An updated reference genome sequence and annotation reveals gene losses and gains underlying naked mole-rat biology.

The naked mole-rat (NMR; ) is a eusocial subterranean rodent with a highly unusual set of physiological traits that has attracted great interest amongst the scientific community. However, the genetic basis of most of these traits has not been elucidated. To facilitate our understanding of the molecular mechanisms underlying NMR physiology and behaviour, we generated a long-read chromosomal-level genome assembly of the NMR.

Spinal Meningiomas.

Spinal meningiomas are relatively rare, but account for a significant proportion of primary spinal tumors in adults. These meningiomas can be found anywhere along the spinal column and their diagnosis is often delayed due to their slow growth and the lack of significant neurological symptoms until they reach a critical size, at which point signs of spinal cord or nerve root compression generally manifest and progress. If left untreated, spinal meningiomas can cause severe neurological deficits including rendering patients paraplegic or tetraplegic.

[Macrolides antibiotics and chronic pulmonary disease].

Macrolides are commonly used antibiotics due to their broad spectrum of activity and good bioavailability. More recently, they have been shown to be effective in certain chronic lung diseases by reducing exacerbation frequency. This narrative review examines the scientific evidence and international recommendation for immunomodulatory macrolides therapy in the most frequent chronic respiratory disorders.

Early stages of sympatric homoploid hybrid speciation in crater lake cichlid fishes.

Homoploid hybrid speciation (i.e., hybrid speciation without a change in ploidy) has traditionally been considered to be rare in animals.

Molecular parallelism in the evolution of a master sex-determining role for the anti-Mullerian hormone receptor 2 gene (amhr2) in Midas cichlids.

The evolution of sex chromosomes and their differentiation from autosomes is a major event during genome evolution that happened many times in several lineages. The repeated evolution and lability of sex-determination mechanisms in fishes makes this a well-suited system to test for general patterns in evolution. According to current theory, differentiation is triggered by the suppression of recombination following the evolution of a new master sex-determining gene.

An intronic transposon insertion associates with a trans-species color polymorphism in Midas cichlid fishes.

Polymorphisms have fascinated biologists for a long time, but their genetic underpinnings often remain elusive. Here, we aim to uncover the genetic basis of the gold/dark polymorphism that is eponymous of Midas cichlid fish (Amphilophus spp.) adaptive radiations in Nicaraguan crater lakes.

A Systematic Review of Definitions for Dysphagia and Dysphonia in Patients Treated Surgically for Degenerative Cervical Myelopathy.

Study Design: Systematic review. Surgical decompression for degenerative cervical myelopathy (DCM) is associated with perioperative complications, including difficulty or discomfort with swallowing (dysphagia) as well as changes in sound production (dysphonia). This systematic review aims to (1) outline how dysphagia and dysphonia are defined in the literature and (2) assess the quality of definitions using a novel 4-point rating system.

Inter-rater Reliability of the Modified Japanese Orthopedic Association Score in Degenerative Cervical Myelopathy: A Cross-sectional Study.

Study Design: Prospective cross-sectional blinded-assessor cohort study.

Objective: The aim of this study was to determine the inter-rater reliability of the modified Japanese Orthopaedic Association (mJOA) score in a large cohort of degenerative cervical myelopathy (DCM) patients.

Summary Of Background Data: The mJOA score is widely accepted as the primary outcome measure in DCM; it has been utilized in clinical practice guidelines and directly influences treatment recommendations, but its reliability has not been established.

The comparative genomic landscape of adaptive radiation in crater lake cichlid fishes.

Factors ranging from ecological opportunity to genome composition might explain why only some lineages form adaptive radiations. While being rare, particular systems can provide natural experiments within an identical ecological setting where species numbers and phenotypic divergence in two closely related lineages are notably different. We investigated one such natural experiment using two de novo assembled and 40 resequenced genomes and asked why two closely related Neotropical cichlid fish lineages, the Amphilophus citrinellus species complex (Midas cichlids; radiating) and Archocentrus centrarchus (Flyer cichlid; nonradiating), have resulted in such disparate evolutionary outcomes.

Contrasting signatures of genomic divergence during sympatric speciation.

The transition from 'well-marked varieties' of a single species into 'well-defined species'-especially in the absence of geographic barriers to gene flow (sympatric speciation)-has puzzled evolutionary biologists ever since Darwin. Gene flow counteracts the buildup of genome-wide differentiation, which is a hallmark of speciation and increases the likelihood of the evolution of irreversible reproductive barriers (incompatibilities) that complete the speciation process. Theory predicts that the genetic architecture of divergently selected traits can influence whether sympatric speciation occurs, but empirical tests of this theory are scant because comprehensive data are difficult to collect and synthesize across species, owing to their unique biologies and evolutionary histories.

Different Sources of Allelic Variation Drove Repeated Color Pattern Divergence in Cichlid Fishes.

