RESUMEN
Residential care facilities (RCFs) are places where older people live and usually die. This exploratory qualitative study aims to describe the experiences and practices of the directors of Portuguese RCFs regarding residents' end of life and death. Data were obtained from 17 care facility directors (CFDs) who participated in three focus groups. Thematic data analysis was performed. The CFDs described their practices and experiences framed within three moments in the life journey of the residents in RCFs: admission and living in RCF; end of life and death; postmortem and new admission - continuing and occupying the vacancy. The results suggest that end of life and death are only addressed in the last days/hours of life of the resident. However, the CFDs' approach throughout the stay of the residents in the RCF could allow for the expression of their wishes and wills, which could facilitate a good and dignified death.
RESUMEN
BACKGROUND AND OBJECTIVES: Gene-gene interactions likely contribute to the etiology of multifactorial diseases such as cerebral venous thrombosis (CVT) and could be one of the main sources of known missing heritability. We explored Factor XI (F11) and ABO gene interactions among patients with CVT. METHODS: Patients with CVT of European ancestry from the large Bio-Repository to Establish the Aetiology of Sinovenous Thrombosis (BEAST) international collaboration were recruited. Codominant modelling was used to determine interactions between genome-wide identified F11 and ABO genes with CVT status. RESULTS: We studied 882 patients with CVT and 1,205 ethnically matched control participants (age: 42 ± 15 vs 43 ± 12 years, p = 0.08: sex: 71% male vs 68% female, p = 0.09, respectively). Individuals heterozygous (AT) for the risk allele (T) at both loci (rs56810541/F11 and rs8176645/ABO) had a 3.9 (95% CI 2.74-5.71, p = 2.75e-13) increase in risk of CVT. Individuals homozygous (TT) for the risk allele at both loci had a 13.9 (95% CI 7.64-26.17, p = 2.0e-15) increase in risk of CVT. The presence of a non-O blood group (A, B, AB) combined with TT/rs56810541/F11 increased CVT risk by OR = 6.8 (95% CI 4.54-10.33, p = 2.00e15), compared with blood group-O combined with AA. DISCUSSION: Interactions between factor XI and ABO genes increase risk of CVT by 4- to 14-fold.
Asunto(s)
Sistema del Grupo Sanguíneo ABO , Factor XI , Trombosis de la Vena , Adulto , Femenino , Humanos , Masculino , Persona de Mediana Edad , Sistema del Grupo Sanguíneo ABO/genética , Epistasis Genética/genética , Factor XI/genética , Galactosiltransferasas , Predisposición Genética a la Enfermedad/genética , Trombosis Intracraneal/genética , Polimorfismo de Nucleótido Simple , Trombosis de la Vena/genéticaRESUMEN
Rheumatoid arthritis (RA) is a complex illness with both hereditary and environmental components. Globally, in 2019, 18 million people had RA. RA is characterized by persistent inflammation of the synovial membrane that lines the joints, cartilage loss, and bone erosion. Phenolic molecules are the most prevalent secondary metabolites in plants, with a diverse spectrum of biological actions that benefit functional meals and nutraceuticals. These compounds have received a lot of attention recently because they have antioxidant, anti-inflammatory, immunomodulatory, and anti-rheumatoid activity by modulating tumor necrosis factor, mitogen-activated protein kinase, nuclear factor kappa-light-chain-enhancer of activated B cells, and c-Jun N-terminal kinases, as well as other preventative properties. This article discusses dietary polyphenols, their pharmacological properties, and innovative delivery technologies for the treatment of RA, with a focus on their possible biological activities. Nonetheless, commercialization of polyphenols may be achievable only after confirming their safety profile and completing successful clinical trials.
