bluuebunny/crossref_metadata_2025_split huggingface dataset:
A serendipitous journey to a promoter variant: The c.‐106C>A variant and its role in late‐onset ornithine transcarbamylase deficiency
Authors: Hertzog Ashley , Selvanathan Arthavan , Halligan Rebecca , Fazio Timothy , de Jong Gerard , Bratkovic Drago , Bhattacharya Kaustuv , Tolun Adviye Ayper , Bennetts Bruce , Fisk Katrina 
Published: April 2022

AbstractOrnithine transcarbamylase deficiency (OTCD) is an X‐linked urea cycle disorder characterised by reduced or absent OTC enzyme activity, resulting in the accumulation of neurotoxic ammonia. Approximately 80%–90% of the causative variants are identified by Sanger sequencing or multiplex ligation‐dependent probe amplification (MLPA) of the OTC gene. A 23‐year‐old male with biochemical evidence of OTCD was referred for molecular analysis. Initial Sanger sequencing yielded no pathogenic variants. MLPA testing raised suspicion of a mosaic deletion of exon 1; however, high‐resolution microarray did not identify a copy number variant on the X chromosome. Sequencing over the suspected breakpoint detected a hemizygous likely pathogenic promoter variant, c.‐106C > A, which was located within the MLPA probe binding site. Subsequently, historical patients referred to our centre, without a molecular aetiology for their OTCD, were re‐sequenced with these primers and this variant was also identified in two additional unrelated males. All three patients described in this case series have the late‐onset disease. Two presented at 5 years of age with vomiting, whilst the other was managed from birth based on a family history of late‐onset OTCD. One patient required liver transplantation due to recurrent decompensations; the other two are managed with a protein‐restricted diet. All three patients have not sustained any significant neurological insults and are functioning well as adults. These cases support screening of the promoter region within the OTC gene, particularly if a molecular basis has not been elucidated by MLPA or sequencing of the coding regions.
Admission hyperglycemia in acute myocardial infarction is associated with an increased risk of arrhythmias: A systematic review and meta‐analysis
Authors: Trongtorsak Angkawipa , Kewcharoen Jakrin , Thangjui Sittinun , Yanez‐Bello Maria Adriana , Sous Mina , Prasai Paritosh , Navaravong Leenhapong 
Published: April 2022

AbstractBackgroundAdmission hyperglycemia (AH) has shown to be associated with higher mortality rates in acute myocardial infarction (AMI). Malignant arrhythmia is one of the causes of death in AMI; however, it is unclear whether AH is associated with an increased arrhythmia risk. We conducted this systematic review and meta‐analysis to assess the association between AH and arrhythmias in AMI.MethodsWe searched MEDLINE, and Embase databases from inception to September 2021 to identify studies that compared arrhythmia rates between AMI patients with AH and those without. Arrhythmias of interest included ventricular tachyarrhythmias (VA), atrial fibrillation (AF), and atrioventricular block.ResultsThirteen cohort studies with a total of 12,898 patients were included. AH was associated with a higher risk of overall arrhythmias (18% vs 10.3%, pooled odds ratio [OR] = 1.89, 95% confidence interval [CI]: 1.39–2.56, P < .001), VA (16.4% vs 11.1%, pooled OR = 1.56, 95% CI: 1.11–2.18, P = .01), and new onset AF (17.8% vs 6.4%, pooled OR = 2.13, 95% CI: 1.4–3.25, P < .0010. Subgroup analysis of diabetes status regarding overall arrhythmias showed that the increased risk of arrhythmias in the AH group was consistent in both patients with a history of diabetes (18% vs 12.5%, pooled OR = 2.33, 95%CI: 1.2–4.52, P = .004) and without (15.7%. vs 9% pooled OR = 1.35, 95% CI: 1.1–1.66, P = .013).ConclusionAdmission hyperglycemia in AMI was associated with the increased risk of arrhythmias, regardless of history of diabetes mellitus.
Dynamic Volumetric Computed Tomography Angiography is an Effective Method to Evaluate Tracheomalacia in Children
Authors: Koenigs Maria , Young Cody , Lillis Anna , Morrison Jessica , Kelly Natalie , Elmaraghy Charles , Krishnamurthy Rajesh , Chiang Tendy 
Published: April 2022

