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OTJR (Thorofare N J) ; 44(1): 78-87, 2024 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-36748712


Poststroke anxiety and depressive symptoms (P-SADS) affect one in three people and are associated with decreased participation in activities of daily living. This study sought to characterize occupational therapy (OT) P-SADS care practices and identify factors influencing P-SADS care provision in one U.S. inpatient rehabilitation (IRF) facility. An explanatory sequential mixed-methods study design was used by gathering data from electronic health records (from January 1, 2019 to December 31, 2019) as well as semi-structured interviews with OT practitioners in the IRF. No objective P-SADS screens were documented nor were any P-SADS-focused goals written. Minimal evidence-based P-SADS interventions were identified. Practitioners reported multi-level barriers to OT P-SADS care including limited time, pressure to prioritize physical recovery, and inadequate resources to guide practice. OT practitioner P-SADS care was inconsistent with established evidence-based practice. This research identifies gaps in comprehensive stroke recovery and informs implementation efforts to support evidence-based P-SADS care in IRFs.

Terapia Ocupacional , Reabilitação do Acidente Vascular Cerebral , Humanos , Atividades Cotidianas , Reabilitação do Acidente Vascular Cerebral/métodos , Depressão , Pacientes Internados , Ansiedade
Patient Educ Couns ; 118: 108024, 2024 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-37862876


OBJECTIVE: Preliminary effectiveness test of a novel structured personalized discharge teaching intervention for multimorbid inpatients. METHODS: Using a 2-group sequential pre/post-intervention design, the sample comprised 68 pre-intervention control group and 70 post- intervention group participants. The discharge teaching intervention by trained clinical nurses used structured tools to engage patients and individualize discharge teaching. Outcomes measures included Patient Activation Measure, Readiness for Hospital Discharge Scale, Discharge Care Experiences Survey, and readmission with 10 days post-discharge. RESULTS: The intervention had a statistically significant positive effect on improving patient activation (M=4.8; p = 0.05) from admission to post-discharge. The participation subscale of the Discharge Care Experiences Survey was higher in the intervention (M=4.1, SD=0.7) than the control group (M=3.8, SD=0.7; t (127)= -2.79, p = .01, effect size= .34). There were no significant between-group differences in Readiness for Hospital Discharge Scale and readmission. CONCLUSIONS: Our results suggest that a structured personalized discharge teaching intervention can improve patient activation and participation in discharge care. Further refinement of the intervention is needed to evaluate and improve specific components of the intervention. PRACTICE IMPLICATIONS: Structured personalized discharge teaching should include patient engagement strategies in the teaching-learning process.

Alta do Paciente , Participação do Paciente , Humanos , Pacientes Internados , Assistência ao Convalescente , Hospitalização
Comput Methods Programs Biomed ; 243: 107876, 2024 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-37875036


BACKGROUND AND OBJECTIVE: Currently, COVID-19 is a highly infectious disease that can be clinically diagnosed based on diagnostic radiology. Deep learning is capable of mining the rich information implied in inpatient imaging data and accomplishing the classification of different stages of the disease process. However, a large amount of training data is essential to train an excellent deep-learning model. Unfortunately, due to factors such as privacy and labeling difficulties, annotated data for COVID-19 is extremely scarce, which encourages us to propose a more effective deep learning model that can effectively assist specialist physicians in COVID-19 diagnosis. METHODS: In this study,we introduce Masked Autoencoder (MAE) for pre-training and fine-tuning directly on small-scale target datasets. Based on this, we propose Self-Supervised Learning with Self-Distillation on COVID-19 medical image classification (SSSD-COVID). In addition to the reconstruction loss computation on the masked image patches, SSSD-COVID further performs self-distillation loss calculations on the latent representation of the encoder and decoder outputs. The additional loss calculation can transfer the knowledge from the global attention of the decoder to the encoder which acquires only local attention. RESULTS: Our model achieves 97.78 % recognition accuracy on the SARS-COV-CT dataset containing 2481 images and is further validated on the COVID-CT dataset containing 746 images, which achieves 81.76 % recognition accuracy. Further introduction of external knowledge resulted in experimental accuracies of 99.6% and 95.27 % on these two datasets, respectively. CONCLUSIONS: SSSD-COVID can obtain good results on the target dataset alone, and when external information is introduced, the performance of the model can be further improved to significantly outperform other models.Overall, the experimental results show that our method can effectively mine COVID-19 features from rare data and can assist professional physicians in decision-making to improve the efficiency of COVID-19 disease detection.

