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1.
Rev Bras Enferm ; 77(2): e20230363, 2024.
Artigo em Inglês, Português | MEDLINE | ID: mdl-38896712

RESUMO

OBJECTIVE: To analyze the social representations of fibromyalgia based on its symptoms and their influences on diagnosis and therapy. METHODS: Qualitative research with the application of the Theory of Social Representations and snowball sampling method. Semi-structured interviews were conducted with 30 adults diagnosed with fibromyalgia in the city of Rio de Janeiro, Brazil, between April 2020 and January 2021. Statistical and lexicographical analysis was performed using Alceste software. RESULTS: Pain, as a subjective phenomenon, complicates its legitimacy, diagnosis, and therapy, enhancing suffering. Insufficient information generates judgments, stereotypes, and prejudices. FINAL CONSIDERATIONS: Stigmas, prejudices, the variety and invisibility of symptoms make it difficult to objectify the disease within the Cartesian-biomedical frameworks, generating diagnostic pilgrimage, mistakes, and challenges in treatment. Such representations hinder relationships and the management of the disease. Deconstructing them is a way to better care for those with fibromyalgia. Raising awareness and spreading qualified information are important allies.


Assuntos
Fibromialgia , Pesquisa Qualitativa , Fibromialgia/terapia , Fibromialgia/diagnóstico , Fibromialgia/psicologia , Humanos , Feminino , Brasil , Adulto , Masculino , Pessoa de Meia-Idade , Entrevistas como Assunto/métodos
2.
Nutr Bull ; 49(2): 168-179, 2024 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-38616357

RESUMO

Obesity has a multifactorial origin. Among the behavioural risk factors, excessive consumption of unhealthy foods, skipping breakfast and reduced physical activity stand out. The main objective of this article was to identify trends in dietary habits and their association with overweight/obesity over a 12-year period in schoolchildren aged 7 to 10 years in Florianópolis, southern Brazil. A cross-sectional panel analysis study, using anthropometric, sociodemographic, physical activity and food consumption data of schoolchildren aged 7 to 10 years, collected in three waves of the Study of Prevalence of Obesity in Children and Adolescents (EPOCA), carried out during the years 2007, 2012/2013 and 2018/2019, was performed. To analyse the trend in dietary variables over the years, the 95% CIs were compared with the non-overlap of intervals indicating statistical significance. Multiple logistic regression analysis was performed to test the association of weight status with dietary markers. The prevalence of overweight/obesity was 34.4%, 37.2% and 34.2% in 2007, 2012/2013 and 2018/2019, respectively, and there were no statistically significant differences among waves. There was a progressive and significant reduction in the consumption of soft drinks and sweets and in eating breakfast by schoolchildren, from 2007 to 2019. Breakfast consumption was inversely associated with the chance of overweight/obesity (OR 0.74, 95% CI 0.59-0.93), and female students were less likely to have overweight/obesity when compared to boys (OR 0.70, 95% CI 0.61-0.81). The reduction in the consumption of soft drinks and sweets over the years might be caused by efforts in public policies that intended to reduce the consumption of unhealthy foods among schoolchildren. The progressive and significant reduction in having breakfast should be better elucidated in future studies, to minimise the potential impact of this practice on schoolchildren's bodyweight.


Assuntos
Desjejum , Dieta , Comportamento Alimentar , Obesidade Infantil , Humanos , Criança , Masculino , Feminino , Estudos Transversais , Obesidade Infantil/epidemiologia , Brasil/epidemiologia , Dieta/efeitos adversos , Dieta/estatística & dados numéricos , Dieta/tendências , Prevalência , Exercício Físico , Sobrepeso/epidemiologia
3.
Autops Case Rep ; 14: e2024485, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38628284