ObjectiveStandard methods to evaluate tracheal pathology in children, including bronchoscopy, may require general anesthesia. Conventional dynamic proximal airway imaging in noncooperative children requires endotracheal intubation and/or medically induced apnea, which may affect airway mechanics and diagnostic performance. We describe a technique for unsedated dynamic volumetric computed tomography angiography (DV‐CTA) of the proximal airway and surrounding vasculature in children and evaluate its performance compared to the reference‐standard of rigid bronchoscopy.MethodsChildren who had undergone DV‐CTA and bronchoscopy in one‐year were retrospectively identified. Imaging studies were reviewed by an expert reader blinded to the bronchoscopy findings of primary or secondary tracheomalacia. Airway narrowing, if present, was characterized as static and/or dynamic, with tracheomalacia defined as >50% collapse of the tracheal cross‐sectional area in exhalation. Pearson correlation was used for comparison.ResultsOver a 19‐month period, we identified 32 children (median age 8 months, range 3–14 months) who had undergone DV‐CTA and bronchoscopy within a 90‐day period of each other. All studies were unsedated and free‐breathing. The primary reasons for evaluation included noisy breathing, stridor, and screening for tracheomalacia. There was excellent agreement between DV‐CTA and bronchoscopy for diagnosis of tracheomalacia (κ = 0.81, p < 0.001), which improved if children (n = 25) had the studies within 30 days of each other (κ = 0.91, p < 0.001). CTA provided incremental information on severity, and cause of secondary tracheomalacia.ConclusionFor most children, DV‐CTA requires no sedation or respiratory manipulation and correlates strongly with bronchoscopy for the diagnosis of tracheomalacia.Level of Evidence3 Laryngoscope, 133:410–416, 2023
Fock and Hardy spaces: Clifford Appell case
Authors: Alpay Daniel , Diki Kamal , Sabadini Irene 
Published: April 2022

AbstractIn this paper, we study a specific system of Clifford–Appell polynomials and, in particular, their product. Moreover, we introduce a new family of quaternionic reproducing kernel Hilbert spaces in the framework of Fueter regular functions. The construction is based on a general idea which allows us to obtain various function spaces by specifying a suitable sequence of real numbers. We focus on the Fock and Hardy cases in this setting, and we study the action of the Fueter mapping and its range.
Framed motivic Donaldson–Thomas invariants of small crepant resolutions
Authors: Cazzaniga Alberto , Ricolfi Andrea T. 
Published: April 2022

AbstractFor an arbitrary integer , we compute r‐framed motivic DT and PT invariants of small crepant resolutions of toric Calabi–Yau 3‐folds, establishing a “higher rank” version of the motivic DT/PT wall‐crossing formula. This generalises the work of Morrison and Nagao. Our formulae, in particular their relationship with the theory, fit nicely in the current development of higher rank refined DT invariants.
Profiling of circulating chromosome 21‐encoded microRNAs, miR‐155, and let‐7c, in down syndrome
Authors: Pérez‐Villarreal Jesús Manuel , Aviña‐Padilla Katia , Beltrán‐López Evangelina , Guadrón‐Llanos Alma Marlene , López‐Bayghen Esther , Magaña‐Gómez Javier , Meraz‐Ríos Marco Antonio , Varela‐Echavarría Alfredo , Angulo‐Rojo Carla 
Published: April 2022

AbstractBackgroundDown syndrome (DS) is the most common chromosomal survival aneuploidy. The increase in DS life expectancy further heightens the risk of dementia, principally early‐onset Alzheimer's disease (AD). AD risk in DS is higher, considering that this population may also develop metabolic diseases such as obesity, dyslipidemias, and diabetes mellitus. The extra genetic material that characterizes DS causes an imbalance in the genetic dosage, including over‐expression of AD's key pathophysiological molecules and the gene expression regulators, the microRNAs (miRNAs). Two miRNAs, chromosome 21‐encoded, miR‐155, and let‐7c, are associated with cognitive impairment and dementia in adults; but, expression dynamics and relationship with clinical variables during the DS's lifespan had remained hitherto unexplored.MethodsThe anthropometric, clinical, biochemical, and profile expression of circulating miR‐155 and let‐7c were analyzed in a population of 52 control and 50 DS subjects divided into the young group (Aged ≤20 years) and the adult group (Aged ≥21 years).ResultsThe expression changes for miR‐155 were not significant; nevertheless, a negative correlation with HDL‐Cholesterol concentrations was observed. Notably, let‐7c was over‐expressed in DS from young and old ages.ConclusionOverall, our results suggest that let‐7c plays a role from the early stages of DS's cognitive impairment while overexpression of miR‐155 may be related to lipid metabolism changes. Further studies of both miRNAs will shed light on their potential as therapeutic targets to prevent or delay DS's cognitive impairment.
Analysis of etalon filter in quantum memory
Authors: Li Ruiyang , Lei Xing , Ma Lixia , Yan Zhihui , Jia Xiaojun 
Published: April 2022

