bluuebunny/crossref_metadata_2025_split huggingface dataset:
A recurrent ZSWIM7 mutation causes male infertility resulting from decreased meiotic recombination
Authors: Li Yang , Wu Yufan , Zhou Jianteng , Zhang Huan , Zhang Yuanwei , Ma Hui , Jiang Xiaohua , Shi Qinghua 
Published: February 2021

Abstract

STUDY QUESTION
Are mutations in the zinc finger SWIM domain-containing protein 7 gene (ZSWIM7) associated with human male infertility?

SUMMARY ANSWER
The homozygous frameshift mutation (c.231_232del) in ZSWIM7 causes decreased meiotic recombination, spermatogenesis arrest, and infertility in men.

WHAT IS KNOWN ALREADY
ZSWIM7 is a SWIM domain-containing Shu2/SWS1 protein family member and a subunit of the Shu complex. Zswim7 knockout mice were infertile due to impaired meiotic recombination. However, so far there is no direct evidence that mutations of ZSWIM7 cause human infertility.

STUDY DESIGN, SIZE, DURATION
Screening for mutations of ZSWIM7 was performed using in-house whole-exome sequencing data from 60 men with non-obstructive azoospermia (NOA). Mice with a corresponding Zswim7 mutation were generated for functional verification.

PARTICIPANTS/MATERIALS, SETTING, METHODS
Sixty Chinese patients, who were from different regions of China, were enrolled. All the patients were diagnosed with NOA owing to spermatocyte maturation arrest based on histopathological analyses and/or immunostaining of spermatocyte chromosome spreads. ZSWIM7 mutations were screened from the whole-exome sequencing data of these patients, followed by functional verification in mice.

MAIN RESULTS AND THE ROLE OF CHANCE
A homozygous frameshift mutation (c.231_232del) in ZSWIM7 was found in two out of the 60 unrelated NOA patients. Both patients displayed small testicular size and spermatocyte maturation arrest in testis histology. Spermatocyte chromosome spreads of one patient revealed meiotic maturation arrest in a pachytene-like stage, with incomplete synapsis and decreased meiotic recombination. Male mice carrying a homozygous mutation similar to that of our patients were generated and also displayed reduced recombination, meiotic arrest and azoospermia, paralleling the spermatogenesis defects in our patients.

LIMITATIONS, REASONS FOR CAUTION
As Zswim7 is also essential for meiosis in female mice, future studies should evaluate the ZSWIM7 mutations more in depth and in larger cohorts of infertile patients, including males and females, to validate the findings.

WIDER IMPLICATIONS OF THE FINDINGS
These findings provide direct clinical and functional evidence that the recurrent ZSWIM7 mutation (c.231_232del) causes decreased meiotic recombination and leads to male infertility, illustrating the genotype-phenotype correlations of meiotic recombination defects in humans.

STUDY FUNDING/COMPETING INTEREST(S)
This work was supported by the National Natural Science Foundation of China (31890780, 31630050, 32061143006, 82071709, and 31871514), the Strategic Priority Research Program of the Chinese Academy of Sciences (XDB19000000), and the National Key Research and Developmental Program of China (2018YFC1003900 and 2019YFA0802600).

TRIAL REGISTRATION NUMBER
Not applicable.
Ischiofemoral impingement: the evolutionary cost of pelvic obstetric adaptation
Authors: Audenaert E A , Duquesne K , De Roeck J , Mutsvangwa T , Borotikar B , Khanduja V , Claes P 
Published: February 2021

