MFRP GENE MUTATION: NOVEL MANIFESTATION AND INSIGHTS ON PATHOPHYSIOLOGY - A CASE REPORT.

Purpose: The aim of this study is to delineate a novel manifestation linked to the mutation of the MFRP gene: a macular neovascular membrane (MNV). The authors provide detailed insights into this rare condition, shedding light on a previously unreported observation and proposing potential pathophysiological mechanisms.

Methods: A single case report from a tertiary center in Brazil was conducted for evaluation.

Spinal cord compression by cystic IgG4-related spinal pachymeningitis mimicking neurocysticercosis: a case report.

Background: To report a case of IgG4-related pachymeningitis presenting with cystic lesions mimicking neurocysticercosis.

Case Presentation: A 40-year-old female patient with tetraparesis, dysphagia and dysphonia was evaluated with clinical examination, magnetic resonance imaging, and meningeal biopsy. Magnetic resonance imaging (MRI) revealed diffuse pachymeningeal enhancement involving the cranial, cervical, thoracic, and lumbar segments with spinal cord compression and cystic lesions.

Effect of the Basilar Invagination (Type B) on Cervical Spine: A Case-control Study with MRI.

Objective: To evaluate the effect of the basilar invagination (BI) type B on cervical spine.

Methods: The research protocol used head magnetic resonance imaging (MRI) exams from 41 participants with BI type B and 158 controls. The criterion for BI was the distance of the odontoid apex to Chamberlain's line (DOCL) equal to or greater than 7 mm.

Primordial Odontogenic Tumor: A Review of the Literature and Report of Three New Patients.

The primordial odontogenic tumor (POT) is a rare mixed odontogenic tumor composed of mesenchymal cells, columnar odontogenic epithelium, and fibromyxoid stroma affecting the posterior mandible of children and adolescents. Herein, we report 3 patients with POT and the clinicopathological features of POT previously reported in the literature. A 12-year-old, 19-year-old, and 4-year-old patient presented an asymptomatic swelling in the posterior maxilla and posterior mandible.

Endoscopic self-expandable metal stent versus endoscopy vacuum therapy for traumatic esophageal perforations: a retrospective cohort study.

Background: Traumatic esophageal perforations (TEP) are a grave medical condition and require immediate intervention. Techniques such as Esophageal Self-Expandable Metal Stent (E-SEMS) and Endoscopic Vacuum Therapy (EVT) show promise in reducing tissue damage and controlling esophageal leakage. The present study aims to compare the application of EVT to E-SEMS placement in TEP.

Expansive Spinal Cord Injury After Autologous Olfactory Mucosal Transplantation: Case Report and Systematic Review.

Objective: To present strategies for managing tumor mass formation and their corresponding postoperative outcomes.

Methods: We conducted a systematic literature review following the guidelines and protocol of Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA). We searched the PubMed and EMBASE databases, screened titles and abstracts, and further evaluated full-text publications to select relevant studies.

Awake Craniotomy for Diffuse Low Grade Gliomas in a Resource Limited Setting: Lessons Learned with a Consecutive Series of 51 Surgeries.

Objective: Despite benefits of awake craniotomy (AC) many centers do not have access to it. We demonstrated the oncological and functional results of our initial experience in implementing AC in a context of resource limited setting.

Methods: This prospective, observational, and descriptive study collected the first 51 AC for diffuse low-grade glioma, classified according to the 2016 World Health Organization.

Analysis of etiological factors of nursing diagnosis of impaired comfort in children and adolescents with cancer.

Aim: To analyse the etiological factors of the nursing diagnosis of impaired comfort in children and adolescents with cancer.

Design: This cross-sectional study was carried out in the referral unit for the treatment of childhood cancer in a tertiary hospital located in northeastern Brazil.

Methods: A total of 200 children and adolescents who were undergoing cancer treatment were included in this study.

Unusual bifrontal cerebral infarction related to pituitary apoplexy. An uncommon presentation and literature review.

Background: Pituitary apoplexy (PA) is a syndromic condition described in 1950. The main symptoms are headache, visual impairment, ophthalmoplegia, and hypopituitarism. The relationship between stroke and PA is uncommon and two mechanisms are described: vascular compression and vasospasm.

Intramedullary spinal cord metastasis of clear cell renal carcinoma in a Von Hippel-Lindau patient.

Background: Intramedullary spinal cord metastasis is uncommon and represents only 0.6% of all spinal tumors. Renal cell carcinoma is even less frequent in this group than in lung and breast cancer.

Immunocompetent patient with isolated primary fourth ventricle lymphoma. Unusual diagnosis, their pitfalls, and challenges.

Background: Primary central nervous system lymphoma (PCNSL) is an uncommon lesion and represent 4% of all central nervous system (CNS) cancers. There have been few reports of localized isolated lymphoma developing in the fourth ventricle, with only 8 previous cases described. We present a case of an immunocompetent patient with isolated fourth ventricle lymphoma who did not have diffusion-weighted imaging (DWI) restriction.

Impact of COVID-19 on Neurosurgery in Brazil's Health System: The Reality of a Developing Country Affected by the Pandemic.