AbstractFor quantum on‐demand storage and retrieval of nonclassical light, the memory noise at shot noise limit is a necessary condition. And an optical filter is widely used to filter out the strong control mode when the signal mode is maintained. Thus we construct and analyze an etalon filter with the planar monolithic geometry. The signal mode resonant with the etalon is selected and the unwanted modes are filtered out by precisely controlling the etalon temperature. The noise suppression factor for control mode is 0.053 while the transmissivity for signal mode is 97% with a fluctuation of 1.7% within 30 min. Our analysis can provide a direct reference for optimizing the performance of quantum memory.
Photo‐isomerization, photodimerization, and photodegradation polyimides for a liquid crystal alignment layer
Authors: Sugiyama Hitoshi , Sato Shuichi , Nagai Kazukiyo 
Published: April 2022

AbstractWe review the important features of LC orientation for the alignment layer, namely, production method, alignment mechanisms, and required properties. Photoalignment, which could eliminate the disadvantages of the rubbing method is explored. Applicable materials and techniques for photoalignment are also examined. Many materials for photoalignment layers have been proposed, but polyimide‐based materials are commonly used because of their transparency and insulation properties, which are needed for optical electronic devices. Furthermore, photoisomerization, photodimerization, and photodecomposition as photoalignment methods are reviewed, and specific photoreactive groups and alignment mechanisms are used to induce LC alignment. In summary, polyimides cause photodecomposition and have the following disadvantages; (1) requirement of relatively short‐wavelength ultraviolet (UV) irradiation, (2) difficulty in reorienting polymer chains owing to their rigid polymer matrix, and (3) low‐photo reactivities. The solutions for each disadvantage are already proposed, but the required properties should be determined during material design. Polyimide‐based materials introduced with the azobenzene and cinnamate groups are proposed and found to have the ability of fulfilling the required properties. The mechanism of polyimide photodecomposition is not fully understood. It likely has the advantage in terms of LC alignment stability because of the absence of E/Z isomerization. Therefore, the alignment mechanism and availabilities should be further explored.
Fetal central nervous system anomalies: When should we offer exome sequencing?
Authors: Baptiste Caitlin , Mellis Rhiannon , Aggarwal Vimla , Lord Jenny , Eberhardt Ruth , Kilby Mark D. , Maher Eamonn R. , Wapner Ronald , Giordano Jessica , Chitty Lyn 
Published: April 2022

AbstractObjectiveTo investigate the detection of pathogenic variants using exome sequencing in an international cohort of fetuses with central nervous system (CNS) anomalies.MethodsWe reviewed trio exome sequencing (ES) results for two previously reported unselected cohorts (Prenatal Assessment of Genomes and Exomes (PAGE) and CUIMC) to identify fetuses with CNS anomalies with unremarkable karyotypes and chromosomal microarrays. Variants were classified according to ACMG guidelines and association of pathogenic variants with specific types of CNS anomalies explored.ResultsES was performed in 268 pregnancies with a CNS anomaly identified using prenatal ultrasound. Of those with an isolated, single, CNS anomaly, 7/97 (7.2%) had a likely pathogenic/pathogenic (LP/P) variant. This includes 3/23 (13%) fetuses with isolated mild ventriculomegaly and 3/10 (30%) fetuses with isolated agenesis of the corpus callosum.Where there were multiple anomalies within the CNS, 12/63 (19%) had LP/P variants. Of the 108 cases with CNS and other organ system anomalies, 18 (16.7%) had LP/P findings.ConclusionES is an important tool in the prenatal evaluation of fetuses with any CNS anomaly. The rate of LP/P variants tends to be highest in fetuses with multiple CNS anomalies and multisystem anomalies, however, ES may also be of benefit for isolated CNS anomalies.
Evidence for isokinetic and functional testing in return to sport decisions following ACL surgery
Authors: Rivera‐Brown Anita M. , Frontera Walter R. , Fontánez Richard , Micheo William F. 
Published: April 2022