COVID-19 , Médicos , Humanos , COVID-19/diagnóstico por imagem , Teste para COVID-19 , Pacientes Internados , Aprendizado de Máquina Supervisionado
Clin Rehabil ; 38(1): 119-129, 2024 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-37644886


OBJECTIVES: To evaluate the physical and functional outcomes of the 'Ending Pyjama Paralysis' intervention in an inpatient geriatric rehabilitation unit. DESIGN: Quasi-experimental mixed-methods design nested within the 'REStORing health of acutely unwell adulTs' (RESORT) prospective, observational, longitudinal cohort of geriatric rehabilitation inpatients study. SETTING: Geriatric rehabilitation wards in a major metropolitan public hospital between June 2019 and March 2020. INTERVENTION: The 'Ending Pyjama Paralysis' movement originated in the UK. Its aim was to encourage patients to 'Get up, Get dressed and Get moving' to reduce hospital-associated functional decline. However, the physical and functional benefits of this campaign have not yet been evaluated. The 'Ending Pyjama Paralysis' was adopted as an integrated intervention on two out of four geriatric rehabilitation wards. The two control wards received usual care. MAIN MEASURES: Physical measures included the Short Physical Performance Battery, and functional measures included the Katz Index of Independence in Activities of Daily Living and Lawton and Brody's Instrumental Activities of Daily Living, which were completed on admission and discharge. A linear mixed-effects model was used to analyse the results. RESULTS: A total of 833 admissions were included in this study. Of these, 512 patients were in the control group, and 321 were in the intervention group. There were no significant differences in both physical and functional measures between the intervention and control groups. CONCLUSION: The 'Ending Pyjama Paralysis' campaign did not result in enhanced functional or physical benefits in geriatric rehabilitation inpatients in this setting when applied in addition to usual care.

Atividades Cotidianas , Pacientes Internados , Adulto , Humanos , Idoso , Estudos Prospectivos , Hospitalização , Paralisia
Clin Rehabil ; 38(1): 98-108, 2024 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-37743801


OBJECTIVE: The Utrecht Scale for Evaluation of Rehabilitation is a multi-domain measurement with good content validity, structural validity and reliability for measuring physical functioning (mobility, selfcare) and cognitive functioning in geriatric rehabilitation. We aimed to determine the construct validity of both Utrecht Scale for Evaluation of Rehabilitation scales and the responsiveness and interpretability of the scale for physical functioning in geriatric rehabilitation. DESIGN: Prospective follow-up study embedded in routine care. SETTING: Four care organisations in The Netherlands. SUBJECTS: Patients admitted for inpatient geriatric rehabilitation (2021-2022). MAIN MEASURES: Data collection included the Utrecht Scale for Evaluation of Rehabilitation, Mini-Mental State Examination, Barthel index, and a global rating scale anchor on recovery. Hypothesis testing was used to determine construct validity and responsiveness. For interpretability, minimal important change and floor and ceiling effects were determined. RESULTS: The mean age of participants (n = 211) was 77 (SD 10.4). Their mean length of stay was 38.6 days (SD 26.3), and 81% returned home. The Utrecht Scale for Evaluation of Rehabilitation showed adequate construct validity, as all three hypotheses were confirmed for both scales. The Utrecht Scale for Evaluation of Rehabilitation-physical function scale showed adequate responsiveness, with all five hypotheses confirmed. The mean change for physical function (scale range 0-70) was 15.5 points (SD 17.1). The minimal important change for Utrecht Scale for Evaluation of Rehabilitation-physical function was 14.5 points difference for improvement. This scale showed no floor (2%) and ceiling effects (14%) at admission and discharge. CONCLUSIONS: The Utrecht Scale for Evaluation of Rehabilitation showed to be effective for evaluating physical functioning during geriatric rehabilitation as well as screening cognitive functioning. In total, 14.5 points difference has been established as a minimal important change for physical functioning.

Avaliação Geriátrica , Pacientes Internados , Humanos , Idoso , Estudos Prospectivos , Reprodutibilidade dos Testes , Seguimentos
OTJR (Thorofare N J) ; 44(1): 67-77, 2024 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-37264602


This study aimed to explore the barriers to engagement in activity and consumer satisfaction in inpatient settings. Participants were current inpatient consumers and completed an online anonymous survey. This included the Mental Health Satisfaction Improvement Program (MHSIP), Leisure Boredom Scale (LBS), and the Checklist of Leisure Interests and Participation (CLIP). A total of 57 participants partially completed the survey with 41 completed responses. Participants reported several barriers to engagement, including lack of staff, limited social engagement, limited range of activity, and a lack of resources. Most participants reported to be either "very satisfied" (24.24%) or "somewhat satisfied" (36.36%) with the level of activity offered. Participants reported to be bored due to a limited occupational range offered in the mental health inpatient unit. Participants identified the need for assistance in the facilitation of activity.

Pacientes Internados , Saúde Mental , Humanos , Pacientes Internados/psicologia , Inquéritos e Questionários , Satisfação Pessoal , Atividades de Lazer
J Surg Res ; 293: 37-45, 2024 01.
Artigo em Inglês | MEDLINE | ID: mdl-37703702


INTRODUCTION: The American College of Surgeons has developed evidence-based guidelines to triage the care of severely injured children to Level 1 and 2 trauma centers. Undertriage is the treatment of patients at facilities not equipped to treat the patient's injuries appropriately. We sought to evaluate the association between patient and hospital characteristics and secondary undertriage in children after major trauma. METHODS: We performed a retrospective cohort study using the 2019 Nationwide Emergency Department Sample. Patients aged less than 18 y were included if they presented to a Level 3 or nontrauma center (NTC) and were diagnosed with a traumatic injury with an injury severity score >15 based on International Classification of Diseases 10 codes. Our primary outcome was secondary undertriage, defined as inpatient admission to a Level 3 or NTC. We developed generalized linear models with inverse-probability survey weighting to determine the association between patient and hospital characteristics and the primary outcome. RESULTS: Of 6572 weighted patients, 982 (15%) were undertriaged. Undertriage was significantly associated with older age (13 versus 7, P value < 0.001), metropolitan location (86% versus 68%, P < 0.001), and major abdominal injuries (19% versus 11%, P = 0.011). After multivariable adjustment, secondary undertriage was significantly associated with patients aged 6-10 y (adjusted odds ratio [aOR]: 2.47, P = 0.002) compared to patients aged 15-17 y, penetrating injury (aOR: 1.70, P = 0.011), major chest injury (aOR: 2.10, P = 0.014), and presentation at a teaching hospital (aOR: 5.66, P < 0.001). CONCLUSIONS: After major trauma, a significant proportion of children are secondarily undertriaged at teaching NTCs. Level 1 and 2 trauma centers must partner with lower-level trauma centers to ensure children receive equitable care.

