SMAD4 Pathogenic Variants in Seven New Brazilian Individuals With Myhre Syndrome Including a New Family.

Myhre syndrome is a rare disorder caused by pathogenic gain-of-function variants in the SMAD4 gene. Most of the patients have had de novo variants. There are several instances of autosomal dominant inheritance, and penetrance appears to be complete.

Prevention of unplanned extubation in neonatal patients: Protocol for a systematic review and meta-analysis.

Unplanned extubation (UPE), defined as accidental removal of the endotracheal tube during mechanical ventilation or its replacement due to suspected obstruction or inadequate diameter, is considered the fourth most common adverse event in neonatal intensive care units (NICU). This study aimed to describe a systematic review and meta-analysis protocol that will identify and assess the effect of primary intervention measures designed to prevent UPE in NICU. A search will be carried out in the following databases: PubMed/Medline, EMBASE, Scopus, CINAHL, Cochrane Library, SciELO, and LILACS.

Effectiveness of the modified Seldinger technique for peripheral central catheter in newborns: a randomized clinical trial.

Objectives: to evaluate the effectiveness of peripheral central catheterization by comparing the modified Seldinger technique and the conventional technique in critically ill newborns.

Methods: randomized unmasked clinical trial conducted in a public children's hospital. Participation of 111 newborns with randomized allocation, 56 in the control group (conventional technique) and 55 in the experimental group (modified Seldinger).

Enhancing Antifungal Drug Discovery Through Co-Culture with Antarctic Strain CBMAI 1855.

Fungal infections pose a growing public health threat, creating an urgent clinical need for new antifungals. Natural products (NPs) from organisms in extreme environments are a promising source for novel drugs. CBMAI 1855 exhibited significant potential in this regard.

Negative pressure therapy in pediatric patient with surgical site infection: experience report.

Objective: To describe the use of negative pressure wound therapy and hydrofiber dressing with silver in a pediatric patient with a hard-to-heal surgical wound infection.

Method: This is a descriptive professional experience report on the use of conventional dressings and negative pressure wound therapy in a pediatric patient with a surgical wound infection. It was developed in 2023 at a Public Health Service that is a reference in the care of pediatric patients in the state of Paraná.

Exopolysaccharides as bio-based rheology modifiers from microalgae produced on dairy industry waste: Towards a circular bioeconomy approach.

The feasibility of exopolysaccharides (EPS) production from cheese whey using Chlorella vulgaris was investigated as an example of circular bioeconomy application. The effects of dairy waste utilization in EPS biosynthesis and rheological properties were evaluated, comparing with both control conditions and commercial xanthan gum (CXG). A twofold increase in yield, up to 0.

Evaluation of software technical quality for collecting data from patients under palliative care.

Objectives: to evaluate software technical quality for collecting data from patients under palliative care.

Methods: this is methodological technology evaluation research, according to the technical standard International Organization for Standardization/International Electrotechnical Commission 25040-2011, developed from August 2021 to August 2023. Eight nurses and eight information technology professionals participated as judges, who evaluated six quality characteristics and 23 subcharacteristics.

Multiple Aneuploidy: First Report of a Patient Presenting with a Karyotype 45,X/48,XXX,+21.

Introduction: The dual diagnosis of Down syndrome and Turner syndrome in the same patient was clinically identified in the early 1950s before the development of karyotyping techniques. After that, several authors reported anecdotal patients and/or reviewed series of Down-Turner double aneuploidies due to a regular 46,X,+21 constitution or different combinations of abnormal cell lines. In such cases, the most typical presentation encompasses the female sex, Down syndrome phenotype, and chromosomal mosaicism.

Insights into Colonization in Cystic Fibrosis and Cross-Transmission between Patients and Hospital Environments.

Background: Approximately 60% of individuals with cystic fibrosis (CF) are affected by infection. This condition is correlated with a decline in lung function and is identified as an independent risk factor contributing to hospital admissions among CF patients. This study investigates the dynamic interplay of within the context of CF patients, tracing its evolution over time, with a specific emphasis on colonization dynamics.

Kinetics characterization of a low immunogenic recombinant l-asparaginase from Phaseolus vulgaris with cytotoxic activity against leukemia cells.

l-asparaginases play a crucial role in the treatment of acute lymphoblastic leukemia (ALL), a type of cancer that mostly affects children and teenagers. However, it is common for these molecules to cause adverse reactions during treatment. These downsides ignite the search for novel asparaginases to mitigate these problems.

