bluuebunny/crossref_metadata_2025_split huggingface dataset:
Copy neutral absence of heterozygosity on chromosome 15 distal long arm: A surrogate marker for Prader–Willi/Angelman syndromes?
Authors: Ortega Veronica , Louie Raymond J. , Jones Melanie A. , Chaubey Alka , DuPont Barbara R. , Britt Allison , Ray Joseph , McLean Scott D. , Littlejohn Rebecca O. , Velagaleti Gopalrao 
Published: July 2021

Abstract
Background
Copy-neutral absence of heterozygosity (CN-AOH) observed on a single chromosome or part of a chromosome may be indicative of uniparental disomy (UPD) and may require additional testing when such chromosomes or chromosome regions are known to harbor imprinted genes.

Case presentation
Here we report 2 cases of neonates that presented to clinic with hypotonia, poor oral skills including inability to feed by mouth, weak cry, no response to noxious stimulation and vertical plantar creases (case 1) and hypotonia and respiratory distress (case 2). A preliminary chromosome analysis showed normal karyotypes in both cases while the high-resolution single nucleotide polymorphism (SNP) microarray showed copy neutral absence of heterozygosity involving chromosome 15 distal long arm. In case 1, the CN-AOH involved a 28.7 Mb block from genomic coordinates 73703619_102429049. In case 2, the CN-AOH involved a 15.3 Mb block from genomic coordinates 54729197_70057534. In both cases, methylation-specific PCR did not detect an unmethylated allele for the SNRPN gene suggesting either a deletion of paternal allele or maternal UPD for chromosome 15. Since microarray analysis did not show any copy number alterations on chromosome 15, a microdeletion was ruled out.

Conclusions
Based on our cases, we suggest that CN-AOH on chromosome 15, even if it does not involve the critical region of 15q12q13, should warrant additional studies for diagnosis of Prader–Willi/Angelman syndromes.
Decreased expression of the clock gene Bmal1 is involved in the pathogenesis of temporal lobe epilepsy
Authors: Wu Hao , Liu Yong , Liu Lishuo , Meng Qiang , Du Changwang , Li Kuo , Dong Shan , Zhang Yong , Li Huanfa , Zhang Hua 
Published: July 2021

AbstractClock genes not only regulate the circadian rhythm of physiological activities but also participate in the pathogenesis of many diseases. Previous studies have documented the abnormal expression of clock genes in epilepsy. However, the molecular mechanism of brain and muscle Arnt-like protein 1 (Bmal1), one of the core clock genes, in the epileptogenesis and seizures of temporal lobe epilepsy (TLE) remain unclear. We first investigated the levels of Bmal1 and other clock proteins in the hippocampus of subjects with epilepsy to define the function of Bmal1. The levels of Bmal1 were decreased during the latent and chronic phases in the experimental group compared with those in the control group. Knockout of Bmal1 in hippocampal dentate gyrus (DG) neurons of Bmal1flox/flox mice by Synapsin 1 (Syn1) promoter AAV (adeno-associated virus) lowered the threshold of seizures induced by pilocarpine administration. High-throughput sequencing analysis showed that PCDH19 (protocadherin 19), a gene associated with epilepsy, was regulated by Bmal1. PCDH19 expression was also decreased in the hippocampus of epileptic mice. Furthermore, the higher levels of Bmal1 and PCDH19 were detected in patients with no hippocampal sclerosis (no HS) than in patients with HS International League Against Epilepsy (ILAE) type I and III. Altogether, these data suggest that decreased expression of clock gene Bmal1 may participate in epileptogenesis and seizures via PCDH19 in TLE.
Protocol for a process evaluation of an external pilot cluster randomised controlled trial of a theory-based intervention to improve appropriate polypharmacy in older people in primary care: the PolyPrime study
Authors: Rankin Audrey , Molloy Gerard J. , Cadogan Cathal A. , Barry Heather E. , Gorman Ashleigh , Ryan Cristín , Ferrett Alan , McCarthy Pat , Gormley Gerard J. , Fahey Tom , Hughes Carmel M. ,   On behalf of the PolyPrime team
Published: July 2021