The adaptive radiations of East African cichlid fish in the Great Lakes Victoria, Malawi, and Tanganyika are well known for their diversity and repeatedly evolved phenotypes. Convergent evolution of melanic horizontal stripes has been linked to a single locus harboring the gene agouti-related peptide 2 (agrp2). However, where and when the causal variants underlying this trait evolved and how they drove phenotypic divergence remained unknown.

A Personalized Medicine Approach for the Management of Spinal Metastases with Cord Compression: Development of a Novel Clinical Prediction Model for Postoperative Survival and Quality of Life.

Surgery should be considered for patients with metastatic epidural spinal cord compression (MESCC) with a life expectancy of ≥3 months. Given the heterogeneity of the clinical presentation and outcomes, clinical prognostic models (CPMs) can assist in tailoring a personalized medicine approach to optimize surgical decision-making. We aimed to develop and internally validate the first CPM of health-related quality of life (HRQoL) and a novel CPM to predict the survival of patients with MESCC treated surgically.

Reconstructing the Evolutionary History of Chromosomal Races on Islands: A Genome-Wide Analysis of Natural House Mouse Populations.

Chromosomal evolution is widely considered to be an important driver of speciation, as karyotypic reorganization can bring about the establishment of reproductive barriers between incipient species. One textbook example for genetic mechanisms of speciation are large-scale chromosomal rearrangements such as Robertsonian (Rb) fusions, a common class of structural variants that can drastically change the recombination landscape by suppressing crossing-over and influence gene expression by altering regulatory networks. Here, we explore the population structure and demographic patterns of a well-known house mouse Rb system in the Aeolian archipelago in Southern Italy using genome-wide data.

Development and Implementation of Clinical Practice Guidelines: An Update and Synthesis of the Literature With a Focus in Application to Spinal Conditions.

Study Design: Review.

Objectives: The objectives of this review are to () summarize the role of clinical practice guidelines (CPGs), () outline the methodology involved in formulating CPGs, () provide an illustration of these principles using a CPG developed for degenerative cervical myelopathy, and () highlight the importance of knowledge translation.

Methods: A review of the literature was conducted to summarize current standards in CPG development and implementation.

Genomes reveal marked differences in the adaptive evolution between orangutan species.

Background: Integrating demography and adaptive evolution is pivotal to understanding the evolutionary history and conservation of great apes. However, little is known about the adaptive evolution of our closest relatives, in particular if and to what extent adaptions to environmental differences have occurred. Here, we used whole-genome sequencing data from critically endangered orangutans from North Sumatra (Pongo abelii) and Borneo (P.

Biased Inference of Selection Due to GC-Biased Gene Conversion and the Rate of Protein Evolution in Flycatchers When Accounting for It.

The rate of recombination impacts on rates of protein evolution for at least two reasons: it affects the efficacy of selection due to linkage and influences sequence evolution through the process of GC-biased gene conversion (gBGC). We studied how recombination, via gBGC, affects inferences of selection in gene sequences using comparative genomic and population genomic data from the collared flycatcher (Ficedula albicollis). We separately analyzed different mutation categories ("strong"-to-"weak," "weak-to-strong," and GC-conservative changes) and found that gBGC impacts on the distribution of fitness effects of new mutations, and leads to that the rate of adaptive evolution and the proportion of adaptive mutations among nonsynonymous substitutions are underestimated by 22-33%.

Predictive factors of survival in a surgical series of metastatic epidural spinal cord compression and complete external validation of 8 multivariate models of survival in a prospective North American multicenter study.

Background: This study was designed to identify preoperative predictors of survival in surgically treated patients with metastatic epidural spinal cord compression (MESCC), to examine how these predictors are related to 8 prognostic models, and to perform the first full external validation of these models in accordance with the Transparent Reporting of a Multivariable Prediction Model for Individual Prognosis or Diagnosis (TRIPOD) statement.

Methods: One hundred forty-two surgically treated patients with MESCC were enrolled in a prospective, multicenter North American cohort study and were followed for 12 months or until death. Cox regression was used.

Congenital Cervical Spine Stenosis in a Multicenter Global Cohort of Patients With Degenerative Cervical Myelopathy: An Ambispective Report Based on a Magnetic Resonance Imaging Diagnostic Criterion.

Background: Congenital spinal stenosis (CSS) of the cervical spine is a risk factor for acute spinal cord injury and development of degenerative cervical myelopathy (DCM).

Objective: To develop magnetic resonance imaging (MRI)-based criteria to diagnose preexisting CSS and evaluate differences between patients with and without CSS.

Methods: A secondary analysis of international prospectively collected data between 2005 and 2011 was conducted.

Management - spinal metastases.

Due to a worldwide increase of cancer incidence and a longer life expectancy of patients with metastatic cancer, a rise in the incidence of symptomatic vertebral metastases has been observed. Metastatic spinal disease is one of the most dreaded complications of cancer as it is not only associated with severe pain, but also with paralysis, sensory loss, sexual dysfunction, urinary and fecal incontinency when the neurologic elements are compressed. Rapid diagnosis and treatment have been shown to improve both the quality and length of remaining life.