RESUMEN
PURPOSE: This study aimed to determine the association of first-trimester maternal serum biomarkers with preterm birth (PTB), fetal growth restriction (FGR) and hypertensive disorders of pregnancy (HDP) in twin pregnancies. METHODS: This is a retrospective cohort study of twin pregnancies followed at Maternidade Dr. Alfredo da Costa, Lisbon, Portugal, between January 2010 and December 2022. We included women who completed first-trimester screening in our unit and had ongoing pregnancies with two live fetuses, and delivered after 24 weeks. Maternal characteristics, pregnancy-associated plasma protein-A (PAPP-A) and ß-human chorionic gonadotropin (ß-hCG) levels were analyzed for different outcomes: small for gestational age (SGA), gestational hypertension (GH), early and late-onset pre-eclampsia (PE), as well as the composite outcome of PTB associated with FGR and/or HDP. Univariable, multivariable logistic regression analyses and receiver-operating characteristic curve were used. RESULTS: 466 twin pregnancies met the inclusion criteria. Overall, 185 (39.7%) pregnancies were affected by SGA < 5th percentile and/or HDP. PAPP-A demonstrated a linear association with gestational age at birth and mean birth weight. PAPP-A proved to be an independent risk factor for SGA and PTB (< 34 and < 36 weeks) related to FGR and/or HDP. None of the women with PAPP-A MoM > 90th percentile developed early-onset PE or PTB < 34 weeks. CONCLUSION: A high serum PAPP-A (> 90th percentile) ruled out early-onset PE and PTB < 34 weeks. Unless other major risk factors for hypertensive disorders are present, these women should not be considered candidates for aspirin prophylaxis. Nevertheless, close monitoring of all TwP for adverse obstetric outcomes is still recommended.
Asunto(s)
Biomarcadores , Gonadotropina Coriónica Humana de Subunidad beta , Retardo del Crecimiento Fetal , Hipertensión Inducida en el Embarazo , Primer Trimestre del Embarazo , Embarazo Gemelar , Proteína Plasmática A Asociada al Embarazo , Nacimiento Prematuro , Humanos , Femenino , Embarazo , Embarazo Gemelar/sangre , Adulto , Estudios Retrospectivos , Primer Trimestre del Embarazo/sangre , Biomarcadores/sangre , Retardo del Crecimiento Fetal/sangre , Proteína Plasmática A Asociada al Embarazo/análisis , Proteína Plasmática A Asociada al Embarazo/metabolismo , Nacimiento Prematuro/sangre , Nacimiento Prematuro/epidemiología , Gonadotropina Coriónica Humana de Subunidad beta/sangre , Hipertensión Inducida en el Embarazo/sangre , Hipertensión Inducida en el Embarazo/epidemiología , Recién Nacido Pequeño para la Edad Gestacional , Preeclampsia/sangre , Preeclampsia/diagnóstico , Preeclampsia/epidemiología , Resultado del Embarazo , Recién Nacido , Estudios de Cohortes , Portugal/epidemiología , Edad GestacionalRESUMEN
BACKGROUND AND PURPOSE: Coma is an independent predictor of poor clinical outcomes in cerebral venous thrombosis (CVT). We aimed to describe the association of age, sex, and radiological characteristics of adult coma patients with CVT. METHODS: We used data from the international, multicentre prospective observational BEAST (Biorepository to Establish the Aetiology of Sinovenous Thrombosis) study. Only positively associated variables with coma with <10% missing data in univariate analysis were considered for the multivariate logistic regression model. RESULTS: Of the 596 adult patients with CVT (75.7% women), 53 (8.9%) patients suffered coma. Despite being a female-predominant disease, the prevalence of coma was higher among men than women (13.1% vs. 7.5%, p = 0.04). Transverse sinus thrombosis was least likely to be associated with coma (23.9% vs. 73.3%, p < 0.001). The prevalence of superior sagittal sinus thrombosis was higher among men than women in the coma sample (73.6% vs. 37.5%, p = 0.01). Men were significantly older than women, with a median (interquartile range) age of 51 (38.5-60) versus 40 (33-47) years in the coma (p = 0.04) and 44.5 (34-58) versus 37 (29-48) years in the non-coma sample (p < 0.001), respectively. Furthermore, an age- and superior sagittal sinus-adjusted multivariate logistic regression model found male sex (odds ratio = 1.8, 95% confidence interval [CI] = 1.0-3.4, p = 0.04) to be an independent predictor of coma in CVT, with an area under the receiver operating characteristic curve of 0.61 (95% CI = 0.52-0.68, p = 0.01). CONCLUSIONS: Although CVT is a female-predominant disease, men were older and nearly twice as likely to suffer from coma than women.
