected relatives of BBS patients and suggest that these may be a consequence of heterozygosity for BBS genes. Our findings have important implications for the care of BBS patients and their unaffected relatives.
A gene for autosomal dominant hearing impairment (DFNA14) maps to a region on chromosome 4p16.3 that does not overlap the DFNA6 locus
Authors: Van Camp Guy , Kunst Henricus , Flothmann Kris , McGuirt Wyman , Wauters Jan , Marres Henri , Verstreken Margriet , Bespalova Irina N , Burmeister Margit , Van de Heyning Paul H , Smith Richard J H , Willems Patrick J , Cremers Cor W R J , Lesperance Marci M
Published: July 2022

Non-syndromic hearing impairment is one of the most heterogeneous hereditary conditions, with more than 40 reported gene localisations. We have identified a large Dutch family with autosomal dominant non-syndromic sensorineural hearing impairment. In most patients, the onset of hearing impairment is in the first or second decade of life, with a slow decline in the following decades, which stops short of profound deafness. The hearing loss is bilateral, symmetrical, and only affects low and mid frequencies up to 2000 Hz. In view of the phenotypic similarities of this family with an American family that has been linked to chromosome 4p16.3 (DFNA6), we investigated linkage to the DFNA6 region. Lod score calculations confirmed linkage to this region with two point lod scores above 6. However, as haplotype analysis indicated that the genetic defect in this family is located in a 5.6 cM candidate region that does not overlap the DFNA6 region, the new locus has been named DFNA14.
Clinical impact of whole-genome sequencing in patients with early-onset dementia
Authors: Huq Aamira J , Thompson Bryony , Bennett Mark F , Bournazos Adam , Bommireddipalli Shobhana , Gorelik Alexandra , Schultz Joshua , Sexton Adrienne , Purvis Rebecca , West Kirsty , Cotter Megan , Valente Giulia , Hughes Andrew , Riaz Moeen , Walsh Maie , Farrand Sarah , Loi Samantha M , Kilpatrick Trevor , Brodtmann Amy , Darby David , Eratne Dhamidhu , Walterfang Mark , Delatycki Martin Bruce , Storey Elsdon , Fahey Michael , Cooper Sandra , Lacaze Paul , Masters Colin L , Velakoulis Dennis , Bahlo Melanie , James Paul A , Winship Ingrid
Published: July 2022

Background

In the clinical setting, identification of the genetic cause in patients with early-onset dementia (EOD) is challenging due to multiple types of genetic tests required to arrive at a diagnosis. Whole-genome sequencing (WGS) has the potential to serve as a single diagnostic platform, due to its superior ability to detect common, rare and structural genetic variation.

Methods

WGS analysis was performed in 50 patients with EOD. Point mutations, small insertions/deletions, as well as structural variants (SVs) and short tandem repeats (STRs), were analysed. An Alzheimer’s disease (AD)-related polygenic risk score (PRS) was calculated in patients with AD.

Results

Clinical genetic diagnosis was achieved in 7 of 50 (14%) of the patients, with a further 8 patients (16%) found to have established risk factors which may have contributed to their EOD. Two pathogenic variants were identified through SV analysis. No expanded STRs were found in this study cohort, but a blinded analysis with a positive control identified aC9orf72expansion accurately. Approximately 37% (7 of 19) of patients with AD had a PRS equivalent to >90th percentile risk.

Discussion

WGS acts as a single genetic test to identify different types of clinically relevant genetic variations in patients with EOD. WGS, if used as a first-line clinical diagnostic test, has the potential to increase the diagnostic yield and reduce time to diagnosis for EOD.
Endovascular treatment of ruptured anterior communicating aneurysms: a 17-year institutional experience with coil embolization
Authors: Catapano Joshua S , Karahalios Katherine , Rumalla Kavelin , Srinivasan Visish M , Rutledge Caleb , Baranoski Jacob F , Cole Tyler S , Jadhav Ashutosh P , Ducruet Andrew F , Albuquerque Felipe C
Published: July 2022

Background

Ruptured anterior communicating artery (ACoA) aneurysms can be challenging to treat via an endovascular procedure. This study analyzed retreatment rates and neurological outcomes associated with ruptured ACoA aneurysms treated via endovascular coiling.

Methods

All patients with a ruptured ACoA aneurysm treated with endovascular coiling from 2003 to 2019 were retrospectively analyzed at a single center. Two comparisons were performed: no retreatment versus retreatment and coil embolization versus balloon-assisted coil embolization. Outcomes included retreatment and neurological outcome assessed via modified Rankin Scale (mRS).

