Willians syndrome

Toxoplasmosis is a parasitic disease caused by infection with the protozoan Toxoplasma gondii. In 2018, the first cases of people with clinical signs of acute febrile syndrome were reported, and in the same year, the largest outbreak of human toxoplasmosis ever described in the literature was reported. In this sense, the present work sought to describe the evolution of the outbreak cases in the municipality of Santa Maria, Rio Grande do Sul State, Brazil, as well as the studies conducted and published during and after the outbreak in the municipality (the period between 2018 and 2023)...

This study aimed to compare factors that influence perception of quality of life (QoL) in patients scheduled for orthognathic surgery. This was a cross-sectional study with 91 participants from two universities in Curitiba. The orthognathic quality of life questionnaire (OQLQ) was used to assess patients' perceptions of their QoL. Sociodemographic data were collected and facial profiles classified into classes I, II, and III. DNA was extracted from oral mucosal cells and markers rs3800373 and rs1360780 for FKBP prolyl isomerase 5 were genotyped...

Most of the original immunization regimens against severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) were composed of two doses, followed by a subsequent third booster dose to control the Omicron variant and hence coronavirus disease 2019 (COVID-19). However, most data generated regarding the fourth dose were not based on the general population. Therefore, this study aimed to verify the effect of the fourth COVID-19 vaccine dose in a diverse Brazilian population. This retrospective observational study was conducted between May and September 2022...

Alzheimer's disease is a progressive neurodegenerative disorder and the most common cause of dementia that principally affects older adults. Pathogenic factors, such as oxidative stress, an increase in acetylcholinesterase activity, mitochondrial dysfunction, genotoxicity, and neuroinflammation are present in this syndrome, which leads to neurodegeneration. Neurodegenerative pathologies such as Alzheimer's disease are considered late-onset diseases caused by the complex combination of genetic, epigenetic, and environmental factors...

BACKGROUND: Squamous cell carcinoma (SCC) of the sigmoid colon is an exceedingly rare subtype of colorectal cancer (CRC) associated with chronic inflammatory conditions. Due to its variable clinical presentation ranging from subclinical to fully symptomatic and limited available information, it poses a diagnostic challenge. We aim to provide a review of the current literature and raise awareness about the importance of a thorough clinical analysis for an early diagnosis...

Nonverbal communication (NVC) is a complex behavior that involves different modalities that are impaired in the schizophrenia spectrum, including gesticulation. However, there are few studies that evaluate it in individuals with at-risk mental states (ARMS) for psychosis, mostly in developed countries. Given our prior findings of reduced movement during speech seen in Brazilian individuals with ARMS, we now aim to determine if this can be accounted for by reduced gesticulation behavior. Fifty-six medication-naïve ARMS and 64 healthy controls were filmed during speech tasks...

OBJECTIVE: The aim of this study was to assess the susceptibility of HIV to two HIV monoclonal antibodies (bnAbs), 3BNC117 and 10-1074, in individuals with chronically suppressed HIV infection. DESIGN: The susceptibility of bnAbs was determined using the PhenoSense mAb Assay, which is a cell-based infectivity assay designed to assess the susceptibility of luciferase-reporter pseudovirions. This assay is the only CLIA/CAP compliant screening test specifically developed for evaluating bnAb susceptibility in people with HIV infection...

The Zika virus (ZIKV) is an arbovirus and belongs to the Flaviviridae family and Flavivirus genus, with dissemination in the Americas. In Brazil, the predominant strain is the Asian, promoting outbreaks that started in 2015 and are directly related to microcephaly in newborns and Guillain-Barré syndrome in adults. Recently, researchers identified a new African strain circulating in Brazil at the mid-end of 2018 and the beginning of 2019, with the potential to originate a new epidemic. To date, there is no approved vaccine or drug for the treatment of Zika syndrome, and the development of therapeutic alternatives to treat it is of relevance...

BACKGROUND: The emergence of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) variants has become a major concern contributing to increased morbidity and mortality worldwide. OBJECTIVES: Here we describe the replacement of the Gamma variant of concern (VOC) with Delta in the western Brazilian Amazon. METHODS: In this study, we analysed 540 SARS-CoV-2 positive samples determined by qualitative real-time RT-PCR selected in the state of Rondônia between June and December 2021...

BACKGROUND: Dopamine Responsive Dystonia (DRD) and Juvenile Parkinsonism (JP) are two diseases commonly presenting with parkinsonian symptoms in young patients. Current clinical guidelines offer a diagnostic approach based on molecular analysis. However, developing countries have limitations in terms of accessibility to these tests. We aimed to assess the utility of imaging equipment, usually more available worldwide, to help diagnose and improve patients' quality of life with these diseases...

Short QT syndrome (SQTS) represents a diagnosis challenge where the symptoms may vary from palpitations in an otherwise asymptomatic patient to sudden death. Is a recently discovered rare channelopathy, identified by Gussak in 2000, characterized by short QT intervals on the electrocardiogram and a tendency to develop atrial and ventricular arrhythmias in the absence of structural heart disease, hyperkalemia, hypercalcemia, hyperthermia, acidosis and endocrine disorders. We present the case of a 16-year-old patient with short QT-type channelopathy, who presented with sinus arrest and junctional rhythm, who later developed atrial tachycardia and atrial flutter...