RESUMO

Giant hepatic hemangiomas are occasional in patients with cirrhosis. It remains a challenge to decide on the need for treatment and choose the most appropriate intervention. A 62-year-old woman was recently diagnosed with cirrhosis and complained of upper abdominal fullness, reduction in oral food intake, and weight loss of 6 kg over the last three years. Upper digestive endoscopy evidenced thin-caliber esophageal varices and significant extrinsic compression of the lesser gastric curvature. Abdominal computed tomography revealed an exophytic tumor in the left hepatic lobe, measuring 11.5 cm, which had progressive centripetal contrast enhancement from the arterial phase, compatible with hepatic hemangioma. Serum tumor markers were negative, and her liver function was unimpaired. The patient underwent surgical resection (non-anatomical hepatectomy of segments II and III) which had no immediate complications, and the histopathological evaluation confirmed cavernous hepatic hemangioma. Two weeks later, she was admitted to the emergency room with jaundice, signs of hepatic encephalopathy, and moderate ascites, and was further diagnosed with secondary bacterial peritonitis. As no perforations, abscesses, or fistulas were observed on subsequent imaging tests, clinical management was successfully carried out. This case highlights that giant hepatic hemangiomas may be symptomatic and warrant treatment. In the setting of cirrhosis and portal hypertension, physicians should be aware of the risk of hepatic decompensation following surgical resection, even in patients with Child-Pugh class A.

4.
Neurol Res ; 46(5): 453-465, 2024 May.
Artigo em Inglês | MEDLINE | ID: mdl-38634361

RESUMO

OBJECTIVE: To analyze the effects of transcranial direct current stimulation (tDCS) and transcranial magnetic stimulation (TMS) on the cognitive function of individuals with Alzheimer's disease (AD). METHODS: This systematic review with meta-analysis and meta-regression included randomized clinical trials published until 05/2022. We included studies conducted with individuals with AD of both sexes, aged between 55 and 85 years, treated with tDCS, TMS, or both. RESULTS: Twenty-one studies were included in the systematic review and sixteen in the meta-analysis. Meta-regression suggested a significant influence of anodic tDCS with current intensity of 1.5 mA on cognitive function. Significant results were found with treatment frequencies of three and five days a week for two weeks. Subgroup analysis found that anodic tDCS influences cognitive function, regardless of AD stage. Similar was observed for TMS using a frequency of 20 Hz and current intensity of 90% of the resting motor threshold. DISCUSSION: Anodal tDCS and 20 Hz TMS have demonstrated the ability to improve cognitive function in AD by modulating neural activity. These therapies are safe and well-tolerated, offering promise as adjuncts to available pharmacological treatments. Studies with greater methodological rigor and parameter standardization are warranted. Comprehensive investigations involving neuroimaging techniques may provide a better understanding of the interaction between induced electrical fields and the complex neural networks affected in AD, paving the way for more personalized and effective neurostimulation approaches.


Assuntos
Doença de Alzheimer , Cognição , Estimulação Transcraniana por Corrente Contínua , Estimulação Magnética Transcraniana , Idoso , Idoso de 80 Anos ou mais , Feminino , Humanos , Pessoa de Meia-Idade , Doença de Alzheimer/terapia , Doença de Alzheimer/psicologia , Cognição/fisiologia , Estimulação Transcraniana por Corrente Contínua/métodos , Estimulação Magnética Transcraniana/métodos
5.
Eur J Obstet Gynecol Reprod Biol ; 294: 143-147, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-38244429

RESUMO

OBJECTIVE: To describe a single-center experience managing women with vulvar squamous cancer and analyze factors influencing their survival. STUDY DESIGN: It is an observational longitudinal retrospective study that reviewed medical records of patients admitted for treatment at the University of Campinas between 2010 and 2019, followed up until June 2022. The final sample was 108 cases. The main outcomes were disease-free survival (DFS) and overall survival (OS). Other variables were age, stage, relapse, and race. Vital status was accessed by medical records, active search, or public online register. Survival analysis was performed by the Kaplan-Meier method and Log-rank Test, and Regression Cox-Model assessed risks. RESULTS: The mean age in stages IA and IB were 65.0 years, and in stages II + III + IVA 71.1 years. Women 70 years or older were more related to diagnosis in stages II + III + IVA (p = 0.019). Progression was observed in 7 (16.7 %) patients in stage IB and 30 (65.2 %) in stage II + III + IVA. Both five-year (5y) DFS and OS were significantly different in stage IB and II + III + IVA (5y-DFS 70.5 % and 39.3 %, p = 0.024; 65.1 % and 24.3 %, p < 0.001). In stages II + III + IVA, most deaths happened before 24 months of follow-up. The primary treatment was surgery in 81.0 % of stage IB and 47.8 % of stage II + III + IVA. A higher OS was observed in patients treated primarily by surgery compared to radiotherapy in stage IB (p = 0.008), and in stages II + III + IVA (p = 0.013). Surgery followed or not by adjuvant radiotherapy was independently associated with a 60 % adjusted death protection compared to radiotherapy alone as primary treatment (0.40, 0.23;0.70). CONCLUSIONS: Half of the patients have been diagnosed in stage I. The progression rate was high in the advanced stages of the disease. Overall survival by stage was improved when surgery was the primary treatment. Surgery was independently associated with death.


