Genetic Variants Influence the Severity of Oral Mucositis in Pediatric Osteosarcoma Patients.

Background: The variability in patients' risk of oral mucositis (OM) has been, in part, attributed to differences in host genomics. The aim better define the role of genomics as an OM risk by investigating the association between genetic variants and the presence and severity of OM in pediatric patients with osteosarcoma (OS) undergoing chemotherapy (CT).

Methods: A longitudinal observational retrospective study was conducted.

Comparison of photobiomodulation with cryotherapy in the immediate postpartum period of parturients with grade I, grade II lacerations and/or episiotomy in reducing perineal and vulvar and edema: A randomized clinical trial.

Introduction: Vaginal delivery has several benefits for the parturient; however, during labor, some injuries, such as lacerations and/or episiotomy, can occur. Perineal pain may occur in the puerperium and can be aggravated in cases of perineal injury during childbirth, potentially impacting the physical and emotional aspects of the parturient. For this reason, it is necessary to use techniques that can relieve pain and edema in the immediate postpartum period, directly influencing recovery.

Enteral Nutritional Therapy in Pediatric Autologous Transplantation: A Descriptive Cohort Study.

: Pediatric hematopoietic stem cell transplantation requires individualized nutritional therapy, and the use of early enteral nutrition is beneficial. This study aims to analyze the use of enteral nutrition therapy in pediatric patients undergoing autologous transplantation. : This is a descriptive cohort study conducted with data from electronic medical records of pediatric patients undergoing autologous transplantation from 2017 to 2022, using enteral nutrition.

Correlation between levels of perceived stress and depressive symptoms in the functional disability of patients with fibromyalgia.

Objective: The aim of this study was to evaluate the factors that are most correlated with the levels of functional disability in patients with fibromyalgia.

Methods: This is a cross-sectional descriptive study in which 42 patients diagnosed with fibromyalgia according to the criteria of the American College of Rheumatology reported their status using the following questionnaires: the Beck Depression Inventory, the Perceived Stress Scale 14, the Revised Fibromyalgia Impact Questionnaire, the Visual Analog Pain Scale, and the Health Assessment Questionnaire.

Results: Moderate to severe levels of depression (Beck Depression Inventory: 22.

Aspects of laboratory characteristics, analysis of alloimmunization, and searching for predictors related to survival in patients with Autoimmune Hemolytic Anemia.

Autoimmune hemolytic anemia (AIHA) is characterized by hemolysis caused by autoantibodies. However, many patients do not respond to therapies and may have an unfavorable outcome. It has been hypothesized that patients with AIHA and alloantibodies have a lower survival compared to patients with this disease and without alloimmunization.

Biallelic Variants in the Ectonucleotidase ENTPD1 Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities, and Spastic Paraplegia.

Objective: Human genomics established that pathogenic variation in diverse genes can underlie a single disorder. For example, hereditary spastic paraplegia is associated with >80 genes, with frequently only few affected individuals described for each gene. Herein, we characterize a large cohort of individuals with biallelic variation in ENTPD1, a gene previously linked to spastic paraplegia 64 (Mendelian Inheritance in Man # 615683).

Epidemiology of rare diseases in Brazil: protocol of the Brazilian Rare Diseases Network (RARAS-BRDN).

The Brazilian Policy of Comprehensive Care for People with Rare Diseases (BPCCPRD) was established by the Ministry of Health to reduce morbidity and mortality and improve the quality of life of people with rare diseases (RD). Several laboratory tests, most using molecular genetic technologies, have been incorporated by the Brazilian Public Health System, and 18 specialised centres have so far been established at university hospitals (UH) in the capitals of the Southern, Southeastern and Northeastern regions. However, whether the available human and technological resources in these services are appropriate and sufficient to achieve the goals of care established by the BPCCPRD is unknown.

Molecular basis of various forms of maple syrup urine disease in Chilean patients.

Background: Maple syrup urine disease (MSUD) is an autosomal recessive inherited metabolic disorder caused by the deficient activity of the branched-chain α-keto acid dehydrogenase (BCKD) enzymatic complex. BCKD is a mitochondrial complex encoded by four genes: BCKDHA, BCKDHB, DBT, and DLD. MSUD is predominantly caused by mutations in the BCKDHA, BCKDHB, and DBT genes which encode the E1α, E1β, and E2 subunits of the BCKD complex, respectively.

Mapping, Infrastructure, and Data Analysis for the Brazilian Network of Rare Diseases: Protocol for the RARASnet Observational Cohort Study.

Background: A rare disease is a medical condition with low prevalence in the general population, but these can collectively affect up to 10% of the population. Thus, rare diseases have a significant impact on the health care system, and health professionals must be familiar with their diagnosis, management, and treatment.

Objective: This paper aims to provide health indicators regarding the rare diseases in Brazil and to create a network of reference centers with health professionals from different regions of the country.

TrkB-Targeted Therapy for Mucoepidermoid Carcinoma.

The brain-derived neurotrophic factor (BDNF)/tyrosine receptor kinase B (TrkB) pathway was previously associated with key oncogenic outcomes in a number of adenocarcinomas. The aim of our study was to determine the role of this pathway in mucoepidermoid carcinoma (MEC). Three MEC cell lines (UM-HMC-2, H253 and H292) were exposed to Cisplatin, the TrkB inhibitor, ANA-12 and a combination of these drugs.

Oral mucositis in childhood cancer patients receiving high-dose methotrexate: Prevalence, relationship with other toxicities and methotrexate elimination.

Background: Oral mucositis (OM) is one of the main adverse effects of the chemotherapeutic agent methotrexate (MTX).