Asunto(s)
Coma , Humanos , Masculino , Femenino , Coma/etiología , Coma/epidemiología , Adulto , Persona de Mediana Edad , Trombosis Intracraneal/epidemiología , Trombosis Intracraneal/complicaciones , Estudios Prospectivos , Trombosis de la Vena/epidemiología , Trombosis de la Vena/complicaciones , Trombosis de los Senos Intracraneales/epidemiología , Trombosis de los Senos Intracraneales/complicaciones , Factores Sexuales , Factores de Edad , PrevalenciaRESUMEN
Background: Cerebral venous thrombosis (CVT) is an uncommon cause of stroke in young adults. We aimed to determine the impact of age, gender and risk factors (including sex-specific) on CVT onset. Methods: We used data from the BEAST (Biorepository to Establish the Aetiology of Sinovenous Thrombosis), a multicentre multinational prospective observational study on CVT. Composite factors analysis (CFA) was performed to determine the impact on the age of CVT onset in males and females. Results: A total of 1309 CVT patients (75.3% females) aged ⩾18 years were recruited. The overall median (IQR-interquartile range) age for males and females was 46 (35-58) years and 37 (28-47) years (p < 0.001), respectively. However, the presence of antibiotic-requiring sepsis (p = 0.03, 95% CI 27-47 years) among males and gender-specific risk factors like pregnancy (p < 0.001, 95% CI 29-34 years), puerperium (p < 0.001, 95% CI 26-34 years) and oral contraceptive use (p < 0.001, 95% CI 33-36 years) were significantly associated with earlier onset of CVT among females. CFA demonstrated a significantly earlier onset of CVT in females, ~12 years younger, in those with multiple (⩾1) compared to '0' risk factors (p < 0.001, 95% CI 32-35 years). Conclusions: Women suffer CVT 9 years earlier in comparison to men. Female patients with multiple (⩾1) risk factors suffer CVT ~12 years earlier compared to those with no identifiable risk factors.
Asunto(s)
Trombosis Intracraneal , Trombosis de la Vena , Masculino , Embarazo , Adulto Joven , Humanos , Femenino , Anciano , Persona de Mediana Edad , Trombosis de la Vena/epidemiología , Edad de Inicio , Trombosis Intracraneal/epidemiología , Factores de RiesgoRESUMEN
Caffeine is a psychoactive substance used worldwide. The present study analyzes the seizure-related behavior and electrocorticographic (ECoG) patterns observed in rats following of a toxic dose of caffeine (150 mg/kg; intraperitoneal). Sixty-three rats were divided into three experiments: 1-Behavior's Description associated with caffeine-induced convulsion; 2- Comparison of the electrocorticographic patterns induced by caffeine and pentylenetetrazole, and 3- Assessment of the electrocorticographic response to antiepileptic drugs (diazepam, phenytoin, and phenobarbital). The behavioral analysis demonstrated tonic-clonic seizures with a loss of postural reflex and a latency of 365.8 s after the caffeine's administration. Caffeine-induced changes in the ECoG were consistent with the development of seizures with rapid evolution and burst potential consistent with the behavioral patterns observed during the caffeine-induced seizure. The ECoG of the brainwaves varied significantly between the seizures caused by caffeine and pentylenetetrazole. The predominant brain forces observed during the seizures were beta-band oscillations. The caffeine-induced seizures were resistant to attempted control with phenytoin and phenobarbital, but responded well to diazepam, which is consistent with a study of Pilocarpine, which showed that diazepam has anticonvulsant effects. These findings are important for the development of effective treatments for caffeine intoxication, in particular for individuals with a low seizure threshold.