Abstract
The risk for ischiofemoral impingement has been mainly related to a reduced ischiofemoral distance and morphological variance of the femur. From an evolutionary perspective, however, there are strong arguments that the condition may also be related to sexual dimorphism of the pelvis. We, therefore, investigated the impact of gender-specific differences in anatomy of the ischiofemoral space on the ischiofemoral clearance, during static and dynamic conditions. A random sampling Monte-Carlo experiment was performed to investigate ischiofemoral clearance during stance and gait in a large (n = 40 000) virtual study population, while using gender-specific kinematics. Subsequently, a validated gender-specific geometric morphometric analysis of the hip was performed and correlations between overall hip morphology (statistical shape analysis) and standard discrete measures (conventional metric approach) with the ischiofemoral distance were evaluated. The available ischiofemoral space is indeed highly sexually dimorphic and related primarily to differences in the pelvic anatomy. The mean ischiofemoral distance was 22.2 ± 4.3 mm in the females and 29.1 ± 4.1 mm in the males and this difference was statistically significant (P &lt; 0.001). Additionally, the ischiofemoral distance was observed to be a dynamic measure, and smallest during femoral extension, and this in turn explains the clinical sign of pain in extension during long stride walking. In conclusion, the presence of a reduced ischiofemroal distance and related risk to develop a clinical syndrome of ischiofemoral impingement is strongly dominated by evolutionary effects in sexual dimorphism of the pelvis. This should be considered when female patients present with posterior thigh/buttock pain, particularly if worsened by extension. Controlled laboratory study.
Phytochrome B links the environment to transcription
Authors: Hernando Carlos Esteban , Murcia Mauro Germán , Pereyra Matías Ezequiel , Sellaro Romina , Casal Jorge José 
Published: February 2021

AbstractPhytochrome B (phyB) senses the difference between darkness and light, the level of irradiance, the red/far-red ratio, and temperature. Thanks to these sensory capacities, phyB perceives whether plant organs are buried in the soil, exposed to full sunlight, in the presence of nearby vegetation, and/or under risk of heat stress. In some species, phyB perceives seasonal daylength cues. phyB affects the activity of several transcriptional regulators either by direct physical interaction or indirectly by physical interaction with proteins involved in the turnover of transcriptional regulators. Typically, interaction of a protein with phyB has either negative or positive effects on the interaction of the latter with a third party, this being another protein or DNA. Thus, phyB mediates the context-dependent modulation of the transcriptome underlying changes in plant morphology, physiology, and susceptibility to biotic and abiotic stress. phyB operates as a dynamic switch that improves carbon balance, prioritizing light interception and photosynthetic capacity in open places and the projection of the shoot towards light in the soil, under shade and in warm conditions.
The ATG4 protease integrates redox and stress signals to regulate autophagy
Authors: Pérez-Pérez María Esther , Lemaire Stéphane D , Crespo José L 
Published: February 2021

Abstract
Autophagy is a highly conserved degradative pathway that ensures cellular homeostasis through the removal of damaged or useless intracellular components including proteins, membranes, or even entire organelles. A main hallmark of autophagy is the biogenesis of autophagosomes, double-membrane vesicles that engulf and transport to the vacuole the material to be degraded and recycled. The formation of autophagosomes responds to integrated signals produced as a consequence of metabolic reactions or different types of stress and is mediated by the coordinated action of core autophagy-related (ATG) proteins. ATG4 is a key Cys-protease with a dual function in both ATG8 lipidation and free ATG8 recycling whose balance is crucial for proper biogenesis of the autophagosome. ATG4 is conserved in the green lineage, and its regulation by different post-translational modifications has been reported in the model systems Chlamydomonas reinhardtii and Arabidopsis. In this review, we discuss the major role of ATG4 in the integration of stress and redox signals that regulate autophagy in algae and plants.
Do ultracompact dwarf galaxies form monolithically or as merged star cluster complexes?
Authors: Mahani Hamidreza , Zonoozi Akram Hasani , Haghi Hosein , Jeřábková Tereza , Kroupa Pavel , Mieske Steffen 
Published: February 2021