Abstract
Background
The PolyPrime intervention is a theory-based intervention aimed at improving appropriate polypharmacy in older people (aged ≥65 years) in primary care. The intervention consists of an online video which demonstrates how general practitioners (GPs) can prescribe appropriate polypharmacy during a consultation with an older patient and a patient recall process, whereby patients are invited to scheduled medication review consultations with GPs. The aim of the process evaluation is to further examine the implementation of the PolyPrime intervention in primary care. This will involve investigating whether the PolyPrime intervention can be delivered as intended across two healthcare systems, how acceptable the intervention is to GPs, practice staff and patients, and to identify the intervention’s likely mechanisms of action.

Methods
The PolyPrime study is an external pilot cluster randomised controlled trial (cRCT) which aims to recruit 12 GP practices across Northern Ireland [NI] (n=6) and the six counties in the Republic of Ireland (ROI) that border NI (n=6). Practices have been randomised to intervention or usual care. An embedded process evaluation will assess intervention fidelity (i.e. was the intervention delivered as intended), acceptability of the intervention to GPs, practice staff and patients and potential mechanisms of action (i.e. what components of the intervention were perceived to be effective). Quantitative data will be collected from data collection forms completed by GPs and practice staff and a feedback questionnaire completed by patients from intervention arm practices, which will be analysed using descriptive statistics. Qualitative data will be collected through semi-structured interviews with GPs and practice staff and audio-recordings of medication review appointments from the intervention arm practices which will be transcribed and analysed using the framework method. Quantitative and qualitative data will be triangulated to provide an overall assessment of intervention fidelity, intervention acceptability, and mechanisms of action.

Discussion
This process evaluation will add to feasibility data from the pilot cRCT by providing evidence on the fidelity of implementing the intervention package across two healthcare systems, the acceptability of the intervention and potential mechanisms of action.

Trial registration
ClinicalTrials.govISRCTN41009897. Registered on 19 November 2019. ClinicalTrials.govNCT04181879. Registered 02 December 2019.
Intradermal acupuncture for rheumatoid arthritis: study protocol for a randomised controlled trial
Authors: Luo Huifang , Peng Jie , Ma Qing , Wei Zhihua , Lin Changsong , Zhang Mingying , Li Peiwu , Song Yang , Yang Xiangwei 
Published: July 2021

AbstractBackgroundRheumatoid arthritis (RA) is a common autoimmune disease that severely impacts quality of life. Currently available medications for the treatment of RA have adverse side effects. Emerging evidence suggests that intradermal acupuncture (IA) is feasible and safe for patients, but its application in RA patients has not been examined. Our study aims to explore the efficacy and safety of IA for the treatment of RA.MethodsThis study is a randomised, sham-controlled, patient-outcome assessor-statistician blind trial that aims to evaluate the effects of IA in patients with RA. We will recruit 132 patients aged ≥ 18 years with a diagnosis of RA. Patients will be randomly allocated with a 1:1 ratio to IA or sham IA groups. Both groups will receive basic treatment and nursing routines for RA. The experimental group will receive actual IA treatment, whereas the control group will receive sham IA treatment. All patients will receive one course of treatment (i.e., four consecutive treatment sessions with an intervening 1-day interval). Primary outcomes will be traditional Chinese medicine (TCM) syndromes before and after a treatment course and Health Assessment Questionnaire (HAQ) scores. Secondary outcomes will be disease activity score 28 (DAS28) and levels of serum C-reactive protein (CRP). Outcome measures will be collected pre- and post-treatment.DiscussionThis study aims to provide high-quality evidence for the efficacy and safety of IA for treating RA. In addition, the results will provide references for selection of acupoints for other syndromes in clinical practice.Trial registrationChinese Clinical Trial RegistryChiCTR2000038028. Registered on 8 September 2020.
Haplotype-resolved germline and somatic alterations in renal medullary carcinomas
Authors: Tan Kar-Tong , Kim Hyunji , Carrot-Zhang Jian , Zhang Yuxiang , Kim Won Jun , Kugener Guillaume , Wala Jeremiah A. , Howard Thomas P. , Chi Yueh-Yun , Beroukhim Rameen , Li Heng , Ha Gavin , Alper Seth L. , Perlman Elizabeth J. , Mullen Elizabeth A. , Hahn William C. , Meyerson Matthew , Hong Andrew L. 
Published: July 2021