Assuntos
Carcinoma de Células Escamosas , Neoplasias Vulvares , Idoso , Feminino , Humanos , Carcinoma de Células Escamosas/patologia , Intervalo Livre de Doença , Recidiva Local de Neoplasia , Estadiamento de Neoplasias , Estudos Retrospectivos , Neoplasias Vulvares/cirurgia , Estudos Longitudinais
6.
Rev Esp Enferm Dig ; 116(1): 44-45, 2024 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-36975149

RESUMO

Gastrointestinal amyloidosis can be primary, more associated with monoclonal plasma cell dyscrasia, or secondary, usually secondary to a tissue-destructive, chronic inflammatory process (such as inflammatory bowel disease, for example) and long-term dialysis. The rare presentation of severe acute liver failure in systemic amyloidosis can make this diagnosis/ management more difficult. Hepatomegaly with signs of diffuse infiltrative disease and periportal involvement associated with thoracic and other abdominal radiological findings in the appropriate clinical context may constitute a diagnostic imaging clue in this challenge.


Assuntos
Amiloidose , Falência Hepática Aguda , Humanos , Amiloidose/complicações , Amiloidose/diagnóstico por imagem , Falência Hepática Aguda/diagnóstico por imagem , Falência Hepática Aguda/etiologia
8.
Autops. Case Rep ; 14: e2024485, 2024. tab, graf
Artigo em Inglês | LILACS-Express | LILACS | ID: biblio-1557162

RESUMO

ABSTRACT Giant hepatic hemangiomas are occasional in patients with cirrhosis. It remains a challenge to decide on the need for treatment and choose the most appropriate intervention. A 62-year-old woman was recently diagnosed with cirrhosis and complained of upper abdominal fullness, reduction in oral food intake, and weight loss of 6 kg over the last three years. Upper digestive endoscopy evidenced thin-caliber esophageal varices and significant extrinsic compression of the lesser gastric curvature. Abdominal computed tomography revealed an exophytic tumor in the left hepatic lobe, measuring 11.5 cm, which had progressive centripetal contrast enhancement from the arterial phase, compatible with hepatic hemangioma. Serum tumor markers were negative, and her liver function was unimpaired. The patient underwent surgical resection (non-anatomical hepatectomy of segments II and III) which had no immediate complications, and the histopathological evaluation confirmed cavernous hepatic hemangioma. Two weeks later, she was admitted to the emergency room with jaundice, signs of hepatic encephalopathy, and moderate ascites, and was further diagnosed with secondary bacterial peritonitis. As no perforations, abscesses, or fistulas were observed on subsequent imaging tests, clinical management was successfully carried out. This case highlights that giant hepatic hemangiomas may be symptomatic and warrant treatment. In the setting of cirrhosis and portal hypertension, physicians should be aware of the risk of hepatic decompensation following surgical resection, even in patients with Child-Pugh class A.

9.
Rev. bras. enferm ; 77(2): e20230363, 2024. tab
Artigo em Inglês | LILACS-Express | LILACS, BDENF - Enfermagem | ID: biblio-1559478

RESUMO

ABSTRACT Objective: To analyze the social representations of fibromyalgia based on its symptoms and their influences on diagnosis and therapy. Methods: Qualitative research with the application of the Theory of Social Representations and snowball sampling method. Semi-structured interviews were conducted with 30 adults diagnosed with fibromyalgia in the city of Rio de Janeiro, Brazil, between April 2020 and January 2021. Statistical and lexicographical analysis was performed using Alceste software. Results: Pain, as a subjective phenomenon, complicates its legitimacy, diagnosis, and therapy, enhancing suffering. Insufficient information generates judgments, stereotypes, and prejudices. Final Considerations: Stigmas, prejudices, the variety and invisibility of symptoms make it difficult to objectify the disease within the Cartesian-biomedical frameworks, generating diagnostic pilgrimage, mistakes, and challenges in treatment. Such representations hinder relationships and the management of the disease. Deconstructing them is a way to better care for those with fibromyalgia. Raising awareness and spreading qualified information are important allies.


