Ataxia-telangiectasia in Latin America: clinical features, immunodeficiency, and mortality in a multicenter study.

Ataxia-telangiectasia (AT) is a rare genetic disorder leading to neurological defects, telangiectasias, and immunodeficiency. We aimed to study the clinical and immunological features of Latin American patients with AT and analyze factors associated with mortality. Referral centers from 9 Latin American countries participated in this retrospective cohort study, and 218 patients were included. Median (IQR) ages at symptom onset and diagnosis were 1.0 (1.0-2.0)  and 5.0 (3.0-8.0) years, respectively. Most patients presented recurrent airway infections, which was significantly associated with IgA deficiency. IgA deficiency was observed in 60.8% of patients and IgG deficiency in 28.6%. T- and B-lymphopenias were also present in most cases. Mean survival was 24.2 years, and Kaplan-Meier 20-year-survival rate was 52.6%, with higher mortality associated with female gender and low IgG levels. These findings suggest that immunologic status should be investigated in all patients with AT.

Treatment of Parkinson's disease by deep brain stimulation: a bibliometric analysis.

BACKGROUND: For more than 30 years, deep brain stimulation (DBS) has been a therapeutic tool for Parkinson's disease (PD) treatment. DBS can ameliorate several motor and non-motor symptoms and improve the patients' quality of life. OBJECTIVES: To analyze the global scientific production of original and review articles on Parkinson's disease treatment using deep brain stimulation. DESIGN AND SETTING: Descriptive, bibliometric study with a quantitative approach. METHOD: The research protocol was conducted in March 2023 using the Web of Science database. Six hundred eighty-four articles were included in the analysis. Data were imported into RStudio Desktop Software, linked to R Software. The Bibliometrix R package, its Biblioshiny web interface, and VOSviewer software were used for the analysis. RESULTS: The international production began in 1998. Movement Disorders is the journal with the largest number of published articles and the most cited. Michael Okun and Andres Lozano are the authors who produced the most in this area. The University of Florida is the most active affiliated institution in Brazil. The United States has the largest number of collaborations and is mainly published by local researchers. In contrast, countries such as the United Kingdom and Canada have a high number of multi-country publications. The 15 most cited studies predominantly investigated subthalamic nucleus stimulation. CONCLUSION: DBS for Parkinson's disease is a relatively novel therapeutic approach, with studies that have expanded over the last twenty-five years. Most scientific production was quantitative and restricted to specialized journals. The United States, Europe, and China held the most articles.

Molecular interactions of the Omicron, Kappa, and Delta SARS-CoV-2 spike proteins with quantum dots of graphene oxide.

CONTEXT: The Omicron, Kappa, and Delta variants are different strains of the SARS-CoV-2 virus. Graphene oxide quantum dots (GOQDs) represent a burgeoning class of oxygen-enriched, zero-dimensional materials characterized by their sub-20-nm dimensions. Exhibiting pronounced quantum confinement and edge effects, GOQDs manifest exceptional physical-chemical attributes. This study delves into the potential of graphene oxide quantum dots, elucidating their inherent properties pertinent to the surface structures of SARS-CoV-2, employing an integrated computational approach for the repositioning of inhibitory agents. METHODS: Following rigorous adjustment tests, a spectrum of divergent bonding conformations emerged, with particular emphasis placed on identifying the conformation exhibiting optimal adjustment scores and interactions. The investigation employed molecular docking simulations integrating affinity energy evaluations, electrostatic potential clouds, molecular dynamics encompassing average square root calculations, and the computation of Gibbs-free energy. These values quantify the strength of interaction between GOQDs and SARS-CoV-2 spike protein variants. The receptor structures were optimized using the CHARM-GUI server employing force field AMBERFF14SB. The algorithm embedded in CHARMM offers an efficient interpolation scheme and automatic step size selection, enhancing the efficiency of the optimization process. The 3D structures of the ligands are constructed and optimized with density functional theory (DFT) method based on the most stable conformer of each binder. Autodock Vina Software (ADV) was utilized, where essential parameters were specified. Electrostatic potential maps (MEPs) provide a visual depiction of molecules' charge distributions and related properties. After this, molecular dynamics simulations employing the CHARM36 force field in Gromacs 2022.2 were conducted to investigate GOs' interactions with surface macromolecules of SARS-CoV-2 in an explicit aqueous environment. Furthermore, our investigation suggests that lower values indicate stronger binding. Notably, GO-E consistently showed the most negative values across interactions with different variants, suggesting a higher affinity compared to other GOQDs (GO-A to GO-D).

