Correlation between neuroimaging, neurological phenotype, and functional outcomes in Wilson's disease.

Introduction: Wilson's disease (WD) is associated with a variety of movement disorders and progressive neurological dysfunction. The aim of this study was to correlate baseline brain magnetic resonance imaging (MRI) features with clinical phenotype and long-term outcomes in chronically treated WD patients.

Methods: Patients were retrospectively selected from an institutional database.

Processing of stalled replication forks in Bacillus subtilis.

Accurate DNA replication and transcription elongation are crucial for preventing the accumulation of unreplicated DNA and genomic instability. Cells have evolved multiple mechanisms to deal with impaired replication fork progression, challenged by both intrinsic and extrinsic impediments. The bacterium Bacillus subtilis, which adopts multiple forms of differentiation and development, serves as an excellent model system for studying the pathways required to cope with replication stress to preserve genomic stability.

Ultrasound in the Study of Thoracic Diseases: Innovative Aspects.

Thoracic ultrasound (TU) has rapidly gained popularity over the past 10 years. This is in part because ultrasound equipment is available in many settings, more training programmes are educating trainees in this technique, and ultrasound can be done rapidly without exposure to radiation. The aim of this review is to present the most interesting and innovative aspects of the use of TU in the study of thoracic diseases.

Trace Element Imbalances in Acquired Hepatocerebral Degeneration and Changes after Liver Transplant.

Brain manganese (Mn) accumulation is a key feature in patients with acquired hepatocerebral degeneration (AHD). The role of trace elements other than Mn in AHD needs to be clarified. In this study, using inductively coupled plasma mass spectrometry, we aimed to evaluate blood levels of trace elements in patients with AHD before and after liver transplantation (LT).

Brain MRI in the Decision for Liver Transplantation in Pediatric Neurological Wilson's Disease.

Background: Neurological Wilson's disease (WD) presentation in the pediatric population is rare, and liver transplantation (LT) in these patients remains controversial. The aim of the present study was to assess the role of brain magnetic resonance imaging (MRI) in predicting reversion of brain lesions and neurological outcomes in pediatric WD patients after LT.

Methods: Patients with confirmed WD (Leipzig score ≥4), disease onset in pediatric age (<18 years), neurological involvement, and submitted to LT were selected.

Brain imaging findings in Liberfarb syndrome: hypomyelination and optic nerve and cerebellar atrophy.

Liberfarb syndrome is an extremely rare mitochondrial multisystem disorder, recently described and characterized by early-onset retinal degeneration and sensorineural hearing loss, spondyloepimetaphyseal dysplasia, joint laxity, short stature, microcephaly, developmental delay and intellectual disability, but clinical variability has been observed. We report a case that presented to the hospital with a flare-up of the disease. We describe the brain magnetic resonance imaging findings, which are still not well characterized, to raise awareness of this diagnosis.

Atmospheric waves and global seismoacoustic observations of the January 2022 Hunga eruption, Tonga.

The 15 January 2022 climactic eruption of Hunga volcano, Tonga, produced an explosion in the atmosphere of a size that has not been documented in the modern geophysical record. The event generated a broad range of atmospheric waves observed globally by various ground-based and spaceborne instrumentation networks. Most prominent was the surface-guided Lamb wave (≲0.

The RecD2 helicase balances RecA activities.

DNA helicases of the RecD2 family are ubiquitous. Bacillus subtilis RecD2 in association with the single-stranded binding protein SsbA may contribute to replication fork progression, but its detailed action remains unknown. In this work, we explore the role of RecD2 during DNA replication and its interaction with the RecA recombinase.

A Hyaluronic Acid Demilune Scaffold and Polypyrrole-Coated Fibers Carrying Embedded Human Neural Precursor Cells and Curcumin for Surface Capping of Spinal Cord Injuries.

