bluuebunny/crossref_metadata_2025 huggingface dataset:
K2-99 revisited: a non-inflated warm Jupiter, and a temperate giant planet on a 522-d orbit around a subgiant
Authors: Smith A M S , Breton S N , Csizmadia Sz , Dai F , Gandolfi D , García R A , Howard A W , Isaacson H , Korth J , Lam K W F , Mathur S , Nowak G , Pérez Hernández F , Persson C M , Albrecht S H , Barragán O , Cabrera J , Cochran W D , Deeg H J , Fridlund M , Georgieva I Y , Goffo E , Guenther E W , Hatzes A P , Kabath P , Livingston J H , Luque R , Palle E , Redfield S , Rodler F , Serrano L M , Van Eylen V
Published: November 2021

We report new photometric and spectroscopic observations of the K2-99 planetary system. Asteroseismic analysis of the short-cadence light curve from K2’s Campaign 17 allows us to refine the stellar properties. We find K2-99 to be significantly smaller than previously thought, with R⋆ = 2.55 ± 0.02 R⊙. The new light curve also contains four transits of K2-99 b, which we use to improve our knowledge of the planetary properties. We find the planet to be a non-inflated warm Jupiter, with Rb = 1.06 ± 0.01 $\mathrm{R_{\rm Jup}}$. 60 new radial velocity measurements from HARPS, HARPS-N, and HIRES enable the determination of the orbital parameters of K2-99 c, which were previously poorly constrained. We find that this outer planet has a minimum mass Mcsin ic = 8.4 ± 0.2 $\mathrm{M_{\rm Jup}}$, and an eccentric orbit (ec = 0.210 ± 0.009) with a period of 522.2 ± 1.4 d. Upcoming TESS observations in 2022 have a good chance of detecting the transit of this planet, if the mutual inclination between the two planetary orbits is small.
The GALAH Survey: improving our understanding of confirmed and candidate planetary systems with large stellar surveys
Authors: Clark Jake T , Wright Duncan J , Wittenmyer Robert A , Horner Jonathan , Hinkel Natalie R , Clerté Mathieu , Carter Brad D , Buder Sven , Hayden Michael R , Bland-Hawthorn Joss , Casey Andrew R , De Silva Gayandhi M , D’Orazi Valentina , Freeman Ken C , Kos Janez , Lewis Geraint F , Lin Jane , Lind Karin , Martell Sarah L , Schlesinger Katharine J , Sharma Sanjib , Simpson Jeffrey D , Stello Dennis , Zucker Daniel B , Zwitter Tomaž , Munari Ulisse , Nordlander Thomas
Published: November 2021

Pioneering photometric, astrometric, and spectroscopic surveys is helping exoplanetary scientists better constrain the fundamental properties of stars within our galaxy and the planets these stars host. In this study, we use the third data release from the stellar spectroscopic GALAH Survey, coupled with astrometric data of eDR3 from the Gaia satellite, and other data from NASA’s Exoplanet Archive, to refine our understanding of 279 confirmed and candidate exoplanet host stars and their exoplanets. This homogenously analysed data set comprises 105 confirmed exoplanets, along with 146 K2 candidates, 95 TESS Objects of Interest (TOIs), and 52 Community TOIs (CTOIs). Our analysis significantly shifts several previously (unknown) planet parameters while decreasing the uncertainties for others. Our radius estimates suggest that 35 planet candidates are more likely brown dwarfs or stellar companions due to their new radius values. We are able to refine the radii and masses of WASP-47 e, K2-106 b, and CoRoT-7 b to their most precise values yet to less than 2.3 per cent and 8.5 per cent, respectively. We also use stellar rotational values from GALAH to show that most planet candidates will have mass measurements that will be tough to obtain with current ground-based spectrographs. With GALAH’s chemical abundances, we show through chemo-kinematics that there are five planet hosts that are associated with the galaxy’s thick disc, including NGTS-4, K2-183, and K2-337. Finally, we show that there is no statistical difference between the chemical properties of hot Neptune and hot rocky exoplanet hosts, with the possibility that short-period rocky worlds might be the remnant cores of hotter, gaseous worlds.
Planetary core formation via multispecies pebble accretion
Authors: Andama G , Ndugu N , Anguma S K , Jurua E
Published: November 2021

In the general classical picture of pebble-based core growth, planetary cores grow by accretion of single pebble species. The growing planet may reach the so-called pebble isolation mass, at which it induces a pressure bump that blocks inward drifting pebbles exterior to its orbit, thereby stalling core growth by pebble accretion. In recent hydrodynamic simulations, pebble filtration by the pressure bump depends on several parameters including core mass, disc structure, turbulent viscosity and pebble size. We have investigated how accretion of multiple, instead of single, pebble species affects core growth rates, and how the dependence of pebble isolation mass on turbulent viscosity and pebble size sets the final core masses. We performed numerical simulations in a viscous one-dimensional disc, where maximal grain sizes were regulated by grain growth, fragmentation and drift limits. We confirm that core growth rates and final core masses are sensitive to three key parameters: the threshold velocity at which pebbles fragment on collision, the turbulent viscosity and the distribution of pebble species, which yield a diversity of planetary cores. With accretion of multiple pebble species, planetary cores can grow very fast, reaching over 30–40 ME in mass. Potential cores of cold gas giants were able to form from embryos initially implanted as far as 50 au. Our results suggest that accretion of multispecies pebbles could explain: the estimated 25–45 ME heavy element abundance inside Jupiter’s core; the massive cores of extrasolar planets; the disc rings and gaps at wider orbits; and the early and rapid formation of planetary bodies.
gamma: a new method for modelling relativistic hydrodynamics and non-thermal emission on a moving mesh
Authors: Ayache Eliot H , van Eerten Hendrik J , Eardley Rupert W
Published: November 2021