Union between deciduous and permanent as intrusive luxation sequelae: A case report.

Traumatic dental injuries (TDI) are common in children due learning to walk and lack of balance that leads to falls. Luxation is the trauma that occurs most frequently in the deciduous, being that the intrusive and the avulsive are the ones that cause more damage to the permanent successors. The potential to cause disturbances to the developing permanent germ is high due to anatomical proximity and depends on age, direction of intrusion, severity and treatment. The consequences to the permanent range from hypocalcifications of enamel to retention of the permanent germ. In this case, the developmental disturbance of the tooth 21 presenting with acute dentoalveolar abscess was a result of a three-degree intrusive luxation of the deciduous predecessor. The tooth 61 was misdiagnosed initially as avulsion, but it was a total intrusion as uncovered after a radiographic examination that showed an image suggestive of the presence of the deciduous tooth. The deciduous was extracted along with his permanent successor through outpatient procedure under antibiotic coverage and local anesthesia. The macro and microscopic analysis of the piece evidenced the presence of elements 21 and 61 closely united, as well as alterations provoked in both. There was remission of the infectious process and after 7 days it was verified the correct healing of the surgical wound. The radical outcome of this case emphasizes the relevance of appropriate clinical support as soon as possible in all TDI.

Thermostability study of virulent Newcastle disease viruses isolated in Southern Angola.

Newcastle disease (ND) is endemic in Angola. Several outbreaks of ND occurred in small backyard flocks and village chickens with high mortality in the southern provinces of the country, Cunene, Namibe and Huíla, in 2016 and 2018. In those years, 15 virulent ND virus (NDV) strains were isolated and grouped within subgenotype 2 of genotype VII (subgenotype VII.2). We now present a study on the thermostability of the isolates, aiming at the selection of the most thermostable strains that, after being genetically modified to reduce their virulence, can be adapted to the production of vaccines less dependent on cold chain and more adequate to protect native chickens against ND. Heat-inactivation kinetics of haemagglutinin (Ha) activity and infectivity (I) of the isolates were determined by incubating aliquots of virus at 56 °C for different time intervals. The two isolates from Namibe province showed a decrease in infectivity of 2 log10 in ≤ 10 min, therefore belonging to the I-phenotype, but while the NB1 isolate from 2016 maintained the Ha activity up to 30 min and was classified as thermostable virus (I-Ha+), the Ha activity of the 2018 NB2 isolate decreased by 2 log2 in 30 min, being classified as a thermolabile virus (I-Ha-). Of the 13 NDV isolates from Huíla province, 10 isolates were classified as thermostable, eight with phenotype I+Ha+ and 2 with phenotype I-Ha+. The other three isolates from this province were classified as thermolabile viruses (I-Ha-).Contribution: This study will contribute to the control and/or eradication of Newcastle disease virus in Angola. The thermostable viral strains isolated from chickens in the country can be genetically manipulated by reverse genetic technology in order to reduce their virulence and use them as a vaccine in the remote areas of Angola.

Functional and Combined Training Promote Body Recomposition and Lower Limb Strength in Postmenopausal Women: A Randomized Clinical Trial and a Time Course Analysis.

