Tailoring refractive index dispersion in ionic liquids: The influence of charge delocalization in cations.

In this work, we study the contributions that different molecular blocks have in the wavelength-dependence of the refractive index in ionic liquids. The ionic liquids chosen for this work are combinations of the bis(trifluoromethylsulfonyl)imide anion with cations based on four different heterocycles with different extents of charge delocalization. The analysis is performed in terms of the experimental electronic polarizability, which is obtained by combining measurements of refractive index curves and densities via the Lorentz-Lorenz equation.

A novel mouse model for familial hypocalciuric hypercalcemia (FHH1) reveals PTH-dependent and independent CaSR defects.

The Calcium-sensing receptor (CaSR) senses extracellular calcium, regulates parathyroid hormone (PTH) secretion, and has additional functions in various organs related to systemic and local calcium and mineral homeostasis. Familial hypocalciuric hypercalcemia type I (FHH1) is caused by heterozygous loss-of-function mutations in the CaSR gene, and is characterized by the combination of hypercalcemia, hypocalciuria, normal to elevated PTH, and facultatively hypermagnesemia and mild bone mineralization defects. To date, only heterozygous Casr null mice have been available as model for FHH1.

Superficial Angiomyxoma in an Uncommon Area: A Case Report.

Superficial angiomyxomas, also known as cutaneous myxomas, are rare, benign soft tissue tumors that present as papulonodular or polypoid, asymptomatic, slow-growing lesions. They typically occur in the head, neck, trunk, and extremities of adults and may be isolated tumors or part of the Carney Complex. We present a case of SA with an uncommon area of presentation and a brief discussion of the importance of ruling out the presence of systemic syndromes such as the Carney Complex.

Acute irradiation induces a senescence-like chromatin structure in mammalian oocytes.

The mechanisms leading to changes in mesoscale chromatin organization during cellular aging are unknown. Here, we used transcriptional activator-like effectors, RNA-seq and superresolution analysis to determine the effects of genotoxic stress on oocyte chromatin structure. Major satellites are organized into tightly packed globular structures that coalesce into chromocenters and dynamically associate with the nucleolus.

Pericentric major satellite transcription is essential for meiotic chromosome stability and spindle pole organization.

In somatic cells, mitotic transcription of major satellite non-coding RNAs is tightly regulated and essential for heterochromatin formation and the maintenance of genome integrity. We recently demonstrated that major satellite transcripts are expressed, and chromatin-bound during mouse oocyte meiosis. Pericentric satellite RNAs are also expressed in human oocytes.

Pigmentary Demarcation Lines During Pregnancy With Erythema.

Pigmentary demarcation lines (PDL), or Voigt-Futcher lines, are lines that mark an abrupt transition between hyperpigmented skin and normal skin. PDLs are more common in Japanese and dark-skinned individuals. Eight types have been described (A-H); Type B is located on the posteromedial aspect of the lower extremities; it is more common in women and is the one most frequently associated with pregnancy.

Concomitant Subtypes of Granuloma Annulare in a 66-Year-Old Female: A Case Report.

Granuloma annulare (GA) is a benign, self-limited inflammatory skin condition with an unknown etiology. Although it usually presents with characteristic clinical features, a biopsy may be necessary in atypical cases to differentiate it from other granulomatous diseases. We describe a case of a 66-year-old female with two concomitant subtypes of GA, presenting with distinct clinical features but exhibiting similar histopathological findings.

A Tailored Approach to Leishmaniases Vaccination: Comparative Evaluation of the Efficacy and Cross-Protection Capacity of DNA vs. Peptide-Based Vaccines in a Murine Model.

Zoonotic leishmaniases are a worldwide public health problem for which the development of effective vaccines remains a challenge. A vaccine against leishmaniases must be safe and affordable and should induce cross-protection against the different disease-causing species. In this context, the DNA vaccine pHisAK70 has been demonstrated to induce, in a murine model, a resistant phenotype against , and .

Blocking FGF23 signaling improves the growth plate of mice with X-linked hypophosphatemia.

Fibroblast growth factor 23 (FGF23) is a phosphaturic hormone. X-linked hypophosphatemia (XLH) is the most prevalent inherited phosphate wasting disorder due to mutations in the PHEX gene, which cause elevated circulating FGF23 levels. Clinically, it is characterized by growth impairment and defective mineralization of bones and teeth.

A New Chromosome-Assigned Mongolian Gerbil Genome Allows Characterization of Complete Centromeres and a Fully Heterochromatic Chromosome.

Chromosome-scale genome assemblies based on ultralong-read sequencing technologies are able to illuminate previously intractable aspects of genome biology such as fine-scale centromere structure and large-scale variation in genome features such as heterochromatin, GC content, recombination rate, and gene content. We present here a new chromosome-scale genome of the Mongolian gerbil (Meriones unguiculatus), which includes the complete sequence of all centromeres. Gerbils are thus the one of the first vertebrates to have their centromeres completely sequenced.

Divergent patterns of meiotic double strand breaks and synapsis initiation dynamics suggest an evolutionary shift in the meiosis program between American and Australian marsupials.