RESUMEN Objetivo: Analizar las representaciones sociales de la fibromialgia basadas en sus síntomas y sus influencias en el diagnóstico y la terapia. Métodos: Investigación cualitativa con la aplicación de la Teoría de las Representaciones Sociales y método de muestreo en bola de nieve. Se realizaron entrevistas semiestructuradas con 30 personas adultas, diagnosticadas con fibromialgia, en la ciudad de Río de Janeiro, Brasil, entre abril de 2020 y enero de 2021. Se llevó a cabo un análisis estadístico y lexicográfico mediante el software Alceste. Resultados: El dolor, como fenómeno subjetivo, dificulta su legitimidad, el diagnóstico y la terapia, intensificando el sufrimiento. La información insuficiente genera juicios, estereotipos y prejuicios. Consideraciones finales: Los estigmas, prejuicios, la variedad y la invisibilidad sintomática dificultan la objetivación de la enfermedad en los modelos cartesianos-biomédicos, generando una peregrinación diagnóstica, errores y desafíos en el tratamiento. Tales representaciones obstaculizan las relaciones y el manejo de la enfermedad. Desconstruirlas es un camino para mejorar el cuidado de quienes tienen fibromialgia. Sensibilizar a las personas y difundir información cualificada son aliados importantes.


RESUMO Objetivo: Analisar as representações sociais da fibromialgia baseadas em seus sintomas e suas influências no diagnóstico e na terapêutica. Métodos: Pesquisa qualitativa com aplicação da Teoria das Representações Sociais e método de amostragem snowball. Realizaram-se entrevistas semiestruturadas com 30 pessoas adultas, diagnosticadas com fibromialgia, na cidade do Rio de Janeiro, Brasil, entre abril de 2020 e janeiro de 2021. Foi realizada análise estatística e lexicográfica pelo software Alceste. Resultados: A dor, como fenômeno subjetivo, dificulta sua legitimidade, o diagnóstico e a terapêutica, potencializando o sofrimento. Informações insuficientes geram julgamentos, estereótipos e preconceitos. Considerações finais: Estigmas, preconceitos, a variedade e a invisibilidade sintomatológica dificultam a objetivação da doença nos moldes cartesianos-biomédicos, gerando peregrinação diagnóstica, equívocos e desafios no tratamento. Tais representações interditam as relações e o manejo da doença. Desconstruí-las é um caminho para melhor cuidar dos que têm fibromialgia. Sensibilizar as pessoas e difundir informações qualificadas são importantes aliados.