AbstractThe rupture and reconstruction of the anterior cruciate ligament (ACL) of the knee are associated with an increased risk of functional instability, a reduction in sports performance, and a higher risk of future additional injuries. Competitive athletes who participate in sports that require pivoting, cutting, and jumping are at particularly high risk for ACL rupture. The return to sport progression continuum after surgery includes sports‐specific rehabilitation, evaluation of strength and function, gradual participation in exercise training with progressively challenging activities in the field of play, participation in sports at a lower level, and finally a return to preinjury‐level sports competition. This narrative review evaluates the evidence that supports the use of quadriceps and hamstrings isokinetic strength testing and sports‐specific functional skills assessments to evaluate progress with rehabilitation after ACL surgery. Strength evaluations, hop tests, agility tests, and the limb symmetry index are described, as well as the associations of quadriceps and hamstrings muscle strength and functional test results with successful return to sports and the risk of ACL graft rupture and contralateral knee injuries. Suggestions for future research directions are presented including the importance of presurgery testing, standardization of test batteries, and comparison of test results with normative data.
Noncommutativity and Nonassociativity of Type II Superstring with Coordinate Dependent RR Field
Authors: Nikolić B. , Obrić D. , Sazdović B. 
Published: April 2022

AbstractIn this paper we will consider noncommutativity that arises from bosonic T‐dualization of type II superstring in presence of Ramond‐Ramond (RR) field, which linearly depends on the bosonic coordinates . The derivative of the RR field is infinitesimal. We will employ generalized Buscher procedure that can be applied to cases that have coordinate dependent background fields. Bosonic part of newly obtained T‐dual theory is non‐local. It is defined in non‐geometric space spanned by Lagrange multipliers . We will apply generalized Buscher procedure once more on T‐dual theory and prove that original theory can be salvaged. Finally, we will use T‐dual transformation laws along with Poisson brackets of original theory to derive Poisson bracket structure of T‐dual theory and nonassociativity relation. Noncommutativity parameter depends on the supercoordinates , and , while nonassociativity parameter is a constant tensor containing infinitesimal .
Effects of anti‐Leishmania compounds in the behavior of the sand fly vector Lutzomyia longipalpis
Authors: Ferreira Tainá Neves , Brazil Reginaldo Peçanha , McDowell Mary Ann , Cunha‐Júnior Edézio Ferreira , Costa Paulo Roberto Ribeiro , Netto Chaquip Daher , Santos Eduardo Caio Torres , Genta Fernando Ariel 
Published: April 2022

AbstractBACKGROUNDLeishmaniasis is an infectious parasitic disease caused by pathogens of the genus Leishmania transmitted through the bite of adult female sand flies. To reduce case numbers, it is necessary to combine different control approaches, especially those aimed at the sand fly vectors. Innovative forms of control with the use of attractive sugar baits explored the fact that adult sand flies need to feed on sugars of plant origin. Leishmania parasites develop in the gut of sand flies, interacting with the sugars in the diet of adults. Recent studies have shown that sugar baits containing plant‐derived compounds can reduce sand fly survival, the number of parasites per gut, and the percentage of infected sand flies. Several synthetic compounds produced from naphthoquinones and pterocarpans have anti‐parasitic activity on Leishmania amazonensis and/or Leishmania infantum in cell culture. This work aimed to assess the inclusion of these compounds in sugar baits for blocking transmission, targeting the development of the Leishmania parasite inside the sand fly vector.RESULTSWe evaluated the attractant or repellent properties of these compounds, as well as of the reference compound N,N′‐diethyl‐m‐toluamide (DEET), in sugar baits. We also observed changes in feeding preference caused by these compounds, looking for anti‐feeding or stimulation of ingestion. Pterocarpanquinone L4 and pentamidine showed attractant and repellent properties, respectively.CONCLUSIONBased on the effects in feeding preference and intake volume, pterocarpanquinone L6, and the pyrazole‐derived compound P8 were chosen as the most promising compounds for the future development of anti‐Leishmania sugar baits. © 2022 The Authors. Pest Management Science published by John Wiley & Sons Ltd on behalf of Society of Chemical Industry.
Quantitative methods and modeling to assess COVID‐19‐interrupted in vivo pharmacokinetic bioequivalence studies with two reference batches
Authors: Gong Yuqing , Feng Kairui , Zhang Peijue , Lee Jieon , Pan Yuzhuo , Zhang Zhen , Ni Zhanglin , Bai Tao , Yoon Miyoung , Li Bing , Kim Carol Y. , Fang Lanyan , Zhao Liang 
Published: April 2022