Serviço Hospitalar de Emergência , Ferimentos e Lesões , Humanos , Criança , Estados Unidos , Estudos Retrospectivos , Centros de Traumatologia , Triagem , Escala de Gravidade do Ferimento , Hospitais de Ensino , Pacientes Internados , Ferimentos e Lesões/diagnóstico , Ferimentos e Lesões/terapia
J Infect Chemother ; 30(1): 20-28, 2024 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-37689136


BACKGROUND: This study investigated the differences between metropolitan and non-metropolitan areas in the treatment of hospitalized patients with COVID-19 using data from the nationwide COVID-19 Registry Japan (COVIREGI-JP). METHODS: Data of patients hospitalized for COVID-19 during waves 2-4 (June 1, 2020-June 30, 2021) treated in one of the 800 medical institutions participating in the Registry were extracted. Treatment and treatment outcomes were evaluated in inpatients with moderate 2 and severe disease using propensity score matching performed between metropolitan and non-metropolitan areas. RESULTS: A total of 32797 patients were identified during epidemic waves 2-4. After matching (wave 2, n = 307; wave 3, n = 913; wave 4, n = 479), the population comprised mostly elderly patients with a median age of ≥65 years (IQR: 52-81 years) and median SpO2 of 93/94 (IQR: 91%-96%), and the proportion of patients with moderate 2 (SpO2≤93%/require oxygenation) vs severe disease (ICU admission) ranged from 82.7% to 89.8% vs 10.2% to 17.3% in metropolitan areas vs non-metropolitan areas, respectively, across all epidemic waves. Noninvasive mechanical ventilation was used significantly more in waves 2 and 3 and invasive mechanical ventilation in wave 4 in metropolitan vs non-metropolitan areas, compared with other waves. In wave 2, death as an outcome was significantly higher in metropolitan vs non-metropolitan areas compared with patient discharge to home/transfer. CONCLUSION: During the COVID-19 epidemic, starting from wave 2 up until and through wave 4, no clear differences in mortality rates and no regional differences in treatment provision patterns were observed between metropolitan and non-metropolitan areas in Japan.

Tratamento Farmacológico da COVID-19 , COVID-19 , Idoso , Humanos , Pessoa de Meia-Idade , Idoso de 80 Anos ou mais , Japão/epidemiologia , COVID-19/epidemiologia , COVID-19/terapia , Pacientes Internados , Sistema de Registros
Arq. ciências saúde UNIPAR ; 27(2): 653-665, Maio-Ago. 2023.
Artigo em Português | LILACS | ID: biblio-1424872


Objetivo: Avaliar interações medicamentosas (IM), em que os riscos se so- brepõem aos benefícios (nível I) ou os benefícios se sobrepõem aos riscos (nível II); a partir da análise retrospectiva de prescrições médicas em um Hospital Universitário no estado de São Paulo, Brasil. Métodos: Foram analisadas 19762 prescrições médicas des- tinadas à farmácia do hospital, de janeiro a setembro de 2009; com o auxílio de programas sobre IM, para categorizar IM de nível I e II. Resultados: Na análise 26,53% apresentaram IM, em que 23,64% foram classificadas em nível I e 76,35% em nível II. Dentre as IM com maior frequência no nível I, estavam: ácido acetilsalicílico (AAS) e clopidogrel, AAS e heparina, captopril e espironolactona, digoxina e hidroclorotiazida. Houve uma redução em percentual de IM de nível I, comparando janeiro representado por 26,5% e setembro representado por 18,4%. Já nas IM de nível II, tem-se as seguintes associações com maior frequência: AAS e propranolol, AAS e insulina regular humana, AAS e ate- nolol, AAS e enalapril, AAS e carvedilol. Conclusão: A atuação dos farmacêuticos cola- borou à redução de IM de nível I, devido à intervenção por meio de comunicação estabe- lecida com os prescritores; sinalizando a importância da equipe interprofissional em saúde.