Results

During the study period, 186 patients with ruptured ACoA aneurysms underwent coil embolization. Treatment included standard coil embolization (68.3%, n=127), balloon-assisted coiling (28.5%, n=53), and stent-assisted embolization (2.7%, n=5). Angiographic outcomes were as follows: class I, 65.1% (n=121); class II, 28.5% (n=53); and class III, 6.5% (n=12). There were no aneurysm reruptures after the index procedure. The mean (SD) mRS score was 2.7 (2.0) at last follow-up (mortality, 19 (10%)). Retreatment occurred in 9.7% (n=18). Patients with retreatment were younger with lower-grade subarachnoid hemorrhage and more favorable functional status at discharge. Patients with aneurysms >7 mm (n=36) were significantly more likely to have recurrence (22.2% vs 6.7%, P=0.005).

Conclusions

Endovascular treatment of ruptured ACoA aneurysms is safe and is associated with low mortality and retreatment rates. Younger patients with favorable functional status and larger aneurysm size are more likely to be retreated. Ruptured aneurysms <4 mm, although prevalent in the study (29%), never required retreatment.
Due-Window Assignment Methods and Scheduling with Generalized Positional-Dependent Weights
Authors: Wang Ji-Bo , Wang Si-Han , Cao Kaipeng , Liu Mengqi , Jia Xue
Published: July 2022

We focus on a single-machine scheduling problem with common and slack due-window assignment methods. Both the job sequence and due-windows are decision variables to be determined by the decision maker. We consider the following performance criterion: the total weighted number of early and late jobs plus the total weighted of earliness, tardiness and due-window assignment cost, where the weights depend on the position in which a job is scheduled. Some properties are established, and it is shown that the problem can be solved in [Formula: see text] time, where [Formula: see text] is the number of jobs. The extensions of the model are to cases of general position-dependent processing times and time-dependent processing times.
Traveling wave solutions of conformable Duffing model in shallow water waves
Authors: Cevikel Adem C.
Published: July 2022

The Duffing equation is a nonlinear second-order differential equation. The equation describes the motion of a damped oscillator with a more complicated potential than in simple harmonic motion; in physical terms, it models, for example, a spring pendulum whose spring stiffness does not exactly obey Hooke’s law. It is also an example of a dynamical system that exhibits chaotic behavior. Nonlinear equations, such as Duffing model, exhibit significant spectral energy transfer for finite amplitude waves in shallow areas above the flat seafloor. In this paper, a method is proposed to solve nonlinear conformable Duffing model. The solutions found are hyperbolic function solutions. These solutions are new solutions.
A Novel Multiscroll Memristive Hopfield Neural Network
Authors: Li Ronghao , Dong Enzeng , Tong Jigang , Wang Zenghui
Published: July 2022

Memristors are usually introduced into neuron models as neural synapses to investigate firing activities. In this paper, a novel generic memristor with smooth cosine memductance is proposed, and its dynamic characteristic concerning multistability, which is completely different from any known memristors, is analyzed and validated by numerical and PSIM simulations. The PSIM simulations intuitively reflect the memory properties of the constructed memristor emulator. To investigate the application of the proposed memristor, a multiscroll memristive Hopfield neural network is modeled by introducing the memristor into a tri-neuron Hopfield neural network as a synapse weight. Homogeneous single-scroll and double-scroll multistability phenomena are revealed by utilizing some analytical tools, such as bifurcation diagrams, local attraction basins, phase plane portraits, and so on. It is found that there is a multi-double-scroll attractor with growing scrolls for appropriate parameters. Furthermore, the average Hamiltonian energy, dependent on the homogeneous dynamics, is analyzed based on Helmholtz’s theorem. It is discovered that the homogeneous dynamics is closely related to the energy transition, which may provide a new explanation for the occurrence of multistability in the human brain. Finally, several circuit experiments are carried out to confirm the dynamical behaviors, and it is found that the circuit can show similar dynamics as the numerical simulations.
EPILEPTIC SEIZURE PREDICTION USING WAVELET TRANSFORM, FRACTAL DIMENSION, SUPPORT VECTOR MACHINE, AND EEG SIGNALS
Authors: PEREZ-SANCHEZ ANDREA V. , VALTIERRA-RODRIGUEZ MARTIN , PEREZ-RAMIREZ CARLOS A. , DE-SANTIAGO-PEREZ J. JESUS , AMEZQUITA-SANCHEZ JUAN P.
Published: July 2022