In eutherian mammals, hundreds of programmed DNA double-strand breaks (DSBs) are generated at the onset of meiosis. The DNA damage response is then triggered. Although the dynamics of this response is well studied in eutherian mammals, recent findings have revealed different patterns of DNA damage signaling and repair in marsupial mammals.

Exploring genotype-phenotype correlations in glutaric aciduria type 1.

Glutaric aciduria type 1 (GA1) is a rare neurometabolic disease caused by pathogenic variants in the gene encoding the enzyme glutaryl-CoA dehydrogenase (GCDH). We performed an extensive literature search to collect data on GA1 patients, together with unpublished cases, to provide an up-to-date genetic landscape of GCDH pathogenic variants and to investigate potential genotype-phenotype correlation, as this is still poorly understood. From this search, 421 different GCDH pathogenic variants have been identified, including four novel variants; c.

Genomic Signature in Evolutionary Biology: A Review.

Organisms are unique physical entities in which information is stored and continuously processed. The digital nature of DNA sequences enables the construction of a dynamic information reservoir. However, the distinction between the hardware and software components in the information flow is crucial to identify the mechanisms generating specific genomic signatures.

The Sequence of Steps: A Key Concept Missing in Surgical Training-A Systematic Review and Recommendations to Include It.

Background: Surgical procedures have an inherent feature, which is the sequence of steps. Moreover, studies have shown variability in surgeons' performances, which is valuable to expose residents to different ways to perform a procedure. However, it is unclear how to include the sequence of steps in training programs.

ProDeM: A Process-Oriented Delphi Method for systematic asynchronous and consensual surgical process modelling.

Surgical process models support improving healthcare provision by facilitating communication and reasoning about processes in the medical domain. Modelling surgical processes is challenging as it requires integrating information that might be fragmented, scattered, and not process-oriented. These challenges can be faced by involving healthcare domain experts during process modelling.

Identification of Epigenetic Interactions between MicroRNA-30c-5p and DNA Methyltransferases in Neuropathic Pain.

Neuropathic pain is a prevalent and severe chronic syndrome, often refractory to treatment, whose development and maintenance may involve epigenetic mechanisms. We previously demonstrated a causal relationship between miR-30c-5p upregulation in nociception-related neural structures and neuropathic pain in rats subjected to sciatic nerve injury. Furthermore, a short course of an miR-30c-5p inhibitor administered into the cisterna magna exerts long-lasting antiallodynic effects via a TGF-β1-mediated mechanism.

Cross-cultural adaptation and validation of the Spanish version of the Anesthetists' Non-Technical Skills (ANTS) assessment tool.

Study Objective: Establish the transcultural validity of Anesthetists Non-Technical Skills (ANTS) in a Spanish-speaking country.

Design: Prospective cohort.

Setting: Clinical simulation center.

Bisphenol Exposure Disrupts Cytoskeletal Organization and Development of Pre-Implantation Embryos.

The endocrine disrupting activity of bisphenol compounds is well documented, but less is known regarding their impact on cell division and early embryo formation. Here, we tested the effects of acute in vitro exposure to bisphenol A (BPA) and its common substitute, bisphenol F (BPF), during critical stages of mouse pre-implantation embryo development, including the first mitotic division, cell polarization, as well as morula and blastocyst formation. Timing of initial cleavage was determined by live-cell imaging, while subsequent divisions, cytoskeletal organization and lineage marker labeling were assessed by high-resolution fluorescence microscopy.

New Cerebellar Ataxia, Neuropathy, Vestibular Areflexia Syndrome cases are caused by the presence of a nonsense variant in compound heterozygosity with the pathogenic repeat expansion in the RFC1 gene.

The biallelic pathogenic repeat (AAGGG) intronic expansion in the RFC1 gene has been recently described as the cause of cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS) and as a major cause of late-onset ataxia. Since then, many heterozygous carriers have been identified, with an estimated allele frequency of 0.7% to 4% in the healthy population.

Scheduling mobile dental clinics: A heuristic approach considering fairness among school districts.

Mobile dental clinics (MDCs) are suitable solutions for servicing people living in rural and urban areas that require dental healthcare. MDCs can provide dental care to the most vulnerable high-school students. However, scheduling MDCs to visit patients is critical to developing efficient dental programs.

Pets for pediatric transplant recipients: To have or not to have.

Pets have many health, emotional and social benefits for children, but the risk of zoonotic infections cannot be underestimated, especially for immunosuppressed patients. We report the recommendations given by health professionals working with pediatric transplant recipients to their families regarding pet ownership. An online survey addressing zoonosis knowledge and recommendations provided by health care practitioners regarding pets was distributed to clinicians treating pediatric transplant recipients.

Migration of highly-skilled workers: personal perspectives.

Recently, one of the authors and his family migrated from Nigeria to take up employment in the United States of America and the other from Spain to the United Kingdom. Both journeys have been ones of mixed feelings, as we have both reaped rewards, but have experienced significant hardships. The migration of skilled workers has been ongoing for centuries and seems set to continue.