Challenging fungal infections in cystic fibrosis: a case of mixed Aspergillus species infection and antifungal combination testing.

stands as the predominant fungal genus in the airways of cystic fibrosis (CF) patients, significantly contributing to their morbidity and mortality. represents the primary causative species for infections, though the emergence of rare species within the section has become noteworthy. Among these, is particularly significant due to its frequent misidentification and intrinsic resistance to azole antifungal agents.

Physical Activity at Different Life Stages and Its Consequence on the Initial Immunization and Inflammatory Response Against COVID-19.

Background: To evaluate the influence of previous physical activity (PA) during childhood, adolescence, and current PA practice on the production of antibodies and inflammatory response between the first and second doses of the COVID-19 vaccine.

Methods: Fifty-nine men and 56 women were evaluated before the first vaccine, and 12 weeks later, blood samples were taken to quantify production of anti-severe acute respiratory syndrome coronavirus-2 immunoglobulin G antibodies and cytokines. Previous PA during childhood and adolescence was self-referred, and current PA was assessed using the International Physical Activity Questionnaire.

The protective effect of breastfeeding on febrile seizures: a systematic review with meta-analysis.

Several potential risk factors have been identified in the etiopathogenesis of febrile seizures (FS), including the type and extent of breastfeeding (BF). Given the lack of conclusive data, this study aims to systematically evaluate the evidence on the association between BF and FS. We conducted a systematic review and meta-analysis according to PRISMA guidelines.

Milteforan, a promising veterinary commercial product against feline sporotrichosis.

Sporotrichosis, the cutaneous mycosis most commonly reported in Latin America, is caused by the clinical clade species, including and . In Brazil, represents a vital health threat to humans and domestic animals due to its zoonotic transmission. Itraconazole, terbinafine, and amphotericin B are the most used antifungals for treating sporotrichosis.

Uncovering a Novel 51A Mutation and Antifungal Resistance in through Culture Collection Screening.

Background: is an important concern for immunocompromised individuals, often resulting in severe infections. With the emergence of resistance to azoles, which has been the therapeutic choice for infections, monitoring the resistance of these microorganisms becomes important, including the search for mutations in the 51A gene, which is the gene responsible for the mechanism of action of azoles. We conducted a retrospective analysis covering 478 isolates.

Resistance and Aerobic Training Were Effective in Activating Different Markers of the Browning Process in Obesity.

Lifestyle changes regarding diet composition and exercise training have been widely used as a non-pharmacological clinical strategy in the treatment of obesity, a complex and difficult-to-control disease. Taking the potential of exercise in the browning process and in increasing thermogenesis into account, the aim of this paper was to evaluate the effect of resistance, aerobic, and combination training on markers of browning of white adipose tissue from rats with obesity who were switched to a balanced diet with normal calorie intake. Different types of training groups promote a reduction in the adipose tissue and delta mass compared to the sedentary high-fat diet group (HS).

Digital technology for the prevention of healthcare-related infections in critical care.

Objective: To develop digital technology for patient and family integration into the Intensive Care Unit care team, aiming to subsidize decision-making for the prevention of infections related to healthcare.

Method: Methodological research of technological production in three phases: pre-production, production, and post-production in a teaching hospital in southern Brazil. Sixteen intensive care unit nurses participated.

Progress on Phage Display Technology: Tailoring Antibodies for Cancer Immunotherapy.

The search for innovative anti-cancer drugs remains a challenge. Over the past three decades, antibodies have emerged as an essential asset in successful cancer therapy. The major obstacle in developing anti-cancer antibodies is the need for non-immunogenic antibodies against human antigens.

Fugulin scale for classifying pediatric patients in a respiratory inpatient unit: experience report.

Objective: To describe the use of the Fugulin scale to classify pediatric patients hospitalized in a respiratory unit as a subsidy for the allocation of human resources given the increase in cases of Severe Acute Respiratory Syndrome.

Method: Experience report conducted in a children's hospital in the Metropolitan Region of Curitiba with data collection from medical records and approved by the Institution and by the Research Ethics Committee.

Results: Between February and May 2022, the percentage of patients categorized in minimal and intermediate care decreased by 53 and 11.