In recent years, dynamical relativistic jet simulation techniques have progressed to a point where it is becoming possible to fully numerically resolve gamma-ray burst (GRB) blast-wave evolution across scales. However, the modelling of emission is currently lagging behind and limits our efforts to fully interpret the physics of GRBs. In this work we combine recent developments in moving-mesh relativistic dynamics with a local treatment of non-thermal emission in a new code: gamma. The code involves an arbitrary Lagrangian–Eulerian approach only in the dominant direction of fluid motion that avoids mesh entanglement and associated computational costs. Shock detection, particle injection, and local calculation of their evolution including radiative cooling are done at runtime. Even though gamma has been designed with GRB physics applications in mind, it is modular such that new solvers and geometries can be implemented easily with a wide range of potential applications. In this paper, we demonstrate the validity of our approach and compute accurate broad-band GRB afterglow radiation from early to late times. Our results show that the spectral cooling break shifts by a factor of ∼40 compared to existing methods. Its temporal behaviour also significantly changes from the previously calculated temporary steep increase after the jet break. Instead, we find that the cooling break does not shift with time between the relativistic and Newtonian asymptotes when computed from our local algorithm. gamma is publicly available at: https://github.com/eliotayache/gamma.
Neck Pain Clinical Prediction Rule to Prescribe Combined Aerobic and Neck-Specific Exercises: Secondary Analysis of a Randomized Controlled Trial
Authors: Daher Amir , Carel Rafael S , Dar Gali
Published: November 2021

Objective

A previous randomized controlled trial revealed that combined aerobic and neck-specific exercises yielded greater improvement than neck-specific exercises alone after a 6-month intervention in outpatients with nonspecific neck pain (NP). The aim of this secondary analysis was to identify subgroups of patients in the combined exercises group most likely to benefit from the intervention.

Methods

Sixty-nine patients were included. The original trial was conducted in multiple physical therapy outpatient clinics twice a week for 6 weeks; follow-up was 6 months after assignment. The primary outcome was the therapeutic success rate (Global Rating of Change Score ≥ +5, “quite a bit better”) after 6 weeks of training and at the 6-month follow-up. Candidate predictors from patients’ medical history and physical examination were selected for univariable regression analysis to determine their association with treatment response status. Multivariable logistic regression analysis was used to derive preliminary clinical prediction rules.

Results

The clinical prediction rule contained 3 predictor variables: (1) symptom duration ≤6 months, (2) neck flexor endurance ≥18 seconds, and (3) absence of referred pain (Nagelkerke R2 = .40 and −2 log likelihood = 60.30). The pre-test probability of success was 61.0% in the short term and 77.0% in the long term. The post-test probability of success for patients with at least 2 of the 3 predictor variables was 84.0% in the short term and 87.0% in the long term; such patients will likely benefit from this program.

Conclusion

A simple 3-item assessment, derived from easily obtainable baseline data, can identify patients with NP who may respond best to combined aerobic and neck-specific exercises. Validation is required before clinical recommendation.

Impact

Patients experiencing NP symptoms ≤6 months who have no referred pain and exhibit neck flexor endurance ≥18 seconds may benefit from a simple self-training program of combined aerobic and neck-specific exercises.
Divinity and Nihilism in W. B. Yeats’s A Vision
Authors: Balavage Elysia
Published: November 2021

This article analyses the place of nihilistic philosophy in W. B. Yeats’s notoriously opaque work A Vision. Despite often being cast as a failure, A Vision is considered fundamental to a comprehension of Yeats and his writings. While much work has been done to illuminate this obscure text, criticism has not yet adequately addressed a trio of integral philosophical influences on Yeats and their presence in A Vision. This article shows that Yeats employs the ‘old’ nihilistic attributes present in Baruch Spinoza’s substance monism, Immanuel Kant’s transcendental idealism and Georg Hegel’s Absolute Spirit to propose a foundational metaphysical system and reimagine the concept of ‘deity’. Yeats enthusiastically read each of these three philosophers, counting them amongst the most significant thinkers he studied. By interrogating the deific properties of the Thirteenth Cone, this article argues that old nihilism shapes Yeats’s system in A Vision and, more broadly, illustrates the poet’s understanding of generative nothingness, a concept that Spinoza, Kant and Hegel considered the underpinning of epistemological reality.
Key factors affecting the promotion of researchers of the Argentine Scientific and Technical Research Council (CONICET)
Authors: D'Onofrio María Guillermina , Rogers Juan D
Published: November 2021