Objective: To evaluate drug interactions (MI), in which risks outweigh the benefits (level I) or benefits outweigh the risks (level II); from the retrospective analysis of medical prescriptions in a University Hospital in the state of São Paulo, Brazil. Methods: 19,762 prescriptions destined to the hospital pharmacy were analyzed, from January to September 2009; with the help of programs on MI, to categorize level I and II MI. Results: In the analysis 26.53% presented MI, in which 23.64% were classified in level I and 76.35% in level II. Among the most frequent level I MI were: acetylsalicylic acid (ASA) and clopidogrel, ASA and heparin, captopril and spironolactone, digoxin and hydrochlorothiazide. There was a reduction in the percentage of level I MI, comparing January, which accounted for 26.5%, and September, which accounted for 18.4%. As for level II MI, the following associations were more frequent: ASA and propranolol, ASA and regular human insulin, ASA and atenolol, ASA and enalapril, ASA and carvedilol. Conclusion: The role of pharmacists collaborated to the reduction of level I MI, due to the intervention by means of communication established with the prescribers; signaling the importance of the interprofessional health team.

Objetivo: Evaluar las interacciones medicamentosas (IM), en las que los riesgos superan a los beneficios (nivel I) o los beneficios superan a los riesgos (nivel II); a partir del análisis retrospectivo de las prescripciones médicas en un Hospital Universitario del estado de São Paulo, Brasil. Métodos: Se analizaron 19.762 prescripciones destinadas a la farmacia del hospital, de enero a septiembre de 2009; con la ayuda de programas sobre IM, para categorizar los IM de nivel I y II. Resultados: En el análisis el 26,53% presentaron IM, en el que el 23,64% se clasificaron en nivel I y el 76,35% en nivel II. Entre los IM de nivel I más frecuentes estaban: ácido acetilsalicílico (AAS) y clopidogrel, AAS y heparina, captopril y espironolactona, digoxina e hidroclorotiazida. Hubo una reducción del porcentaje de IM de nivel I, comparando enero, que supuso el 26,5%, y septiembre, que supuso el 18,4%. En cuanto a los IM de nivel II, fueron más frecuentes las siguientes asociaciones: AAS y propranolol, AAS e insulina humana regular, AAS y atenolol, AAS y enalapril, AAS y carvedilol. Conclusiones: El papel de los farmacéuticos colaboró a la reducción de las IM de nivel I, debido a la intervención mediante la comunicación establecida con los prescriptores; señalando la importancia del equipo sanitario interprofesional.

Prescrições de Medicamentos , Interações Medicamentosas , Farmácia , Avaliação de Medicamentos , Educação Interprofissional , Pacientes Internados
JBI Evid Implement ; 21(S1): S28-S37, 2023 Dec 01.
Artigo em Inglês | MEDLINE | ID: mdl-38037446


OBJECTIVES: The current project aimed to improve the quality of health care by promoting evidence-based practice (EBP) regarding mental health care planning (MHCP) for adult inpatients. INTRODUCTION: The implementation of the best evidence in the process of developing and documenting nursing care plans is currently an important legal requirement that contributes to increasing the quality of care. METHODS: This implementation project was based on the JBI evidence implementation approach and included a baseline audit of seven criteria, implementation of strategies, and a follow-up audit. The project was conducted in an acute psychiatric setting at a university hospital in Bucharest, Romania. The sample included 17 nurses and 30 ward patients. RESULTS: The baseline audit revealed low compliance (33%-37%) for criterion 3 (a comprehensive care plan) and criterion 4 (patient involvement); moderate compliance (55%) for criterion 1 (care plan for all patients); and increased compliance (97%-100%) for criterion 2 (assessment of patient's needs), criterion 5 (education of patients/caregivers), criterion 6 (providing a copy at discharge), and criterion 7 (education of professionals). As a result of implementing the most appropriate strategies, the maximum improvement (100%) was observed across all five audit criteria that were found to be deficient in the baseline audit. CONCLUSION: The development and implementation of strategies adapted to specific care need to play a key role in the implementation of EBP. In this case, educating nurses, facilitating nurses' access to EBP for care planning, and improving procedures proved effective in achieving maximum compliance with all the audit criteria.

Pacientes Internados , Saúde Mental , Adulto , Humanos , Hospitais Universitários , Atenção à Saúde , Assistência Centrada no Paciente
J Pers Disord ; 37(6): 751-760, 2023 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-38038655


Borderline personality disorder (BPD) has been conceptualized as a disorder of attachment. However, the specificity of attachment insecurity to BPD in adolescents remains unclear. In this study, an inpatient sample (n = 521), of which 173 (33.2%) met the criteria for BPD, and a control sample of community-dwelling adolescents (n = 294) ages 12-17 were compared on a self-report measure of attachment security. In addition, hierarchical regression analyses were carried out to examine the incremental contribution of BPD symptoms, over and above internalizing and externalizing symptoms, in predicting attachment security. Results showed expected group differences such that adolescents with BPD evidenced higher levels of attachment insecurity to both fathers and mothers than psychiatric and community-dwelling controls. BPD features also incremented internalizing and externalizing problems associated with attachment security. However, because psychiatric controls also evidenced high levels of attachment insecurity, we conclude that while attachment insecurity is particularly salient for BPD, it is not necessarily specific to the disorder.

