Trousseau syndrome preceding the diagnosis of colon cancer.

Trousseau Syndrome (TS) is defined as the occurrence of thromboembolic events prior to or simultaneously with the diagnosis of visceral neoplasia. In cases of multiple thromboembolisms, considering the possibility of TS, a screening for neoplasms may be warranted. We present a case study of a 61-year-old female who presented a neurological deficit.

Prevalence and Diagnostic Journey of Friedreich's Ataxia in the State of São Paulo, Brazil.

Friedreich's Ataxia (FRDA) is the leading cause of ataxia worldwide, but data on epidemiology and diagnostic journey are scarce, particularly in Latin America. Herein we estimated the prevalence of FRDA in the most populous Brazilian state and characterized the diagnostic odyssey of the disease. We received anonymized data of patients with FRDA from advocacy groups and physicians.

Optic Disc and Retinal Architecture Changes in Patients with Spinocerebellar Ataxia Type 2.

Background: ATXN2 is the causative gene of spinocerebellar ataxia type 2 (SCA2) and has been implicated in glaucoma pathogenesis. Therefore, studying ocular changes in SCA2 could uncover clinically relevant changes.

Objective: The aim was to investigate optic disc and retinal architecture in SCA2.

Nigrostriatal dysfunction in RFC1-related disorder/CANVAS.

Introduction: Parkinsonism is now recognized as an additional feature in RFC1/CANVAS syndrome; however, no systematic evaluation of nigrostriatal dopaminergic function has been published so far.

Methods: This is an observational, single-center study, which analyzed 13 patients with molecular confirmation of RFC1/CANVAS. Disease severity was assessed with the SARA scale.

Frequency of GAA- Ataxia in a Large Cohort of Brazilian Patients With Unsolved Adult-Onset Cerebellar Ataxia.

Objectives: Intronic GAA repeat expansions have recently been found to be a common cause of hereditary ataxia (GAA- ataxia; SCA27B). The global epidemiology and regional prevalence of this newly reported disorder remain to be established. In this study, we investigated the frequency of GAA- ataxia in a large cohort of Brazilian patients with unsolved adult-onset ataxia.

Head-to-head comparison of [Ga]Ga-PSMA-11 and [F]FDG PET/CT in multiple myeloma.

Purpose: The aim of this study was to compare [F]FDG and [Ga]Ga-PSMA-11 PET/CT image findings in patients with multiple myeloma (MM).

Methods: Twenty consecutive patients with symptomatic biopsy-proven MM were submitted to whole body [F]FDG and [Ga]Ga-PSMA-11 PET/CT with a time interval of 1-8 days between procedures. All lesions were counted and had their maximum SUV (SUVmax) measured.

Advanced Glycation End Products and Bone Metabolism in Patients with Chronic Kidney Disease.

Advanced glycation end products (AGEs) accumulation may be involved in the progression of CKD-bone disorders. We sought to determine the relationship between AGEs measured in the blood, skin, and bone with histomorphometry parameters, bone protein, gene expression, and serum biomarkers of bone metabolism in patients with CKD stages 3 to 5D patients. Serum levels of AGEs were estimated by pentosidine, glycated hemoglobin (A1c), and N-carboxymethyl lysine (CML).

Intestinal pneumatosis as a manifestation of systemic sclerosis.

A 60-year-old female patient was admitted to the emergency room for a 7-day history of abdominal bloating, nausea, vomiting, constipation, and lack of flatus. She had been diagnosed with systemic sclerosis (SSc) 10 years ago and had been using methotrexate, sildenafil, and prednisone. She did not present any signs of instability, but physical examination showed malnourishment status and abdominal tenderness and distention.

Interferon-beta induces major histocompatibility complex of class I (MHC-I) expression and a proinflammatory phenotype in cultivated human astrocytes.

Major histocompatibility complex class I (MHC-I) has been implicated in several types of neuroplasticity phenomena. Interferon beta-1b (IFN-β) increases MHC-I expression by motoneurons after sciatic nerve crush in mice, improving axonal growth and functional recovery. Additionally, IFN-β induces glial hypertrophy associated with upregulation of glial fibrillary acidic protein (GFAP) and MHC-I in murine astrocytes in vitro.

Budd-Chiari syndrome in Behçet's disease.