The evaluation system is an important component of the institutional arrangements that may shape the career trajectories of researchers. Using logistic regression and recursive partition models, we analyze the resulting key individual level factors that seem to play an important role in the promotion of researchers through the research evaluation system of the Argentine National Council of Scientific and Technical Research (CONICET) in two selected fields, namely, the basic and applied sides of the molecular biology and biotechnology fields. The data are from 599 researchers who are members of the scientific and technological “research career” of the Council. We analyze the promotion through the first two stages of the process, namely, promotion from “assistant investigator” to “adjunct investigator” and from the latter to “independent investigator” for the entire cohort of candidates eligible during years 2013 and 2014. We find that time in grade (a strong normative requirement of the system), a moderate number of publications of international quality, evidence of mentoring the future generation of researchers, and registered technological production are the main factors that predict researchers’ promotion. Conversely, the specific academic profile, early external funding, gender, time from graduation, and postdocs abroad do not have a significant effect.
Cluster analysis in early axial spondyloarthritis predicts poor outcome in the presence of peripheral articular manifestations
Authors: Costantino Félicie , Aegerter Philippe , Schett Georg , De Craemer Ann-Sophie , Molto Anna , Van den Bosch Filip , Elewaut Dirk , Breban Maxime , D’Agostino Maria-Antonietta
Published: November 2021

Objectives

To assess whether two cluster analysis-based axial SpA (axSpA) endotypes (A for purely axial; B for both axial and peripheral) are stable over time and are associated with different long-term disease outcomes.

Methods

K-means cluster analysis was performed at each visit (until 5 years) on 584 patients from the DESIR cohort, who completed all planned visits, and validated in 232 consecutive axSpA patients from the BeGiant cohort. Cluster stability overtime was assessed by kappa statistics. A generalized linear mixed-effect analysis was applied to compare outcomes between clusters. Classification and regression tree (CART) analysis was performed to determine a decision rule able to assign a given patient to a definite cluster at onset.

Results

Both endotypes remained remarkably stable over time. In the DESIR cohort, patients in cluster B showed higher disease activity, worse functional outcome and higher need for anti-rheumatic drugs than patients in cluster A. CART analysis yielded three main clinical features (arthritis, enthesitis and dactylitis) that accurately determined cluster assignment. These results could be replicated in the Be-GIANT cohort.

Conclusion

Cluster-based axSpA endotypes were reproducible in two different cohorts, stable over time and associated with different long-term outcome. The axSpA endotype with additional peripheral disease manifestations is associated with more severe disease and requires more intensive drug therapy

Clinical trial registration

clinicaltrials.gov, https://clinicaltrials.gov, NCT01648907.
Bayesian Inference of Clonal Expansions in a Dated Phylogeny
Authors: Helekal David , Ledda Alice , Volz Erik , Wyllie David , Didelot Xavier
Published: November 2021

Microbial population genetics models often assume that all lineages are constrained by the same population size dynamics over time. However, many neutral and selective events can invalidate this assumption and can contribute to the clonal expansion of a specific lineage relative to the rest of the population. Such differential phylodynamic properties between lineages result in asymmetries and imbalances in phylogenetic trees that are sometimes described informally but which are difficult to analyze formally. To this end, we developed a model of how clonal expansions occur and affect the branching patterns of a phylogeny. We show how the parameters of this model can be inferred from a given dated phylogeny using Bayesian statistics, which allows us to assess the probability that one or more clonal expansion events occurred. For each putative clonal expansion event, we estimate its date of emergence and subsequent phylodynamic trajectory, including its long-term evolutionary potential which is important to determine how much effort should be placed on specific control measures. We demonstrate the applicability of our methodology on simulated and real data sets. Inference under our clonal expansion model can reveal important features in the evolution and epidemiology of infectious disease pathogens. [Clonal expansion; genomic epidemiology; microbial population genomics; phylodynamics.]
Anesthesia for interventional pulmonology
Authors: Semmelmann Axel , Loop Torsten
Published: November 2021

Purpose of review

Anesthesia for pulmonological interventions is a demanding challenge. This article discusses recent innovations and the implications for periinterventional anesthetic management.

Recent findings

Interventional pulmonology is a rapidly expanding specialty with very complex diagnostic and therapeutic approaches that include oncological staging, treatment of obstructive and restrictive lung diseases, recanalization of endobronchial obstructions, and retrieval of foreign bodies. With the development of advanced diagnostic and therapeutic interventions, the application is extended to critically ill patients. Current evidence focusing on the anesthetic techniques is presented here.

The development of new pulmonological methods requires a tailored anesthesiological approach. Their specific impact must be taken into account to ensure patient safety, goal-oriented outcome diagnostics and -quality, successful interventions, and patient comfort.
Peri-operative red blood cell transfusion in neonates and infants: NEonate and Children audiT of Anaesthesia pRactice IN Europe
Authors: Fuchs Alexander , Disma Nicola , Virág Katalin , Ulmer Francis , Habre Walid , de Graaff Jurgen C. , Riva Thomas
Published: November 2021

BACKGROUND

Little is known about current clinical practice concerning peri-operative red blood cell transfusion in neonates and small infants. Guidelines suggest transfusions based on haemoglobin thresholds ranging from 8.5 to 12 g dl−1, distinguishing between children from birth to day 7 (week 1), from day 8 to day 14 (week 2) or from day 15 (≥week 3) onwards.

OBJECTIVE

To observe peri-operative red blood cell transfusion practice according to guidelines in relation to patient outcome.

DESIGN

A multicentre observational study.

SETTING

The NEonate-Children sTudy of Anaesthesia pRactice IN Europe (NECTARINE) trial recruited patients up to 60 weeks’ postmenstrual age undergoing anaesthesia for surgical or diagnostic procedures from 165 centres in 31 European countries between March 2016 and January 2017.

PATIENTS

The data included 5609 patients undergoing 6542 procedures. Inclusion criteria was a peri-operative red blood cell transfusion.

MAIN OUTCOME MEASURES

The primary endpoint was the haemoglobin level triggering a transfusion for neonates in week 1, week 2 and week 3. Secondary endpoints were transfusion volumes, ‘delta haemoglobin’ (preprocedure – transfusion-triggering) and 30-day and 90-day morbidity and mortality.