10.
Plant Dis ; 2023 Dec 08.
Artigo em Inglês | MEDLINE | ID: mdl-38069456

RESUMO

Türkiye is a major apple fruit producer in the crossroads of Europe and the Middle East. Several reports have described the presence of multiple viruses affecting apple production in Türkiye, including apple stem grooving virus (ASGV), apple stem pitting virus (ASPV), apple chlorotic leafspot virus (ACLSV), and apple mosaic virus (ApMV) (Kurçman 1977; Fidan 1994; Çaglayan et al. 2003). However, there are no reports of the presence of the recently discovered bunya-like viruses citrus concave gum-associated virus (CCGaV), and apple rubbery wood viruses 1 and 2 (ARWV1 and 2), as well as apple luteovirus 1 (ALV-1), and apple hammerhead viroid (AHVd) in Türkiye, all of which have been previously reported in other apple-producing countries (Wright et al. 2018; Liu et al. 2018; Zhang et al. 2014). Leaves from one Gala, two Granny Smith, and one Golden Delicious apple trees showing mild symptoms of curling, chlorosis, and yellowing were collected from four different orchards in the province of Hakkari, southeast Türkiye during June 2022 and sent to USDA APHIS Plant Germplasm Quarantine Program (under permit) for virus and viroid HTS-based diagnostics. Total RNA was isolated using the RNeasy Plant Mini Kit (Qiagen) following the manufacturer's guidelines to prepare RNAseq libraries using the TruSeq Stranded Total RNA Library Plant Kit (Illumina, Inc) as described in Malapi-Wight et al. (2021). Libraries were sequenced on the NextSeq500 sequencer (PE 2x75), and approximately 45 million reads were obtained per each sample on average. Bioinformatic analysis was performed as described in Costa et al. (2022) using Phytopipe, where unclassified pathogen-derived reads were de novo assembled and contigs were compared to the NCBI viral nucleotide and protein databases by BlastN and BlastX respectively using a 10-4 e-value cutoff. Nearly complete genome contigs were obtained for ACLSV (OR640150) and ASPV (OR640151) in all four samples and for ASGV (OR640152) in 3 of the 4 samples. The average BlastN identity to sequences in GenBank was 92.3% for ACLSV, ranging from 89-94 %. BlastN identity for ASPV was 86%, ranging from 81-92 % while the ASGV average BlastN identity was 98.2%. Nearly complete genomes with average genome coverage of 92.4% and 95.6% for RNA1 and RNA2 of CCGaV (OR640153 and OR640154), were found in two of the four samples with BlastN identity of 94.7% and 94.8% to GenBank sequences. Additionally, nearly complete genome of the large (L), medium (M), and small (S) segments for ARWV1 were found in two samples with average genome coverage of 99.9%, 99.4%, and 100% respectively and BlastN identity of 98.8%, 95.2%, and 98.4% (OR640155, OR640156, OR640157). ARWV2 contigs were also found in 1 sample where M and S segments had a coverage of 99.8% and BlastN identity of 95.4% (OR640158 and OR640159). The nearly complete genome of ALV-1 was also found in two of four samples with genome coverage of 94.1% and an average BlastN identity of 93.4% (OR640160). AHVd was found in one of the Granny Smith trees with 19,260 mapped reads to the reference GenBank MH049335.1 and identity of 98.3% (OR640149). The HTS findings of CCGaV, ARWV1, ARWV2, and ALV-1, from Türkiye were later confirmed by Sanger sequencing using custom-designed primers targeting the coat protein, the RNA-dependent RNA polymerase, or ~390bp for the AHVd genome (Supplementary Table 1). To further learn about the incidence of these agents, we tested 12 other apple samples from six different neighboring orchards and found them at 18.8% rate for CCGaV, 12.5% for both ARWV1 and ARWV2, 25% for ALV-1, and 37.5% for AHVd respectively. To our knowledge, this is the first report of the apple viruses CCGaV, ARWV1, ARWV2, and ALV-1, and the AHVd viroid in Türkiye. Further studies of the impact of these agents on orchard's health are necessary, including their prevalence in high apple production regions of Türkiye.

12.
Environ Sci Process Impacts ; 25(12): 1926-1936, 2023 Dec 13.
Artigo em Inglês | MEDLINE | ID: mdl-37853802

RESUMO

Per and polyfluoroalkylated substances (PFAS) are common additives in ski waxes for their water repellent characteristic. Abrasion of ski wax leaves PFAS on the snow surface, however, little is known about the distribution and concentration of PFAS in snow and soil due to skiing. In this study we analysed different ski waxes, snowmelts and soil from family skiing areas from Alpine locations using targeted high performance liquid chromatography tandem mass spectrometry (HPLC-MS/MS) to understand more about PFAS distribution in the environment. In general, we found a very diverse PFAS pattern in the analysed media. PFAS level was higher in skiing areas compared to the non-skiing ones that were used as control. ∑target PFAS ranged between <1.7 ng L-1 and 143 ng L-1 in snowmelt, <0.62 ng g-1 and 5.35 ng g-1 in soil and <1.89 and 874 ± 240 ng g-1 in ski wax samples. Snowmelt was dominated by short-chained PFAS, while soil and wax contained both short and long-chained PFAS. Extractable organic fluorine (EOF) was several orders of magnitude higher for waxes (0.5-2 mg g-1) than for soils (up to 0.3 µg g-1), while total fluorine (TF) content of the waxes was even higher, up to 31 210 ± 420 µg g-1. We also showed that the ∑ target PFAS accounts for up to 1.5% in EOF content, showing that targeted LC-MS/MS gives a limited measure of the pollution originated from ski waxes and non-targeted analysis and EOF is necessary for a better overview on PFAS distribution.