AbstractThe coronavirus disease 2019 (COVID‐19) has presented unprecedented challenges to the generic drug development, including interruptions in bioequivalence (BE) studies. Per guidance published by the US Food and Drug Administration (FDA) during the COVID‐19 public health emergency, any protocol changes or alternative statistical analysis plan for COVID‐19‐interrupted BE study should be accompanied with adequate justifications and not lead to biased equivalence determination. In this study, we used a modeling and simulation approach to assess the potential impact of study outcomes when two different batches of a Reference Standard (RS) were to be used in an in vivo pharmacokinetic BE study due to the RS expiration during the COVID‐19 pandemic. Simulations were performed with hypothetical drugs under two scenarios: (1) uninterrupted study using a single batch of an RS, and (2) interrupted study using two batches of an RS. The acceptability of BE outcomes was evaluated by comparing the results obtained from interrupted studies with those from uninterrupted studies. The simulation results demonstrated that using a conventional statistical approach to evaluate BE for COVID‐19‐interrupted studies may be acceptable based on the pooled data from two batches. An alternative statistical method which includes a “batch” effect to the mixed effects model may be used when a significant “batch” effect was found in interrupted four‐way crossover studies. However, such alternative method is not applicable for interrupted two‐way crossover studies. Overall, the simulated scenarios are only for demonstration purpose, the acceptability of BE outcomes for the COVID19‐interrupted studies could be case‐specific.
A critical review on clinical evidence of the efficacy of lavender in sleep disorders
Authors: Luo Jing , Jiang Wubian 
Published: April 2022

AbstractSleep disorders are one of the most prevalent psychiatric diseases. Insomnia is the most common sleep disorder amongst the general population. It is also one of the most frequent complaints in primary healthcare centers. Lavender is called “the broom of the brain” in different oriental traditional medicines. It is one of the most used plants for patients with sleep disorders. This study reviews what is currently known about the use of lavender for sleep disorders in patients with different diseases, from cancers and end‐stage renal disease to neurological‐psychiatric diseases (e.g., depression, dementia, and autism), respiratory, cardiac, and metabolic diseases. Additionally, its most used administration route is the inhalation of its essential oil (i.e., aromatherapy) alone or in combination by massage. Some limitations of the reviewed literature were discussed briefly. Overall, this critical review provides promising evidence of the lavender efficacy for sleep disorders in a wide variety of populations and diseases. However, further clinical studies with robust design and longer durations of intervention are necessary for more evidence‐based judgment on its effect on sleep problems and to investigate its mechanism of action.
Reliability assessment of a system with multi‐shock sources subject to dependent competing failure processes under phase‐type distribution
Authors: Lyu Hao , Qu Hongchen , Ma Li , Wang Shuai , Yang Zaiyou 
Published: April 2022

AbstractFor a system affected by multiple shock sources, the system usually experiences not only one failure process. This paper develops a reliability model for systems with multi‐shock sources subject to dependent competing failure processes (DCFPs). DCFPs consist of two failure modes: soft and hard failures. Multiple shock sources act on the system as follows: assuming there aremshock sources in total, thekth shock source works on the system at first until the system fails, and then the next shock source re‐acts on the system. Unlike the methods in other papers, the phase‐type distribution is used to build the hard failure reliability model in this paper. We consider the time lag of impacts and assume that the impact magnitudes do not exceed the hard failure threshold as an element in the transition matrix. At the same time, consider these two situations to establish a reliability model. In addition, we divide shock magnitudes into three areas: dead, nondeadly, and safe zones. An application example of a micro‐engine is studied to describe the availability of the developed reliability model. And we conduct the sensitivity analysis to exemplify the influence of the performance of the micro‐engine with parameter changing. With the proposed model, the reliability analysis is more efficient with multi‐shock sources subject to DCFPs