RESULTS

Peri-operative red blood cell transfusions were recorded during 447 procedures (6.9%). The median haemoglobin levels triggering a transfusion were 9.6 [IQR 8.7 to 10.9] g dl−1 for neonates in week 1, 9.6 [7.7 to 10.4] g dl−1 in week 2 and 8.0 [7.3 to 9.0] g dl−1 in week 3. The median transfusion volume was 17.1 [11.1 to 26.4] ml kg−1 with a median delta haemoglobin of 1.8 [0.0 to 3.6] g dl−1. Thirty-day morbidity was 47.8% with an overall mortality of 11.3%.

CONCLUSIONS

Results indicate lower transfusion-triggering haemoglobin thresholds in clinical practice than suggested by current guidelines. The high morbidity and mortality of this NECTARINE sub-cohort calls for investigative action and evidence-based guidelines addressing peri-operative red blood cell transfusions strategies.

TRIAL REGISTRATION

ClinicalTrials.gov, identifier: NCT02350348
MsFLASH analysis of diurnal salivary cortisol and palpitations in peri- and postmenopausal women
Authors: Carpenter Janet S. , Tisdale James E. , Larson Joseph C. , Sheng Ying , Chen Chen X. , Von Ah Diane , Kovacs Richard , Reed Susan D. , Thurston Rebecca C. , Guthrie Katherine A.
Published: November 2021

Objective:

To evaluate the relationship between diurnal salivary cortisol patterns and distress from heart palpitations in midlife women.

Methods:

We analyzed baseline data from 293 women who were eligible for a 3 × 2 factorial trial of exercise or yoga versus routine activity, and omega-3 fish oil versus placebo for vasomotor symptoms. Women self-collected salivary cortisol using swabs at four time points over 2 consecutive days and reported distress from heart racing or pounding during the past 2 weeks using a single item. Sample description and covariate data included demographics, clinical data, vasomotor symptom frequency from daily diaries, medication use, and validated questionnaires on depression, stress, and insomnia (Patient Health Questionnaire-8, Perceived Stress Scale, and Insomnia Severity index). Data were analyzed using descriptive statistics, chi-square and t tests, and repeated measure linear regression models.

Results:

Participants were on average 54.6 (SD = 3.6) years old, most were White (67%) postmenopausal (84%), and 26% reported distress related to palpitations. In adjusted models, the morning (wake plus 30-min) geometric mean daily salivary cortisol concentrations were significantly more blunted in those with distress from palpitations compared with those without distress (P ≤ 0.03). When all covariates were controlled, distress from palpitations was the sole significant predictor of wake plus 30-minute cortisol (−0.25 [−0.45 to −0.04], P = 0.02).

Conclusions:

Palpitations among midlife women may be associated with blunted morning cortisol, and this relationship is not explained by demographics, clinical variables, vasomotor symptoms, medications, depression, stress, or insomnia.
Respiratory Syncytial Virus-attributable Deaths in a Major Pediatric Hospital in New South Wales, Australia, 1998–2018
Authors: Saravanos Gemma L. , Hsu Peter , Isaacs David , Macartney Kristine , Wood Nicholas J. , Britton Philip N.
Published: November 2021

Background:

Respiratory syncytial virus (RSV) is a leading cause of acute lower respiratory tract infection and an important contributor to child mortality. In this study, we estimated the frequency and described the clinical features of RSV-attributable deaths in Australian children.

Methods:

We conducted a retrospective observational study of RSV-associated deaths in hospitalized children <16 years of age over a 21-year period (1998–2018) in a pediatric tertiary/quaternary referral hospital in New South Wales (NSW), Australia. RSV-associated deaths were identified, reviewed, and classified according to RSV contribution to death. For ‘RSV-attributable’ deaths, we estimated frequency, case fatality ratio (CFR), and population death rate. We described demographic and clinical features of cases.

Results:

There were 20 RSV-attributable deaths. RSV was considered the primary cause of death for five cases and a contributory cause for 15 cases. The CFR among hospitalized cases was 0.2% (20/9779). The annual death rate was 0.6 per 10,000 hospitalized children. The population death rate was 1.2 (95% confidence interval 0.5–2.7) per million children <16 years of age in NSW. The median age at death was 28.7 months (interquartile range 8.8–75.0). All children had at least one medical comorbidity. Over half the deaths occurred in children ≥2 years of age (11, 55%). RSV healthcare-associated infection (RSV-HAI) was common (11, 55%).

Conclusions:

RSV-attributable death is infrequent in this setting. Deaths occurred exclusively in children with medical comorbidity and a high proportion were RSV-HAI. Children with medical comorbidity, including those ≥2 years of age, should be prioritized for targeted prevention of RSV disease.
Clinical and molecular characterization of Costello syndrome in unrelated Mexican patients
Authors: Ríos-González Blanca E. , Rodríguez-Ortiz Jessica F. , Castro-Martínez Anna G. , Magaña-Torres María T. , Barros-Núñez Patricio
Published: November 2021

This study intends to describe for the first time a cohort of Mexican patients with Costello syndrome. The five exons of the HRAS gene were amplified in DNA samples from 13 patients with a clinical suspicion of Costello syndrome. PCR products were sequenced using the Ready Reaction Big Dye Terminator v.3.0 Kit and an ABI PRISM 310 sequencer. Only five patients (38%) showed causal variant in codon 12 of the HRAS gene (four with the p.Gly12Ser and one with the p.Gly12Ala variant). Three patients showed silent polymorphic variants (p.His27His and p.Leu159Leu). Clinical features in patients carrying the causal variant were variable. The alternative diagnosis of cardio-facio-cutaneous syndrome was considered in patients who did not have a causative variant in HRAS.
Diabetic hypertriglyceridaemia and Alzheimer's disease: causal or not?
Authors: Takechi Ryusuke , Lam Virginie , Mamo John C.L.
Published: November 2021

Purpose of review

To summarize recent findings considering type II diabetes, or metabolic syndrome dyslipidaemia with risk for Alzheimer's disease.