Assuntos
Fluorocarbonos , Esqui , Solo/química , Flúor , Cromatografia Líquida , Espectrometria de Massas em Tandem , Ceras , Fluorocarbonos/análise
13.
Braz J Microbiol ; 54(4): 2939-2949, 2023 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-37747624

RESUMO

Urban channels in amazon cities are very polluted, with garbage and sewage disposal in these aquatic environments, favoring the high dissemination of waterborne viruses such as human adenovirus (HAdV). The aim of this study was to perform the detection and molecular characterization of adenovirus in urban channels and in a wastewater treatment plant located in a metropolitan city in the Amazon. Additionally, metagenomic analyses were performed to assess viral diversity. Samples were concentrated by organic flocculation, analyzed by quantitative real time PCR (qPCR) and sequenced (Sanger e next generation sequencing). Cell culture was performed to verify the viability of HAdV particles. A total of 104 samples were collected, being the HAdV positivity of 76% (79/104). Among the positive samples, 29.1% (23/79) were characterized as HAdV-F40 (87%, 20/23), HAdV-F41 (8.7%, 2/23), and HAdV-B (4.3%, 1/23). Average precipitation rates ranged from 163 to 614 mm, while the pH ranged from 6.9 to 7.6. Eight positive samples were inoculated into A549 cells and in 4 of these, was observed changes in the structure of the cell monolayer, alteration in the structure of the cell monolayer was observed, but without amplification when analyzed by PCR. The metagenomic data demonstrated the presence of 14 viral families, being the most abundant: Myoviridae (41% of available reads), Siphoviridae (24.5%), Podoviridae (14.1%), and Autographiviridae (6.9%) with more than 85% of the total number of identified reads. This study reinforcing that continuous surveillance may contribute to monitoring viral diversity in aquatic environments and provide early warning of potential outbreaks.


Assuntos
Adenoviridae , Adenovírus Humanos , Humanos , Brasil , Adenovírus Humanos/genética , Monitoramento Ambiental , Reação em Cadeia da Polimerase em Tempo Real
14.
Adv Food Nutr Res ; 106: 95-127, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37722778

RESUMO

Caffeine is a trimethylxanthine found in coffee and several other foods and beverages. Its stimulatory effects make it an interesting strategy to boost performance for athletic populations. Scientific evidence supports its efficacy to improve high-intensity endurance exercise, explosive and high-intensity efforts, resistance exercise, team sports and combat sports, though individual variation in the ergogenic response to caffeine exists. Supplementation can be taken in many forms including dissolved in water, via capsules, coffee, energy drinks and caffeinated gum; ingestion via capsules, dissolved in water or in caffeinated gum appear to be most effective. Variability in the exercise response following caffeine supplementation may be explained by genetic factors or habitual caffeine consumption. Caffeine is an excellent supplement for athletes looking to improve their exercise performance, though some consideration of side-effects and impact on sleep are warranted.


Assuntos
Cafeína , Esportes , Humanos , Cafeína/farmacologia , Café , Cápsulas , Suplementos Nutricionais , Água
15.
Brain Sci ; 13(8)2023 Aug 05.
Artigo em Inglês | MEDLINE | ID: mdl-37626525

RESUMO

OBJECTIVE: To report a series of atypical presentations of Aicardi-Goutières syndrome. METHODS: Clinical, neuroimaging, and genetic data. RESULTS: We report a series of six unrelated patients (five males) with a subacute loss of developmental milestones, pyramidal signs, and regression of communication abilities, with onset at ages ranging from 7 to 20 months, reaching a nadir after 4 to 24 weeks. A remarkable improvement of lost abilities occurred in the follow-up, and they remained with residual spasticity and dysarthria but preserved cognitive function. Immunization or febrile illness occurred before disease onset in all patients. CSF was normal in two patients, and in four, borderline or mild lymphocytosis was present. A brain CT scan disclosed a subtle basal ganglia calcification in one of six patients. Brain MRI showed asymmetric signal abnormalities of white matter with centrum semi-ovale involvement in five patients and a diffuse white matter abnormality with contrast enhancement in one. Four patients were diagnosed and treated for acute demyelinating encephalomyelitis (ADEM). Brain imaging was markedly improved with one year or more of follow-up (average of 7 years), but patients remained with residual spasticity and dysarthria without cognitive impairment. Demyelination relapse occurred in a single patient four years after the first event. Whole-exome sequencing (WES) was performed in all patients: four of them disclosed biallelic pathogenic variants in RNASEH2B (three homozygous p.Ala177Thr and one compound heterozygous p.Ala177Thr/p.Gln58*) and in two of them the same homozygous deleterious variants in RNASEH2A (p.Ala249Val). CONCLUSIONS: This report expands the phenotype of AGS to include subacute developmental regression with partial clinical and neuroimaging improvement. Those clinical features might be misdiagnosed as ADEM.