Encouraging healthy aging in postmenopausal women involves advocating for lifestyle modifications, including regular physical exercise like combined training (CT) and functional training (FT). Regarding this population, age-related alterations in body composition, such as decreased muscle mass and heightened adipose tissue, impact health. The aim of this study was to analyze the effects of FT and CT on body recomposition in postmenopausal women. About the methods, we randomly allocated 96 post-menopausal women to the FT, CT, or control group (CG). We measured body composition by bioimpedance and lower limb muscle strength by sit-to-stand test in five repetitions, respectively. The training protocol lasted 16 weeks, and we measured body composition and lower limb muscle strength every 4 weeks, totaling five assessments. Regarding results, we notice that both training groups increased lean mass from the 8th week of training. In addition, a reduction was observed in total fat percentage and an increase in appendicular lean mass from the 12th week of intervention. No differences were found for body mass. Furthermore, only the experimental groups increase muscle strength, starting from the 4th week of training. The conclusion was that FT and CT promote similar adaptations in body recomposition without affecting body mass in postmenopausal women.

Effects of phytosterol supplementation on lipoprotein subfractions and LDL particle quality.

Phytosterols are natural components of plant-based foods used as supplements because of their known cholesterol-lowering effect. However, their effects on lipoprotein subfractions and the quality of the LDL particle have not been studied in greater detail. We aimed to evaluate the effects of phytosterols supplements on lipids, lipoproteins subfractions, and on the quality of LDL. A prospective, pilot-type, open label, cross-over study, randomized 23 males in primary prevention of hypercholesterolemia to receive diet or diet plus phytosterol (2.6 g in 2 doses, with meals) for 12 weeks, when treatments were switched for another 12 weeks. Lipoprotein subfractions were analyzed by electrophoresis in polyacrylamide gel (Lipoprint System®). The Sampson equation estimated the small and dense (sd) and large and buoyant (lb) LDL subfractions from the lipid profile. Quality of LDL particle was analyzed by Z-scan and UV-vis spectroscopy. Primary outcome was the comparison of diet vs. diet plus phytosterols. Secondary outcomes assessed differences between baseline, diet and diet plus phytosterol. Non-parametric statistics were performed with p < 0.05. There was a trend to reduction on HDL-7 (p = 0.05) in diet plus phytosterol arm, with no effects on the quality of LDL particles. Heatmap showed strong correlations (ρ > 0.7) between particle size by different methods with both interventions. Diet plus phytosterol reduced TC, increased HDL-c, and reduced IDL-B, whereas diet increased HDL7, and reduced IDL-B vs. baseline (p < 0.05, for all). Phytosterol supplementation demonstrated small beneficial effects on HDL-7 subfraction, compared with diet alone, without effects on the quality of LDL particles.This trial is registered in Clinical Trials (NCT06127732) and can be accessed at https://clinicaltrials.gov .

Epidemiological analysis of Dirofilaria immitis (Spirurida: Onchocercidae) infecting pet dogs (Canis lupus familiaris, Linnaeus, 1758) in Baixada Fluminense, Rio de Janeiro.

Dirofilaria immitis infection is routinely detected in dogs during veterinary care in tropical and subtropical regions worldwide. Parasitological tests for the detection of this infection are routinely performed only in areas with a high prevalence. Baixada Fluminense, a region in Rio de Janeiro, was considered heartworm-free until local veterinarians began to receive blood exams results indicating the presence of microfilariae (MF). A laboratory database was hence used to collect data from 2017 to 2020 to understand the extent of spread of the parasite in this area. The results of complete blood count analysis and MF or heartworm antigen detection tests conducted on canine samples sent from veterinary clinics in Baixada Fluminense (Magé, Duque de Caxias, Guapimirim, Nova Iguaçu, and São João de Meriti municipalities) were included. In total, the results of 16,314 hematological tests were considered. The overall prevalence of D. immitis was 3.4% (554/16,314), considering that only one test result was obtained per animal on the same day. This study is highly relevant because it indicates the spreading geographic distribution of the worms, heightens awareness among local health professionals and the general population, and encourages compliance with prophylactic measures to prevent further spread of parasite.

ViralFlow v1.0-a computational workflow for streamlining viral genomic surveillance.