Abstract
Background
Renal medullary carcinomas (RMCs) are rare kidney cancers that occur in adolescents and young adults of African ancestry. Although RMC is associated with the sickle cell trait and somatic loss of the tumor suppressor, SMARCB1, the ancestral origins of RMC remain unknown. Further, characterization of structural variants (SVs) involving SMARCB1 in RMC remains limited.

Methods
We used linked-read genome sequencing to reconstruct germline and somatic haplotypes in 15 unrelated patients with RMC registered on the Children’s Oncology Group (COG) AREN03B2 study between 2006 and 2017 or from our prior study. We performed fine-mapping of the HBB locus and assessed the germline for cancer predisposition genes. Subsequently, we assessed the tumor samples for mutations outside of SMARCB1 and integrated RNA sequencing to interrogate the structural variants at the SMARCB1 locus.

Results
We find that the haplotype of the sickle cell mutation in patients with RMC originated from three geographical regions in Africa. In addition, fine-mapping of the HBB locus identified the sickle cell mutation as the sole candidate variant. We further identify that the SMARCB1 structural variants are characterized by blunt or 1-bp homology events.

Conclusions
Our findings suggest that RMC does not arise from a single founder population and that the HbS allele is a strong candidate germline allele which confers risk for RMC. Furthermore, we find that the SVs that disrupt SMARCB1 function are likely repaired by non-homologous end-joining. These findings highlight how haplotype-based analyses using linked-read genome sequencing can be applied to identify potential risk variants in small and rare disease cohorts and provide nucleotide resolution to structural variants.
Multi-user hybrid precoding for mmWave massive MIMO systems with sub-connected structure
Authors: Du Jianhe , Wang Zekun , Zhang Yang , Guan Yalin , Jin Libiao 
Published: July 2021

AbstractHybrid precoding achieves a compromise between the sum rate and hardware complexity of millimeter wave (mmWave) massive multiple-input multiple-output (MIMO) systems.
However, most prior works on multi-user hybrid precoding only consider the full-connected structure. In this paper, a novel multi-user hybrid precoding algorithm is proposed for the sub-connected structure. Based on the improved successive interference cancellation (SIC), the analog precoding matrix optimization problem is decomposed into multiple analog precoding sub-matrix optimization problems. Further, a near-optimal analog precoder is designed through factorizing the precoding sub-matrix for each sub-array. Furthermore, digital precoding is designed according to the block diagonalization (BD) technology. Finally, the water-filling power allocation method is used to further improve the communication quality. The extensive simulation results demonstrate that the sum rate of the proposed algorithm is higher than the existing hybrid precoding methods with the sub-connected structure, and has higher energy efficiency compared with existing approaches. Moreover, the proposed algorithm is closer to the state-of-the-art optimization approach with the full-connected structure. In addition, the simulation results also verify the effectiveness of the proposed hybrid precoding design of the uniform planar array (UPA).
Consumer perceptions of food safety in animal source foods choice and consumption in Nairobi’s informal settlements
Authors: Bukachi Salome A. , Ngutu Mariah , Muthiru Ann W. , Lépine Aurélia , Kadiyala Suneetha , Domínguez-Salas Paula 
Published: July 2021

Abstract
Background
Animal-source foods (ASFs) are high-quality nutrient-dense products key to reducing stunting and micronutrient deficiencies. However, their consumption among the poorest households in urban informal settlements is low. Several drivers beyond price, including health considerations have been reported to drive ASF choice and consumption among consumers. This current study explores consumer perceptions of food safety associated with animal source foods (ASFs) consumption in urban informal settlements with a view to unpacking the health considerations driving their choice and consumption.