ABSTRACT
Some ultracompact dwarf galaxies (UCDs) have elevated observed dynamical V-band mass-to-light (M/LV) ratios with respect to what is expected from their stellar populations assuming a canonical initial mass function (IMF). Observations have also revealed the presence of a compact dark object in the centres of several UCDs, having a mass of a few to 15 per cent of the present-day stellar mass of the UCD. This central mass concentration has typically been interpreted as a supermassive black hole, but can in principle also be a subcluster of stellar remnants. We explore the following two formation scenarios of UCDs: (i) monolithic collapse and (ii) mergers of star clusters in cluster complexes as are observed in massively starbursting regions. We explore the physical properties of the UCDs at different evolutionary stages assuming different initial stellar masses of the UCDs and the IMF being either universal or changing systematically with metallicity and density according to the integrated Galactic IMF theory. While the observed elevated M/LV ratios of the UCDs cannot be reproduced if the IMF is invariant and universal, the empirically derived IMF that varies systematically with density and metallicity shows agreement with the observations. Incorporating the UCD-mass-dependent retention fraction of dark remnants improves this agreement. In addition, we apply the results of N-body simulations to young UCDs and show that the same initial conditions describing the observed M/LV ratios reproduce the observed relation between the half-mass radii and the present-day masses of the UCDs. The findings thus suggest that the majority of UCDs that have elevated M/LV ratios could have formed monolithically with significant remnant-mass components that are centrally concentrated, while those with small M/LV values may be merged star cluster complexes.
Taxonomic Sampling and Rare Genomic Changes Overcome Long-Branch Attraction in the Phylogenetic Placement of Pseudoscorpions
Authors: Ontano Andrew Z , Gainett Guilherme , Aharon Shlomi , Ballesteros Jesús A , Benavides Ligia R , Corbett Kevin F , Gavish-Regev Efrat , Harvey Mark S , Monsma Scott , Santibáñez-López Carlos E , Setton Emily V W , Zehms Jakob T , Zeh Jeanne A , Zeh David W , Sharma Prashant P 
Published: February 2021

Abstract
Long-branch attraction is a systematic artifact that results in erroneous groupings of fast-evolving taxa. The combination of short, deep internodes in tandem with long-branch attraction artifacts has produced empirically intractable parts of the Tree of Life. One such group is the arthropod subphylum Chelicerata, whose backbone phylogeny has remained unstable despite improvements in phylogenetic methods and genome-scale data sets. Pseudoscorpion placement is particularly variable across data sets and analytical frameworks, with this group either clustering with other long-branch orders or with Arachnopulmonata (scorpions and tetrapulmonates). To surmount long-branch attraction, we investigated the effect of taxonomic sampling via sequential deletion of basally branching pseudoscorpion superfamilies, as well as varying gene occupancy thresholds in supermatrices. We show that concatenated supermatrices and coalescent-based summary species tree approaches support a sister group relationship of pseudoscorpions and scorpions, when more of the basally branching taxa are sampled. Matrix completeness had demonstrably less influence on tree topology. As an external arbiter of phylogenetic placement, we leveraged the recent discovery of an ancient genome duplication in the common ancestor of Arachnopulmonata as a litmus test for competing hypotheses of pseudoscorpion relationships. We generated a high-quality developmental transcriptome and the first genome for pseudoscorpions to assess the incidence of arachnopulmonate-specific duplications (e.g., homeobox genes and miRNAs). Our results support the inclusion of pseudoscorpions in Arachnopulmonata (new definition), as the sister group of scorpions. Panscorpiones (new name) is proposed for the clade uniting Scorpiones and Pseudoscorpiones.
Case Volume Analysis of Neurological Surgery Training Programs in the United States: 2017-2019
Authors: Hopkins Benjamin S , Shlobin Nathan A , Kesavabhotla Kartik , Smith Zachary A , Dahdaleh Nader S 
Published: February 2021

ABSTRACT

BACKGROUND
Neurological surgery resident applicants seek out certain aspects of training, including case volume. While graduating Accreditation Council for Graduate Medical Education (ACGME) summary data are available yearly, they are not program specific and drawing conclusions is difficult.

OBJECTIVE
To model general benchmarks for resident case volume across US programs to increase transparency and allow comparison of programs.

METHODS
ACGME neurosurgical resident national reports from 2017 to 2019 were downloaded. Averages, standard deviations, and medians were recorded from each of the 27 procedural categories. Monte Carlo simulations were performed. Each distribution was run independently 1 to 4 times to represent the number of residents in a given program per year. Cases were divided into different categories: endovascular, open vascular, tumor, spine, and pediatrics.