ViralFlow v1.0 is a computational workflow developed for viral genomic surveillance. Several key changes turned ViralFlow into a general-purpose reference-based genome assembler for all viruses with an available reference genome. New virus-agnostic modules were implemented to further study nucleotide and amino acid mutations. ViralFlow v1.0 runs on a broad range of computational infrastructures, from laptop computers to high-performance computing (HPC) environments, and generates standard and well-formatted outputs suited for both public health reporting and scientific problem-solving. ViralFlow v1.0 is available at: https://viralflow.github.io/index-en.html.

Embryonic development of the scorpion mud turtle (Kinosternon scorpioides) bred in captivity.

Background: The developmental biology of Kinosternon scorpioides is described, based on the phenotype. This species is important for the flora because they are excellent seed disseminators. In addition, basic embryological information is not yet fully clarified, and this research provides unprecedented information on the chelonian embryology of the Amazonian fauna. Aim: The present study aims to identify the embryology of K. scorpioides in captivity during different periods. Methods: Females were monitored throughout the reproductive cycle, by video monitoring, to identify nests and the presence of newly laid eggs. At regular weekly intervals, embryo samples were collected fixed in a 4% paraformol solution and preserved in 70% alcohol. For the embryonic characterization, we used a stereomicroscope and the scanning electron microscopy method. Results: We describe 15 embryonic stages for a 15-week (105-day) incubation process. Only at 42 days (6th week) was the morphological characterization of a chelonian observed and at the 12th week (Stage XII), the phenotypic characterization of the species K. scorpioides. Conclusion: In view of the evidence, we found that these phases are similar to the other turtles, with structural variations in the appearance and disappearance of structures due to the specific characteristics of the species.

Recovery of the baroreflex and autonomic modulation after anesthesia with MS-222 in bullfrogs.

The time course for recovery after anesthesia is poorly described for tricaine methanesulfonate (MS-222). We suggest that the baroreflex and the heart rate variability (HRV) could be used to index the recovery of the autonomic modulation after anesthesia. We analyzed the recovery profile of behavioral and physiological parameters over time to analyze the progression of recovery after anesthesia of American bullfrogs with MS-222. Mean heart rate stabilized after 17 h, whereas the baroreflex efficiency index took 23 h and the baroreflex operating gain, 29 h. Mean arterial pressure recovered after 26 h. Power spectral density peaked at 23 h and again after 40 h. Baroreflex was a relevant component of the first phase of HRV, while autonomic modulation for resting may take longer than 40 h. We suggest that physiological recovery is a complex phenomenon with multiple progressive phases, and the baroreflex may be a useful tool to observe the first substantial recovery of post-instrumentation capacity for autonomic modulation.

Assessment of oral hygiene and quality of life of children with autism spectrum disorder and their caregivers: an observational clinical study.

OBJECTIVE: This study aimed to evaluate the degrees of dependence and presence of bacterial plaque in children with autism spectrum disorder (ASD) and the quality of life (QoL) of children and their caregivers. METHOD AND MATERIALS: This is a cross-sectional observational study. This study included one hundred and nineteen individuals with ASD and their caregivers. Data were collected through a sociodemographic questionnaire, WHOQOL-Bref, and Burden Interview to measure QoL and caregiver burden, respectively. The Autoquestionnaire Qualité de Vie Enfant Imagé questionnaire, adapted in game format, was applied to verify QoL in children with ASD. An oral clinical examination evaluated the visible plaque index. The collected data were tabulated and organized for statistical analysis with a significance level of 5%. RESULTS: It was observed that 52% of the children had a severity of ASD level 1, 70% were dependent on general activities, and 65% were dependent on oral hygiene. Of the 77 children who thoroughly answered the questionnaire about their QoL, 64.9% had good QoL, and 35.1% had scores below 48, that is, low QoL. In general, the caregivers generally presented QoL with a rate of 60.95 (good) points on the scale. It was observed that gingival bleeding greater than 30% is 2 (ASD 2 + ASD 3) to 3 (ASD 3) times more likely to occur in patients who have higher levels of ASD (p˂0.004). CONCLUSION: It was concluded that the QoL of individuals with ASD was good, that most children depend on their daily activities and oral hygiene, and that they showed reasonable plaque control. On the other hand, the caregivers presented low QoL and moderate burden.