Transtorno da Personalidade Borderline , Pacientes Internados , Humanos , Adolescente , Transtorno da Personalidade Borderline/diagnóstico , Transtorno da Personalidade Borderline/psicologia , Vida Independente , Autorrelato
JAMA Health Forum ; 4(12): e234206, 2023 Dec 01.
Artigo em Inglês | MEDLINE | ID: mdl-38038986


Importance: The COVID-19 pandemic had unprecedented effects on hospital occupancy, with consequences for hospital operations and patient care. Previous studies of occupancy during COVID-19 have been limited to small samples of hospitals. Objective: To measure the association between COVID-19 admission rates and hospital occupancy in different US areas and at different time periods during 2020. Design, Setting, and Participants: This cross-sectional study used data from the Healthcare Cost and Utilization Project State Inpatient Databases (2019-2020) for patients in nonfederal acute care hospitals in 45 US states, including the District of Columbia. Data analysis was performed between September 1, 2022, and April 30, 2023. Exposures: Each hospital and week in 2020 was categorized based on the number of COVID-19 admissions per 100 beds (<1 [low], 1-4.9, 5-9.9, 10-14.9, or ≥15 [high]). Main Outcomes and Measures: The main outcomes were inpatient and intensive care unit (ICU) occupancy. We used regression analysis to estimate the average change in occupancy for each hospital-week in 2020 relative to the same hospital week in 2019. Results: This study included 3960 hospitals and 54 355 916 admissions. Of the admissions in the 40 states used for race and ethnicity analyses, 15.7% were for Black patients, 12.9% were for Hispanic patients, 62.5% were for White patients, and 7.2% were for patients of other race or ethnicity; 1.7% of patients were missing these data. Weekly COVID-19 admission rates in 2020 were less than 4 per 100 beds for 63.9% of hospital-weeks and at least 10 in only 15.9% of hospital-weeks. Inpatient occupancy decreased by 12.7% (95% CI, 12.1% to 13.4%) during weeks with low COVID-19 admission rates and increased by 7.9% (95% CI, 6.8% to 9.0%) during weeks with high COVID-19 admission rates. Intensive care unit occupancy rates increased by 67.8% (95% CI, 60.5% to 75.3%) during weeks with high COVID-19 admissions. Increases in ICU occupancy were greatest when weighted to reflect the experience of Hispanic patients. Changes in occupancy were most pronounced early in the pandemic. During weeks with high COVID-19 admissions, occupancy decreased for many service lines, with occupancy by surgical patients declining by 43.1% (95% CI, 38.6% to 47.2%) early in the pandemic. Conclusions and Relevance: In this cross-sectional study of US hospital discharges in 45 states in 2020, hospital occupancy decreased during weeks with low COVID-19 admissions and increased during weeks with high COVID-19 admissions, with the largest changes occurring early in the pandemic. These findings suggest that surges in COVID-19 strained ICUs and were associated with large decreases in the number of surgical patients. These occupancy fluctuations may have affected quality of care and hospital finances.

COVID-19 , Humanos , COVID-19/epidemiologia , COVID-19/terapia , Pacientes Internados , Pandemias , Estudos Transversais , Unidades de Terapia Intensiva , Hospitais
Rev. neurol. (Ed. impr.) ; 77(6): 141-145, Juli-Dic. 2023. tab, ilus
Artigo em Espanhol | IBECS | ID: ibc-225559


Introducción: La encefalopatía KIF1A-associated-neurological-disorder (KAND) es un grupo de patologías neurodegenerativas progresivas de diversa gravedad ocasionadas por mutaciones en el gen KIF1A (kinesin family member 1A) situado en el cromosoma 2q37.3. Dicho gen codifica una proteína de la familia de las cinesinas 3 que participa en el transporte anterógrado de las vesículas presinápticas dependientes del trifosfato de adenosina a través de microtúbulos neuronales. Casos clínicos: Se describen cuatro pacientes, con edades entre 1 y 13 años, con mediana de inicio de los síntomas de cinco meses (rango intercuartílico: 0-11 meses), lo que supone una prevalencia aproximada de 1 de cada 64.000 menores de 14 años para nuestra población pediátrica. Clínicamente, destacaron discapacidad intelectual, hipotonía axial y paraparesia espástica en 4/4, y síntomas cerebelosos en 2/4. Otras manifestaciones fueron incontinencia urinaria, polineuropatía sensitivomotora y alteración conductual. Destaca, en el caso 2, la alteración en el videoelectroencefalograma, que mostraba epilepsia focal con generalización secundaria y focalidad paroxística occipitoparietal posterior derecha con transmisión contralateral. También mostraba crisis oculógiras en supraversión instantáneas pluricotidianas sin correlato electroencefalográfico. Conclusiones: En nuestra serie, la encefalopatía KAND, fenotipo trastorno neurodegenerativo con retraso global del desarrollo, de la marcha y espasticidad progresiva de los miembros inferiores, atrofia cerebelosa y/o afectación de la corteza visual, fue predominante, y en uno de los casos asoció polineuropatía sensitivomotora. La mutación de novo missense fue más frecuente y en tres casos es la primera descripción conocida. Un caso mostraba epilepsia focal y crisis oculógiras no epilépticas.(AU)