RESULTS
Average derived graduating case volumes were 1558 cases in 2017, 1599 cases in 2018, and 1618 cases in 2019. Programs with 3 residents per year averaged 4755 cases per year, with 90th percentile of 5401 cases per year. After removing endovascular cases, radiosurgery cases, and critical care procedures, the average was 3794 cases, with 90th percentile of 4197 cases per year. Categorically, the 90th percentile was 241 for open vascular, 373 for endovascular, 1600 for spine, 769 for tumor, and 352 for pediatrics.

CONCLUSION
Case volume is an important part of neurosurgical training and a major factor in determining applicant residency program ranking. Through Monte Carlo simulation, the average case volume for programs with 3 residents per year was determined. Metrics and benchmarking remain an important part of applicant and program growth.
Hiding in plain sight—Euplokamis dunlapae(Ctenophora) in Norwegian waters
Authors: Majaneva Sanna , Ringvold Halldis , Johansen Ellie , Østensen Mari-Ann , Hosia Aino 
Published: February 2021

AbstractCydippid ctenophores of genus Euplokamis have been rarely reported from the north-east Atlantic in the scientific literature. The conspicuous lack of previous records is likely attributable to methodological constraints detrimental to sampling ctenophores, including the use of plankton nets and preservation of samples as well as poor identification literature and a lack of taxonomic expertise on gelatinous zooplankton. Here, we have compiled published and novel records as well as documented diver observations, of Euplokamis spp. in Norwegian waters. Despite scant earlier reports, our data suggest that the genus Euplokamis is widely distributed and relatively common along the entire Norwegian coast, including Svalbard. Euplokamis was recorded from samples taken from several hundred meters depth to surface, from fjords as well as offshore. Most of the observations reported in this study are from the period between April and July, whereas specimens have been found nearly throughout the year. Specimens from Norwegian waters were morphologically most similar to Euplokamis dunlapae, and conservative 18S rDNA sequences of some specimens had a 100% match with an E. dunlapae specimen from Friday Harbor, USA, the type locality for the species. However, the morphological and molecular variation of Euplokamis demonstrates the need for systematic global sampling of multiple individuals of many ctenophore species.
Is fibromyalgia associated with a unique cytokine profile? A systematic review and meta-analysis
Authors: O’Mahony Luke Furtado , Srivastava Arnav , Mehta Puja , Ciurtin Coziana 
Published: February 2021

Abstract

Objectives
The aetiology of primary chronic pain syndromes (CPS) is highly disputed. We performed a systematic review and meta-analysis aiming to assess differences in circulating cytokine levels in patients with diffuse CPS (fibromyalgia) vs healthy controls (HC).

Methods
Human studies published in English from the PubMed, MEDLINE/Scopus and Cochrane databases were systematically searched from inception up to January 2020. We included full text cross-sectional or longitudinal studies with baseline cytokine measurements, reporting differences in circulating cytokine levels between fibromyalgia patients and HC. Random-effects meta-analysis models were used to report pooled effects and 95% CIs. This study is registered with PROSPERO (CRD42020193774).

Results
Our initial search yielded 324 papers and identified 29 studies (2458 participants) eligible for systematic review and 22 studies (1772 participants) suitable for meta-analysis. The systematic analysis revealed reproducible findings supporting different trends of cytokine levels when fibromyalgia patients were compared with HC, while the chemokine eotaxin, was consistently raised in fibromyalgia. Meta-analysis showed significantly increased TNF-α [standardized mean difference (SMD) = 0.36, 95% CI: 0.12, 0.60, P = 0.0034; I2 = 71%, Q2P = 0.0002], IL-6 (SMD = 0.15, 95% CI: 0.003, 0.29, P = 0.045; I2 = 39%, Q2P = 0.059), IL-8 (SMD = 0.26, 95% CI: 0.05, 0.47, P = 0.01; I2 = 61%, Q2P = 0.005) and IL-10 (SMD = 0.61, 95% CI: 0.34, 0.89, P &lt; 0.001; I2 = 10%, Q2P = 0.34) in fibromyalgia patients compared with HC.