Recent findings

Population, genetic, clinical and preclinical studies support the hypothesis of increased risk for Alzheimer's disease in type 2 diabetes mellitus. The mechanisms are unclear. However, recent studies suggest that aberrations in the peripheral metabolism of triglyceride-rich-lipoproteins compromise the brain microvasculature.

We review the literature of prediabetic metabolic syndrome and type 2 diabetes mellitus as a risk factor for Alzheimer's disease. We focus on a potential association with aberrations in the systemic metabolism of triglyceride-rich-lipoproteins reported over 18 months.
Are you sure that ankle is just sprained? A review of common ankle conditions, diagnoses and treatment
Authors: Chipman Danielle E. , Mackie Alexandra T. , Doyle Shevaun M.
Published: November 2021

Purpose of review

Acute ankle sprains frequently occur in active children and adolescents but may be the initial clinical presentation of other less common disorders affecting the lower extremities. There are many conditions that may cause one or multiple episodes of ankle injury that are misdiagnosed as an acute ankle sprain. This manuscript highlights diagnoses that should be considered when evaluating and managing a child or adolescent who presents initially and/or repeatedly with an acute ankle sprain.

Recent findings

In recent years, various studies have continued to note the prevalence of misdiagnosed ankle sprains, especially amongst the paediatric population. If ankle radiographs demonstrate no abnormalities during an initial clinical examination, often the patient is diagnosed with an acute ankle sprain. However, this can be a misdiagnosis, especially when the patient has had recurrent episodes of ankle injury and ancillary studies are not performed.

There are many diagnoses that can go unnoticed in the initial evaluation of a paediatric or adolescent ankle sprain. It is important for physicians to be aware of these other conditions to ensure proper treatment plans. This manuscript will analyse five conditions that may be misdiagnosed as an ankle sprain, including juvenile idiopathic arthritis, osteochondritis dissecans of the talus, hereditary sensory motor neuropathy (Charcot-Marie Tooth disease), tarsal coalition and transitional ankle fractures.
Perinatal Experiences of Asian American Women During COVID-19
Authors: Goyal Deepika , Han Meekyung , Feldman-Schwartz Talia , Le Huynh-Nhu
Published: November 2021

Purpose:

To explore the wellbeing, pregnancy, childbirth, and postpartum experiences of Asian American women who gave birth during the COVID-19 pandemic.

Study Design:

Qualitative exploratory design.

Methods:

Using convenience and snowball sampling, we recruited Asian American women who gave birth during the COVID-19 pandemic via social media. Participants completed sociodemographic and depressive symptom questionnaires and took part in a virtual semistructured interview where they were asked to describe their pregnancy, birth, and postpartum experiences in the midst of the COVID-19 pandemic. Qualitative content analysis methods were used to identify themes from participant narratives.

Results:

Thirty-eight Asian American women representing several racial ethnic subgroups (Asian Indian, Chinese, Filipino, Hmong, Laotian, Vietnamese) participated in our study. Participants were on average 34 (SD = 3.5) years of age; the majority were married and lived in California. At the time of data collection, participants were 3.7 (SD = 2.07) months postpartum and 5.3 to 10.5 months into the COVID-19 pandemic. Qualitative content analysis revealed two main themes: 1) unexpected perinatal journey, and 2) the emotional and psychological consequences of COVID-19.

Clinical Implications:

Our findings are not unique to Asian American women, but they offer insight for nurses taking care of all childbearing women. Nurses can provide individually tailored anticipatory guidance to help women navigate perinatal changes and manage expectations during future public health crises. Nurses can also encourage and help perinatal women identify ways to increase their own social support networks during the pregnancy and postpartum period.
“Sleeping Beauty Syndrome” and Psychosis as Precursory Symptoms of Multiple Sclerosis
Authors: Evagorou Olympia , Arvaniti Aikaterini , Angelopoulou Christina , Mavraki Eleni , Mikellides Georgios , Samakouri Maria
Published: November 2021

Frequently, patients with multiple sclerosis (MS) experience comorbid psychiatric symptoms. Mental disorders primarily occur simultaneously with or after an MS diagnosis; however, the probability of them being the initial manifestation of the disease is rare. We describe the case of a 22-year-old man who had previously been hospitalized because a single psychotic episode alongside symptoms of Kleine-Levin syndrome and a diagnosis of “acute and transient psychotic disorders.” Two years later, he was diagnosed with MS. A literature review of the possibility of a psychiatric episode overshadowing an MS diagnosis is then presented. Clinicians should always consider the possibility of an underlying organicity in a case of psychiatric presentation with atypical features, with special attention being given during the investigation process. This approach will lead to the early diagnosis of an organic disease, which can be treated accordingly and as early as possible.
Understanding Preoperative Breast Satisfaction among Patients Undergoing Mastectomy and Immediate Reconstruction: BREAST-Q Insights
Authors: Shamsunder Meghana G. , Polanco Thais O. , McCarthy Colleen M. , Allen Robert J. , Matros Evan , Coriddi Michelle , Mehrara Babak J. , Pusic Andrea , Nelson Jonas A.
Published: November 2021

Background:

This study aims to present normative values for satisfaction with breasts among preoperative breast reconstruction patients as assessed using the BREAST-Q instrument and to delineate factors associated with preoperative breast satisfaction.