Mycobacterium leprae , the etiologic agent of leprosy, is an acid-fast-staining and slow-growing bacilli that infect macrophages and Schwann cells individually or through forming globi. The clinical presentation of leprosy is broad and depends on the host immune response. We report a case of a 42-year-old Brazilian man presenting with fever of unknown origin (FUO), anemia, wasting syndrome, and neuropathy. The diagnosis of lepromatous leprosy was made after an extensive investigation revealed the presence of M...

Many swine farms employ UVC treatment in employees' personal belongings and small tools entering farms as part of the biosecurity protocol to decrease the risk of pathogen introduction into the operation. However, the UVC efficacy in some veterinary viruses is not fully evaluated. This study evaluated the efficacy of ultraviolet type C (UVC) radiation in inactivating seven relevant veterinary viruses: Swine Poxvirus (SwPV), Porcine Reproductive and Respiratory Syndrome Virus (PRRSV), Porcine Epidemic Diarrhea Virus (PEDV), Swine Influenza Virus (SIV), Bovine Viral Diarrhea Virus (BVDV), Porcine Parvovirus (PPV), and Senecavirus A (SVA)...

Zika virus (ZIKV) represents a global human health threat and it is related to severe diseases such as congenital Zika syndrome (CZS) and Guillain-Barré syndrome (GBS). There is no vaccine available nor specific antiviral treatment, so developing sensitive, specific, and low-cost diagnostic tests is necessary. Thus, the objective of this work was to produce the Zika virus envelope protein domain III (ZIKV-EDIII) in Komagataella phaffii KM71H and evaluate its potential for diagnostic applications. After the K...

Turner syndrome (TS) is a genetic disorder in females with X Chromosome monosomy associated with highly variable clinical features, including premature primary gonadal failure leading to ovarian dysfunction and infertility. The mechanism of development of primordial germ cells (PGCs) and their connection with ovarian failure in TS is poorly understood. An in vitro model of PGCs from TS would be beneficial for investigating genetic and epigenetic factors that influence germ cell specification. Here we investigated the potential of reprogramming peripheral mononuclear blood cells from TS women (PBMCs-TS) into iPSCs following in vitro differentiation in hPGCLCs...

The work in the production of animal protein in slaughterhouses involves the exposure to several occupational risk factors. At present, it has been recently associated with the pandemic context related to the biological agent severe acute respiratory syndrome coronavirus (SARS-CoV-2). The slaughterhouse sector has been shown to be a critical focus of concentration and spread of cases in Brazil and worldwide. Among the strategies adopted for worker's protection, there is a clear need for collective protection, supplemented by individual protection...

The development of the Artemis programme with the goal of returning to the moon is spurring technology advances that will eventually take humans to Mars and herald a new era of interplanetary space travel. However, long-term space travel poses unique challenges including exposure to ionising radiation from galactic cosmic rays and potential solar particle events, exposure to microgravity and specific nutritional challenges arising from earth independent exploration. Ionising radiation is one of the major obstacles facing future space travel as it can generate oxidative stress and directly damage cellular structures such as DNA, in turn causing genomic instability, telomere shortening, extracellular-matrix remodelling and persistent inflammation...

INTRODUCTION: Obesity is the most frequent reversible aggravating factor of obstructive sleep apnea syndrome, OSAS, with physical activity very important for its control. Continuous positive air pressure during sleep is the "gold standard" treatment for OSAS. OBJECTIVE: we aimed to investigate if the use of CPAP for a short period (7 days), would improve sleep quality, daytime sleepiness, and the disposition for physical activity. METHODS: Eighty OSAS patients were randomly assigned as follows: group I - CPAP with a steady pressure of 4 cm H2 O; group II - ideal therapeutic pressure...

In the United States, show pigs are raised to compete in agricultural events. These animals are usually raised in small herds with extensive human, domestic, and wild animal contact. Therefore, pathogen monitoring in this animal category is critical for improved disease surveillance and preparedness. This study characterized the virome of healthy show pigs using high-throughput sequencing using pooled serum samples from 2018 or 2019 (200 samples each pool). Results demonstrated the presence of DNA viral families (Parvoviridae, Circoviridae, and Herpesviridae) and RNA families (Arteriviridae, Flaviviridae, and Retroviridae)...

Stiff-person syndrome (SPS) is a rare and disabling central nervous system disorder with no satisfactory treatment. Muscle rigidity, sporadic muscle spasms, and chronic muscle pain characterize SPS. SPS is strongly correlated with autoimmune diseases, and it is usual to find high titers of antibodies against acid decarboxylase (GAD65). Due to its highly disabling nature and complicated treatment, we aim to create a treatment protocol through a narrative review of currently available treatments that show efficacy...