Spatiotemporal transmission of SARS-CoV-2 lineages during 2020-2021 in Pernambuco-Brazil.

SARS-CoV-2 virus emerged as a new threat to humans and spread around the world, leaving a large death toll. As of January 2023, Brazil is among the countries with the highest number of registered deaths. Nonpharmacological and pharmacological interventions have been heterogeneously implemented in the country, which, associated with large socioeconomic differences between the country regions, has led to distinct virus spread dynamics. Here, we investigate the spatiotemporal dispersion of SARS-CoV-2 lineages in the Pernambuco state (Northeast Brazil) throughout the distinct epidemiological scenarios that unfolded in the first 2 years of the pandemic. We generated a total of 1,389 new SARS-CoV-2 genomes from June 2020 to August 2021. This sampling captured the arrival, communitary transmission, and the circulation of the B1.1, B.1.1.28, and B.1.1.33 lineages; the emergence of the former variant of interest P.2; and the emergence and fast replacement of all previous variants by the more transmissible variant of concern P.1 (Gamma). Based on the incidence and lineage spread pattern, we observed an East-to-West to inner state pattern of transmission, which is in agreement with the transmission of more populous metropolitan areas to medium- and small-size country-side cities in the state. Such transmission patterns may be partially explained by the main routes of traffic across municipalities in the state. Our results highlight that the fine-grained intrastate analysis of lineages and incidence spread can provide actionable insights for planning future nonpharmacological intervention for air-borne transmissible human pathogens.IMPORTANCEDuring the COVID-19 pandemic, Brazil was one of the most affected countries, mainly due its continental-size, socioeconomic differences among regions, and heterogeneous implementation of intervention methods. In order to investigate SARS-CoV-2 dynamics in the state of Pernambuco, we conducted a spatiotemporal dispersion study, covering the period from June 2020 to August 2021, to comprehend the dynamics of viral transmission during the first 2 years of the pandemic. Throughout this study, we were able to track three significant epidemiological waves of transmission caused by B1.1, B.1.1.28, B.1.1.33, P.2, and P.1 lineages. These analyses provided valuable insights into the evolution of the epidemiological landscape, contributing to a deeper understanding of the dynamics of virus transmission during the early years of the pandemic in the state of Pernambuco.

Pericapsular Hip Block Guided by Ultrasonography in Elderly People with Hip Fracture in the Emergency Sector: Clinical Trial.

Objectives This study evaluated pain intensity in elderly subjects with hip fractures admitted to the emergency sector and undergoing preoperative pericapsular nerve group (PENG) block. Additionally, the degree of tolerable hip flexion was assessed. Methods A prospective, randomized, and controlled clinical trial with parallel groups. The control group consisted of elderly subjects with hip fractures undergoing standardized intravenous systemic analgesia. The intervention group consisted of elderly patients with hip fractures undergoing PENG block and standardized systemic analgesia. The groups were evaluated at rest and during movement using the Pain Assessment in Advanced Dementia (PAINAD) scale. We determined pain intensity and reduction, in addition to the degree of tolerable flexion of the fractured hip. All patient assessments occurred before the medication or block administration and at 45 minutes, 12, 24, and 36 hours postmedication or block. Results Preoperatively and 24 hours after PENG block, elderly subjects with hip fracture showed a significant reduction in pain at rest or movement compared to control patients ( p < 0.05), with 60% of patients assessed at rest demonstrating desirable pain reduction (≥50%) and only 13.3% of the control group achieving the desired pain reduction. During movement, after undergoing PENG block, 40% of subjects demonstrated the desired pain reduction and no patient from the control group. The intervention group also showed a significant improvement in the tolerable hip flexion group ( p < 0.05). Conclusion Preoperative PENG block in elderly subjects with hip fractures admitted to the emergency sector provided a significant reduction in pain compared with the control group.

Autosomal Recessive IL-12p40 Deficiency due to a Mutation in the IL12B Gene: Report of a Brazilian Patient with Lymph Node Mycobacterial Infection.