Introduction: KIF1A-associated-neurological-disorder (KAND) encephalopathy is a group of progressive neurodegenerative pathologies of varying severity caused by mutations in the KIF1A gene (Kinesin family member 1A) located on chromosome 2q37.3. This gene encodes a protein of the kinesin-3 family that participates in the ATP-dependent anterograde transport of presynaptic vesicles through neuronal microtubules. Case report: Four patients are described, aged 1-13 years, with a median onset of symptoms of 5 months (IQR 0-11 months), which represents an approximate prevalence of 1 per 64,000 children under 14 years of age for our pediatric population. Clinically, intellectual disability (ID), axial hypotonia and spastic paraparesis stood out in 4/4 and cerebellar symptoms in 2/4. Other manifestations were urinary incontinence, sensory-motor polyneuropathy, and behavioral alteration. In case 2, the alteration in the video-EEG stands out, which showed focal epilepsy with secondary generalization and right posterior occipito-parietal paroxysmal focality with contralateral transmission. She also showed instantaneous pluricotidian supraversion oculogyric seizures without EEG correlates. Conclusions: In our series, KAND encephalopathy had a predominant neurodegenerative disorder phenotype with global developmental delay, gait delay, and progressive spasticity of the lower limbs, cerebellar atrophy, and/or involvement of the visual cortex, which in one case was associated with sensory-motor polyneuropathy. The de novo missense mutation was more frequent and in three cases it is the first known description. One case showed focal epilepsy and nonepileptic oculogyric seizures.(AU)

Humanos , Masculino , Feminino , Recém-Nascido , Lactente , Pré-Escolar , Criança , Adolescente , Encefalopatias/diagnóstico por imagem , Mutação de Sentido Incorreto , Cinesinas , Deficiência Intelectual , Fenótipo , Microtúbulos , Neurologia , Doenças do Sistema Nervoso , Pacientes Internados , Exame Físico , Prevalência
Clín. investig. ginecol. obstet. (Ed. impr.) ; 50(4): [100886], Oct-Dic, 2023. ilus
Artigo em Espanhol | IBECS | ID: ibc-226529


Introducción: La afectación primaria del tracto genital femenino por linfoma no Hodgkin es muy poco frecuente, por lo que no existe un consenso sobre el tratamiento, y por ello presentamos este caso clínico y el tratamiento realizado, así como el pronóstico de nuestra paciente. Hallazgos clínicos: La paciente presentada es una mujer de 72años que consulta por hemorragia vaginal. Diagnóstico Se diagnostica de linfoma no Hodgkin extranodal primario de cérvix de inmunofenotipoB de alto grado citológico y elevado índice proliferativo. Intervenciones terapéuticas y resultados: El tratamiento de elección fue únicamente quimioterápico. Esta paciente ha presentado una supervivencia libre de enfermedad de 5años. Actualmente se encuentra en seguimiento mediante la realización de controles analíticos anuales. Conclusión: Los síntomas de este tipo de tumor son altamente inespecíficos y la citología es frecuentemente negativa, por lo que es necesario recurrir a la biopsia. La inmunohistoquímica resulta fundamental tanto para el diagnóstico como para el pronóstico. Existen múltiples técnicas de imagen empleadas tanto para estudio de extensión como para seguimiento, destacando el papel del FDG-PET. Actualmente parece que el tratamiento más recomendable es la pauta quimioterápica R-CHOP seguida de radioterapia. El pronóstico en general es bueno, con hasta un 80% de supervivencia a los 5años.(AU)

Introduction: Primary involvement of the female genital tract by non-Hodgkin lymphoma is very rare, so there is no consensus on treatment, and for this reason we present this clinical case and the treatment performed, as well as the prognosis of our patient. Clinical findings: The patient presented is a 72-year-old woman who consulted for vaginal bleeding. Diagnosis: Primary extranodal non-Hodgkin lymphoma of the cervix with immunophenotypeB of high cytological grade and high proliferative index was diagnosed. Therapeutic interventions and results: The treatment of choice was chemotherapy only. This patient has presented a disease-free survival of 5years. It is currently being monitored by carrying out annual analytical controls. Conclusion: The symptoms of this type of tumor are highly non-specific, as well as cytology is frequently negative, which is why it is necessary to resort to biopsy. Immunohistochemistry is essential for both diagnosis and prognosis. There are multiple imaging techniques used for both extension study and follow-up, highlighting the role of FDG-PET. It currently seems that the most recommendable treatment is the R-CHOP chemotherapy regimen followed by radiotherapy.The prognosis is generally good, with up to 80% survival at 5years.(AU)

Humanos , Feminino , Idoso , Linfoma Difuso de Grandes Células B , Genitália Feminina , Linfoma não Hodgkin/tratamento farmacológico , Neoplasias do Colo do Útero , Doenças dos Genitais Femininos , Ginecologia , Pacientes Internados , Exame Físico , Avaliação de Sintomas , Linfoma
Clín. investig. ginecol. obstet. (Ed. impr.) ; 50(4): [100891], Oct-Dic, 2023. tab, ilus
Artigo em Espanhol | IBECS | ID: ibc-226530