Tissue engineering, including cell transplantation and the application of biomaterials and bioactive molecules, represents a promising approach for regeneration following spinal cord injury (SCI). We designed a combinatorial tissue-engineered approach for the minimally invasive treatment of SCI-a hyaluronic acid (HA)-based scaffold containing polypyrrole-coated fibers (PPY) combined with the RAD16-I self-assembling peptide hydrogel (Corning PuraMatrix™ peptide hydrogel (PM)), human induced neural progenitor cells (iNPCs), and a nanoconjugated form of curcumin (CURC). In vitro cultures demonstrated that PM preserves iNPC viability and the addition of CURC reduces apoptosis and enhances the outgrowth of Nestin-positive neurites from iNPCs, compared to non-embedded iNPCs.

Recombination proteins differently control the acquisition of homeologous DNA during Bacillus subtilis natural chromosomal transformation.

Natural chromosomal transformation (CT) plays a major role in prokaryote evolution, yet factors that govern the integration of DNA from related species remain poorly understood. We show that in naturally competent Bacillus subtilis cells the acquisition of homeologous sequences is governed by sequence divergence (SD). Integration initiates in a minimal efficient processing segment via homology-directed CT, and its frequency decreases log-linearly with increased SD up to 15%.

Stability-indicating method for the novel antifungal compound RI76: Characterization and in vitro antifungal activity of its active degradation product.

RI76 is a novel 2-thiazolylhydrazone compound with reported antifungal activity. In preclinical drug development, it is fundamental to know the impurity profile and to understand degradation mechanisms of the molecule. In our study, RI76 was subjected to forced degradation conditions, and a stability-indicating HPLC-DAD method was developed and validated.

Impact of a Home Telehealth Program After a Hospitalized COPD Exacerbation: A Propensity Score Analysis.

Introduction: Currently there is lack of data regarding the impact of a home telehealth program on readmissions and mortality rate after a COPD exacerbation-related hospitalization.

Objective: To demonstrate if a tele-monitoring system after a COPD exacerbation admission could have a favorable effect in 1-year readmissions and mortality in a real-world setting.

Methods: This is an observational study where we compared an intervention group of COPD patients treated after hospitalization that conveyed a telehealth program with a followance period of 1 year with a control group of patients evaluated during one year before the intervention began.

Viral SPP1 DNA is infectious in naturally competent Bacillus subtilis cells: inter- and intramolecular recombination pathways.

A proteolyzed bacteriophage (phage) might release its DNA into the environment. Here, we define the recombination functions required to resurrect an infective lytic phage from inactive environmental viral DNA in naturally competent Bacillus subtilis cells. Using phage SPP1 DNA, a model that accounts for the obtained data is proposed (i) the DNA uptake apparatus takes up environmental SPP1 DNA, fragments it, and incorporates into the cytosol different linear single-stranded (ss) DNA molecules shorter than genome-length; (ii) the SsbA-DprA mediator loads RecA onto any fragmented linear SPP1 ssDNA, but negative modulators (RecX and RecU) promote a net RecA disassembly from these ssDNAs not homologous to the host genome; (iii) single strand annealing (SSA) proteins, DprA and RecO, anneal the SsbA- or SsbB-coated complementary strands, yielding tailed SPP1 duplex intermediates; (iv) RecA polymerized on these tailed intermediates invades a homologous region in another incomplete molecule, and in concert with RecD2 helicase, reconstitutes a complete linear phage genome with redundant regions at the ends of the molecule; and (v) DprA, RecO or viral G35P SSA, may catalyze the annealing of these terminally redundant regions, alone or with the help of an exonuclease, to produce a circular unit-length duplex viral genome ready to initiate replication.

Paromomycin is superior to metronidazole in Dientamoeba fragilis treatment.

Dientamoeba fragilis is a trichomonad parasite of the human intestine that is found worldwide. However, the biological cycle and transmission of this parasite have yet to be elucidated. Although its pathogenic capacity has been questioned, there is increasing evidence that clinical manifestations vary greatly.