Methods:

A retrospective analysis of prospectively collected data was performed examining women undergoing postmastectomy breast reconstruction at a tertiary care center who preoperatively completed the BREAST-Q from 2010 to 2017. Because breast satisfaction scores were nonnormally distributed, scores were categorized into quartiles for analysis. Patient- and treatment-level variables were tested in a multivariable ordinal logistic regression model as predictors of breast satisfaction. Preoperative satisfaction was also tested for association with choice of reconstructive modality.

Results:

Among 1306 postmastectomy reconstruction patients included in the study, mean preoperative Satisfaction with Breasts score was 61.8 ± 21.5 and the median score was 58.0 (interquartile range, 48 to 70). Factors associated with significantly lower preoperative satisfaction included history of psychiatric diagnosis, preoperative radiotherapy, marital status (married), and higher body mass index. Factors associated with significantly higher scores were malignancy (localized tumor), medium bra size (B to C cup), and self-identification as black. Preoperative breast satisfaction was lower among patients who elected autologous reconstruction than among those with implant reconstruction (p < 0.001).

Conclusions:

Preoperative breast satisfaction is influenced by multiple factors. Understanding these factors may improve preoperative counseling and expectation management for patients who undergo postmastectomy breast reconstruction.

CLINICAL QUESTION/LEVEL OF EVIDENCE:

Risk, III.
A Role for NRF2-Signaling in the Treatment and Prevention of Solar Lentigines
Authors: Kerns Michelle L. , Chien Anna L. , Kang Sewon
Published: November 2021

Background:

Photoaging is premature skin aging resulting from oxidative stress generated by exposure to solar radiation. A key clinical feature is solar lentigines, areas of hyperpigmentation on sun-exposed skin. Skin pigmentation is determined by cross-talk between keratinocytes and melanocytes, which is exquisitely sensitive to oxidative stress. Toll-like receptor (TLR) signaling and NF-E2-related factor 2 (NRF2) signaling, an endogenous antioxidant system, serve as a bridge between the oxidative stress response and immune regulation. Moreover, TLR-mediated induction of IL-6 production has been shown to prevent ultraviolet (UV)-induced hyperpigmentation.

Methods:

Shave biopsies of solar lentigines were obtained from 14 individuals. An additional 7 subjects applied broccoli sprout extract (BSE) containing sulforaphane daily or vehicle on photodamaged skin. Immunofluorescence staining was used to determine total and phosphorylated NRF2 in the lentiginous skin. Dermoscopy and Fontana & Masson staining were used to assess the effect of topical BSE on UV-induced pigmentation. Similar topical treatments were performed in a mouse model of UVB-induced hyperpigmentation utilizing WT, Nrf2–/–
, or K14-Cre-ERT2IL-6Rαfl/fl C57BL/6 mice.

Results:

NRF2 expression is altered in solar lentigines, and UV-induced skin pigmentation in humans could be ameliorated with topical BSE. Corresponding mouse models replicated the authors’ clinical findings and identified a potential mechanistic link to IL-6Rα signaling in keratinocytes.

Conclusion:

The authors’ findings suggest that dysregulation of NRF2 signaling is involved in the pathogenesis of UV-induced skin pigmentation and pharmacological activation of NRF2 may represent a potential therapeutic target in photoaging.
Pharmacotherapy of cerebellar and vestibular disorders
Authors: Lemos João , Manto Mario
Published: November 2021

Purpose of review

Major therapeutic advances have been made in patients with episodic and progressive cerebellar ataxias, downbeat nystagmus and some vestibular disorders. We provide an update review on this subject highlighting important research findings from the last two years.

Recent findings

Recently, the use of omaveloxolone for 2 years significantly improved upright stability in Friedreich's ataxia patients. In an open-label study, N-acetyl-l-leucine administered for 6-weeks significantly improved clinical impression of change, ataxia, and quality of life in patients with Niemann-Pick disease type C1. A 12-week treatment with dalfampridine was associated with improved standing balance in a subgroup of patients with multiple sclerosis. A gluten-free diet alone improved ataxia in half of patients with antiglutamic acid decarboxylase (GAD) ataxia, suggesting that gluten sensitivity might be part of the underlying pathogenesis in anti-GAD ataxia. In a head-to-head trial, both prolonged-release 4-aminopyridine (4-AP) and acetazolamide effectively reduced the attacks up to 60% in patients with episodic ataxia type 2 (EA2), albeit 4-AP had fewer adverse effects. Small observational studies have shown that patients with episodic vestibular syndrome who cannot be diagnosed as definite or probable vestibular migraine, might still improve vestibular symptoms following preventive treatment for migraine. The use of vitamin D supplementation in benign paroxysmal positional vertigo, steroids in acute unilateral vestibulopathy, and betahistine in Ménière's disease patients remains controversial.