Introducción: El fibrosarcoma ovárico es un tumor maligno del estroma ovárico muy infrecuente, con pocos casos reportado en la literatura. Principales síntomas o hallazgos clínicos: Mujer de 56 años posmenopáusica, con sangrado vaginal escaso de varios días de evolución y dolor en fosa ilíaca derecha sin fiebre ni clínica digestiva. La exploración ginecológica era normal.Diagnósticos principales, intervenciones terapéuticas y resultados: La ecografía transvaginal mostró un endometrio homogéneo, un mioma de 2,4×1cm y una lesión sólido-quística heterogénea de tabiques gruesos de 6,4×6,8cm en el ovario izquierdo. El estudio histológico intraoperatorio se informó como: neoplasia sólida sospechosa de malignidad. Se le realizó histerectomía más doble anexectomía, omentectomía y linfadenectomía. Histológicamente la neoplasia estaba constituida por células fusiformes dispuestas en láminas y fascículos entrecruzados con apariencia difusa en espiga, con atipia nuclear moderada, áreas de necrosis y focos de hemorragia. Se identificaron 12 mitosis por 10 campos de gran aumento. Inmunohistoquímicamente las células fueron positivas para inhibina, actina 1A4, vimentina, calretinina, CD56 y CD99. El índice proliferativo con Ki-67 fue del 25%. El diagnosticó definitivo fue: fibrosarcoma primario de ovario. Un año después, la paciente se encontraba libre de enfermedad sin ninguna terapia adyuvante y continúa en seguimiento. Conclusión: El fibrosarcoma de ovario es una neoplasia maligna excepcional de mal pronóstico. En la actualidad, los tratamientos y factores pronósticos del fibrosarcoma ovárico siguen siendo discutibles. El presente caso destaca el importante papel del estudio intraoperatorio y la inmunohistoquímica para su correcto diagnóstico.(AU)

Introduction: Ovarian fibrosarcoma is an extremely rare malignant ovarian stromal tumor, with few cases reported in the literature. Main symptoms and/or clinical findings: A 56-year-old posmenopausal woman with scant vaginal bleeding of several days’ duration and pain in the right iliac fossa without fever or digestive symptoms. The gynecological examination was normal. Main diagnoses, therapeutic interventions and results: Transvaginal ultrasound showed a homogeneous endometrium, a 2.4×1cm myoma, and a heterogeneous solid-cystic lesion with thick septa measuring 6.4×6.8cm in the left ovary. An intraoperative histological study was performed, which was reported as: solid neoplasm suspicious of malignancy. Hysterectomy plus double adnexectomy, omentectomy, and lymphadenectomy were performed. Histologically, the neoplasm was made up of spindle cells arranged in sheets and intertwined fascicles with a diffuse spike-like appearance, with moderate nuclear atypia, areas of necrosis and hemorrhage foci; 12 mitoses were identified for every 10 high-power fields. Immunohistochemically the cells were positive for inhibin, actin 1A4, vimentin, calretinin, CD56 and CD99. The proliferative rate with Ki-67 was 25%. The definitive diagnosis was: primary ovarian fibrosarcoma. One year later, the patient is free of the disease without any adjuvant treatment and continues to be followed up. Conclusion: Ovarian fibrosarcoma is an exceptional malignancy with a poor prognosis. Currently, the treatments and prognostic factors for ovarian fibrosarcoma are still the subject of debate. This case highlights the important role of the intraoperative study and immunohistochemistry for its correct diagnosis.(AU)

Humanos , Feminino , Pessoa de Meia-Idade , Fibrossarcoma/diagnóstico por imagem , Fibrossarcoma/etiologia , Imuno-Histoquímica , Ovário , Ginecologia , Pacientes Internados , Exame Físico , Avaliação de Sintomas , Laparoscopia
Rev. esp. patol ; 56(4): 252-260, Oct-Dic, 2023. graf, tab
Artigo em Inglês | IBECS | ID: ibc-226958


Since sentinel lymph node examination became routine, findings of benign ectopic breast tissue in lymph nodes have increased. We report images of ductal carcinoma in situ (DCIS) in four lymph nodes in a 76-year-old woman with bilateral breast carcinoma. The right lumpectomy showed intermixed invasive lobular and ductal carcinoma, plus DCIS. 19 nodes were isolated in the axillary lymphadenectomy, 4 of which displayed solid and cribriform DCIS. Myosin and p63 immunohistochemical techniques were positive, suggesting an erroneous diagnosis of “metastatic DCIS”. A further three cases of DCIS in lymph nodes have been previously reported, all with a distinct layer of myoepithelial cells with actin, myosin or p63. Biologically, these images of DCIS in lymph nodes are not credible and three major hypotheses have been proposed to explain these findings: Iatrogenic Mechanical Transport, Revertant DCIS, and primary DCIS of lymph nodes. We consider the first one the most plausible explanation. Our case is unique as several, rare findings are simultaneously observed. More new cases, together with additional immunohistochemical techniques and molecular testing on previous cases, are needed to find a definitive explanation of this histologic finding.(AU)

A partir del uso rutinario del examen del ganglio centinela, los hallazgos de tejido mamario ectópico son frecuentes. Presentamos los hallazgos de carcinoma ductal in situ (CDIS) en 4 ganglios linfáticos en una mujer de 76 años con carcinoma de mama bilateral. La lumpectomía derecha mostró una mezcla de patrones de carcinomas ductal y lobular infiltrante, además de CDIS. De los 19 ganglios aislados, 4 mostraron patrones cribiformes y sólidos de CDIS. La miosina y la p63 fueron positivas, sugiriendo un diagnóstico erróneo de «CDIS metastático». En la literatura se han comunicado 3 casos adicionales de patrones de CDIS en ganglios linfáticos, mostrando capa periférica de células mioepiteliales positivas para actina, miosina o p63. Desde un punto de vista biológico, estos hallazgos de CDIS en ganglios linfáticos son discutibles, proponiéndose 3 hipótesis para explicarlo: transporte mecánico yatrogénico, CDIS revertido y CDIS primario de ganglio linfático. Creemos que la primera alternativa es la más plausible. Nuestro caso es único al mostrar, de modo conjunto, diversos hallazgos infrecuentes. El estudio de nuevos casos, así como la aplicación de técnicas inmunohistoquímicas y moleculares a casos de archivo, arrojarían datos que permitirían llegar a una explicación definitiva de este hallazgo histológico.(AU)