17.
Hematol., Transfus. Cell Ther. (Impr.) ; 45(supl.2): S18-S24, July 2023. tab, graf
Artigo em Inglês | LILACS | ID: biblio-1514193

RESUMO

ABSTRACT Introduction: Improving survival of Acute Lymphoblastic Leukemia (ALL) in adult patients has been a challenge. Despite intensive chemotherapy treatment, overall survival is poor. However, several studies demonstrate that young adult patients have better survival when treated with pediatric-based intensive regimens. Considering these results, We decided to treat newly diagnosed ALL patients according to age and risk factors. The goal of this study was to describe the results of this intensive chemotherapy treatment approach for ALL adult patients diagnosed at our institution. Methods: Fifty-eight ALL patients, diagnosed from 2004 to 2013, were included in the analysis. Patients were assigned to either the St. Jude Total Therapy XIIIB high-risk arm (St Jude) or the CALGB 8811 (CALGB). The Kaplan-Meier survival curve was used for the survival analyses and the Cox proportional hazard regression, for multivariable analysis. Results: The overall survival was 22.9% at 10 years. The St. Jude improved survival, compared to the CALGB (p = 0.007), with 32.6% vs. 7.4% survival rate at 10 years. However, no survival benefit was found for patients younger than 20 years old (p = 0.32). The multivariable analysis demonstrated that undetectable minimal residual disease (MRD) and hematopoietic stem cell transplantation (HSCT) had beneficial impact on survival (p = 0.0007 and p = 0.004, respectively). Conclusion: ALL is a disease of poor prognosis for adults. The joint effort to standardize treatment and seek solutions is the way to start improving this scenario.


Assuntos
Leucemia-Linfoma Linfoblástico de Células Precursoras
18.
Clin Case Rep ; 11(6): e7505, 2023 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-37305872

RESUMO

Key Clinical Message: Persistent hypotension is a rare complication of celiac plexus neurolysis. It is important to know what are the main and rare complications and how to treat these in patients who undergo CPN. Abstract: Celiac plexus neurolysis is an effective treatment for visceral abdominal pain in oncological patients. Although it rarely has complications, some side effects may occur. A patient with visceral abdominal pain who developed long-lasting orthostatic hypotension and was treated with the use of corticosteroids after a neurolytic celiac plexus block for intractable pain. We describe a rare complication and its treatment and we emphasize the importance of having a guide for the management and treatment of rare complications. We also suggest that every patient be informed about complications, from the most common to the rarest.

19.
Brain Sci ; 13(6)2023 Jun 03.
Artigo em Inglês | MEDLINE | ID: mdl-37371383

RESUMO

Naturalistic paradigms are being increasingly applied to investigate human brain function. Compared with resting-state and task-based paradigms in neuroimaging, naturalistic stimuli and situations can be potentially more readily translated to daily-life applications. Among neuroimaging modalities, functional near-infrared spectroscopy (fNIRS) is particularly suitable for naturalistic investigations and applications. However, specific and tailored statistical analysis to interrogate brain function using naturalistic fNIRS is warranted. Here, we describe an exploratory graph-centrality-based approach to investigating participants' spatiotemporal similarities from the fNIRS signal. We illustrate the usefulness of our approach in a sample of typically developing children (10 males and 9 females; mean age of 5.2 years old; sd = 0.78) while they watch the Inscapes movie designed for neuroimaging acquisition. A node in the left dorsal prefrontal cortex presented similar responses across children, and those fNIRS responses were in line with scene transitions in the movie stimulus. Our results suggest the feasibility of applying centrality graph-based measures to investigate brain function in naturalistic fNIRS during development.

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