Although the use of several therapies is being established in the treatment of cerebellar and vestibular disorders, there is an urgent need for prospective controlled therapeutic trials.
Hoyosella suaedae sp. nov., a novel bacterium isolated from rhizosphere soil of Suaeda aralocaspica (Bunge) Freitag & Schütze
Authors: Liu Dan-Feng , Chen Shao-Qi , Wang Hong-Fei , Xie Yuan-Guo , Gao Rui , Song Jie-Qiong , Gao Yan-Li , Xiao Min , Li Qiu-Li , Li Wen-Jun
Published: November 2021

A Gram-stain-positive, non-motile and coccus-shaped bacterium, designated strain LNNU 331112T, was isolated from the composite rhizosphere soil of the halophyteSuaeda aralocaspica(Bunge) Freitag and Schütze, which was collected in Xinjiang, north-west China. Growth occurred at 10–45 °C, pH 6.0–11.0 and in the presence of 0–10 % NaCl (w/v). Phylogenetic analysis based on the 16S rRNA gene sequence suggested that strain LNNU 331112Tbelonged to the genusHoyosellaand showed 95.6, 95.5 and 95.4 % sequence similarities toHoyosella altamirensisDSM 45258T,Hoyosella subflavaCGMCC 4.3532TandHoyosella rhizosphaeraeCGMCC 1.15478T, respectively. The estimated digital DNA–DNA hybridization relatedness values between strain LNNU 331112Tand the type strains ofH. altamirensisDSM 45258T,H. subflavaCGMCC 4.3532TandH. rhizosphaeraeCGMCC 1.15478Twere 18.9, 19.3 and 18.3 %, respectively. The average nucleotide identity values between strain LNNU 331112TandH. altamirensisDSM 45258T,H. subflavaCGMCC 4.3532TandH. rhizosphaeraeCGMCC 1.15478Twere 72.6, 72.7 and 72.3 %, respectively. The genome sequence of strain LNNU 331112Tshowed 69.0–72.3 % average amino acid identity values in comparison with the related genome sequences of three validly publishedHoyosellaspecies. The genome of strain LNNU 331112Twas 3.47 Mb, with a DNA G+C content of 68.4 mol%. A total of 3182 genes were identified as protein-coding in strain LNNU 331112T. Genomic analysis revealed that a number of genes involved in osmotic pressure regulation, intracellular pH homeostasis and potassium (K+) uptake protein were found in strain LNNU 331112T. The predominant menaquinones were MK-8 (44.6 %) and MK-7 (55.4 %), which differentiated strain LNNU 331112Tfrom other three recognizedHoyosellaspecies. Major fatty acids (>10 %) were C17 : 1 ω8c(33.8 %), C16 : 0(23.3 %), C17 : 0(12.8 %) and summed feature 3 (12.9 %), which also clearly separated strain LNNU 331112Tfrom three recognizedHoyosellaspecies. The polar lipid profile of strain LNNU 331112Tincluded diphosphatidylglycerol, phosphatidylethanolamine, phosphatidylglycerol, phosphatidylinositol, one unidentified glycolipid, one unidentified phospholipid and two unidentified lipids. According to the results of phenotypic, chemotaxonomic and phylogenetic analyses, strain LNNU 331112Tis considered to represent a novel species of the genusHoyosella, for which the nameHoyosella suaedaesp. nov. is proposed. The type strain is LNNU 331112T(=KCTC 39808T=CGMCC 1.17107T=DSM 103463T).
The relationship between ethnicity and stone composition in a large multi-ethnic London NHS Trust
Authors: Vaggers S , Warner R , Forster L , Ali Z , Pal P , Graham S
Published: November 2021

Purpose

Few studies have examined kidney stone composition of an ethnically diverse group living in the same location, we aimed to study this in an ethnically diverse NHS trust.

Methods

We reviewed all patients (n=312) with laboratory stone analysis and compared their ethnicity with their stone composition.

Results

Using a Chi Squared analysis there was no significant difference between stone composition in different ethnic groups (p=0.07). Uric acid stones were more common in the White-other group at 22.0% compared to 10.3% for White British, 5.2% for Asian and 9.52% for Black patients. Calcium oxalate stone were more common in the Asian population with 71.9% and Black population at 76.1%, compared with 56.7% in the White British population and 52.6% in the White-other population. Calcium phosphate stones were found commonly in the White British population (26.8%) compared to 18.6% for White-other, 16.7% for Asian and 9.5% for Black patients. Cystine and Struvite stones were found at low levels of between 0-3.4% in each group. Repeat stone formers with calcium oxalate, uric acid or cystine stones formed the same stone again 100.0% of the time. The odds for the Black population having a stone analysed (OR 0.62, CI 0.39-0.97, p=0.04) was significantly lower than the local population, and for the Asian population this was significantly higher (OR 1.31, CI1.05-1.62, p=0.01),

Conclusion

Uric acid stones are found more frequently in the White-other population and calcium oxalate stones are found more frequently in the Asian and black population. However, these results were not statistically significant. The odds ratio of having a stone was significantly higher in the Asian population and lower in the Black population.
Exploring the relationships between autozygosity, educational attainment, and cognitive ability in a contemporary, trans-ancestral American sample
Authors: Colbert Sarah MC , Keller Matthew C , Agrawal Arpana , Johnson Emma C
Published: November 2021