Asunto(s)
Pentilenotetrazol , Fenitoína , Ratas , Animales , Pentilenotetrazol/toxicidad , Fenitoína/farmacología , Ratas Wistar , Cafeína/toxicidad , Anticonvulsivantes/toxicidad , Convulsiones/inducido químicamente , Diazepam/efectos adversos , FenobarbitalRESUMEN
Purpose: To evaluate antimalarial with or without anticoagulant treatment, in patients with recent SARS-COV-2 infection. Methods: Clinical study carried out at Samuel Libânio Clinic Hospital, University of Vale do Sapucaí, Pouso Alegre-MG. Approved by the Ethics Committee (4.034.077) and registered in the Clinical Trials (NCT04788355). Suspected patients for COVID-19 were included in the emergency room. The groups were: C (control) with 6 patients, A (anticoagulant apixaban) with 9 patients, H (hydroxychloroquine) with 5 patients and HA (hydroxychloroquine and anticoagulant apixaban) with 8 patients. Results: there were no significant differences between groups. The HA group, in which there was an intervention with two drugs, presented a greater number of days with symptoms (p = 0.037) and worse results, when compared to the control: most relevant symptoms, were: cough (p = 0.001), and anosmia / ageusia (p = 0.011) headache (p = 0.001). Conclusion: The present study began when there were doubts about the use of drugs such as Hydroxychloroquine (HCQ) and apixaban (APX). The reduced "n" was defined through bureaucratic and polemic issues independent of the authors' actions. No clinical benefit was associated with HCQ and APX. There was an increase in the number of symptomatic days when HCQ and APX were administered. Despite the limitations, there was no therapeutic indication of the evaluated drugs. [au]
Objetivo: Avaliar antimalárico com ou sem tratamento anticoagulante, em pacientes com infecção recente por SARS-COV-2. Métodos: Estudo clínico realizado no Hospital das Clínicas Samuel Libânio da Universidade do Vale do Sapucaí, Pouso Alegre-MG. Aprovado pelo Comitê de Ética (4.034.077) e registrado nos Ensaios Clínicos (NCT04788355). Pacientes suspeitos de COVID-19 foram incluídos na sala de emergência. Os grupos foram: C (controle) com 6 pacientes, A (anticoagulante apixabana) com 9 pacientes, H (hidroxicloroquina) com 5 pacientes e HA (hidroxicloroquina e anticoagulante apixabana) com 8 pacientes. Resultados: não houve diferenças significativas entre os grupos. O grupo HA, no qual houve intervenção com dois medicamentos, apresentou maior número de dias com sintomas (p = 0,037) e piores resultados, quando comparado ao controle: os sintomas mais relevantes foram: tosse (p = 0,001), e anosmia/ageusia (p = 0,011) cefaléia (p = 0,001). Conclusão: O presente estudo teve início quando havia dúvidas sobre o uso de medicamentos como hidroxicloroquina (HCQ) e apixabana (APX). O "n" reduzido foi definido por meio de questões burocráticas e polêmicas independentes das ações dos autores. Nenhum benefício clínico foi associado com HCQ e APX. Houve um aumento no número de dias sintomáticos quando HCQ e APX foram administrados. Apesar das limitações, não houve indicação terapêutica dos medicamentos avaliados. [au]
RESUMEN
A 74-year-old man visited his family doctor for dysphagia and was diagnosed with esophageal candidiasis. His risk factors included type 2 diabetes mellitus, long-term intake of budesonide/formoterol inhaler 160/45 µg, and pantoprazole 20 mg. He was treated with fluconazole 200 mg per day for 14 days. Other factors of immunosuppression were excluded, and his chronic medication was adapted by starting him with a proton pump inhibitor withdrawal plan and switching his inhaled device to a formoterol-only device without an inhaled corticosteroid. The patient had complete remission of the symptoms on the seventh day of treatment without relapse to date. The key point is that iatrogenic factors should be considered in the presence of esophageal candidiasis in immunocompetent patients and a therapeutic review is an important tool that should be used in every primary care appointment to refrain from long-term prescriptions without clinical indication and, consequently, to avoid adverse events.