Aim: To evaluate the relationship of OM with MTX metabolism time and other toxicities in childhood, cancer patients receiving high-dose of methotrexate (HD-MTX).

Design: Seventy-seven childhood patients receiving HD-MTX for treatment of leukaemia, osteosarcoma or lymphoma were evaluated.

Activation of BDNF/TrkB/Akt pathway is associated with aggressiveness and unfavorable survival in oral squamous cell carcinoma.

Objectives: To evaluate the expression of brain-derived neurotrophic factor (BDNF), its tyrosine kinase receptor B (TrkB), and two downstream targets of this pathway, Akt and ribosomal protein S6 (RPS6), in normal oral mucosa (NOM), oral leukoplakia (OL), and oral squamous cell carcinoma (OSCC) and correlate this expression with OSCC patients' outcomes, cell senescence, and "stemness" profile.

Materials And Methods: Ten cases of NOM, 32 OL, and 72 primary OSCC were included. Immunohistochemical analysis for BDNF, TrkB, p-TrkB, p-Akt, and p-RPS6 was performed.

Lapatinib Inhibits Amphiregulin-induced BeWo Choriocarcinoma Cell Proliferation by Reducing ERK1/2 and AKT Signaling Pathways.

Background: Human choriocarcinoma is the most aggressive type of gestational trophoblastic neoplasia. The expression of epidermal growth factor receptor (EGFR) in choriocarcinomas is significantly higher than those of trophoblastic cells in healthy placentas. Lapatinib is a potent EGFR and human epidermal growth factor receptor 2 (HER2) inhibitor that inhibits cell proliferation and induces apoptosis in various human cancer cells.

Tropomyosin-Related Kinase Receptor and Neurotrophin Expression in Cutaneous Melanoma Is Associated with a Poor Prognosis and Decreased Survival.

Objective: Normally, activation of tropomyosin-related kinase (TRK) receptors by neurotrophins (NTs) stimulates intracellular pathways involved in cell survival and proliferation. Dysregulation of NT/TRK signaling may affect neoplasm prognosis. Data on NT and TRK expression in melanomas are limited, and it is unclear whether NT/TRK signaling pathways are involved in the origin and progression of this neoplasm.

Drug-Related Morbidity in Brazil: A Cost-of-Illness Model.

Objectives: To estimate the proportion of patients with drug-related morbidities (DRMs), DRM preventability, and the cost of illness of the DRMs in Brazil.

Methods: We used the decision-analytic model initially developed by Johnson and Bootman (Drug-related morbidity and mortality. A cost-of-illness model.

Alterations in the MicroRNA of the Blood of Autism Spectrum Disorder Patients: Effects on Epigenetic Regulation and Potential Biomarkers.

Autism spectrum disorder (ASD) refers to a group of heterogeneous brain-based neurodevelopmental disorders with different levels of symptom severity. Given the challenges, the clinical diagnosis of ASD is based on information gained from interviews with patients' parents. The heterogeneous pathogenesis of this disorder appears to be driven by genetic and environmental interactions, which also plays a vital role in predisposing individuals to ASD with different commitment levels.

Impact of vitamin D receptor and binding protein gene polymorphisms in clinical and laboratory data of HCV patients: Cross sectional study.

Potential relationship of vitamin D, vitamin D receptor (VDR), and vitamin D binding protein (DBP) have been suggested in the pathophysiology of hepatitis C virus (HCV) infection. The aim of this observational study is to determine vitamin D levels, and VDR and DBP genetic polymorphism according demographic and laboratory data in chronic HCV patients (CHC).A total of 148 CHC patients gave serum samples for testing 25-hydroxyvitamin D (25 (OH)D) level by immunochemiluminometric assay (<20 ng/mL defined as deficient) and donated blood samples to allelic discrimination analysis using TaqMan assays.

Evaluation of three-dimensional SonoAVC ultrasound for antral follicle count in infertile women: its agreement with conventional two-dimensional ultrasound and serum levels of anti-Müllerian hormone.

Background: Several studies have reported a correlation between antral follicle count by conventional 2D transvaginal sonography and serum anti-Müllerian hormone levels. However, few studies have investigated the effectiveness of 3D SonoAVC transvaginal ultrasound technology, particularly in infertile women. Therefore, this study aims to evaluate the usefulness of three-dimensional (3D) SonoAVC transvaginal ultrasound technology for antral follicle count and its correlation to conventional two-dimensional (2D) transvaginal ultrasound and serum levels of anti-Müllerian hormone in infertile women.

The female crack users: Higher rates of social vulnerability in Brazil.

Female crack users who sought treatment are a hard to find part of the population. We studied sociodemographic and behavioral characteristics of crack users undergoing treatment in psychosocial care centers for alcohol and other drugs in six Brazilian cities. We carried out a cross-sectional study of 816 crack users and collected data with the Addiction Severity Index.

Neuro-Behçet disease mimicking brain tumor: A case report.

Background: Behçet's disease (BD) is an inflammatory multisystem disease with unknown etiology, and consists of a TRIAD comprising recurrent oral ulcers, genital ulcers, and uveitis. In some cases, the disease affects the central nervous system, called Neuro-Behçet Disease (NBD). Few cases of NBD simulating a brain tumor have been previously reported.

Uncovering the role of brain-derived neurotrophic factor/tyrosine kinase receptor B signaling in head and neck malignancies.

Brain-derived neurotrophic factor (BDNF) is a member of the neurotrophin family of growth factors that was first known as responsible for sustain the growth, function, and plasticity of neural cells. BDNF exerts its effects by binding to the tyrosine kinase receptor B (TrkB). The BDNF/TrkB axis has been reported to be overexpressed in several neurogenic and non-neurogenic tumors.