Conclusion
We found evidence of significant differences in the peripheral blood cytokine profiles of fibromyalgia patients compared with HC. However, the distinctive profile associated with fibromyalgia includes both pro-inflammatory (TNF-α, IL-6, IL-8) and anti-inflammatory (IL-10) cytokines in pooled analysis, as well as chemokine (eotaxin) signatures. Further research is required to elucidate the role of cytokines in fibromyalgia.
Sleep EEG microstructure in children and adolescents with attention deficit hyperactivity disorder: a systematic review and meta-analysis
Authors: Biancardi Carlo , Sesso Gianluca , Masi Gabriele , Faraguna Ugo , Sicca Federico 
Published: February 2021

AbstractAttention deficit hyperactivity disorder (ADHD) is commonly associated with sleep problems, possibly due to shared pathophysiology. Microstructural sleep electroencephalographic (EEG) alterations may likely represent markers of disordered cortical maturation in ADHD, although literature data are still conflicting, deserving further assessment. After having systematically reviewed the literature, we included 11 studies from 598 abstracts, and assessed 23 parameters of cyclic alternating pattern (CAP), four parameters of sleep EEG power and one parameter of sleep graphoelements through 29 meta-analyses and, when possible, univariate meta-regressions. Slow wave activity (SWA) in ADHD was significantly higher in early childhood and lower in late childhood/adolescence compared to controls, with an inversion point at 10 years. Total CAP rate and CAP A1 index in non-rapid eye movement (NREM) stage 2 sleep, and CAP A1 rate in NREM sleep were significantly lower in ADHD patients than controls. SWA and CAP A1 changes are therefore possible markers of altered cortical maturation in ADHD, consistently with the neuropsychological deficits characterizing the disorder, likely fostering earlier detection of at-risk/milder conditions, and more tailored therapeutic interventions.
Maintaining continuity of nutrient intake after weaning. II. Review of post-weaning strategies
Authors: Wensley Madie R , Tokach Mike D , Woodworth Jason C , Goodband Robert D , Gebhardt Jordan T , DeRouchey Joel M , McKilligan Denny 
Published: February 2021

AbstractLow feed consumption during the first 3 d post-weaning disrupts nutrient intake and results in what is commonly known as a post-weaning growth check. While most pigs recover from this initial reduction in feed intake (FI), some pigs fail to successfully make this transition leading to morbidity and mortality. In this review, our objective is to describe the different post-weaning strategies that can be used to minimize nutrient intake disruption and improve FI in the immediate post-weaning period. Providing weanling pigs with an environment that encourages them to search out and consume feed is important. This includes appropriate barn temperatures, resource availability, and nursery placement strategies. Research is needed to better understand the ideal environmental temperatures to encourage pen exploration and reduce time to initial FI. Likewise, mat and gruel feeding are commonly practiced throughout the industry to increase feed accessibility; however, limited research data is available to validate protocols or benefits. Nursery placement strategies include sorting light weight pigs into uniform body weight groups and average or heavy weight pigs into variable body weight groups to provide benefit to light pigs while reducing initial aggression in heavy pigs. Furthermore, water enrichment with nutrient dense products have been shown to improve growth performance and reduce morbidity and mortality in the early post-weaning period. Because young pigs are sensitive to palatability, diet form and complexity should also be considered. Weanling pigs prefer diets manufactured with coarse ground corn (700 μm) compared to fine ground corn. Additionally, weanling pigs are more attracted to large diameter pellets (12 mm) compared with small pellets. Despite these preferences, impacts on growth are relatively small. Feeding complex diets with high levels of lactose, animal protein products, or other palatable ingredients is another strategy shown to improve growth performance during the first week post-weaning; however, the initial benefits quickly diminished as pigs become older. Other strategies that warrant further investigation include the effect of crumble diets on feed preference and the concept of perinatal or social interaction flavor learning. In summary, strategic post-weaning nutrition and management practices must focus on maintaining continuity of nutrient intake in order to reduce morbidity and mortality in the immediate post-weaning period.