Asunto(s)
Dermatomiositis , Dermatomiositis/complicaciones , Humanos , Músculos , Extremidad SuperiorRESUMEN
INTRODUCTION: Pediatric cerebral sinus venous thrombosis (CSVT) is a rare entity. Risk factors differ from the adults, and treatment is not consensual. With this work, we aimed to characterize a pediatric cohort from two Portuguese tertiary centers. METHODS: All patients under 18 years old with confirmed CSVT admitted between 2006 and 2019 were retrospectively included. Demographics, clinical presentation, workup, and follow-up were evaluated. RESULTS: Fifty-three patients were included, 29 were male (54.7%). Median age was 5 years (IQR 11.08, range 0-17 years old). Headache, seizures and impairment of consciousness were the most frequent manifestations. A risk factor was identified in 90.6% (n = 48), mostly infections (43.8%; n = 21). CNS complications were comprised of hemorrhage, venous infarction, hydrocephalus and edema. Treatment included anticoagulation in 36 patients (67.9%), and there were no recurrences on follow-up. Prognosis was favorable, with most patients presenting no or only slight disability comparing to same age and sex children, on the follow-up. DISCUSSION: In this cohort, impairment of consciousness was the most frequent clinical presentation and infections were the most frequent risk factors. The outcome was mainly favorable, with most patients presenting none or mild disability and without recurrences on follow-up. Studies are needed to define the criteria for anticoagulation and its recommended duration in children.
Asunto(s)
Trombosis Intracraneal , Trombosis de los Senos Intracraneales , Trombosis de la Vena , Adolescente , Adulto , Anticoagulantes/uso terapéutico , Niño , Preescolar , Femenino , Humanos , Lactante , Recién Nacido , Trombosis Intracraneal/complicaciones , Masculino , Portugal/epidemiología , Estudios Retrospectivos , Factores de Riesgo , Trombosis de los Senos Intracraneales/complicaciones , Trombosis de la Vena/complicacionesRESUMEN
The relationship between migraine and vision is complex. Besides migraine aura status and persistent visual aura without infarction, recognized by International Headaches Classification 3, cases of persistent monocular alterations have been described in migraineurs. To discuss the role of migraine as a risk factor for persistent monocular visual loss. We present five new cases of persistent monocular visual loss in migraineurs, discuss the differential diagnosis and possible relationship with migraine. Five young healthy patients are reported (three women) with a history of migraine (four with visual aura), that developed persistent monocular visual defects, four during an episode of migraine with aura. All patients were submitted to an extensive investigation. In three patients the scotoma was identified on automated perimetry; one of these patients had retinal hemorrhagic lesions, with fluorescein angiography revealing an isolated retinal vasculitis. In two patients fundoscopy revealed transient cotton wools spots. Except for the patient with retinal vasculitis, etiologic investigation was not conclusive. Monocular visual loss can occur in the setting of multiple pathologies that affect the eye and related structures. Although diseases requiring emergent intervention should always be excluded, we propose migraine should be considered as a contributing factor for unexplained monocular persistent scotoma.Monocular visual loss can occur in the setting of multiple pathologies that affect the eye and related structures. Although diseases requiring emergent intervention should always be excluded, we propose migraine should be considered as a contributing factor for unexplained monocular persistent scotoma.
Asunto(s)
Epilepsia , Trastornos Migrañosos , Migraña con Aura , Vasculitis Retiniana , Femenino , Humanos , Trastornos Migrañosos/complicaciones , Trastornos Migrañosos/diagnóstico , Migraña con Aura/complicaciones , Migraña con Aura/diagnóstico por imagen , Escotoma/etiología , Trastornos de la VisiónRESUMEN
RESUMO Objetivo: compreender o conhecimento e adesão dos profissionais de enfermagem à posição canguru e investigar o conhecimento dos profissionais sobre a posição e seus benefícios. Métodos: pesquisa qualitativa realizada com 15 profissionais de enfermagem da neonatologia de um hospital terciário. Os dados foram coletados no período de agosto a setembro de 2020, utilizando instrumento desenvolvido pelos autores, e analisados pelo software Interface de R pour les Analyses Multimensionnelles de Textes et de Questionnaire. Resultados: todas as técnicas de enfermagem afirmaram colocar o recém-nascido em posição canguru. Já em relação às enfermeiras, uma afirma não realizar a posição. O conteúdo analisado foi categorizado em três classes: Classe 1) Vivências da equipe de enfermagem em realizar ou não a posição canguru; Classe 2) Importância da aplicação da posição canguru; e Classe 3) Barreiras vivenciadas em realizar a posição canguru. Considerações finais: evidenciou-se uma boa adesão dos profissionais à posição canguru, entretanto, relatam dificuldades para executar a técnica, como a inadequação da rotina, falta de incentivo institucional e treinamentos.