Epilepsy, a neurological disorder, affects millions of persons worldwide. It is distinguished by causing recurrent seizures in patients, which can conduct to severe health problems. Consequently, it is essential to offer a method capable of timely predicting a seizure before its appearance, so patients can avoid possible injuries by taking preventive action. In this sense, a method based on the integration of discrete wavelet transform (DWT), fractal dimension, and support vector machine (SVM) is presented for the prediction of an epileptic seizure up to 30[Formula: see text]min before its onset through the analysis of electroencephalogram (EEG) signals. DWT is initially applied to the EEG signals to obtain their main neurological bands; then, five fractal dimension indices (e.g. Sevcik, Petrosian, Box, Higuchi, and Katz) are explored as potential seizure indicators. Finally, an SVM is developed to predict the epileptic seizure automatically. The effectiveness of the proposal to predict an epileptic crisis is validated by employing a database of 14 subjects with 42 epileptic seizures provided by the Massachusetts Institute of Technology and the Children’s Hospital Boston. The results demonstrate that the proposal can predict an epileptic seizure up to 30[Formula: see text]min before its onset with a high accuracy of 93.33%.
COUPLED THERMAL-REACTIVE FLOW SIMULATION STUDY ON IN-SITU CONVERSION PROCESS OF LOW-MEDIUM MATURITY FRACTURED SHALE OIL RESERVOIR
Authors: WANG ZIJIE , YAO JUN , SUN HAI , LIU LIJUN , YAN XIA
Published: July 2022

The low-medium maturity shale oil in China has large resource potential. The occurrence state of such resource is mainly retained hydrocarbon and unconverted organic substance, making the in-situ conversion process a requisite technology. Meanwhile, the naturally fractured shale reservoir has multiple types of pore space, making the hydrothermal coupling process more complex. In this paper, a coupled thermal-reactive compositional flow model and numerical solution method is proposed. Specifically, the apparent permeability of fractured shale oil reservoir is derived based on fractal theory. Besides, the multistage parallel chemical kinetic reactions during in-situ conversion process and evolution of reservoir fluid composition and shale porosity are incorporated. Then the accuracy of the proposed model is tested through numerical cases. Finally, the impact of key operation parameters and fractal parameters on shale oil exploitation is analyzed, such as heating temperature, heating spacing, pore size fractal dimension, fracture length fractal dimension and tortuosity fractal dimension. The proposed model is capable of accurate and efficient prediction of the fractured low-medium maturity shale oil reservoir production.
DRILLING PARAMETRIC ANALYSIS OF PERFORATED COPPER FOIL ON HEMP/ SISAL FIBER COMPOSITE USING SEQUENTIAL ANN
Authors: KRISHNASAMY PRABU , GEETHA M. , RAJAMURUGAN G. , MURALIDHARAN B. , KRISHNAIAH RAVI
Published: July 2022

Innovation in developing optimized process parameters is vital to meet industrial demand in composite applications. Especially in the fiber composite drilling process, unexpected dimensional errors cause failure due to the anisotropic nature of cellulosic fibers and heterogeneity in reinforcement. A sequential artificial neural network (SANN) technique has been required for composite drilling to predict a wide range of operating conditions and analyze the dimensional imperfections. The work fabricates three different sisal/ copper foil/ hemp (SCH) hybrid composites with varying perforated copper foil pitches (10/20/30[Formula: see text]mm) designs. The drilling experiments were designed using a central composite design. The effect of experimental/ SANN input parameters [spindle speed, drill point angle (DPA) (92°, 112°, and 132°), composite type, feed rate] and output responses (thrust force, torque, and roundness) were analyzed. The SANN model was trained through the experimental data and verified with a test set of experiments. Finally, the proposed SANN model was used to predict the drilling responses at a lower limit to the higher operating range for 70 validation experiments. The interaction responses were analyzed using the response surface methodology technique between the drilling (Input/ Output) process parameters. The experimental results inferred that the SCH-3 type with a higher pitch between the perforations shows minor roundness error. A drill bit with higher DPA (132°) induces more delamination effects in the laminates. The validation experiments revealed that the predicted ANN data correlated with the experimental data with less than 2% mean absolute error.
Blowup and ill-posedness for the complex, periodic KdV equation
Authors: Bona J. L. , Weissler F. B.
Published: July 2022