Background: The coronavirus disease identified in 2019 (COVID-19) pandemic changed neurosurgery protocols to provide ongoing care for patients while ensuring the safety of health care workers. In Brazil, the rapid spread of the disease led to new challenges in the health system. Neurooncology practice was one of the most affected by the pandemic due to restricted elective procedures and new triage protocols.

Frequency of Fabry disease in a juvenile idiopathic arthritis cohort.

Background: Fabry disease (FD) is a rare, X-linked, multisystemic lysosomal storage disorder (LSD) that results from a deficiency in the hydrolase alpha-galactosidase A (⍺-GalA). During childhood, classic FD symptomatology is rare. The majority of children may show non-specific symptoms, including in the musculoskeletal system.

IDH1-mutant primary intraventricular gliosarcoma: Case report and systematic review of a rare location and molecular profile.

Background: Gliosarcoma (GS) is classified as an IDH-wild-type variant of glioblastoma (GBM). While GS is already an unusual presentation of GBM, IDH1-mutant cases are especially rare. We present an IDH1-mutant primary intraventricular GS case report and a systematic review of the molecular profile in GS correlating to the prognostic and pathogenesis of IDH1/2 mutations.

The immunohistochemical expression of von Willebrand factor, T-cadherin, and Caveolin-1 is increased in kidney allograft biopsies with antibody-mediated injury.

Background: There are only a few reports evaluating the applicability of endothelial-damage markers analysis by immunohistochemistry (IHC) in kidney allograft samples. This study analyzed the expression of Caveolin-1 (Cav), von Willebrand factor (Vwf), and T-cadherin (Cad) in kidney biopsies and their association with antibody-mediated injury.

Methods: In this retrospective study, 114 cases with antibody-mediated changes (Banff, 2020) and 72 with interstitial fibrosis/tubular atrophy were selected.

Dominantly inherited Alzheimer's disease in Latin America: Genetic heterogeneity and clinical phenotypes.

Introduction: A growing number of dominantly inherited Alzheimer's disease (DIAD) cases have become known in Latin American (LatAm) in recent years. However, questions regarding mutation distribution and frequency by country remain open.

Methods: A literature review was completed aimed to provide estimates for DIAD pathogenic variants in the LatAm population.

Endorectal formalin instillation or argon plasma coagulation for hemorrhagic radiation proctopathy therapy: a prospective and randomized clinical trial.

Background And Aims: Radiotherapy may cause hemorrhagic radiation proctopathy (HRP). For conservative treatment of refractory HRP, argon plasma coagulation (APC) is the first-choice therapy. Endorectal formalin instillation (EFI), in turn, is an attractive treatment option because of its satisfactory results, great availability, and low cost.

Procurement Biopsies Can Predict Unfavorable Outcomes in Kidneys With Low MAPI Score Values.

Background: There are few reports about the usefulness of Maryland Aggregate Pathology Index (MAPI) score in procurement biopsies. This study aimed to evaluate the association between histopathological analysis according to MAPI and unfavorable outcomes in the first year after kidney transplantation (KT).

Methods: This retrospective study included deceased-donor KT patients whose grafts were biopsied before transplantation and had low MAPI scores (<8) in frozen sections (FSs).

Pure endoscopic transsphenoidal treatment of skull base ameloblastoma with intracranial extension: Case report and literature review.

Background: Ameloblastoma is a benign locally invasive lesion that represents 1% of all oral tumors. Epidemiological characteristics are variable in the literature. The most common origin sites are mandible and maxilla.

Pessary evaluation for genital prolapse treatment: From acceptance to successful fitting.

Aims: To determine the percentage of women with symptomatic pelvic organ prolapse who opted for pessary and had a successful pessary fitting trial; to identify the most commonly used size of pessary for stage of prolapse; and to identify risk factors associated with unsuccessful fitting.

Methods: We conducted a prospective cohort study of women with symptoms of genital prolapse referred to a public hospital tertiary care clinic (2013-2019). We used ring and ring with support pessaries for fittings.

Extent of resection in diffuse low-grade gliomas and the role of tumor molecular signature-a systematic review of the literature.

There is a lack of class I evidence concerning the impact of surgery in the treatment of diffuse low-grade glioma; the early maximal resection with preservation of eloquent brain areas has been accepted as the first therapeutic option. We performed a systematic review of the literature using the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines and protocol. Inclusion criteria: only case series with at least 100 patients containing supratentorial hemispheric diffuse low-grade glioma (according to any of the WHO classification used in papers published between 2000 to 2019), with pre- and postoperative MRI study were included in the qualitative and quantitative analyses.

Prevalence of sacroiliitis and acute and structural changes on MRI in patients with psoriatic arthritis.

Sacroiliac joint involvement is one of the earliest manifestations of psoriatic arthritis (PsA). Magnetic resonance imaging (MRI) is a useful tool in the early diagnosis of axial disease due to its sensitivity for detecting acute and chronic changes associated with sacroiliitis. In this study, we evaluated the prevalence of sacroiliitis, acute and structural image changes on MRI in PsA patients and identified predictive clinical, laboratory and disease activity factors.