RESUMEN Objetivo: comprender el conocimiento y la adhesión de los profesionales de enfermería a la posición canguro e investigar el conocimiento de los profesionales sobre la posición y sus beneficios. Métodos: investigación cualitativa realizada con 15 profesionales de enfermería de la neonatología de un hospital terciario. Los datos fueron recolectados en el período de agosto a septiembre de 2020, utilizando instrumento desarrollado por los autores, y analizados por el software Interfaz de R pour les Analyses Multimensionnelles de Textes et de Questionnaire. Resultados: todas las técnicas de enfermería afirmaron colocar al recién nacido en posición canguro. En cuanto a las enfermeras, una afirma no realizar la posición. El contenido analizado fue categorizado en tres clases: Clase 1) Vivencias del equipo de enfermería al realizar o no la posición canguro; Clase 2) Importancia de la aplicación de la posición canguro; y Clase 3) Dificultades experimentadas al realizar la posición canguro. Consideraciones finales: se evidenció una buena adhesión de los profesionales a la posición canguro, sin embargo, relatan dificultades para ejecutar la técnica, como la inadecuación de la rutina, falta de incentivo institucional y entrenamientos.
ABSTRACT Objective: to understand the knowledge and adherence of nursing professionals to the kangaroo position and to investigate the knowledge of professionals about the position and its benefits. Methods: qualitative research conducted with 15 neonatology nursing professionals from a tertiary hospital. Data were collected from August to September 2020, using an instrument developed by the authors, and analyzed by the software Interface de R pour les Analyses Multimensionnelles de Textes et de Questionnaire. Results: all nursing techniques claimed to place the newborn in a kangaroo position. Regarding the nurses, one claims not to perform the position. The analyzed content was categorized into three classes: Class 1) Experiences of the nursing team in performing or not the kangaroo position; Class 2) Importance of applying the kangaroo position; and Class 3) Barriers experienced in performing the kangaroo position. Final thoughts: there was a good adherence of professionals to the kangaroo position, however, they report difficulties to perform the technique, such as inadequate routine, lack of institutional incentive and training.
Asunto(s)
Humanos , Masculino , Femenino , Recién Nacido , Lactante , Unidades de Cuidado Intensivo Neonatal , Método Madre-Canguro , Padres , Recién Nacido , Recien Nacido Prematuro , Humanización de la AtenciónRESUMEN
This prospective multicentric study aiming to determine the incidence of complications (malignant transformation, torsion or rupture) during conservative management of adnexal masses was performed in two Portuguese tertiary referral hospitals. It included ≥18-year-old, non-pregnant patients with asymptomatic adnexal masses (associated IOTA ADNEX risk of malignancy < 10%) sonographically diagnosed between January 2016 and December 2020. Conservative patient management consisted of serial clinical and ultrasound assessment up to 60 months of follow-up, spontaneous resolution of the formation or surgical excision (median follow-up: 17.8; range 9-48 months). From the 573 masses monitored (328 premenopausal and 245 postmenopausal adnexal masses), no complications were observed in 99.5%. The annual lesion growth rates and increases in morphological complexity were similar in the premenopausal and postmenopausal patients. Spontaneous resolution, evidenced in 16.4% of the patients, was more common in the premenopausal group (p < 0.05). Surgical intervention was performed in 18.4% of the cases; one borderline and one invasive FIGO IA stage cancer were diagnosed. There was an isolated case of ovary torsion (0.17%). These data support conservative management as a safe option for sonographically benign, stable and asymptomatic adnexal masses before and after menopause and highlight the need for expedite treatment of symptomatic or increased-morphological-complexity lesions.