This paper is concerned with complex-valued solutions of the Korteweg–de Vries equation. Interest will be focused upon the initial-value problem with initial data that is periodic in space. Derived here are results of local and global well-posedness, singularity formation in finite time and, perhaps surprisingly, results of non-existence. The overall picture is notably different from the situation that obtains for real-valued solutions.
Tightening and reversing the arithmetic-harmonic mean inequality for symmetrizations of convex sets
Authors: Brandenberg René , von Dichter Katherina , González Merino Bernardo
Published: July 2022

This paper deals with four symmetrizations of a convex set [Formula: see text]: the intersection, the harmonic and the arithmetic mean, and the convex hull of [Formula: see text] and [Formula: see text]. A well-known result of Firey shows that those means build up a subset-chain in the given order. On the one hand, we determine the dilatation factors, depending on the asymmetry of [Formula: see text], to reverse the containments between any of those symmetrizations. On the other hand, we tighten the relations proven by Firey and show a stability result concerning those factors near the simplex.
Free Vibration and Buckling Characteristics of Uniform Beam: A Modified Segmented Rod Method
Authors: Nikolić Aleksandar
Published: July 2022

This paper proposes a modified segmented rod method (MSRM) in order to facilitate the introduction of boundary conditions in the analysis of free vibrations and buckling of Euler–Bernoulli beams. First, the basic idea of proposed modifications is presented in the case of elementary length beam, and then the idea is generalized to the full-length beam. In addition to facilitating the introduction of boundary conditions, by comparing the results of MSRM with segmented rod method (SRM) and Hencky bar-chain method (HBM), a faster convergence of MSRM results to the exact ones was observed. Although the case of uniform beam is considered in this paper, proposed MSRM may contribute to greater use of segmented beam approach in solving of various static, free vibration or buckling problems of non-uniform beams. Also, it was shown that MSRM can be easily adapted for the analysis of beams that resting on partial elastic foundation.
Dynamic Snap-Through Instability of Hygro-Thermally Excited Functionally Graded Porous Arches
Authors: Faraji Oskouie M. , Zargar M. , Ansari R.
Published: July 2022

In this paper, the dynamic buckling of functionally graded (FG) porous shallow arches under hygro-thermal loading is studied through a numerical approach. Even and uneven porosity imperfections, hygroscopic stresses generated due to the nonlinear rise in moisture concentration, and the temperature dependence of material properties are all taken into account. The transient heat conduction equation is solved to derive the temperature profile. Hygro-thermo-mechanical properties of the arch are obtained applying the modified Voigt’s rule of mixture. The first-order shear deformation theory, the von-Kármán geometrical nonlinearity assumption, and the hygro-thermal strains are considered concomitantly to derive the equations of motions based on Hamilton’s principle. The generalized differential quadrature method (GDQM) and Newmark-beta integration schemes are also employed in conjunction with an iterative approach to solve the set of nonlinear governing differential equations of motion. The Budiansky–Hutchinson stability criterion is utilized to capture the dynamic buckling temperature of the structure. A parametric study is conducted in order to investigate the effects of porosity distribution, FG index, geometrical parameters, hygroscopic loading, and thermal/mechanical boundary conditions on arch’s dynamic buckling temperature.
Analysis on Mental Stress of Professionals and Pregnant Women Using Machine Learning Techniques
Authors: Ravikumar S. , Kannan E.
Published: July 2022

Stress is the way that everyone can respond actually, intellectually and sincerely to different conditions, changes and requests in our lives. Stress problems are a typical issue among working experts in the business today. With changing way of life and work societies, there is an expansion in the stress among the representatives. However, numerous ventures and corporate give emotional wellness-related plans and attempt to facilitate the work environment climate, the issue is a long way from control. When it comes to Pregnant Women, the uterus climate assumes a fundamental part in future development and improvement of hatchling. Stress during pregnancy will influence the sensitive climate of the hatchling. These can remember impacts for your unborn child’s development and the length of incubation period. They can likewise expand the danger of issues in your child’s future physical and mental turn of events, just as social issues in youth. By using various machine learning techniques, the proposed model can analyze the stress in a working professional and also in a pregnant woman. We can predict the best way of yoga to reduce their stress and get good work results from working employees and a good growth in fetus of a pregnant women. Yoga can positively affect the parasympathetic sensory system and helps in bringing down heartbeat and circulatory strain. This decreases the interest of the body for oxygen and furthermore increment lung limit. Compelling utilization of yoga can likewise decrease the odds of stress, nervousness and despondency.