Humanos , Feminino , Idoso , Carcinoma Intraductal não Infiltrante , Linfonodos , Metástase Neoplásica , Linfonodo Sentinela , Coristoma , Carcinoma Lobular , Pacientes Internados , Exame Físico , Carcinoma , Neoplasias da Mama , Imuno-Histoquímica
Rev. esp. patol ; 56(4): 271-274, Oct-Dic, 2023. ilus
Artigo em Inglês | IBECS | ID: ibc-226959


Serrated lesions outside the low digestive tract are scarce, with only two traditional serrated adenomas (TSA) reported in the gallbladder, with limited information about the serrated pathway outside the colon. Our case was an incidental finding in a patient undergoing surgery to treat a cholecystitis, when a polypoid lesion was observed. The epithelium formed gland structures with ectopic crypts, serrated slits and eosinophilic cytoplasm. MUC4 and MUC5A were positive, but mismatch repair proteins (MSI) retained nuclear staining. BRAF showed a not mutated profile and NRAS/KRAS was inconclusive due to the absence of remaining tissue. MSI and CpG island (CIMP), the most common genetic hallmarks of the serrated pathway, have been proven in gallbladder carcinomas, although serrated polyps are not recognized as premalignant precursors. Hereby we report one TSA of the gallbladder without the usual genetic drivers. A larger evidence is needed to improve the diagnosis and management.(AU)

Las lesiones serradas no suelen localizarse fuera del tracto digestivo bajo, con solo 2 adenomas serrados tradicionales (TSA) descritos. Por ello, la información sobre la vía serrada fuera del colon es limitada. Nuestro caso trata de un hallazgo incidental en un paciente al que se le realizó una colecistectomía y en el que se observó una lesión polipoide. Esta formaba estructuras glandulares con criptas ectópicas, serración y citoplasma eosinófilo. MUC4 y MUC5A eran positivos, pero las proteínas implicadas en la inestabilidad de microsatélites (MSI) conservaban tinción nuclear. BRAF no estaba mutado y NRAS/KRAS no fue concluyente. La MSI y la metilación de CpG (CIMP) son las vías oncogénicas más comunes de la vía serrada y se ha demostrado en carcinomas de vesícula biliar. Sin embargo, los pólipos serrados no se reconocen como precursores premalignos. Nuestro caso trata de un adenoma serrado tradicional de vesícula biliar sin rasgos genéticos habituales. Se necesita mayor casuística en la literatura.(AU)

Humanos , Masculino , Idoso , Vesícula Biliar , Adenoma , Achados Incidentais , Colecistectomia , Pólipos , Pacientes Internados , Exame Físico
Rev. esp. patol ; 56(4): 279-283, Oct-Dic, 2023. tab, ilus, graf
Artigo em Inglês | IBECS | ID: ibc-226961


Intranodal palisaded myofibroblastoma (IPM) is a rare stroma-derived spindle-cell neoplasm of the lymph node with myofibroblastic differentiation and CTNNB1 (β-catenin gene) somatic mutations. We present a case of IPM found incidentally in the staging of lung adenocarcinoma. We describe the major histopathological and phenotypic features, including a palisaded bland spindle cell proliferation with myofibroblastic differentiation and Wnt pathway activation by immunohistochemistry, including β-catenin expression. Production of osteoid-like collagen directly from tumor cells was observed. We confirmed p.Gly34Arg CTNNB1 mutation by direct sequencing. We also reviewed the literature for similar cases.(AU)

El miofibroblastoma en empalizada intraganglionar linfático (MEIG) es una neoplasia infrecuente de células fusiformes del estroma del ganglio linfático con diferenciación miofibroblástica y mutaciones en CTNNB1 (gen de la β-catenina). Aquí mostramos el caso de un paciente con MEIG encontrado incidentalmente en la estadificación por un adenocarcinoma de pulmón. Se describen las características histopatológicas principales de la entidad, incluyendo una proliferación de células fusiformes con escasa atipia, empalizadas celulares y diferenciación miofibroblástica con activación de la vía Wnt, incluyendo expresión inmunohistoquímica de β-catenina. Se observó producción de colágeno de tipo osteoide por parte de las células tumorales. Se confirmó la presencia de la mutación p.Gly34Arg de CTNNB1 mediante secuenciación directa. Se recogen adicionalmente publicaciones de casos similares al nuestro.(AU)

Humanos , Feminino , Idoso , Mutação , Neoplasias de Tecido Muscular , Células Estromais , Via de Sinalização Wnt , beta Catenina , Neoplasias Pulmonares , Patologia Clínica , Pacientes Internados , Exame Físico , Avaliação de Sintomas