RESUMEN
OBJECTIVE: Cerebral venous thrombosis (CVT) is an uncommon form of stroke affecting mostly young individuals. Although genetic factors are thought to play a role in this cerebrovascular condition, its genetic etiology is not well understood. METHODS: A genome-wide association study was performed to identify genetic variants influencing susceptibility to CVT. A 2-stage genome-wide study was undertaken in 882 Europeans diagnosed with CVT and 1,205 ethnicity-matched control subjects divided into discovery and independent replication datasets. RESULTS: In the overall case-control cohort, we identified highly significant associations with 37 single nucleotide polymorphisms (SNPs) within the 9q34.2 region. The strongest association was with rs8176645 (combined p = 9.15 × 10-24 ; odds ratio [OR] = 2.01, 95% confidence interval [CI] = 1.76-2.31). The discovery set findings were validated across an independent European cohort. Genetic risk score for this 9q34.2 region increases CVT risk by a pooled estimate OR = 2.65 (95% CI = 2.21-3.20, p = 2.00 × 10-16 ). SNPs within this region were in strong linkage disequilibrium (LD) with coding regions of the ABO gene. The ABO blood group was determined using allele combination of SNPs rs8176746 and rs8176645. Blood groups A, B, or AB, were at 2.85 times (95% CI = 2.32-3.52, p = 2.00 × 10-16 ) increased risk of CVT compared with individuals with blood group O. INTERPRETATION: We present the first chromosomal region to robustly associate with a genetic susceptibility to CVT. This region more than doubles the likelihood of CVT, a risk greater than any previously identified thrombophilia genetic risk marker. That the identified variant is in strong LD with the coding region of the ABO gene with differences in blood group prevalence provides important new insights into the pathophysiology of CVT. ANN NEUROL 2021;90:777-788.
Asunto(s)
Predisposición Genética a la Enfermedad/genética , Estudio de Asociación del Genoma Completo , Trombosis Intracraneal/genética , Trombosis de la Vena/genética , Adulto , Humanos , Masculino , Persona de Mediana Edad , Factores de Riesgo , Trombofilia/genéticaRESUMEN
INTRODUCTION: Radiologically isolated syndrome (RIS) refers to the incidental discovery of white matter lesions suggestive of MS, on brain MRI, in asymptomatic patients. Recent studies suggest similar features of cognitive impairment between RIS and MS patients. Also, lower levels of health-related quality of life (QOL) and fatigue are reported in such patients. AIMS: characterize and compare the cognitive profile of a multicentric Portuguese cohort of RIS patients with a control group. METHODS: multicentric comparative study of a cohort of adult patients with RIS, and age and gender-matched controls followed in the headache outpatient clinic with prior MRI not fulfilling criteria for RIS diagnosis. We conducted interviews with participants, collected clinical data and applied the BICAMS battery and self-reported questionnaires (HADS, MFIS, MSQOL-54). RESULTS: we evaluated 31 patients with RIS (median age 46 years, IQR [(Dusankova et al., 2012-52], 72% women) and 19 control individuals (median age 32 years, IQR [(O'Jile et al., 2005-48], 71% women). Prevalence of cognitive impairment did not differ between groups (16% of the RIS and 10% of the controls, p=0.579). We found no differences between groups on the BICAMS tests, although the results of the California Verbal Learning Test (CVLT-II) score presented a trend to significance, with a lower value on the RIS group (53.9 vs. 59.3, p=0.066). There were no significant differences regarding fatigue, QOL, anxiety/depression scores. CONCLUSION: this is the first study on a Portuguese cohort of RIS patients assessing cognitive profile with BICAMS. A non-neglectable part of our cohort presented cognitive impairment. Our findings add to previous studies in suggesting that a more pronounced impairment of verbal memory and learning, evaluated by CVLT-II, may be present in RIS patients compared to controls. BICAMS should be assessed on future studies with larger cohorts.
Asunto(s)
Esclerosis Múltiple , Calidad de Vida , Adulto , Estudios de Casos y Controles , Cognición , Femenino , Humanos , Masculino , Persona de Mediana Edad , Pruebas Neuropsicológicas , Portugal/epidemiologíaRESUMEN
Posterior reversible encephalopathy syndrome (PRES) is a neurological syndrome manifesting with acute focal signs, and concomitant neuroimaging findings of vasogenic oedema. It affects the parieto-occipital regions in a vast majority of cases, although atypical variants have been described comprising the brainstem, basal ganglia or spinal cord. We report the case of a 41-year-old woman, admitted for persistent headache and inferior altitudinal field defect in the right eye. She presented with severe, non-medicated, hypertension. Brain MRI showed findings compatible with atypical PRES, involving the brainstem and optic pathways. With antihypertensive therapy the headache remitted, although visual field remained and was interpreted in the context of a vascular aetiology-non-arteritic anterior ischaemic optic neuropathy. MRI was repeated 3 weeks later and showed almost complete reversal of the previous changes.