Background: Autosomal recessive interleukin (IL)-12p40 deficiency is a genetic etiology of Mendelian susceptibility to mycobacterial disease (MSMD). It has been described in ∼50 patients, usually with onset at childhood with Bacille Calmette-Guérin (BCG) and Salmonella infections. Case Presentation: A male patient born to consanguineous parents was diagnosed with presumed lymph node MSMD at the age of 13 years after ocular symptoms. A positive history of inborn error of immunity was present: BCG reaction, skin abscess, and recurrent oral candidiasis. Abnormal measurements of cytokine levels, IL-12p40 and interferon-gamma (IFN-γ), lead to the diagnosis of MSMD. Genetic analysis showed a mutation in exon 7 of the IL12B gene. Currently, the patient is alive under prophylactic antibiotics. Conclusion: We report a rare case of IL-12p40 deficiency in a Latin American patient. Medical history was crucial for immune defect suspicion, as confirmed by precision diagnostic medicine tools.

Long COVID: neurological manifestations - an updated narrative review.

Infection with the SARS-CoV-2 virus can lead to neurological symptoms in the acute phase and in the Long COVID phase. These symptoms usually involve cognition, sleep, smell disorders, psychiatric manifestations, headache and others. This condition is more commonly described in young adults and women. This symptomatology can follow severe or mild cases of the disease. The importance of this issue resides in the high prevalence of neurological symptoms in the Long COVID phase, which entails significant morbidity in this population. In addition, such a condition is associated with high health care costs, with some estimates hovering around 3.7 trillion US dollars. In this review, we will sequentially describe the current knowledge about the most prevalent neurological symptoms in Long COVID, as well as their pathophysiology and possible biomarkers.

A infecção pelo vírus SARS-CoV-2 pode levar a sintomas neurológicos na fase aguda e na fase de COVID longa. Esses sintomas geralmente envolvem cognição, sono, distúrbios do olfato, manifestações psiquiátricas, dor de cabeça e outros. Esta condição é mais comumente descrita em adultos jovens e mulheres. A sintomatologia pode acompanhar casos graves ou leves da doença. A importância desta questão reside na elevada prevalência de sintomas neurológicos na fase de COVID longa, o que acarreta morbilidade significativa nesta população. Além disso, tal condição está associada a elevados custos de cuidados de saúde, com algumas estimativas em torno de 3,7 trilhões de dólares americanos. Nesta revisão, descrevemos sequencialmente o conhecimento atual sobre os sintomas neurológicos mais prevalentes na COVID longa, bem como sua fisiopatologia e possíveis biomarcadores.

COVID-19 outbreaks surveillance through text mining applied to electronic health records.

BACKGROUND: The COVID-19 pandemic has caused significant disruptions to everyday life and has had social, political, and financial consequences that will persist for years. Several initiatives with intensive use of technology were quickly developed in this scenario. However, technologies that enhance epidemiological surveillance in contexts with low testing capacity and healthcare resources are scarce. Therefore, this study aims to address this gap by developing a data science model that uses routinely generated healthcare encounter records to detect possible new outbreaks early in real-time. METHODS: We defined an epidemiological indicator that is a proxy for suspected cases of COVID-19 using the health records of Emergency Care Unit (ECU) patients and text mining techniques. The open-field dataset comprises 2,760,862 medical records from nine ECUs, where each record has information about the patient's age, reported symptoms, and the time and date of admission. We also used a dataset where 1,026,804 cases of COVID-19 were officially confirmed. The records range from January 2020 to May 2022. Sample cross-correlation between two finite stochastic time series was used to evaluate the models. RESULTS: For patients with age 18 years, we find time-lag () = 72 days and cross-correlation () ~ 0.82, = 25 days and ~ 0.93, and = 17 days and ~ 0.88 for the first, second, and third waves, respectively. CONCLUSIONS: In conclusion, the developed model can aid in the early detection of signs of possible new COVID-19 outbreaks, weeks before traditional surveillance systems, thereby anticipating in initiating preventive and control actions in public health with a higher likelihood of success.