Methods
Coupled households with children 6–59 months formed the study sample. The Food Environments Working Group (FEWG) Framework of the Agriculture and Nutrition for Health academy (ANH) was used to guide the study which utilized qualitative methods namely, 60 in-depth interviews (IDIs), 19 focus group discussions, and 19 key informant interviews (KIIs) complemented by unstructured observations. Data were transcribed and analysed according to emerging themes.

Results
Consumer perceptions of food safety are driven by concerns about food production, processing, handling, storage and the health risks associated with consumption of the ASFs. For all the ASFs, lack of traceability of source, unhygienic environments in which they were sold and health risks around consuming too much or improperly cooked products were key perceptions from the community. To mitigate against food safety risks, consumers used strategies such as boiling the ASFs, purchasing their products from trusted retailers, avoiding vendors in unhygienic environments and reducing the amount and frequency of consumption of ASFs or totally avoiding their consumption.
These consumer perceptions are increasingly influencing the ASFs choice and consumption in low-income populations besides other drivers. Notably, given limited incomes that influence their purchasing power and the need for nutritious diets that included ASFs, the dilemma of quality vis-a-vis quantity persists and consumers still accessed and consumed these ASF products to supplement their diets.

Conclusions
To enhance food safety for ASFs, as well as assure consumer access to safe ASFs from informal markets, there is need to contextualize the value chain as informed by consumer perceptions on food safety as these influence their ASFs choice and consumption.
Revisiting level II sleep studies in the era of COVID-19: a theoretical economic decision model in patients with suspected obstructive sleep apnea
Authors: Ayas Najib T. , Jen Rachel , Baumann Brett 
Published: July 2021

Abstract
Background
The recent pandemic has made it more challenging to assess patients with suspected obstructive sleep apnea (OSA) with in laboratory polysomnography (PSG) due to concerns of patient and staff safety. The purpose of this study was to assess how Level II sleep studies (LII, full PSG in the home) might be utilized in diagnostic algorithms of suspected OSA using a theoretical decision model.

Methods
We examined four diagnostic algorithms for suspected OSA: an initial PSG approach, an initial LII approach, an initial Level III approach (LIII, limited channel home sleep study) followed by PSG if needed, and an initial LIII approach followed by LII if needed. Costs per patient assessed was calculated as a function of pretest OSA probability and a variety of other variables (e.g. costs of tests, failure rate of LIII/LII, sensitivity/specificity of LIII). The situation in British Columbia was used as a case study.

Results
The variation in cost per test was calculated for each algorithm as a function of the above variables. For British Columbia, initial LII was the least costly across a broad range of pretest OSA probabilities (< 0.80) while initial LIII followed by LII as needed was least costly at very high pretest probability (> 0.8). In patients with a pretest OSA probability of 0.5, costs per patient for initial PSG, initial LII, initial LIII followed by PSG, and initial LIII followed by LII were: $588, $417, $607, and $481 respectively.

Conclusions
Using a theoretical decision model, we developed a preliminary cost framework to assess the potential role of LII studies in OSA assessment. Across a broad range of patient pretest probabilities, initial LII studies may provide substantial cost advantages. LII studies might be especially useful during pandemics as they combine the extensive physiologic information characteristic of PSG with the ability to avoid in-laboratory stays. More empiric studies need to be done to test these different algorithms.
Quality of life assessments in clinical practice using either the EORTC-QLQ-C30 or the SEIOQL-DW: a randomized study
Authors: Kettis Åsa , Fagerlind Hanna , Frödin Jan-Erik , Glimelius Bengt , Ring Lena 
Published: July 2021

Abstract
Background
Effective patient-physician communication can improve patient understanding, agreement on treatment and adherence. This may, in turn, impact on clinical outcomes and patient quality of life (QoL). One way to improve communication is by using patient-reported outcome measures (PROMs). Heretofore, studies of the impact of using PROMs in clinical practice have mostly evaluated the use of standardized PROMs. However, there is reason to believe that individualized instruments may be more appropriate for this purpose.
The aim of this study is to compare the effectiveness of the standardized QoL-instrument, the European Organization for Research and Treatment of Cancer Quality of Life C-30 (EORTC-QOL-C30) and the individualized QoL instrument, the Schedule for the Evaluation of Individual Quality of Life-Direct Weighting (SEIQoL-DW), in clinical practice.