Asunto(s)
Tronco Encefálico/diagnóstico por imagen , Tracto Óptico/diagnóstico por imagen , Síndrome de Leucoencefalopatía Posterior/complicaciones , Síndrome de Leucoencefalopatía Posterior/diagnóstico , Adulto , Femenino , Humanos , Imagen por Resonancia Magnética , Síndrome de Leucoencefalopatía Posterior/terapiaRESUMEN
De novo absence status is clinically characterized by a confusional syndrome and neurophysiologically by the presence of periodic spike/polyspike-and-wave discharges on EEG. The treatment should be started promptly, and fast recovery is usually seen. However, cognitive symptoms can be very difficult to detect, and no consensus exists on how cognitive improvement can be clinically monitored. We report a patient with absence status epilepticus, whose therapeutic response was monitored neurophysiologically with EEG and clinically with a cognitive test; the Montreal Cognitive Assessment (MoCA). Based on this case report, we describe the use of the MoCA for monitoring cognitive function in a patient with absence status epilepticus. MoCA was evaluated on three occasions, with a total score ranging from 9, before treatment, to 23, when an EEG with no epileptiform discharges was obtained. We suggest that MoCA may be a useful tool to monitor cognitive improvement in absence status epilepticus.
Asunto(s)
Disfunción Cognitiva/diagnóstico , Estado Epiléptico/diagnóstico , Anciano , Disfunción Cognitiva/etiología , Disfunción Cognitiva/fisiopatología , Electroencefalografía , Humanos , Masculino , Pruebas de Estado Mental y Demencia , Estado Epiléptico/complicaciones , Estado Epiléptico/fisiopatologíaRESUMEN
Objectives: We conducted a retrospective, observational, case-control type study to define the clinical and epidemiological characteristics and factors associated with death in the intensive care of these patients. Methodology: We reviewed the medical records and examinations of 72 patients with confirmed diagnosis of SARS-CoV-2 infection in our intensive care unit (ICU). Results: In the review, 20 patients died during hospitalization, and 52 were discharged from the ICU. Associated with mortality, we verified, after analysis, that age, male gender, smoking, tropononin levels, creatinine, lymphocytes, bilirubin, and respiratory compliance were statistically significant. SOFA, APACHE 2, and SAPS 2 scores were good predictors of ICU mortality in this population. Conclusion: Despite several limitations, our study was able to demonstrate a series of clinical and laboratory factors associated with ICU death by COVID-19, compatible with international and multicenter case series.
Objetivo: Realizamos um estudo retrospectivo, observacional, tipo caso-controle com o objetivo de definir as características clínicas, epidemiológicas e fatores associados à morte em terapia intensiva desses pacientes. Metodologia: Revisamos os prontuários e exames de 72 pacientes com diagnóstico confirmado de infecção por SARS-CoV-2 em nossa unidade de terapia intensiva (UTI), realizando uma análise de fatores associados a óbito em terapia intensiva em nossa população. Resultados: Em nosso centro, 20 pacientes morreram durante o internamento, e 52 tiveram alta da UTI. Associado à mortalidade, verificamos, após análise, que idade, sexo masculino, tabagismo, níveis de tropononina, creatinina, linfócitos, bilirrubinas e complacência respiratória tiveram significância estatística. Os escores SOFA, APACHE 3 e SAPS 2 foram bons preditores de mortalidade em UTI nessa população em nosso meio. Conclusão: Apesar das várias limitações, nosso estudo conseguiu demostrar uma série de fatores clínicos e laboratoriais associados a óbito em UTI por COVID-19, compatível com séries de casos internacionais e multicêntricas.