A 36-year-old man was admitted to the emergency department due to a 30-day history of abdominal distention and epigastralgia. He had described a non-intentional 10kg weight loss, dry cough, and fever 6 months before his admission. He had a history of tobacco and cocaine abuse and reported recurrent oral and genital ulcers.

The transcriptome of rat hippocampal subfields.

The hippocampus comprises several neuronal populations such as CA1, CA2, CA3, and the dentate gyrus (DG), which present different neuronal origins, morphologies, and molecular mechanisms. Laser capture microdissection (LCM) allows selectively collecting samples from target regions and eliminating unwanted cells to obtain more specific results. LCM of hippocampus neuronal populations coupĺed with RNA-seq analysis has the potential to allow the exploration of the molecular machinery unique to each of these subfields.

RFC1-Related Disorder: In Vivo Evaluation of Spinal Cord Damage.

Background: RFC1-related disorder is a novel heredodegenerative condition with a broad phenotypic spectrum. Its neuropathological bases are not yet fully understood, particularly regarding the pattern, extent, and clinical relevance of spinal cord (SC) damage.

Objectives: The objectives were to determine the SC structural signature in RFC1-related disorder in vivo and to identify potential clinical correlates for these imaging abnormalities.

Impact of novel hemophilia therapies around the world.

Hemophilia A and B are hereditary bleeding disorders, characterized by factor VIII or IX deficiencies, respectively. For many decades, prophylaxis with coagulation factor concentrates (replacement therapy) was the standard-of-care approach in hemophilia. Since the 1950s, when prophylaxis started, factor concentrates have been improved with virus inactivation and molecule modification to extend its half-life.

Structural brain and spinal cord damage in symptomatic and pre-symptomatic VAPB-related ALS.

Introduction: The VAPB gene is associated with fALS (fALS 8). This disease presents a variable phenotype and no study sought to characterize its neuroanatomical abnormalities until now. This study aims to evaluate structural brain and spinal cord abnormalities in symptomatic and pre-symptomatic VAPB-related ALS.

Tract-Specific Spinal Cord Diffusion Tensor Imaging in Friedreich's Ataxia.

Background: Spinal cord (SC) damage is a hallmark in Friedreich's ataxia (FRDA). Neuroimaging has been able to capture some SC macroscopic changes, but no study has evaluated microstructural SC white matter (WM) damage in vivo.

Objectives: We designed a cross-sectional study to evaluate microstructural integrity in SC WM tracts of FRDA patients using diffusion tensor imaging (DTI) with an automated analysis pipeline.

High-frequency ultrasound as a scientific tool for skin imaging analysis.

Ultrasonic imaging is one of the most important diagnostic tools in clinical medicine due to its cost, availability and good correlation with pathological results. High-frequency ultrasound (HFUS) is a technique used in skin science that has been little explored, especially in comparison with other sites and imaging techniques. HFUS shows real-time images of the skin layers, appendages and skin lesions in vivo and can significantly contribute to advances in skin science.

COVID-19 and venous thromboembolism: part of a multisystem disease.

We read with great interest recent scientific letters addressing abdominal aspects of COVID-19. Martín-Falquina IC et al. reported the thrombotic nature of acute pancreatitis (AP) in a patient with COVID-19 and likewise, our patient with AP was previously anticoagulated.

Skin effect of facial cleansing combined with an electric sonic device.

Background: New technologies, such as sonic devices, have been developed to optimize the skin cleansing process and improve its efficiency. To evaluate the effectiveness of these cosmetic procedures, skin bioengineering is an objective method to assess the biophysical parameters of the skin.

Aims: This study aimed to assess the effect of facial cleansing on the physiological properties of the skin by comparing a cleansing process with cosmetic product applied manually to cleansing with cosmetic product associated with the use of an electric sonic device.

Multi-omics analysis suggests enhanced epileptogenesis in the Cornu Ammonis 3 of the pilocarpine model of mesial temporal lobe epilepsy.

Mesial temporal lobe epilepsy (MTLE) is a chronic neurological disorder characterized by the occurrence of seizures, and histopathological abnormalities in the mesial temporal lobe structures, mainly hippocampal sclerosis (HS). We used a multi-omics approach to determine the profile of transcript and protein expression in the dorsal and ventral hippocampal dentate gyrus (DG) and Cornu Ammonis 3 (CA3) in an animal model of MTLE induced by pilocarpine. We performed label-free proteomics and RNAseq from laser-microdissected tissue isolated from pilocarpine-induced Wistar rats.