Previous studies have found significant associations between estimated autozygosity - the proportion of an individual’s genome contained in homozygous segments due to distant inbreeding - and multiple traits, including educational attainment (EA) and cognitive ability. In one study, estimated autozygosity showed a stronger association with parental EA than the subject’s own EA. This was likely driven by parental EA’s association with mobility: more educated parents tended to migrate further from their hometown, therefore choosing more genetically diverse partners. We examined the associations between estimated autozygosity, cognitive ability, and parental EA in a contemporary sub-sample of adolescents from the Adolescent Brain and Cognitive Development StudySM (ABCD Study®) (analytic N=6,504). We found a negative association between autozygosity and child cognitive ability consistent with previous studies, while the associations between autozygosity and parental EA were in the expected direction of effect (with greater levels of autozygosity being associated with lower EA) but the effect sizes were significantly weaker than those estimated in previous work. We also found a lower mean level of autozygosity in the ABCD sample compared to previous autozygosity studies, which may reflect overall decreasing levels of autozygosity over generations. Variation in migration and mobility patterns in the ABCD study compared to other studies may explain the pattern of associations between estimated autozygosity, EA, and cognitive ability in the current study.
Uncoupling differential water usage from drought resistance in a dwarf Arabidopsis mutant
Authors: Ginzburg Daniel N. , Bossi Flavia , Rhee Seung Y.
Published: November 2021

Understanding the molecular and physiological mechanisms of how plants respond to drought is paramount to breeding more drought resistant crops. Certain mutations or allelic variations result in plants with altered water-use requirements. To correctly identify genetic differences which confer a drought phenotype, plants with different genotypes must be subjected to equal levels of drought stress. Many reports of advantageous mutations conferring drought resistance do not control for soil water content variations across genotypes and may therefore need to be re-examined. Here, we reassessed the drought phenotype of the Arabidopsis thaliana dwarf mutant, chiquita1-1 (also called costl), by growing mutant seedlings together with the wild type to ensure uniform soil water availability across genotypes. Our results demonstrate that the dwarf phenotype conferred by loss of CHIQ1 function results in constitutively lower water usage, but not increased drought resistance.
Genomic insights into the recent population history of Mapuche Native Americans
Authors: Vicuña Lucas , Mikhailova Anastasia , Norambuena Tomás , Ilina Anna , Klimenkova Olga , Shchur Vladimir , Eyheramendy Susana
Published: November 2021

The last few years have witnessed an explosive generation of genomic data from ancient and modern Native American populations. These data shed light on key demographic shifts that occurred in geographically diverse territories of South America, such as the Andean highlands, Southern Patagonia and the Amazon basin. We used genomic data to study the recent population history of the Mapuche, who are the major Native population from the Southern Cone (Chile and Argentina). We found evidence of specific shared genetic ancestry between the Mapuche and ancient populations from Southern Patagonia, Central Chile and the Argentine Pampas. Despite previous evidence of cultural influence of Inca and Tiwanaku polities over the Mapuche, we did not find evidence of specific shared ancestry between them, nor with Amazonian groups. We estimated the effective population size dynamics of the Mapuche ancestral population during the last millennia, identifying a population bottle-neck around 1650 AD, coinciding with a period of Spaniards’ invasions into the territory inhabited by the Mapuche. Finally, we show that admixed Chileans underwent post-admixture adaptation in their Mapuche subancestry component in genes related with lipid metabolism, suggesting adaptation to scarce food availability.
The GA4GH Phenopacket schema: A computable representation of clinical data for precision medicine
Authors: Jacobsen Julius O. B. , Baudis Michael , Baynam Gareth S. , Beckmann Jacques S. , Beltran Sergi , Callahan Tiffany J. , Chute Christopher G. , Courtot Mélanie , Danis Daniel , Elemento Olivier , Freimuth Robert R. , Gargano Michael A. , Groza Tudor , Hamosh Ada , Harris Nomi L. , Kaliyaperumal Rajaram , Khalifa Aly , Krawitz Peter M. , Köhler Sebastian , Laraway Brian J. , Lehväslaiho Heikki , Lloyd Kent C. , Matalonga Leslie , McMurry Julie A. , Metke-Jimenez Alejandro , Mungall Christopher J. , Munoz-Torres Monica C. , Ogishima Soichi , Papakonstantinou Anastasios , Piscia Davide , Pontikos Nikolas , Queralt-Rosinach Núria , Roos Marco , Schofield Paul N. , Siapos Anastasios , Smedley Damian , Smith Lindsay D. , Steinhaus Robin , Sundaramurthi Jagadish Chandrabose , Swietlik Emilia M. , Thun Sylvia , Vasilevsky Nicole A. , Wagner Alex H. , Warner Jeremy L. , Weiland Claus , Haendel Melissa A. , Robinson Peter N.
Published: November 2021

Despite great strides in the development and wide acceptance of standards for exchanging structured information about genomic variants, there is no corresponding standard for exchanging phenotypic data, and this has impeded the sharing of phenotypic information for computational analysis. Here, we introduce the Global Alliance for Genomics and Health (GA4GH) Phenopacket schema, which supports exchange of computable longitudinal case-level phenotypic information for diagnosis and research of all types of disease including Mendelian and complex genetic diseases, cancer, and infectious diseases. To support translational research, diagnostics, and personalized healthcare, phenopackets are designed to be used across a comprehensive landscape of applications including biobanks, databases and registries, clinical information systems such as Electronic Health Records, genomic matchmaking, diagnostic laboratories, and computational tools. The Phenopacket schema is a freely available, community-driven standard that streamlines exchange and systematic use of phenotypic data and will facilitate sophisticated computational analysis of both clinical and genomic information to help improve our understanding of diseases and our ability to manage them.