Methods
In a prospective, open-label, controlled intervention study at two hospital out-patient clinics, 390 patients with gastrointestinal cancer were randomly assigned either to complete the EORTC-QOL-C30 or the SEIQoL-DW immediately before the consultation, with their responses being shared with their physician. This was repeated in 3–5 consultations over a period of 4–6 months. The primary outcome measure was patients’ health-related QoL, as measured by FACIT-G. Patients’ satisfaction with the consultation and survival were secondary outcomes.

Results
There was no significant difference between the groups with regard to study outcomes. Neither intervention instrument resulted in any significant changes in health-related QoL, or in any of the secondary outcomes, over time. This may reflect either a genuine lack of effect or sub-optimization of the intervention. Since there was no comparison to standard care an effect in terms of lack of deterioration over time cannot be excluded.

Conclusions
Future studies should focus on the implementation process, including the training of physicians to use the instruments and their motivation for doing so. The effects of situational use of standardized or individualized instruments should also be explored. The effectiveness of the different approaches may depend on contextual factors including physician and patient preferences.
Economic study for blend membrane production
Authors: El-Gendi A. , Abdallah H. , Amin A. 
Published: July 2021

Abstract
Background
In this work, an economic study for production reverse osmosis (RO) membrane from a blend of polyvinylchloride (PVC) with cellulose acetate (CA) was investigated. The model for predicting RO membrane performance was developed based on laboratory experimental data. The economic study was conducted to investigate the feasibility of producing blend RO polyvinylchloride/cellulose acetate (PVC/CA) membrane using a large-scale batch casting machine was developed and fabricated in workshop in the National Research Centre, Egypt.

Results
The cost of the prepared blend membrane using batch casting machine technique reached to 36 $/m2 for flat sheet polymeric membrane which was cheaper than the cost of sheets of commercial RO membranes. The original capital investment will be recovered in 7.5 years with estimation of machine lifetime 25 years.

Conclusions
The economic study revealed that the establishing small factories to produce blend membranes using the fabricated machine is a promising and will create a reasonable profit.
Fetal imaging of a rare case of dural sinus malformation: a case report
Authors: Kaushik Kavya S. , Acharya Ullas V. , Ananthasivan Rupa , Girishekar Bhavana , Kalidindi Priyanka , Patil Pooja G. 
Published: July 2021

Abstract
Background
Dural sinus malformations (DSM) are rare congenital anomalies, accounting for less than 2% of all intracranial vascular malformations. Fetal MRI plays an important role in the confirmation of the diagnosis, prognostication, and planning of treatment strategies. Here, we present a rare case of dural sinus malformation without thrombosis, diagnosed by prenatal ultrasound and fetal MRI. In addition to this, fetal intracranial 3D gradient recalled echo Dixon-based MRA was done which, to the best of our knowledge, is a first.

Case presentation
A 24-year-old multigravida with no known comorbidities underwent a routine second trimester anomaly scan in which an unusual posterior interhemispheric cyst was diagnosed. Further evaluation with fetal MRI revealed dilated posterior sinuses and torcula, normal internal jugular vein, and maintained flow voids with no mass effect. Fetal Dixon-based MRA and correlated Doppler revealed supply to the lesion by bilateral occipital arteries and posterior cerebral arteries. With these imaging features, a midline dural sinus malformation was diagnosed.

Conclusion
Dural sinus malformations should be considered in the differential diagnosis of unusual posterior fossa cystic lesions detected on antenatal ultrasound coupled with a colour Doppler examination. Prompt fetal MRI is essential to establish the diagnosis, identify intracranial complications and decide the postnatal treatment strategy, thereby possibly improving the postnatal outcome.