Qualitative evaluation of an intervention to reduce energy poverty.

Objective: To evaluate the " Energía, la justa " program, aimed at reducing energy poverty in the city of Barcelona, from the point of view of the target population and the workers involved in the intervention.

Methods: A qualitative, descriptive and exploratory pilot study was carried out, with a phenomenological approach. Twelve semi-structured interviews were conducted: to three users, three energy agents who performed interventions in the homes, and six professionals who participated in the program coordination.

Gordon Holmes syndrome due to compound heterozygosity of two new variants - A diagnostic challenge.

Background: Gordon Holmes syndrome (GHS), characterized by cerebellar ataxia and hypogonadotropic hypogonadism (HH), has been related to recessive mutations in gene.

Aims Of The Study: Describe one Portuguese family with GHS due to compound heterozygosity of two new variants.

Methods: Report on the clinical presentation, diagnostic and genetic workup to reach GHS diagnosis.

Clinical spectrum of C9orf72 expansion in a cohort of Huntington's disease phenocopies.

The expansion in the C9orf72 gene has been recently reported as a genetic cause of Huntington's disease (HD) phenocopies. We aim to assess the frequency of the C9orf72 gene expansion in a Portuguese HD phenocopies cohort. Twenty HD phenotype-like patients without diagnosis were identified in our institutional database.

A 47-year-old man with tongue swelling.

Intermittent tongue angioedema can be the initial presentation of several disorders including angiotensin-converting-enzyme inhibitor induced angioedema and hereditary angioedema. Persistent angioedema on the other hand, can be associated with amyloidosis, tumors, thyroid disorders and acromegaly. We present a case of intermittent episodes of tongue swelling progressing to macroglossia.

Contrast induced acute kidney injury in endovascular surgery.

Introduction: Endovascular interventions are associated with renal impairment possibly due to intraoperative contrast use. The goal of this study was to determine the incidence, risk factors and pharmacological prevention strategies for contrast-induced acute kidney injury in patients undergoing vascular surgery. Another aim was finding a threshold dose of contrast as a predictor of contrast-induced acute kidney injury.

Enhancement of ACE and prolyl oligopeptidase inhibitory potency of protein hydrolysates from sardine and tuna by-products by simulated gastrointestinal digestion.

This work was focused on the study of the bioactive potential of three fish protein hydrolysates, one of them prepared from industrial sardine by-products (head and viscera) and the others from tuna by-products (head, and muscle and viscera). These protein hydrolysates exhibited moderate ability to inhibit Angiotensin Converting Enzyme or ACE (IC50 between 0.24-1.

Combined application of polyacrylate scaffold and lipoic acid treatment promotes neural tissue reparation after brain injury.

Primary Objective: The aim of this study was to investigate the reparative potential of a polymeric scaffold designed for brain tissue repair in combination with lipoic acid.

Research Design: Histological, cytological and structural analysis of a combined treatment after a brain cryo-injury model in rats.

Methods And Procedures: Adult Wistar rats were subjected to cryogenic brain injury.

[How to manage the anesthesia of a patient bearing a left heart assisting device?].

Left ventricular assist devices have revolutionized the treatment of end-stage cardiac failure. Only indicated as a bridge to transplant in the early beginning, technological evolution opened new horizons and nowadays these devices are also used as bridge for recovery or even as definitive therapy. With the increasing number of devices, a growing number of patients with left ventricular assistance is being presented for non-cardiac surgery.

[Reversible cerebral vasoconstriction syndrome: an important cause of stroke in the puerperium].

Reversible cerebral vasoconstriction syndrome is a rare cerebrovascular disorder characterized by cerebral arterial segmental vasoconstriction, usually spontaneously reversible. This disease can occur in the postpartum period, manifesting itself through acute neurologic symptoms, and the imaging studies play a fundamental role in its diagnosis. Although classically considered a benign and self-limiting disease, it may present less favorable courses with significant associated morbidity and mortality.